MCID: HYP607
MIFTS: 77

Hypercholesterolemia, Familial malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Liver diseases

Aliases & Classifications for Hypercholesterolemia, Familial

About this section

Aliases & Descriptions for Hypercholesterolemia, Familial:

Name: Hypercholesterolemia, Familial 50 12 33 66
Familial Hypercholesterolemia 33 11 22 46 23 13 68
Hypercholesterolemia 50 24 48 66
Hypercholesterolemia, Autosomal Dominant 22 46 48
Hyperbetalipoproteinemia 11 46 25
Familial Hypercholesterolaemia 22 25
Hyperlipoproteinemia Type Ii 46 37
Fh 46 68
Coronary Artery Disease in Familial Hypercholesterolemia, Protection Against 50
Hypercholesterolemia, Familial, Due to Ldlr Defect, Modifier of 50
Hypercholesterolemia, Familial, Modifier of 50
Fredrickson Type Iia Hyperlipoproteinemia 11
Familial Hyperbetalipoproteinaemia 11
High Serum Cholesterol, Familial 46
Fredrickson Type Iia Lipidaemia 11
 
Hyperlipoproteinemia, Type Iia 22
Hyperlipoproteinemia, Type 2 a 46
Hypercholesterolemia Familial 48
Hyperlipoproteinemia Type Iib 66
Hyperlipoproteinemia Type Iia 66
Familial Hypercholesteremia 11
Hyperlipoproteinemia Type 2 46
Ldl Cholesterol Level Qtl2 50
Hyper-Beta-Lipoproteinemia 46
Hyperlipidema, Familial 46
Type Ii Hyperlipidemia 11
Ldl Receptor Disorder 46
Elevated Cholesterol 24
Fhc 46

Characteristics:



Classifications:



External Ids:

OMIM50 143890
Disease Ontology11 DOID:13810
ICD1028 E78.0
MeSH37 D006938
NCIt43 C34704

Summaries for Hypercholesterolemia, Familial

About this section
NIH Rare Diseases:46 Familial hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood due to mutations in the ldlr gene. people with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease, as well as health problems related to the buildup of excess cholesterol in other tissues (e.g., in the tendons and skin). familial hypercholesterolemia tends to be passed through families in an autosomal dominant fashion. there are other hereditary forms of hypercholesterolemia caused by mutations in the apob, ldlrap1, or pcsk9 gene. however, most cases of high cholesterol are not caused by a single inherited condition, but result from a combination of lifestyle choices and the effects of variations in many genes. last updated: 6/18/2015

MalaCards based summary: Hypercholesterolemia, Familial, also known as familial hypercholesterolemia, is related to hypercholesterolemia, familial, autosomal recessive and hyperlipidemia, familial combined, and has symptoms including corneal arcus, xanthelasma and hypercholesterolemia. An important gene associated with Hypercholesterolemia, Familial is LDLR (Low Density Lipoprotein Receptor), and among its related pathways are SREBF and miR33 in cholesterol and lipid homeostasis and Folate Metabolism. The drugs cholestyramine resin and clofibrate have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and liver, and related mouse phenotypes are muscle and liver/biliary system.

Disease Ontology:11 A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (ldl) and early cardiovascular disease.

Genetics Home Reference:24 Hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). The body needs this substance to build cell membranes, make certain hormones, and produce compounds that aid in fat digestion. Too much cholesterol, however, increases a person's risk of developing heart disease.

OMIM:50 Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevation of serum cholesterol bound... (143890) more...

UniProtKB/Swiss-Prot:68 Familial hypercholesterolemia: Common autosomal semi-dominant disease that affects about 1 in 500 individuals. The receptor defect impairs the catabolism of LDL, and the resultant elevation in plasma LDL-cholesterol promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis).

Wikipedia:69 Familial hypercholesterolemia (abbreviated FH, also spelled familial hypercholesterolaemia) is a genetic... more...

GeneReviews summary for NBK174884

Related Diseases for Hypercholesterolemia, Familial

About this section

Diseases in the Hypercholesterolemia, Familial family:

Hypercholesterolemia, Familial, Autosomal Recessive Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Due to Ligand-Defective Apo B Ldlrap1-Related Familial Hypercholesterolemia, Autosomal Recessive
Apob-Related Familial Hypercholesterolemia, Autosomal Dominant Ldlr-Related Familial Hypercholesterolemia, Autosomal Dominant
Pcsk9-Related Familial Hypercholesterolemia, Autosomal Dominant

Diseases related to Hypercholesterolemia, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 131)
idRelated DiseaseScoreTop Affiliating Genes
1hypercholesterolemia, familial, autosomal recessive34.2LDLR, LDLRAP1, PCSK9
2hyperlipidemia, familial combined32.0APOA1, APOA2, APOB, COG2, LDLR, LPL
3coronary artery disease29.4ABCA1, APOA1, APOA2, APOB, APOE, CETP
4homozygous familial hypercholesterolemia12.1
5pcsk9-related familial hypercholesterolemia, autosomal dominant12.0
6hypercholesterolemia, familial, 312.0
7ldlrap1-related familial hypercholesterolemia, autosomal recessive11.9
8apob-related familial hypercholesterolemia, autosomal dominant11.9
9ldlr-related familial hypercholesterolemia, autosomal dominant11.9
10fumarase deficiency11.8
11leiomyomatosis and renal cell cancer11.8
12hyperaldosteronism, familial, type iii11.6
13leiomyomatosis11.4
14renal cell carcinoma11.4
15floating-harbor syndrome11.4
16fumarate hydratase deficiency11.4
17leiomyoma11.3
18hyperlipidemia type 311.3
19leiomyosarcoma11.3
20pheochromocytoma11.2
21uterine fibroid11.2
22aldosteronism, glucocorticoid-remediable11.1
23kidney cancer11.1
24multiple cutaneous and uterine leiomyomas11.1
25hyperlipoproteinemia type iii11.0
26cutaneous leiomyosarcoma11.0
27polyhydramnios11.0
28cardiomyopathy, familial hypertrophic11.0
29hyperaldosteronism, familial, type ii10.9
30familial hyperaldosteronism10.9
31renal cell carcinoma, papillary10.9
32tumor predisposition syndrome10.9
33leiomyoma, uterine, somatic10.9
34birt-hogg-dube syndrome10.9
35carrion's disease10.9
36reproductive organ benign neoplasm10.9
37cell type benign neoplasm10.9
38uterine benign neoplasm10.9
39ovarian benign neoplasm10.9
40gastric leiomyoma10.9
41acute contagious conjunctivitis10.9
42skin sarcoma10.9
43mucinous ovarian cystadenoma10.9
44ovarian cystadenoma10.9
45hereditary renal cell carcinoma10.9
46leiomyoma cutis10.9
47dartoic leiomyoma10.9
48familial renal papillary carcinoma10.9
49familial renal oncocytoma10.9
50familial renal cell carcinoma10.9

Graphical network of the top 20 diseases related to Hypercholesterolemia, Familial:



Diseases related to hypercholesterolemia, familial

Symptoms for Hypercholesterolemia, Familial

About this section

Symptoms by clinical synopsis from OMIM:

143890

Clinical features from OMIM:

143890

HPO human phenotypes related to Hypercholesterolemia, Familial:

(show all 7)
id Description Frequency HPO Source Accession
1 corneal arcus HP:0001084
2 xanthelasma HP:0001114
3 hypercholesterolemia HP:0003124
4 abnormality of the skin HP:0000951
5 hypertriglyceridemia HP:0002155
6 atheromatosis HP:0002635
7 hyperbetalipoproteinemia HP:0003141

Drugs & Therapeutics for Hypercholesterolemia, Familial

About this section

Drugs for Hypercholesterolemia, Familial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 244)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ValsartanPhase 4, Phase 3280137862-53-460846
Synonyms:
(2S)-3-methyl-2-[pentanoyl-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]amino]butanoic acid
(S)-N-Valeryl-N-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]-methyl}-valine
(S)-N-valeryl-N-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]-methyl}-valine
(s)-2-(n-((2'-(1h-tetrazol-5-yl)biphenyl-4-yl)methyl)pentanamido)-3-methylbutanoic acid
137862-53-4
AC-4543
AC1L1U1M
AC1Q5QIK
Ambap137862-53-4
Aventis brand of valsartan
BIDD:GT0345
BRD-K45158365-001-02-3
BSPBio_003501
Bio-0796
C081489
C24H29N5O3
CEPA brand of valsartan
CGP 48933
CGP-48933
CHEBI:9927
CHEMBL1069
CID60846
CPD000466318
D00400
DB00177
Diovan
Diovan (TN)
Diovan, Valsartan
Esteve brand of valsartan
HMS1922L21
HMS2051L12
HMS2093K22
HSDB 7519
KBio2_002287
KBio2_004855
KBio2_007423
KBio3_003006
KBioGR_001078
KBioSS_002289
 
Kalpress
L-Valine, N-(1-oxopentyl)-N-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl]- (9CI)
LS-161334
Lacer brand of valsartan
MLS000759423
MLS001424088
Miten
MolPort-002-507-854
MolPort-003-666-608
N-(1-oxopentyl)-N-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl]-L-valine
N-(P-(O-1H-Tetrazol-5-ylphenyl)benzyl)-N-valeryl-L-valine
N-(p-(o-1H-Tetrazol-5-ylphenyl)benzyl)-N-valeryl-L-valine
N-pentanoyl-N-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-L-valine
N-pentanoyl-N-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-L-valine
N-valeryl-N-((2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl)valine
Nisis
Nisis||
Novartis brand of valsartan
Provas
S1894_Selleck
SAM001246581
SMR000466318
SPBio_001260
SPECTRUM1505209
Sanol brand of valsartan
Schwarz brand of valsartan
Spectrum2_001120
Spectrum3_001831
Spectrum4_000749
Spectrum5_001582
Spectrum_001796
TL8000869
Tareg
UNII-80M03YXJ7I
Vals
Valsarran
Valsartan (JAN/USAN/INN)
Valsartan [USAN:INN]
valsartan
walsartan
|Tareg
2
angiotensin IIPhase 4, Phase 3113568521-88-0, 11128-99-7172198, 65143
Synonyms:
1-8-Angiotensin I
1-L-Aspasaginyl-5-L-valyl angiotensin octapeptide
Ang II
Angiotensin 2
Angiotensin II (human)
 
Angiotensin II (mouse)
Angiotonin
Asp-arg-val-TYR-ile-his-pro-phe
Human angiotensin II
Hypertensin
Ile(5)-angiotensin II
3
DarunavirPhase 4200635728-49-3, 206361-99-1213039
Synonyms:
(3-((4-aminobenzenesulfonyl)isobutylamino)-1-benzyl-2-hydroxypropyl)carbamic acid hexahydrofuro(2,3-b)furan-3-yl ester
(3R,3AS,6AR)-HEXAHYDROFURO[2,3-B]FURAN-3-YL(1S,2R)-3-[[(4-AMINOPHENYL)SULFONYL](ISOBUTYL)AMINO]-1-BENZYL-2-HYDROXYPROPYLCARBAMATE
(3R,3AS,6ar)-hexahydrofuro[2,3-b]furan-3-yl N-((1S,2R)-1-benzyl-2-hydroxy-3-(N(1)-isobutylsulfanilamido)propyl)carbamate
(3R,3AS,6ar)-hexahydrofuro[2,3-b]furan-3-yl(1S,2R)-3-[[(4-aminophenyl)sulfonyl](isobutyl)amino]-1-benzyl-2-hydroxypropylcarbamate
(3R,3AS,6ar)-tetrahydro-2H-furo[2,3-b]furan-3-yl (2S,3R)-4-(4-amino-N-isobutylphenylsulfonamido)-3-hydroxy-1-phenylbutan-2-ylcarbamate
(3R,3AS,6ar)-tetrahydro-2H-furo[2,3-b]furan-3-yl (2S,3R)-4-(4-amino-N-neopentylphenylsulfonamido)-3-hydroxy-1-phenylbutan-2-ylcarbamate
(3R,3aS,6aR)-Hexahydrofuro(2,3-b)furan-3-yl N-((1S,2R)-1-benzyl-2-hydroxy-3-(N1-isobutylsulfanilamido)propyl)carbamate
(3R,3aS,6aR)-hexahydrofuro[2,3-b]furan-3-yl N-((1S,2R)-1-benzyl-2-hydroxy-3-(N(1)-isobutylsulfanilamido)propyl)carbamate
(3R,3aS,6aR)-hexahydrofuro[2,3-b]furan-3-yl [(2S,3R)-4-{[(4-aminophenyl)sulfonyl](2-methylpropyl)amino}-3-hydroxy-1-phenylbutan-2-yl]carbamate
(3R,3aS,6aR)-tetrahydro-2H-furo[2,3-b]furan-3-yl (2S,3R)-4-(4-amino-N-isobutylphenylsulfonamido)-3-hydroxy-1-phenylbutan-2-ylcarbamate
(3R,3aS,6aR)-tetrahydro-2H-furo[2,3-b]furan-3-yl (2S,3R)-4-(4-amino-N-neopentylphenylsulfonamido)-3-hydroxy-1-phenylbutan-2-ylcarbamate
206361-99-1
2f80
2f81
2f8g
2hs1
2hs2
2idw
2ien
3bvb
3cyw
3d1z
3d20
618109-00-5
AC1L4U4V
AIDS073035
CHEBI:367163
CHEMBL1323
 
CID213039
Carbamic acid, [(1S,2R)-3-[[(4-aminophenyl)sulfonyl](2-methylpropyl)amino]-2-hydroxy-1-(phenylmethyl)propyl]-, (3R,3aS,6aR)-hexahydrofuro[2,3-b]furan-3-yl ester
D03656
DB01264
Darunavir
Darunavir (USAN/INN)
Darunavir [USAN]
Darunavirum
Darunavirum [INN-Latin]
Darunavirum [INN-latin]
LS-187026
LS-187772
LS-191295
MolPort-003-846-141
N-((1S,2R)-3-(((4-Aminophenyl)sulfonyl)(2-methylpropyl)amino)-2-hydroxy-1-benzylpropyl)((1S,2R,5R)-4,6-dioxabicyclo(3.3.0)oct-2-yloxy)carboxamide
Prezista
Prezista(TM)
TMC 114
TMC-114
TMC114
UIC 94017
UIC-94017
UIC-96017
UNII-YO603Y8113
[(3aS,4R,6aR)-2,3,3a,4,5,6a-hexahydrofuro[2,3-b]furan-4-yl] N-[(2S,3R)-4-[(4-aminophenyl)sulfonyl-(2-methylpropyl)amino]-3-hydroxy-1-phenylbutan-2-yl]carbamate
[(S)-3-[(4-Amino-benzenesulfonyl)-isobutyl-amino]-2-hydroxy-1-((R)-phenylmethyl)-propyl]-carbamic acid (3R,3aS,6aR)-(hexahydro-furo[2,3-b]furan-3-yl) ester
[(S)-3-[(4-Amino-benzenesulfonyl)-isobutyl-amino]-2-hydroxy-1-((R)-phenylmethyl)-propyl]-carbamic acid (3R,3as,6ar)-(hexahydro-furo[2,3-b]furan-3-yl) ester
{(1S,2R)-3-[(4-Amino-benzenesulfonyl)-isobutyl-amino]-1-benzyl-2-hydroxy-propyl}-carbamic acid (3R,3aS,6aR)-(hexahydro-furo[2,3-b]furan-3-yl) ester
{(1S,2R)-3-[(4-amino-benzenesulfonyl)-isobutyl-amino]-1-benzyl-2-hydroxy-propyl}-carbamic acid (3R,3as,6ar)-(hexahydro-furo[2,3-b]furan-3-yl) ester
4
EmtricitabinePhase 4, Phase 2430143491-57-060877
Synonyms:
(-)-(2R,5S)-5-Fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(-)-(2R,5S)-5-fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(-)-.beta.-L-FTC
(-)-2',3'-Dideoxy-5-fluoro-3'-thiacytidine
(-)-2'-Deoxy-5-fluoro-3'-thiacytidine
(-)-FTC
(-)-beta-2',3'-Dideoxy-5-fluoro-3'-thiacytidine
(-)-beta-2',3'-dideoxy-5-fluoro-3'-thiacytidine
(-)-cis-4-amino-5-Fluoro-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one
(-)-cis-4-amino-5-fluoro-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one
(2R-cis)-4-Amino-5-fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone
(2R-cis)-4-amino-5-Fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone
.beta.-L-(-)-(2R,5S)-5-Fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
1-(2-(Hydroxymethyl)oxathiolan-5-yl)-5-fluorocytosine
143491-54-7
143491-57-0
145213-48-5
2',3',5-FTC
2',3'-Dideoxy-5-fluoro-3'-thiacytidine
2'-Deoxy-5-fluoro-3'-oxa-4'-thiocytidine
2'-Deoxy-5-fluoro-3'-thiacytidine
2-FTC
3'-Thia-2'.3'-dideoxy-5-fluorocytidine
4-Amino-5-fluoro-1-((2R,5S)-2-hydroxymethyl-[1,3]oxathiolan-5-yl)-1H-pyrimidin-2-one
4-Amino-5-fluoro-1-[(2R,5S)-(hydroxymethyl)-1,3-oxathiolan-5-yl]-2(1H)-pyrimidinone
4-amino-5-Fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)pyrimidin-2(1H)-one
4-amino-5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2(1H)-one
4-amino-5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2-one
5-Fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine
5-Fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine
5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)[1,3]oxathiolan-5-yl]cytosine
524W91
AC1L1U3I
AC1Q4KUB
BW 1592
 
BW 524W91
BW-524W91
BW524W91
C122114
C12599
C8H10FN3O3S
CHEBI:31536
CHEMBL885
CID60877
Coviracil
Coviracil(TM)
D01199
DB00879
DRG-0208
Emtricitabin
Emtricitabina
Emtricitabine
Emtricitabine (JAN/USAN/INN)
Emtricitabinum
Emtriva
Emtriva (TN)
Emtriva(TM)
FT-0080009
HMS2089I05
HSDB 7337
LS-135838
LS-173184
NCGC00164564-01
RCV
Racivir
SBB066061
TL8000958
UNII-G70B4ETF4S
ZINC03629271
beta-L-2',3'-dideoxy-5-fluoro-3'-thiacytidine
dOTFC
emtricitabine
5
LovastatinPhase 4, Phase 3, Phase 2, Phase 16075330-75-553232
Synonyms:
(1S,3R,7S,8S,8AR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-(2R,4R)-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl (S)-2-methyl-butyrate
1cqp
2beta,6alpha-Dimethyl-8alpha-(2-methyl-1-oxobutoxy)-mevinic acid lactone
6 Methylcompactin
6 alpha-Methylcompactin
6-Methylcompactin
6-alpha-Methylcompactin
6-alpha-methylcompactin
6alpha-Methylcompactin
6α-methylcompactin
71949-96-7
74133-25-8
75330-75-5
81739-26-6
AC-13961
AC1L1EI6
AC1Q2C7T
ACon0_000534
ACon1_000390
ARONIS24208
Altocor
Altoprev
Artein
BB_NC-1457
BIDD:GT0749
BIDD:PXR0113
BPBio1_000519
BRD-K09416995-001-06-8
BRN 3631989
BSPBio_000471
BSPBio_001265
BSPBio_003346
Belvas
C07074
C24H36O5
CCRIS 8092
CHEBI:40303
CHEMBL503
CID53232
CPD-5561
CPD000673570
Cholestra
Closterol
Colevix
D00359
D008148
DB00227
DivK1c_001032
HMS1569H13
HMS1792O07
HMS1923O13
HMS1990O07
HMS2089M06
HMS2093O03
HMS503O05
HSDB 6534
Hipolip
Hipovastin
I06-1876
IDI1_001032
KBio1_001032
KBio3_002848
L-154803
L0214
LOVASTATIN
LS-46359
Lestatin
Lipdip
Lipivas
Lipofren
 
Liposcler
Lovalip
Lovalord
Lovastatin & Primycin
Lovastatin (USP/INN)
Lovastatin [USAN:BAN:INN]
Lovastatin, (1 alpha(S*))-Isomer
Lovastatin, 1 alpha-Isomer (without R*/S* notation)
Lovastatina
Lovastatina [Spanish]
Lovastatine
Lovastatine [French]
Lovastatinum
Lovastatinum [Latin]
Lovasterol
Lovastin
Lozutin
M2147_SIGMA
MEGxm0_000398
MK 803
MK-803
MK803
ML-530B
ML-530b
MLS000069585
MLS001055358
MSD 803
Mevacor
Mevacor (TN)
Mevinacor
Mevinolin
Mevinolin from Aspergillus sp.
Mevlor
MolPort-001-739-990
Monacolin K
Monacolin-K
Monakolin K
NCGC00023509-03
NCGC00023509-04
NCGC00023509-05
NCGC00023509-06
NCGC00023509-07
NCGC00023509-08
NINDS_001032
Nergadan
Paschol
Prestwick0_000516
Prestwick1_000516
Prestwick2_000516
Prestwick3_000516
Prestwick_819
Rextat
Rodatin
Rovacor
SAM002589963
SMR000058779
SMR000673570
SPBio_002392
SPECTRUM1503977
STK801953
Sivlor
Spectrum3_001873
Spectrum5_001294
Taucor
Tecnolip
Teroltrat
UNII-9LHU78OQFD
ZINC03812841
lovastatin
nchembio742-comp5
nchembio790-comp14
nchembio869-comp12
6
TenofovirPhase 4, Phase 2709147127-20-6464205
Synonyms:
(R)-9-(2-Phosphonomethoxypropyl)adenine
(R)-9-(2-Phosphonylmethoxypropyl)adenine
(R)-9-(2-phosphonomethoxypropyl)adenine
(R)-PMPA
147127-20-6
206184-49-8
AC-760
AC1LA9BO
Anh. tenofovir
Anhydrous tenofovir
Apropovir
CHEBI:45809
CHEMBL483
CID464205
D,L-Tenofovir
DB00300
GNA & Tenofovir
GS 1275
GS 1278
GS1278
 
HHA & Tenofovir
KS-5021
MolPort-003-850-411
NCGC00167535-01
PMPA
PMPA-(R)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- & Galanthus nivalis agglutinin (GNA)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- & Hippeastrum hybrid agglutinin( HHA)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- (9CI)
Phosphonic acid, [[2-(6-amino-9H-purin-9
S1401_Selleck
TDF
TFV
Tenefovir
Tenofovir
Tenofovir (anh.)
Tenofovir disoproxil
Tenofovir disoproxil fumarate
UNII-99YXE507IL
Viread
Viread, Tenofovir
[(2R)-1-(6-aminopurin-9-yl)propan-2-yl]oxymethylphosphonic acid
7Testosterone undecanoatePhase 4524
8
Testosterone enanthatePhase 4524315-37-79416
Synonyms:
17-((1-Oxoheptyl)oxy)androst-4-en-3-one
17-Hydroxyandrost-4-en-3-one, 17-heptanoate
17-Hydroxyandrost-4-en-3-one, 17-heptanoic acid
17beta-Enanthoxyandrost-4-en-3-one
17beta-Hydroxyandrost-4-en-3-one enanthate
4-Androsten-17beta-ol-3-one 17-enanthate
4-Androsten-3-one 17beta-enanthate
Androgyn L.A.
Andropository
Androtardyl
Atlatest
DEA No. 4000
DePatestrye
Delatest
Delatestryl
Depo-Testro Med
Ditate
Durathate
Everone
 
Exten test
Malogen L.A.
Malogen L.A.200
Orquisteron-E
Primotestone
Reposo TMD
Testanthate
Testate
Testenate
Testinon
Testoenant
Testonenant
Testosterone 17-enanthate
Testosterone 17beta-heptanoate
Testosterone 17beta-heptanoic acid
Testosterone enantate
Testosterone heptoate
Testosterone heptoic acid
Testosterone heptylate
Testosterone oenanthate
Testostroval
9
AbacavirPhase 4, Phase 3207136470-78-565140, 441300
Synonyms:
(+/-)-4-[2-Amino-6-(cyclopropylamino)-9H-purin-9-yl]-2-cyclopentene-1-methanol
(+/-)-Abacavir
(1S,4R)-4-[2-Amino-6-(cyclopropylamino)-9H-purin-9-yl]-2-cyclopentene-1-methanol
136470-78-5
1592U89
168146-84-7
ABC
AC1L9AXG
Abacavir
Abacavir (INN)
Abacavir [INN]
Bio-0001
C07624
CHEBI:421707
 
CHEMBL1380
CID441300
D07057
DB01048
Epzicom
NCGC00164560-01
NCGC00164560-02
NSC742406
Trizivir
ZINC02015928
Ziagen
Ziagen (TM)(*Succinate salt*)
[(1S,4R)-4-[2-amino-6-(cyclopropylamino)purin-9-yl]cyclopent-2-en-1-yl]methanol
abacavir
{(1S-cis)-4-[2-amino-6-(cyclopropylamino)-9H-purin-9-yl]cyclopent-2-en-1-yl}methanol
10
ColestipolPhase 4526658-42-4, 50925-79-662816
Synonyms:
Colestipolum
 
Colestipolum [INN-Latin]
Copolymer of bis(2-aminoethyl)amine and 2-(chloromethyl)oxirane
Epichlorohydrin-tetraethylenepentamine polymer
11
LamivudinePhase 4, Phase 3605134678-17-460825
Synonyms:
(+/-) (Cis)-1-[2-(Hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(+/-)-3TC
(+/-)-BCH-189
(+/-)-SddC
(-)-(2'R,5'S)-1-[2'-Hydroxymethyl-5'-(1,3-oxathiolanyl)]cytosine
(-)-1-((2R,5S)-2-(Hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine
(-)-1-[(2R,5S)-2-(Hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(-)-2'-Deoxy-3'-thiacytidine
(-)-BCH 189
(-)-BCH-189
(-)-SddC
(-)-beta-L-2',3'-Dideoxy-3'-thiacytidine
(-)NGPB-21
(2R,cis)-4-amino-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one
.beta.-L-(-)-2',3'-dideoxy-3'-thiacytidine & Sho-Saiko-To
134678-17-4
2',3' Dideoxy 3' thiacytidine
2',3'-Dideoxy-3'-thiacytidine
2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (+/-) (Cis)
2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (-)(2R,5S)
2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (-)(2R,5S) & Galanthus Nivalis Agglutinin (GNA)
2(1H)-Pyrimidinone, 4-amino-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl], (-)(2R,5S) & Hippeastrum hybrid agglutinin( HHA)
3'-Thia-2',3'-dideoxycytidine
3TC
3TC & GNA
3TC & SST
3TC (AIDS INITIATIVE) (AIDS INITIATIVE)
3TC and NV-01
3TC, Zeffix, Heptovir, Epivir, Epivir-HBV, Lamivudine
4-Amino-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone
4-amino-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2(1H)-one
4-amino-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2-one
480434-79-5
AC-1416
AC1L1TZZ
AC1Q6C34
BCH 189
BCH-189
BCH-790
BCH189
BIDD:GT0033
Bio-0652
C07065
C8H11N3O3S
CCRIS 9274
CHEBI:133986
CHEMBL141
CID60825
CPD000466319
D00353
D019259
 
DB00709
DRG-0126
DTHC
Epivir
Epivir (TN)
Epivir(TM)
Epivir-HBV
Epzicom
FT-0082667
GG-714
GR 109714X
GR-109714X
GR109714X
HHA & 3TC
HHA & Lamivudine
HMS2051D21
HSDB 7155
Hepitec
Heptivir
Heptodin
Heptovir
L0217
LMV
LS-2107
Lamivir
Lamivudin
Lamivudina
Lamivudine
Lamivudine & GNA
Lamivudine (JAN/USP/INN)
Lamivudine [USAN:BAN:INN]
Lamivudine [USAN:INN:BAN]
Lamivudine [Usan:Ban:Inn]
Lamivudine, (2S-cis)-Isomer
Lamivudinum
MLS000759424
MLS001424097
MolPort-002-507-347
NCGC00159341-03
NCGC00159341-04
NSC620753
S1706_Selleck
SAM001246582
SAM002589994
SMR000466319
STK801940
UNII-2T8Q726O95
ZINC00012346
Zeffix
Zefix
beta-L-2',3'-Dideoxy-3'-thiacytidine
beta-L-3'-Thia-2',3'-dideoxycytidine
lamivudine
12
LopinavirPhase 4, Phase 3, Phase 1343192725-17-092727
Synonyms:
(1S-(1R*(R*),3R*,4R*))-N-(4-(((2,6-Dimethylphenoxy)acetyl)amino)-3-hydroxy-5-phenyl-1-(phenylmethyl)pentyl)tetrahydro-alpha-(1-methylethyl)-2-oxo-1(2H)-pyrimidineacetamide
(2S)-N-[(2S,4S,5S)-5-[[2-(2,6-dimethylphenoxy)acetyl]amino]-4-hydroxy-1,6-diphenylhexan-2-yl]-3-methyl-2-(2-oxo-1,3-diazinan-1-yl)butanamide
(alphaS)-Tetrahydro-N-((alphaS)-alpha-((2S,3S)-2-hydroxy-4-phenyl-3-(2-(2,6-xylyloxy)acetamido)butyl)phenethyl)-alpha-isopropyl-2-oxo-1(2H)-pyrimidineacetamide
1(2H)-Pyrimidineacetamide, N-[(1S,3S,4S)-4-[[(2,6-dimethylphenoxy)acetyl]amino]-3-hydroxy-5-phenyl-1-(phenylmethyl)pentyl]tetrahydro-alpha-(1-methylethyl)-2-oxo-, (alphaS)- (9CI)
192725-17-0
1mui
2o4s
2q5k
2rkf
2rkg
A 157378
A 157378.0
A-157378-0
A-157378.0
AB1
ABT 157378
ABT 378
ABT-378
ABT-378, LOPINAVIR
AC1L3OPJ
AIDS032937
 
Aluviran
C12871
C37H48N4O5
CHEBI:40456
CHEMBL729
CID92727
D01425
DB01601
Koletra
LPV
LS-173766
Lopinavir
Lopinavir (JAN/USAN/INN)
Lopinavir [USAN:INN:BAN]
MolPort-003-848-410
N-(4-(((2,6-dimethylphenoxy)acetyl)amino)-3-hydroxy-5-phenyl-1-(phenylmethyl)pentyl)tetrahydro-alpha-(1-methylethyl)-2-oxo-1(2H)-pydrimidineacetamide
N-{1-BENZYL-4-[2-(2,6-DIMETHYL-PHENOXY)-ACETYLAMINO]-3-HYDROXY-5-PHENYL-PENTYL}-3-METHYL-2-(2-OXO-TETRAHYDRO-PYRIMIDIN-1-YL)-BUTYRAMIDE
NCGC00164576-01
NCGC00164576-02
RS-346
S1380_Selleck
UNII-2494G1JF75
13
TestosteronePhase 452458-22-06013
Synonyms:
(+)-testosterone
(+-)-8-iso-testosterone
(+-)-retrotestosterone
(+-)-testosterone
(17b)-17-hydroxy-androst-4-en-3-one
(17beta)-17-Hydroxyandrost-4-en-3-one
(8R,9S,10R,13S,14S,17S)-17-hydroxy-10,13-dimethyl-1,2,6,7,8,9,11,12,14,15,16,17-dodecahydrocyclopenta[a]phenanthren-3-one
13-Iso-testosterone
17-Hydroxy-(17-beta)-androst-4-en-3-one
17-Hydroxy-(17beta)-androst-4-en-3-one
17-Hydroxy-10,13-dimethyl-1,2,6,7,8,9,10,11,12,13,14,15,16,17-tetradecahydro-cyclopenta[a]phenanthren-3-one
17-Hydroxy-D4-androsten-3-one
17-Hydroxy-androst-4-en-3-one
17-beta-Hydroxy-delta(sup 4)-androsten-3-one
17-beta-Hydroxyandrost-4-en-3-one
17?-Hydroxy-4-androsten-3-one
17a-Hydroxy-(13a)-androst-4-en-3-one
17a-Hydroxy-13a-androst-4-en-3-one
17a-Hydroxy-14b-androst-4-en-3-one
17a-Hydroxy-androst-4-en-3-one
17b-Hydroxy-(10a)-androst-4-en-3-one
17b-Hydroxy-(13a)-androst-4-en-3-one
17b-Hydroxy-(8a)-androst-4-en-3-one
17b-Hydroxy-(8a,10a)-androst-4-en-3-one
17b-Hydroxy-(9b)-androst-4-en-3-one
17b-Hydroxy-(9b,10a)-androst-4-en-3-one
17b-Hydroxy-13a-androst-4-en-3-one
17b-Hydroxy-8a-androst-4-en-3-one
17b-Hydroxy-D4-androsten-3-one
17b-Hydroxy-androst-4-en-3-on
17b-Hydroxy-androst-4-en-3-one
17b-Hydroxyandrost-4-en-3-one
17b-Hydroxyandrost-4-ene-3-one
17b-Testosterone
17b-hydroxy-4-androsten-3-one
17beta-Hydroxy-3-oxo-4-androstene
17beta-Hydroxy-4-androsten-3-one
17beta-Hydroxy-delta(sup4)-androsten-3-one
17beta-Hydroxyandrost-4-en-3-one
17beta-Hydroxyandrost-4-ene-3-one
17beta-hydroxy-4-androsten-3-one
4-Androsten-17?-ol-3-one
4-Androsten-17beta-ol-3-one
4-Androsten-3-one-17b-ol
4-androsten-17β-ol-3-one
4-androstene-17beta-ol-3-one
46923_FLUKA
46923_RIEDEL
58-22-0
7-beta-Hydroxyandrost-4-en-3-one
8-Iso-testosterone
9b,10a-Testosterone
9b-Testosterone
AA 2500
AC-14899
AC1L1LM0
Andriol
Andro
Andro 100
Andro L.A. 200
AndroGel
Androderm
Androderm (TN)
Androgel
Androgel (TN)
Android 10
Android 25
Android 5
Androlin
Andronaq
Andronate 100
Andronate 200
Andropatch
Andropository 200
Androsorb
Androst-4-en-17b-ol-3-one
Androst-4-en-17beta-ol-3-one
Androst-4-ene-17b-ol-3-one
Andrusol
Andryl 200
B5DEE83F-632B-48A1-A0ED-A51E7F13DF2E
BIDD:ER0555
BIM-0061761.0001
Beta Testosterone
Bio-0678
Bio-T-Gel
C00535
CCRIS 574
CDB 111C
CHEBI:17347
CHEMBL386630
CID6013
CMC_13449
COL 1621
CP 601B
CPD000058344
Cristerona T
Cristerone T
D00075
D4-Androsten-17b-ol-3-one
DB00624
Dea No. 4000
Delatest
Delatestryl
Depo-Testadiol
Depo-Testosterone
Depo-Testosterone Cypionate
Depotest
EINECS 200-370-5
Epitestosteron
Everone 200
Geno-Cristaux Gremy
Geno-cristaux Gremy
Geno-cristaux gremy
HMS2052N11
HSDB 3398
Halotensin
Homosteron
Homosterone
 
Intrinsa
LMST02020002
LS-148813
LibiGel
Libigel
Lumitestosteron
MLS000563091
MLS001032098
MLS001306401
MLS002174283
Malerone
Malestrone
Malestrone (amps)
Malogen in Oil
Malogen, Aquaspension Injection
Malogen, aquaspension injection
Mertestate
Metandren
Methyltestosterone
MolPort-002-506-901
NCGC00091018-01
NSC 9700
Neo-Hombreol F
Neo-Testis
Neo-testis
Neotestis
Oreton
Oreton F
Oreton Methyl
Oreton-F
Orquisteron
Perandren
Percutacrine Androgenique
Percutacrine androgenique
Primotest
Primoteston
Rac-17b-hydroxy-(13a)androst-4-en-3-one
Rac-17b-hydroxy-(8a)-androst-4-en-3-one
Rac-17b-hydroxy-(9b,10a)androst-4-en-3-one
Rac-17b-hydroxy-androst-4-en-3-one
Relibra
Retrotestosterone
S00309
S2033_Selleck
SAM001246921
SMR000058344
SMR001261453
Scheinpharm Testone-Cyp
Striant
Striant (TN)
Sustanon
Sustanone
Sustason 250
Synandrol F
T-Cypionate
T1500_SIGMA
T5411_FLUKA
T5411_SIGMA
TES
Teslen
Testamone 100
Testandrone
Testaqua
Testiculosterone
Testim
Testim (TN)
Testobase
Testoderm
Testoderm Tts
Testogel
Testoject-50
Testolent
Testolin
Testopel Pellets
Testopropon
Testosteroid
Testosteron
Testosterona
Testosterona [INN-Spanish]
Testosterone
Testosterone (JAN/USP)
Testosterone Cypionate
Testosterone Enanthate
Testosterone Hydrate
Testosterone [Androgenic steroids, anabolic]
Testosterone [INN:BAN]
Testosterone and its esters
Testosterone hydrate
Testosterone solution
Testosteronum
Testosteronum [INN-Latin]
Testostosterone
Testostérone
Testoviron
Testoviron Schering
Testoviron T
Testoxyl
Testred
Testred Cypionate 200
Testrin-P.A
Testro AQ
Testro Aq
Testrone
Testryl
Tostrelle
Tostrex
Trans-Testosterone
UNII-3XMK78S47O
Viatrel
Virilon
Virilon IM
Virormone
Virosterone
ZINC06500184
beta testosterone
delta(sup 4)-Androsten-17(beta)-ol-3-one
delta4-Androsten-17beta-ol-3-one
delta4-androsten-17b-ol-3-one
testosterone
trans-Testosterone
14
MethyltestosteronePhase 452458-18-46010
Synonyms:
17(alpha)-Methyl-delta(4)-androsten-17(beta)-ol-3-one
17-Methyltestosterone
17-beta-Hydroxy-17-methylandrost-4-en-3-one
17-methyltestosterone
17alpha-Methyl-3-oxo-4-androsten-17beta-ol
17alpha-Methyl-delta(4)-androsten-17beta-ol-3-one
17alpha-Methyltestosterone
17alpha-methyl-delta-androsten-17beta-ol-3-one
17alpha-methyltestosterone
 
17beta-Hydroxy-17-methylandrost-4-en-3-one
17α-methyl-Δ4-androsten-17β-ol-3-one
17α-methyltestosterone
4-Androstene-17alpha-methyl-17beta-ol-3-one
Android
Methyltestosterone
Methyltestosteronum
Metiltestosterona
NSC-9701
Testred
Virilon
15
AspirinPhase 4, Phase 1107450-78-22244
Synonyms:
11126-35-5
11126-37-7
1oxr
2-(ACETYLOXY)benzoic acid
2-(Acetyloxy)benzoate
2-(Acetyloxy)benzoic acid
2-Acetoxybenzenecarboxylic acid
2-Acetoxybenzoate
2-Acetoxybenzoic acid
2-Carboxyphenyl acetate
2349-94-2
26914-13-6
50-78-2
8-hour Bayer
98201-60-6
A 5376
A.S.A
A.S.A.
A.S.A. Empirin
A.S.A. empirin
A2093_SIGMA
A3160_SIGMA
A5376_SIGMA
A6810_SIGMA
AB1003266
AC 5230
AC1L1D8U
AC1Q1LA0
ACETYLSALICYLIC ACID
AI3-02956
AIN
AKOS000118884
ASA
Acenterine
Acesal
Acetal
Acetard
Aceticyl
Acetilsalicilico
Acetilum acidulatum
Acetisal
Acetol
Acetonyl
Acetophen
Acetosal
Acetosalic acid
Acetosalin
Acetoxybenzoic acid
Acetylin
Acetylsal
Acetylsalicylate
Acetylsalicylic acid
Acetylsalicylsaeure
Acetylsalicylsaure
Acetylsalycilic acid
Acetyonyl
Acetysal
Acetysalicylic acid
Acide 2-(acetyloxy)benzoique
Acide acetylsalicylique
Acide acétylsalicylique
Acido O-acetil-benzoico
Acido acetilsalicilico
Acidum acetylsalicylicum
Acimetten
Acisal
Acylpyrin
Adiro
Aloxiprimum
Asacard
Asagran
Asatard
Ascoden-30
Aspalon
Aspec
Aspergum
Aspir-Mox
Aspirdrops
Aspirin
Aspirin (JP15/USP)
Aspirin [BAN:JAN]
Aspirina 03
Aspirine
Asprin
Aspro
Aspro Clear
Asteric
Azetylsalizylsaeure
Azetylsalizylsäure
BIDD:GT0118
BRN 0779271
Bay-e-4465
Bayer
Bayer Aspirin 8 Hour
Bayer Buffered
Bayer Extra Strength Aspirin For Migraine Pain
Bayer Plus
Benaspir
Bi-prin
Bialpirina
Bialpirinia
Bufferin
C01405
CCRIS 3243
CHEBI:15365
CHEMBL25
CID2244
Caprin
Cardioaspirin
Cardioaspirina
Cemirit
Claradin
Clariprin
Colfarit
Contrheuma retard
Coricidin
Crystar
D00109
D001241
DB00945
Decaten
Delgesic
Dispril
DivK1c_000555
Dolean pH 8
Duramax
ECM
EINECS 200-064-1
EU-0100038
Easprin
Easprin (TN)
Ecolen
Ecotrin
Empirin
Empirin with Codeine
Endosprin
Endydol
 
Entericin
Enterophen
Enterosarein
Enterosarine
Entrophen
Extren
Globentyl
Globoid
HMS1920E13
HMS2090G03
HMS2091K13
HMS501L17
HSDB 652
Helicon
I14-7505
IDI1_000555
Idragin
Istopirin
KBio1_000555
KBio2_001725
KBio2_002271
KBio2_004293
KBio2_004839
KBio2_006861
KBio2_007407
KBio3_002149
KBio3_002751
KBioGR_000398
KBioGR_002271
KBioSS_001725
KBioSS_002272
Kapsazal
Kyselina 2-acetoxybenzoova
Kyselina acetylsalicylova
LS-143
Levius
Lopac-A-5376
Lopac0_000038
MLS001055329
MLS001066332
MLS001336045
MLS001336046
Magnecyl
Measurin
Medisyl
Micristin
MolPort-000-871-622
NCGC00015067-01
NCGC00015067-04
NCGC00015067-09
NCGC00090977-01
NCGC00090977-02
NCGC00090977-03
NCGC00090977-04
NCGC00090977-05
NCGC00090977-06
NCGC00090977-07
NCI60_002222
NINDS_000555
NSC 27223
NSC27223
NSC406186
Neuronika
Novid
Nu-seals
Nu-seals aspirin
O-(Acetyloxy)benzoate
O-(Acetyloxy)benzoic acid
O-Acetoxybenzoate
O-Acetoxybenzoic acid
O-Acetylsalicylic acid
O-Carboxyphenyl acetate
O-accetylsalicylic acid
O-acetylsalicylic acid
PL-2200
Persistin
Pharmacin
Pirseal
Polopirin
Polopiryna
Premaspin
R16CO5Y76E [UNII]
Rheumin tabletten
Rheumintabletten
Rhodine
Rhonal
Ronal
S-211
SMR000059138
SP 189
SPBio_001838
SPECTRUM1500130
ST075414
Salacetin
Salcetogen
Saletin
Salicylic acid acetate
Salicylic acid, acetate
Salospir
Solfrin
Solprin
Solprin acid
Solpyron
Solupsan
Spectrum2_001899
Spectrum3_001295
Spectrum4_000099
Spectrum5_000740
Spectrum_001245
Spira-Dine
St. Joseph
St. Joseph Aspirin for Adults
Supac
Tasprin
Temperal
Toldex
Triaminicin
Triple-sal
UNII R16CO5Y76E
UNII-R16CO5Y76E
UNII=R16CO5Y76E
UNM-0000306102
Vanquish
WLN: QVR BOV1
XAXA
Xaxa
Yasta
ZORprin
aspirin
cMAP_000006
component of Midol
component of Synirin
nchem.859-comp6
o-Acetoxybenzoic acid
o-Carboxyphenyl acetate
o-acetoxybenzoic acid
o-carboxyphenyl acetate
ácido acetilsalicílico
16
ClopidogrelPhase 4, Phase 1733120202-66-6, 113665-84-260606
Synonyms:
( )-(S)-Clopidogrel
(+)-(S)-Clopidogrel
(+)-Clopidogrel
(S)-Clopidogrel
(S)-Methyl 2-(2-chlorophenyl)-2-(6,7-dihydrothieno[3,2-c]pyridin-5(4H)-yl)acetate
113665-84-2
AC-19024
AC1L1TKZ
AC1Q41I9
BIDD:GT0284
BRD-K27721098-065-02-9
BSPBio_003211
C16H16ClNO2S
CGE
CHEBI:37941
CHEMBL1771
CID60606
CLOPIDOGREL SULFATE
CPD000550475
Clopidogrel
Clopidogrel (INN)
Clopidogrel (TN)
Clopidogrel [BAN:INN]
Clopidogrel [Ban:Inn]
Clopidogrel [INN:BAN]
Clopidogrel bisulfate
Clopidogrel bisulphate
Clopidogrel sulfate
Clopidogrelum
D07729
DB00758
DivK1c_000787
HMS2090O21
HMS502H09
HSDB 7430
IDI1_000787
 
Isocover
KBio1_000787
KBio2_000545
KBio2_003113
KBio2_005681
KBio3_002431
KBioGR_000689
KBioSS_000545
LS-172232
MLS001165708
MLS001195633
MLS001304711
Methyl (+)-(S)-alpha-(o-chlorophenyl)-6,7-dihydrothieno(3,2-c)pyridine-5(4H)-acetate
MolPort-002-885-817
MolPort-003-845-991
NCGC00163329-02
NINDS_000787
Plavix
Plavix (TN)
SAM002589956
SMR000550475
SPBio_000463
SR 25990
STK580572
STOCK5S-27782
Spectrum2_000512
Spectrum3_001606
Spectrum4_000175
Spectrum_000105
TL8000400
UNII-A74586SNO7
Zyllt
clopidogrel
clopidogrel, (+)(S)-isomer
methyl (2S)-(2-chlorophenyl)(6,7-dihydrothieno[3,2-c]pyridin-5(4H)-yl)ethanoate
methyl (2S)-2-(2-chlorophenyl)-2-(6,7-dihydro-4H-thieno[3,2-c]pyridin-5-yl)acetate
nchem.651-comp8
17
HydrochlorothiazidePhase 4, Phase 339858-93-53639
Synonyms:
125727-50-6
3,4-Dihydro-6-chloro-7-sulfamyl-1,2, 4-benzothi
3,4-Dihydrochlorothiazide
58-93-5
6-Chloro-7-sulfamoyl-3, 4-dihy
8049-49-8
AB00052012
AC-11072
AC1L1GDT
AC1Q55FM
AF-614/30832002
AKOS000121373
ARONIS24316
Acesistem
Acuilix
Acuretic
Aldactazide
Aldactazide 25/25
Aldazida
Aldectazide 50/50
Aldoril
Ambap58-93-5
Apo-Hydro
Apresazide
Aquarills
Aquarius
Aquazide H
Aquazide-H
BAS 00371709
BIDD:GT0153
BPBio1_000019
BRD-K13078532-001-05-2
BRN 0625101
BSPBio_000017
BSPBio_002132
Bio-0714
Bremil
Briazide
C7H8ClN3O4S2
CAS-58-93-5
CCRIS 2082
CHEMBL435
CID3639
CPD000035778
Caplaril
Capozide
Carozide
Catiazida
Chlorizide
Chlorosulthiadil
Chlorothiazide
Chlorsulfonamidodihydrobenzothiadiazine dioxide
Chlorzide
Chlothia
Cidrex
Clorana
Component of Butizide Prestabs
Concor Plus
Condiuren
D00340
D006852
DB00999
Diaqua
Dichlorosal
Dichlorotride
Dichlothiazide
Dichlotiazid
Dichlotride
Diclotride
Dicyclotride
Didral
Dihydran
Dihydrochlorothiazid
Dihydrochlorothiazide
Dihydrochlorothiazidum
Dihydrochlorurit
Dihydrochlorurite
Dihydroxychlorothiazidum
Direma
Disalunil
Disothiazid
Diu 25 Vigt
Diu-Melusin
Diu-melusin
Diuril
Diurogen
DivK1c_000289
Dixidrasi
Drenol
Dyazide
EINECS 200-403-3
EU-0100614
Esidrex
Esidrix
Esidrix (TN)
Esimil
Esoidrina
FT-0082750
Fluvin
H 4759
H1274
H2910_SIAL
H4759_SIAL
HCT
HCT-Isis
HCTZ
HCZ
HMS1568A19
HMS1920D19
HMS2091L05
HMS500O11
HMS553N04
HSDB 3096
Hidril
Hidro-Niagrin
Hidrochlortiazid
Hidroclorotiazida
Hidroclorotiazida [INN-Spanish]
Hidroronol
Hidrosaluretil
Hidrotiazida
Hyclosid
Hydrex-semi
Hydril
Hydro Par
Hydro-Aquil
Hydro-D
Hydro-Diuril
Hydro-Saluric
Hydro-T
Hydro-chlor
HydroDIURIL
Hydrochlorat
Hydrochloro Thiazide
Hydrochlorot
Hydrochlorothiazid
Hydrochlorothiazide
Hydrochlorothiazide (JP15/USP/INN)
Hydrochlorothiazide Intensol
Hydrochlorothiazide [INN:BAN:JAN]
 
Hydrochlorothiazidum
Hydrochlorothiazidum [INN-Latin]
Hydrochlorthiazide
Hydrochlorthiazidum
Hydrocot
Hydrodiuretic
Hydrodiuril
Hydropres
Hydrosaluric
Hydrothide
Hydrozide
Hydrozide Injection, Veterinary
Hypothiazid
Hypothiazide
Hytrid
Hyzaar
I09-0531
IDI1_000289
Idroclorotiazide
Idroclorotiazide [DCIT]
Idrotiazide
Inderide
Inderide 80/25
Indroclor
Ivaugan
Jen-Diril
KBio1_000289
KBio2_001357
KBio2_003925
KBio2_006493
KBio3_001352
KBioGR_000351
KBioSS_001357
LS-243
Lopac-H-4759
Lopac0_000614
Lopressor HCT
Lotensin HCT
Lotensin Hct
MLS000069619
Manuril
Maschitt
Maxzide
Maybridge Compound 10
Maybridge1_004336
Mazide 25 mg
Medozide
Megadiuril
Microzide
Microzide (TN)
Mictrin
Mikorten
Modurcen
Moduretic
MolPort-000-144-465
NCGC00015508-01
NCGC00015508-02
NCGC00015508-03
NCGC00015508-07
NCGC00015508-12
NCGC00021906-03
NCGC00021906-04
NCGC00021906-05
NCGC00021906-06
NCGC00021906-07
NCGC00021906-08
NCI-C55925
NCI60_004317
NINDS_000289
NSC 53477
NSC53477
Natrinax
Nefrix
Nefrol
Neo-Codema
Neo-Flumen
Neo-Minzil
Neo-codema
Neoflumen
Newtolide
Novodiurex
Oprea1_357174
Oretic
Pantemon
Panurin
Prestwick0_000009
Prestwick1_000009
Prestwick2_000009
Prestwick3_000009
Prestwick_263
Prinzide
Raunova Plus
Ro-Hydrazide
Ro-hydrazide
Roxane
S1708_Selleck
SAM002554901
SMR000035778
SPBio_001259
SPBio_001938
SPECTRUM1500335
STK315354
Saldiuril
Sectrazide
Selozide
Ser-Ap-Es
Servithiazid
Spectrum2_001040
Spectrum3_000456
Spectrum4_000006
Spectrum5_000824
Spectrum_000877
Spironazide
Su 5879
Tandiur
Thiaretic
Thiuretic
Thlaretic
Timolide
UNII-0J48LPH2TH
Unazid
Unipres
Urodiazin
Urozide
Vaseretic
Vetidrex
WLN: T66 BSWM EM DHJ HG ISZW
ZINC00896569
Ziac
Zide
adiazine-1,1-dioxide
component of Aldactazide
component of Aldoril
component of Caplaril
component of Cyclex
component of Dyazide
component of Esimil
diclot ride
dro-2H-1,2,4-benzothiadiazine 1,1-dioxide
hydrochlorothiazide
panurin dichloride
18
FurosemidePhase 4, Phase 318354-31-93440
Synonyms:
2-Furfurylamino-4-chloro-5-sulfamoylbenzoic acid
4-Chloro-5-sulfamoyl-N-furfuryl-anthranilic acid
4-Chloro-N-(2-furylmethyl)-5-sulfamoylanthranilic acid
4-Chloro-N-furfuryl-5-sulfamoylanthranilic acid
4-chloro-2-(furan-2-ylmethylamino)-5-sulfamoylbenzoic acid
4-chloro-2-[(furan-2-ylmethyl)amino]-5-sulfamoylbenzoic acid
41733-55-5 (mono-hydrochloride salt)
5-18-09-00555 (Beilstein Handbook Reference)
54-31-9
AB00052001
AC-11067
AC1L1FXW
AC1Q557O
AKOS000266625
ARONIS24304
Acetic acid potassium salt
Aisemide
Aldalix
Aldic
Aluzine
Anfuramaide
Apo-Frusemide
Apo-Furosemide
Aquarid
Aquasin
Arasemide
BIDD:GT0139
BPBio1_000443
BRD-K78010432-001-05-8
BRN 0840915
BSPBio_000401
BSPBio_002054
Beronald
Bio-0044
Bioretic
Bristab
Bristurin
C12H11ClN2O5S
CAS-54-31-9
CCRIS 1951
CHEBI:47426
CHEMBL35
CID3440
CPD000058202
Cetasix
Chlor-N-(2-furylmethyl)-5-sulfamylanthranilsaeure
Chlor-N-(2-furylmethyl)-5-sulfamylanthranilsaeure [German]
D00331
D005665
DB00695
DB07799
Depix
Desal
Desdemin
Di-Ademil
Dihydroflumethiazide
Dirine
Disal
Discoid
Disemide
Diucardin
Diumide-K
Diural
Diurapid
Diuretic Salt
Diuretic salt
Diurin
Diurolasa
Diusemide
Diusil
Diuzol
DivK1c_000575
Dranex
Dryptal
Durafurid
EINECS 200-203-6
Edemid
Edenol
Eliur
Elodrine
Endural
Errolon
Eutensin
F0182
F4381_SIGMA
FUN
FUROSEMIDE USP
Farsix
Finuret
Fluidrol
Fluss
Franyl
Frumex
Frumide
Frumil
Frusedan
Frusema
Frusemid
Frusemide
Frusemin
Frusenex
Frusetic
Frusid
Fu sid
Fulsix
Fuluvamide
Fuluvamine
Furanthril
Furanthryl
Furantral
Furantril
Furanturil
Furesis
Furetic
Furex
Furfan
Furix
Furmid
Furo-Basan
Furo-Puren
Furo-puren
Furobeta
Furocot
Furodiurol
Furodrix
Furomen
Furomex
Furomide M.D
Furomide M.D.
Furorese
Furosan
Furose
Furosedon
Furosemid
Furosemida
Furosemida [INN-Spanish]
Furosemide
Furosemide "mita"
Furosemide (JP15/USP/INN)
Furosemide Monohydrochloride
Furosemide Monosodium Salt
Furosemide [USAN:INN:JAN]
Furosemidu
Furosemidu [Polish]
Furosemidum
Furosemidum [INN-Latin]
Furosemix
Furoside
Furosifar
Furosix
Furoter
Furovite
Fursemid
Fursemida
Fursemide
Fursol
Fusid
Fusidic acid
 
Golan
HMS1569E03
HMS1920B03
HMS2090K06
HMS2091H05
HMS501M17
HSDB 3086
Hissuflux
Hoe-058A
Hydol
Hydrenox
Hydrex
Hydro
Hydro-Rapid
Hydro-rapid
Hydroled
I04-0179
IDI1_000575
Impugan
Jenafusid
KBio1_000575
KBio2_001580
KBio2_004148
KBio2_006716
KBio3_001274
KBioGR_001259
KBioSS_001580
Katlex
Kofuzon
Kolkin
Kutrix
LB 502
LB-502
LS-204
Lasemid
Lasex
Lasiletten
Lasilix
Lasix
Lasix (TN)
Lasix (tn)
Lasix Retard
Lasix Special
Lasix, Frusemide, Furosemide
Laxur
Lazix
Leodrine
Less Diur
Liside
Logirene
Lowpston
Lowpstron
Luscek
MLS001066374
MLS001306403
Macasirool
Marsemide
Metflorylthiazidine
Methforylthiazidine
Mirfat
Mita
Moilarorin
MolPort-001-641-065
Myrosemide
NCGC00016241-01
NCGC00090893-01
NCGC00090893-02
NCGC00090893-03
NCGC00090893-05
NCGC00090893-06
NCI-C55936
NINDS_000575
NSC 269420
NSC269420
Nadis
Nelsix
Neo-Renal
Neo-renal
Nephron
Nicorol
Novosemide
Octan Draselny
Octan draselny
Odemase
Odemex
Oedemex
Olmagran
Oprea1_667724
Osyrol
Polysquall A
Prefemin
Prestwick0_000341
Prestwick1_000341
Prestwick2_000341
Prestwick3_000341
Prestwick_752
Profemin
Promedes
Promide
Protargen
Puresis
Radisemide
Radonna
Radouna
Retep
Rodiuran
Rontyl
Rosemide
Rosis
Rusyde
S1603_Selleck
SAM002264614
SMP1_000129
SMR000058202
SPBio_001129
SPBio_002322
SPECTRUM1500310
STK177334
Sal Diureticum
Sal diureticum
Salinex
Salix
Salix (brand of furosemide)
Salurex
Salurid
Saluron
Seguril
Selectofur
Sigasalur
Sisuril
Spectrum2_001005
Spectrum3_000437
Spectrum4_000560
Spectrum5_000744
Spectrum_001100
Spirofur
Synephron
TL8003563
Transit
Trofurit
UNII-7LXU5N7ZO5
UPCMLD-DP022
UPCMLD-DP022:001
Uremide
Uresix
Urex
Urex-M
Urian
Uridon
Uritol
Urosemide
Vergonil
Vesix
WLN: T5OJ B1MR CG FVQ DSZW
Yidoli
Zafimida
fulvamide
furosemide
furosemide ''mita''
less Diur
19
IrbesartanPhase 4, Phase 399138402-11-63749
Synonyms:
138402-11-6
2-Butyl-3-(p-(o-1H-tetrazol-5-ylphenyl)benzyl)-1,3-diazaspiro(4.4)non-1-en-4-one
2-Butyl-3-[2'-(1H-tetrazol-5-yl)biphenyl-4-ylmethyl]1,3-diaza-spiro[4.4]non-1-en-4-one
2-Butyl-3-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1,3-diazaspiro[4.4]non-1-en-4-one
2-butyl-3-[ p -( o -1 H -tetrazol-5-ylphenyl)benzyl]-1,3-diazaspiro[4,4]non-1-en-4-one
2-butyl-3-[2'-(1h-tetrazol-5-yl)-biphenyl-4-ylmethyl]-1,3-diaza-spiro[
2-butyl-3-[2'-(1h-tetrazol-5-yl)biphenyl-4-ylmethyl]1,3-diaza-spiro[
2-butyl-3-[p-(o-1H-tetrazol-5-ylphenyl)benzyl]-1,3-diazaspiro[4.4]non-1-en-4-one
2-butyl-3-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1,3-diazaspiro[4.4]non-1-en-4-one
2-butyl-3-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1,3-diazaspiro[4.4]non-1-en-4-one
2-n-butyl-3-((2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl)-1,3-diazaspiro(4,4)non-1-en-4-one
8-butyl-7-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]-7,9-diazaspiro[4.4]non-8-en-6-one
AC-537
AC1L1GMK
Aprovel
Avalide
Avapro
Avapro (TN)
BIDD:GT0347
BMS 186295
BMS Brand of Irbesartan
BMS-186295
BMS-186295, SR-47436, Aprovel, Karvea, Irbesartan
BRD-K60038276-001-02-5
BSPBio_002687
Bio-0053
Bristol Myers Brand of Irbesartan
C07469
C081309
C25H28N6O
CHEBI:5959
CHEMBL1513
CID3749
CPD000466306
D00523
DB01029
HMS1922J05
HMS2051L08
HMS2093E16
 
I06-0690
Irbesarran
Irbesartan
Irbesartan (JAN/USAN/INN)
Irbesartan [USAN:INN]
Irbesartan [Usan:Inn]
Irbetan
Jsp002315
KBio2_002231
KBio2_004799
KBio2_007367
KBio3_001907
KBioGR_001603
KBioSS_002231
Karvea
L000319
LS-60064
Lrbesartan
MLS000759408
MLS001424099
MolPort-003-666-550
NCGC00095122-01
NCGC00095122-02
NCGC00095122-03
S1507_Selleck
SAM001246548
SMR000466306
SPBio_001889
SPECTRUM1504259
SR 47436
SR-47436
STK645362
Sanofi Winthrop Brand of Irbesartan
Spectrum2_001675
Spectrum3_000994
Spectrum4_001122
Spectrum5_001288
Spectrum_001751
TL8000875
UNII-J0E2756Z7N
irbesartan
20
RamiprilPhase 4, Phase 314987333-19-55362129
Synonyms:
(2 S ,3 aS ,6 aS )-1[( S )-N-[( S )-1-Carboxy-3-phenylpropyl] alanyl] octahydrocyclopenta [ b ]pyrrole-2-carboxylic acid, 1-ethyl ester
(2S,3aS,6aS)-1-((S)-2-((S)-1-ethoxy-1-oxo-4-phenylbutan-2-ylamino)propanoyl) octahydrocyclopenta[b]pyrrole-2-carboxylic acid
(2S,3aS,6aS)-1-((S)-N-((S)-1-Carboxy-3-phenylpropyl)alanyl)octahydrocyclopenta(b)pyrrole-2-carboxylic acid, 1-ethyl ester
(2S,3aS,6aS)-1-((S)-N-((S)-1-Ethoxycarbonyl-3-phenylpropyl)alanyl)octahydrocyclopenta(b)pyrrol-2-carbonsaeure
(2S,3aS,6aS)-1-[(2S)-2-[[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]-3,3a,4,5,6,6a-hexahydro-2H-cyclopenta[b]pyrrole-2-carboxylic acid
(2S,3aS,6aS)-1-[(2S)-2-{[(1S)-1-ethoxycarbonyl-3-phenylpropyl]amino}propanoyl]octahydrocyclopenta[b]pyrrole-2-carboxylic acid
(2S,3aS,6aS)-1-[(2S)-2-{[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino}propanoyl]octahydrocyclopenta[b]pyrrole-2-carboxylic acid (non-preferred name)
(2S-(1(R*(R*)),2alpha,3abeta,6abeta))-1-(2-((1-(Ethoxycarbonyl)-3-phenylpropyl)amino)-1-oxopropyl)octahydrocyclopenta(b)pyrrole-2-carboxylic acid.
(2S-(1(R*(r*)),2alpha,3abeta,6abeta))-1-(2-((1-(ethoxycarbonyl)-3-phenylpropyl)amino)-1-oxopropyl)octahydrocyclopenta(b)pyrrole-2-carboxylic acid
(2s,3as,6as)-1((s)-n-((s)-1-carboxy-3-phenylpropyl)alanyl)octahydrocyclopenta(b)pyrrole-2-carboxylic
(2s,3as,6as)-1-((s)-2-((s)-1-ethoxy-1-oxo-4-phenylbutan-2-ylamino)propanoyl)-octahydrocyclopenta[b]p
(2s,3as,6as)-1-[(s)-2-((s)-1-ethoxycarbonyl-3-phenyl-propylamino)-propionyl]-octahydro-cyclopenta[b]
126613-39-6
87333-19-5
AC-1347
AC1NSFPR
Acovil
Almirall Brand of Ramipril
Altace
Altace (TN)
Altace (tn)
Astra Brand of Ramipril
AstraZeneca Brand of Ramipril
Aventis Brand of Ramipril
Aventis Pharma Brand of Ramipril
BIDD:GT0803
BSPBio_003347
Bio-0651
C23H32N2O5
CHEBI:289203
CHEBI:8774
CHEMBL1168
CID5362129
CPD000466386
Carasel
Cardace
D00421
D017257
DB00178
Delix
HMS2051E04
HMS2090L11
HMS2093M10
HOE 498
HOE498
Hoe-498
Hoechst Brand of Ramipril
 
Hypren
Hytren
KBio2_002504
KBio2_005072
KBio2_007640
KBio3_002849
KBioGR_001858
KBioSS_002512
LS-58199
Lostapres
MLS000759523
MLS001216547
MLS001423965
MolPort-001-736-571
Monarch Brand of Ramipril
N-(1S-carboethoxy-3-phenylpropyl)-S-alanyl-cis,endo-2-azabicyclo[3.3.0]octane-3S-carboxylic Acid
NCGC00178127-01
Naprix
Pramace
Pramace (discontinued)
Promed Brand of Ramipril
Quark
R0404_SIGMA
Ramace
Ramipril
Ramipril (USP/INN)
Ramipril [USAN:INN:BAN]
Ramiprilum
Ramiprilum [Latin]
Ramipro, Tritace, Altace, Prilace, Ramipril
S1793_Selleck
SAM001246757
SAM002699899
SMR000466386
SPECTRUM1505214
STK801937
Spectrum3_001794
Spectrum4_001269
Spectrum5_001721
Spectrum_001958
Triatec
Tritace
UNII-L35JN3I7SJ
Unipril
Vesdil
Zabien
[2S,3aS,6aS]-1-[(2S)-2-[[(1S)-1-(Ethoxycarbonyl)-3-phenylpropyl]amino]-1-oxopropyl]octahydrocyclopenta[b]pyrrole-2-carboxylic acid
[2s,3as,6as]-1-[(2s)-2-[[(1s)-1-(ethoxycarbonyl)-3-phenylpropyl]amino]-1-oxopropyl]octahydrocyclopen
ramipril
21Estradiol valeratePhase 41250979-32-8
22
EstradiolPhase 4125050-28-25757, 53477783
Synonyms:
(+)-3,17b-Estradiol
(17b)-Estra-1,3,5(10)-triene-3,17-diol
(17beta)-Estra-1,3,5(10)-triene-3,17-diol
.alpha.-Estradiol
.alpha.-Oestradiol
.beta.-Estradiol
.beta.-Oestradiol
1,3,5[10]-Estratriene-3,17beta-diol 3-sulfate
1,3,5[10]-Estratriene-3,17beta-diol 3-sulphate
13b-Methyl-1,3,5(10)-gonatriene-3,17b-ol
17 beta-Estradiol
17-.BETA.-Estradiol
17-E
17-beta
17-beta-OH-estradiol
17-beta-estradiol
17.beta.-Estradiol
17.beta.-Oestradiol
17E
17b-Estradiol
17b-Oestradiol
17beta Oestradiol
17beta oestradiol
17beta-Estra-1,3,5(10)-triene-3,17-diol
17beta-Estradiol
17beta-Oestradiol
1jgl
1qkt
1qku
2d06
3,17-Epidihydroxyestratriene
3,17-beta-Estradiol
3,17-beta-Oestradiol
3,17.beta.-Estradiol
3,17b-Dihydroxyestra-1,3,5(10)-triene
3,17b-Estradiol
3,17beta-Estradiol
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulfate
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulphate
50-28-2
73459-61-7
873662-39-6
AC-10460
AC1L1L2K
Aerodiol
Agofollin
Alora
Altrad
Amnestrogen
Aquadiol
B-Estradiol
BEDOs
BIDD:ER0125
BIDD:PXR0065
BPBio1_000532
BSPBio_000482
BSPBio_001065
Bardiol
Benzhormovarine
Beta-estradiol
Bio-0812
Bio-E-Gel
Bio1_000403
Bio1_000892
Bio1_001381
Bio2_000363
Bio2_000843
C00951
C18H24O2
CCRIS 280
CHEBI:16469
CHEMBL135
CID5757
CMC_11154
CPD-352
CPD000059126
Climaderm
Climara
Climara (TN)
Climara Forte
Compudose
Compudose 200
Compudose 365
Corpagen
D-3,17beta-Estradiol
D-Estradiol
D-Oestradiol
D00105
DB00783
Dermestril
Destradiol
Dihydro-Theelin
Dihydrofollicular hormone
Dihydrofolliculin
Dihydromenformon
Dihydrotheelin
Dihydroxyesterin
Dihydroxyestrin
Dihydroxyoestrin
Dimenformon
Diogyn
Diogynets
Divigel
Divigel (TN)
E 2
E 8875
E(sub 2)
E0025
E1024_SIGMA
E1132_SIGMA
E2257_SIGMA
E2758_SIGMA
E8875_SIGMA
EINECS 200-023-8
EU-0100503
Elestrin
Encore
Epiestriol 50
Esclim
Estra-1,3,5(10)-triene-3,17b-diol
Estrace
Estrace (TN)
Estraderm
Estraderm (TN)
Estraderm MX
Estraderm TTS
Estraderm TTS 100
Estraderm TTS 50
Estradiol
Estradiol [USAN:INN]
Estradiol-17 beta
Estradiol-17-beta
Estradiol-17.beta.
Estradiol-17beta
Estradiol-3,17beta
Estradiolo
Estradiolo [DCIT]
Estradiolum
Estradiolum [INN]
Estradot
Estraldine
Estrapak 50
Estrasorb
Estrasorb (TN)
Estreva
Estrifam
Estring
Estring (TN)
Estring Vaginal Ring
Estring vaginal ring
Estroclim
Estroclim 50
Estrodiolum
Estrofem 2
Estrofem Forte
Estrogel
 
Estrogel (TN)
Estrogel HBF
Estrovite
Evamist
Evorel
Extrasorb
Femanest
Femestral
Femestrol
Femogen
Fempatch
Femtrace
Femtran
Follicyclin
Gelestra
Ginedisc
Ginosedol
GynPolar
Gynergon
Gynestrel
Gynodiol
Gynoestryl
HMS1362E07
HMS1569I04
HMS1792E07
HMS1990E07
HMS2051C17
HMS2090E18
HSDB 3589
IDI1_002118
Innofem
Innofem (TN)
KBio2_000405
KBio2_002269
KBio2_002973
KBio2_004837
KBio2_005541
KBio2_007405
KBio3_000769
KBio3_000770
KBio3_002749
KBioGR_000405
KBioGR_002269
KBioSS_000405
KBioSS_002270
LMST02010001
LS-137
Lamdiol
Lio-Oid
Lopac0_000503
MLS000069494
MLS000758312
MLS001076331
Macrodiol
Macrol
Menest
Menorest
Menostar
Microdiol
MolPort-001-794-632
NCGC00091544-00
NCGC00091544-01
NCGC00091544-02
NCGC00091544-04
NCGC00091544-05
NCGC00091544-06
NCGC00091544-07
NCGC00091544-08
NCGC00091544-09
NCGC00091544-12
NCGC00179321-01
NCGC00179321-02
NSC-9895
NSC9895
Nordicol
Oesclim
Oestergon
Oestra-1,3,5(10)-triene-3,17b-diol
Oestradiol
Oestradiol Berco
Oestradiol R
Oestradiol-17-beta
Oestradiol-17.beta.
Oestradiol-17beta
Oestradiolum
Oestrogel
Oestroglandol
Oestrogynal
Ovahormon
Ovasterol
Ovastevol
Ovociclina
Ovocyclin
Ovocycline
Ovocylin
Perlatanol
Polyestradiol
Prestwick0_000441
Prestwick1_000441
Prestwick2_000441
Prestwick3_000441
Prestwick_207
Primofol
Profoliol
Profoliol B
Progynon
Progynon DH
Progynon-DH
S-21400
S1709_Selleck
SAM001247032
SK-Estrogens
SL-1100
SMP1_000121
SMR000059126
SPBio_002421
Sandrena 1
Sandrena Gel
Sisare Gel
Spectrum5_002055
Syndiol
Systen
Tradelia
Trial SAT
Trocosone
UNII-4TI98Z838E
VIVELLE-DOT
Vagifem
Vagifem (TN)
Vivelle
Vivelle (TN)
Zerella
Zesteem
Zesteen
Zumenon
[2,4,6,7-3H]-E2
[3H]-estradiol
[3H]]estradiol
b-Estradiol
beta-Estradiol
beta-Estradiol 3-sulfate
beta-Estradiol 3-sulphate
bmse000642
cMAP_000005
cis-Estradiol
cis-Oestradiol
component of Menrium
delta-Estradiol
delta-Oestradiol
estradiol
estradiol-17beta
nchembio.168-comp3
nchembio.76-comp2
nchembio775-comp2
nchembio794-comp6
nchembio860-comp1
progynon
23Epoetin alfaPhase 4638113427-24-0
24
DoxazosinPhase 4, Phase 35674191-85-83157
Synonyms:
1-(4-Amino-6,7-Dimethoxy-2-quinazolinyl)-4-(1,4-benzodioxan-2-ylcarbonyl)piperazin
1-(4-Amino-6,7-dimethoxy-2-chinazolinyl)-4-(2,3-dihydro-1,4-benzodioxixin-2-ylcarbonyl)piperazin
1-(4-Amino-6,7-dimethoxy-2-quinazolinyl)-4-(1,4-benzodioxan-2-ylcarbonyl)piperazin
1-(4-Amino-6,7-dimethoxy-2-quinazolinyl)-4-[4-(1,4-benzodioxan-2-yl)carpiperazin-1-yl)]-6,7-dimethoxyquinazoline mesylate
2-[4-(2,3-dihydro-1,4-benzodioxin-2-ylcarbonyl)piperazin-1-yl]-6,7-bis(methyloxy)quinazolin-4-amine
2-[4-(2,3-dihydro-1,4-benzodioxin-2-ylcarbonyl)piperazin-1-yl]-6,7-dimethoxyquinazolin-4-amine
2-{4-[(2,3-dihydro-1,4-benzodioxin-2-yl)carbonyl]piperazin-1-yl}-6,7-dimethoxyquinazolin-4-amine
74191-85-8
77883-43-3 (mesylate)
AC-11062
AC1L1FAT
AC1Q470P
AC1Q4EXN
AKOS001681453
BPBio1_000963
BRD-A13188892-066-03-3
BSPBio_000875
C06970
C23H25N5O5
CHEBI:4708
CHEMBL707
CID3157
CPD000097306
Cardura XL (TN)
Cardura-1
Cardura-2
Cardura-4
ChemDiv2_005017
D07874
D9815_SIGMA
DB00590
Doxazosin
 
Doxazosin (INN)
Doxazosin [INN:BAN]
Doxazosin mesilate
Doxazosin mesylate
Doxazosina
Doxazosina [Spanish]
Doxazosine
Doxazosine [French]
Doxazosinum
Doxazosinum [Latin]
HMS1383E01
HMS2090C20
I06-1346
IDI1_003732
L000738
LS-110228
Lopac0_000474
MolPort-001-684-491
NCGC00018158-06
NCGC00089775-02
Normothen
Oprea1_259518
Prestwick0_000858
Prestwick1_000858
Prestwick2_000858
Prestwick3_000858
SAM002589981
SPBio_002796
UK 33274
UK-33274
UNII-NW1291F1W8
[4-(4-amino-6,7-dimethoxyquinazolin-2-yl)piperazin-1-yl]-(2,3-dihydro-1,4-benzodioxin-3-yl)methanone
doxazosin
25
AdenosinePhase 4, Phase 238858-61-760961
Synonyms:
(2R,3R,4S,5R)-2-(6-Aminopurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3R,4S,5R)-2-(6-amino-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-D-Ribofuranose
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-delta-Ribofuranose
1odi
2fqy
2gl0
30143-02-3
4-Aminopyrazolo[3,4-d]pyrimidine ribonucleoside
46946-45-6
46969-16-8
58-61-7
6-Amino-9-.beta.-ribofuranosyl-9H-purine
6-Amino-9-beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-delta-ribofuranosyl-9H-purine
9-(beta-D-Arabinofuranosyl)adenine
9-beta-D-Arabinofuranosyladenine
9-beta-D-Ribofuranosidoadenine
9-beta-D-Ribofuranosyl-9H-purin-6-amine
9-beta-D-Ribofuranosyladenine
9-beta-delta-Arabinofuranosyladenine
9-beta-delta-Ribofuranosidoadenine
9-beta-delta-Ribofuranosyl-9H-purin-6-amine
9-beta-delta-Ribofuranosyladenine
9beta-D-Ribofuranosyladenine
9beta-D-ribofuranosyl-9H-Purin-6-amine
9beta-delta-Ribofuranosyladenine
9beta-delta-ribofuranosyl-9H-Purin-6-amine
A0152
A4036_SIGMA
A9251_SIGMA
AC1L1U8O
AC1Q1ID3
AC1Q52XU
ADN
AI3-52413
Ade-Rib
Ade-rib
Adenin riboside
Adenine 9-beta-D-arabinofuranoside
Adenine deoxyribonucleoside
Adenine nucleoside
Adenine riboside
Adenine-9-beta-D-ribofuranoside
Adenine-9beta-D-Ribofuranoside
Adenine-9beta-delta-Ribofuranoside
Adenocard
Adenocard (TN)
Adenocard, Adenosine
Adenocor
Adenoscan
Adenoscan (TN)
Adenosin
Adenosin [German]
Adenosina
Adenosine (JAN/USP)
Adenosine [USAN:BAN]
Adenosine, homopolymer
Adenosinum
Adensoine
Adenyldeoxyriboside
Ado
Adénosine
BB_NC-0565
BSPBio_001796
Bio1_000437
 
Bio1_000926
Bio1_001415
Boniton
C00212
CCRIS 2557
CHEBI:16335
CHEMBL477
CID60961
Caswell No. 010B
D000241
D00045
DB00640
Deoxyadenosine
Desoxyadenosine
EA6C60C2-6AFB-4264-A2F0-541373DB950E
EINECS 200-389-9
FT-0082881
HMS1920A13
HMS2091G13
KBio3_001296
LS-15085
MEDR-640
MLS000069638
MLS002153227
MolPort-001-838-229
Myocol
NCGC00023673-03
NCGC00023673-04
NCGC00023673-05
NCGC00023673-06
NCGC00023673-07
NSC 627048
NSC 7652
NSC627048
NSC7652
Nucleocardyl
Pallacor
Polyadenosine
Polyriboadenosine
S1647_Selleck
SDCCGMLS-0003108.P003
SMR000058216
SPBio_001194
SPECTRUM1500107
SR 96225
SR-96225
SUN-Y4001
Sandesin
Spectrum2_001257
Spectrum3_000288
TL8003749
UNII-K72T3FS567
USAF CB-10
V0098
Vidarabine
ZINC02169830
adenine-D-ribose
adenosine
b-D-Adenosine
beta-Adenosine
beta-D-Adenosine
beta-D-Ribofuranoside, adenine-9
beta-delta-Adenosine
bmse000061
nchembio.143-comp9
nchembio.186-comp109
nchembio.2007.56-comp13
nchembio.64-comp4
nchembio706-5
26
GemfibrozilPhase 4, Phase 2, Phase 12325812-30-03463
Synonyms:
1A Brand of Gemfibrozil
2,2-Dimethyl-5-(2,5-dimethylphenoxy)pentanoic acid
2,2-Dimethyl-5-(2,5-dimethylphenoxy)valeriansaeure
2,2-Dimethyl-5-(2,5-xylyloxy)valeriansaeure
2,2-Dimethyl-5-(2,5-xylyloxy)valeric acid
25812-30-0
5-(2,5-Dimethyl-Phenoxy)-2,2-Dimethyl-Pentanoic Acid
5-(2,5-Dimethylphenoxy)-2,2-dimethylpentanoic acid
5-[(2,5-dimethylphenyl)oxy]-2,2-dimethylpentanoic acid
AB00052003
AC-4225
AC1L1FZT
AC1Q2JC7
AKOS001606691
ARONIS24091
Alphapharm Brand of Gemfibrozil
Apo Gemfibrozil
Apo-Gemfibrozil
ApoGemfibrozil
Apotex Brand of Gemfibrozil
Ausgem
BB_SC-4837
BPBio1_000251
BRD-K11129031-001-05-1
BRN 1881200
BSPBio_000227
BSPBio_002060
Bayvit Brand of Gemfibrozil
Bayvit, Gemfibrozilo
Bexal Brand of Gemfibrozil
Biochemie Brand of Gemfibrozil
Bolutol
Brozil
Bull Brand of Gemfibrozil
CAS-25812-30-0
CCRIS 318
CHEBI:5296
CHEMBL457
CI 719
CI-719
CI719
CID3463
CPD000058393
Cantabria Brand of Gemfibrozil
Chem mart Brand of Gemfibrozil
Chem mart Gemfibrozil
Cholespid
Clearol
D00334
D015248
DB01241
DBL Gemfibrozil
Decrelip
DivK1c_000138
Douglas Brand of Gemfibrozil
EINECS 247-280-2
Elmogan
Farmasierra Brand of Gemfibrozil
Faulding Brand of Gemfibrozil
Ferrer Brand of Gemfibrozil
Fetinor
Fibratol
Fibrocit
G9518_SIGMA
GEMFIBROZIL (SEE ALSO PEROXISOME PROJECT (GEMFIBROZIL))
GFZ
Gem-S
Gemcor, Lopid, Jezil, Gen-Fibro, Gemfibrozil
Gemd
Gemfi 1A Pharma
Gemfibril
Gemfibromax
Gemfibrosil
Gemfibrozil
Gemfibrozil (JAN/USP/INN)
Gemfibrozil [USAN:BAN:INN]
Gemfibrozil, GenRX
Gemfibrozil, Healthsense
Gemfibrozil, SBPA
Gemfibrozilo
Gemfibrozilo Bayvit
Gemfibrozilo Bexal
Gemfibrozilo Ur
Gemfibrozilo [INN-Spanish]
Gemfibrozilum
Gemfibrozilum [INN-Latin]
Gemhexal
Gemlipid
Gemnpid
Gen Gemfibrozil
Gen-Fibro
Gen-Gemfibrozil
GenGemfibrozil
GenRX Gemfibrozil
Genlip
Genpharm Brand of Gemfibrozil
Gevilon Uno
Gozid
HMS1568L09
HMS1920B07
HMS2090K14
HMS2091H11
HMS500G20
Healthsense Brand of Gemfibrozil
Healthsense Gemfibrozil
 
Hexal Brand of Gemfibrozil
Hidil
Hipolixan
I01-1855
IDI1_000138
Innogem
Innogen
Ipolipid
Ipsen Brand of Gemfibrozil
Jezil
KBio1_000138
KBio2_001305
KBio2_003873
KBio2_006441
KBio3_001280
KBioGR_000964
KBioSS_001305
LS-1085
Lanaterom
Lifibron
Lipazil
Lipigem
Lipira
Lipizyl
Lipox Gemfi
Lipozid
Lipur
Litarek
Lopid
Lopid (TN)
Lopid R
Low-Lip
MLS000028421
MLS001055364
Menarini Brand of Gemfibrozil
Micolip
MolPort-001-794-413
NCGC00016794-01
NCGC00016794-02
NCGC00022722-03
NCGC00022722-04
NCGC00022722-05
NCGC00022722-06
NCGC00022722-07
NINDS_000138
Normolip
Novo Gemfibrozil
Novo-Gemfibrozil
Novopharm Brand of Gemfibrozil
Nu Gemfibrozil
Nu Pharm Brand of Gemfibrozil
Nu-Gemfibrozil
Nu-Pharm Brand of Gemfibrozil
NuGemfibrozil
PEROXISOME PROJECT (GEMFIBROZIL) (SEE ALSO GEMFIBROZIL)
PMS Gemfibrozil
PMS-Gemfibrozil
Parke Davis Brand of Gemfibrozil
Pfizer Brand of Gemfibrozil
Pharmascience Brand of Gemfibrozil
Pilder
Polyxit
Prestwick0_000214
Prestwick1_000214
Prestwick2_000214
Prestwick3_000214
Prestwick_637
Progemzal
Quimifar Brand of Gemfibrozil
Reducel
Regulip
Renabrazin
S1729_Selleck
SAM002564211
SBPA Gemfibrozil
SMR000058393
SPBio_001174
SPBio_002148
SPECTRUM1500313
SR-01000000056
SR-01000000056-6
STK618740
Sigma Brand of Gemfibrozil
Sinelip
Spectrum2_001097
Spectrum3_000440
Spectrum4_000562
Spectrum5_000750
Spectrum5_001991
Spectrum_000825
Synbrozil
TAD Brand of Gemfibrozil
TEVA-A
TL8002081
Taborcil
Tentroc
Terry White Chemists Brand of Gemfibrozil
Terry White Chemists Gemfibrozil
Trialmin
UNII-Q8X02027X3
United Drug Brand of Gemfibrozil
WL-Gemfibrozil
Warner Lambert Brand of Gemfibrozil
Warner-Lambert Brand of Gemfibrozil
gemfibrozil
nchembio790-comp22
27
ProbucolPhase 42123288-49-54912
Synonyms:
2,6-ditert-butyl-4-[2-(3,5-ditert-butyl-4-hydroxyphenyl)sulfanylpropan-2-ylsulfanyl]phenol
23288-49-5
4,4'- (Isopropylidenedithio)bis(2, 6-di-tert-butylphenol)
4,4'- (Isopropylidenedithio)bis(2,6-di-tert-butylphenol)
4,4'-(Isopropylidenedithio)bis(2, 6-di-tert-butylphenol)
4,4'-(Isopropylidenedithio)bis(2,6-di-tert-butylphenol)
4,4'-(Isopropylidenedithio)bis[2, 6-di-tert-butylphenol]
4,4'-(Isopropylidenedithio)bis[2,6-di-tert-butylphenol]
4,4'-(propane-2,2-diyldisulfanediyl)bis(2,6-di-tert-butylphenol)
4,4'-[(1-Methylethylidene)bis(thio)]bis-[2,6-bis(1,1-dimethylethyl)phenol]
AB00052202
AC1L1J88
AKOS001740866
Acetone bis(3,5-di-tert-butyl-4-hydroxyphenyl) mercaptole
Acetone, bis (3,5-di-tert-butyl-4-hydroxyphenyl) mercaptole
Acetone, bis(3,5-di-tert-butyl-4-hydroxyphenyl) mercaptole
Almirall Brand of Probucol
Aventis Brand of Probucol
BPBio1_000625
BRN 2026253
BSPBio_000567
BSPBio_003176
Biphenabid
Bisbid
Bisphenabid
C07373
C31H48O2S2
CAS-23288-49-5
CCRIS 7510
CHEBI:122641
CHEMBL608
CID4912
D00476
D011341
DB01599
DE-3872
DH 581
DH-581
DH581
DivK1c_000599
EINECS 245-560-9
HMS1569M09
HMS1921D21
HMS2092D05
HMS501N21
Hoechst Brand of Probucol
IDI1_000599
KBio1_000599
KBio2_001776
KBio2_002394
KBio2_004344
KBio2_004962
KBio2_006912
KBio2_007530
 
KBio3_002396
KBio3_002873
KBioGR_000708
KBioGR_002394
KBioSS_001776
KBioSS_002399
LORELCO (TN)
LS-13188
Lesterol
Lorelco
Lursell
Lurselle
MLS000028492
MolPort-002-042-265
NCGC00016777-01
NCGC00094895-01
NCGC00094895-02
NCGC00094895-03
NCGC00094895-04
NINDS_000599
NSC 652160
NSC 86225
NSC652160
NSC86225
P9672_FLUKA
P9672_SIGMA
Panavir
Prestwick0_000384
Prestwick1_000384
Prestwick2_000384
Prestwick3_000384
Prestwick_408
Probucol (JAN/USP/INN)
Probucol [USAN:BAN:INN:JAN]
Probucolum
Probucolum [INN-Latin]
Probucolum [inn-latin]
SMR000058265
SPBio_001420
SPBio_002488
SPECTRUM1501109
ST075698
STK762566
Serterol
Sinlestal
Spectrum2_001400
Spectrum3_001438
Spectrum4_000414
Spectrum5_001343
Spectrum_001296
Superlipid
UNII-P3CTH044XJ
ZERO/001429
ZINC01530755
cMAP_000039
probucol
28
SerotoninPhase 4, Phase 1351050-67-95202
Synonyms:
3-(2-Aminoethyl)-1H-indol-5-ol
3-(2-Aminoethyl)indol-5-ol
3-(b-Aminoethyl)-5-hydroxyindole
5-HT
5-HTA
5-Hydroxy-3-(b-aminoethyl)indole
 
5-Hydroxy-tryptamine
5-Hydroxyltryptamine
5-Hydroxytriptamine
5-Hydroxytryptamine
Antemovis
DS substance
Enteramin
Enteramine
29Clofibric acidPhase 420882-09-7
30
CelecoxibPhase 4, Phase 3427169590-42-52662
Synonyms:
169590-42-5
184007-95-2
1oq5
4-(5-(4-Methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)benzenesulfonamide
4-[5-(4-METHYLPHENYL)-3-(TRIFLUOROMETHYL)-1H-PYRAZOL-1-YL]BENZENESULFONAMIDE
4-[5-(4-methylphenyl)-3-(trifluoromethyl)-1Hpyrazol-1-yl] benzenesulfonamide
4-[5-(4-methylphenyl)-3-(trifluoromethyl)pyrazol-1-yl]benzenesulfonamide
AC-4228
AC1L1E6K
AI-525
BIDD:GT0408
BRD-K02637541-001-02-4
BSPBio_003596
Benzenesulfonamide,4-(5-(4-methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)
C07589
C105934
C17H14F3N3O2S
CCRIS 8679
CEL
CEP-33222
CHEBI:41423
CHEMBL118
CID2662
CPD000550473
Celebra
Celebrex
Celebrex (TN)
Celebrex, Celebra, Celecoxib
Celecox
Celecoxi
Celecoxib
Celecoxib (JAN/USAN/INN)
Celecoxib (SC-58635)
Celecoxib [Old RN]
Celecoxib [USAN]
Celecoxibum
Celocoxib
Célécoxib
D00567
DB00482
DivK1c_000893
Eurocox
FT-0080064
HMS1922G14
HMS2089L18
HMS2093I07
HMS502M15
HSDB 7038
I01-1033
IDI1_000893
KBio1_000893
KBio2_000912
 
KBio2_002351
KBio2_003480
KBio2_004919
KBio2_006048
KBio2_007487
KBio3_002830
KBio3_003037
KBioGR_000723
KBioGR_002351
KBioSS_000912
KBioSS_002354
LS-31667
MLS001165684
MLS001195656
MLS001304708
Medicoxib
MolPort-002-885-815
NCGC00091455-01
NCGC00091455-02
NCGC00091455-03
NCGC00091455-04
NCI60_041049
NINDS_000893
NSC719627
Onsenal
P-(5-P-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
Pfizer brand of celecoxib
S1261_Selleck
SAM002589995
SC 58635
SC-58553, SC-58635
SC-58635
SC58635
SMR000550473
SPBio_001512
SPECTRUM1503678
Solexa
Spectrum2_001576
Spectrum3_001996
Spectrum4_000182
Spectrum5_001324
Spectrum_000432
TL8001323
TPI-336
UNM-0000305813
Xilebao
YM 177
YM-177
YM177
ZINC02570895
cMAP_000027
celecoxib
p-(5-p-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
31
NevirapinePhase 4, Phase 3223129618-40-24463
Synonyms:
11-CYCLOPROPYL-5,11-DIHYDRO-4-METHYL-6H-DIPYRIDO[3,2-B:2',3'-E][1,4]DIAZEPIN-6-ONE
11-Cyclopropyl-4-methyl-5,11-dihydro-6H-dipyrido[2,3-e:3',2'-b][1,4]diazepin-6-one
11-Cyclopropyl-4-methyl-5,11-dihydro-6H-dipyrido[2,3-e:3',2'-b][1,4]diazepin-6-one & PRO 140 (Anti-CCR5 monoclonal antibody)
11-Cyclopropyl-4-methyl-5,11-dihydro-6H-dipyrido[3,2-b:2',3'-e][1,4]diazepin-6-one
11-Cyclopropyl-5,11-dihydro-4-methyl-6H-dipyrido(3,2-b:2',3'-e)(1,4)diazepin-6-one
129618-40-2
1vrt
2hny
AC-643
AC1L1I81
BI RG 587
BI-RG-587
BI-RG-587 & CD4-IgG
BIDD:GT0326
BIRG 0587
BIRG 587
BIRG-0587
BIRG-587
BIRG587
Bio-0789
C07263
C15H14N4O
CHEBI:44659
CHEMBL57
CID4463
CPD000048458
Cahill May Roberts Brand of Nevirapine
D00435
D019829
DB00238
DB08311
 
HMS2051J09
HSDB 7164
I02-0310
LS-2289
MLS000084585
MLS000759409
MLS001055309
MLS001201730
MolPort-002-507-817
N11-Cyclopropyl-4-methyl-5,11-dihydro-6H-dipyrido[3,2-b:2',3'-e]-[1,4]diazepin-6-one & CD4-immunoadhesin
NCGC00065890-02
NEV
NON-NUCLEOSIDE RT INHIBITOR NEVIRAPINE
NSC 641530
NSC641530
NVP
Nevirapine
Nevirapine & CD4-IgG
Nevirapine & PRO 140
Nevirapine (JAN/USP/INN)
Nevirapine [USAN:INN]
Promeco Brand of Nevirapine
S1742_Selleck
SAM001246551
SMR000048458
STK580320
UNII-99DK7FVK1H
Viramune
Viramune (TN)
Viramune(TM)
Viramune, BI-RG 587, Nevirapine
ZINC00004778
nevirapine
32
ZidovudinePhase 4, Phase 349530516-87-135370
Synonyms:
-Azido-3&prime
-deoxythymidine
1-(3-Azido-2,3-dideoxy-beta-D-ribofuranosyl)thymine
3&prime
3' Azido 2',3' Dideoxythymidine
3' Azido 3' deoxythymidine
3'-Azido-2',3'-Dideoxythymidine
3'-Azido-3'-deoxythymidine
3'-Azido-3'-deoxythymidine & Concanavalin A
3'-Azido-3'-deoxythymidine & Erythropoietin
3'-Azido-3'-deoxythymidine & Heteropolyoxotungstate PM-19
3'-Azido-3'-deoxythymidine & Interleukin-1
3'-Azido-3'-deoxythymidine & Interleukin-2
3'-Azido-3'-deoxythymidine & Interleukin-6
3'-Azido-3'-deoxythymidine & Lithium & Erythropoietin
3'-Azido-3'-deoxythymidine & Lithium & Interleukin-1
3'-Azido-3'-deoxythymidine & Lithium & Interleukin-6
3'-Azido-3'-deoxythymidine & Lymphoblastoid Interferon
3'-Azido-3'-deoxythymidine & Sho-Saiko-To
3'-Azido-3'-deoxythymidine (AIDS)
3'-Azido-3'deoxythymidine & Interferon .alpha.
3'-Azidothymidine
3'-Deoxy-3'-azidothymidine
3'-azido-3'-deoxythymidine, AZT
3-Azido-3-deoxythymidine
30516-87-1
399024-19-2
A2169_SIGMA
AC1L1TKL
AC1Q2OEK
AZT
AZT & CD4(178)-PE 40
AZT & Colony-stimulating factor 2
AZT & Concanavalin A (ConA)
AZT & EPO
AZT & GM-CSF
AZT & HPA
AZT & IFN.alpha.
AZT & IL-1
AZT & IL-2
AZT & IL-6
AZT & Interferon-.alpha.-2
AZT & Li & EPO
AZT & Li & GM-CSF
AZT & Li & IL-1
AZT & Li & IL-6
AZT & Lymphoblastoid Interferon
AZT & NP (from PHCA or HSA)
AZT & PM-19
AZT & SST
AZT & rIFN.alpha.2
AZT & rsCD4 & rIFN.alpha.A
AZT & rsT4
AZT & sCD4
AZT & srCD4
AZT (Antiviral)
AZT Antiviral
AZT TRANSPLACENTAL CARCINOGENESIS STUDY
AZT+PRO 140
AZT, Antiviral
Antiviral AZT
Apo-Zidovudine
Azidothymidine
Aztec
BB_NC-1012
BPBio1_000403
BRD-K72903603-001-04-6
BSPBio_000365
BSPBio_003153
BW A509U
BW-A 509U
BW-A-509U
BW-A509U
BWA 509U
BWA-509U
BWA509U
C07210
CCRIS 105
CHEBI:10110
CHEBI:127307
CHEMBL129
CID35370
 
CPD000058351
Compound S
Cpd S
D00413
D015215
DB00495
DRG-0004
DS-4152 & AZT
DivK1c_000524
HMS1921J20
HMS2090G11
HMS2092D06
HMS501K06
HSDB 6515
IDI1_000524
Interferon AD + 3'-azido-3'-deoxythymidine
Intron A & AZT
K7 [P Ti2 W10 O40]
KBio1_000524
KBio2_001828
KBio2_004396
KBio2_006964
KBio3_002653
KBioGR_000703
KBioSS_001828
LS-1159
Liposomal AZT-SN-1
Liposomal AZT-SN-3
MLS000028548
MLS001055351
MLS001076358
MLS002153202
MLS002222249
Met-SDF-1.beta. & AZT
Met-SDF-1.beta. & Zidovudine
MolPort-002-507-286
NCGC00023945-03
NCGC00023945-04
NCGC00023945-05
NCGC00023945-08
NCGC00178237-01
NCGC00178237-02
NINDS_000524
NSC 602670
Novo-Azt
PC-SOD+AZT
Prestwick3_000333
Propolis+AZT
Racemic Liposomal AZT
Retrovir
Retrovir (TN)
Retrovir(TM)
SAM002548971
SMR000058351
SN-1-dipalmitoylglycerophospho-AZT (in a lipid vesicle)
SN-3-dipalmitoylglycerophospho-AZT (in a lipid vesicle)
SPBio_000834
SPECTRUM1502109
STK801891
Spectrum2_000927
Spectrum3_001507
Spectrum4_000332
Spectrum5_001101
Spectrum_001348
UNII-4B9XT59T7S
ZDV
ZIDOVUDINE [AZT]
ZINC03779042
ZVD
Zidovudin
Zidovudina
Zidovudina [Spanish]
Zidovudine (JAN/USP/INN)
Zidovudine EP III
Zidovudine [USAN:INN:BAN:JAN]
Zidovudine+PRO 140
Zidovudinum
Zidovudinum [Latin]
antiviral
azidodeoxythymidine
rIFN-beta seron & AZT
racemic-dipalmitoylglycerophospho-AZT (in a lipid vesicle)
zidovudin
zidovudine
33
protease inhibitorsPhase 4, Phase 3, Phase 2, Phase 15157
Synonyms:
 
protease inhibitors
34insulinPhase 4, Phase 3, Phase 2, Phase 1, Phase 04401
35
PitavastatinPhase 4, Phase 3, Phase 163147511-69-1, 147526-32-76366718, 5282452
Synonyms:
( )-(3R,5S,6E)-7-(2-Cyclopropyl-4-(4-fluorophenyl)-3-quinolyl)-3,5-dihydroxy-6-heptenoic acid
(3R,5S,6E)-7-(2-Cyclopropyl-4-(4-fluorophenyl)quinolin-3-yl)-3,5-dihydroxyhept-6-enoic acid
(3R,5S,6E)-7-(2-Cyclopropyl-4-(p-fluorophenyl)-3-quinolyl)-3,5-dihydroxy-6-heptenoic acid
(3R,5S,E)-7-(2-cyclopropyl-4-(4-fluorophenyl)quinolin-3-yl)-3,5-dihydroxyhept-6-enoate
(E,3R,5S)-7-[2-cyclopropyl-4-(4-fluorophenyl)quinolin-3-yl]-3,5-dihydroxyhept-6-enoic acid
111GE002
147511-69-1
147526-32-7
2C25H23FNO4.Ca
AC1NR03G
AC1NR03J
AKOS005145916
Alipza
Bis((3R,5S,6E)-7-(2-cyclopropyl-4-(4-fluorophenyl)-3-quinolyl)-3,5-dihydroxy-6-heptenoate), monocalcium salt
C13334
CCRIS 8652
CID5282451
CID5282452
D01862
Itavastatin
Itavastatin calcium
KS-1220
LS-190698
 
LS-74594
LS-74595
Livalo
Livalo (TN)
Livalo, Pitavastatin calcium
Livazo
MolPort-006-822-984
NK 104
NK-104
NKS-104
Nisvastatin
P 872441
P-872441
Pitavastatia
Pitavastatin
Pitavastatin [INN]
Pitavastatin calcium
Pitavastatin calcium (JAN)
Pitavastatin hemicalcium
Pitavastatine
Pitavastatinum
S1759_Selleck
ZINC01534965
calcium (E,3R,5S)-7-[2-cyclopropyl-4-(4-fluorophenyl)quinolin-3-yl]-3,5-dihydroxyhept-6-enoate
36
EfavirenzPhase 4, Phase 3, Phase 2404154598-52-464139
Synonyms:
(-)-6-CHLORO-4-cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-2H-3,1-benzoxazin-2-one
(-)-Efavirenz
(4S)-6-Chloro-4-(cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-benzoxazin-2-one
(4S)-6-Chloro-4-cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-benzo[d][1,3]oxazin-2-one
(4S)-6-chloro-4-(2-cyclopropylethynyl)-4-(trifluoromethyl)-1H-3,1-benzoxazin-2-one
(4S)-6-chloro-4-(cyclopropylethynyl)-4-(trifluoromethyl)-1,4-dihydro-2H-3,1-benzoxazin-2-one
(S)-6-Chloro-4-(2-cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-ben
(S)-6-Chloro-4-(cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-benzoxazin-2-one
(S)-6-Chloro-4-cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-benzo[d][1,3]oxazin-2-one
(S)-6-chloro-4-(Cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-benzoxazin-2-one
(S)-6-chloro-4-Cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-benzo[D][1,3]oxazin-2-one
154598-52-4
1ikv
1ikw
2H-3,1-Benzoxazin-2-one, 6-chloro-4-(cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-, (4S)- (9
6-chloro-4-(2-Cyclopropyl-1-ethynyl)-4-trifluoromethyl-(4S)-1,4-dihydro-2H-benzo[D][1,3]oxazin-2-one
6-chloro-4-(2-cyclopropyl-1-ethynyl)-4-trifluoromethyl-(4S)-1,4-dihydro-2H-benzo[d][1,3]oxazin-2-one
AC-19049
AC1L20IX
BIDD:GT0383
C08088
C14H9ClF3NO2
CHEBI:119486
CHEMBL223228
CID64139
CPD000466351
D00896
DB00625
DB07709
DMP 266
DMP-266
EFV
 
EFZ
Efavirenz
Efavirenz (JAN/INN)
Efavirenzum
Eravirenz
HMS2051J08
HMS2090N16
HSDB 7163
L 743726
L-741211
L-743,726
L-743725
L-743726
LS-173464
MLS000759465
MLS001424087
Met-SDF-1.beta. & Efavirenz
Met-Stromal Cell-derived Factor-1.beta. (Human) & Efavirenz
MolPort-003-983-924
NSC742403
SAM001246667
SBB066062
SMR000466351
Stocrin
Strocin (TM)
Sustiva
Sustiva (TM)
Sustiva (TN)
UNII-JE6H2O27P8
ZINC02020233
efavirenz
efavirenz, (S)-isomer
zoxazin-2-one
Éfavirenz
37
RitonavirPhase 4, Phase 3, Phase 1856155213-67-5392622
Synonyms:
1,3-thiazol-5-ylmethyl N-[(2S,3S,5S)-3-hydroxy-5-[[(2S)-3-methyl-2-[[methyl-[(2-propan-2-yl-1,3-thiazol-4-yl)methyl]carbamoyl]amino]butanoyl]amino]-1,6-diphenylhexan-2-yl]carbamate
155213-67-5
1hxw
1sh9
5-Thiazolylmethyl ((alphaS)-alpha-((1S,3S)-1-hydroxy-3-((2S)-2-(3-((2-isopropyl-4-thiazolyl)methyl)-3-methylureido)-3-methylbutyramido)-4-phenylbutyl)phenethyl)carbamate
5-Thiazolylmethyl ((alphaS)-alpha-((1S,3S-1-hydroxy-3-((2S)-2-(3-((2-isopropyl-4-thiazolyl)methyl)-3-methylureido)-3-methylbutyramido)-4-phenylbutyl)phenethyl)carbamate
538, ABT
A-84538
ABBOTT-84538
ABT 538
ABT 84538
ABT-538
ABT538
AC-733
AC1L94GB
AKOS000280930
Abbott 84538
BIDD:GT0387
BIDD:PXR0023
Bio-0093
C07240
C37H48N6O5S2
CHEBI:45409
CHEMBL163
CID392622
CPD000466395
D00427
D019438
 
DB00503
DRG-0244
FT-0082824
HMS2051B08
HSDB 7160
LS-148860
MLS000759541
MLS001424063
MolPort-000-883-877
N-[(2S,4S,5S)-4-hydroxy-1,6-diphenyl-5-{[(1,3-thiazol-5-ylmethoxy)carbonyl]amino}hexan-2-yl]-N~2~-(methyl{[2-(propan-2-yl)-1,3-thiazol-4-yl]methyl}carbamoyl)-L-valinamide
NCGC00159462-02
NSC693184
Norvir
Norvir (TM)
Norvir (TN)
Norvir Sec
RIT
RTV
Ritonavir
Ritonavir (JAN/USAN/INN)
Ritonavir [USAN]
Ritonavir is an inhibitor of HIV protease used to treat HIV infection and AIDS.
Ritonavirum
S1185_Selleck
SAM001246783
SMR000466395
STK634209
ZINC03944422
ritonavir
38Atorvastatin CalciumPhase 4, Phase 3, Phase 2, Phase 1, Phase 0727134523-03-8
39
PravastatinPhase 4, Phase 3, Phase 2, Phase 114781093-37-054687
Synonyms:
(+)-(3R,5R)-3,5-Dihydroxy-7-[(1S,2S,6S,8S,8ar)-6-hydroxy-2-methyl-8-{[(S)-2-methylbutyryl]oxy}-1,2,6,7,8,8a-hexahydro-1-naphthyl]heptanoic acid
(3R,5R)-3,5-dihydroxy-7-[(1S,2S,6S,8S,8aR)-6-hydroxy-2-methyl-8-{[(2S)-2-methylbutanoyl]oxy}-1,2,6,7,8,8a-hexahydronaphthalen-1-yl]heptanoic acid
(3R,5R)-7-[(1S,2S,6S,8S,8aR)-6-hydroxy-2-methyl-8-[(2S)-2-methylbutanoyl]oxy-1,2,6,7,8,8a-hexahydronaphthalen-1-yl]-3,5-dihydroxyheptanoic acid
1,2,6,7,8,8a-hexahydro-beta,delta,6-trihydroxy-2-methyl-8-(2-methyl-1-oxobutoxy)-, (1S-(1alpha(betaS*,deltaS*),2alpha,6alpha,8beta(R*),8aalpha))-1-Naphthaleneheptanoic acid
3beta-Hydroxycompactin
81093-37-0
81131-70-6 (hydrochloride salt)
AC1L1HJL
AC1Q5T3M
BIDD:GT0773
BRD-K60511616-236-01-4
C01844
C23H36O7
CCRIS 7557
CHEMBL1144
CID54687
Compactin
D08410
DB00175
Elisor
Eptastatin
FT-0082682
KS-5015
LS-94713
Lipostat
Mevalothin
Mevalotin
Mevastatin
Mevinolin
 
Oliprevin
Pravachol
Pravaselect
Pravastatin (INN)
Pravastatin Sodium
Pravastatin Sodium Salt
Pravastatin [INN:BAN]
Pravastatin acid
Pravastatin sodium
Pravastatin tert-Octylamine Salt
Pravastatina
Pravastatina [Spanish]
Pravastatine
Pravastatine [French]
Pravastatinum
Pravastatinum [Latin]
Pravator
Pravator (TN)
RMS-431
SQ-31,000
Selectin
Selektine
Selipran
UNII-KXO2KT9N0G
Vasten
nchembio.301-comp7
nchembio790-comp15
pravastatin
pravastatina
pravastatine
pravastatinum
40calcium channel blockersPhase 4, Phase 3, Phase 21889
41diureticsPhase 4, Phase 31338
42Rosuvastatin CalciumPhase 4, Phase 3, Phase 2, Phase 1440147098-20-2
43
EzetimibePhase 4, Phase 3, Phase 2, Phase 1268163222-33-1150311
Synonyms:
(-)-Sch 58235
(1-(4-fluorophenyl)-(3R)-(3-(4-fluorophenyl)-(3S)-hydroxypropyl)-(4S)-(4-hydroxyphenyl)-2-azetidinone)
(3R,4S)-1-(4-fluorophenyl)-3-[(3S)-3-(4-fluorophenyl)-3-hydroxypropyl]-4-(4-hydroxyphenyl)azetidin-2-one
(3R,4S)-1-(p-Fluorophenyl)-3-((3S)-3-(p-fluorophenyl)-3-hydroxypropyl)-4-(p-hydroxyphenyl)-2-azetidinone
1-(4-fluorophenyl)-3(R)-[3-(4-fluorophenyl)-3(S)-(4-hydroxyphenyl)-2-azetidione
1-(4-fluorophenyl)-3(R)-[3-(4-fluorophenyl)-3(S)-hydroxypropyl]-4(S)-(4-hydroxyphenyl)-2-azetidinone
163222-33-1
AC-1057
AC1L442L
C108606
CHEBI:49040
CHEMBL1138
CID150311
CPD000466334
D01966
DB00973
Essex brand of ezetimibe
Ezedoc
Ezetimiba
Ezetimibe
Ezetimibe (JAN/USAN/INN)
Ezetimibe [USAN:INN]
Ezetimibum
 
Ezetrol
HMS2051K16
LS-181801
MK-0653
MLS000759443
MLS001424125
MSD brand of ezetimibe
Merck brand of ezetimibe
MolPort-005-938-627
S1655_Selleck
SAM001246623
SCH-58235
SCH58235
SMR000466334
STK640490
STOCK6S-73750
Sch 58235
Schering-Plough brand of ezetimibe
UNII-EOR26LQQ24
ZINC03810860
Zetia
Zetia (TN)
Zetia , Ezetrol, Ezetimibe
Zient
ezetimib
44
LoperamidePhase 414053179-11-63955
Synonyms:
2-methoxyethyl1-methylethyl2,6-dimethyl-4-(3-nitrophenyl)-1,4-dihydropyridine-3,5-dicarboxylate
34552-83-5 (mono-hydrochloride)
4-(4-Chlorophenyl)-N,N-dimethyl-.alpha.,.alpha.-diphenyl-4-hydroxy-1-piperidinebutanamide
4-(4-Chlorophenyl)-N,N-dimethyl-alpha,alpha-diphenyl-4-hydroxy-1-piperidinebutanamide
4-[4-(4-chlorophenyl)-4-hydroxypiperidin-1-yl]-N,N-dimethyl-2,2-diphenylbutanamide
5-21-02-00379 (Beilstein Handbook Reference)
53179-11-6
AB00053697
AC1L1H38
AKOS000573892
Apo-Loperamide
BAS 01889668
BPBio1_000274
BRD-K61250553-001-02-9
BRD-K61250553-003-05-8
BRN 1558273
BSPBio_000248
BSPBio_001381
BSPBio_002769
Bio1_000082
Bio1_000571
Bio1_001060
Bio2_000101
Bio2_000581
C07080
C29H33ClN2O2
CAS-34552-83-5
CBiol_001796
CHEBI:162259
CHEBI:6532
CHEMBL841
CID3955
D08144
DB00836
Diamide (TN)
Diarr-Eze
DivK1c_000215
EINECS 258-416-5
HMS1791F03
HMS1989F03
HMS2089C13
IDI1_000215
IDI1_033851
Imodium A-D
Imodium A-D Caplets
Ioperamide
KBio1_000215
KBio2_000101
KBio2_000854
KBio2_002669
KBio2_003422
KBio2_005237
KBio2_005990
KBio3_000201
 
KBio3_000202
KBio3_001989
KBioGR_000101
KBioGR_001685
KBioSS_000101
KBioSS_000854
Kaopectate II
L000709
LS-114352
Lopac-L-4762
Lopac0_000708
Loperacap
Loperamid
Loperamida
Loperamida [INN-Spanish]
Loperamide (INN)
Loperamide Monohydrochloride
Loperamide [INN:BAN]
Loperamide hydrochloride
Loperamidum
Loperamidum [INN-Latin]
Lopéramide
Maalox Anti-Diarrheal
MolPort-001-969-016
NCGC00015608-01
NCGC00015608-08
NCGC00016828-01
NCGC00024818-01
NCGC00024818-02
NCGC00024818-03
NCGC00024818-04
NCGC00024818-05
NINDS_000215
Nu-Loperamide
Oprea1_109220
PMS-Loperamide
Pepto Diarrhea Control
Prestwick0_000144
Prestwick1_000144
Prestwick2_000144
Prestwick3_000144
R-18553
Rho-Loperamide
SPBio_001816
SPBio_002187
ST095179
Spectrum2_001738
Spectrum3_001015
Spectrum4_001143
Spectrum5_001374
Spectrum_000374
Tocris-0840
UNII-6X9OC3H4II
loperamide
nchembio.559-comp8
nchembio.79-comp7
45
AmlodipinePhase 4, Phase 346488150-42-92162
Synonyms:
()-Amlodipine
(RS)-3-ethyl 5-methyl 2-[(2-aminoethoxy)methyl]-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyridine-3,5-dicarboxylate
-3-(ethoxycarbonyl)-5-(methoxycarbonyl)-6-methyl-1,4-dihydropyridine
2-[(2-Aminoethoxy)methyl]-4-(2-chlorophenyl)
3,5-Pyridinedicarboxylic acid, 2-((2-aminoethoxy)methyl)-4-(2-chlorophenyl)-1,4-dihydro-6-methyl-, 3-ethyl 5-methyl ester
3,5-Pyridinedicarboxylic acid, 2-[(2-aminoethoxy)methyl]-4-(2-chlorophenyl)-1,4-dihydro-6-methyl-, 3-ethyl 5-methyl ester
3-Ethyl 5-methylester, (±)-2-[(2-aminoethoxy)methyl]-4-(o-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-Ethyl-5-methyl ( -)-2-((2-aminoethoxy)methyl)-4-(2-chlorphenyl)-1,4-dihydro-6-methyl-3,5-pyridindicarboxylat
3-Ethyl-5-methyl ( -)-2-((2-aminoethoxymethyl)-4-(o-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-Ethyl-5-methyl (+-)-2-(2-aminoethoxymethyl)-4-(O-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-Ethyl-5-methyl (+-)-2-(2-aminoethoxymethyl)-4-(o-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-Ethyl-5-methyl (.+/-.)-2-[(2-aminoethoxy)methyl]-4-(o-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-O-ethyl 5-O-methyl 2-(2-aminoethoxymethyl)-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyridine-3,5-dicarboxylate
3-ethyl 5-methyl 2-[(2-aminoethoxy)methyl]-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyridine-3,5-dicarboxylate
3-ethyl 5-methyl 2-{[(2-aminoethyl)oxy]methyl}-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyridine-3,5-dicarboxylate
88150-42-9
88150-47-4 (maleate (1:1))
AC-4535
AC1L1D26
AC1Q32ZS
AMLODIPINE BASE
AMVAZ
Ambap88150-42-9
Amlocard
Amlodipine
Amlodipine (INN)
Amlodipine Benzenesulfonate
Amlodipine Besilate
Amlodipine Besylate
Amlodipine Free Base
Amlodipine [INN:BAN]
Amlodipine besilate
Amlodipine besylate
Amlodipine free base
Amlodipino
Amlodipino [Spanish]
Amlodipinum
Amlodipinum [Latin]
Amlodis
Amlopres
Amlor
 
Amvaz
BIDD:GT0810
BRD-A22032524-074-02-4
BRD-A22032524-074-03-2
BSPBio_002727
C06825
CHEBI:2668
CHEMBL1491
CID2162
CPD000469198
Coroval
D07450
DB00381
HMS2052N03
HMS2089H07
I14-0798
Intervask
Istin
KBio3_001947
KBioGR_001643
LS-131183
Lipinox
Lotrel
MLS001401409
MolPort-001-792-963
NCGC00165957-01
NCGC00165957-02
NCGC00165957-03
Norvasc
Norvasc (TN)
Pelmec
R,S)-Amlodipine
Racemic Amlodipine
SAM001246705
SMR000469198
SPBio_000351
Spectrum2_000486
Spectrum3_001004
Spectrum4_001132
Spectrum5_001550
UK-4834011
UNII-1J444QC288
amlodipine
46
SimvastatinPhase 4, Phase 3, Phase 2, Phase 150379902-63-954454
Synonyms:
(+)-Simvastatin
(1S,3R,7S,8S,8aR)-8-{2-[(2R,4R)-4-hydroxy-6-oxotetrahydro-2H-pyran-2-yl]ethyl}-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl 2,2-dimethylbutanoate
2,2-Dimethylbutanoic acid (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8aR)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8ar)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
79902-63-9
AC-1530
AC1L1H1F
AKOS005111006
ARONIS24119
BCBcMAP01_000007
BIDD:GT0769
BPBio1_001001
BRD-K22134346-001-05-8
BRN 4768037
BSPBio_000909
BSPBio_002337
Bio-0672
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,*aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
C25H38O5
CCRIS 7558
CHEBI:9150
CHEMBL1064
CID54454
CPD000718785
Cholestat
Coledis
Colemin
Corolin
D00434
D019821
DRG-0320
Denan
DivK1c_006991
Eucor
HMS1570N11
HMS1922H13
HMS2089D12
HMS2093E06
HSDB 7208
InChI=1/C25H38O5/c1-6-25(4,5)24(28)30-21-12-15(2)11-17-8-7-16(3)20(23(17)21)10-9-19-13-18(26)14-22(27)29-19/h7-8,11,15-16,18-21,23,26H,6,9-10,12-14H2,1-5H3/t15-,16-,18+,19+,20-,21-,23-/m0/s1
KBio1_001935
KBio2_002197
KBio2_004765
KBio2_007333
KBio3_001557
KBioGR_001244
KBioSS_002197
KS-1113
Kolestevan
L 644128-000U
LS-46264
Labistatin
Lipex
Lipinorm
Liponorm
Lipovas
Lodales
MK 0733
MK 733
MK-0733
MK-733
MK733
MLS001304029
MLS001333077
MLS001333078
 
MLS002154038
Medipo
Modutrol
MolPort-002-507-345
MolPort-002-885-862
NCGC00017324-01
NCGC00017324-02
NCGC00017324-03
Nivelipol
Nor-Vastina
Pantok
Pepstatin
Prestwick0_000865
Prestwick1_000865
Prestwick2_000865
Prestwick3_000865
Prestwick_171
Rechol
Rendapid
S1792_Selleck
S6196_SIGMA
SAM002589969
SMR000718785
SPBio_001881
SPBio_002830
SPECTRUM1504236
STK801938
Simcor
Simovil
Simvast CR
Simvastatin
Simvastatin & Primycin
Simvastatin (JAN/USP/INN)
Simvastatin [USAN:INN:BAN]
Simvastatin [Usan:Ban:Inn]
Simvastatin lactone
Simvastatin, Compactin
Simvastatina
Simvastatina [Spanish]
Simvastatine
Simvastatine [French]
Simvastatinum
Simvastatinum [Latin]
Simvotin
Sinvacor
Sinvascor
Sivastin
SpecPlus_000895
Spectrum2_001671
Spectrum3_000669
Spectrum4_000632
Spectrum5_001428
Spectrum_001717
Statin
Synvinolin
TNP00259
UNII-AGG2FN16EV
Valemia
Vasotenal
Velostatin
Vytorin
ZINC03780893
Zocor
Zocor (TN)
Zocor, Simlup, Simcard, Simvacor, Simvoget, Zorced, Simvastatin
Zocord
[(1S,3R,7S,8S,8aR)-8-[2-[(2R,4R)-4-hydroxy-6-oxooxan-2-yl]ethyl]-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl] 2,2-dimethylbutanoate
butanoic acid, 2,2-dimethyl-,1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)-ethyl]-1-naphthalenyl ester, [1S-[1 alpha,3 alpha,7 beta,8 beta(2S*,4S*),-8a beta
nchembio790-comp16
simvastatin
47
SpironolactonePhase 42171952-01-7, 52-01-75833
Synonyms:
4-18-00-01601 (Beilstein Handbook Reference)
4-Pregnen-21-oic acid-17alpha-ol-3-one-7alpha-thiol gamma-lactone 7-acetate
496916-40-6
52-01-7
7-alpha-Acetylthio-3-oxo-17-alpha-pregn-4-ene-21,17-beta-carbolactone
7alpha-(acetylsulfanyl)-3-oxo-17alpha-pregn-4-ene-21,17-carbolactone
AB00513806
AC-4214
AC1L1L8Q
Abbolactone
Acelat
Aldace
Aldactazide
Aldactide
Aldactone
Aldactone (TN)
Aldactone A
Alderon
Aldopur
Almatol
Alphapharm Brand of Spironolactone
Alpharma Brand of Spironolactone
Alter Brand of Spironolactone
Altex
Aquareduct
Ashbourne Brand of Spironolactone
Azupharma Brand of Spironolactone
BIDD:PXR0071
BPBio1_000194
BRD-K90027355-001-03-4
BRN 0057767
BSPBio_000176
C07310
C24H32O4S
CHEBI:428201
CHEBI:45692
CHEBI:9241
CHEMBL1393
CID5833
CPD000471892
Cardel Brand of Spironolactone
D00443
D013148
DB00421
Deverol
Dexo Brand of Spironolactone
Diatensec
Dira
Duraspiron
EINECS 200-133-6
Espironolactona
Espironolactona Alter
Espironolactona Mundogen
Espironolactona [INN-Spanish]
Euteberol
Flumach
Frumikal
Generosan Brand of Spironolactone
HMS1568I18
HMS2090N21
HSDB 3184
Hormosan Brand of Spironolactone
I06-1970
Jenapharm Brand of Spironolactone
Jenaspiron
LS-118614
LT00772287
Lacalmin
Lacdene
Laractone
MLS001074672
MLS001333253
MLS001333254
MLS002153245
MLS002207058
Mayoly-Spindler Brand of Spironolactone
Melarcon
Merck dura Brand of Spironolactone
Mundogen Brand of Spironolactone
NCGC00164397-01
 
NCGC00164397-02
NSC 150399
NSC150399
Nefurofan
Novo Spiroton
Novo-Spiroton
NovoSpiroton
Novopharm Brand of Spironolactone
Osyrol
Pfizer Brand of Spironolactone
Pharmafrid Brand of Spironolactone
Practon
Prestwick0_000128
Prestwick1_000128
Prestwick2_000128
Prestwick3_000128
Roche Brand of Spironolactone
S0260
S3378_SIGMA
SAM002264648
SC 9420
SC-9420
SC9420
SMR000471892
SNL
SPBio_002115
Sagisal
Searle Brand of Spironolactone
Sincomen
Spiractin
Spiresis
Spiretic
Spiridon
Spiro L.U.T.
Spiro(17H-cyclopenta(a)phenauthrene-17,2'-(3'H)-furan)
Spiro-Tablinen
Spiro[17H-cyclopenta[a]phenauthrene-17,2'-(3'H)-furan]
Spirobeta
Spiroctan
Spiroctanie
Spiroderm
Spirogamma
Spirolactone
Spirolakton
Spirolang
Spirolone
Spirone
Spirono Isis
Spirono-Isis
Spironocompren
Spironolactone
Spironolactone (JP15/USP/INN)
Spironolactone A
Spironolactone [BAN:INN:JAN]
Spironolactone [INN:BAN:JAN]
Spironolactonum
Spironolactonum [INN-Latin]
Spironolattone
Spironolattone [DCIT]
Spironone
Spirospare
Sprioderm
Supra-puren
Suracton
UNII-27O7W4T232
Uractone
Urusonin
Veroshpiron
Verospiron
Verospirone
Verospirone Opianin
WLN: L E5 B666 FX OV MUTJ A1 E1 KSV1 F-& CT5VOXTJ
Worwag Brand of Spironolactone
Xenalon
ZINC03861599
betapharm Brand of Spironolactone
ct Arzneimittel Brand of Spironolactone
ct-Arzneimittel Brand of Spironolactone
spiro von ct
spironolactone
spironolattone
von ct, spiro
48
FenofibratePhase 4, Phase 3, Phase 2, Phase 116449562-28-93339
Synonyms:
2-(4-(4-Chlorobenzoyl)phenoxy)-2-methylpropanoic acid 1-methylethyl ester
49562-28-9
AB00052196
AC-4227
AC1L1FPK
AKOS005107777
AZU, Fenofibrat
AbZ Brand of Procetofen
Abbott Brand of Procetofen
Aliud Brand of Procetofen
Ankebin
Antara
Antara (TN)
Antara (micronized)
Antara Micronized Procetofen
Anto Brand of Procetofen
Apo Feno Micro
Apo Fenofibrate
Apo-Feno-Micro
Apo-Fenofibrate
Apotex Brand of Procetofen
Azupharma Brand of Procetofen
BIDD:GT0574
BPBio1_000166
BRD-K50388907-001-05-6
BRN 2062462
BSPBio_000150
BSPBio_003162
Bouchara Brand of Procetofen
C07586
C20H21ClO4
CAS-49562-28-9
CCRIS 7282
CHEBI:5001
CHEMBL672
CID3339
CIP-Fenofibrate
CPD000058299
Controlip
D00565
D011345
DB01039
Debat, Fenofibrate
DivK1c_000557
EINECS 256-376-3
EU-0100486
Elasterate
Elasterin
F 6020
F6020_SIGMA
FENOFIBRATE (MICRONIZED)
FNF
Fenobeta
Fenobrate
Fenofanton
Fenofibrat AL
Fenofibrat AZU
Fenofibrat AbZ
Fenofibrat FPh
Fenofibrat Heumann
Fenofibrat Hexal
Fenofibrat Stada
Fenofibrat ratiopharm
Fenofibrat-ratiopharm
Fenofibrate
Fenofibrate (JAN/INN)
Fenofibrate Debat
Fenofibrate IDD-P
Fenofibrate MSD
Fenofibrate [INN:BAN]
Fenofibrato
Fenofibrato [INN-Spanish]
Fenofibratum
Fenofibratum [INN-Latin]
Fenofibric acid
Fenogal
Fenoglide
Fenomax
Fenotard
Finofibrate
Fournier Brand of Procetofen
Fulcro
GNR Pharma Brand of Procetofen
GNR-Pharma Brand of Procetofen
GRS-027
Gate Brand of Procetofen
Gen Fenofibrate
Gen-Fenofibrate
Genpharm Brand of Procetofen
HMS1568H12
HMS1921B17
HMS2090G20
HMS2092B05
HMS501L19
Heumann Brand of Procetofen
Heumann, Fenofibrat
Hexal Brand of Procetofen
Hexal, Fenofibrat
I06-0048
IDI1_000557
Isopropyl (4'-(P-chlorobenzoyl)-2-phenoxy-2-methyl)propionate
Isopropyl 2-(4-(4-chlorobenzoyl)phenoxy)-2-methylpropionate
Isopropyl 2-(p-(p-chlorobenzoyl)phenoxy)-2-methylpropionate
KBio1_000557
KBio2_001730
KBio2_004298
KBio2_006866
KBio3_002382
KBioGR_000706
KBioSS_001730
Knoll Brand of Procetofen
LCP-Feno
LCP-FenoChol
LF 178
 
LF-178
LF178
LS-121256
Lichtenstein Brand of Procetofen
Lipanthyl
Lipantil
Lipantil (TN)
Liparison
Lipidex
Lipidil
Lipidil Micro
Lipidil Supra
Lipidil Ter
Lipidil-Ter
Lipifen
Lipirex
Lipoclar
Lipofen
Lipofen (TN)
Lipofene
Liposit
Lipsin
Lofibra
Lopac-F-6020
Lopac0_000486
Luxacor
MLS000028515
MLS001148191
MTW Brand of Procetofen
MTW Fenofibrat
MTW-Fenofibrat
Merck dura Brand of Procetofen
Micronized Procetofen, Antara
MolPort-002-887-051
NCGC00015437-01
NCGC00015437-02
NCGC00015437-03
NCGC00015437-06
NCGC00015437-12
NCGC00021475-03
NCGC00021475-04
NCGC00021475-05
NCGC00021475-06
NCGC00021475-07
NCGC00021475-08
NINDS_000557
NSC 281319
NSC281319
Nolipax
Novartis Brand of Procetofen
Novo Fenofibrate
Novo-Fenofibrate
Novopharm Brand of Procetofen
Nu Fenofibrate
Nu Pharm Brand of Procetofen
Nu-Fenofibrate
Nu-Pharm Brand of Procetofen
PMS Fenofibrate Micro
PMS-Fenofibrate Micro
Pharmascience Brand of Procetofen
Pharmavit
Phenofibrate
Prestwick0_000275
Prestwick1_000275
Prestwick2_000275
Prestwick3_000275
Prestwick_217
Procetofen
Procetofen Reliant Brand
Procetofen, Antara Micronized
Procetofene
Proctofene
Protolipan
Q Pharm Brand of Procetofen
Q-Pharm Brand of Procetofen
Reliant Brand of Procetofen
S1794_Selleck
SAM002264613
SMR000058299
SPBio_001380
SPBio_002369
SPECTRUM1501010
ST085313
Schering Plough Brand of Procetofen
Schering-Plough Brand of Procetofen
Secalip
Sedufen
Spectrum2_001390
Spectrum3_001431
Spectrum4_000413
Spectrum5_001479
Spectrum_001250
Stada, Fenofibrat
Stadapharm Brand of Procetofen
Supralip
TL8003296
TRICOR (MICRONIZED)
Tricor
Tricor (TN)
Triglide
Triglide (TN)
Trilipix
UNII-U202363UOS
United Drug Brand of Procetofen
ZINC00584092
betapharm Brand of Procetofen
ct Arzneimittel Brand of Procetofen
ct-Arzneimittel Brand of Procetofen
durafenat
fenofibrat von ct
fenofibrate
fenofibric acid
isopropyl 2-[4-(4-chlorobenzoyl)phenoxy]-2-methylpropanoate
nchembio790-comp24
ratiopharm Brand of Procetofen
49
FluvastatinPhase 4, Phase 35893957-54-11548972
Synonyms:
(+)-(3R,5S)-fluvastatin
(-)-(3S,5R)-fluvastatin
(3R,5R,6E)-7-[3-(4-fluorophenyl)-1-(propan-2-yl)-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3R,5R,6E)-7-[3-(4-fluorophenyl)-1-isopropyl-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3R,5S)-7-[3-(4-fluorophenyl)-1-propan-2-ylindol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3R,5S,6E)-7-[3-(4-fluorophenyl)-1-(1-methylethyl)-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3R,5S,6E)-7-[3-(4-fluorophenyl)-1-(propan-2-yl)-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3R,5S,6E)-7-[3-(4-fluorophenyl)-1-isopropyl-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3R,5S,6E)-rel-7-[3-(4-Fluorophenyl)-1-(1-methylethyl)-1H-indol-2-yl]-3,5-dihydroxy-6-heptenoic acid
(3S,5R,6E)-7-[3-(4-fluorophenyl)-1-(propan-2-yl)-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3S,5R,6E)-7-[3-(4-fluorophenyl)-1-isopropyl-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(6E)-7-[3-(4-fluorophenyl)-1-(propan-2-yl)-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(6E)-7-[3-(4-fluorophenyl)-1-isopropyl-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(E)-7-[3-(4-fluorophenyl)-1-propan-2-ylindol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(E,3R,5S)-7-[3-(4-fluorophenyl)-1-propan-2-ylindol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(E,3S,5R)-7-[3-(4-fluorophenyl)-1-propan-2-ylindol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(Z,3R,5S)-7-[3-(4-fluorophenyl)-1-propan-2-ylindol-2-yl]-3,5-dihydroxyhept-6-enoic acid
7-(3-(4-fluorophenyl)-1-(1-methylethyl)-1H-indol-2-yl)-3,5-dihydroxy-6-heptenoate
7-[3-(4-fluorophenyl)-1-propan-2-ylindol-2-yl]-3,5-dihydroxyhept-6-enoic acid
93957-54-1
AC1L1FUW
AC1L3TXK
AC1L9J7I
AC1LU7LJ
AC1NS4EB
AC1OC9O5
AC1Q1PZO
BIDD:GT0839
BPBio1_000965
BRD-K03602135-236-02-1
BSPBio_000877
C07014
C24H26FNO4
CHEBI:38562
CHEBI:38565
CHEBI:38567
CHEBI:5136
CHEMBL1078
CHEMBL170417
CID10501876
CID146801
CID1548972
 
CID3403
CID446155
CID5353627
CID6914285
CID9887837
CPD001453708
Canef
Cranoc
D07983
DB01095
Fluindostatin
Fluvas
Fluvas (TN)
Fluvastatin & Primycin
Fluvastatin (INN)
Fluvastatin [INN:BAN]
Fluvastatina
Fluvastatina [INN-Spanish]
Fluvastatine
Fluvastatine [INN-French]
Fluvastatinum
Fluvastatinum [INN-Latin]
HMS2089P06
I06-2297
LS-7404
Lescol
Lescol XL
MolPort-003-847-470
Prestwick0_000859
Prestwick1_000859
Prestwick2_000859
Prestwick3_000859
SAM002548940
SPBio_002798
T6624179
TL8005940
UNII-4L066368AS
XU 62320
XU-62320
fluvastatin
fluvastatin sodium
nchembio.301-comp9
nchembio790-comp18
50
sirolimusPhase 4, Phase 3, Phase 1186353123-88-95284616, 6436030, 46835353
Synonyms:
(-)-Rapamycin
(-)-rapamycin
1fkb
1pbk
23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine
23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine
23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29
3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
53123-88-9
A422989, NSC226080
AC-722
AC1L1JH9
AC1L7MJ9
AC1L9ZMV
AY 22989
AY-22989
AY22989
Ambotz53123-88-9
Antibiotic AY 22989
BIDD:PXR0165
Bio1_000293
Bio1_000782
Bio1_001271
Bio2_000375
Bio2_000855
BiomolKI2_000084
C07909
C51H79NO13
CBiol_002007
CCRIS 9024
CHEBI:100923
CHEBI:9168
CHEMBL413
CID10213190
CID10795871
CID11949238
CID11959112
CID313006
CID478951
CID5040
CID5284616
CID5358081
CID5374464
CID5460439
CID5497196
CID5924240
CID6436030
CID6610270
CID6610346
CID6711160
CID6713081
CID9833581
CID9854379
CID9854380
CID9962926
CID9962928
D00753
DB00877
DE-109
DivK1c_006936
 
FT-0082351
HMS2089A21
HSDB 7284
KBio1_001880
KBio2_000410
KBio2_002978
KBio2_005546
KBio3_000779
KBio3_000780
KBioGR_000410
KBioSS_000410
LCP-Siro
LMPK06000003
LS-143290
MLS000028373
MS-R001
MolMap_000043
MolPort-003-959-433
NCGC00021305-05
NCI60_001851
NCIMech_000355
NSC 226080
NSC226080
Perceiva
QTL1_000069
R0395_SIAL
R0395_SIGMA
RAP
RAPA
RPM
Rapammune
Rapamune
Rapamune (TN)
Rapamycin
Rapamycin (TN)
Rapamycin C-7, analog 4
Rapamycin Immunosuppressant Drug
Rapamycin from Streptomyces hygroscopicus
S1039_Selleck
SIIA 9268A
SILA 9268A
SILA9268A
SMP1_000255
SMR000058564
Sirolimus
Sirolimus (RAPAMUNE)
Sirolimus (USAN/INN)
Sirolimus [USAN:BAN:INN]
Sirolimus, Rapamune,Rapamycin
SpecPlus_000840
UNII-W36ZG6FT64
UNM-0000358684
WY-090217
Wy 090217
heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy
nchembio.100-comp4
nchembio.2007.42-comp2
nchembio.79-comp1
nchembio762-comp1
nchembio883-comp3
rapamycin
sirolimus

Interventional clinical trials:

(show top 50)    (show all 1138)
idNameStatusNCT IDPhase
1STITCH2 (Simplified Therapeutic Intervention to Control Hypertension and Hypercholesterolemia)CompletedNCT00637078Phase 4
2The Efficacy and Tolerability of Two Formulations of Atorvastatin In Korean Adult With HypercholesterolemiaCompletedNCT01285544Phase 4
3Evaluation of Ezetimibe and Atorvastatin Coadministration Versus Atorvastatin or Rosuvastatin Monotherapy in Japanese Patients With Hypercholesterolemia (Study P06027)(COMPLETED)CompletedNCT00871351Phase 4
4Effectiveness and Safety of Ezetimibe Added to Atorvastatin in Patients With High Cholesterol and Coronary Heart Disease (Study P03740)CompletedNCT00202904Phase 4
5Cholesterol Lowering Treatment With Psyllium Husks and Isolated Soy Protein in HypercholesterolemiaCompletedNCT01251991Phase 4
6To Evaluate the Lipid-Lowering Efficacy and Safety of Simvastatin 40 Mg Tablet In Patients With Hypercholesterolemia (0733-264)CompletedNCT00398294Phase 4
7Efficacy and Safety Study of Pitavastatin Versus Atorvastatin to Treat HypercholesterolemiaCompletedNCT01166633Phase 4
8Efficacy And Safety Study Of Atorvastatin Versus Simvastatin In Type 2 Diabetic Subjects With HypercholesterolemiaCompletedNCT00141141Phase 4
9Efficacy and Safety Study of Pitavastatin Compared to atoRvastatin in Type 2 dIabeTes Mellitus With HypercholesterolemiaCompletedNCT00889226Phase 4
10A Study of the Effect of Ezetimibe on Glucose Metabolism in Type 2 Diabetics With Hypercholesterolemia (P06541)CompletedNCT01611883Phase 4
11Ezetimibe Plus Simvastatin Versus Simvastatin Alone in African-American Subjects With Primary Hypercholesterolemia (P03377)CompletedNCT00650663Phase 4
12A Study of the Safety and Efficacy of Patients With Familial Hypercholesterolaemia Taking Colesevelam as add-on Therapy to Their Existing MedicationCompletedNCT00655265Phase 4
13Open Label Study To Evaluate The Long-Term Safety Profiles Of Caduet In Japanese PatientsCompletedNCT01190007Phase 4
14Treatment With Rosuvastatin Versus Switching PI (Protease Inhibitor) in Patients HIV With High Cholesterol LevelsCompletedNCT01935674Phase 4
15Efficacy and Safety of Colesevelam in Pediatric Patients With Genetic High CholesterolCompletedNCT00145574Phase 4
16The Effects of Ezetimibe/Simvastatin 10/20 mg Versus Simvastatin 40 mg in High Cholesterol and Coronary Heart Disease Study (P04039AM2)(COMPLETED)CompletedNCT00423579Phase 4
17Adding Ezetimibe Tablet to Ongoing Treatment With Atorvastatin in Subjects With High Cholesterol and Multiple Coronary Heart Disease Risk Factors (Study P04060)(COMPLETED)CompletedNCT00319449Phase 4
18Effect of Combination Therapy With Two Drugs (Colesevelam and Ezetimibe) in Patients With High CholesterolCompletedNCT00185107Phase 4
19Evaluation of the Effects of Simvastatin 40mgCompletedNCT00397826Phase 4
20A Clinical Trial Study to Evaluate Efficacy and Safety of Atorvastatin in Korean Patients With HypercholesterolemiaCompletedNCT01081548Phase 4
21Randomized Parallel Group Trial Of The Efficacy And Safety Of Ezetimibe With A Statin Versus Statin Dose Doubling In Patients With Persistent Primary Hypercholesterolemia (0653-152)(COMPLETED)CompletedNCT00652847Phase 4
22Comparison of Ezetimibe Added to Ongoing Statin Therapy Versus Doubling the Dose of Statin in the Treatment of Hypercholesterolemia (P04355)CompletedNCT00652327Phase 4
23Comparison of Co-administration of Ezetimibe Plus Simvastatin Versus Simvastatin Alone in Primary Hypercholesterolemia (P03476)CompletedNCT00651274Phase 4
24Effect On Serum Cholesterol Of Dairy Products With Addition Of Esterified PhytosterolsCompletedNCT02644109Phase 4
25The Efficacy and Safety of Atorva® 20mg Versus Lipitor® 20mgCompletedNCT01624207Phase 4
26Comparison of Simvastatin Versus Simvastatin/Ezetimibe on Small Dense Low -Density Lipoprotein (LDL)CompletedNCT00932620Phase 4
27Effects of Ezetimibe on the Absorption of Oxidized CholesterolCompletedNCT00794677Phase 4
28Ezetimibe Plus Atorvastatin Versus Atorvastatin in Untreated Subjects With High Cholesterol (P03434)CompletedNCT00653796Phase 4
29Ezetimibe Plus Simvastatin Versus Simvastatin in Untreated Subjects With High Cholesterol (P03435)CompletedNCT00653835Phase 4
30Ezetimibe Plus (+) Simvastatin Versus Atorvastatin Comparative Study (0653A-092)(COMPLETED)CompletedNCT00166504Phase 4
31Efficacy and Safety of Fluvastatin Sodium Extended Release Tablets 80 mg Once Daily in Chinese Patients With Primary Hypercholesterolemia or Mixed DyslipidemiaCompletedNCT01551173Phase 4
32Evaluation of the Efficacy and Safety of Rosuvastatin 5 mg Versus Pravastatin 40 mg and Atorvastatin 10 mg in Type IIa and IIb Hypercholesterolaemic PatientsCompletedNCT00631189Phase 4
33Lipitor Phase 4 Clinical Trial in Hypercholesteremia Patients With Yellow Coronary PlaqueCompletedNCT00408382Phase 4
34Study to Compare Welchol and TriCor to TriCor Alone in Patients With High CholesterolCompletedNCT00754039Phase 4
35Crocus Sativus (Saffron) and Berberis Vulgaris (Barberry Fruit) in Metabolic SyndromeCompletedNCT01625442Phase 4
36Plaque REgression With Cholesterol Absorption Inhibitor or Synthesis Inhibitor Evaluated by IntraVascular UltraSoundCompletedNCT01043380Phase 4
37Comparison of the Effect of Vytorin 10/80 Tablet Split Into 4 and Simvastatin 20 Milligrams on Low-density Lipoprotein (LDL) CholesterolCompletedNCT00762164Phase 4
38Safety and Efficacy Study of Pitavastatin in Patient With a Metabolic SyndromeCompletedNCT00640276Phase 4
39Evaluation of the Efficacy of Rosuvastatin in Daily Practice (TARGET)CompletedNCT00396110Phase 4
40Japan Assessment of Pitavastatin and Atorvastatin in Acute Coronary Syndrome (JAPAN-ACS)CompletedNCT00242944Phase 4
41Effect of Crestor on Lipoprotein Metabolism in HumansCompletedNCT00214617Phase 4
42Rosuvastatin Affecting Aortic Valve EndotheliumCompletedNCT00114491Phase 4
43Vytorin (10/20 Or 10/40) Compared to Atorvastatin (10 mg or 20 mg) in Patients With Coronary Artery Disease (0653A-126)(COMPLETED)CompletedNCT00442897Phase 4
44Fluvastatin 80 mg Ret. vs Combination With Ezetimibe 10 mg in Patients With High Cardiovascular RiskCompletedNCT00814723Phase 4
45Korean Rosuvastatin Effectiveness Study in Nondiabetic Metabolic SyndromeCompletedNCT00335699Phase 4
46Low-Density Lipoprotein (LDL) Apheresis Using H.E.L.P. TherapyCompletedNCT00916643Phase 4
47Long Term Efficacy and Tolerability of a Nutraceutical Combination (Red Yeast Rice, Policosanols and Berberine) in Low-moderate Risk Hypercholesterolemic Patients: a Double-blind, Placebo Controlled StudyCompletedNCT02078167Phase 4
48Effect of Plant Stanol Ester-Containing Spread on Estimated Cardiovascular Risk in Comparison to Mediterranean DietCompletedNCT00793364Phase 4
49Ezetimibe Reverse Cholesterol Transport (RCT) Pilot StudyCompletedNCT00701727Phase 4
50Management of Elevated Cholesterol in the Primary Prevention Group of Adult Japanese(MEGA Study)CompletedNCT00211705Phase 4

Search NIH Clinical Center for Hypercholesterolemia, Familial

Inferred drug relations via UMLS66/NDF-RT44:

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Hypercholesterolemia, Familial cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Hypercholesterolemia, Familial:
Hepatocyte transplantation for treatment of liver disorders
Hepatocyte transplantation for treatment of liver failure and inherited metabolic diseases
Embryonic/Adult Cultured Cells Related to Hypercholesterolemia, Familial:
Hepatocytes, PMIDs: 15239608, 12777539, 9580649, 22789058, 22167636
Hepatocytes


Cochrane evidence based reviews: hyperlipoproteinemia type ii

Genetic Tests for Hypercholesterolemia, Familial

About this section

Genetic tests related to Hypercholesterolemia, Familial:

id Genetic test Affiliating Genes
1 Familial Hypercholesterolemia25 23
2 Familial Hypercholesterolemias25
3 Hyperbetalipoproteinemia25

Anatomical Context for Hypercholesterolemia, Familial

About this section

MalaCards organs/tissues related to Hypercholesterolemia, Familial:

34
Heart, Endothelial, Liver, Skin, Kidney, Bone, Breast

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Hypercholesterolemia, Familial:
id TissueAnatomical CompartmentCell Relevance
1 LiverLiver LobuleHepatocytes Potential therapeutic candidate, affected by disease

Animal Models for Hypercholesterolemia, Familial or affiliated genes

About this section

MGI Mouse Phenotypes related to Hypercholesterolemia, Familial:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.6ABCA1, APOB, APOE, GHR, LDLR, LPL
2MP:00053709.3ABCA1, APOA1, APOB, APOE, GHR, HMGCR
3MP:00053858.9ABCA1, APOA1, APOB, APOE, EPHX2, GHR
4MP:00053768.1ABCA1, APOA1, APOA2, APOA4, APOB, APOE

Publications for Hypercholesterolemia, Familial

About this section

Articles related to Hypercholesterolemia, Familial:

idTitleAuthorsYear
1
Changes in ultracentrifugally separated plasma lipoprotein subfractions in patients with polygenic hypercholesterolemia, familial combined hyperlipoproteinemia, and familial hypercholesterolemia after treatment with atorvastatin. (25911077)
2015
2
Mutation screening and functional analysis of low density lipoprotein receptor in a familial hypercholesterolemia family]. (18247305)
2008
3
Characterization of a new form of inherited hypercholesterolemia: familial recessive hypercholesterolemia. (10073989)
1999
4
Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method. (1301940)
1992

Variations for Hypercholesterolemia, Familial

About this section

UniProtKB/Swiss-Prot genetic disease variations for Hypercholesterolemia, Familial:

68 (show all 103)
id Symbol AA change Variation ID SNP ID
1LDLRp.Cys27TrpVAR_005304
2LDLRp.Arg78CysVAR_005307
3LDLRp.Trp87GlyVAR_005308
4LDLRp.Cys89TyrVAR_005309
5LDLRp.Asp90GlyVAR_005310
6LDLRp.Asp90AsnVAR_005311
7LDLRp.Asp90TyrVAR_005312
8LDLRp.Gln92GluVAR_005313
9LDLRp.Cys95GlyVAR_005314
10LDLRp.Glu101LysVAR_005315
11LDLRp.Cys116ArgVAR_005317
12LDLRp.Glu140LysVAR_005318
13LDLRp.Asp168HisVAR_005321
14LDLRp.Asp168AsnVAR_005322
15LDLRp.Asp168TyrVAR_005323
16LDLRp.Cys173TrpVAR_005325
17LDLRp.Asp175AsnVAR_005326
18LDLRp.Ser177LeuVAR_005327
19LDLRp.Cys197ArgVAR_005330
20LDLRp.Asp221GlyVAR_005332
21LDLRp.Asp221TyrVAR_005333
22LDLRp.Asp224ValVAR_005336
23LDLRp.Asp227GluVAR_005338
24LDLRp.Glu228LysVAR_005341
25LDLRp.Cys231GlyVAR_005342
26LDLRp.Cys248TyrVAR_005345
27LDLRp.Cys276TyrVAR_005349
28LDLRp.Asp301AlaVAR_005352
29LDLRp.Cys302TyrVAR_005353
30LDLRp.Cys302TrpVAR_005354
31LDLRp.Cys313TyrVAR_005358
32LDLRp.Cys318PheVAR_005360
33LDLRp.His327TyrVAR_005361
34LDLRp.Cys329TyrVAR_005362
35LDLRp.Cys338SerVAR_005364
36LDLRp.Arg350ProVAR_005368
37LDLRp.Cys368ArgVAR_005374
38LDLRp.Ala399AspVAR_005376
39LDLRp.Leu414ArgVAR_005379
40LDLRp.Arg416GlnVAR_005380
41LDLRp.Arg416TrpVAR_005381
42LDLRp.Ile423ThrVAR_005382
43LDLRp.Val429MetVAR_005383rs28942078
44LDLRp.Asp433HisVAR_005385
45LDLRp.Asp482HisVAR_005391
46LDLRp.Trp483ArgVAR_005392
47LDLRp.Val523MetVAR_005395rs28942080
48LDLRp.Gly549AspVAR_005398rs28941776
49LDLRp.Asn564HisVAR_005399rs28942086
50LDLRp.Asn564SerVAR_005400
51LDLRp.Asp579AsnVAR_005402
52LDLRp.Gly592GluVAR_005403
53LDLRp.Arg633CysVAR_005405
54LDLRp.Pro649LeuVAR_005406
55LDLRp.Cys667TyrVAR_005407rs28942083
56LDLRp.Cys677ArgVAR_005408
57LDLRp.Pro685LeuVAR_005410rs28942084
58LDLRp.Asp700GluVAR_005412
59LDLRp.Val797MetVAR_005415
60LDLRp.Tyr828CysVAR_005419rs28942085
61LDLRp.Ala50SerVAR_007979rs137853960
62LDLRp.Ser56ProVAR_007980
63LDLRp.Asp175TyrVAR_007981
64LDLRp.Asp221AsnVAR_007982
65LDLRp.Glu288LysVAR_007983
66LDLRp.Asp356TyrVAR_007984
67LDLRp.Gln366ArgVAR_007985
68LDLRp.Cys379TyrVAR_007986
69LDLRp.Leu401ValVAR_007987
70LDLRp.Leu432ValVAR_007988
71LDLRp.Pro608SerVAR_007989
72LDLRp.Phe403LeuVAR_008995
73LDLRp.Leu568ValVAR_008996
74LDLRp.Glu714LysVAR_008997
75LDLRp.Cys46SerVAR_013949
76LDLRp.Cys184TyrVAR_013951
77LDLRp.Cys261PheVAR_013953
78LDLRp.Cys134PheVAR_062371
79LDLRp.Cys134TrpVAR_062372
80LDLRp.Cys222TyrVAR_062373
81LDLRp.Gln254ProVAR_062374
82LDLRp.Cys276ArgVAR_062375
83LDLRp.Cys318ArgVAR_062376
84LDLRp.Cys358TyrVAR_062377
85LDLRp.Asn370ThrVAR_062378
86LDLRp.Asp415GlyVAR_062379
87LDLRp.Ile451ThrVAR_062380
88LDLRp.Leu479ProVAR_062381
89LDLRp.Asp579TyrVAR_062382
90LDLRp.Pro826SerVAR_062383
91LDLRp.Cys329PheVAR_067196
92LDLRp.Cys143ArgVAR_072828
93LDLRp.Cys148TyrVAR_072829
94LDLRp.Cys155TyrVAR_072830
95LDLRp.Asp172AsnVAR_072832
96LDLRp.Cys184TrpVAR_072833
97LDLRp.Arg300GlyVAR_072839
98LDLRp.Asp301GlyVAR_072840
99LDLRp.Thr454AsnVAR_072849
100LDLRp.Arg574CysVAR_072851
101LDLRp.Trp577GlyVAR_072853
102LDLRp.Val639AspVAR_072858
103LDLRp.Asn825LysVAR_072861

Clinvar genetic disease variations for Hypercholesterolemia, Familial:

5 (show all 1,420)
id Gene Variation Type Significance SNP ID Assembly Location
1LDLRNM_000527.4(LDLR): c.2475C> G (p.Asn825Lys)single nucleotide variantLikely pathogenicrs374045590GRCh38Chr 19, 11129598: 11129598
2LDLRNM_000527.4(LDLR): c.301G> A (p.Glu101Lys)single nucleotide variantLikely pathogenic, Pathogenicrs144172724GRCh38Chr 19, 11102774: 11102774
3LDLRNM_000527.4(LDLR): c.1201C> G (p.Leu401Val)single nucleotide variantLikely pathogenicrs146200173GRCh38Chr 19, 11113292: 11113292
4LDLRNM_000527.4(LDLR): c.862G> A (p.Glu288Lys)single nucleotide variantLikely pathogenicrs368657165GRCh38Chr 19, 11107436: 11107436
5LDLRNM_000527.4(LDLR): c.296C> G (p.Ser99Ter)single nucleotide variantPathogenicrs377271627GRCh37Chr 19, 11213445: 11213445
6LDLRNM_000527.4(LDLR): c.1467C> G (p.Tyr489Ter)single nucleotide variantPathogenicrs370777955GRCh37Chr 19, 11224319: 11224319
7LDLRNM_000527.4(LDLR): c.1775G> A (p.Gly592Glu)single nucleotide variantLikely pathogenic, Pathogenicrs137929307GRCh37Chr 19, 11227604: 11227604
8LDLRNM_000527.4(LDLR): c.1238C> T (p.Thr413Met)single nucleotide variantLikely pathogenic, Pathogenicrs368562025GRCh37Chr 19, 11224005: 11224005
9LDLRNM_000527.4(LDLR): c.1432G> A (p.Gly478Arg)single nucleotide variantLikely pathogenic, Pathogenicrs144614838GRCh37Chr 19, 11224284: 11224284
10LDLRNM_000527.4(LDLR): c.859G> A (p.Gly287Ser)single nucleotide variantLikely pathogenicrs375495026GRCh37Chr 19, 11218109: 11218109
11LDLRNM_000527.4(LDLR): c.907C> T (p.Arg303Trp)single nucleotide variantLikely pathogenicrs151207122GRCh37Chr 19, 11218157: 11218157
12LDLRNM_000527.4(LDLR): c.967G> A (p.Gly323Ser)single nucleotide variantLikely pathogenicrs373869746GRCh37Chr 19, 11221354: 11221354
13LDLRNM_000527.4(LDLR): c.1166C> T (p.Thr389Met)single nucleotide variantLikely pathogenicrs149227308GRCh37Chr 19, 11222295: 11222295
14LDLRNM_000527.4(LDLR): c.1444G> A (p.Asp482Asn)single nucleotide variantLikely pathogenic, Pathogenicrs139624145GRCh37Chr 19, 11224296: 11224296
15LDLRNM_000527.4(LDLR): c.232C> T (p.Arg78Cys)single nucleotide variantLikely pathogenic, Pathogenicrs370860696GRCh37Chr 19, 11213381: 11213381
16LDLRNM_000527.4(LDLR): c.1783C> T (p.Arg595Trp)single nucleotide variantLikely pathogenicrs373371572GRCh37Chr 19, 11227612: 11227612
17NM_000527.4(LDLR): c.1359-1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs139617694GRCh37Chr 19, 11224210: 11224210
18EPHX2NM_001979.5(EPHX2): c.860G> A (p.Arg287Gln)single nucleotide variantrisk factorrs751141GRCh37Chr 8, 27373865: 27373865
19APOBNM_000384.2(APOB): c.10580G> A (p.Arg3527Gln)single nucleotide variantLikely pathogenic, Pathogenicrs5742904GRCh37Chr 2, 21229160: 21229160
20APOBNM_000384.2(APOB): c.10672C> T (p.Arg3558Cys)single nucleotide variantPathogenicrs12713559GRCh37Chr 2, 21229068: 21229068
21APOA2APOA2, -265T-Csingle nucleotide variantrisk factor
22LDLRNM_000527.4(LDLR): c.1468T> C (p.Trp490Arg)single nucleotide variantLikely pathogenic, Pathogenicrs730880130GRCh37Chr 19, 11224320: 11224320
23LDLRNM_000527.4(LDLR): c.1186+1G> Tsingle nucleotide variantLikely pathogenicrs730880131GRCh38Chr 19, 11111640: 11111640
24LDLRNM_000527.4(LDLR): c.241C> T (p.Arg81Cys)single nucleotide variantLikely pathogenicrs730882078GRCh37Chr 19, 11213390: 11213390
25LDLRNM_000527.4(LDLR): c.352G> T (p.Asp118Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs730882080GRCh37Chr 19, 11215934: 11215934
26LDLRNM_000527.4(LDLR): c.409G> A (p.Gly137Ser)single nucleotide variantLikely pathogenicrs730882082GRCh37Chr 19, 11215991: 11215991
27LDLRNM_000527.4(LDLR): c.542C> G (p.Pro181Arg)single nucleotide variantLikely pathogenicrs557344672GRCh37Chr 19, 11216124: 11216124
28LDLRNM_000527.4(LDLR): c.589T> C (p.Cys197Arg)single nucleotide variantLikely pathogenic, Pathogenicrs730882085GRCh37Chr 19, 11216171: 11216171
29LDLRNM_000527.4(LDLR): c.662A> G (p.Asp221Gly)single nucleotide variantLikely pathogenic, Pathogenicrs373822756GRCh37Chr 19, 11216244: 11216244
30LDLRNM_000527.4(LDLR): c.665G> A (p.Cys222Tyr)single nucleotide variantLikely pathogenicrs730882086GRCh37Chr 19, 11216247: 11216247
31LDLRNM_000527.4(LDLR): c.846C> A (p.Phe282Leu)single nucleotide variantLikely pathogenicrs730882090GRCh37Chr 19, 11218096: 11218096
32LDLRNM_000527.4(LDLR): c.947A> G (p.Asn316Ser)single nucleotide variantLikely pathogenicrs730882094GRCh37Chr 19, 11221334: 11221334
33LDLRNM_000527.4(LDLR): c.1003G> A (p.Gly335Ser)single nucleotide variantLikely pathogenic, Pathogenicrs544453230GRCh37Chr 19, 11221390: 11221390
34LDLRNM_000527.4(LDLR): c.1027G> A (p.Gly343Ser)single nucleotide variantLikely pathogenic, Pathogenicrs730882096GRCh37Chr 19, 11221414: 11221414
35LDLRNM_000527.4(LDLR): c.1195G> A (p.Ala399Thr)single nucleotide variantLikely pathogenicrs730882099GRCh37Chr 19, 11223962: 11223962
36LDLRNM_000527.4(LDLR): c.1246C> T (p.Arg416Trp)single nucleotide variantLikely pathogenic, Pathogenicrs570942190GRCh37Chr 19, 11224013: 11224013
37LDLRNM_000527.4(LDLR): c.1294C> G (p.Leu432Val)single nucleotide variantLikely pathogenicrs730882100GRCh37Chr 19, 11224061: 11224061
38LDLRNM_000527.4(LDLR): c.1414G> T (p.Asp472Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs730882102GRCh37Chr 19, 11224266: 11224266
39LDLRNM_000527.4(LDLR): c.1570G> A (p.Val524Met)single nucleotide variantLikely pathogenicrs730882105GRCh38Chr 19, 11113746: 11113746
40LDLRNM_000527.4(LDLR): c.1576C> T (p.Pro526Ser)single nucleotide variantLikely pathogenicrs730882106GRCh37Chr 19, 11224428: 11224428
41LDLRNM_000527.4(LDLR): c.1720C> T (p.Arg574Cys)single nucleotide variantLikely pathogenic, Pathogenicrs185098634GRCh38Chr 19, 11116873: 11116873
42LDLRNM_000527.4(LDLR): c.1747C> G (p.His583Asp)single nucleotide variantLikely pathogenicrs730882109GRCh37Chr 19, 11227576: 11227576
43LDLRNM_000527.4(LDLR): c.1784G> A (p.Arg595Gln)single nucleotide variantLikely pathogenic, Pathogenicrs201102492GRCh37Chr 19, 11227613: 11227613
44LDLRNM_000527.4(LDLR): c.502G> A (p.Asp168Asn)single nucleotide variantLikely pathogenic, Pathogenicrs200727689GRCh37Chr 19, 11216084: 11216084
45LDLRNM_000527.4(LDLR): c.313+2T> Csingle nucleotide variantLikely pathogenic, Pathogenicrs793888517GRCh37Chr 19, 11213464: 11213464
46LDLRNM_000527.4(LDLR): c.811G> A (p.Val271Ile)single nucleotide variantLikely pathogenicrs749220643GRCh38Chr 19, 11106681: 11106681
47LDLRNM_000527.4(LDLR): c.828C> A (p.Cys276Ter)single nucleotide variantPathogenicrs146651743GRCh38Chr 19, 11107402: 11107402
48PCSK9NM_174936.3(PCSK9): c.610G> A (p.Asp204Asn)single nucleotide variantLikely pathogenicrs793888521GRCh37Chr 1, 55518037: 55518037
49STAP1NM_012108.3(STAP1): c.139A> G (p.Thr47Ala)single nucleotide variantLikely pathogenicrs793888522GRCh37Chr 4, 68436820: 68436820
50LDLRNM_000527.4(LDLR): c.501C> A (p.Cys167Ter)single nucleotide variantPathogenicrs752596535GRCh37Chr 19, 11216083: 11216083
51LDLRNM_000527.4(LDLR): c.590G> A (p.Cys197Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs376459828GRCh38Chr 19, 11105496: 11105496
52LDLRNM_000527.4(LDLR): c.718G> A (p.Glu240Lys)single nucleotide variantLikely pathogenic, Pathogenicrs768563000GRCh38Chr 19, 11106588: 11106588
53LDLRNM_000527.4(LDLR): c.1747C> T (p.His583Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs730882109GRCh38Chr 19, 11116900: 11116900
54LDLRNM_000527.4(LDLR): c.1916T> A (p.Val639Asp)single nucleotide variantPathogenicrs794728584GRCh38Chr 19, 11120162: 11120162
55LDLRNM_000527.4(LDLR): c.1478_1479delCT (p.Ser493Cysfs)deletionPathogenicrs869025453GRCh38Chr 19, 11113654: 11113655
56LDLRNM_000527.4(LDLR): c.1486_1487delGG (p.Gly496Hisfs)deletionLikely pathogenic, Pathogenicrs869025454GRCh38Chr 19, 11113662: 11113663
57LDLRNM_000527.4(LDLR): c.1691A> G (p.Asn564Ser)single nucleotide variantLikely pathogenicrs758194385GRCh38Chr 19, 11116198: 11116198
58LDLRNM_000527.4(LDLR): c.508G> A (p.Asp170Asn)single nucleotide variantLikely pathogenicrs139089530GRCh38Chr 19, 11105414: 11105414
59LDLRNM_000527.4(LDLR): c.190+4A> Tsingle nucleotide variantPathogenicrs769446356GRCh37Chr 19, 11211025: 11211025
60LDLRNM_000527.4(LDLR): c.355G> A (p.Gly119Arg)single nucleotide variantLikely pathogenicrs869320648GRCh38Chr 19, 11105261: 11105261
61LDLRNM_000527.4(LDLR): c.660_661insTG (p.Asp221Trpfs)insertionLikely pathogenicrs869320649GRCh37Chr 19, 11216242: 11216243
62LDLRNM_000527.4(LDLR): c.1004G> A (p.Gly335Asp)single nucleotide variantLikely pathogenicrs869320650GRCh38Chr 19, 11110715: 11110715
63LDLRNM_000527.4(LDLR): c.1252G> A (p.Glu418Lys)single nucleotide variantLikely pathogenicrs869320651GRCh37Chr 19, 11224019: 11224019
64LDLRNM_000527.4(LDLR): c.2140G> T (p.Glu714Ter)single nucleotide variantLikely pathogenic, Pathogenicrs869320652GRCh37Chr 19, 11231198: 11231198
65LDLRNM_000527.4(LDLR): c.344G> A (p.Arg115His)single nucleotide variantLikely pathogenicrs201102461GRCh38Chr 19, 11105250: 11105250
66LDLRNM_000527.4(LDLR): c.1846-2179_2140+2154deldeletionPathogenicGRCh38Chr 19, 11117913: 11122676
67LDLRNM_000527.4(LDLR): c.-120C> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs875989886GRCh37Chr 19, 11200105: 11200105
68LDLRNM_000527.4(LDLR): c.-140C> Tsingle nucleotide variantLikely pathogenicrs875989887GRCh37Chr 19, 11200085: 11200085
69LDLRNM_000527.4(LDLR): c.-121T> Csingle nucleotide variantLikely pathogenicrs777716188GRCh37Chr 19, 11200104: 11200104
70LDLRNM_000527.4(LDLR): c.6delG (p.Trp4Glyfs)deletionPathogenicrs875989888GRCh37Chr 19, 11200230: 11200230
71LDLRNM_000527.4(LDLR): c.81C> G (p.Cys27Trp)single nucleotide variantLikely pathogenic, Pathogenicrs2228671GRCh37Chr 19, 11210912: 11210912
72LDLRNM_000527.4(LDLR): c.82G> T (p.Glu28Ter)single nucleotide variantPathogenicrs551747280GRCh38Chr 19, 11100237: 11100237
73LDLRNM_000527.4(LDLR): c.191-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs544203837GRCh38Chr 19, 11102662: 11102662
74LDLRNM_000527.4(LDLR): c.196_197delGT (p.Val66Hisfs)deletionPathogenicrs875989889GRCh38Chr 19, 11102669: 11102670
75LDLRNM_000527.4(LDLR): c.224G> A (p.Cys75Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs875989890GRCh38Chr 19, 11102697: 11102697
76LDLRNM_000527.4(LDLR): c.246C> A (p.Cys82Ter)single nucleotide variantPathogenicrs875989891GRCh38Chr 19, 11102719: 11102719
77LDLRNM_000527.4(LDLR): c.251C> T (p.Pro84Leu)single nucleotide variantLikely pathogenic, Pathogenicrs875989892GRCh38Chr 19, 11102724: 11102724
78LDLRNM_000527.4(LDLR): c.253C> T (p.Gln85Ter)single nucleotide variantPathogenicrs875989893GRCh38Chr 19, 11102726: 11102726
79LDLRNM_000527.4(LDLR): c.266G> A (p.Cys89Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs875989894GRCh37Chr 19, 11213415: 11213415
80LDLRNM_000527.4(LDLR): c.269A> G (p.Asp90Gly)single nucleotide variantLikely pathogenic, Pathogenicrs771019366GRCh38Chr 19, 11102742: 11102742
81LDLRNM_000527.4(LDLR): c.304C> T (p.Gln102Ter)single nucleotide variantPathogenicrs563390335GRCh38Chr 19, 11102777: 11102777
82LDLRNM_000527.4(LDLR): c.311G> A (p.Cys104Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs875989895GRCh38Chr 19, 11102784: 11102784
83LDLRNM_000527.4(LDLR): c.313_313+1delCGdeletionPathogenicrs875989896GRCh38Chr 19, 11102786: 11102787
84LDLRNM_000527.4(LDLR): c.313+2dupTduplicationLikely pathogenic, Pathogenicrs875989897GRCh37Chr 19, 11213464: 11213464
85LDLRNM_000527.4(LDLR): c.318delC (p.Lys107Argfs)deletionPathogenicrs875989898GRCh37Chr 19, 11215900: 11215900
86LDLRNM_000527.4(LDLR): c.326G> A (p.Cys109Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs121908042GRCh38Chr 19, 11105232: 11105232
87LDLRNM_000527.4(LDLR): c.337G> T (p.Glu113Ter)single nucleotide variantPathogenicrs769383881GRCh38Chr 19, 11105243: 11105243
88LDLRNM_000527.4(LDLR): c.400T> C (p.Cys134Arg)single nucleotide variantLikely pathogenic, Pathogenicrs875989900GRCh38Chr 19, 11105306: 11105306
89LDLRNM_000527.4(LDLR): c.417C> G (p.Asp139Glu)single nucleotide variantLikely pathogenic, Pathogenicrs537484504GRCh38Chr 19, 11105323: 11105323
90LDLRNM_000527.4(LDLR): c.427T> G (p.Cys143Gly)single nucleotide variantLikely pathogenic, Pathogenicrs875989901GRCh37Chr 19, 11216009: 11216009
91LDLRNM_000527.4(LDLR): c.429C> A (p.Cys143Ter)single nucleotide variantPathogenicrs199774121GRCh37Chr 19, 11216011: 11216011
92LDLRNM_000527.4(LDLR): c.533A> T (p.Asp178Val)single nucleotide variantLikely pathogenic, Pathogenicrs875989902GRCh38Chr 19, 11105439: 11105439
93LDLRNM_000527.4(LDLR): c.648dupT (p.Asp217Terfs)duplicationPathogenicrs875989903GRCh37Chr 19, 11216230: 11216230
94LDLRNM_000527.4(LDLR): c.654_656delTGG (p.Gly219del)deletionLikely pathogenic, Pathogenicrs121908027GRCh38Chr 19, 11105560: 11105562
95LDLRNM_000527.4(LDLR): c.660delC (p.Asp221Thrfs)deletionPathogenicrs875989905GRCh37Chr 19, 11216242: 11216242
96LDLRNM_000527.4(LDLR): c.661G> A (p.Asp221Asn)single nucleotide variantLikely pathogenic, Pathogenicrs875989906GRCh38Chr 19, 11105567: 11105567
97LDLRNM_000527.4(LDLR): c.664T> C (p.Cys222Arg)single nucleotide variantLikely pathogenic, Pathogenicrs577934998GRCh37Chr 19, 11216246: 11216246
98LDLRNM_000527.4(LDLR): c.682G> T (p.Glu228Ter)single nucleotide variantPathogenicrs121908029GRCh38Chr 19, 11105588: 11105588
99LDLRNM_000527.4(LDLR): c.796G> A (p.Asp266Asn)single nucleotide variantLikely pathogenic, Pathogenicrs875989907GRCh37Chr 19, 11217342: 11217342
100LDLRNM_000527.4(LDLR): c.908_926dup19 (p.Ile310Glyfs)duplicationPathogenicrs875989908GRCh37Chr 19, 11218158: 11218176
101LDLRNM_000527.4(LDLR): c.912C> G (p.Asp304Glu)single nucleotide variantLikely pathogenic, Pathogenicrs875989909GRCh37Chr 19, 11218162: 11218162
102LDLRNM_000527.4(LDLR): c.917C> T (p.Ser306Leu)single nucleotide variantLikely pathogenic, Pathogenicrs11547917GRCh37Chr 19, 11218167: 11218167
103LDLRNM_000527.4(LDLR): c.938_939delGCinsAT (p.Cys313Tyr)indelLikely pathogenic, Pathogenicrs875989910GRCh37Chr 19, 11218188: 11218189
104LDLRNM_000527.4(LDLR): c.938G> A (p.Cys313Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs875989911GRCh37Chr 19, 11218188: 11218188
105LDLRNM_000527.4(LDLR): c.940+2T> Csingle nucleotide variantLikely pathogenic, Pathogenicrs875989912GRCh38Chr 19, 11107516: 11107516
106LDLRNM_000527.4(LDLR): c.1033C> T (p.Gln345Ter)single nucleotide variantPathogenicrs875989913GRCh38Chr 19, 11110744: 11110744
107LDLRNM_000527.4(LDLR): c.1048C> T (p.Arg350Ter)single nucleotide variantPathogenicrs769737896GRCh38Chr 19, 11110759: 11110759
108LDLRNM_000527.4(LDLR): c.1049G> C (p.Arg350Pro)single nucleotide variantLikely pathogenic, Pathogenicrs875989914GRCh37Chr 19, 11221436: 11221436
109LDLRNM_000527.4(LDLR): c.986G> A (p.Cys329Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs761954844GRCh37Chr 19, 11221373: 11221373
110LDLRNM_000527.4(LDLR): c.1066G> T (p.Asp356Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs767767730GRCh37Chr 19, 11222195: 11222195
111LDLRNM_000527.4(LDLR): c.1073G> A (p.Cys358Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs875989915GRCh38Chr 19, 11111526: 11111526
112LDLRNM_000527.4(LDLR): c.1118_1121dupGTGG (p.Tyr375Trpfs)duplicationPathogenicrs875989916GRCh38Chr 19, 11111571: 11111574
113LDLRNM_000527.4(LDLR): c.1162delC (p.His388Thrfs)deletionPathogenicrs875989917GRCh38Chr 19, 11111615: 11111615
114LDLRNM_000527.4(LDLR): c.1187-10G> Asingle nucleotide variantPathogenicrs765696008GRCh38Chr 19, 11113268: 11113268
115LDLRNM_000527.4(LDLR): c.1196C> A (p.Ala399Asp)single nucleotide variantLikely pathogenic, Pathogenicrs875989918GRCh37Chr 19, 11223963: 11223963
116LDLRNM_000527.4(LDLR): c.1216C> T (p.Arg406Trp)single nucleotide variantLikely pathogenic, Pathogenicrs121908043GRCh38Chr 19, 11113307: 11113307
117LDLRNM_000527.4(LDLR): c.1217G> C (p.Arg406Pro)single nucleotide variantLikely pathogenic, Pathogenicrs552422789GRCh38Chr 19, 11113308: 11113308
118LDLRNM_000527.4(LDLR): c.1285G> C (p.Val429Leu)single nucleotide variantLikely pathogenicrs28942078GRCh37Chr 19, 11224052: 11224052
119LDLRNM_000527.4(LDLR): c.1330T> C (p.Ser444Pro)single nucleotide variantLikely pathogenic, Pathogenicrs875989919GRCh37Chr 19, 11224097: 11224097
120LDLRNM_000527.4(LDLR): c.1371_1374dupCAGA (p.Ala459Glnfs)duplicationPathogenicrs875989920GRCh37Chr 19, 11224223: 11224226
121LDLRNM_000527.4(LDLR): c.1448G> A (p.Trp483Ter)single nucleotide variantPathogenicrs875989921GRCh37Chr 19, 11224300: 11224300
122LDLRNM_000527.4(LDLR): c.1469G> A (p.Trp490Ter)single nucleotide variantPathogenicrs875989922GRCh38Chr 19, 11113645: 11113645
123LDLRNM_000527.4(LDLR): c.1469G> T (p.Trp490Leu)single nucleotide variantPathogenicrs875989922GRCh37Chr 19, 11224321: 11224321
124LDLRNM_000527.4(LDLR): c.1555C> A (p.Pro519Thr)single nucleotide variantPathogenicrs875989923GRCh37Chr 19, 11224407: 11224407
125LDLRNM_000527.4(LDLR): c.1588T> G (p.Phe530Val)single nucleotide variantPathogenicrs875989924GRCh38Chr 19, 11116095: 11116095
126LDLRNM_000527.4(LDLR): c.1592T> G (p.Met531Arg)single nucleotide variantPathogenicrs779913921GRCh38Chr 19, 11116099: 11116099
127LDLRNM_000527.4(LDLR): c.1618G> A (p.Ala540Thr)single nucleotide variantLikely pathogenic, Pathogenicrs769370816GRCh38Chr 19, 11116125: 11116125
128LDLRNM_000527.4(LDLR): c.1685G> A (p.Trp562Ter)single nucleotide variantPathogenicrs875989925GRCh37Chr 19, 11226868: 11226868
129LDLRNM_000527.4(LDLR): c.1690A> C (p.Asn564His)single nucleotide variantPathogenicrs397509365GRCh37Chr 19, 11226873: 11226873
130LDLRNM_000527.4(LDLR): c.1694G> C (p.Gly565Ala)single nucleotide variantLikely pathogenic, Pathogenicrs28942082GRCh37Chr 19, 11226877: 11226877
131LDLRNM_000527.4(LDLR): c.1705+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs875989926GRCh38Chr 19, 11116213: 11116213
132LDLRNM_000527.4(LDLR): c.1715_1719delGTGGCinsA (p.Ser572Asnfs)indelPathogenicrs875989927GRCh38Chr 19, 11116868: 11116872
133LDLRNM_000527.4(LDLR): c.1731G> A (p.Trp577Ter)single nucleotide variantPathogenicrs875989928GRCh37Chr 19, 11227560: 11227560
134LDLRNM_000527.4(LDLR): c.1735G> T (p.Asp579Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs875989929GRCh37Chr 19, 11227564: 11227564
135LDLRNM_000527.4(LDLR): c.1745T> C (p.Leu582Pro)single nucleotide variantLikely pathogenic, Pathogenicrs875989930GRCh38Chr 19, 11116898: 11116898
136LDLRNM_000527.4(LDLR): c.1814T> C (p.Leu605Pro)single nucleotide variantLikely pathogenic, Pathogenicrs875989932GRCh37Chr 19, 11227643: 11227643
137LDLRNM_000527.4(LDLR): c.1845+11C> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs370245937GRCh37Chr 19, 11227685: 11227685
138LDLRNM_000527.4(LDLR): c.1860G> T (p.Trp620Cys)single nucleotide variantLikely pathogenic, Pathogenicrs875989933GRCh37Chr 19, 11230782: 11230782
139LDLRNM_000527.4(LDLR): c.1880C> A (p.Ala627Asp)single nucleotide variantLikely pathogenic, Pathogenicrs875989934GRCh38Chr 19, 11120126: 11120126
140LDLRNM_000527.4(LDLR): c.1897C> T (p.Arg633Cys)single nucleotide variantLikely pathogenic, Pathogenicrs746118995GRCh37Chr 19, 11230819: 11230819
141LDLRNM_000527.4(LDLR): c.1898G> A (p.Arg633His)single nucleotide variantLikely pathogenic, Pathogenicrs754536745GRCh38Chr 19, 11120144: 11120144
142LDLRNM_000527.4(LDLR): c.1954_1955delAT (p.Met652Glyfs)deletionPathogenicrs875989935GRCh37Chr 19, 11230876: 11230877
143LDLRNM_000527.4(LDLR): c.1955T> C (p.Met652Thr)single nucleotide variantPathogenicrs875989936GRCh38Chr 19, 11120201: 11120201
144LDLRNM_000527.4(LDLR): c.2027delG (p.Gly676Alafs)deletionPathogenicrs875989937GRCh38Chr 19, 11120409: 11120409
145LDLRNM_000527.4(LDLR): c.2029T> C (p.Cys677Arg)single nucleotide variantLikely pathogenic, Pathogenicrs775092314GRCh37Chr 19, 11231087: 11231087
146LDLRNM_000527.4(LDLR): c.2030G> T (p.Cys677Phe)single nucleotide variantLikely pathogenic, Pathogenicrs875989938GRCh38Chr 19, 11120412: 11120412
147LDLRNM_000527.4(LDLR): c.2140G> C (p.Glu714Gln)single nucleotide variantLikely pathogenic, Pathogenicrs869320652GRCh37Chr 19, 11231198: 11231198
148LDLRNM_000527.4(LDLR): c.2271delT (p.Leu759Serfs)deletionPathogenicrs875989940GRCh37Chr 19, 11233980: 11233980
149LDLRNM_000527.4(LDLR): c.2292delA (p.Ile764Metfs)deletionPathogenicrs875989941GRCh38Chr 19, 11123325: 11123325
150LDLRNM_000527.4(LDLR): c.2312-3C> Asingle nucleotide variantLikely pathogenic, Pathogenicrs875989942GRCh37Chr 19, 11238681: 11238681
151LDLRNM_000527.4(LDLR): c.2344A> T (p.Lys782Ter)single nucleotide variantPathogenicrs875989943GRCh37Chr 19, 11238716: 11238716
152LDLRNM_000527.4(LDLR): c.2389G> A (p.Val797Met)single nucleotide variantLikely pathogenic, Pathogenicrs750518671GRCh37Chr 19, 11238761: 11238761
153LDLRNM_000527.4(LDLR): c.2397_2405delCGTCTTCCT (p.Val800_Leu802del)deletionLikely pathogenic, Pathogenicrs875989944GRCh37Chr 19, 11240196: 11240204
154LDLRNM_000527.4(LDLR): c.2483A> C (p.Tyr828Ser)single nucleotide variantLikely pathogenic, Pathogenicrs28942085GRCh38Chr 19, 11129606: 11129606
155LDLRNM_000527.4(LDLR): c.1587-?_2140+?deldeletionPathogenicGRCh37Chr 19, 11226769: 11231199
156LDLRNM_000527.4(LDLR): c.1587-?_1845+?deldeletionPathogenicGRCh37Chr 19, 11226769: 11227675
157LDLRNM_000527.4(LDLR): c.818-?_1186+?deldeletionPathogenicGRCh37Chr 19, 11218067: 11222316
158LDLRNM_000527.4(LDLR): c.2141-?_2311+?deldeletionPathogenicGRCh37Chr 19, 11233849: 11234021
159LDLRNM_000527.4(LDLR): c.941-?_1186+?dupduplicationPathogenicGRCh37Chr 19, 11221327: 11222316
160LDLRNM_000527.4(LDLR): c.1187-?_1586+?deldeletionPathogenicGRCh37Chr 19, 11223953: 11224439
161LDLRNM_000527.4(LDLR): c.2390-?_2547+?deldeletionPathogenicGRCh37Chr 19, 11240188: 11240347
162LDLRNM_000527.4(LDLR): c.1846-?_2140+?dupduplicationPathogenicGRCh37Chr 19, 11230767: 11231199
163LDLRNM_000527.4(LDLR): c.191-?_1186+?dupduplicationPathogenicGRCh37Chr 19, 11213339: 11222316
164LDLRNM_000527.4(LDLR): c.314-?_694+?deldeletionPathogenicGRCh37Chr 19, 11215895: 11216277
165LDLRNM_000527.4(LDLR): c.2141-?_(2583_?)deldeletionPathogenicGRCh37Chr 19, 11233849: 11244506
166LDLRNM_000527.4(LDLR): c.314-?_1060+?deldeletionPathogenicGRCh37Chr 19, 11215895: 11221447
167LDLRNM_000527.4(LDLR): c.1428dupC (p.Asp477Argfs)duplicationPathogenicrs876657697GRCh37Chr 19, 11224280: 11224280
168LDLRNM_000527.4(LDLR): c.313+1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs112029328GRCh38Chr 19, 11102787: 11102787
169LDLRNM_000527.4(LDLR): c.1217G> A (p.Arg406Gln)single nucleotide variantLikely pathogenicrs552422789GRCh38Chr 19, 11113308: 11113308
170LDLRNM_000527.4(LDLR): c.12G> A (p.Trp4Ter)single nucleotide variantPathogenicrs756039188GRCh37Chr 19, 11200236: 11200236
171LDLRNM_000527.4(LDLR): c.1586G> A (p.Gly529Asp)single nucleotide variantLikely pathogenicrs878854025GRCh38Chr 19, 11113762: 11113762
172LDLRNM_000527.4(LDLR): c.166T> C (p.Ser56Pro)single nucleotide variantLikely pathogenicrs878854026GRCh38Chr 19, 11100321: 11100321
173LDLRNM_000527.4(LDLR): c.1706-2A> Tsingle nucleotide variantPathogenicrs878854027GRCh38Chr 19, 11116857: 11116857
174LDLRNM_000527.4(LDLR): c.1721G> T (p.Arg574Leu)single nucleotide variantLikely pathogenicrs777188764GRCh38Chr 19, 11116874: 11116874
175LDLRNM_000527.4(LDLR): c.379delG (p.Val127Serfs)deletionPathogenicrs878854028GRCh37Chr 19, 11215961: 11215961
176LDLRNG_009060.1: g.3346_16531del13186deletionPathogenic
177LDLRNC_000019.9: g.(?_11200038)_(11200292_11210898)dupduplicationLikely pathogenicGRCh37Chr 19, 11200038: 11210898
178LDLRNC_000019.9: g.(?_11200038)_(11200292_11210898)deldeletionPathogenicGRCh37Chr 19, 11200038: 11210898
179LDLRNC_000019.9: g.(?_11200038)_(11211022_11213339)deldeletionPathogenicGRCh37Chr 19, 11200038: 11213339
180LDLRNC_000019.9: g.(?_11200038)_(11218191_11221327)deldeletionPathogenicGRCh37Chr 19, 11200038: 11221327
181LDLRNC_000019.9: g.(?_11200038)_(11221448_11222189)deldeletionPathogenicGRCh37Chr 19, 11200038: 11222189
182LDLRNC_000019.9: g.(?_11200038)_(11222316_11223953)deldeletionPathogenicGRCh37Chr 19, 11200038: 11223953
183LDLRNC_000019.9: g.(?_11200038)_(11227675_11230767)deldeletionPathogenicGRCh37Chr 19, 11200038: 11230767
184LDLRNC_000019.9: g.(?_11200038)_(11231199_11233849)deldeletionPathogenicGRCh37Chr 19, 11200038: 11233849
185LDLRNC_000019.9: g.(?_11200038)_(11234021_11238683)deldeletionPathogenicGRCh37Chr 19, 11200038: 11238683
186LDLRNC_000019.9: g.(?_11200038)_(11244576_?)deldeletionPathogenicGRCh37Chr 19, 11200038: 11244576
187LDLRNM_000527.4(LDLR): c.-185_-183delCTTdeletionLikely pathogenicGRCh37Chr 19, 11200040: 11200042
188LDLRNM_000527.4(LDLR): c.-156C> Tsingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11089393: 11089393
189LDLRNM_000527.4(LDLR): c.-155_-154delACinsTTCTGCAAACTCCTindelLikely pathogenicGRCh37Chr 19, 11200070: 11200071
190LDLRNM_000527.4(LDLR): c.-152C> Tsingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11089397: 11089397
191LDLRNM_000527.4(LDLR): c.-140C> Gsingle nucleotide variantLikely pathogenicrs875989887GRCh37Chr 19, 11200085: 11200085
192LDLRNM_000527.4(LDLR): c.-139C> Gsingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11089410: 11089410
193LDLRNM_000527.4(LDLR): c.-138T> Csingle nucleotide variantLikely pathogenicGRCh37Chr 19, 11200087: 11200087
194LDLRNM_000527.4(LDLR): c.-136C> Gsingle nucleotide variantLikely pathogenicGRCh37Chr 19, 11200089: 11200089
195LDLRNM_000527.4(LDLR): c.-136C> Tsingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11089413: 11089413
196LDLRNM_000527.4(LDLR): c.-135C> Gsingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11089414: 11089414
197LDLRNM_000527.4(LDLR): c.-101T> Csingle nucleotide variantLikely pathogenicrs747068848GRCh37Chr 19, 11200124: 11200124
198LDLRNM_000527.4(LDLR): c.1A> C (p.Met1Leu)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11089549: 11089549
199LDLRNM_000527.4(LDLR): c.1A> G (p.Met1Val)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11200225: 11200225
200LDLRNM_000527.4(LDLR): c.1A> T (p.Met1Leu)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11089549: 11089549
201LDLRNM_000527.4(LDLR): c.3G> T (p.Met1Ile)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11200227: 11200227
202LDLRNM_000527.4(LDLR): c.9delC (p.Trp4Glyfs)deletionPathogenicGRCh38Chr 19, 11089557: 11089557
203LDLRNM_000527.4(LDLR): c.11G> A (p.Trp4Ter)single nucleotide variantPathogenicrs201016593GRCh37Chr 19, 11200235: 11200235
204LDLRNM_000527.4(LDLR): c.28_38delTGGACCGTCGC (p.Trp10Leufs)deletionPathogenicGRCh38Chr 19, 11089576: 11089586
205LDLRNM_000527.4(LDLR): c.28T> A (p.Trp10Arg)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11200252: 11200252
206LDLRNM_000527.4(LDLR): c.28T> C (p.Trp10Arg)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11089576: 11089576
207LDLRNM_000527.4(LDLR): c.33_36dupCGTC (p.Ala13Argfs)duplicationPathogenicGRCh38Chr 19, 11089581: 11089584
208LDLRNM_000527.4(LDLR): c.41delT (p.Leu14Cysfs)deletionPathogenicGRCh37Chr 19, 11200265: 11200265
209LDLRNM_000527.4(LDLR): c.41dupT (p.Leu14Phefs)duplicationPathogenicGRCh37Chr 19, 11200265: 11200265
210LDLRNM_000527.4(LDLR): c.44T> A (p.Leu15His)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11200268: 11200268
211LDLRNM_000527.4(LDLR): c.47T> C (p.Leu16Pro)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11200271: 11200271
212LDLRNM_000527.4(LDLR): c.64delG (p.Ala22Glnfs)deletionPathogenicGRCh38Chr 19, 11089612: 11089612
213LDLRNM_000527.4(LDLR): c.67+2T> Asingle nucleotide variantLikely pathogenicGRCh37Chr 19, 11200293: 11200293
214LDLRNG_009060.1: g.9203_23430dup14228duplicationLikely pathogenic
215LDLRNG_009060.1: g.9996_22680del12685deletionPathogenic
216LDLRNM_000527.4(LDLR): c.68-5_68-2delCTCAdeletionLikely pathogenicGRCh38Chr 19, 11100218: 11100221
217LDLRNM_000527.4(LDLR): c.68-2A> Gsingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11100221: 11100221
218LDLRNM_000527.4(LDLR): c.68-2A> Tsingle nucleotide variantLikely pathogenicGRCh37Chr 19, 11210897: 11210897
219LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11200292: 11213339
220LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11200292: 11217240
221LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11200292: 11218067
222LDLRNC_000019.9duplicationLikely pathogenicGRCh37Chr 19, 11200292: 11218067
223LDLRNC_000019.9duplicationLikely pathogenicGRCh37Chr 19, 11200292: 11223953
224LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11200292: 11226769
225LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11200292: 11227534
226LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11200292: 11230767
227LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11200292: 11233849
228LDLRNC_000019.9duplicationLikely pathogenicGRCh37Chr 19, 11200292: 11238683
229LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11200292: 11241956
230LDLRNM_000527.4(LDLR): c.68-1G> Csingle nucleotide variantPathogenicGRCh37Chr 19, 11210898: 11210898
231LDLRNM_000527.4(LDLR): c.76A> T (p.Arg26Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11100231: 11100231
232LDLRNM_000527.4(LDLR): c.76delA (p.Arg26Aspfs)deletionPathogenicGRCh38Chr 19, 11100231: 11100231
233LDLRNM_000527.4(LDLR): c.77_78delGA (p.Arg26Metfs)deletionPathogenicGRCh38Chr 19, 11100232: 11100233
234LDLRNM_000527.4(LDLR): c.81C> A (p.Cys27Ter)single nucleotide variantPathogenicrs2228671GRCh37Chr 19, 11210912: 11210912
235LDLRNM_000527.4(LDLR): c.85A> T (p.Arg29Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11100240: 11100240
236LDLRNM_000527.4(LDLR): c.91G> A (p.Glu31Lys)single nucleotide variantLikely pathogenicrs776421777GRCh37Chr 19, 11210922: 11210922
237LDLRNM_000527.4(LDLR): c.91G> T (p.Glu31Ter)single nucleotide variantPathogenicrs776421777GRCh37Chr 19, 11210922: 11210922
238LDLRNM_000527.4(LDLR): c.93_99delGTTCCAG (p.Glu31Aspfs)deletionPathogenicGRCh38Chr 19, 11100248: 11100254
239LDLRNM_000527.4(LDLR): c.95T> G (p.Phe32Cys)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11210926: 11210926
240LDLRNM_000527.4(LDLR): c.99delG (p.Gln33Hisfs)deletionPathogenicGRCh37Chr 19, 11210930: 11210930
241LDLRNM_000527.4(LDLR): c.100T> G (p.Cys34Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11100255: 11100255
242LDLRNM_000527.4(LDLR): c.101G> C (p.Cys34Ser)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11100256: 11100256
243LDLRNM_000527.4(LDLR): c.102C> A (p.Cys34Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11100257: 11100257
244LDLRNM_000527.4(LDLR): c.103C> T (p.Gln35Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11210934: 11210934
245LDLRNM_000527.4(LDLR): c.108C> A (p.Asp36Glu)single nucleotide variantLikely pathogenicrs373144619GRCh38Chr 19, 11100263: 11100263
246LDLRNM_000527.4(LDLR): c.108delC (p.Asp36Glufs)deletionPathogenicGRCh38Chr 19, 11100263: 11100263
247LDLRNM_000527.4(LDLR): c.114dupA (p.Cys39Metfs)duplicationPathogenicGRCh38Chr 19, 11100269: 11100269
248LDLRNM_000527.4(LDLR): c.116_117delGCinsAA (p.Cys39Ter)indelPathogenicGRCh37Chr 19, 11210947: 11210948
249LDLRNM_000527.4(LDLR): c.117delC (p.Cys39Terfs)deletionPathogenicGRCh37Chr 19, 11210948: 11210948
250LDLRNM_000527.4(LDLR): c.118delA (p.Ile40Serfs)deletionPathogenicGRCh37Chr 19, 11210949: 11210949
251LDLRNM_000527.4(LDLR): c.126C> A (p.Tyr42Ter)single nucleotide variantPathogenicrs751317621GRCh37Chr 19, 11210957: 11210957
252LDLRNM_000527.4(LDLR): c.131_132dupGG (p.Val45Glyfs)duplicationPathogenicGRCh37Chr 19, 11210962: 11210963
253LDLRNM_000527.4(LDLR): c.136T> G (p.Cys46Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11100291: 11100291
254LDLRNM_000527.4(LDLR): c.137G> A (p.Cys46Tyr)single nucleotide variantLikely pathogenicrs121908041GRCh37Chr 19, 11210968: 11210968
255LDLRNM_000527.4(LDLR): c.138C> A (p.Cys46Ter)single nucleotide variantPathogenicrs754676104GRCh37Chr 19, 11210969: 11210969
256LDLRNM_000527.4(LDLR): c.139_144delGATGGC (p.Asp47_Gly48del)deletionLikely pathogenic, Pathogenicrs387906301GRCh38Chr 19, 11100294: 11100299
257LDLRNM_000527.4(LDLR): c.139G> A (p.Asp47Asn)single nucleotide variantLikely pathogenicrs778284147GRCh37Chr 19, 11210970: 11210970
258LDLRNM_000527.4(LDLR): c.148delG (p.Ala50Leufs)deletionPathogenicGRCh38Chr 19, 11100303: 11100303
259LDLRNM_000527.4(LDLR): c.155G> A (p.Cys52Tyr)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11210986: 11210986
260LDLRNM_000527.4(LDLR): c.157C> T (p.Gln53Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11100312: 11100312
261LDLRNM_000527.4(LDLR): c.169G> A (p.Asp57Asn)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11100324: 11100324
262LDLRNM_000527.4(LDLR): c.171_173delTGA (p.Asp57del)deletionLikely pathogenicGRCh38Chr 19, 11100326: 11100328
263LDLRNM_000527.4(LDLR): c.172delG (p.Glu58Serfs)deletionPathogenicGRCh37Chr 19, 11211003: 11211003
264LDLRNM_000527.4(LDLR): c.172G> A (p.Glu58Lys)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11211003: 11211003
265LDLRNM_000527.4(LDLR): c.173A> G (p.Glu58Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11100328: 11100328
266LDLRNM_000527.4(LDLR): c.185_186insT (p.Cys63Valfs)insertionPathogenicGRCh38Chr 19, 11100340: 11100341
267LDLRNM_000527.4(LDLR): c.187T> C (p.Cys63Arg)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11211018: 11211018
268LDLRNM_000527.4(LDLR): c.188G> A (p.Cys63Tyr)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11211019: 11211019
269LDLRNM_000527.4(LDLR): c.190+1G> Asingle nucleotide variantLikely pathogenicGRCh37Chr 19, 11211022: 11211022
270LDLRNM_000527.4(LDLR): c.190+1G> Tsingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11100346: 11100346
271LDLRNM_000527.4(LDLR): c.190+2_190+3dupduplicationPathogenicGRCh38Chr 19, 11100347: 11100348
272LDLRNM_000527.4(LDLR): c.190+2T> Gsingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11100347: 11100347
273LDLRNG_009060.1: g.16949_34552del17604deletionPathogenic
274LDLRNG_009060.1: g.17772_23765del5994deletionPathogenic
275LDLRNM_000527.4(LDLR): c.191-2delinsCTindelLikely pathogenicGRCh38Chr 19, 11102662: 11102662
276LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11211022: 11215895
277LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11211022: 11217240
278LDLRNC_000019.9duplicationLikely pathogenicGRCh37Chr 19, 11211022: 11217240
279LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11211022: 11218067
280LDLRNC_000019.9duplicationLikely pathogenicGRCh37Chr 19, 11211022: 11218067
281LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11211022: 11221327
282LDLRNC_000019.9duplicationLikely pathogenicGRCh37Chr 19, 11211022: 11221327
283LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11211022: 11222189
284LDLRNC_000019.9duplicationLikely pathogenicGRCh37Chr 19, 11211022: 11223953
285LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11211022: 11226769
286LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11211022: 11230767
287LDLRNC_000019.9duplicationPathogenicGRCh37Chr 19, 11211022: 11230767
288LDLRNC_000019.9duplicationLikely pathogenicGRCh37Chr 19, 11211022: 11233849
289LDLRNM_000527.4(LDLR): c.191-1G> Asingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11102663: 11102663
290LDLRNM_000527.4(LDLR): c.193_201delTCTGTCACCinsGACTTCA (p.Ser65Aspfs)indelPathogenicGRCh37Chr 19, 11213342: 11213350
291LDLRNM_000527.4(LDLR): c.195_196insA (p.Val66Serfs)insertionPathogenicGRCh37Chr 19, 11213344: 11213345
292LDLRNM_000527.4(LDLR): c.195_196insAT (p.Val66Metfs)insertionPathogenicGRCh38Chr 19, 11102668: 11102669
293LDLRNM_000527.4(LDLR): c.195dupT (p.Val66Cysfs)duplicationPathogenicGRCh38Chr 19, 11102668: 11102668
294LDLRNM_000527.4(LDLR): c.199dupA (p.Thr67Asnfs)duplicationPathogenicGRCh37Chr 19, 11213348: 11213348
295LDLRNM_000527.4(LDLR): c.204C> A (p.Cys68Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11213353: 11213353
296LDLRNM_000527.4(LDLR): c.214delG (p.Asp72Thrfs)deletionPathogenicGRCh38Chr 19, 11102687: 11102687
297LDLRNM_000527.4(LDLR): c.223T> A (p.Cys75Ser)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11213372: 11213372
298LDLRNM_000527.4(LDLR): c.225T> G (p.Cys75Trp)single nucleotide variantLikely pathogenicrs758927662GRCh38Chr 19, 11102698: 11102698
299LDLRNM_000527.4(LDLR): c.230delG (p.Gly77Alafs)deletionPathogenicGRCh38Chr 19, 11102703: 11102703
300LDLRNM_000527.4(LDLR): c.230dupG (p.Arg78Profs)duplicationPathogenicGRCh37Chr 19, 11213379: 11213379
301LDLRNM_000527.4(LDLR): c.232delC (p.Arg78Valfs)deletionPathogenicGRCh38Chr 19, 11102705: 11102705
302LDLRNM_000527.4(LDLR): c.233G> A (p.Arg78His)single nucleotide variantLikely pathogenicrs146675823GRCh38Chr 19, 11102706: 11102706
303LDLRNM_000527.4(LDLR): c.236dupT (p.Asn80Glnfs)duplicationPathogenicGRCh37Chr 19, 11213385: 11213385
304LDLRNM_000527.4(LDLR): c.240C> A (p.Asn80Lys)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11213389: 11213389
305LDLRNM_000527.4(LDLR): c.241C> A (p.Arg81Ser)single nucleotide variantLikely pathogenicrs730882078GRCh38Chr 19, 11102714: 11102714
306LDLRNM_000527.4(LDLR): c.242dupG (p.Cys82Leufs)duplicationPathogenicGRCh37Chr 19, 11213391: 11213391
307LDLRNM_000527.4(LDLR): c.244delT (p.Cys82Alafs)deletionPathogenicGRCh38Chr 19, 11102717: 11102717
308LDLRNM_000527.4(LDLR): c.244T> G (p.Cys82Gly)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11213393: 11213393
309LDLRNM_000527.4(LDLR): c.245G> A (p.Cys82Tyr)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11213394: 11213394
310LDLRNM_000527.4(LDLR): c.245G> T (p.Cys82Phe)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11102718: 11102718
311LDLRNM_000527.4(LDLR): c.251C> G (p.Pro84Arg)single nucleotide variantLikely pathogenicrs875989892GRCh37Chr 19, 11213400: 11213400
312LDLRNM_000527.4(LDLR): c.257_265delTCTGGAGGT (p.Phe86_Arg88del)deletionLikely pathogenicGRCh38Chr 19, 11102730: 11102738
313LDLRNM_000527.4(LDLR): c.260G> A (p.Trp87Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11213409: 11213409
314LDLRNM_000527.4(LDLR): c.261_262delGAinsAG (p.Trp87Ter)indelPathogenicGRCh37Chr 19, 11213410: 11213411
315LDLRNM_000527.4(LDLR): c.261G> A (p.Trp87Ter)single nucleotide variantPathogenicrs199570811GRCh38Chr 19, 11102734: 11102734
316LDLRNM_000527.4(LDLR): c.265T> C (p.Cys89Arg)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11213414: 11213414
317LDLRNM_000527.4(LDLR): c.265T> G (p.Cys89Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11102738: 11102738
318LDLRNM_000527.4(LDLR): c.267C> G (p.Cys89Trp)single nucleotide variantLikely pathogenicrs777640882GRCh37Chr 19, 11213416: 11213416
319LDLRNM_000527.4(LDLR): c.268G> A (p.Asp90Asn)single nucleotide variantLikely pathogenicrs749038326GRCh38Chr 19, 11102741: 11102741
320LDLRNM_000527.4(LDLR): c.268G> T (p.Asp90Tyr)single nucleotide variantLikely pathogenicrs749038326GRCh37Chr 19, 11213417: 11213417
321LDLRNM_000527.4(LDLR): c.270T> A (p.Asp90Glu)single nucleotide variantLikely pathogenicrs372828849GRCh38Chr 19, 11102743: 11102743
322LDLRNM_000527.4(LDLR): c.280G> T (p.Asp94Tyr)single nucleotide variantLikely pathogenicrs745776977GRCh37Chr 19, 11213429: 11213429
323LDLRNM_000527.4(LDLR): c.283T> A (p.Cys95Ser)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11213432: 11213432
324LDLRNM_000527.4(LDLR): c.283T> C (p.Cys95Arg)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11213432: 11213432
325LDLRNM_000527.4(LDLR): c.283T> G (p.Cys95Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11102756: 11102756
326LDLRNM_000527.4(LDLR): c.284G> A (p.Cys95Tyr)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11213433: 11213433
327LDLRNM_000527.4(LDLR): c.284G> T (p.Cys95Phe)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11102757: 11102757
328LDLRNM_000527.4(LDLR): c.285C> A (p.Cys95Ter)single nucleotide variantPathogenicrs139400379GRCh38Chr 19, 11102758: 11102758
329LDLRNM_000527.4(LDLR): c.291C> G (p.Asn97Lys)single nucleotide variantLikely pathogenicrs372845091GRCh38Chr 19, 11102764: 11102764
330LDLRNM_000527.4(LDLR): c.292G> A (p.Gly98Ser)single nucleotide variantLikely pathogenicrs750474121GRCh37Chr 19, 11213441: 11213441
331LDLRNM_000527.4(LDLR): c.292G> C (p.Gly98Arg)single nucleotide variantLikely pathogenicrs750474121GRCh37Chr 19, 11213441: 11213441
332LDLRNM_000527.4(LDLR): c.296_297delCA (p.Ser99Terfs)deletionPathogenicGRCh38Chr 19, 11102769: 11102770
333LDLRNM_000527.4(LDLR): c.298G> A (p.Asp100Asn)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11213447: 11213447
334LDLRNM_000527.4(LDLR): c.299A> G (p.Asp100Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11102772: 11102772
335LDLRNM_000527.4(LDLR): c.301delG (p.Glu101Serfs)deletionPathogenicGRCh37Chr 19, 11213450: 11213450
336LDLRNM_000527.4(LDLR): c.301G> T (p.Glu101Ter)single nucleotide variantPathogenicrs144172724GRCh38Chr 19, 11102774: 11102774
337LDLRNM_000527.4(LDLR): c.303delG (p.Glu101Aspfs)deletionPathogenicrs764797225GRCh37Chr 19, 11213452: 11213452
338LDLRNM_000527.4(LDLR): c.310_313delTGTC (p.Cys104Profs)deletionPathogenicGRCh37Chr 19, 11213459: 11213462
339LDLRNM_000527.4(LDLR): c.310T> C (p.Cys104Arg)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11213459: 11213459
340LDLRNM_000527.4(LDLR): c.311G> T (p.Cys104Phe)single nucleotide variantLikely pathogenicrs875989895GRCh37Chr 19, 11213460: 11213460
341LDLRNM_000527.4(LDLR): c.312T> G (p.Cys104Trp)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11102785: 11102785
342LDLRNM_001195799.1(LDLR): c.191-2433_191-2432insGduplicationLikely pathogenicGRCh38Chr 19, 11102787: 11102787
343LDLRNM_000527.4(LDLR): c.313+1G> Tsingle nucleotide variantLikely pathogenicrs112029328GRCh38Chr 19, 11102787: 11102787
344LDLRNM_000527.4(LDLR): c.313+2T> Asingle nucleotide variantLikely pathogenicrs793888517GRCh37Chr 19, 11213464: 11213464
345LDLRNM_000527.4(LDLR): c.313+5G> Asingle nucleotide variantLikely pathogenicGRCh37Chr 19, 11213467: 11213467
346LDLRNM_000527.4(LDLR): c.313+5G> Tsingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11102791: 11102791
347LDLRNM_000527.4(LDLR): c.313+6T> Csingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11102792: 11102792
348LDLRNG_009060.1: g.20394_28512dup8119duplicationLikely pathogenic
349LDLRNM_000527.4(LDLR): c.314-2A> Csingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11105218: 11105218
350LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11213463: 11217240
351LDLRNC_000019.9duplicationLikely pathogenicGRCh37Chr 19, 11213463: 11218067
352LDLRNC_000019.9duplicationLikely pathogenicGRCh37Chr 19, 11213463: 11221327
353LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11213463: 11221327
354LDLRNC_000019.9duplicationLikely pathogenicGRCh37Chr 19, 11213463: 11223953
355LDLRNM_000527.4(LDLR): c.314-1G> Asingle nucleotide variantLikely pathogenicGRCh37Chr 19, 11215895: 11215895
356LDLRNM_000527.4(LDLR): c.316_336del21 (p.Pro106_Asp112del)deletionLikely pathogenicGRCh38Chr 19, 11105222: 11105242
357LDLRNM_000527.4(LDLR): c.318dupC (p.Lys107Glnfs)duplicationPathogenicGRCh38Chr 19, 11105224: 11105224
358LDLRNM_000527.4(LDLR): c.320_332delAGACGTGCTCCCA (p.Lys107Argfs)deletionPathogenicGRCh38Chr 19, 11105226: 11105238
359LDLRNM_000527.4(LDLR): c.320dupA (p.Thr108Aspfs)duplicationPathogenicGRCh37Chr 19, 11215902: 11215902
360LDLRNM_000527.4(LDLR): c.324_325delGTinsTC (p.Cys109Arg)indelLikely pathogenicGRCh37Chr 19, 11215906: 11215907
361LDLRNM_000527.4(LDLR): c.325_337delTGCTCCCAGGACG (p.Cys109Serfs)deletionPathogenicGRCh38Chr 19, 11105231: 11105243
362LDLRNM_000527.4(LDLR): c.325T> C (p.Cys109Arg)single nucleotide variantLikely pathogenicrs140807148GRCh38Chr 19, 11105231: 11105231
363LDLRNM_000527.4(LDLR): c.326G> T (p.Cys109Phe)single nucleotide variantLikely pathogenicrs121908042GRCh38Chr 19, 11105232: 11105232
364LDLRNM_000527.4(LDLR): c.327dupC (p.Ser110Leufs)duplicationPathogenicGRCh37Chr 19, 11215909: 11215909
365LDLRNM_000527.4(LDLR): c.335_344delACGAGTTTCG (p.Asp112Alafs)deletionPathogenicGRCh38Chr 19, 11105241: 11105250
366LDLRNM_000527.4(LDLR): c.338_353del16 (p.Glu113Valfs)deletionPathogenicGRCh38Chr 19, 11105244: 11105259
367LDLRNM_000527.4(LDLR): c.339dupG (p.Phe114Valfs)duplicationPathogenicGRCh38Chr 19, 11105245: 11105245
368LDLRNM_000527.4(LDLR): c.343C> T (p.Arg115Cys)single nucleotide variantLikely pathogenicrs774723292GRCh37Chr 19, 11215925: 11215925
369LDLRNM_000527.4(LDLR): c.346T> C (p.Cys116Arg)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105252: 11105252
370LDLRNM_000527.4(LDLR): c.347_349delGCC (p.Cys116_His117delinsTyr)deletionLikely pathogenicGRCh37Chr 19, 11215929: 11215931
371LDLRNM_000527.4(LDLR): c.347_367del21 (p.Cys116_Ile122del)deletionLikely pathogenicGRCh38Chr 19, 11105253: 11105273
372LDLRNM_000527.4(LDLR): c.347G> T (p.Cys116Phe)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105253: 11105253
373LDLRNM_000527.4(LDLR): c.350_372dup23 (p.Gln125Thrfs)duplicationPathogenicGRCh37Chr 19, 11215932: 11215954
374LDLRNM_000527.4(LDLR): c.353delA (p.Asp118Valfs)deletionPathogenicGRCh37Chr 19, 11215935: 11215935
375LDLRNM_000527.4(LDLR): c.354_356delTGG (p.Asp118_Gly119delinsGlu)deletionLikely pathogenicGRCh38Chr 19, 11105260: 11105262
376LDLRNM_000527.4(LDLR): c.356_362delGGAAGTG (p.Gly119Alafs)deletionPathogenicGRCh38Chr 19, 11105262: 11105268
377LDLRNM_000527.4(LDLR): c.357delG (p.Lys120Serfs)deletionPathogenicGRCh37Chr 19, 11215939: 11215939
378LDLRNM_000527.4(LDLR): c.361T> A (p.Cys121Ser)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105267: 11105267
379LDLRNM_000527.4(LDLR): c.361T> C (p.Cys121Arg)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105267: 11105267
380LDLRNM_000527.4(LDLR): c.361T> G (p.Cys121Gly)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11215943: 11215943
381LDLRNM_000527.4(LDLR): c.362G> C (p.Cys121Ser)single nucleotide variantLikely pathogenicrs193922571GRCh38Chr 19, 11105268: 11105268
382LDLRNM_000527.4(LDLR): c.362G> T (p.Cys121Phe)single nucleotide variantLikely pathogenicrs193922571GRCh38Chr 19, 11105268: 11105268
383LDLRNM_000527.4(LDLR): c.364A> T (p.Ile122Phe)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11215946: 11215946
384LDLRNM_000527.4(LDLR): c.366dupC (p.Ser123Leufs)duplicationPathogenicGRCh37Chr 19, 11215948: 11215948
385LDLRNM_000527.4(LDLR): c.369_370delTC (p.Arg124Alafs)deletionPathogenicGRCh38Chr 19, 11105275: 11105276
386LDLRNM_000527.4(LDLR): c.369_393del25 (p.Arg124Glyfs)deletionPathogenicGRCh38Chr 19, 11105275: 11105299
387LDLRNM_000527.4(LDLR): c.370C> T (p.Arg124Trp)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11215952: 11215952
388LDLRNM_000527.4(LDLR): c.371_372insC (p.Gln125Alafs)insertionPathogenicGRCh38Chr 19, 11105277: 11105278
389LDLRNM_000527.4(LDLR): c.373C> T (p.Gln125Ter)single nucleotide variantPathogenicrs875989899GRCh37Chr 19, 11215955: 11215955
390LDLRNM_000527.4(LDLR): c.374_375insCTGA (p.Gln125Hisfs)insertionPathogenicGRCh37Chr 19, 11215956: 11215957
391LDLRNM_000527.4(LDLR): c.376T> C (p.Phe126Leu)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11215958: 11215958
392LDLRNM_000527.4(LDLR): c.377T> A (p.Phe126Tyr)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11215959: 11215959
393LDLRNM_000527.4(LDLR): c.380T> A (p.Val127Asp)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105286: 11105286
394LDLRNM_000527.4(LDLR): c.382_385delTGTG (p.Cys128Thrfs)deletionPathogenicGRCh38Chr 19, 11105288: 11105291
395LDLRNM_000527.4(LDLR): c.382T> C (p.Cys128Arg)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105288: 11105288
396LDLRNM_000527.4(LDLR): c.383G> T (p.Cys128Phe)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11215965: 11215965
397LDLRNM_000527.4(LDLR): c.386A> G (p.Asp129Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105292: 11105292
398LDLRNM_000527.4(LDLR): c.389C> G (p.Ser130Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11215971: 11215971
399LDLRNM_000527.4(LDLR): c.389dupC (p.Asp131Argfs)duplicationPathogenicGRCh37Chr 19, 11215971: 11215971
400LDLRNM_000527.4(LDLR): c.391G> C (p.Asp131His)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11215973: 11215973
401LDLRNM_000527.4(LDLR): c.397dupG (p.Asp133Glyfs)duplicationPathogenicGRCh38Chr 19, 11105303: 11105303
402LDLRNM_000527.4(LDLR): c.397G> A (p.Asp133Asn)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105303: 11105303
403LDLRNM_000527.4(LDLR): c.401G> A (p.Cys134Tyr)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11215983: 11215983
404LDLRNM_000527.4(LDLR): c.401G> T (p.Cys134Phe)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11215983: 11215983
405LDLRNM_000527.4(LDLR): c.402C> G (p.Cys134Trp)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105308: 11105308
406LDLRNM_000527.4(LDLR): c.407A> T (p.Asp136Val)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11215989: 11215989
407LDLRNM_000527.4(LDLR): c.409G> T (p.Gly137Cys)single nucleotide variantLikely pathogenicrs730882082GRCh37Chr 19, 11215991: 11215991
408LDLRNM_000527.4(LDLR): c.413C> G (p.Ser138Ter)single nucleotide variantPathogenicrs755799528GRCh38Chr 19, 11105319: 11105319
409LDLRNM_000527.4(LDLR): c.415G> A (p.Asp139Asn)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105321: 11105321
410LDLRNM_000527.4(LDLR): c.415G> C (p.Asp139His)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105321: 11105321
411LDLRNM_000527.4(LDLR): c.416A> G (p.Asp139Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105322: 11105322
412LDLRNM_000527.4(LDLR): c.416A> T (p.Asp139Val)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105322: 11105322
413LDLRNM_000527.4(LDLR): c.418G> A (p.Glu140Lys)single nucleotide variantLikely pathogenicrs748944640GRCh37Chr 19, 11216000: 11216000
414LDLRNM_000527.4(LDLR): c.418G> T (p.Glu140Ter)single nucleotide variantPathogenicrs748944640GRCh38Chr 19, 11105324: 11105324
415LDLRNM_000527.4(LDLR): c.419A> G (p.Glu140Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105325: 11105325
416LDLRNM_000527.4(LDLR): c.420G> C (p.Glu140Asp)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105326: 11105326
417LDLRNM_000527.4(LDLR): c.420G> T (p.Glu140Asp)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216002: 11216002
418LDLRNM_000527.4(LDLR): c.424_430delTCCTGCC (p.Ser142Argfs)deletionPathogenicGRCh38Chr 19, 11105330: 11105336
419LDLRNM_000527.4(LDLR): c.427T> C (p.Cys143Arg)single nucleotide variantLikely pathogenicrs875989901GRCh37Chr 19, 11216009: 11216009
420LDLRNM_000527.4(LDLR): c.428G> A (p.Cys143Tyr)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105334: 11105334
421LDLRNM_000527.4(LDLR): c.431_434dupCGGT (p.Leu146Glyfs)duplicationPathogenicGRCh38Chr 19, 11105337: 11105340
422LDLRNM_000527.4(LDLR): c.440C> T (p.Thr147Ile)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105346: 11105346
423LDLRNM_000527.4(LDLR): c.442T> C (p.Cys148Arg)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216024: 11216024
424LDLRNM_000527.4(LDLR): c.443G> A (p.Cys148Tyr)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216025: 11216025
425LDLRNM_000527.4(LDLR): c.443G> C (p.Cys148Ser)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105349: 11105349
426LDLRNM_000527.4(LDLR): c.444T> G (p.Cys148Trp)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216026: 11216026
427LDLRNM_000527.4(LDLR): c.450dupC (p.Ala151Argfs)duplicationPathogenicGRCh38Chr 19, 11105356: 11105356
428LDLRNM_000527.4(LDLR): c.451_453delGCC (p.Ala151del)deletionLikely pathogenicGRCh38Chr 19, 11105357: 11105359
429LDLRNM_000527.4(LDLR): c.457T> G (p.Phe153Val)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105363: 11105363
430LDLRNM_000527.4(LDLR): c.458T> G (p.Phe153Cys)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105364: 11105364
431LDLRNM_000527.4(LDLR): c.460C> T (p.Gln154Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11216042: 11216042
432LDLRNM_000527.4(LDLR): c.463T> C (p.Cys155Arg)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105369: 11105369
433LDLRNM_000527.4(LDLR): c.463T> G (p.Cys155Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105369: 11105369
434LDLRNM_000527.4(LDLR): c.464G> A (p.Cys155Tyr)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216046: 11216046
435LDLRNM_000527.4(LDLR): c.464G> T (p.Cys155Phe)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105370: 11105370
436LDLRNM_000527.4(LDLR): c.465C> A (p.Cys155Ter)single nucleotide variantPathogenicrs766094434GRCh37Chr 19, 11216047: 11216047
437LDLRNM_000527.4(LDLR): c.466_484dup19 (p.Pro162Glnfs)duplicationPathogenicGRCh38Chr 19, 11105372: 11105390
438LDLRNM_000527.4(LDLR): c.472delT (p.Ser158Profs)deletionPathogenicGRCh38Chr 19, 11105378: 11105378
439LDLRNM_000527.4(LDLR): c.473C> G (p.Ser158Cys)single nucleotide variantLikely pathogenicrs763998635GRCh37Chr 19, 11216055: 11216055
440LDLRNM_000527.4(LDLR): c.478T> C (p.Cys160Arg)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105384: 11105384
441LDLRNM_000527.4(LDLR): c.478T> G (p.Cys160Gly)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216060: 11216060
442LDLRNM_000527.4(LDLR): c.479G> A (p.Cys160Tyr)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216061: 11216061
443LDLRNM_000527.4(LDLR): c.482_488delTCCCCCA (p.Ile161Serfs)deletionPathogenicGRCh38Chr 19, 11105388: 11105394
444LDLRNM_000527.4(LDLR): c.485C> T (p.Pro162Leu)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105391: 11105391
445LDLRNM_000527.4(LDLR): c.491T> C (p.Leu164Pro)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105397: 11105397
446LDLRNM_000527.4(LDLR): c.493T> G (p.Trp165Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105399: 11105399
447LDLRNM_000527.4(LDLR): c.495G> A (p.Trp165Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11216077: 11216077
448LDLRNM_000527.4(LDLR): c.499T> C (p.Cys167Arg)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216081: 11216081
449LDLRNM_000527.4(LDLR): c.500G> A (p.Cys167Tyr)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216082: 11216082
450LDLRNM_000527.4(LDLR): c.501C> G (p.Cys167Trp)single nucleotide variantLikely pathogenicrs752596535GRCh37Chr 19, 11216083: 11216083
451LDLRNM_000527.4(LDLR): c.502G> C (p.Asp168His)single nucleotide variantLikely pathogenicrs200727689GRCh37Chr 19, 11216084: 11216084
452LDLRNM_000527.4(LDLR): c.502G> T (p.Asp168Tyr)single nucleotide variantLikely pathogenicrs200727689GRCh38Chr 19, 11105408: 11105408
453LDLRNM_000527.4(LDLR): c.503A> G (p.Asp168Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105409: 11105409
454LDLRNM_000527.4(LDLR): c.504C> A (p.Asp168Glu)single nucleotide variantLikely pathogenicrs777321035GRCh38Chr 19, 11105410: 11105410
455LDLRNM_000527.4(LDLR): c.506A> T (p.Asn169Ile)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216088: 11216088
456LDLRNM_000527.4(LDLR): c.508_509insC (p.Asp170Alafs)insertionPathogenicGRCh38Chr 19, 11105414: 11105415
457LDLRNM_000527.4(LDLR): c.513delC (p.Asp172Thrfs)deletionPathogenicGRCh37Chr 19, 11216095: 11216095
458LDLRNM_000527.4(LDLR): c.513dupC (p.Asp172Argfs)duplicationPathogenicGRCh37Chr 19, 11216095: 11216095
459LDLRNM_000527.4(LDLR): c.514G> A (p.Asp172Asn)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216096: 11216096
460LDLRNM_000527.4(LDLR): c.514G> C (p.Asp172His)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105420: 11105420
461LDLRNM_000527.4(LDLR): c.514G> T (p.Asp172Tyr)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216096: 11216096
462LDLRNM_000527.4(LDLR): c.515A> G (p.Asp172Gly)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216097: 11216097
463LDLRNM_000527.4(LDLR): c.516_524dupCTGCGAAGA (p.Asp175_Gly176insCysGluAsp)duplicationLikely pathogenicGRCh38Chr 19, 11105422: 11105430
464LDLRNM_000527.4(LDLR): c.516C> G (p.Asp172Glu)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216098: 11216098
465LDLRNM_000527.4(LDLR): c.517T> C (p.Cys173Arg)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216099: 11216099
466LDLRNM_000527.4(LDLR): c.517T> G (p.Cys173Gly)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216099: 11216099
467LDLRNM_000527.4(LDLR): c.518delG (p.Cys173Serfs)deletionPathogenicGRCh37Chr 19, 11216100: 11216100
468LDLRNM_000527.4(LDLR): c.518G> A (p.Cys173Tyr)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216100: 11216100
469LDLRNM_000527.4(LDLR): c.519C> A (p.Cys173Ter)single nucleotide variantPathogenicrs769318035GRCh38Chr 19, 11105425: 11105425
470LDLRNM_000527.4(LDLR): c.519C> G (p.Cys173Trp)single nucleotide variantLikely pathogenicrs769318035GRCh37Chr 19, 11216101: 11216101
471LDLRNM_000527.4(LDLR): c.523G> T (p.Asp175Tyr)single nucleotide variantLikely pathogenicrs121908033GRCh37Chr 19, 11216105: 11216105
472LDLRNM_000527.4(LDLR): c.525_536delTGGCTCGGATGA (p.Asp175_Asp178del)deletionLikely pathogenicGRCh38Chr 19, 11105431: 11105442
473LDLRNM_000527.4(LDLR): c.526_533dupGGCTCGGA (p.Asp178Glufs)duplicationPathogenicGRCh38Chr 19, 11105432: 11105439
474LDLRNM_000527.4(LDLR): c.527G> T (p.Gly176Val)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216109: 11216109
475LDLRNM_000527.4(LDLR): c.532_533insT (p.Asp178Valfs)insertionPathogenicGRCh38Chr 19, 11105438: 11105439
476LDLRNM_000527.4(LDLR): c.532G> A (p.Asp178Asn)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216114: 11216114
477LDLRNM_000527.4(LDLR): c.532G> C (p.Asp178His)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216114: 11216114
478LDLRNM_000527.4(LDLR): c.532G> T (p.Asp178Tyr)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216114: 11216114
479LDLRNM_000527.4(LDLR): c.533A> G (p.Asp178Gly)single nucleotide variantLikely pathogenicrs875989902GRCh37Chr 19, 11216115: 11216115
480LDLRNM_000527.4(LDLR): c.534T> G (p.Asp178Glu)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105440: 11105440
481LDLRNM_000527.4(LDLR): c.535G> A (p.Glu179Lys)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216117: 11216117
482LDLRNM_000527.4(LDLR): c.535G> T (p.Glu179Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11216117: 11216117
483LDLRNM_000527.4(LDLR): c.536A> G (p.Glu179Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105442: 11105442
484LDLRNM_000527.4(LDLR): c.539G> A (p.Trp180Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11105445: 11105445
485LDLRNM_000527.4(LDLR): c.544C> T (p.Gln182Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11105450: 11105450
486LDLRNM_000527.4(LDLR): c.552T> G (p.Cys184Trp)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216134: 11216134
487LDLRNM_000527.4(LDLR): c.550T> C (p.Cys184Arg)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216132: 11216132
488LDLRNM_000527.4(LDLR): c.557delG (p.Gly186Valfs)deletionPathogenicGRCh38Chr 19, 11105463: 11105463
489LDLRNM_000527.4(LDLR): c.558_559insG (p.Leu187Alafs)insertionPathogenicGRCh37Chr 19, 11216140: 11216141
490LDLRNM_000527.4(LDLR): c.561_562delTT (p.Tyr188Argfs)deletionPathogenicGRCh38Chr 19, 11105467: 11105468
491LDLRNM_000527.4(LDLR): c.562delT (p.Tyr188Thrfs)deletionPathogenicGRCh38Chr 19, 11105468: 11105468
492LDLRNM_000527.4(LDLR): c.564C> A (p.Tyr188Ter)single nucleotide variantPathogenicrs121908034GRCh38Chr 19, 11105470: 11105470
493LDLRNM_000527.4(LDLR): c.568_590del23 (p.Phe190Leufs)deletionPathogenicGRCh38Chr 19, 11105474: 11105496
494LDLRNM_000527.4(LDLR): c.571C> T (p.Gln191Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11105477: 11105477
495LDLRNM_000527.4(LDLR): c.578_584delACAGTAG (p.Asp193Alafs)deletionPathogenicGRCh38Chr 19, 11105484: 11105490
496LDLRNM_000527.4(LDLR): c.578delA (p.Asp193Alafs)deletionPathogenicGRCh37Chr 19, 11216160: 11216160
497LDLRNM_000527.4(LDLR): c.581_582insA (p.Ser194Argfs)insertionPathogenicGRCh38Chr 19, 11105487: 11105488
498LDLRNM_000527.4(LDLR): c.583_589delAGCCCCT (p.Ser195Alafs)deletionPathogenicGRCh38Chr 19, 11105489: 11105495
499LDLRNM_000527.4(LDLR): c.589T> G (p.Cys197Gly)single nucleotide variantLikely pathogenicrs730882085GRCh38Chr 19, 11105495: 11105495
500LDLRNM_000527.4(LDLR): c.590G> T (p.Cys197Phe)single nucleotide variantLikely pathogenicrs376459828GRCh38Chr 19, 11105496: 11105496
501LDLRNM_000527.4(LDLR): c.591C> A (p.Cys197Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11216173: 11216173
502LDLRNM_000527.4(LDLR): c.591C> G (p.Cys197Trp)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216173: 11216173
503LDLRNM_000527.4(LDLR): c.593C> A (p.Ser198Ter)single nucleotide variantPathogenicrs748672083GRCh37Chr 19, 11216175: 11216175
504LDLRNM_000527.4(LDLR): c.600delC (p.Phe200Leufs)deletionPathogenicGRCh37Chr 19, 11216182: 11216182
505LDLRNM_000527.4(LDLR): c.601G> A (p.Glu201Lys)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216183: 11216183
506LDLRNM_000527.4(LDLR): c.605T> C (p.Phe202Ser)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216187: 11216187
507LDLRNM_000527.4(LDLR): c.609delC (p.Cys204Alafs)deletionPathogenicGRCh38Chr 19, 11105515: 11105515
508LDLRNM_000527.4(LDLR): c.611G> A (p.Cys204Tyr)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216193: 11216193
509LDLRNM_000527.4(LDLR): c.611G> C (p.Cys204Ser)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216193: 11216193
510LDLRNM_000527.4(LDLR): c.611G> T (p.Cys204Phe)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216193: 11216193
511LDLRNM_000527.4(LDLR): c.616dupA (p.Ser206Lysfs)duplicationPathogenicGRCh37Chr 19, 11216198: 11216198
512LDLRNM_000527.4(LDLR): c.617delG (p.Ser206Metfs)deletionPathogenicGRCh38Chr 19, 11105523: 11105523
513LDLRNM_000527.4(LDLR): c.618T> G (p.Ser206Arg)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216200: 11216200
514LDLRNM_000527.4(LDLR): c.619_639del21 (p.Gly207_Ser213del)deletionLikely pathogenicGRCh38Chr 19, 11105525: 11105545
515LDLRNM_000527.4(LDLR): c.622G> A (p.Glu208Lys)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216204: 11216204
516LDLRNM_000527.4(LDLR): c.622G> T (p.Glu208Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11216204: 11216204
517LDLRNM_000527.4(LDLR): c.623_644del22 (p.Glu208Alafs)deletionPathogenicGRCh37Chr 19, 11216205: 11216226
518LDLRNM_000527.4(LDLR): c.625_626dupTG (p.Ile210Alafs)duplicationPathogenicGRCh37Chr 19, 11216207: 11216208
519LDLRNM_000527.4(LDLR): c.626G> A (p.Cys209Tyr)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105532: 11105532
520LDLRNM_000527.4(LDLR): c.629T> A (p.Ile210Asn)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216211: 11216211
521LDLRNM_000527.4(LDLR): c.631C> T (p.His211Tyr)single nucleotide variantLikely pathogenicrs771917370GRCh37Chr 19, 11216213: 11216213
522LDLRNM_000527.4(LDLR): c.632_634delACT (p.His211_Ser212delinsPro)deletionLikely pathogenicGRCh37Chr 19, 11216214: 11216216
523LDLRNM_000527.4(LDLR): c.632A> T (p.His211Leu)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216214: 11216214
524LDLRNM_000527.4(LDLR): c.641G> C (p.Trp214Ser)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216223: 11216223
525LDLRNM_000527.4(LDLR): c.642G> A (p.Trp214Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11216224: 11216224
526LDLRNM_000527.4(LDLR): c.643_644insATCCACTCAGCTGGC (p.Trp214_Arg215insHisProLeuSerTrp)insertionLikely pathogenicGRCh38Chr 19, 11105549: 11105550
527LDLRNM_000527.4(LDLR): c.643C> A (p.Arg215Ser)single nucleotide variantLikely pathogenicrs764042910GRCh38Chr 19, 11105549: 11105549
528LDLRNM_000527.4(LDLR): c.645_646delCT (p.Cys216Terfs)deletionPathogenicGRCh38Chr 19, 11105551: 11105552
529LDLRNM_000527.4(LDLR): c.646delT (p.Cys216Valfs)deletionPathogenicGRCh37Chr 19, 11216228: 11216228
530LDLRNM_000527.4(LDLR): c.646T> C (p.Cys216Arg)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105552: 11105552
531LDLRNM_000527.4(LDLR): c.647G> A (p.Cys216Tyr)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216229: 11216229
532LDLRNM_000527.4(LDLR): c.647G> T (p.Cys216Phe)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216229: 11216229
533LDLRNM_000527.4(LDLR): c.648_649delTG (p.Cys216Terfs)deletionPathogenicGRCh38Chr 19, 11105554: 11105555
534LDLRNM_000527.4(LDLR): c.648_656delTGATGGTGG (p.Asp217_Gly219del)deletionLikely pathogenicGRCh38Chr 19, 11105554: 11105562
535LDLRNM_000527.4(LDLR): c.649_650insT (p.Asp217Valfs)insertionPathogenicGRCh37Chr 19, 11216231: 11216232
536LDLRNM_000527.4(LDLR): c.651_687del37 (p.Asp217Glufs)deletionPathogenicGRCh38Chr 19, 11105557: 11105593
537LDLRNM_000527.4(LDLR): c.655_657delGGC (p.Gly219del)deletionLikely pathogenicGRCh38Chr 19, 11105561: 11105563
538LDLRNM_000527.4(LDLR): c.656_661delGCCCCG (p.Gly219_Pro220del)deletionLikely pathogenicGRCh38Chr 19, 11105562: 11105567
539LDLRNM_000527.4(LDLR): c.661_673dupGACTGCAAGGACA (p.Lys225Argfs)duplicationPathogenicGRCh38Chr 19, 11105567: 11105579
540LDLRNM_000527.4(LDLR): c.661_677del17 (p.Asp221Terfs)deletionPathogenicGRCh38Chr 19, 11105567: 11105583
541LDLRNM_000527.4(LDLR): c.661G> T (p.Asp221Tyr)single nucleotide variantLikely pathogenicrs875989906GRCh38Chr 19, 11105567: 11105567
542LDLRNM_000527.4(LDLR): c.662A> T (p.Asp221Val)single nucleotide variantLikely pathogenicrs373822756GRCh38Chr 19, 11105568: 11105568
543LDLRNM_000527.4(LDLR)duplicationLikely pathogenicGRCh38Chr 19, 11105569: 11105589
544LDLRNM_000527.4(LDLR): c.657_661dupCCCCG (p.Asp221Alafs)duplicationPathogenicGRCh38Chr 19, 11105563: 11105567
545LDLRNM_000527.4(LDLR): c.664_681del18insCCGACTG (p.Cys222Profs)indelPathogenicGRCh37Chr 19, 11216246: 11216263
546LDLRNM_000527.4(LDLR): c.664T> G (p.Cys222Gly)single nucleotide variantLikely pathogenicrs577934998GRCh38Chr 19, 11105570: 11105570
547LDLRNM_000527.4(LDLR): c.665G> T (p.Cys222Phe)single nucleotide variantLikely pathogenicrs730882086GRCh38Chr 19, 11105571: 11105571
548LDLRNM_000527.4(LDLR): c.666_687del22 (p.Cys222Terfs)deletionPathogenicGRCh37Chr 19, 11216248: 11216269
549LDLRNM_000527.4(LDLR): c.666C> A (p.Cys222Ter)single nucleotide variantPathogenicrs756613387GRCh37Chr 19, 11216248: 11216248
550LDLRNM_000527.4(LDLR): c.666C> G (p.Cys222Trp)single nucleotide variantLikely pathogenicrs756613387GRCh37Chr 19, 11216248: 11216248
551LDLRNM_000527.4(LDLR): c.667_693del27 (p.Lys223_Cys231del)deletionLikely pathogenicGRCh38Chr 19, 11105573: 11105599
552LDLRNM_000527.4(LDLR): c.668_681dupAGGACAAATCTGAC (p.Glu228Argfs)duplicationPathogenicrs387906306GRCh38Chr 19, 11105574: 11105587
553LDLRNM_000527.4(LDLR): c.669_679dupGGACAAATCTG (p.Asp227Glyfs)duplicationPathogenicGRCh37Chr 19, 11216251: 11216261
554LDLRNM_000527.4(LDLR): c.669_680dupGGACAAATCTGA (p.Ser226_Asp227insGluAspLysSer)duplicationLikely pathogenicGRCh38Chr 19, 11105575: 11105586
555LDLRNM_000527.4(LDLR): c.669G> C (p.Lys223Asn)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105575: 11105575
556LDLRNM_000527.4(LDLR): c.670_675delGACAAAinsTTT (p.Asp224_Lys225delinsPhe)indelLikely pathogenicGRCh38Chr 19, 11105576: 11105581
557LDLRNM_000527.4(LDLR): c.670dupG (p.Asp224Glyfs)duplicationPathogenicGRCh38Chr 19, 11105576: 11105576
558LDLRNM_000527.4(LDLR): c.671A> C (p.Asp224Ala)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216253: 11216253
559LDLRNM_000527.4(LDLR): c.671A> G (p.Asp224Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105577: 11105577
560LDLRNM_000527.4(LDLR): c.671A> T (p.Asp224Val)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105577: 11105577
561LDLRNM_000527.4(LDLR): c.672_683dupCAAATCTGACGA (p.Asp227_Glu228insAspLysSerAsp)duplicationLikely pathogenicGRCh37Chr 19, 11216254: 11216265
562LDLRNM_000527.4(LDLR): c.673_681dupAAATCTGAC (p.Asp227_Glu228insLysSerAsp)duplicationLikely pathogenicrs387906306GRCh37Chr 19, 11216255: 11216263
563LDLRNM_000527.4(LDLR): c.673_682delAAATCTGACGinsTGCAA (p.Lys225Cysfs)indelPathogenicGRCh38Chr 19, 11105579: 11105588
564LDLRNM_000527.4(LDLR): c.674_681dupAATCTGAC (p.Glu228Asnfs)duplicationPathogenicrs387906306GRCh38Chr 19, 11105580: 11105587
565LDLRNM_000527.4(LDLR): c.675_681dupATCTGAC (p.Glu228Ilefs)duplicationPathogenicrs387906306GRCh38Chr 19, 11105581: 11105587
566LDLRNM_000527.4(LDLR): c.675_689delATCTGACGAGGAAAA (p.Lys225_Glu229del)deletionLikely pathogenicGRCh38Chr 19, 11105581: 11105595
567LDLRNM_000527.4(LDLR): c.675delA (p.Lys225Asnfs)deletionPathogenicGRCh38Chr 19, 11105581: 11105581
568LDLRNM_000527.4(LDLR): c.676_684dupTCTGACGAG (p.Glu228_Glu229insSerAspGlu)duplicationLikely pathogenicGRCh38Chr 19, 11105582: 11105590
569LDLRNM_000527.4(LDLR): c.676T> C (p.Ser226Pro)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105582: 11105582
570LDLRNM_000527.4(LDLR): c.677C> G (p.Ser226Cys)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105583: 11105583
571LDLRNM_000527.4(LDLR): c.680_681ins(21)insertionLikely pathogenicGRCh38Chr 19, 11105586: 11105587
572LDLRNM_000527.4(LDLR): c.680_682delACGins14 (p.?)indelPathogenicGRCh38Chr 19, 11105586: 11105588
573LDLRNM_000527.4(LDLR): c.680A> T (p.Asp227Val)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216262: 11216262
574LDLRNM_000527.4(LDLR): c.681_682insTGAG (p.Glu228Terfs)insertionPathogenicrs387906306GRCh37Chr 19, 11216263: 11216264
575LDLRNM_000527.4(LDLR): c.681_683delCGA (p.Asp227del)deletionLikely pathogenicGRCh38Chr 19, 11105587: 11105589
576LDLRNM_000527.4(LDLR): c.682delG (p.Glu228Argfs)deletionPathogenicGRCh37Chr 19, 11216264: 11216264
577LDLRNM_000527.4(LDLR): c.682delGinsTGCA (p.Glu228delinsCysLys)indelLikely pathogenicGRCh38Chr 19, 11105588: 11105588
578LDLRNM_000527.4(LDLR): c.682G> C (p.Glu228Gln)single nucleotide variantLikely pathogenicrs121908029GRCh37Chr 19, 11216264: 11216264
579LDLRNM_000527.4(LDLR): c.683A> C (p.Glu228Ala)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11216265: 11216265
580LDLRNM_000527.4(LDLR): c.691T> C (p.Cys231Arg)single nucleotide variantLikely pathogenicrs746091400GRCh37Chr 19, 11216273: 11216273
581LDLRNM_000527.4(LDLR): c.691T> G (p.Cys231Gly)single nucleotide variantLikely pathogenicrs746091400GRCh37Chr 19, 11216273: 11216273
582LDLRNM_000527.4(LDLR): c.692G> A (p.Cys231Tyr)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11105598: 11105598
583LDLRNM_000527.4(LDLR): c.693_694+20del22deletionPathogenicGRCh38Chr 19, 11105599: 11105620
584LDLRNM_000527.4(LDLR): c.693C> G (p.Cys231Trp)single nucleotide variantLikely pathogenicrs121908035GRCh38Chr 19, 11105599: 11105599
585LDLRNM_001195800.1(LDLR): c.314-1792_314-827deldeletionPathogenic
586LDLRNM_000527.4(LDLR): c.694+1G> Asingle nucleotide variantLikely pathogenicGRCh37Chr 19, 11216277: 11216277
587LDLRNM_000527.4(LDLR): c.694+1G> Tsingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11105601: 11105601
588LDLRNM_000527.4(LDLR): c.694+4dupTduplicationLikely pathogenicGRCh37Chr 19, 11216280: 11216280
589LDLRNG_009060.1: g.21829_24193del2365deletionPathogenic
590LDLRNG_009060.1: g.22118_29753del7636deletionPathogenic
591LDLRNM_000527.4(LDLR): c.695-6_698delTTCCAGCTGTdeletionPathogenicGRCh38Chr 19, 11106559: 11106568
592LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11216277: 11218067
593LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11216277: 11221327
594LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11216277: 11226769
595LDLRNM_000527.4(LDLR): c.695-1G> Tsingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11106564: 11106564
596LDLRNM_000527.4(LDLR): c.703dupA (p.Thr235Asnfs)duplicationPathogenicGRCh37Chr 19, 11217249: 11217249
597LDLRNM_000527.4(LDLR): c.705_791del87 (p.Cys236_Met264del)deletionLikely pathogenic
598LDLRNM_000527.4(LDLR): c.705dupC (p.Cys236Leufs)duplicationPathogenicGRCh38Chr 19, 11106575: 11106575
599LDLRNM_000527.4(LDLR): c.706T> C (p.Cys236Arg)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11106576: 11106576
600LDLRNM_000527.4(LDLR): c.708dupT (p.Arg237Serfs)duplicationPathogenicGRCh38Chr 19, 11106578: 11106578
601LDLRNM_000527.4(LDLR): c.709C> T (p.Arg237Cys)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11106579: 11106579
602LDLRNM_000527.4(LDLR): c.718G> T (p.Glu240Ter)single nucleotide variantPathogenicrs768563000GRCh37Chr 19, 11217264: 11217264
603LDLRNM_000527.4(LDLR): c.722T> C (p.Phe241Ser)single nucleotide variantLikely pathogenicrs748131256GRCh38Chr 19, 11106592: 11106592
604LDLRNM_000527.4(LDLR): c.724C> T (p.Gln242Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11106594: 11106594
605LDLRNM_000527.4(LDLR): c.727T> C (p.Cys243Arg)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11106597: 11106597
606LDLRNM_000527.4(LDLR): c.737delG (p.Gly246Glufs)deletionPathogenicGRCh38Chr 19, 11106607: 11106607
607LDLRNM_000527.4(LDLR): c.737G> A (p.Gly246Glu)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11106607: 11106607
608LDLRNM_000527.4(LDLR): c.742T> G (p.Cys248Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11106612: 11106612
609LDLRNM_000527.4(LDLR): c.743G> A (p.Cys248Tyr)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11217289: 11217289
610LDLRNM_000527.4(LDLR): c.743G> T (p.Cys248Phe)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11217289: 11217289
611LDLRNM_000527.4(LDLR): c.744C> A (p.Cys248Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11217290: 11217290
612LDLRNM_000527.4(LDLR): c.746T> C (p.Ile249Thr)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11106616: 11106616
613LDLRNM_000527.4(LDLR): c.752dupG (p.Ser252Glnfs)duplicationPathogenicGRCh37Chr 19, 11217298: 11217298
614LDLRNM_000527.4(LDLR): c.758G> C (p.Arg253Pro)single nucleotide variantLikely pathogenicrs139507589GRCh38Chr 19, 11106628: 11106628
615LDLRNM_000527.4(LDLR): c.760C> T (p.Gln254Ter)single nucleotide variantPathogenicrs759109699GRCh38Chr 19, 11106630: 11106630
616LDLRNM_000527.4(LDLR): c.761A> C (p.Gln254Pro)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11106631: 11106631
617LDLRNM_000527.4(LDLR): c.762_763invGT (p.Cys255Terfs)inversionLikely pathogenic
618LDLRNM_000527.4(LDLR): c.762G> T (p.Gln254His)single nucleotide variantLikely pathogenicrs764526789GRCh37Chr 19, 11217308: 11217308
619LDLRNM_000527.4(LDLR): c.763T> A (p.Cys255Ser)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11106633: 11106633
620LDLRNM_000527.4(LDLR): c.763T> C (p.Cys255Arg)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11217309: 11217309
621LDLRNM_000527.4(LDLR): c.763T> G (p.Cys255Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11106633: 11106633
622LDLRNM_000527.4(LDLR): c.764G> A (p.Cys255Tyr)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11217310: 11217310
623LDLRNM_000527.4(LDLR): c.767A> G (p.Asp256Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11106637: 11106637
624LDLRNM_000527.4(LDLR): c.768C> G (p.Asp256Glu)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11106638: 11106638
625LDLRNM_000527.4(LDLR): c.772G> T (p.Glu258Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11106642: 11106642
626LDLRNM_000527.4(LDLR): c.776_777delAT (p.Tyr259Terfs)deletionPathogenicGRCh38Chr 19, 11106646: 11106647
627LDLRNM_000527.4(LDLR): c.781delT (p.Cys261Alafs)deletionPathogenicGRCh37Chr 19, 11217327: 11217327
628LDLRNM_000527.4(LDLR): c.790_793delATGA (p.Met264Alafs)deletionPathogenicGRCh38Chr 19, 11106660: 11106663
629LDLRNM_000527.4(LDLR): c.793A> T (p.Ser265Cys)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11106663: 11106663
630LDLRNM_000527.4(LDLR): c.796_799delGATG (p.Asp266Lysfs)deletionPathogenicGRCh38Chr 19, 11106666: 11106669
631LDLRNM_000527.4(LDLR): c.796G> T (p.Asp266Tyr)single nucleotide variantLikely pathogenicrs875989907GRCh38Chr 19, 11106666: 11106666
632LDLRNM_000527.4(LDLR): c.797A> G (p.Asp266Gly)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11217343: 11217343
633LDLRNM_000527.4(LDLR): c.797A> T (p.Asp266Val)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11217343: 11217343
634LDLRNM_000527.4(LDLR): c.799G> A (p.Glu267Lys)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11106669: 11106669
635LDLRNM_000527.4(LDLR): c.800A> C (p.Glu267Ala)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11106670: 11106670
636LDLRNM_000527.4(LDLR): c.801A> T (p.Glu267Asp)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11217347: 11217347
637LDLRNM_000527.4(LDLR): c.808T> A (p.Cys270Ser)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11217354: 11217354
638LDLRNM_000527.4(LDLR): c.808T> C (p.Cys270Arg)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11106678: 11106678
639LDLRNM_000527.4(LDLR): c.809G> A (p.Cys270Tyr)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11106679: 11106679
640LDLRNM_000527.4(LDLR): c.810C> A (p.Cys270Ter)single nucleotide variantPathogenicrs773328511GRCh38Chr 19, 11106680: 11106680
641LDLRNM_000527.4(LDLR): c.814_817delAATG (p.Asn272Terfs)deletionPathogenicGRCh38Chr 19, 11106684: 11106687
642LDLRNM_000527.4(LDLR): c.817+1G> Asingle nucleotide variantLikely pathogenicGRCh37Chr 19, 11217364: 11217364
643LDLRNM_000527.4(LDLR): c.817+2T> Csingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11106689: 11106689
644LDLRNM_000527.4(LDLR): c.818-2A> Gsingle nucleotide variantPathogenicGRCh38Chr 19, 11107390: 11107390
645LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11217364: 11221327
646LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11217364: 11223953
647LDLRNC_000019.9: g.(11217364_11218067)_(11244506_?)deldeletionPathogenicGRCh37Chr 19, 11217364: 11244506
648LDLRNM_000527.4(LDLR): c.818-1G> Asingle nucleotide variantLikely pathogenicGRCh37Chr 19, 11218067: 11218067
649LDLRNM_000527.4(LDLR): c.820_827delACACTCTG (p.Thr274Argfs)deletionPathogenicGRCh38Chr 19, 11107394: 11107401
650LDLRNM_000527.4(LDLR): c.825_826delCT (p.Cys276Argfs)deletionPathogenicGRCh38Chr 19, 11107399: 11107400
651LDLRNM_000527.4(LDLR): c.826T> C (p.Cys276Arg)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11218076: 11218076
652LDLRNM_000527.4(LDLR): c.826T> G (p.Cys276Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11107400: 11107400
653LDLRNM_000527.4(LDLR): c.827G> A (p.Cys276Tyr)single nucleotide variantLikely pathogenicrs730882089GRCh37Chr 19, 11218077: 11218077
654LDLRNM_000527.4(LDLR): c.828C> G (p.Cys276Trp)single nucleotide variantLikely pathogenicrs146651743GRCh38Chr 19, 11107402: 11107402
655LDLRNM_000527.4(LDLR): c.850T> C (p.Cys284Arg)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11107424: 11107424
656LDLRNM_000527.4(LDLR): c.850T> G (p.Cys284Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11107424: 11107424
657LDLRNM_000527.4(LDLR): c.858C> A (p.Ser286Arg)single nucleotide variantLikely pathogenicrs140241383GRCh38Chr 19, 11107432: 11107432
658LDLRNM_000527.4(LDLR): c.859G> T (p.Gly287Cys)single nucleotide variantLikely pathogenicrs375495026GRCh38Chr 19, 11107433: 11107433
659LDLRNM_000527.4(LDLR): c.862G> T (p.Glu288Ter)single nucleotide variantPathogenicrs368657165GRCh37Chr 19, 11218112: 11218112
660LDLRNM_000527.4(LDLR): c.865delT (p.Cys289Alafs)deletionPathogenicGRCh38Chr 19, 11107439: 11107439
661LDLRNM_000527.4(LDLR): c.865T> C (p.Cys289Arg)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11218115: 11218115
662LDLRNM_000527.4(LDLR): c.869T> G (p.Ile290Ser)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11107443: 11107443
663LDLRNM_000527.4(LDLR): c.874delC (p.Leu292Trpfs)deletionPathogenicGRCh37Chr 19, 11218124: 11218124
664LDLRNM_000527.4(LDLR): c.875dupT (p.Asp293Glyfs)duplicationPathogenicGRCh37Chr 19, 11218125: 11218125
665LDLRNM_000527.4(LDLR): c.877delG (p.Asp293Thrfs)deletionPathogenicGRCh37Chr 19, 11218127: 11218127
666LDLRNM_000527.4(LDLR): c.880A> G (p.Lys294Glu)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11218130: 11218130
667LDLRNM_000527.4(LDLR): c.881_882delAA (p.Lys294Serfs)deletionPathogenicGRCh38Chr 19, 11107455: 11107456
668LDLRNM_000527.4(LDLR): c.884delT (p.Val295Alafs)deletionPathogenicGRCh37Chr 19, 11218134: 11218134
669LDLRNM_000527.4(LDLR): c.887_889delGCAinsAGC (p.Cys296Ter)indelPathogenicGRCh37Chr 19, 11218137: 11218139
670LDLRNM_000527.4(LDLR): c.887G> A (p.Cys296Tyr)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11107461: 11107461
671LDLRNM_000527.4(LDLR): c.887G> C (p.Cys296Ser)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11218137: 11218137
672LDLRNM_000527.4(LDLR): c.888C> A (p.Cys296Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11218138: 11218138
673LDLRNM_000527.4(LDLR): c.890delA (p.Asn297Thrfs)deletionPathogenicGRCh37Chr 19, 11218140: 11218140
674LDLRNM_000527.4(LDLR): c.895G> A (p.Ala299Thr)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11107469: 11107469
675LDLRNM_000527.4(LDLR): c.896delC (p.Ala299Valfs)deletionPathogenicGRCh37Chr 19, 11218146: 11218146
676LDLRNM_000527.4(LDLR): c.898A> T (p.Arg300Ter)single nucleotide variantPathogenicrs767618089GRCh37Chr 19, 11218148: 11218148
677LDLRNM_000527.4(LDLR): c.901G> T (p.Asp301Tyr)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11218151: 11218151
678LDLRNM_000527.4(LDLR): c.902A> C (p.Asp301Ala)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11218152: 11218152
679LDLRNM_000527.4(LDLR): c.902A> G (p.Asp301Gly)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11218152: 11218152
680LDLRNM_000527.4(LDLR): c.905G> A (p.Cys302Tyr)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11107479: 11107479
681LDLRNM_000527.4(LDLR): c.906C> G (p.Cys302Trp)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11218156: 11218156
682LDLRNM_000527.4(LDLR): c.910G> T (p.Asp304Tyr)single nucleotide variantLikely pathogenicrs121908030GRCh37Chr 19, 11218160: 11218160
683LDLRNM_000527.4(LDLR): c.914G> A (p.Trp305Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11218164: 11218164
684LDLRNM_000527.4(LDLR): c.915G> A (p.Trp305Ter)single nucleotide variantPathogenicrs757252110GRCh37Chr 19, 11218165: 11218165
685LDLRNM_000527.4(LDLR): c.915G> C (p.Trp305Cys)single nucleotide variantLikely pathogenicrs757252110GRCh37Chr 19, 11218165: 11218165
686LDLRNM_000527.4(LDLR): c.916_919dupTCAG (p.Asp307Valfs)duplicationPathogenicGRCh38Chr 19, 11107490: 11107493
687LDLRNM_000527.4(LDLR): c.917C> A (p.Ser306Ter)single nucleotide variantPathogenicrs11547917GRCh38Chr 19, 11107491: 11107491
688LDLRNM_000527.4(LDLR): c.917C> G (p.Ser306Ter)single nucleotide variantPathogenicrs11547917GRCh37Chr 19, 11218167: 11218167
689LDLRNM_000527.4(LDLR): c.919G> A (p.Asp307Asn)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11107493: 11107493
690LDLRNM_000527.4(LDLR): c.919G> C (p.Asp307His)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11107493: 11107493
691LDLRNM_000527.4(LDLR): c.921T> G (p.Asp307Glu)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11107495: 11107495
692LDLRNM_000527.4(LDLR): c.922G> A (p.Glu308Lys)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11218172: 11218172
693LDLRNM_000527.4(LDLR): c.932_933delAA (p.Lys311Argfs)deletionPathogenicGRCh38Chr 19, 11107506: 11107507
694LDLRNM_000527.4(LDLR): c.932A> C (p.Lys311Thr)single nucleotide variantLikely pathogenicrs761765254GRCh38Chr 19, 11107506: 11107506
695LDLRNM_000527.4(LDLR): c.933delA (p.Glu312Serfs)deletionPathogenicGRCh38Chr 19, 11107507: 11107507
696LDLRNM_000527.4(LDLR): c.934G> T (p.Glu312Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11218184: 11218184
697LDLRNM_000527.4(LDLR): c.935_936delAG (p.Glu312Valfs)deletionPathogenicGRCh38Chr 19, 11107509: 11107510
698LDLRNM_000527.4(LDLR): c.936_940delGTGCG (p.Cys313Aspfs)deletionPathogenicGRCh38Chr 19, 11107510: 11107514
699LDLRNM_000527.4(LDLR): c.937T> C (p.Cys313Arg)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11107511: 11107511
700LDLRNM_000527.4(LDLR): c.937T> G (p.Cys313Gly)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11218187: 11218187
701LDLRNM_000527.4(LDLR): c.939C> A (p.Cys313Ter)single nucleotide variantPathogenicrs13306512GRCh37Chr 19, 11218189: 11218189
702LDLRNM_000527.4(LDLR): c.939C> G (p.Cys313Trp)single nucleotide variantLikely pathogenicrs13306512GRCh38Chr 19, 11107513: 11107513
703LDLRNM_000527.4(LDLR): c.940+1G> Asingle nucleotide variantLikely pathogenicGRCh37Chr 19, 11218191: 11218191
704LDLRNM_000527.4(LDLR): c.940+1G> Csingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11107515: 11107515
705LDLRNM_000527.4(LDLR): c.940+2T> Asingle nucleotide variantLikely pathogenicrs875989912GRCh37Chr 19, 11218192: 11218192
706LDLRNC_000019.10: g.11107686_11138384del30699deletionPathogenic
707LDLRNG_009060.1: g.23979_27790del3812deletionLikely pathogenic
708LDLRNM_000527.4(LDLR): c.941-12G> Asingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11110640: 11110640
709LDLRNM_000527.4(LDLR): c.941-2A> Csingle nucleotide variantLikely pathogenicrs112366278GRCh38Chr 19, 11110650: 11110650
710LDLRNM_000527.4(LDLR): c.941-2A> Gsingle nucleotide variantLikely pathogenicrs112366278GRCh38Chr 19, 11110650: 11110650
711LDLRNC_000019.9deletionLikely pathogenicGRCh37Chr 19, 11218191: 11222189
712LDLRNC_000019.9duplicationLikely pathogenicGRCh37Chr 19, 11218191: 11223953
713LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11218191: 11226769
714LDLRNC_000019.9duplicationPathogenicGRCh37Chr 19, 11218191: 11226769
715LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11218191: 11230767
716LDLRNC_000019.9duplicationPathogenicGRCh37Chr 19, 11218191: 11230767
717LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11218191: 11233849
718LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11218191: 11238683
719LDLRNC_000019.9: g.(11218191_11221327)_(11244506_?)dupduplicationPathogenicGRCh37Chr 19, 11218191: 11244506
720LDLRNM_000527.4(LDLR): c.941-1G> Asingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11110651: 11110651
721LDLRNM_000527.4(LDLR): c.946_994del49 (p.Asn316Leufs)deletionPathogenicGRCh37Chr 19, 11221333: 11221381
722LDLRNM_000527.4(LDLR): c.947A> C (p.Asn316Thr)single nucleotide variantLikely pathogenicrs730882094GRCh37Chr 19, 11221334: 11221334
723LDLRNM_000527.4(LDLR): c.949G> A (p.Glu317Lys)single nucleotide variantLikely pathogenicrs746834464GRCh37Chr 19, 11221336: 11221336
724LDLRNM_000527.4(LDLR): c.949G> T (p.Glu317Ter)single nucleotide variantPathogenicrs746834464GRCh37Chr 19, 11221336: 11221336
725LDLRNM_000527.4(LDLR): c.951delA (p.Glu317Aspfs)deletionPathogenicGRCh38Chr 19, 11110662: 11110662
726LDLRNM_000527.4(LDLR): c.952T> C (p.Cys318Arg)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11221339: 11221339
727LDLRNM_000527.4(LDLR): c.953G> A (p.Cys318Tyr)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11110664: 11110664
728LDLRNM_000527.4(LDLR): c.953G> T (p.Cys318Phe)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11221340: 11221340
729LDLRNM_000527.4(LDLR): c.961_962delAA (p.Asn321Glnfs)deletionPathogenicGRCh38Chr 19, 11110672: 11110673
730LDLRNM_000527.4(LDLR): c.964_966delAAC (p.Asn322del)deletionLikely pathogenicGRCh38Chr 19, 11110675: 11110677
731LDLRNM_000527.4(LDLR): c.965A> T (p.Asn322Ile)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11221352: 11221352
732LDLRNM_000527.4(LDLR): c.968delG (p.Gly323Alafs)deletionPathogenicGRCh38Chr 19, 11110679: 11110679
733LDLRNM_000527.4(LDLR): c.969delC (p.Gly324Alafs)deletionPathogenicGRCh38Chr 19, 11110680: 11110680
734LDLRNM_000527.4(LDLR): c.971delG (p.Gly324Alafs)deletionPathogenicGRCh37Chr 19, 11221358: 11221358
735LDLRNM_000527.4(LDLR): c.974G> A (p.Cys325Tyr)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11110685: 11110685
736LDLRNM_000527.4(LDLR): c.977C> G (p.Ser326Cys)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11110688: 11110688
737LDLRNM_000527.4(LDLR): c.977C> T (p.Ser326Phe)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11221364: 11221364
738LDLRNM_000527.4(LDLR): c.979C> T (p.His327Tyr)single nucleotide variantLikely pathogenicrs747507019GRCh38Chr 19, 11110690: 11110690
739LDLRNM_000527.4(LDLR): c.980dupA (p.His327Glnfs)duplicationPathogenicGRCh37Chr 19, 11221367: 11221367
740LDLRNM_000527.4(LDLR): c.985T> G (p.Cys329Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11110696: 11110696
741LDLRNM_000527.4(LDLR): c.986G> T (p.Cys329Phe)single nucleotide variantLikely pathogenicrs761954844GRCh38Chr 19, 11110697: 11110697
742LDLRNM_000527.4(LDLR): c.1004G> T (p.Gly335Val)single nucleotide variantLikely pathogenicrs869320650GRCh38Chr 19, 11110715: 11110715
743LDLRNM_000527.4(LDLR): c.1007A> G (p.Tyr336Cys)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11221394: 11221394
744LDLRNM_000527.4(LDLR): c.1008C> A (p.Tyr336Ter)single nucleotide variantPathogenicrs767024374GRCh37Chr 19, 11221395: 11221395
745LDLRNM_000527.4(LDLR): c.1008delC (p.Tyr336Terfs)deletionPathogenicGRCh38Chr 19, 11110719: 11110719
746LDLRNM_000527.4(LDLR): c.1009_1032del24 (p.Glu337_Phe344del)deletionLikely pathogenicGRCh38Chr 19, 11110720: 11110743
747LDLRNM_000527.4(LDLR): c.1012T> A (p.Cys338Ser)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11110723: 11110723
748LDLRNM_000527.4(LDLR): c.1012T> C (p.Cys338Arg)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11110723: 11110723
749LDLRNM_000527.4(LDLR): c.1012T> G (p.Cys338Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11110723: 11110723
750LDLRNM_000527.4(LDLR): c.1013G> A (p.Cys338Tyr)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11110724: 11110724
751LDLRNM_000527.4(LDLR): c.1014C> A (p.Cys338Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11221401: 11221401
752LDLRNM_000527.4(LDLR): c.1016T> C (p.Leu339Pro)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11110727: 11110727
753LDLRNM_000527.4(LDLR): c.1017dupG (p.Cys340Valfs)duplicationPathogenicGRCh38Chr 19, 11110728: 11110728
754LDLRNM_000527.4(LDLR): c.1019_1020delGCinsTG (p.Cys340Leu)indelLikely pathogenicGRCh37Chr 19, 11221406: 11221407
755LDLRNM_000527.4(LDLR): c.1019G> A (p.Cys340Tyr)single nucleotide variantLikely pathogenicrs755757866GRCh37Chr 19, 11221406: 11221406
756LDLRNM_000527.4(LDLR): c.1020C> G (p.Cys340Trp)single nucleotide variantLikely pathogenicrs777524402GRCh37Chr 19, 11221407: 11221407
757LDLRNM_000527.4(LDLR): c.1027G> T (p.Gly343Cys)single nucleotide variantLikely pathogenicrs730882096GRCh37Chr 19, 11221414: 11221414
758LDLRNM_000527.4(LDLR): c.1028G> A (p.Gly343Asp)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11221415: 11221415
759LDLRNM_000527.4(LDLR): c.1031delT (p.Phe344Serfs)deletionPathogenicGRCh38Chr 19, 11110742: 11110742
760LDLRNM_000527.4(LDLR): c.1034dupA (p.Leu346Alafs)duplicationPathogenicGRCh37Chr 19, 11221421: 11221421
761LDLRNM_000527.4(LDLR): c.1042_1043insA (p.Ala348Aspfs)insertionPathogenicGRCh37Chr 19, 11221429: 11221430
762LDLRNM_000527.4(LDLR): c.1042delG (p.Ala348Profs)deletionPathogenicGRCh38Chr 19, 11110753: 11110753
763LDLRNM_000527.4(LDLR): c.1045C> T (p.Gln349Ter)single nucleotide variantPathogenicrs748300548GRCh38Chr 19, 11110756: 11110756
764LDLRNM_000527.4(LDLR): c.1045delC (p.Gln349Serfs)deletionPathogenicGRCh38Chr 19, 11110756: 11110756
765LDLRNM_000527.4(LDLR): c.1045dupC (p.Gln349Profs)duplicationPathogenicGRCh38Chr 19, 11110756: 11110756
766LDLRNM_000527.4(LDLR): c.1046delA (p.Gln349Argfs)deletionPathogenicGRCh38Chr 19, 11110757: 11110757
767LDLRNM_000527.4(LDLR): c.1053_1060dupATGCGAAG (p.Ile355Alafs)duplicationPathogenicGRCh37Chr 19, 11221440: 11221447
768LDLRNG_009060.1: g.26385_27137del753deletionPathogenic
769LDLRNM_000527.4(LDLR): c.1054T> A (p.Cys352Ser)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11110765: 11110765
770LDLRNM_000527.4(LDLR): c.1054T> C (p.Cys352Arg)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11110765: 11110765
771LDLRNM_000527.4(LDLR): c.1055G> T (p.Cys352Phe)single nucleotide variantLikely pathogenicrs193922566GRCh38Chr 19, 11110766: 11110766
772LDLRNM_000527.4(LDLR): c.1056_1060+3delCGAAGGTGdeletionPathogenicGRCh38Chr 19, 11110767: 11110774
773LDLRNM_000527.4(LDLR): c.1056C> A (p.Cys352Ter)single nucleotide variantPathogenicrs13306515GRCh38Chr 19, 11110767: 11110767
774LDLRNM_000527.4(LDLR): c.1056C> G (p.Cys352Trp)single nucleotide variantLikely pathogenicrs13306515GRCh38Chr 19, 11110767: 11110767
775LDLRNM_000527.4(LDLR): c.1060+1G> Asingle nucleotide variantPathogenicGRCh38Chr 19, 11110772: 11110772
776LDLRNM_000527.4(LDLR): c.1060+1G> Tsingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11110772: 11110772
777LDLRNM_000527.4(LDLR): c.1061-2A> Gsingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11111512: 11111512
778LDLRNC_000019.9deletionLikely pathogenicGRCh37Chr 19, 11221448: 11223953
779LDLRNC_000019.9duplicationPathogenicGRCh37Chr 19, 11221448: 11226769
780LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11221448: 11230767
781LDLRNM_000527.4(LDLR): c.1061-1G> Asingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11111513: 11111513
782LDLRNM_000527.4(LDLR): c.1061-1G> Csingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11111513: 11111513
783LDLRNM_000527.4(LDLR): c.1061A> C (p.Asp354Ala)single nucleotide variantLikely pathogenicrs755449669GRCh38Chr 19, 11111514: 11111514
784LDLRNM_000527.4(LDLR): c.1061A> G (p.Asp354Gly)single nucleotide variantLikely pathogenicrs755449669GRCh38Chr 19, 11111514: 11111514
785LDLRNM_000527.4(LDLR): c.1061A> T (p.Asp354Val)single nucleotide variantLikely pathogenicrs755449669GRCh37Chr 19, 11222190: 11222190
786LDLRNM_000527.4(LDLR): c.1062dupT (p.Ile355Tyrfs)duplicationPathogenicGRCh38Chr 19, 11111515: 11111515
787LDLRNM_000527.4(LDLR): c.1066G> C (p.Asp356His)single nucleotide variantLikely pathogenicrs767767730GRCh38Chr 19, 11111519: 11111519
788LDLRNM_000527.4(LDLR): c.1067A> C (p.Asp356Ala)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11111520: 11111520
789LDLRNM_000527.4(LDLR): c.1067delA (p.Asp356Valfs)deletionPathogenicGRCh38Chr 19, 11111520: 11111520
790LDLRNM_000527.4(LDLR): c.1069_1086dup18 (p.Asp362_Thr363insGluCysGlnAspProAsp)duplicationLikely pathogenicGRCh38Chr 19, 11111522: 11111539
791LDLRNM_000527.4(LDLR): c.1069G> A (p.Glu357Lys)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11111522: 11111522
792LDLRNM_000527.4(LDLR): c.1070_1073dupAGTG (p.Cys358Terfs)duplicationPathogenicGRCh38Chr 19, 11111523: 11111526
793LDLRNM_000527.4(LDLR): c.1070A> G (p.Glu357Gly)single nucleotide variantLikely pathogenicrs753248521GRCh38Chr 19, 11111523: 11111523
794LDLRNM_000527.4(LDLR): c.1072T> C (p.Cys358Arg)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11222201: 11222201
795LDLRNM_000527.4(LDLR): c.1075C> T (p.Gln359Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11111528: 11111528
796LDLRNM_000527.4(LDLR): c.1085delA (p.Asp362Alafs)deletionPathogenicGRCh37Chr 19, 11222214: 11222214
797LDLRNM_000527.4(LDLR): c.1088C> A (p.Thr363Asn)single nucleotide variantLikely pathogenicrs200533979GRCh38Chr 19, 11111541: 11111541
798LDLRNM_000527.4(LDLR): c.1090T> C (p.Cys364Arg)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11111543: 11111543
799LDLRNM_000527.4(LDLR): c.1091G> C (p.Cys364Ser)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11111544: 11111544
800LDLRNM_000527.4(LDLR): c.1091G> T (p.Cys364Phe)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11222220: 11222220
801LDLRNM_000527.4(LDLR): c.1096C> T (p.Gln366Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11111549: 11111549
802LDLRNM_000527.4(LDLR): c.1097A> C (p.Gln366Pro)single nucleotide variantLikely pathogenicrs746982741GRCh38Chr 19, 11111550: 11111550
803LDLRNM_000527.4(LDLR): c.1097A> G (p.Gln366Arg)single nucleotide variantLikely pathogenicrs746982741GRCh38Chr 19, 11111550: 11111550
804LDLRNM_000527.4(LDLR): c.1099_1104delCTCTGCinsGT (p.Leu367Valfs)indelPathogenicGRCh38Chr 19, 11111552: 11111557
805LDLRNM_000527.4(LDLR): c.1102T> G (p.Cys368Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11111555: 11111555
806LDLRNM_000527.4(LDLR): c.1103G> A (p.Cys368Tyr)single nucleotide variantLikely pathogenicrs768430352GRCh38Chr 19, 11111556: 11111556
807LDLRNM_000527.4(LDLR): c.1103G> C (p.Cys368Ser)single nucleotide variantLikely pathogenicrs768430352GRCh38Chr 19, 11111556: 11111556
808LDLRNM_000527.4(LDLR): c.1104C> A (p.Cys368Ter)single nucleotide variantPathogenicrs113669610GRCh38Chr 19, 11111557: 11111557
809LDLRNM_000527.4(LDLR): c.1109A> C (p.Asn370Thr)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11111562: 11111562
810LDLRNM_000527.4(LDLR): c.1110C> G (p.Asn370Lys)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11111563: 11111563
811LDLRNM_000527.4(LDLR): c.1113_1114insTGGG (p.Glu372Trpfs)insertionPathogenicGRCh37Chr 19, 11222242: 11222243
812LDLRNM_000527.4(LDLR): c.1115_1123delAGGGTGGCTinsCACTGA (p.Glu372_Tyr375delinsAlaLeuAsn)indelLikely pathogenicGRCh38Chr 19, 11111568: 11111576
813LDLRNM_000527.4(LDLR): c.1117G> T (p.Gly373Cys)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11111570: 11111570
814LDLRNM_000527.4(LDLR): c.1118G> A (p.Gly373Asp)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11111571: 11111571
815LDLRNM_000527.4(LDLR): c.1118G> T (p.Gly373Val)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11111571: 11111571
816LDLRNM_000527.4(LDLR): c.1120_1123dupGGCT (p.Tyr375Trpfs)duplicationPathogenicGRCh38Chr 19, 11111573: 11111576
817LDLRNM_000527.4(LDLR): c.1123_1124insC (p.Tyr375Serfs)insertionPathogenicGRCh38Chr 19, 11111576: 11111577
818LDLRNM_000527.4(LDLR): c.1124A> C (p.Tyr375Ser)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11111577: 11111577
819LDLRNM_000527.4(LDLR): c.1124A> G (p.Tyr375Cys)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11111577: 11111577
820LDLRNM_000527.4(LDLR): c.1129T> G (p.Cys377Gly)single nucleotide variantLikely pathogenicrs773064328GRCh37Chr 19, 11222258: 11222258
821LDLRNM_000527.4(LDLR): c.1130G> A (p.Cys377Tyr)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11111583: 11111583
822LDLRNM_000527.4(LDLR): c.1130G> C (p.Cys377Ser)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11111583: 11111583
823LDLRNM_000527.4(LDLR): c.1132C> T (p.Gln378Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11222261: 11222261
824LDLRNM_000527.4(LDLR): c.1133_1186+12deldeletionPathogenic
825LDLRNM_000527.4(LDLR): c.1135T> C (p.Cys379Arg)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11111588: 11111588
826LDLRNM_000527.4(LDLR): c.1136G> A (p.Cys379Tyr)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11111589: 11111589
827LDLRNM_000527.4(LDLR): c.1145G> T (p.Gly382Val)single nucleotide variantLikely pathogenicrs752951310GRCh37Chr 19, 11222274: 11222274
828LDLRNM_000527.4(LDLR): c.1150C> T (p.Gln384Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11111603: 11111603
829LDLRNM_000527.4(LDLR): c.1151_1159delAGCTGGACC (p.Gln384_Asp386del)deletionLikely pathogenicGRCh38Chr 19, 11111604: 11111612
830LDLRNM_000527.4(LDLR): c.1151A> C (p.Gln384Pro)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11222280: 11222280
831LDLRNM_000527.4(LDLR): c.1154T> G (p.Leu385Arg)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11111607: 11111607
832LDLRNM_000527.4(LDLR): c.1168A> T (p.Lys390Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11111621: 11111621
833LDLRNM_000527.4(LDLR): c.1173delC (p.Cys392Alafs)deletionPathogenicGRCh38Chr 19, 11111626: 11111626
834LDLRNM_000527.4(LDLR): c.1174dupT (p.Cys392Leufs)duplicationPathogenicGRCh38Chr 19, 11111627: 11111627
835LDLRNM_000527.4(LDLR): c.1174T> C (p.Cys392Arg)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11111627: 11111627
836LDLRNM_000527.4(LDLR): c.1178delA (p.Lys393Argfs)deletionPathogenicGRCh37Chr 19, 11222307: 11222307
837LDLRNM_000527.4(LDLR): c.1176C> A (p.Cys392Ter)single nucleotide variantPathogenicrs750649426GRCh37Chr 19, 11222305: 11222305
838LDLRNM_000527.4(LDLR): c.1179G> C (p.Lys393Asn)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11222308: 11222308
839LDLRNM_000527.4(LDLR): c.1182delT (p.Val395Trpfs)deletionPathogenicGRCh38Chr 19, 11111635: 11111635
840LDLRNM_000527.4(LDLR): c.1186delG (p.Gly396Alafs)deletionPathogenicGRCh38Chr 19, 11111639: 11111639
841LDLRNM_000527.4(LDLR): c.1186G> A (p.Gly396Ser)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11111639: 11111639
842LDLRNM_000527.4(LDLR): c.1186+1G> Asingle nucleotide variantLikely pathogenicrs730880131GRCh38Chr 19, 11111640: 11111640
843LDLRNM_000527.4(LDLR): c.1186+5G> Asingle nucleotide variantPathogenicGRCh38Chr 19, 11111644: 11111644
844LDLRNG_009060.1: g.27959_38249del10291deletionPathogenic
845LDLRNG_009060.1: g.28729_42838del14110deletionPathogenic
846LDLRNM_000527.4(LDLR): c.1187-2A> Gsingle nucleotide variantLikely pathogenicGRCh37Chr 19, 11223952: 11223952
847LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11222316: 11224210
848LDLRNC_000019.9duplicationPathogenicGRCh37Chr 19, 11222316: 11224210
849LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11222316: 11226769
850LDLRNC_000019.9duplicationPathogenicGRCh37Chr 19, 11222316: 11226769
851LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11222316: 11230767
852LDLRNC_000019.9duplicationPathogenicGRCh37Chr 19, 11222316: 11230767
853LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11222316: 11233849
854LDLRNC_000019.9duplicationPathogenicGRCh37Chr 19, 11222316: 11233849
855LDLRNC_000019.9: g.(11222316_11223953)_(11244506_?)deldeletionPathogenicGRCh37Chr 19, 11222316: 11244506
856LDLRNM_000527.4(LDLR): c.1187-1G> Asingle nucleotide variantLikely pathogenicGRCh37Chr 19, 11223953: 11223953
857LDLRNM_000527.4(LDLR): c.1187-1G> Tsingle nucleotide variantLikely pathogenicGRCh37Chr 19, 11223953: 11223953
858LDLRNG_009060.1: g.28908_38858del9951deletionPathogenic
859LDLRNM_000527.4(LDLR): c.1200C> A (p.Tyr400Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11113291: 11113291
860LDLRNM_000527.4(LDLR): c.1205dupT (p.Phe403Leufs)duplicationPathogenicGRCh38Chr 19, 11113296: 11113296
861LDLRNM_000527.4(LDLR): c.1206_1207delCT (p.Phe403Hisfs)deletionPathogenicGRCh38Chr 19, 11113297: 11113298
862LDLRNM_000527.4(LDLR): c.1207T> C (p.Phe403Leu)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11223974: 11223974
863LDLRNM_000527.4(LDLR): c.1208delT (p.Phe403Serfs)deletionPathogenicGRCh38Chr 19, 11113299: 11113299
864LDLRNM_000527.4(LDLR): c.1209delC (p.Phe403Leufs)deletionPathogenicGRCh38Chr 19, 11113300: 11113300
865LDLRNM_000527.4(LDLR): c.1210A> C (p.Thr404Pro)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11223977: 11223977
866LDLRNM_000527.4(LDLR): c.1211C> T (p.Thr404Ile)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113302: 11113302
867LDLRNM_000527.4(LDLR): c.1215C> G (p.Asn405Lys)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113306: 11113306
868LDLRNM_000527.4(LDLR): c.1223A> C (p.Glu408Ala)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113314: 11113314
869LDLRNM_000527.4(LDLR): c.1223A> T (p.Glu408Val)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11223990: 11223990
870LDLRNM_000527.4(LDLR): c.1230G> C (p.Arg410Ser)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11223997: 11223997
871LDLRNM_000527.4(LDLR): c.1230G> T (p.Arg410Ser)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11223997: 11223997
872LDLRNM_000527.4(LDLR): c.1231A> G (p.Lys411Glu)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113322: 11113322
873LDLRNM_000527.4(LDLR): c.1233delG (p.Met412Terfs)deletionPathogenicGRCh37Chr 19, 11224000: 11224000
874LDLRNM_000527.4(LDLR): c.1235T> C (p.Met412Thr)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11224002: 11224002
875LDLRNM_000527.4(LDLR): c.1241T> G (p.Leu414Arg)single nucleotide variantLikely pathogenicrs748554592GRCh37Chr 19, 11224008: 11224008
876LDLRNM_000527.4(LDLR): c.1243G> C (p.Asp415His)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113334: 11113334
877LDLRNM_000527.4(LDLR): c.1245_1249dupCCGGA (p.Ser417Thrfs)duplicationPathogenicGRCh38Chr 19, 11113336: 11113340
878LDLRNM_000527.4(LDLR): c.1247G> A (p.Arg416Gln)single nucleotide variantLikely pathogenicrs773658037GRCh37Chr 19, 11224014: 11224014
879LDLRNM_000527.4(LDLR): c.1247G> C (p.Arg416Pro)single nucleotide variantLikely pathogenicrs773658037GRCh37Chr 19, 11224014: 11224014
880LDLRNM_000527.4(LDLR): c.1247G> T (p.Arg416Leu)single nucleotide variantLikely pathogenicrs773658037GRCh38Chr 19, 11113338: 11113338
881LDLRNM_000527.4(LDLR): c.1252G> T (p.Glu418Ter)single nucleotide variantPathogenicrs869320651GRCh37Chr 19, 11224019: 11224019
882LDLRNM_000527.4(LDLR): c.1255T> C (p.Tyr419His)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113346: 11113346
883LDLRNM_000527.4(LDLR): c.1257C> A (p.Tyr419Ter)single nucleotide variantPathogenicrs774439908GRCh38Chr 19, 11113348: 11113348
884LDLRNM_000527.4(LDLR): c.1257C> G (p.Tyr419Ter)single nucleotide variantPathogenicrs774439908GRCh37Chr 19, 11224024: 11224024
885LDLRNM_000527.4(LDLR): c.1265T> C (p.Leu422Pro)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11224032: 11224032
886LDLRNM_000527.4(LDLR): c.1268T> C (p.Ile423Thr)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113359: 11113359
887LDLRNG_009060.1: g.28983_28984ins(96)insertionLikely pathogenic
888LDLRNM_000527.4(LDLR): c.1274A> T (p.Asn425Ile)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11224041: 11224041
889LDLRNM_000527.4(LDLR): c.1285G> T (p.Val429Leu)single nucleotide variantLikely pathogenicrs28942078GRCh38Chr 19, 11113376: 11113376
890LDLRNM_000527.4(LDLR): c.1291_1331del41 (p.Ala431Terfs)deletionPathogenicGRCh38Chr 19, 11113382: 11113422
891LDLRNM_000527.4(LDLR): c.1295T> C (p.Leu432Pro)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11224062: 11224062
892LDLRNM_000527.4(LDLR): c.1296_1298delGGA (p.Asp433del)deletionLikely pathogenicGRCh38Chr 19, 11113387: 11113389
893LDLRNM_000527.4(LDLR): c.1297G> T (p.Asp433Tyr)single nucleotide variantLikely pathogenicrs121908036GRCh37Chr 19, 11224064: 11224064
894LDLRNM_000527.4(LDLR): c.1303delG (p.Glu435Argfs)deletionPathogenicGRCh37Chr 19, 11224070: 11224070
895LDLRNM_000527.4(LDLR): c.1306delG (p.Val436Trpfs)deletionPathogenicGRCh37Chr 19, 11224073: 11224073
896LDLRNM_000527.4(LDLR): c.1309dupG (p.Ala437Glyfs)duplicationPathogenicGRCh38Chr 19, 11113400: 11113400
897LDLRNM_000527.4(LDLR): c.1322T> A (p.Ile441Asn)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113413: 11113413
898LDLRNM_000527.4(LDLR): c.1322T> C (p.Ile441Thr)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113413: 11113413
899LDLRNM_000527.4(LDLR): c.1323C> G (p.Ile441Met)single nucleotide variantLikely pathogenicrs5933GRCh38Chr 19, 11113414: 11113414
900LDLRNM_000527.4(LDLR): c.1324T> A (p.Tyr442Asn)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11224091: 11224091
901LDLRNM_000527.4(LDLR): c.1324T> C (p.Tyr442His)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113415: 11113415
902LDLRNM_000527.4(LDLR): c.1325A> G (p.Tyr442Cys)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11224092: 11224092
903LDLRNM_000527.4(LDLR): c.1326C> G (p.Tyr442Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11224093: 11224093
904LDLRNM_000527.4(LDLR): c.1328G> A (p.Trp443Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11113419: 11113419
905LDLRNM_000527.4(LDLR): c.1328G> C (p.Trp443Ser)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113419: 11113419
906LDLRNM_000527.4(LDLR): c.1329G> A (p.Trp443Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11224096: 11224096
907LDLRNM_000527.4(LDLR): c.1329G> C (p.Trp443Cys)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11224096: 11224096
908LDLRNM_000527.4(LDLR): c.1329G> T (p.Trp443Cys)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11224096: 11224096
909LDLRNM_000527.4(LDLR): c.1335C> A (p.Asp445Glu)single nucleotide variantLikely pathogenicrs749780672GRCh38Chr 19, 11113426: 11113426
910LDLRNM_000527.4(LDLR): c.1336delC (p.Leu446Cysfs)deletionPathogenicGRCh38Chr 19, 11113427: 11113427
911LDLRNM_000527.4(LDLR): c.1339T> C (p.Ser447Pro)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11224106: 11224106
912LDLRNM_000527.4(LDLR): c.1340C> G (p.Ser447Cys)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11224107: 11224107
913LDLRNM_000527.4(LDLR): c.1342C> T (p.Gln448Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11224109: 11224109
914LDLRNM_000527.4(LDLR): c.1343delA (p.Gln448Argfs)deletionPathogenicGRCh37Chr 19, 11224110: 11224110
915LDLRNM_000527.4(LDLR): c.1351A> T (p.Ile451Phe)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11224118: 11224118
916LDLRNM_000527.4(LDLR): c.1352T> C (p.Ile451Thr)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113443: 11113443
917LDLRNM_000527.4(LDLR): c.1358+1G> Asingle nucleotide variantLikely pathogenicrs775924858GRCh37Chr 19, 11224126: 11224126
918LDLRNM_000527.4(LDLR): c.1358+1G> Tsingle nucleotide variantLikely pathogenicrs775924858GRCh37Chr 19, 11224126: 11224126
919LDLRNM_000527.4(LDLR): c.1358+3_1358+8delGAGCGTdeletionLikely pathogenicGRCh38Chr 19, 11113452: 11113457
920NM_000527.4(LDLR): c.1359-31_1359-23delinsCGGCTindelPathogenicGRCh37Chr 19, 11224180: 11224188
921NM_000527.4(LDLR): c.1359-5C> Gsingle nucleotide variantPathogenicrs531005522GRCh38Chr 19, 11113530: 11113530
922NM_000527.4(LDLR): c.1359-1G> Csingle nucleotide variantLikely pathogenicrs139617694GRCh37Chr 19, 11224210: 11224210
923LDLRNM_000527.4(LDLR): c.1361C> A (p.Thr454Asn)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113537: 11113537
924LDLRNM_000527.4(LDLR): c.1363C> T (p.Gln455Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11113539: 11113539
925LDLRNM_000527.4(LDLR): c.1363delC (p.Gln455Serfs)deletionPathogenicGRCh38Chr 19, 11113539: 11113539
926LDLRNM_000527.4(LDLR): c.1365delG (p.Gln455Hisfs)deletionPathogenicGRCh38Chr 19, 11113541: 11113541
927LDLRNM_000527.4(LDLR): c.1367_1376delTTGACAGAGC (p.Leu456Profs)deletionPathogenicGRCh38Chr 19, 11113543: 11113552
928LDLRNM_000527.4(LDLR): c.1367T> A (p.Leu456His)single nucleotide variantLikely pathogenicrs200143634GRCh37Chr 19, 11224219: 11224219
929LDLRNM_000527.4(LDLR): c.1374_1375delAG (p.Arg458Serfs)deletionPathogenicGRCh38Chr 19, 11113550: 11113551
930LDLRNM_000527.4(LDLR): c.1377_1380delCCAC (p.His460Alafs)deletionPathogenicGRCh38Chr 19, 11113553: 11113556
931LDLRNM_000527.4(LDLR): c.1379_1396del18insCAGCTTA (p.His460Profs)indelPathogenicGRCh38Chr 19, 11113555: 11113572
932LDLRNM_000527.4(LDLR): c.1379_1402del24insCAGCTTGACCCGC (p.His460Profs)indelPathogenicGRCh38Chr 19, 11113555: 11113578
933LDLRNM_000527.4(LDLR): c.1392delC (p.Tyr465Metfs)deletionPathogenicGRCh38Chr 19, 11113568: 11113568
934LDLRNM_000527.4(LDLR): c.1403T> A (p.Val468Asp)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11224255: 11224255
935LDLRNM_000527.4(LDLR): c.1415_1418dupACAT (p.Gln474Hisfs)duplicationPathogenicGRCh38Chr 19, 11113591: 11113594
936LDLRNM_000527.4(LDLR): c.1417_1431delATCCAGGCCCCCGAC (p.Ile473_Asp477del)deletionLikely pathogenicGRCh38Chr 19, 11113593: 11113607
937LDLRNM_000527.4(LDLR): c.1420C> T (p.Gln474Ter)single nucleotide variantPathogenicrs201967266GRCh38Chr 19, 11113596: 11113596
938LDLRNM_000527.4(LDLR): c.1423_1424delGCinsA (p.Ala475Thrfs)indelPathogenicGRCh38Chr 19, 11113599: 11113600
939LDLRNM_000527.4(LDLR): c.1424C> T (p.Ala475Val)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113600: 11113600
940LDLRNM_000527.4(LDLR): c.1426C> T (p.Pro476Ser)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113602: 11113602
941LDLRNM_000527.4(LDLR): c.1434delG (p.Leu479Trpfs)deletionPathogenicGRCh38Chr 19, 11113610: 11113610
942LDLRNM_000527.4(LDLR): c.1436T> C (p.Leu479Pro)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113612: 11113612
943LDLRNM_000527.4(LDLR): c.1438G> C (p.Ala480Pro)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113614: 11113614
944LDLRNM_000527.4(LDLR): c.1439_1449delCTGTGGACTGG (p.Ala480Aspfs)deletionPathogenicGRCh38Chr 19, 11113615: 11113625
945LDLRNM_000527.4(LDLR): c.1441G> A (p.Val481Met)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113617: 11113617
946LDLRNM_000527.4(LDLR): c.1444G> C (p.Asp482His)single nucleotide variantLikely pathogenicrs139624145GRCh38Chr 19, 11113620: 11113620
947LDLRNM_000527.4(LDLR): c.1444G> T (p.Asp482Tyr)single nucleotide variantLikely pathogenicrs139624145GRCh38Chr 19, 11113620: 11113620
948LDLRNM_000527.4(LDLR): c.1445A> G (p.Asp482Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113621: 11113621
949LDLRNM_000527.4(LDLR): c.1447T> C (p.Trp483Arg)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11224299: 11224299
950LDLRNM_000527.4(LDLR): c.1454A> G (p.His485Arg)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11224306: 11224306
951LDLRNM_000527.4(LDLR): c.1449G> A (p.Trp483Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11224301: 11224301
952LDLRNM_000527.4(LDLR): c.1455C> G (p.His485Gln)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113631: 11113631
953LDLRNM_000527.4(LDLR): c.1463T> A (p.Ile488Asn)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11224315: 11224315
954LDLRNM_000527.4(LDLR): c.1463T> C (p.Ile488Thr)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11224315: 11224315
955LDLRNM_000527.4(LDLR): c.1463T> G (p.Ile488Ser)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11224315: 11224315
956LDLRNM_000527.4(LDLR): c.1466A> G (p.Tyr489Cys)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113642: 11113642
957LDLRNM_000527.4(LDLR): c.1468T> G (p.Trp490Gly)single nucleotide variantLikely pathogenicrs730880130GRCh38Chr 19, 11113644: 11113644
958LDLRNM_000527.4(LDLR): c.1470G> A (p.Trp490Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11224322: 11224322
959LDLRNM_000527.4(LDLR): c.1471dupA (p.Thr491Asnfs)duplicationPathogenicGRCh38Chr 19, 11113647: 11113647
960LDLRNM_000527.4(LDLR): c.1472C> A (p.Thr491Asn)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113648: 11113648
961LDLRNM_000527.4(LDLR): c.1474G> C (p.Asp492His)single nucleotide variantLikely pathogenicrs373646964GRCh38Chr 19, 11113650: 11113650
962LDLRNM_000527.4(LDLR): c.1475A> G (p.Asp492Gly)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11224327: 11224327
963LDLRNM_000527.4(LDLR): c.1477_1479delTCTinsAGAGACA (p.Ser493Argfs)indelPathogenicGRCh38Chr 19, 11113653: 11113655
964LDLRNM_000527.4(LDLR): c.1487G> T (p.Gly496Val)single nucleotide variantLikely pathogenicrs751603969GRCh38Chr 19, 11113663: 11113663
965LDLRNM_000527.4(LDLR): c.1489A> C (p.Thr497Pro)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113665: 11113665
966LDLRNM_000527.4(LDLR): c.1496_1497delCT (p.Ser499Cysfs)deletionPathogenicGRCh38Chr 19, 11113672: 11113673
967LDLRNM_000527.4(LDLR): c.1498_1499delGT (p.Val500Cysfs)deletionPathogenicGRCh38Chr 19, 11113674: 11113675
968LDLRNM_000527.4(LDLR): c.1502C> A (p.Ala501Glu)single nucleotide variantLikely pathogenicrs755667663GRCh37Chr 19, 11224354: 11224354
969LDLRNM_000527.4(LDLR): c.1502C> T (p.Ala501Val)single nucleotide variantLikely pathogenicrs755667663GRCh38Chr 19, 11113678: 11113678
970LDLRNM_000527.4(LDLR): c.1502dupC (p.Asp502Glyfs)duplicationPathogenicGRCh38Chr 19, 11113678: 11113678
971LDLRNM_000527.4(LDLR): c.1510A> T (p.Lys504Ter)single nucleotide variantPathogenicrs730882103GRCh38Chr 19, 11113686: 11113686
972LDLRNM_000527.4(LDLR): c.1514G> A (p.Gly505Asp)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113690: 11113690
973LDLRNM_000527.4(LDLR): c.1516_1562del47 (p.Val506Hisfs)deletionPathogenicGRCh38Chr 19, 11113692: 11113738
974LDLRNM_000527.4(LDLR): c.1520A> C (p.Lys507Thr)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11224372: 11224372
975LDLRNM_000527.4(LDLR): c.1522delAinsCTGAAT (p.Arg508Leufs)indelPathogenicGRCh38Chr 19, 11113698: 11113698
976LDLRNM_000527.4(LDLR): c.1525A> G (p.Lys509Glu)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113701: 11113701
977LDLRNM_000527.4(LDLR): c.1529C> T (p.Thr510Met)single nucleotide variantLikely pathogenicrs755154048GRCh38Chr 19, 11113705: 11113705
978LDLRNM_000527.4(LDLR): c.1532T> C (p.Leu511Ser)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113708: 11113708
979LDLRNM_000527.4(LDLR): c.1532T> G (p.Leu511Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11113708: 11113708
980LDLRNM_000527.4(LDLR): c.1533dupA (p.Phe512Ilefs)duplicationPathogenicGRCh37Chr 19, 11224385: 11224385
981LDLRNM_000527.4(LDLR): c.1549_1555delTCCAAGC (p.Ser517Glnfs)deletionPathogenicGRCh38Chr 19, 11113725: 11113731
982LDLRNM_000527.4(LDLR): c.1555C> T (p.Pro519Ser)single nucleotide variantLikely pathogenicrs875989923GRCh38Chr 19, 11113731: 11113731
983LDLRNM_000527.4(LDLR): c.1558A> G (p.Arg520Gly)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11224410: 11224410
984LDLRNM_000527.4(LDLR): c.1567_1575delGTGGTGGAT (p.Val523_Asp525del)deletionLikely pathogenicGRCh38Chr 19, 11113743: 11113751
985LDLRNM_000527.4(LDLR): c.1571T> G (p.Val524Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113747: 11113747
986LDLRNM_000527.4(LDLR): c.1574A> T (p.Asp525Val)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11113750: 11113750
987LDLRNM_000527.4(LDLR): c.1576C> A (p.Pro526Thr)single nucleotide variantLikely pathogenicrs730882106GRCh38Chr 19, 11113752: 11113752
988LDLRNM_000527.4(LDLR): c.1577C> G (p.Pro526Arg)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11224429: 11224429
989LDLRNM_000527.4(LDLR): c.1586+1G> Asingle nucleotide variantPathogenicrs755389753GRCh37Chr 19, 11224439: 11224439
990LDLRNM_000527.4(LDLR): c.1586+1G> Tsingle nucleotide variantLikely pathogenicrs755389753GRCh38Chr 19, 11113763: 11113763
991LDLRNM_000527.4(LDLR): c.1586+2T> Asingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11113764: 11113764
992LDLRNM_000527.4(LDLR): c.1586+2T> Csingle nucleotide variantLikely pathogenicGRCh37Chr 19, 11224440: 11224440
993LDLRNM_000527.4(LDLR): c.1586+5G> Asingle nucleotide variantLikely pathogenicrs781362878GRCh37Chr 19, 11224443: 11224443
994LDLRNM_000527.4(LDLR): c.1587-2A> Gsingle nucleotide variantLikely pathogenicGRCh37Chr 19, 11226768: 11226768
995LDLRNM_000527.4(LDLR): c.1587-2A> Tsingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11116092: 11116092
996LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11224439: 11227534
997LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11224439: 11230767
998LDLRNC_000019.9duplicationPathogenicGRCh37Chr 19, 11224439: 11230767
999LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11224439: 11233849
1000LDLRNC_000019.9duplicationPathogenicGRCh37Chr 19, 11224439: 11233849
1001LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11224439: 11238683
1002LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11224439: 11240188
1003LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11224439: 11241956
1004LDLRNC_000019.9: g.(11224439_11226769)_(11244506_?)deldeletionPathogenicGRCh37Chr 19, 11224439: 11244506
1005LDLRNM_000527.4(LDLR): c.1587-1G> Asingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11116093: 11116093
1006LDLRNM_000527.4(LDLR): c.1587_1591delCTTCA (p.Phe530Valfs)deletionPathogenicGRCh38Chr 19, 11116094: 11116098
1007LDLRNM_000527.4(LDLR): c.1592_1627del36 (p.Met531_Ile542del)deletionLikely pathogenicGRCh38Chr 19, 11116099: 11116134
1008LDLRNM_000527.4(LDLR): c.1597T> C (p.Trp533Arg)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11116104: 11116104
1009LDLRNM_000527.4(LDLR): c.1598G> A (p.Trp533Ter)single nucleotide variantPathogenicrs746939188GRCh38Chr 19, 11116105: 11116105
1010LDLRNM_000527.4(LDLR): c.1599G> A (p.Trp533Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11116106: 11116106
1011LDLRNM_000527.4(LDLR): c.1600_1608delACTGACTGG (p.Thr534_Trp536del)deletionLikely pathogenicGRCh38Chr 19, 11116107: 11116115
1012LDLRNM_000527.4(LDLR): c.1601C> A (p.Thr534Asn)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11116108: 11116108
1013LDLRNM_000527.4(LDLR): c.1603G> T (p.Asp535Tyr)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11116110: 11116110
1014LDLRNM_000527.4(LDLR): c.1606T> G (p.Trp536Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11116113: 11116113
1015LDLRNM_000527.4(LDLR): c.1607G> A (p.Trp536Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11226790: 11226790
1016LDLRNM_000527.4(LDLR): c.1609G> T (p.Gly537Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11116116: 11116116
1017LDLRNM_000527.4(LDLR): c.1610delG (p.Gly537Glufs)deletionPathogenicGRCh37Chr 19, 11226793: 11226793
1018LDLRNM_000527.4(LDLR): c.1625T> G (p.Ile542Ser)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11226808: 11226808
1019LDLRNM_000527.4(LDLR): c.1629_1652del24 (p.Lys543_Asp551delinsAsn)deletionLikely pathogenicGRCh38Chr 19, 11116136: 11116159
1020LDLRNM_000527.4(LDLR): c.1632delA (p.Gly546Alafs)deletionPathogenicGRCh38Chr 19, 11116139: 11116139
1021LDLRNM_000527.4(LDLR): c.1633G> A (p.Gly545Arg)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11116140: 11116140
1022LDLRNM_000527.4(LDLR): c.1633G> C (p.Gly545Arg)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11226816: 11226816
1023LDLRNM_000527.4(LDLR): c.1633G> T (p.Gly545Trp)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11226816: 11226816
1024LDLRNM_000527.4(LDLR): c.1634G> A (p.Gly545Glu)single nucleotide variantLikely pathogenicrs759876319GRCh37Chr 19, 11226817: 11226817
1025LDLRNM_000527.4(LDLR): c.1636G> C (p.Gly546Arg)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11226819: 11226819
1026LDLRNM_000527.4(LDLR): c.1637G> T (p.Gly546Val)single nucleotide variantLikely pathogenicrs28942081GRCh38Chr 19, 11116144: 11116144
1027LDLRNM_000527.4(LDLR)indelPathogenicGRCh37Chr 19, 11226823: 11226835
1028LDLRNM_000527.4(LDLR): c.1640T> C (p.Leu547Pro)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11226823: 11226823
1029LDLRNM_000527.4(LDLR): c.1644_1645insC (p.Gly549Argfs)insertionPathogenicGRCh37Chr 19, 11226827: 11226828
1030LDLRNM_000527.4(LDLR): c.1644T> A (p.Asn548Lys)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11226827: 11226827
1031LDLRNM_000527.4(LDLR): c.1644T> G (p.Asn548Lys)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11116151: 11116151
1032LDLRNM_000527.4(LDLR): c.1645_1646insC (p.Gly549Alafs)insertionPathogenicGRCh38Chr 19, 11116152: 11116153
1033LDLRNM_000527.4(LDLR): c.1655delT (p.Ile552Thrfs)deletionPathogenicGRCh38Chr 19, 11116162: 11116162
1034LDLRNM_000527.4(LDLR): c.1646G> T (p.Gly549Val)single nucleotide variantLikely pathogenicrs28941776GRCh38Chr 19, 11116153: 11116153
1035LDLRNM_000527.4(LDLR): c.1651delG (p.Asp551Thrfs)deletionPathogenicGRCh38Chr 19, 11116158: 11116158
1036LDLRNM_000527.4(LDLR): c.1659_1661delCTCinsATACTTTCA (p.Tyr553_Ala860del)indelPathogenicGRCh38Chr 19, 11116166: 11116168
1037LDLRNM_000527.4(LDLR): c.1661C> A (p.Ser554Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11116168: 11116168
1038LDLRNM_000527.4(LDLR): c.1662_1669dupGCTGGTGA (p.Thr557Serfs)duplicationPathogenicGRCh37Chr 19, 11226845: 11226852
1039LDLRNM_000527.4(LDLR): c.1664T> C (p.Leu555Pro)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11226847: 11226847
1040LDLRNM_000527.4(LDLR): c.1671_1672delTG (p.Glu558Lysfs)deletionPathogenicGRCh38Chr 19, 11116178: 11116179
1041LDLRNM_000527.4(LDLR): c.1672G> T (p.Glu558Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11226855: 11226855
1042LDLRNM_000527.4(LDLR): c.1681C> T (p.Gln561Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11116188: 11116188
1043LDLRNM_000527.4(LDLR): c.1683delG (p.Gln561Hisfs)deletionPathogenicGRCh37Chr 19, 11226866: 11226866
1044LDLRNM_000527.4(LDLR): c.1684_1686dupTGG (p.Trp562_Pro563insTrp)duplicationLikely pathogenicGRCh37Chr 19, 11226867: 11226869
1045LDLRNM_000527.4(LDLR): c.1686_1693delGCCCAATGinsT (p.Trp562Cysfs)indelPathogenicGRCh38Chr 19, 11116193: 11116200
1046LDLRNM_000527.4(LDLR): c.1686G> A (p.Trp562Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11116193: 11116193
1047LDLRNM_000527.4(LDLR): c.1687C> T (p.Pro563Ser)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11116194: 11116194
1048LDLRNM_000527.4(LDLR): c.1688C> A (p.Pro563His)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11226871: 11226871
1049LDLRNM_000527.4(LDLR): c.1689dupC (p.Asn564Glnfs)duplicationPathogenicGRCh38Chr 19, 11116196: 11116196
1050LDLRNM_000527.4(LDLR): c.1690A> G (p.Asn564Asp)single nucleotide variantLikely pathogenicrs397509365GRCh37Chr 19, 11226873: 11226873
1051LDLRNM_000527.4(LDLR): c.1698_1704delCACCCTAinsGCCCAAT (p.Ile566_Leu568delinsMetProAsn)indelLikely pathogenicGRCh37Chr 19, 11226881: 11226887
1052LDLRNM_000527.4(LDLR): c.1702_1705dupCTAG (p.Asp569Alafs)duplicationPathogenicGRCh37Chr 19, 11226885: 11226888
1053LDLRNM_000527.4(LDLR): c.1702C> G (p.Leu568Val)single nucleotide variantLikely pathogenicrs746959386GRCh38Chr 19, 11116209: 11116209
1054LDLRNM_000527.4(LDLR): c.1703T> C (p.Leu568Pro)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11116210: 11116210
1055LDLRNM_000527.4(LDLR): c.1705delG (p.Asp569Ilefs)deletionPathogenicGRCh37Chr 19, 11226888: 11226888
1056LDLRNM_000527.4(LDLR): c.1705G> T (p.Asp569Tyr)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11116212: 11116212
1057LDLRNM_000527.4(LDLR): c.1705+1G> Csingle nucleotide variantLikely pathogenicrs875989926GRCh38Chr 19, 11116213: 11116213
1058LDLRNM_000527.4(LDLR): c.1705+1G> Tsingle nucleotide variantLikely pathogenicrs875989926GRCh38Chr 19, 11116213: 11116213
1059LDLRNM_000527.4(LDLR): c.1705+2_1705+3insCinsertionLikely pathogenicGRCh37Chr 19, 11226890: 11226891
1060LDLRNM_000527.4(LDLR): c.1706-2A> Csingle nucleotide variantLikely pathogenicrs878854027GRCh37Chr 19, 11227533: 11227533
1061LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11226889: 11230767
1062LDLRNC_000019.9duplicationPathogenicGRCh37Chr 19, 11226889: 11230767
1063LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11226889: 11240188
1064LDLRNC_000019.9: g.(11226889_11227534)_(11244506_?)deldeletionPathogenicGRCh37Chr 19, 11226889: 11244506
1065LDLRNM_000527.4(LDLR): c.1706-1G> Asingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11116858: 11116858
1066LDLRNM_000527.4(LDLR): c.1706-1G> Tsingle nucleotide variantLikely pathogenicGRCh37Chr 19, 11227534: 11227534
1067LDLRNM_000527.4(LDLR): c.1718delG (p.Gly573Alafs)deletionPathogenicGRCh38Chr 19, 11116871: 11116871
1068LDLRNM_000527.4(LDLR): c.1721G> A (p.Arg574His)single nucleotide variantLikely pathogenicrs777188764GRCh37Chr 19, 11227550: 11227550
1069LDLRNM_000527.4(LDLR): c.1727A> C (p.Tyr576Ser)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11227556: 11227556
1070LDLRNM_000527.4(LDLR): c.1727A> G (p.Tyr576Cys)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11227556: 11227556
1071LDLRNM_000527.4(LDLR): c.1729T> G (p.Trp577Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11116882: 11116882
1072LDLRNM_000527.4(LDLR): c.1729T> C (p.Trp577Arg)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11227558: 11227558
1073LDLRNM_000527.4(LDLR): c.1730_1738delGGGTTGACT (p.Trp577_Asp579del)deletionLikely pathogenicGRCh38Chr 19, 11116883: 11116891
1074LDLRNM_000527.4(LDLR): c.1730G> C (p.Trp577Ser)single nucleotide variantLikely pathogenicrs138947766GRCh37Chr 19, 11227559: 11227559
1075LDLRNM_000527.4(LDLR): c.1731G> T (p.Trp577Cys)single nucleotide variantLikely pathogenicrs875989928GRCh38Chr 19, 11116884: 11116884
1076LDLRNM_000527.4(LDLR): c.1735G> A (p.Asp579Asn)single nucleotide variantLikely pathogenicrs875989929GRCh38Chr 19, 11116888: 11116888
1077LDLRNM_000527.4(LDLR): c.1736A> C (p.Asp579Ala)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11227565: 11227565
1078LDLRNM_000527.4(LDLR): c.1736A> G (p.Asp579Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11116889: 11116889
1079LDLRNM_000527.4(LDLR): c.1737C> G (p.Asp579Glu)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11116890: 11116890
1080LDLRNM_000527.4(LDLR): c.1737delC (p.Ser580Profs)deletionPathogenicGRCh38Chr 19, 11116890: 11116890
1081LDLRNM_000527.4(LDLR): c.1745_1746delTT (p.Leu582Profs)deletionPathogenicGRCh38Chr 19, 11116898: 11116899
1082LDLRNM_000527.4(LDLR): c.1748A> G (p.His583Arg)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11227577: 11227577
1083LDLRNM_000527.4(LDLR): c.1749_1753delCTCCA (p.Ser584Leufs)deletionPathogenicGRCh38Chr 19, 11116902: 11116906
1084LDLRNM_000527.4(LDLR): c.1749C> A (p.His583Gln)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11116902: 11116902
1085LDLRNM_000527.4(LDLR): c.1750T> C (p.Ser584Pro)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11116903: 11116903
1086LDLRNM_000527.4(LDLR): c.1752delC (p.Ile585Serfs)deletionPathogenicGRCh38Chr 19, 11116905: 11116905
1087LDLRNM_000527.4(LDLR): c.1754T> A (p.Ile585Asn)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11227583: 11227583
1088LDLRNM_000527.4(LDLR): c.1754T> C (p.Ile585Thr)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11116907: 11116907
1089LDLRNM_000527.4(LDLR): c.1756delT (p.Ser586Glnfs)deletionPathogenicGRCh37Chr 19, 11227585: 11227585
1090LDLRNM_000527.4(LDLR): c.1759delA (p.Ser587Alafs)deletionPathogenicGRCh37Chr 19, 11227588: 11227588
1091LDLRNM_000527.4(LDLR): c.1766_1767delAT (p.Asp589Glyfs)deletionPathogenicGRCh38Chr 19, 11116919: 11116920
1092LDLRNM_000527.4(LDLR): c.1766delA (p.Asp589Valfs)deletionPathogenicGRCh38Chr 19, 11116919: 11116919
1093LDLRNM_000527.4(LDLR): c.1778delG (p.Gly593Alafs)deletionPathogenicGRCh38Chr 19, 11116931: 11116931
1094LDLRNM_000527.4(LDLR): c.1778dupG (p.Asn594Glnfs)duplicationPathogenicGRCh38Chr 19, 11116931: 11116931
1095LDLRNM_000527.4(LDLR): c.1779delC (p.Asn594Thrfs)deletionPathogenicGRCh38Chr 19, 11116932: 11116932
1096LDLRNM_000527.4(LDLR): c.1784_1790delGGAAGAC (p.Arg595Profs)deletionPathogenicGRCh38Chr 19, 11116937: 11116943
1097LDLRNM_000527.4(LDLR): c.1784G> T (p.Arg595Leu)single nucleotide variantLikely pathogenicrs201102492GRCh37Chr 19, 11227613: 11227613
1098LDLRNM_000527.4(LDLR): c.1786A> T (p.Lys596Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11227615: 11227615
1099LDLRNM_000527.4(LDLR): c.1789delA (p.Thr597Profs)deletionPathogenicGRCh37Chr 19, 11227618: 11227618
1100LDLRNM_000527.4(LDLR): c.1796T> G (p.Leu599Trp)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11116949: 11116949
1101LDLRNM_000527.4(LDLR): c.1798G> T (p.Glu600Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11116951: 11116951
1102LDLRNM_000527.4(LDLR): c.1801G> T (p.Asp601Tyr)single nucleotide variantLikely pathogenicrs753707206GRCh38Chr 19, 11116954: 11116954
1103LDLRNM_000527.4(LDLR): c.1802A> T (p.Asp601Val)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11227631: 11227631
1104LDLRNM_000527.4(LDLR): c.1802dupA (p.Asp601Glufs)duplicationPathogenicGRCh37Chr 19, 11227631: 11227631
1105LDLRNM_000527.4(LDLR): c.1807A> T (p.Lys603Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11116960: 11116960
1106LDLRNM_000527.4(LDLR): c.1813C> T (p.Leu605=)single nucleotide variantPathogenicGRCh38Chr 19, 11116966: 11116966
1107LDLRNM_000527.4(LDLR): c.1815_1825delGGCCCACCCCT (p.Ala606Leufs)deletionPathogenicGRCh38Chr 19, 11116968: 11116978
1108LDLRNM_000527.4(LDLR): c.1820A> G (p.His607Arg)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11116973: 11116973
1109LDLRNM_000527.4(LDLR): c.1822C> A (p.Pro608Thr)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11227651: 11227651
1110LDLRNM_000527.4(LDLR): c.1822C> T (p.Pro608Ser)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11116975: 11116975
1111LDLRNM_000527.4(LDLR): c.1823C> G (p.Pro608Arg)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11116976: 11116976
1112LDLRNM_000527.4(LDLR): c.1823C> T (p.Pro608Leu)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11116976: 11116976
1113LDLRNM_000527.4(LDLR): c.1829_1831delCCT (p.Ser610del)deletionLikely pathogenicGRCh38Chr 19, 11116982: 11116984
1114LDLRNM_000527.4(LDLR): c.1829C> G (p.Ser610Cys)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11116982: 11116982
1115LDLRNM_000527.4(LDLR): c.1829C> T (p.Ser610Phe)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11116982: 11116982
1116LDLRNM_000527.4(LDLR): c.1832dupT (p.Leu611Phefs)duplicationPathogenicGRCh38Chr 19, 11116985: 11116985
1117LDLRNM_000527.4(LDLR): c.1833G> C (p.Leu611Phe)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11116986: 11116986
1118LDLRNM_000527.4(LDLR): c.1833G> T (p.Leu611Phe)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11227662: 11227662
1119LDLRNM_000527.4(LDLR): c.1840T> A (p.Phe614Ile)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11116993: 11116993
1120LDLRNM_000527.4(LDLR): c.1841_1842delTT (p.Phe614Terfs)deletionPathogenicGRCh38Chr 19, 11116994: 11116995
1121LDLRNM_000527.4(LDLR): c.1843G> A (p.Glu615Lys)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11227672: 11227672
1122LDLRNM_000527.4(LDLR): c.1844A> T (p.Glu615Val)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11116997: 11116997
1123LDLRNM_000527.4(LDLR): c.1845G> A (p.Glu615=)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11227674: 11227674
1124LDLRNM_000527.4(LDLR): c.1845+1delGdeletionLikely pathogenicGRCh38Chr 19, 11116999: 11116999
1125LDLRNM_000527.4(LDLR): c.1845+1G> Asingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11116999: 11116999
1126LDLRNM_000527.4(LDLR): c.1845+1G> Csingle nucleotide variantPathogenicGRCh38Chr 19, 11116999: 11116999
1127LDLRNM_000527.4(LDLR): c.1845+1G> Tsingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11116999: 11116999
1128LDLRNM_000527.4(LDLR): c.1845+2T> Csingle nucleotide variantLikely pathogenicrs778408161GRCh38Chr 19, 11117000: 11117000
1129LDLRNM_000527.4(LDLR): c.1846-2A> Csingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11120090: 11120090
1130LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11227675: 11233849
1131LDLRNC_000019.9duplicationPathogenicGRCh37Chr 19, 11227675: 11233849
1132LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11227675: 11238683
1133LDLRNC_000019.9duplicationPathogenicGRCh37Chr 19, 11227675: 11238683
1134LDLRNC_000019.9: g.(11227675_11230767)_(11244506_?)deldeletionPathogenicGRCh37Chr 19, 11227675: 11244506
1135LDLRNM_000527.4(LDLR): c.1846-1G> Asingle nucleotide variantPathogenicGRCh37Chr 19, 11230767: 11230767
1136LDLRNM_000527.4(LDLR): c.1846-1G> Csingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11120091: 11120091
1137LDLRNM_000527.4(LDLR): c.1853_1864delTATTTTGGACAG (p.Val618_Thr621del)deletionLikely pathogenicGRCh38Chr 19, 11120099: 11120110
1138LDLRNM_000527.4(LDLR): c.1855_1856insA (p.Phe619Tyrfs)insertionPathogenicGRCh37Chr 19, 11230777: 11230778
1139LDLRNM_000527.4(LDLR): c.1855T> C (p.Phe619Leu)single nucleotide variantLikely pathogenicrs747134711GRCh37Chr 19, 11230777: 11230777
1140LDLRNM_000527.4(LDLR): c.1856T> C (p.Phe619Ser)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11230778: 11230778
1141LDLRNM_000527.4(LDLR): c.1856T> G (p.Phe619Cys)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11120102: 11120102
1142LDLRNM_000527.4(LDLR): c.1858T> C (p.Trp620Arg)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11230780: 11230780
1143LDLRNM_000527.4(LDLR): c.1859G> A (p.Trp620Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11230781: 11230781
1144LDLRNM_000527.4(LDLR): c.1860dupG (p.Thr621Aspfs)duplicationPathogenicGRCh38Chr 19, 11120106: 11120106
1145LDLRNM_000527.4(LDLR): c.1860G> A (p.Trp620Ter)single nucleotide variantPathogenicrs875989933GRCh37Chr 19, 11230782: 11230782
1146LDLRNM_000527.4(LDLR): c.1860G> C (p.Trp620Cys)single nucleotide variantLikely pathogenicrs875989933GRCh38Chr 19, 11120106: 11120106
1147LDLRNM_000527.4(LDLR): c.1862C> G (p.Thr621Arg)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11120108: 11120108
1148LDLRNM_000527.4(LDLR): c.1864G> A (p.Asp622Asn)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11120110: 11120110
1149LDLRNM_000527.4(LDLR): c.1865A> C (p.Asp622Ala)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11230787: 11230787
1150LDLRNM_000527.4(LDLR): c.1865A> G (p.Asp622Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11120111: 11120111
1151LDLRNM_000527.4(LDLR): c.1867_1868delAT (p.Ile623Hisfs)deletionPathogenicGRCh38Chr 19, 11120113: 11120114
1152LDLRNM_000527.4(LDLR): c.1871_1873delTCA (p.Ile624del)deletionLikely pathogenicGRCh38Chr 19, 11120117: 11120119
1153LDLRNM_000527.4(LDLR): c.1872delC (p.Asn625Thrfs)deletionPathogenicGRCh38Chr 19, 11120118: 11120118
1154LDLRNM_000527.4(LDLR): c.1876delG (p.Glu626Lysfs)deletionPathogenicGRCh37Chr 19, 11230798: 11230798
1155LDLRNM_000527.4(LDLR): c.1879G> A (p.Ala627Thr)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11230801: 11230801
1156LDLRNM_000527.4(LDLR): c.1880C> T (p.Ala627Val)single nucleotide variantLikely pathogenicrs875989934GRCh38Chr 19, 11120126: 11120126
1157LDLRNM_000527.4(LDLR): c.1883T> C (p.Ile628Thr)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11120129: 11120129
1158LDLRNM_000527.4(LDLR): c.1886delT (p.Phe629Serfs)deletionPathogenicGRCh37Chr 19, 11230808: 11230808
1159LDLRNM_000527.4(LDLR): c.1886T> G (p.Phe629Cys)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11120132: 11120132
1160LDLRNM_000527.4(LDLR): c.1892C> A (p.Ala631Asp)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11120138: 11120138
1161LDLRNM_000527.4(LDLR): c.1898G> T (p.Arg633Leu)single nucleotide variantLikely pathogenicrs754536745GRCh38Chr 19, 11120144: 11120144
1162LDLRNM_000527.4(LDLR): c.1904C> T (p.Thr635Ile)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11120150: 11120150
1163LDLRNM_000527.4(LDLR): c.1906G> A (p.Gly636Ser)single nucleotide variantLikely pathogenicrs764550980GRCh38Chr 19, 11120152: 11120152
1164LDLRNM_000527.4(LDLR): c.1916T> G (p.Val639Gly)single nucleotide variantLikely pathogenicrs794728584GRCh38Chr 19, 11120162: 11120162
1165LDLRNM_000527.4(LDLR): c.1925T> C (p.Leu642Ser)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11120171: 11120171
1166LDLRNM_000527.4(LDLR): c.1934dupA (p.Asn645Lysfs)duplicationPathogenicGRCh38Chr 19, 11120180: 11120180
1167LDLRNM_000527.4(LDLR): c.1935_1936insA (p.Leu646Thrfs)insertionPathogenicGRCh37Chr 19, 11230857: 11230858
1168LDLRNM_000527.4(LDLR): c.1936C> A (p.Leu646Ile)single nucleotide variantLikely pathogenicrs779940524GRCh38Chr 19, 11120182: 11120182
1169LDLRNM_000527.4(LDLR): c.1936delC (p.Leu646Tyrfs)deletionPathogenicGRCh37Chr 19, 11230858: 11230858
1170LDLRNM_000527.4(LDLR): c.1942T> C (p.Ser648Pro)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11230864: 11230864
1171LDLRNM_000527.4(LDLR): c.1945C> T (p.Pro649Ser)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11120191: 11120191
1172LDLRNM_000527.4(LDLR): c.1946delC (p.Pro649Glnfs)deletionPathogenicGRCh38Chr 19, 11120192: 11120192
1173LDLRNM_000527.4(LDLR): c.1946dupC (p.Glu650Argfs)duplicationPathogenicGRCh38Chr 19, 11120192: 11120192
1174LDLRNM_000527.4(LDLR): c.1948_1952dupGAGGA (p.Asp651Glufs)duplicationPathogenicGRCh38Chr 19, 11120194: 11120198
1175LDLRNM_000527.4(LDLR): c.1951G> T (p.Asp651Tyr)single nucleotide variantLikely pathogenicrs730882110GRCh37Chr 19, 11230873: 11230873
1176LDLRNM_000527.4(LDLR): c.1952A> T (p.Asp651Val)single nucleotide variantLikely pathogenicrs563382937GRCh38Chr 19, 11120198: 11120198
1177LDLRNM_000527.4(LDLR): c.1960C> T (p.Leu654Phe)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11230882: 11230882
1178LDLRNM_000527.4(LDLR): c.1961_1965dupTCTTC (p.His656Serfs)duplicationPathogenicGRCh38Chr 19, 11120207: 11120211
1179LDLRNM_000527.4(LDLR): c.1964delT (p.Phe655Serfs)deletionPathogenicGRCh38Chr 19, 11120210: 11120210
1180LDLRNM_000527.4(LDLR): c.1966C> A (p.His656Asn)single nucleotide variantLikely pathogenicrs762815611GRCh38Chr 19, 11120212: 11120212
1181LDLRNM_000527.4(LDLR): c.1968C> G (p.His656Gln)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11120214: 11120214
1182LDLRNM_000527.4(LDLR): c.1973T> C (p.Leu658Pro)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11120219: 11120219
1183LDLRNM_000527.4(LDLR): c.1975_1987+16del29deletionPathogenicGRCh38Chr 19, 11120221: 11120249
1184LDLRNM_000527.4(LDLR): c.1978C> A (p.Gln660Lys)single nucleotide variantLikely pathogenicrs193922569GRCh38Chr 19, 11120224: 11120224
1185LDLRNM_000527.4(LDLR): c.1979A> G (p.Gln660Arg)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11120225: 11120225
1186LDLRNM_000527.4(LDLR): c.1986_1987delAGinsC (p.Arg662Serfs)indelPathogenicGRCh38Chr 19, 11120232: 11120233
1187LDLRNM_000527.4(LDLR): c.1987delG (p.Gly663Glufs)deletionPathogenicGRCh38Chr 19, 11120233: 11120233
1188LDLRNM_000527.4(LDLR): c.1987+1_1987+33del33deletionLikely pathogenicGRCh38Chr 19, 11120234: 11120266
1189LDLRNM_000527.4(LDLR): c.1988-52_2006deldeletionPathogenic
1190LDLRNM_000527.4(LDLR): c.1988-2A> Tsingle nucleotide variantLikely pathogenicGRCh38Chr 19, 11120368: 11120368
1191LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11230910: 11238683
1192LDLRNM_000527.4(LDLR): c.1988G> A (p.Gly663Glu)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11120370: 11120370
1193LDLRNM_000527.4(LDLR): c.1996_2012del17 (p.Trp666Profs)deletionPathogenicGRCh38Chr 19, 11120378: 11120394
1194LDLRNM_000527.4(LDLR): c.1997G> A (p.Trp666Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11120379: 11120379
1195LDLRNM_000527.4(LDLR): c.1998delG (p.Trp666Cysfs)deletionPathogenicGRCh37Chr 19, 11231056: 11231056
1196LDLRNM_000527.4(LDLR): c.1998G> A (p.Trp666Ter)single nucleotide variantPathogenicrs752935814GRCh38Chr 19, 11120380: 11120380
1197LDLRNM_000527.4(LDLR): c.1999T> A (p.Cys667Ser)single nucleotide variantLikely pathogenicrs150021927GRCh38Chr 19, 11120381: 11120381
1198LDLRNM_000527.4(LDLR): c.1999T> C (p.Cys667Arg)single nucleotide variantLikely pathogenicrs150021927GRCh38Chr 19, 11120381: 11120381
1199LDLRNM_000527.4(LDLR): c.2000delG (p.Cys667Leufs)deletionPathogenicGRCh38Chr 19, 11120382: 11120382
1200LDLRNM_000527.4(LDLR): c.2000G> T (p.Cys667Phe)single nucleotide variantLikely pathogenicrs28942083GRCh38Chr 19, 11120382: 11120382
1201LDLRNM_000527.4(LDLR): c.2001_2007delTGAGAGG (p.Cys667Terfs)deletionPathogenicGRCh38Chr 19, 11120383: 11120389
1202LDLRNM_000527.4(LDLR): c.2001T> A (p.Cys667Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11231059: 11231059
1203LDLRNM_000527.4(LDLR): c.2001T> G (p.Cys667Trp)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11120383: 11120383
1204LDLRNM_000527.4(LDLR): c.2013_2014delCC (p.Leu672Glufs)deletionPathogenicGRCh38Chr 19, 11120395: 11120396
1205LDLRNM_000527.4(LDLR): c.2014delC (p.Leu672Terfs)deletionPathogenicGRCh38Chr 19, 11120396: 11120396
1206LDLRNM_000527.4(LDLR): c.2015delT (p.Leu672Argfs)deletionPathogenicGRCh38Chr 19, 11120397: 11120397
1207LDLRNM_000527.4(LDLR): c.2023G> A (p.Gly675Ser)single nucleotide variantLikely pathogenicrs770744861GRCh38Chr 19, 11120405: 11120405
1208LDLRNM_000527.4(LDLR): c.2026G> A (p.Gly676Ser)single nucleotide variantLikely pathogenicrs745753810GRCh38Chr 19, 11120408: 11120408
1209LDLRNM_000527.4(LDLR): c.2026G> C (p.Gly676Arg)single nucleotide variantLikely pathogenicrs745753810GRCh38Chr 19, 11120408: 11120408
1210LDLRNM_000527.4(LDLR): c.2030_2042delGCCAGTATCTGTG (p.Cys677Serfs)deletionPathogenicGRCh38Chr 19, 11120412: 11120424
1211LDLRNM_000527.4(LDLR): c.2030G> A (p.Cys677Tyr)single nucleotide variantLikely pathogenicrs875989938GRCh37Chr 19, 11231088: 11231088
1212LDLRNM_000527.4(LDLR): c.2032C> T (p.Gln678Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11120414: 11120414
1213LDLRNM_000527.4(LDLR): c.2033_2044delAGTATCTGTGCC (p.Gln678_Cys681del)deletionLikely pathogenicGRCh38Chr 19, 11120415: 11120426
1214LDLRNM_000527.4(LDLR): c.2035dupT (p.Tyr679Leufs)duplicationPathogenicGRCh38Chr 19, 11120417: 11120417
1215LDLRNM_000527.4(LDLR): c.2036dupA (p.Tyr679Terfs)duplicationPathogenicGRCh38Chr 19, 11120418: 11120418
1216LDLRNM_000527.4(LDLR): c.2037T> A (p.Tyr679Ter)single nucleotide variantPathogenicrs760436036GRCh38Chr 19, 11120419: 11120419
1217LDLRNM_000527.4(LDLR): c.2041T> A (p.Cys681Ser)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11231099: 11231099
1218LDLRNM_000527.4(LDLR): c.2041T> G (p.Cys681Gly)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11231099: 11231099
1219LDLRNM_000527.4(LDLR): c.2042G> A (p.Cys681Tyr)single nucleotide variantLikely pathogenicrs201637900GRCh38Chr 19, 11120424: 11120424
1220LDLRNM_000527.4(LDLR): c.2042G> C (p.Cys681Ser)single nucleotide variantLikely pathogenicrs201637900GRCh38Chr 19, 11120424: 11120424
1221LDLRNM_000527.4(LDLR): c.2043C> G (p.Cys681Trp)single nucleotide variantLikely pathogenicrs121908031GRCh38Chr 19, 11120425: 11120425
1222LDLRNM_000527.4(LDLR): c.2045T> C (p.Leu682Pro)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11120427: 11120427
1223LDLRNM_000527.4(LDLR): c.2046_2049delCCCT (p.Ala684Argfs)deletionPathogenicGRCh38Chr 19, 11120428: 11120431
1224LDLRNM_000527.4(LDLR): c.2050_2063delGCCCCGCAGATCAA (p.Ala684Profs)deletionPathogenicGRCh38Chr 19, 11120432: 11120445
1225LDLRNM_000527.4(LDLR): c.2050G> A (p.Ala684Thr)single nucleotide variantLikely pathogenicrs774730452GRCh37Chr 19, 11231108: 11231108
1226LDLRNM_000527.4(LDLR): c.2053C> A (p.Pro685Thr)single nucleotide variantLikely pathogenicrs2569548GRCh38Chr 19, 11120435: 11120435
1227LDLRNM_000527.4(LDLR): c.2053C> T (p.Pro685Ser)single nucleotide variantLikely pathogenicrs2569548GRCh38Chr 19, 11120435: 11120435
1228LDLRNM_000527.4(LDLR): c.2054delC (p.Pro685Argfs)deletionPathogenicGRCh38Chr 19, 11120436: 11120436
1229LDLRNM_000527.4(LDLR): c.2055_2067delGCAGATCAACCCC (p.Gln686Thrfs)deletionPathogenicGRCh38Chr 19, 11120437: 11120449
1230LDLRNM_000527.4(LDLR): c.2055delG (p.Gln686Argfs)deletionPathogenicGRCh38Chr 19, 11120437: 11120437
1231LDLRNM_000527.4(LDLR): c.2056_2068delCAGATCAACCCCC (p.Gln686Thrfs)deletionPathogenicGRCh38Chr 19, 11120438: 11120450
1232LDLRNM_000527.4(LDLR): c.2056C> T (p.Gln686Ter)single nucleotide variantPathogenicGRCh38Chr 19, 11120438: 11120438
1233LDLRNM_000527.4(LDLR): c.2060delT (p.Ile687Thrfs)deletionPathogenicGRCh38Chr 19, 11120442: 11120442
1234LDLRNM_000527.4(LDLR): c.2060dupT (p.Asn688Glnfs)duplicationPathogenicrs751228587GRCh38Chr 19, 11120442: 11120442
1235LDLRNM_000527.4(LDLR): c.2063delA (p.Asn688Thrfs)deletionPathogenicGRCh37Chr 19, 11231121: 11231121
1236LDLRNM_000527.4(LDLR): c.2063dupA (p.Asn688Lysfs)duplicationPathogenicGRCh38Chr 19, 11120445: 11120445
1237LDLRNM_000527.4(LDLR): c.2068delC (p.His690Thrfs)deletionPathogenicGRCh37Chr 19, 11231126: 11231126
1238LDLRNM_000527.4(LDLR): c.2072C> A (p.Ser691Ter)single nucleotide variantPathogenicrs369943481GRCh38Chr 19, 11120454: 11120454
1239LDLRNM_000527.4(LDLR): c.2077_2078delAA (p.Lys693Valfs)deletionPathogenicGRCh38Chr 19, 11120459: 11120460
1240LDLRNM_000527.4(LDLR): c.2080T> G (p.Phe694Val)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11231138: 11231138
1241LDLRNM_000527.4(LDLR): c.2085_2103del19 (p.Ala697Cysfs)deletionPathogenicGRCh38Chr 19, 11120467: 11120485
1242LDLRNM_000527.4(LDLR): c.2087G> A (p.Cys696Tyr)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11120469: 11120469
1243LDLRNM_000527.4(LDLR): c.2088C> A (p.Cys696Ter)single nucleotide variantPathogenicrs112954220GRCh38Chr 19, 11120470: 11120470
1244LDLRNM_000527.4(LDLR): c.2088C> G (p.Cys696Trp)single nucleotide variantLikely pathogenicrs112954220GRCh38Chr 19, 11120470: 11120470
1245LDLRNM_000527.4(LDLR): c.2089G> C (p.Ala697Pro)single nucleotide variantLikely pathogenicrs776217028GRCh37Chr 19, 11231147: 11231147
1246LDLRNM_000527.4(LDLR): c.2092delT (p.Cys698Alafs)deletionPathogenicGRCh38Chr 19, 11120474: 11120474
1247LDLRNM_000527.4(LDLR): c.2093G> A (p.Cys698Tyr)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11231151: 11231151
1248LDLRNM_000527.4(LDLR): c.2093G> T (p.Cys698Phe)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11231151: 11231151
1249LDLRNM_000527.4(LDLR): c.2096delC (p.Pro699Argfs)deletionPathogenicGRCh38Chr 19, 11120478: 11120478
1250LDLRNM_000527.4(LDLR): c.2096C> T (p.Pro699Leu)single nucleotide variantLikely pathogenicrs201573863GRCh38Chr 19, 11120478: 11120478
1251LDLRNM_000527.4(LDLR): c.2099A> G (p.Asp700Gly)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11120481: 11120481
1252LDLRNM_000527.4(LDLR): c.2100C> G (p.Asp700Glu)single nucleotide variantLikely pathogenicrs759858813GRCh38Chr 19, 11120482: 11120482
1253LDLRNM_000527.4(LDLR): c.2108_2111dupTGCT (p.Arg706Glyfs)duplicationPathogenicGRCh38Chr 19, 11120490: 11120493
1254LDLRNM_000527.4(LDLR): c.2108_2114dupTGCTGGC (p.Arg706Alafs)duplicationPathogenicGRCh37Chr 19, 11231166: 11231172
1255LDLRNM_000527.4(LDLR): c.2119G> A (p.Asp707Asn)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11231177: 11231177
1256LDLRNM_000527.4(LDLR): c.2119G> T (p.Asp707Tyr)single nucleotide variantLikely pathogenicGRCh37Chr 19, 11231177: 11231177
1257LDLRNM_000527.4(LDLR): c.2120A> T (p.Asp707Val)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11120502: 11120502
1258LDLRNM_000527.4(LDLR): c.2131T> A (p.Cys711Ser)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11120513: 11120513
1259LDLRNM_000527.4(LDLR): c.2132G> A (p.Cys711Tyr)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11120514: 11120514
1260LDLRNM_000527.4(LDLR): c.2132G> C (p.Cys711Ser)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11120514: 11120514
1261LDLRNM_000527.4(LDLR): c.2132G> T (p.Cys711Phe)single nucleotide variantLikely pathogenicGRCh38Chr 19, 11120514: 11120514
1262LDLRNM_000527.4(LDLR): c.2133C> A (p.Cys711Ter)single nucleotide variantPathogenicGRCh37Chr 19, 11231191: 11231191
1263LDLRNM_000527.4(LDLR): c.2140G> A (p.Glu714Lys)single nucleotide variantLikely pathogenicrs869320652GRCh37Chr 19, 11231198: 11231198
1264LDLRNM_000527.4(LDLR): c.2140+1G> Csingle nucleotide variantLikely pathogenicrs145787161GRCh38Chr 19, 11120523: 11120523
1265LDLRNM_000527.4(LDLR): c.2140+1G> Tsingle nucleotide variantLikely pathogenicrs145787161GRCh38Chr 19, 11120523: 11120523
1266LDLRNM_000527.4(LDLR): c.2140+2T> Asingle nucleotide variantLikely pathogenicGRCh37Chr 19, 11231200: 11231200
1267LDLRNM_000527.4(LDLR): c.2140+2T> Csingle nucleotide variantLikely pathogenicGRCh37Chr 19, 11231200: 11231200
1268LDLRNC_000019.9deletionPathogenicGRCh37Chr 19, 11231199: 11238683
1269LDLRNC_000019.9: g.(11231199_11233849)_(11244506_?)deldeletionPathogenicGRCh37Chr 19, 11231199: 11244506