MCID: ALP004
MIFTS: 68

Alport Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Ear diseases, Fetal diseases

Aliases & Classifications for Alport Syndrome

About this section
Sources:
50OMIM, 33LifeMap Discovery®, 11Disease Ontology, 46NIH Rare Diseases, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Alport Syndrome:

Name: Alport Syndrome 50 33 11 46 24 13 52 25 12 66
Alport Syndrome, X-Linked 50 46 68 48
Hemorrhagic Hereditary Nephritis 46 24 66
Hereditary Nephritis 11 24 66
Congenital Hereditary Hematuria 46 24
Hemorrhagic Familial Nephritis 46 24
Hereditary Familial Congenital Hemorrhagic Nephritis 24
Hematuria-Nephropathy-Deafness Syndrome 24
Hereditary Interstitial Pyelonephritis 24
 
Hematuric Hereditary Nephritis 24
Hereditary Hematuria Syndrome 24
Alport Deafness-Nephropathy 52
Nephritis-Deafness Syndrome 68
Nephropathy and Deafness 68
X-Linked Alport Syndrome 52
Nephritis, Hereditary 37
Alports Syndrome 48
Apsx 68

Characteristics:

Orphanet epidemiological data:

52
alport syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood
x-linked alport syndrome:
Inheritance: X-linked dominant; Age of onset: Childhood

HPO:

62
alport syndrome:
Inheritance: x-linked dominant inheritance, heterogeneous
Onset and clinical course: progressive


Classifications:



External Ids:

OMIM50 301050
Disease Ontology11 DOID:10983
MeSH37 D009394
SNOMED-CT60 399340005, 57333009
UMLS via Orphanet67 C1567741, C1567742
ICD10 via Orphanet29 Q87.8
MESH via Orphanet38 D009394

Summaries for Alport Syndrome

About this section
OMIM:50 Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to... (301050) more...

MalaCards based summary: Alport Syndrome, also known as alport syndrome, x-linked, is related to alport syndrome, autosomal dominant and alport syndrome, autosomal recessive, and has symptoms including sensorineural hearing impairment, retinopathy and glomerulopathy. An important gene associated with Alport Syndrome is COL4A5 (Collagen Type IV Alpha 5 Chain), and among its related pathways are Platelet Aggregation Inhibitor Pathway, Pharmacodynamics and NCAM1 interactions. Affiliated tissues include kidney, eye and skin, and related mouse phenotypes are hearing/vestibular/ear and renal/urinary system.

Disease Ontology:11 A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss.

Genetics Home Reference:24 Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.

NIH Rare Diseases:46 Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. people with alport syndrome also frequently develop sensorineural hearing loss in late childhood or early adolescence. the eye abnormalities seen in this condition seldom lead to vision loss. in 80% of cases, alport syndrome is inherited in an x-linked manner and is caused by mutations in the col4a5 gene. in the remaining cases, it may be inherited in either an autosomal recessive or autosomal dominant manner and caused by mutations in the col4a3 or col4a4 genes. treatment may include use of a hearing aid; hemodialysis and peritoneal dialysis to treat those with end-stage renal failure; and kidney transplantation. last updated: 8/1/2013

UniProtKB/Swiss-Prot:68 Alport syndrome, X-linked: A syndrome that is characterized by progressive glomerulonephritis, renal failure, sensorineural deafness, specific eye abnormalities (lenticonous and macular flecks), and glomerular basement membrane defects. The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness.

Wikipedia:69 Alport syndrome is a genetic disorder affecting around 1 in 50,000 children, characterized by... more...

Related Diseases for Alport Syndrome

About this section

Diseases in the Alport Syndrome family:

Alport Syndrome, Autosomal Recessive Alport Syndrome, Autosomal Dominant

Diseases related to Alport Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1alport syndrome, autosomal dominant33.9COL4A3, COL4A4
2alport syndrome, autosomal recessive33.6COL4A3, COL4A4, COL4A5
3hematuria, benign familial30.1COL4A3, COL4A4, COL4A5
4alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis12.2
5alport syndrome and thin basement membrane nephropathy12.1
6x-linked diffuse leiomyomatosis-alport syndrome11.9
7epstein syndrome11.6
8fechtner syndrome11.4
9leiomyomatosis, esophageal and vulval, with nephropathy11.1
10leiomyomatosis10.5
11early-onset generalized limb-onset dystonia10.4COL4A5, COL4A6
12eosinophilic fasciitis10.4COL4A3, COL4A5
13membranous nephropathy10.3
14renal cell carcinoma, papillary10.3
15multiple sclerosis, disease progression, modifier of10.3
16lymphoplasmacytic lymphoma10.2COL4A3, COL4A5
17esophagitis10.2
18autosomal dominant nocturnal frontal lobe epilepsy10.2COL4A3, COL4A4, COL4A5
19corneal endothelial dystrophy 1, autosomal dominant10.2COL4A3, COL4A4
20malignant germ cell tumor10.2COL4A1, COL4A5
21hyperimmunoglobulin syndrome10.2COL4A5, MYH9
22retinitis10.1
23macular holes10.1
24kidney disease10.1
25capillary disease10.0COL4A5, COL4A6
26cataract10.0
27glomerulonephritis10.0
28premature ovarian failure, familial10.0COL4A1, COL4A2
29gustavson syndrome10.0ACSL4, AMMECR1, COL4A5
30primary pigmented nodular adrenocortical disease9.9COL4A1, COL4A2
31may-hegglin anomaly9.9
32sebastian syndrome9.9
33nephrocalcinosis9.9
34end stage renal failure9.9
35focal segmental glomerulosclerosis9.9
36glomerulosclerosis9.9
37renal fibrosis9.9
38peritonitis9.9
39polycystic kidney disease9.9
40retinal arteries, tortuosity of9.9COL4A1, COL4A2
41acute salpingo-oophoritis9.8COL4A1, COL4A2
42vulvar leiomyoma9.8COL4A3, COL4A4, COL4A5, COL4A6
43exocrine pancreatic insufficiency9.8COL4A5, MYH9
44keratitis9.7
45frasier syndrome9.7
46retinoschisis9.7
47herpes simplex virus keratitis9.7
48hemorrhagic fever with renal syndrome9.7
49choroiditis9.7
50horner's syndrome9.7

Graphical network of the top 20 diseases related to Alport Syndrome:



Diseases related to alport syndrome

Symptoms for Alport Syndrome

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Symptoms by clinical synopsis from OMIM:

301050

Clinical features from OMIM:

301050

Symptoms:

 52 (show all 33)
  • renal insufficiency
  • proteinuria
  • nephrotic syndrome
  • tinnitus
  • sensorineural hearing impairment
  • retinopathy
  • cataract
  • myopia
  • photophobia
  • hematuria
  • hypertension
  • dry skin
  • pallor
  • corneal dystrophy
  • subcutaneous nodule
  • weight loss
  • thrombocytopenia
  • leukopenia
  • vomiting
  • dysphagia
  • dyspnea
  • headache
  • abdominal situs inversus
  • diffuse leiomyomatosis
  • macular dystrophy
  • edema of the lower limbs
  • uterine neoplasm
  • morphological abnormality of the semicircular canal
  • lentiglobus
  • fatigue
  • neoplasm of the colon
  • periorbital edema
  • glomerulopathy

HPO human phenotypes related to Alport Syndrome:

(show all 45)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 retinopathy hallmark (90%) HP:0000488
3 glomerulopathy hallmark (90%) HP:0100820
4 renal insufficiency typical (50%) HP:0000083
5 proteinuria typical (50%) HP:0000093
6 nephrotic syndrome typical (50%) HP:0000100
7 tinnitus typical (50%) HP:0000360
8 cataract typical (50%) HP:0000518
9 hypertension typical (50%) HP:0000822
10 dry skin typical (50%) HP:0000958
11 pallor typical (50%) HP:0000980
12 weight loss typical (50%) HP:0001824
13 migraine typical (50%) HP:0002076
14 respiratory insufficiency typical (50%) HP:0002093
15 aplasia/hypoplasia of the lens typical (50%) HP:0008063
16 edema of the lower limbs typical (50%) HP:0010741
17 periorbital edema typical (50%) HP:0100539
18 aseptic leukocyturia typical (50%) HP:0100586
19 myopia occasional (7.5%) HP:0000545
20 photophobia occasional (7.5%) HP:0000613
21 abnormality of the macula occasional (7.5%) HP:0001103
22 corneal dystrophy occasional (7.5%) HP:0001131
23 thrombocytopenia occasional (7.5%) HP:0001873
24 nausea and vomiting occasional (7.5%) HP:0002017
25 abdominal situs inversus occasional (7.5%) HP:0003363
26 feeding difficulties in infancy occasional (7.5%) HP:0008872
27 uterine neoplasm occasional (7.5%) HP:0010784
28 sarcoma occasional (7.5%) HP:0100242
29 neoplasm of the colon occasional (7.5%) HP:0100273
30 proteinuria HP:0000093
31 nephrotic syndrome HP:0000100
32 nephritis HP:0000123
33 sensorineural hearing impairment HP:0000407
34 congenital cataract HP:0000519
35 myopia HP:0000545
36 hypertension HP:0000822
37 hypoparathyroidism HP:0000829
38 thrombocytopenia HP:0001873
39 microscopic hematuria HP:0002907
40 stage 5 chronic kidney disease HP:0003774
41 diffuse leiomyomatosis HP:0006756
42 ichthyosis HP:0008064
43 anterior lenticonus HP:0011501
44 diffuse glomerular basement membrane lamellation HP:0030034
45 corneal erosion HP:0200020

Drugs & Therapeutics for Alport Syndrome

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Drugs for Alport Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
protease inhibitorsPhase 3, Phase 25157
Synonyms:
 
protease inhibitors
2
RamiprilPhase 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
3
ValsartanPhase 2280137862-53-460846
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
4
FluvastatinPhase 25893957-54-11548972
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
5
angiotensin IIPhase 2113568521-88-0, 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
6
BenazeprilPhase 24586541-75-55362124
Synonyms:
2-[(3S)-3-[[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino]-2-oxo-4,5-dihydro-3H-1-benzazepin-1-yl]acetic acid
86541-75-5
AC1NSFPL
BIDD:GT0800
BRD-K49807096-003-02-3
BSPBio_003487
Benazepril
Benazepril (INN)
Benazepril HCl
Benazepril Hydrochloride
Benazepril Sandoz
Benazepril Sandoz (TN)
Benazepril [INN:BAN]
Benazeprilum
Benazeprilum [Latin]
Briem
C06843
CGS-14824-A
CHEBI:3011
CHEMBL838
CID5362124
Cibacen
Cibacene
D07499
DB00542
 
Forteekor [veterinary]
Forteekor [veterinary] (TN)
KBio2_002457
KBio2_005025
KBio2_007593
KBio3_002707
KBioGR_000812
KBioSS_002464
LS-27973
Lotensin
NCGC00165740-01
NCGC00165740-02
SPBio_000343
STK627447
Spectrum2_000482
Spectrum3_001674
Spectrum4_000286
Spectrum5_001546
Spectrum_001922
UNII-UDM7Q7QWP8
[(3S)-3-({(1S)-1-[(ethyloxy)carbonyl]-3-phenylpropyl}amino)-2-oxo-2,3,4,5-tetrahydro-1H-1-benzazepin-1-yl]acetic acid
[(3S)-3-{[(1S)-1-(ethoxycarbonyl)-3-phenylpropyl]amino}-2-oxo-2,3,4,5-tetrahydro-1H-1-benzazepin-1-yl]acetic acid
[(3S)-3-{[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino}-2-oxo-2,3,4,5-tetrahydro-1H-1-benzazepin-1-yl]acetic acid
benazapril
benazepril
benzazepril
7
RiboflavinNutraceuticalPhase 215883-88-5493570
Synonyms:
(-)-Riboflavin
1-Deoxy-1-(3,4-dihydro-7,8-dimethyl-2,4-dioxobenzo[g]pteridin-10(2H)-yl)-D-ribitol
1-Deoxy-1-(7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl)pentitol
6,7-Dimethyl-9-D-ribitylisoalloxazine
6,7-Dimethyl-9-ribitylisoalloxazine
7,8-Dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)-Benzo[g]pteridine-2,4(3H,10H)-dione
7,8-Dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)isoalloxazine
7,8-Dimethyl-10-ribitylisoalloxazine
Beflavin
Beflavine
Benzo[g]pteridine riboflavin deriv.
E 101
E101
Flavaxin
Flavin BB
Flaxain
Food Yellow 15
 
Hyre
Lactobene
Lactoflavin
Lactoflavine
Ribipca
Ribocrisina
Riboderm
Riboflavina
Riboflavine
Riboflavinum
Ribosyn
Ribotone
Ribovel
Russupteridine yellow III
San Yellow B
Vitaflavine
Vitamin B2
Vitamin G
Vitasan B2
8
Enalapril11775847-73-35362032, 40466924
Synonyms:
(2S)-1-[(2S)-2-[[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid
(S)-1-(N-(1-(Ethoxycarbonyl)-3-phenylpropyl)-L-alanyl)-L-proline
(S)-1-{(S)-2-[1-((S)-ethoxycarbonyl)-3-phenyl-propylamino]-propionyl}-pyrrolidine-2-carboxylic acid
1-(N-((S)-1-Carboxy-3-phenylpropyl)-L-alanyl)-L-proline 1'-ethyl ester
75847-73-3
AC1NTUS5
Analapril
BIDD:GT0751
BPBio1_000340
BSPBio_000308
BSPBio_003035
Bonuten
C06977
CAS-76095-16-4
CHEBI:116847
CHEBI:4784
CHEMBL578
CID5388962
D07892
DivK1c_000408
Enalapril
Enalapril (INN)
Enalapril (TN)
Enalapril Bp
Enalapril Maleate
Enalapril Richet
Enalaprila
Enalaprila [INN-Spanish]
Enalaprilat
Enalaprilum
 
Enalaprilum [INN-Latin]
Gadopril
HMS2090E08
IDI1_000408
KBio1_000408
KBio2_001787
KBio2_004355
KBio2_006923
KBio3_002535
KBioGR_000355
KBioSS_001787
Kinfil
LS-190651
MolPort-002-885-877
N-[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]-L-alanyl-L-proline
N-{(1S)-1-[(ethyloxy)carbonyl]-3-phenylpropyl}-L-alanyl-L-proline
NCGC00016932-01
NCGC00021569-04
NCGC00021569-05
NCGC00021569-06
NINDS_000408
Prestwick3_000314
SPBio_001349
Spectrum2_001455
Spectrum3_001478
Spectrum4_000008
Spectrum5_001107
Spectrum_001307
Vaseretic
Vasotec
Vasotec IV
enalapril
9
Enalaprilat11776420-72-96917719
Synonyms:
(2S)-1-[(2S)-2-[[(2S)-1-hydroxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid
(2S)-1-[(2S)-2-[[(2S)-1-hydroxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid dihydrate
1-((2S)-2-{[(1S)-1-CARBOXY-3-PHENYLPROPYL]AMINO}PROPANOYL)-L-PROLINE
1-(N-((S)-1-Carboxy-3-phenylpropyl)-L-alanyl)-L-proline dihydrate
76420-72-9
AC1NUWEA
AC1OCEK7
BIDD:GT0752
C11720
C18H24N2O5.2H2O
CHEBI:116759
CHEBI:42302
CHEBI:4786
CHEBI:59877
CHEMBL1200697
CHEMBL577
CID5462501
CID6917719
CPD000466359
D03769
EAL
ENALAPRILAT INHIBITOR
Enalapril acid
Enalapril diacid
Enalaprilat
Enalaprilat (USP)
 
Enalaprilat anhydrous
Enalaprilate
Enalaprilatum
Enalaprilic acid
Enalprilate hydrate
HMS2051H16
HMS2089P04
LS-118903
LS-187219
MK-422
MLS000759476
MLS001424138
MolPort-005-943-792
N-[(1S)-1-Carboxy-3-phenylpropyl]-L-alanyl-L-proline
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline--water (1/2)
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline—water (1/2)
NCGC00164593-01
S1657_Selleck
SAM001246684
SBB065733
SMR000466359
Vasotec I.V.
enalaprilat dihydrate
enalaprilat hydrate
enalprilat hydrate
enalprilate hydrate
10
Cyclophosphamide275650-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Anhydrous cyclophosphamide
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
 
DB00531
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
11Alkylating Agents4573
12diuretics1338
13
Spironolactone2171952-01-7, 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

Interventional clinical trials:

(show all 16)
idNameStatusNCT IDPhase
1Efficacy and Safety Study to Delay Renal Failure in Children With Alport SyndromeRecruitingNCT01485978Phase 3
2Effects of an Intensified Treatment With ACE-I,ATA II and Statins in Alport SyndromeCompletedNCT00309257Phase 2
3Study of Weekly RG-012 Injections in Patients With Alport SyndromeRecruitingNCT02855268Phase 2
4A Prospective Study of Microalbuminuria in Untreated Boys With Alport SyndromeCompletedNCT00622544
5Urinary Biomarkers of the Progression of Alport Kidney DiseaseCompletedNCT01705132
6Enalapril in Collagen Type 4 NephropathyCompletedNCT01465126
7Hereditary Tubulointerstitial NephritisCompletedNCT01312727
8Biomarker for Patient With Alport Disease or Highly Suspected for Alport DiseaseRecruitingNCT02718027
9Alport Syndrome Treatments and Outcomes RegistryRecruitingNCT00481130
10ATHENA: Natural History of Disease Study in Alport Syndrome PatientsRecruitingNCT02136862
11European Alport Therapy Registry - European Initiative Towards Delaying Renal Failure in Alport SyndromeRecruitingNCT02378805
12Aluminum and Auditory Function in ESRDRecruitingNCT00243958
13Cyclophosphamide in Lupus NephritisRecruitingNCT00441220
14Genetic Causes of FSGS, Nephrotic Syndrome, or Kidney FailureRecruitingNCT02194582
15Multi-center Controlled Clinical Trials in Alport Syndrome-A Feasibility StudyActive, not recruitingNCT01696253
16Human Urine Sample Collection for Alport Nephropathy Biomarker StudiesTerminatedNCT01602835

Search NIH Clinical Center for Alport Syndrome


Cochrane evidence based reviews: nephritis, hereditary

Genetic Tests for Alport Syndrome

About this section

Genetic tests related to Alport Syndrome:

id Genetic test Affiliating Genes
1 Alport Syndrome25

Anatomical Context for Alport Syndrome

About this section

MalaCards organs/tissues related to Alport Syndrome:

34
Kidney, Eye, Skin, Testes, Smooth muscle, Colon, Bone

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

Cells/anatomical compartments in embryo or adult related to Alport Syndrome:
id TissueAnatomical CompartmentCell Relevance
1 KidneyPodocyte LayerPodocytes Potential therapeutic candidate, affected by disease
2 KidneyGlomerular Basement Membrane  Affected by disease

Animal Models for Alport Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Alport Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.2COL4A3, COL4A4, LAMA5, MYH9
2MP:00053677.9COL4A1, COL4A3, COL4A4, COL4A5, LAMA5, MYH9
3MP:00053977.1ACSL4, COL4A1, COL4A2, COL4A3, COL4A5, LAMA5
4MP:00053856.8ACSL4, COL4A1, COL4A2, COL4A3, COL4A5, LAMA5
5MP:00053916.8COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, LAMA5
6MP:00107686.6ACSL4, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5

Publications for Alport Syndrome

About this section

Articles related to Alport Syndrome:

(show top 50)    (show all 528)
idTitleAuthorsYear
1
Human Chorionic Stem Cells: Podocyte Differentiation and Potential for the Treatment of Alport Syndrome. (26728561)
2016
2
An Overlapping Case of Alport Syndrome and Thin Basement Membrane Disease. (27635185)
2016
3
Albumin contributes to kidney disease progression in Alport syndrome. (27147675)
2016
4
Preclinical Alterations in the Serum of COL(IV)A3(-)/(-) Mice as Early Biomarkers of Alport Syndrome. (26487288)
2015
5
Delayed diagnosis of Alport syndrome without hematuria. (24878952)
2014
6
End-stage kidney disease due to Alport syndrome: outcomes in 296 consecutive Australia and New Zealand Dialysis and Transplant Registry cases. (25061124)
2014
7
Alport syndrome in a Kazakh family: a case study. (25572247)
2014
8
Clinical and genetic features in autosomal recessive and X-linked Alport syndrome. (24178893)
2013
9
Cyclosporin A may cause injury to undifferentiated glomeruli persisting in patients with Alport syndrome. (23828692)
2013
10
Clear lens phacoemulsification in Alport syndrome: refractive results and electron microscopic analysis of the anterior lens capsule. (24170525)
2013
11
An update on the pathomechanisms and future therapies of Alport syndrome. (22903660)
2013
12
Safety and Efficacy of the ACE-Inhibitor Ramipril in Alport Syndrome: The Double-Blind, Randomized, Placebo-Controlled, Multicenter Phase III EARLY PRO-TECT Alport Trial in Pediatric Patients. (22811928)
2012
13
Clinical utility gene card for: Alport syndrome. (22166944)
2012
14
Early lamellar macular hole in Alport syndrome: case report and review of the literature. (22338558)
2012
15
Aortic abnormalities in males with Alport syndrome. (20494893)
2010
16
Progressive posterior lenticonus in a patient with alport syndrome. (21180444)
2010
17
Molecular testing for adult type Alport syndrome. (19919694)
2009
18
Alport syndrome. (21141008)
2009
19
Is anterior lenticonus the most common ocular finding in Alport syndrome? (18165055)
2008
20
Diagnosis of Alport syndrome without biopsy? (17143627)
2007
21
Cyclosporin therapy in patients with Alport syndrome. (17024394)
2007
22
Alport syndrome and pregnancy. (17267885)
2007
23
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families. (16338941)
2006
24
Gene expression analysis in a canine model of X-linked Alport syndrome. (16964446)
2006
25
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. (15086897)
2004
26
Symmetrical reduced retinal thickness in a patient with Alport syndrome. (15580004)
2004
27
Epidermal basement membrane alpha 5(IV) expression in females with Alport syndrome and severity of renal disease. (14531812)
2003
28
Novel COL4A4 splice defect and in-frame deletion in a large consanguine family as a genetic link between benign familial haematuria and autosomal Alport syndrome. (12748344)
2003
29
Quantitative trait loci influence renal disease progression in a mouse model of Alport syndrome. (11839593)
2002
30
A new point mutation in the COL4A5 gene described in a Spanish family with X-linked Alport syndrome. (11961405)
2002
31
Segregation of hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome. (11318937)
2001
32
Bilateral anterior lenticonus: Scheimpflug imaging system documentation and ultrastructural confirmation of Alport syndrome in the lens capsule. (10900100)
2000
33
Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME). (10049589)
1999
34
Methodology for analyzing censored correlated data: application of marginal and frailty approaches in human genetics. The European Community Alport Syndrome Concerted Action Group (ECASCA)]. (10673588)
1999
35
Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome. (9452056)
1998
36
FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. (9480748)
1998
37
Recent advances in Alport syndrome: the cross-fertilisation between genetics and clinical medicine. (9351295)
1997
38
A mutation causing Alport syndrome with tardive hearing loss is common in the western United States. (8651292)
1996
39
Molecular and functional defects in kidneys of mice lacking collagen alpha 3(IV): implications for Alport syndrome. (8947561)
1996
40
X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. (8651296)
1996
41
Identification of post-transplant anti-alpha 5 (IV) collagen alloantibodies in X-linked Alport syndrome. (8918711)
1996
42
New approaches to the DNA diagnosis of Alport syndrome. (8801046)
1996
43
Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome. (8599366)
1995
44
Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients. (7599631)
1995
45
Comparative distribution of the alpha 1(IV), alpha 5(IV), and alpha 6(IV) collagen chains in normal human adult and fetal tissues and in kidneys from X-linked Alport syndrome patients. (7560087)
1995
46
Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome. (8162029)
1994
47
De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome. (1363780)
1992
48
The pathogenesis of Alport syndrome involves type IV collagen molecules containing the alpha 3(IV) chain: evidence from anti-GBM nephritis after renal transplantation. (1635348)
1992
49
Genetic heterogeneity among kindreds with Alport syndrome. (3728466)
1986
50
The pathology of the kidney in the Alport syndrome. (4470885)
1974

Variations for Alport Syndrome

About this section

UniProtKB/Swiss-Prot genetic disease variations for Alport Syndrome:

68 (show all 145)
id Symbol AA change Variation ID SNP ID
1COL4A5p.Gly54AspVAR_001914
2COL4A5p.Gly129GluVAR_001915
3COL4A5p.Gly129ValVAR_001916
4COL4A5p.Gly174ArgVAR_001917
5COL4A5p.Gly177ArgVAR_001918
6COL4A5p.Gly216ArgVAR_001919
7COL4A5p.Gly219SerVAR_001920
8COL4A5p.Gly289ValVAR_001921
9COL4A5p.Gly292ValVAR_001922
10COL4A5p.Gly325GluVAR_001923
11COL4A5p.Gly325ArgVAR_001924
12COL4A5p.Gly365GluVAR_001925
13COL4A5p.Gly371GluVAR_001927
14COL4A5p.Gly374AlaVAR_001928
15COL4A5p.Gly383AspVAR_001929
16COL4A5p.Gly400GluVAR_001930
17COL4A5p.Gly406ValVAR_001931
18COL4A5p.Gly409AspVAR_001932
19COL4A5p.Gly466GluVAR_001936
20COL4A5p.Gly494AspVAR_001937
21COL4A5p.Gly521CysVAR_001939
22COL4A5p.Gly521SerVAR_001940
23COL4A5p.Gly567AlaVAR_001941
24COL4A5p.Gly609ValVAR_001942
25COL4A5p.Gly638ValVAR_001943
26COL4A5p.Gly638AlaVAR_001944
27COL4A5p.Gly653ArgVAR_001945
28COL4A5p.Gly684ValVAR_001947
29COL4A5p.Gly740GluVAR_001948
30COL4A5p.Gly772AspVAR_001949
31COL4A5p.Gly796ArgVAR_001950
32COL4A5p.Gly852ArgVAR_001951
33COL4A5p.Gly866GluVAR_001952
34COL4A5p.Gly869ArgVAR_001953
35COL4A5p.Gly872ArgVAR_001954
36COL4A5p.Gly1104ValVAR_001956
37COL4A5p.Gly1143AspVAR_001957
38COL4A5p.Gly1143SerVAR_001958
39COL4A5p.Gly1182ArgVAR_001959
40COL4A5p.Gly1241CysVAR_001960
41COL4A5p.Gly1270SerVAR_001961
42COL4A5p.Gly1379ValVAR_001962
43COL4A5p.Arg1410CysVAR_001963
44COL4A5p.Gly1421TrpVAR_001964
45COL4A5p.Arg1422CysVAR_001965
46COL4A5p.Gly1451SerVAR_001966
47COL4A5p.Ala1498AspVAR_001967
48COL4A5p.Pro1517ThrVAR_001968
49COL4A5p.Trp1538SerVAR_001969
50COL4A5p.Arg1563GlnVAR_001970
51COL4A5p.Cys1564SerVAR_001971
52COL4A5p.Gly1596AspVAR_001972
53COL4A5p.Leu1649ArgVAR_001973
54COL4A5p.Arg1677GlnVAR_001974
55COL4A5p.Gly114SerVAR_007991
56COL4A5p.Gly331ValVAR_007992
57COL4A5p.Gly472ArgVAR_007993
58COL4A5p.Gly545ArgVAR_007994
59COL4A5p.Gly545ValVAR_007995
60COL4A5p.Gly561ArgVAR_007996
61COL4A5p.Gly579ArgVAR_007997
62COL4A5p.Gly635AspVAR_007998
63COL4A5p.Gly638SerVAR_007999
64COL4A5p.Gly669AlaVAR_008000
65COL4A5p.Gly687GluVAR_008001
66COL4A5p.Gly743AspVAR_008002
67COL4A5p.Gly808GluVAR_008003
68COL4A5p.Gly852GluVAR_008005
69COL4A5p.Gly878ArgVAR_008006
70COL4A5p.Gly1107ArgVAR_008008
71COL4A5p.Gly1161ArgVAR_008009
72COL4A5p.Gly1211ArgVAR_008010
73COL4A5p.Gly1220AspVAR_008011
74COL4A5p.Gly1333SerVAR_008012
75COL4A5p.Gly1427ValVAR_008013
76COL4A5p.Gly1442AspVAR_008014
77COL4A5p.Gly1486AlaVAR_008015
78COL4A5p.Gly177CysVAR_011220
79COL4A5p.Gly192ArgVAR_011221
80COL4A5p.Gly204ValVAR_011222
81COL4A5p.Gly230ArgVAR_011223
82COL4A5p.Gly239GluVAR_011224
83COL4A5p.Gly264ArgVAR_011225
84COL4A5p.Gly292ArgVAR_011226
85COL4A5p.Gly295AspVAR_011227
86COL4A5p.Gly298SerVAR_011228
87COL4A5p.Gly319ArgVAR_011229
88COL4A5p.Gly412ValVAR_011230
89COL4A5p.Gly415ArgVAR_011231
90COL4A5p.Gly420GluVAR_011232
91COL4A5p.Gly420ValVAR_011233
92COL4A5p.Gly423GluVAR_011234
93COL4A5p.Gly491GluVAR_011235
94COL4A5p.Gly497CysVAR_011236
95COL4A5p.Gly524AspVAR_011237
96COL4A5p.Gly558ArgVAR_011238
97COL4A5p.Gly573AspVAR_011239
98COL4A5p.Gly579GluVAR_011240
99COL4A5p.Gly603ValVAR_011241
100COL4A5p.Gly609ArgVAR_011242
101COL4A5p.Gly621CysVAR_011244
102COL4A5p.Gly624AspVAR_011245
103COL4A5p.Gly629AspVAR_011246
104COL4A5p.Gly632AspVAR_011247
105COL4A5p.Glu633LysVAR_011248
106COL4A5p.Gly681AspVAR_011249
107COL4A5p.Gly722GluVAR_011250
108COL4A5p.Pro739SerVAR_011252rs104886164
109COL4A5p.Gly802ArgVAR_011253
110COL4A5p.Gly811ValVAR_011255
111COL4A5p.Gly822ArgVAR_011256
112COL4A5p.Met898ValVAR_011258
113COL4A5p.Gly902ValVAR_011259
114COL4A5p.Gly911GluVAR_011260
115COL4A5p.Gly941CysVAR_011261
116COL4A5p.Gly947AspVAR_011262
117COL4A5p.Gly953ValVAR_011263rs78972735
118COL4A5p.Gly1006AlaVAR_011264
119COL4A5p.Gly1006ValVAR_011265
120COL4A5p.Gly1015GluVAR_011266
121COL4A5p.Gly1015ValVAR_011267
122COL4A5p.Gly1030SerVAR_011268
123COL4A5p.Gly1036ValVAR_011269
124COL4A5p.Gly1039SerVAR_011270
125COL4A5p.Gly1045GluVAR_011271
126COL4A5p.Gly1066ArgVAR_011272
127COL4A5p.Gly1066SerVAR_011273
128COL4A5p.Gly1086AspVAR_011274
129COL4A5p.Gly1158ArgVAR_011275
130COL4A5p.Gly1167SerVAR_011276
131COL4A5p.Gly1170SerVAR_011277
132COL4A5p.Gly1196ArgVAR_011278
133COL4A5p.Gly1205CysVAR_011279
134COL4A5p.Gly1211GluVAR_011280
135COL4A5p.Gly1229AspVAR_011281
136COL4A5p.Gly1244AspVAR_011282
137COL4A5p.Gly1252SerVAR_011283
138COL4A5p.Gly1261GluVAR_011284
139COL4A5p.Gly1357SerVAR_011285
140COL4A5p.Ser1488PheVAR_011287
141COL4A5p.Arg1511HisVAR_011288
142COL4A5p.Cys1567ArgVAR_011289
143COL4A5p.Arg1677ProVAR_011290
144COL4A5p.Cys1678TrpVAR_011291
145COL4A5p.Gly123GluVAR_071932

Clinvar genetic disease variations for Alport Syndrome:

5 (show all 616)
id Gene Variation Type Significance SNP ID Assembly Location
1COL4A5COL4A5, EX5-10DELdeletionPathogenic
2COL4A5COL4A5, CYS108SERsingle nucleotide variantPathogenic
3COL4A5COL4A5, 10-15-KB INS, 40-KB DELindelPathogenic
4COL4A5COL4A5, 450-KB DELdeletionPathogenic
5COL4A5COL4A5, 38-KB DELdeletionPathogenic
6COL4A5NM_000495.4(COL4A5): c.3428G> A (p.Gly1143Asp)single nucleotide variantPathogenicrs104886229GRCh37Chr X, 107908791: 107908791
7COL4A5COL4A5, 3-PRIME AND PARTIAL 5-PRIME DELETIONdeletionPathogenic
8COL4A5NM_000495.4(COL4A5): c.1561G> T (p.Gly521Cys)single nucleotide variantPathogenicrs104886121GRCh37Chr X, 107840272: 107840272
9COL4A5NM_000495.4(COL4A5): c.974G> A (p.Gly325Glu)single nucleotide variantPathogenicrs104886091GRCh37Chr X, 107826151: 107826151
10COL4A5NM_000495.4(COL4A5): c.866G> T (p.Gly289Val)single nucleotide variantPathogenicrs104886450GRCh37Chr X, 107823943: 107823943
11COL4A5NM_000495.4(COL4A5): c.161G> A (p.Gly54Asp)single nucleotide variantPathogenicrs104886043GRCh37Chr X, 107802313: 107802313
12COL4A5NM_000495.4(COL4A5): c.4946T> G (p.Leu1649Arg)single nucleotide variantPathogenicrs104886303GRCh37Chr X, 107938639: 107938639
13COL4A5NM_000495.4(COL4A5): c.5030G> A (p.Arg1677Gln)single nucleotide variantPathogenicrs104886308GRCh37Chr X, 107939580: 107939580
14COL4A5NM_000495.4(COL4A5): c.1844G> A (p.Gly615Glu)single nucleotide variantPathogenicrs794727397GRCh37Chr X, 107841996: 107841996
15COL4A5NM_000495.4(COL4A5): c.3998-1G> Asingle nucleotide variantPathogenicrs797045035GRCh37Chr X, 107924114: 107924114
16COL4A5NM_033380.2(COL4A5): c.1780-1G> Tsingle nucleotide variantPathogenicrs104886338GRCh37Chr X, 107841931: 107841931
17COL4A5NM_033380.2(COL4A5): c.1033-6A> Gsingle nucleotide variantLikely pathogenicrs869025330GRCh37Chr X, 107829839: 107829839
18COL4A5NM_033380.2(COL4A5): c.2395+1G> Asingle nucleotide variantPathogenicrs869025331GRCh37Chr X, 107850123: 107850123
19COL4A5NM_033380.2(COL4A5): c.2741G> A (p.Gly914Asp)single nucleotide variantPathogenicrs869025332GRCh37Chr X, 107865096: 107865096
20COL4A5NM_033380.2(COL4A5): c.82G> T (p.Ala28Ser)single nucleotide variantPathogenicrs869025333GRCh37Chr X, 107782976: 107782976
21COL4A5NM_033380.2(COL4A5): c.1010G> T (p.Gly337Val)single nucleotide variantPathogenicrs869025334GRCh37Chr X, 107827733: 107827733
22COL4A5NM_000495.4(COL4A5): c.81+1G> Csingle nucleotide variantPathogenicrs281874765GRCh37Chr X, 107683437: 107683437
23COL4A5NM_000495.4(COL4A5): c.1542_1543delAG (p.Glu516Lysfs)deletionPathogenicrs104886333GRCh37Chr X, 107840253: 107840254
24NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)deldeletionPathogenicGRCh37Chr X, 107681416: 107683436
25NM_033380.2(COL4A5): c.(?_-129378)_(81_?)del (p.?)deletionPathogenicGRCh38Chr X, 108310748: 108440206
26COL4A5NM_000495.3(COL4A5): c.1-?_81+?deldeletionPathogenic
27NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)deldeletionPathogenicGRCh37Chr X, 107681416: 107683436
28NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)deldeletionPathogenicGRCh37Chr X, 107681416: 107683436
29NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)deldeletionPathogenicGRCh37Chr X, 107681416: 107683436
30COL4A5NM_000495.4(COL4A5): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs104886050GRCh37Chr X, 107683356: 107683356
31COL4A5NP_203699.1: p.?deletionPathogenic
32COL4A5NP_203699.1: p.?deletionPathogenic
33COL4A5NP_203699.1: p.?deletionPathogenic
34COL4A5NP_203699.1: p.?deletionPathogenic
35COL4A5NP_203699.1: p.?deletionPathogenic
36COL4A5NP_203699.1: p.?deletionPathogenic
37COL4A5NP_203699.1: p.?deletionPathogenic
38COL4A5NM_000495.3(COL4A5): c.1-?_5058+?deldeletionPathogenic
39COL4A5NM_000495.4(COL4A5): c.2_3delTG (p.Met1Lysfs)deletionPathogenicrs104886376GRCh37Chr X, 107683357: 107683358
40COL4A5NM_000495.4(COL4A5): c.13G> T (p.Gly5Ter)single nucleotide variantPathogenicrs104886049GRCh37Chr X, 107683368: 107683368
41COL4A5NM_000495.4(COL4A5): c.38_41dupTCTT (p.Leu14Phefs)duplicationPathogenicrs104886408GRCh37Chr X, 107683393: 107683396
42COL4A5NM_000495.4(COL4A5): c.49_50delCT (p.Leu17Glufs)deletionPathogenicrs104886427GRCh37Chr X, 107683404: 107683405
43COL4A5NM_000495.4(COL4A5): c.65_77delAGCCTGCAGAGGC (p.Gln22Leufs)deletionPathogenicrs281874760GRCh37Chr X, 107683420: 107683432
44COL4A5NP_203699.1: p.Ala28_Lys1082dupduplicationPathogenic
45COL4A5NM_000495.4(COL4A5): c.82-?_465+?deldeletionPathogenic
46COL4A5NM_000495.4(COL4A5): c.82-?_1165+?deldeletionPathogenicGRCh37Chr X, 107782976: 107829977
47COL4A5NM_000495.4(COL4A5): c.82-?_3246+?deldeletionPathogenicGRCh37Chr X, 107782976: 107869579
48COL4A5NM_000495.4(COL4A5): c.82-?_3373+?deldeletionPathogenicGRCh37Chr X, 107683437: 107908736
49COL4A5NM_033380.2(COL4A5): c.1690G> C (p.Gly564Arg)single nucleotide variantLikely pathogenicrs281874674GRCh38Chr X, 108597479: 108597479
50COL4A5COL4A5: c.82-?_141+?del (p.Ala28_Lys47del)deletionPathogenicGRCh37Chr X, 107683437: 107802293
51COL4A5NM_000495.4(COL4A5): c.87C> A (p.Cys29Ter)single nucleotide variantPathogenicrs104886048GRCh37Chr X, 107782981: 107782981
52COL4A5NM_000495.4(COL4A5): c.90T> G (p.Tyr30Ter)single nucleotide variantPathogenicrs104886047GRCh37Chr X, 107782984: 107782984
53COL4A5NM_000495.4(COL4A5): c.119delG (p.Cys40Serfs)deletionPathogenicrs104886042GRCh37Chr X, 107783013: 107783013
54COL4A5NM_000495.4(COL4A5): c.142-1G> Asingle nucleotide variantPathogenicrs104886323GRCh37Chr X, 107802293: 107802293
55COL4A5NM_000495.4(COL4A5): c.142-?_3373+?deldeletionPathogenicGRCh37Chr X, 107783036: 107908736
56COL4A5NM_000495.4(COL4A5): c.142-?_2677+?deldeletionPathogenicGRCh37Chr X, 107783036: 107865032
57COL4A5NM_000495.4(COL4A5): c.142G> A (p.Gly48Arg)single nucleotide variantPathogenicrs281874669GRCh37Chr X, 107802294: 107802294
58COL4A5NP_203699.1: p.Gly51fsinsertionPathogenic
59COL4A5COL4A5: c.142-?_231+?del(p.Gly48_Lys77del)deletionPathogenicGRCh37Chr X, 107783036: 107807111
60COL4A5NM_000495.4(COL4A5): c.231+1G> Asingle nucleotide variantPathogenicrs104886349GRCh37Chr X, 107802384: 107802384
61COL4A5NM_000495.4(COL4A5): c.232-1G> Tsingle nucleotide variantPathogenicrs104886350GRCh37Chr X, 107807111: 107807111
62COL4A5NM_000495.4(COL4A5): c.232-1G> Asingle nucleotide variantPathogenicrs104886350GRCh37Chr X, 107807111: 107807111
63COL4A5NM_000495.4(COL4A5): c.232-?_2041+?deldeletionPathogenicGRCh38Chr X, 108559154: 108601884
64COL4A5NM_000495.4(COL4A5): c.232-?_780+?deldeletionPathogenicGRCh38Chr X, 108563881: 108578384
65COL4A5NM_000495.4(COL4A5): c.232-?_4510+?deldeletionPathogenicGRCh37Chr X, 107802384: 107935977
66COL4A5NM_000495.4(COL4A5): c.250delG (p.Pro85Hisfs)deletionPathogenicrs104886044GRCh37Chr X, 107807130: 107807130
67COL4A5NM_000495.4(COL4A5): c.276+5G> Asingle nucleotide variantPathogenicrs104886365GRCh37Chr X, 107807161: 107807161
68COL4A5NM_000495.4(COL4A5): c.277-1G> Tsingle nucleotide variantPathogenicrs104886367GRCh37Chr X, 107811858: 107811858
69COL4A5NM_000495.4(COL4A5): c.277-?_609+?deldeletionPathogenic
70COL4A5NM_000495.4(COL4A5): c.286G> A (p.Gly96Arg)single nucleotide variantPathogenicrs281874706GRCh37Chr X, 107811868: 107811868
71COL4A5NM_000495.4(COL4A5): c.293delC (p.Pro98Leufs)deletionPathogenicrs104886045GRCh37Chr X, 107811875: 107811875
72COL4A5NM_000495.4(COL4A5): c.322-1G> Asingle nucleotide variantPathogenicrs104886375GRCh37Chr X, 107811988: 107811988
73COL4A5NM_000495.4(COL4A5): c.351_359delACCTCAAGG (p.Pro118_Gly120del)deletionPathogenicrs104886390GRCh37Chr X, 107812018: 107812026
74COL4A5NM_000495.4(COL4A5): c.368delG (p.Gly123Aspfs)deletionPathogenicrs104886046GRCh37Chr X, 107812035: 107812035
75COL4A5NM_000495.4(COL4A5): c.385-719G> Asingle nucleotide variantPathogenicrs104886396GRCh37Chr X, 107813924: 107813924
76COL4A5NM_000495.4(COL4A5): c.385-1G> Csingle nucleotide variantPathogenicrs104886395GRCh37Chr X, 107814642: 107814642
77COL4A5NM_000495.4(COL4A5): c.385G> A (p.Gly129Arg)single nucleotide variantPathogenicrs281874722GRCh37Chr X, 107814643: 107814643
78COL4A5NM_000495.4(COL4A5): c.386G> A (p.Gly129Glu)single nucleotide variantPathogenicrs281874723GRCh37Chr X, 107814644: 107814644
79COL4A5NM_000495.4(COL4A5): c.386G> T (p.Gly129Val)single nucleotide variantPathogenicrs281874723GRCh37Chr X, 107814644: 107814644
80COL4A5NM_000495.4(COL4A5): c.388G> T (p.Glu130Ter)single nucleotide variantPathogenicrs104886051GRCh37Chr X, 107814646: 107814646
81COL4A5NM_000495.4(COL4A5): c.430G> A (p.Gly144Ser)single nucleotide variantPathogenicrs104886052GRCh37Chr X, 107814688: 107814688
82COL4A5NM_000495.4(COL4A5): c.431G> A (p.Gly144Asp)single nucleotide variantPathogenicrs281874737GRCh37Chr X, 107814689: 107814689
83COL4A5NM_000495.4(COL4A5): c.438+5G> Asingle nucleotide variantPathogenicrs281874739GRCh37Chr X, 107814701: 107814701
84COL4A5NM_000495.4(COL4A5): c.440delG (p.Gly147Aspfs)deletionPathogenicrs104886053GRCh37Chr X, 107815042: 107815042
85COL4A5NM_000495.4(COL4A5): c.442dupC (p.Gly150Trpfs)duplicationPathogenicrs104886419GRCh37Chr X, 107815044: 107815044
86COL4A5NM_000495.4(COL4A5): c.446delC (p.Pro149Leufs)deletionPathogenicrs104886054GRCh37Chr X, 107815048: 107815048
87COL4A5NM_000495.4(COL4A5): c.466-17T> Gsingle nucleotide variantPathogenicrs104886415GRCh37Chr X, 107816787: 107816787
88COL4A5NM_000495.4(COL4A5): c.466-12G> Asingle nucleotide variantPathogenicrs104886414GRCh37Chr X, 107816792: 107816792
89COL4A5NM_000495.4(COL4A5): c.466-2A> Gsingle nucleotide variantPathogenicrs104886416GRCh37Chr X, 107816802: 107816802
90COL4A5NM_000495.4(COL4A5): c.520G> C (p.Gly174Arg)single nucleotide variantPathogenicrs104886055GRCh37Chr X, 107816858: 107816858
91COL4A5NM_000495.4(COL4A5): c.529G> T (p.Gly177Cys)single nucleotide variantPathogenicrs104886056GRCh37Chr X, 107816867: 107816867
92COL4A5NM_000495.4(COL4A5): c.529G> C (p.Gly177Arg)single nucleotide variantPathogenicrs104886056GRCh37Chr X, 107816867: 107816867
93COL4A5NM_000495.4(COL4A5): c.533delC (p.Pro178Leufs)deletionPathogenicrs104886058GRCh37Chr X, 107816871: 107816871
94COL4A5NM_000495.4(COL4A5): c.538G> A (p.Gly180Arg)single nucleotide variantPathogenicrs281874755GRCh37Chr X, 107816876: 107816876
95COL4A5NP_203699.1: p.?deletionPathogenic
96COL4A5NM_000495.4(COL4A5): c.546+1G> Asingle nucleotide variantPathogenicrs104886429GRCh37Chr X, 107816885: 107816885
97COL4A5NM_033380.2(COL4A5): c.546+3_546+4insT (p.?)insertionPathogenicrs104886430GRCh37Chr X, 107816887: 107816888
98COL4A5NM_000495.4(COL4A5): c.547-2A> Gsingle nucleotide variantPathogenicrs281874756GRCh37Chr X, 107819138: 107819138
99COL4A5NM_000495.4(COL4A5): c.547-1G> Asingle nucleotide variantPathogenicrs104886431GRCh37Chr X, 107819139: 107819139
100COL4A5NM_000495.4(COL4A5): c.547dupG (p.Leu184Profs)duplicationPathogenicrs104886432GRCh37Chr X, 107819140: 107819140
101COL4A5NM_000495.4(COL4A5): c.548G> T (p.Gly183Val)single nucleotide variantPathogenicrs104886059GRCh37Chr X, 107819141: 107819141
102COL4A5NM_000495.4(COL4A5): c.550dupC (p.Leu184Profs)duplicationPathogenicrs104886433GRCh37Chr X, 107819143: 107819143
103COL4A5NM_000495.4(COL4A5): c.574G> A (p.Gly192Arg)single nucleotide variantPathogenicrs104886060GRCh37Chr X, 107819167: 107819167
104COL4A5NM_000495.4(COL4A5): c.584G> A (p.Gly195Asp)single nucleotide variantPathogenicrs104886061GRCh37Chr X, 107819177: 107819177
105COL4A5NM_000495.4(COL4A5): c.593G> A (p.Gly198Glu)single nucleotide variantPathogenicrs104886057GRCh37Chr X, 107819186: 107819186
106COL4A5NM_000495.4(COL4A5): c.602G> T (p.Gly201Val)single nucleotide variantPathogenicrs104886062GRCh37Chr X, 107819195: 107819195
107COL4A5NM_000495.4(COL4A5): c.609+1G> Asingle nucleotide variantPathogenicrs104886434GRCh37Chr X, 107819203: 107819203
108COL4A5NP_203699.1: p.?single nucleotide variantPathogenic
109COL4A5NM_000495.4(COL4A5): c.610-2A> Gsingle nucleotide variantPathogenicrs281874758GRCh37Chr X, 107821180: 107821180
110COL4A5NM_000495.4(COL4A5): c.610_628del19 (p.Gly204Aspfs)deletionPathogenicrs104886435GRCh37Chr X, 107821182: 107821200
111COL4A5NM_000495.4(COL4A5): c.611G> A (p.Gly204Asp)single nucleotide variantPathogenicrs104886063GRCh37Chr X, 107821183: 107821183
112COL4A5NM_000495.4(COL4A5): c.611G> T (p.Gly204Val)single nucleotide variantPathogenicrs104886063GRCh37Chr X, 107821183: 107821183
113COL4A5NM_000495.4(COL4A5): c.611_612delGC (p.Gly204Alafs)deletionPathogenicrs281874759GRCh37Chr X, 107821183: 107821184
114COL4A5NM_000495.4(COL4A5): c.634delC (p.Pro212Glnfs)deletionPathogenicrs104886065GRCh37Chr X, 107821206: 107821206
115COL4A5NM_000495.4(COL4A5): c.638G> A (p.Gly213Glu)single nucleotide variantPathogenicrs104886066GRCh37Chr X, 107821210: 107821210
116COL4A5NM_000495.4(COL4A5): c.646-12_646-11delTTdeletionPathogenicrs104886436GRCh37Chr X, 107821296: 107821297
117COL4A5NM_000495.4(COL4A5): c.646-3C> Asingle nucleotide variantPathogenicrs104886437GRCh37Chr X, 107821305: 107821305
118COL4A5NM_000495.4(COL4A5): c.646G> A (p.Gly216Arg)single nucleotide variantPathogenicrs104886067GRCh37Chr X, 107821308: 107821308
119COL4A5NM_000495.4(COL4A5): c.647G> T (p.Gly216Val)single nucleotide variantPathogenicrs104886074GRCh37Chr X, 107821309: 107821309
120COL4A5NM_000495.4(COL4A5): c.647_648dupGG (p.Asn217Glyfs)duplicationPathogenicrs104886438GRCh37Chr X, 107821309: 107821310
121COL4A5NM_000495.4(COL4A5): c.648dupG (p.Asn217Glufs)duplicationPathogenicrs104886438GRCh37Chr X, 107821310: 107821310
122COL4A5NM_000495.4(COL4A5): c.655G> A (p.Gly219Ser)single nucleotide variantPathogenicrs104886075GRCh37Chr X, 107821317: 107821317
123COL4A5NM_000495.4(COL4A5): c.687+1G> Asingle nucleotide variantPathogenicrs104886440GRCh37Chr X, 107821350: 107821350
124COL4A5NM_000495.4(COL4A5): c.688-3C> Gsingle nucleotide variantPathogenicrs104886441GRCh37Chr X, 107821518: 107821518
125COL4A5NM_000495.4(COL4A5): c.688G> C (p.Gly230Arg)single nucleotide variantPathogenicrs104886076GRCh37Chr X, 107821521: 107821521
126COL4A5NM_000495.4(COL4A5): c.689delG (p.Gly230Valfs)deletionPathogenicrs104886077GRCh37Chr X, 107821522: 107821522
127COL4A5NM_000495.4(COL4A5): c.689G> A (p.Gly230Asp)single nucleotide variantPathogenicrs281874763GRCh37Chr X, 107821522: 107821522
128COL4A5NM_000495.4(COL4A5): c.716G> A (p.Gly239Glu)single nucleotide variantPathogenicrs104886068GRCh37Chr X, 107821549: 107821549
129COL4A5NM_000495.4(COL4A5): c.761_762delAG (p.Glu254Valfs)deletionPathogenicrs104886443GRCh37Chr X, 107821594: 107821595
130COL4A5NM_000495.4(COL4A5): c.780+2T> Gsingle nucleotide variantPathogenicrs104886444GRCh37Chr X, 107821615: 107821615
131COL4A5NM_033380.3(COL4A5): c.781-1_786delGGGACTT (p.?)deletionPathogenicrs104886445GRCh37Chr X, 107823762: 107823768
132COL4A5NP_203699.1: p.?deletionPathogenic
133COL4A5NM_000495.4(COL4A5): c.781-?_1423+?deldeletionPathogenic
134COL4A5NM_000495.4(COL4A5): c.790G> C (p.Gly264Arg)single nucleotide variantPathogenicrs104886069GRCh37Chr X, 107823772: 107823772
135COL4A5NM_000495.4(COL4A5): c.791G> A (p.Gly264Asp)single nucleotide variantPathogenicrs104886070GRCh37Chr X, 107823773: 107823773
136COL4A5NM_000495.4(COL4A5): c.796C> T (p.Arg266Ter)single nucleotide variantPathogenicrs104886071GRCh37Chr X, 107823778: 107823778
137COL4A5NM_000495.4(COL4A5): c.812delC (p.Pro271Leufs)deletionPathogenicrs104886072GRCh37Chr X, 107823794: 107823794
138COL4A5NM_000495.4(COL4A5): c.834+1G> Asingle nucleotide variantPathogenicrs104886446GRCh37Chr X, 107823817: 107823817
139COL4A5NM_000495.4(COL4A5): c.834+5G> Tsingle nucleotide variantPathogenicrs104886442GRCh37Chr X, 107823821: 107823821
140COL4A5NM_000495.4(COL4A5): c.859G> T (p.Glu287Ter)single nucleotide variantPathogenicrs104886447GRCh37Chr X, 107823936: 107823936
141COL4A5NM_000495.4(COL4A5): c.866G> T (p.Gly289Val)single nucleotide variantPathogenicrs104886450GRCh37Chr X, 107823943: 107823943
142COL4A5NM_000495.4(COL4A5): c.866delG (p.Gly289Valfs)deletionPathogenicrs281874766GRCh37Chr X, 107823943: 107823943
143COL4A5NM_000495.4(COL4A5): c.873delA (p.Gly292Glufs)deletionPathogenicrs281874767GRCh37Chr X, 107823950: 107823950
144COL4A5NM_000495.4(COL4A5): c.874G> C (p.Gly292Arg)single nucleotide variantPathogenicrs104886073GRCh37Chr X, 107823951: 107823951
145COL4A5NM_000495.4(COL4A5): c.875G> T (p.Gly292Val)single nucleotide variantPathogenicrs104886078GRCh37Chr X, 107823952: 107823952
146COL4A5NM_000495.4(COL4A5): c.875delG (p.Gly292Glufs)deletionPathogenicrs281874768GRCh37Chr X, 107823952: 107823952
147COL4A5NM_000495.4(COL4A5): c.884G> A (p.Gly295Asp)single nucleotide variantPathogenicrs104886079GRCh37Chr X, 107823961: 107823961
148COL4A5NM_000495.4(COL4A5): c.891+1G> Asingle nucleotide variantPathogenicrs104886451GRCh37Chr X, 107823969: 107823969
149COL4A5NM_000495.4(COL4A5): c.892-2A> Gsingle nucleotide variantPathogenicrs104886453GRCh37Chr X, 107824211: 107824211
150COL4A5NM_000495.4(COL4A5): c.892-1G> Csingle nucleotide variantPathogenicrs104886452GRCh37Chr X, 107824212: 107824212
151COL4A5NM_000495.4(COL4A5): c.892G> A (p.Gly298Ser)single nucleotide variantPathogenicrs104886080GRCh37Chr X, 107824213: 107824213
152COL4A5NM_000495.4(COL4A5): c.913G> T (p.Glu305Ter)single nucleotide variantPathogenicrs104886081GRCh37Chr X, 107824234: 107824234
153COL4A5NM_000495.4(COL4A5): c.920G> A (p.Gly307Asp)single nucleotide variantPathogenicrs104886082GRCh37Chr X, 107824241: 107824241
154COL4A5NM_000495.4(COL4A5): c.928G> A (p.Gly310Arg)single nucleotide variantPathogenicrs104886083GRCh37Chr X, 107824249: 107824249
155COL4A5NM_000495.4(COL4A5): c.937-1G> Asingle nucleotide variantPathogenicrs104886448GRCh37Chr X, 107826113: 107826113
156COL4A5NM_000495.4(COL4A5): c.937-?_990+?del (p.Gly313_Lys330del)deletionPathogenicGRCh37Chr X, 107826114: 107826167
157COL4A5NM_000495.4(COL4A5): c.937G> A (p.Gly313Ser)single nucleotide variantPathogenicrs104886084GRCh37Chr X, 107826114: 107826114
158COL4A5NM_000495.4(COL4A5): c.945dupT (p.Gly316Trpfs)duplicationPathogenicrs104886449GRCh37Chr X, 107826122: 107826122
159COL4A5NM_000495.4(COL4A5): c.955G> C (p.Gly319Arg)single nucleotide variantPathogenicrs104886085GRCh37Chr X, 107826132: 107826132
160COL4A5NM_000495.4(COL4A5): c.956G> A (p.Gly319Asp)single nucleotide variantPathogenicrs104886086GRCh37Chr X, 107826133: 107826133
161COL4A5NM_000495.4(COL4A5): c.960C> A (p.Tyr320Ter)single nucleotide variantPathogenicrs281874769GRCh37Chr X, 107826137: 107826137
162COL4A5NM_000495.4(COL4A5): c.973G> A (p.Gly325Arg)single nucleotide variantPathogenicrs104886088GRCh37Chr X, 107826150: 107826150
163COL4A5NM_000495.4(COL4A5): c.973G> T (p.Gly325Ter)single nucleotide variantPathogenicrs104886088GRCh37Chr X, 107826150: 107826150
164COL4A5NM_000495.4(COL4A5): c.992G> T (p.Gly331Val)single nucleotide variantPathogenicrs104886092GRCh37Chr X, 107827715: 107827715
165COL4A5NM_000495.4(COL4A5): c.1001G> T (p.Gly334Val)single nucleotide variantPathogenicrs104886093GRCh37Chr X, 107827724: 107827724
166COL4A5NM_000495.4(COL4A5): c.1032+3_1032+6delAAGTdeletionPathogenicrs104886314GRCh37Chr X, 107827758: 107827761
167COL4A5NM_000495.4(COL4A5): c.1032+5G> Tsingle nucleotide variantPathogenicrs104886315GRCh37Chr X, 107827760: 107827760
168COL4A5NM_000495.4(COL4A5): c.1033-?_1516+?deldeletionPathogenic
169COL4A5NM_000495.4(COL4A5): c.1060dupA (p.Thr354Asnfs)duplicationPathogenicrs281874655GRCh37Chr X, 107829872: 107829872
170COL4A5NM_000495.4(COL4A5): c.1062dupT (p.Ile355Tyrfs)duplicationPathogenicrs104886316GRCh37Chr X, 107829874: 107829874
171COL4A5NM_000495.4(COL4A5): c.1074delA (p.Gly359Glufs)deletionPathogenicrs104886095GRCh37Chr X, 107829886: 107829886
172COL4A5NM_000495.4(COL4A5): c.1084G> A (p.Gly362Arg)single nucleotide variantPathogenicrs281874656GRCh37Chr X, 107829896: 107829896
173COL4A5NM_000495.4(COL4A5): c.1094G> A (p.Gly365Glu)single nucleotide variantPathogenicrs104886096GRCh37Chr X, 107829906: 107829906
174COL4A5NM_000495.4(COL4A5): c.1112G> A (p.Gly371Glu)single nucleotide variantPathogenicrs104886097GRCh37Chr X, 107829924: 107829924
175COL4A5NM_000495.4(COL4A5): c.1117C> T (p.Arg373Ter)single nucleotide variantPathogenicrs104886094GRCh37Chr X, 107829929: 107829929
176COL4A5NM_000495.4(COL4A5): c.1121G> C (p.Gly374Ala)single nucleotide variantPathogenicrs104886108GRCh37Chr X, 107829933: 107829933
177COL4A5NM_000495.4(COL4A5): c.1139G> A (p.Gly380Asp)single nucleotide variantPathogenicrs104886098GRCh37Chr X, 107829951: 107829951
178COL4A5NM_000495.4(COL4A5): c.1148G> A (p.Gly383Asp)single nucleotide variantPathogenicrs104886105GRCh37Chr X, 107829960: 107829960
179COL4A5NM_000495.4(COL4A5): c.1165+1G> Asingle nucleotide variantPathogenicrs104886317GRCh37Chr X, 107829978: 107829978
180COL4A5NM_000495.4(COL4A5): c.1165+2T> Gsingle nucleotide variantPathogenicrs104886324GRCh37Chr X, 107829979: 107829979
181COL4A5NM_000495.4(COL4A5): c.1166-?_1423+?deldeletionPathogenic
182COL4A5NM_000495.4(COL4A5): c.1166-?_1516+?deldeletionPathogenic
183COL4A5NM_000495.4(COL4A5): c.1166-?_2041+?deldeletionPathogenic
184COL4A5NM_000495.4(COL4A5): c.1181delG (p.Gly394Valfs)deletionPathogenicrs281874658GRCh37Chr X, 107834303: 107834303
185COL4A5NM_000495.4(COL4A5): c.1199G> A (p.Gly400Glu)single nucleotide variantPathogenicrs104886107GRCh37Chr X, 107834321: 107834321
186COL4A5NM_000495.4(COL4A5): c.1208G> T (p.Gly403Val)single nucleotide variantPathogenicrs104886099GRCh37Chr X, 107834330: 107834330
187COL4A5NM_000495.4(COL4A5): c.1213dupA (p.Arg405Lysfs)duplicationPathogenicrs281874659GRCh37Chr X, 107834335: 107834335
188COL4A5NM_000495.4(COL4A5): c.1214_1215insA (p.Gln407Serfs)insertionPathogenicrs104886325GRCh37Chr X, 107834336: 107834337
189COL4A5NP_203699.1: p.Gly406fsinsertionPathogenic
190COL4A5NM_000495.4(COL4A5): c.1217G> T (p.Gly406Val)single nucleotide variantPathogenicrs104886100GRCh37Chr X, 107834339: 107834339
191COL4A5NM_000495.4(COL4A5): c.1219C> T (p.Gln407Ter)single nucleotide variantPathogenicrs281874661GRCh37Chr X, 107834341: 107834341
192COL4A5NM_000495.4(COL4A5): c.1222A> T (p.Lys408Ter)single nucleotide variantPathogenicrs281874662GRCh37Chr X, 107834344: 107834344
193COL4A5NM_000495.4(COL4A5): c.1226G> A (p.Gly409Asp)single nucleotide variantPathogenicrs104886101GRCh37Chr X, 107834348: 107834348
194COL4A5NM_000495.4(COL4A5): c.1235G> T (p.Gly412Val)single nucleotide variantPathogenicrs104886102GRCh37Chr X, 107834357: 107834357
195COL4A5NM_000495.4(COL4A5): c.1243G> A (p.Gly415Arg)single nucleotide variantPathogenicrs104886103GRCh37Chr X, 107834365: 107834365
196COL4A5NM_000495.4(COL4A5): c.1254delT (p.Pro419Leufs)deletionPathogenicrs104886104GRCh37Chr X, 107834376: 107834376
197COL4A5NM_000495.4(COL4A5): c.1259G> A (p.Gly420Glu)single nucleotide variantPathogenicrs281874663GRCh37Chr X, 107834381: 107834381
198COL4A5NM_000495.4(COL4A5): c.1265delC (p.Pro422Leufs)deletionPathogenicrs104886109GRCh37Chr X, 107834387: 107834387
199COL4A5NM_000495.4(COL4A5): c.1268G> A (p.Gly423Glu)single nucleotide variantPathogenicrs104886110GRCh37Chr X, 107834390: 107834390
200COL4A5NM_000495.4(COL4A5): c.1276G> A (p.Gly426Arg)single nucleotide variantPathogenicrs104886111GRCh37Chr X, 107834398: 107834398
201COL4A5NM_000495.4(COL4A5): c.1280dupA (p.Pro428Alafs)duplicationPathogenicrs104886327GRCh37Chr X, 107834402: 107834402
202COL4A5NM_000495.4(COL4A5): c.1286G> A (p.Gly429Glu)single nucleotide variantPathogenicrs104886112GRCh37Chr X, 107834408: 107834408
203COL4A5NP_203699.1: p.Ala430fsduplicationPathogenic
204COL4A5NM_000495.4(COL4A5): c.1294G> A (p.Gly432Arg)single nucleotide variantPathogenicrs281874664GRCh37Chr X, 107834416: 107834416
205COL4A5NM_000495.4(COL4A5): c.1340-2A> Gsingle nucleotide variantPathogenicrs104886319GRCh37Chr X, 107834789: 107834789
206COL4A5NM_000495.4(COL4A5): c.1350_1351delAT (p.Ile450Metfs)deletionPathogenicrs104886320GRCh37Chr X, 107834801: 107834802
207COL4A5p.Pro456_Pro458deldeletionPathogenic
208COL4A5NM_000495.4(COL4A5): c.1371_1379delCCCCCCAGG (p.Pro458_Gly460del)deletionPathogenicrs104886321GRCh37Chr X, 107834822: 107834830
209COL4A5NM_000495.4(COL4A5): c.1376delC (p.Pro459Glnfs)deletionPathogenicrs104886113GRCh37Chr X, 107834827: 107834827
210COL4A5NM_000495.4(COL4A5): c.1376dupC (p.Gly460Argfs)duplicationPathogenicrs281874666GRCh37Chr X, 107834827: 107834827
211COL4A5NM_000495.4(COL4A5): c.1397G> A (p.Gly466Glu)single nucleotide variantPathogenicrs104886114GRCh37Chr X, 107834848: 107834848
212COL4A5NM_000495.4(COL4A5): c.1406G> A (p.Gly469Glu)single nucleotide variantPathogenicrs104886115GRCh37Chr X, 107834857: 107834857
213COL4A5NM_000495.4(COL4A5): c.1414G> A (p.Gly472Arg)single nucleotide variantPathogenicrs104886116GRCh37Chr X, 107834865: 107834865
214COL4A5NM_000495.4(COL4A5): c.1423G> A (p.Gly475Ser)single nucleotide variantPathogenicrs281874667GRCh37Chr X, 107834874: 107834874
215COL4A5NM_000495.4(COL4A5): c.1423+1G> Asingle nucleotide variantPathogenicrs104886312GRCh37Chr X, 107834875: 107834875
216COL4A5NP_203699.1: p.?insertionPathogenic
217COL4A5NM_000495.4(COL4A5): c.1424-20T> Asingle nucleotide variantPathogenicrs281874668GRCh37Chr X, 107838719: 107838719
218COL4A5NM_000495.4(COL4A5): c.1424-1G> Asingle nucleotide variantPathogenicrs104886329GRCh37Chr X, 107838738: 107838738
219COL4A5NP_203699.1: p.?deletionPathogenic
220COL4A5NM_000495.4(COL4A5): c.1472G> A (p.Gly491Glu)single nucleotide variantPathogenicrs104886117GRCh37Chr X, 107838787: 107838787
221COL4A5NM_000495.4(COL4A5): c.1481G> A (p.Gly494Asp)single nucleotide variantPathogenicrs104886118GRCh37Chr X, 107838796: 107838796
222COL4A5p.Gln495_Gly506deldeletionPathogenic
223COL4A5NM_000495.4(COL4A5): c.1489G> T (p.Gly497Cys)single nucleotide variantPathogenicrs104886120GRCh37Chr X, 107838804: 107838804
224COL4A5NM_000495.4(COL4A5): c.1498G> C (p.Gly500Arg)single nucleotide variantPathogenicrs281874670GRCh37Chr X, 107838813: 107838813
225COL4A5NM_000495.4(COL4A5): c.1516+1G> Asingle nucleotide variantPathogenicrs104886331GRCh37Chr X, 107838832: 107838832
226COL4A5NM_000495.4(COL4A5): c.1517-1G> Tsingle nucleotide variantPathogenicrs104886332GRCh37Chr X, 107840227: 107840227
227COL4A5NM_000495.4(COL4A5): c.1562G> A (p.Gly521Asp)single nucleotide variantPathogenicrs104886122GRCh37Chr X, 107840273: 107840273
228COL4A5NM_000495.4(COL4A5): c.1566delA (p.Thr523Leufs)deletionPathogenicrs104886123GRCh37Chr X, 107840277: 107840277
229COL4A5NM_000495.4(COL4A5): c.1571G> A (p.Gly524Asp)single nucleotide variantPathogenicrs104886119GRCh37Chr X, 107840282: 107840282
230COL4A5NC_000023.10: g.107840292_107840615del324deletionPathogenicGRCh37Chr X, 107840292: 107840615
231COL4A5NM_000495.4(COL4A5): c.1587+1delGdeletionPathogenicrs104886124GRCh37Chr X, 107840299: 107840299
232COL4A5NM_000495.4(COL4A5): c.1587+1G> Asingle nucleotide variantPathogenicrs104886313GRCh37Chr X, 107840299: 107840299
233COL4A5NM_000495.4(COL4A5): c.1598G> A (p.Gly533Glu)single nucleotide variantPathogenicrs281874672GRCh37Chr X, 107840617: 107840617
234COL4A5NM_000495.4(COL4A5): c.1607G> A (p.Gly536Asp)single nucleotide variantPathogenicrs104886125GRCh37Chr X, 107840626: 107840626
235COL4A5NM_000495.4(COL4A5): c.1633G> C (p.Gly545Arg)single nucleotide variantPathogenicrs104886126GRCh37Chr X, 107840652: 107840652
236COL4A5NM_000495.4(COL4A5): c.1634G> T (p.Gly545Val)single nucleotide variantPathogenicrs104886127GRCh37Chr X, 107840653: 107840653
237COL4A5NM_000495.4(COL4A5): c.1643G> A (p.Gly548Asp)single nucleotide variantPathogenicrs281874673GRCh37Chr X, 107840662: 107840662
238COL4A5NM_000495.4(COL4A5): c.1653delC (p.Thr552Leufs)deletionPathogenicrs104886128GRCh37Chr X, 107840672: 107840672
239COL4A5NM_000495.4(COL4A5): c.1672G> C (p.Gly558Arg)single nucleotide variantPathogenicrs104886129GRCh37Chr X, 107840691: 107840691
240COL4A5NM_000495.4(COL4A5): c.1681G> A (p.Gly561Arg)single nucleotide variantPathogenicrs104886136GRCh37Chr X, 107840700: 107840700
241COL4A5NM_000495.4(COL4A5): c.1690G> T (p.Gly564Cys)single nucleotide variantPathogenicrs281874674GRCh37Chr X, 107840709: 107840709
242COL4A5NM_000495.4(COL4A5): c.1700G> C (p.Gly567Ala)single nucleotide variantPathogenicrs104886137GRCh37Chr X, 107840719: 107840719
243COL4A5NM_000495.4(COL4A5): c.1718G> A (p.Gly573Asp)single nucleotide variantPathogenicrs104886138GRCh37Chr X, 107840737: 107840737
244COL4A5NM_000495.4(COL4A5): c.1726G> A (p.Gly576Ser)single nucleotide variantPathogenicrs281874675GRCh37Chr X, 107840745: 107840745
245COL4A5NM_000495.4(COL4A5): c.1735G> A (p.Gly579Arg)single nucleotide variantPathogenicrs104886139GRCh37Chr X, 107840754: 107840754
246COL4A5NM_000495.4(COL4A5): c.1736G> A (p.Gly579Glu)single nucleotide variantPathogenicrs104886130GRCh37Chr X, 107840755: 107840755
247COL4A5NM_000495.4(COL4A5): c.1738C> T (p.Gln580Ter)single nucleotide variantPathogenicrs281874676GRCh37Chr X, 107840757: 107840757
248COL4A5NM_000495.4(COL4A5): c.1739_1948+98deldeletionPathogenicrs104886336GRCh37Chr X, 107840758: 107842198
249COL4A5NM_000495.4(COL4A5): c.1757_1770delTTCCTGGCCCGAAA (p.Leu586Argfs)deletionPathogenicrs281874678GRCh37Chr X, 107840776: 107840789
250COL4A5NM_000495.4(COL4A5): c.1779+1G> Tsingle nucleotide variantPathogenicrs104886337GRCh37Chr X, 107840799: 107840799
251COL4A5NM_000495.4(COL4A5): c.1779+3G> Csingle nucleotide variantPathogenicrs281874679GRCh37Chr X, 107840801: 107840801
252COL4A5NM_000495.4(COL4A5): c.1780-1G> Asingle nucleotide variantPathogenicrs104886338GRCh37Chr X, 107841931: 107841931
253COL4A5NM_000495.4(COL4A5): c.1780G> A (p.Gly594Ser)single nucleotide variantPathogenicrs104886131GRCh37Chr X, 107841932: 107841932
254COL4A5NM_000495.4(COL4A5): c.1783G> A (p.Gly595Arg)single nucleotide variantPathogenicrs104886132GRCh37Chr X, 107841935: 107841935
255COL4A5NM_000495.4(COL4A5): c.1808G> T (p.Gly603Val)single nucleotide variantPathogenicrs104886133GRCh37Chr X, 107841960: 107841960
256COL4A5NM_000495.4(COL4A5): c.1825G> C (p.Gly609Arg)single nucleotide variantPathogenicrs104886135GRCh37Chr X, 107841977: 107841977
257COL4A5NM_000495.4(COL4A5): c.1826G> T (p.Gly609Val)single nucleotide variantPathogenicrs104886140GRCh37Chr X, 107841978: 107841978
258COL4A5NM_000495.4(COL4A5): c.1856C> T (p.Pro619Leu)single nucleotide variantPathogenicrs281874681GRCh37Chr X, 107842008: 107842008
259COL4A5NM_000495.4(COL4A5): c.1861G> T (p.Gly621Cys)single nucleotide variantPathogenicrs104886141GRCh37Chr X, 107842013: 107842013
260COL4A5NM_000495.4(COL4A5): c.1871G> A (p.Gly624Asp)single nucleotide variantPathogenicrs104886142GRCh37Chr X, 107842023: 107842023
261COL4A5NM_000495.4(COL4A5): c.1877G> C (p.Gly626Ala)single nucleotide variantPathogenicrs104886143GRCh37Chr X, 107842029: 107842029
262COL4A5NM_000495.4(COL4A5): c.1886G> A (p.Gly629Asp)single nucleotide variantPathogenicrs104886144GRCh37Chr X, 107842038: 107842038
263COL4A5NM_000495.4(COL4A5): c.1895G> A (p.Gly632Asp)single nucleotide variantPathogenicrs104886145GRCh37Chr X, 107842047: 107842047
264COL4A5NM_000495.4(COL4A5): c.1897G> A (p.Glu633Lys)single nucleotide variantPathogenicrs104886146GRCh37Chr X, 107842049: 107842049
265COL4A5NM_000495.4(COL4A5): c.1904G> A (p.Gly635Asp)single nucleotide variantPathogenicrs281874683GRCh37Chr X, 107842056: 107842056
266COL4A5NM_000495.4(COL4A5): c.1912G> A (p.Gly638Ser)single nucleotide variantPathogenicrs104886147GRCh37Chr X, 107842064: 107842064
267COL4A5NM_000495.4(COL4A5): c.1913G> C (p.Gly638Ala)single nucleotide variantPathogenicrs104886134GRCh37Chr X, 107842065: 107842065
268COL4A5NM_000495.4(COL4A5): c.1913G> T (p.Gly638Val)single nucleotide variantPathogenicrs104886134GRCh37Chr X, 107842065: 107842065
269COL4A5NM_000495.4(COL4A5): c.1948+1G> Asingle nucleotide variantPathogenicrs104886339GRCh37Chr X, 107842101: 107842101
270COL4A5NM_000495.4(COL4A5): c.1949-?_3373+?deldeletionPathogenicGRCh37Chr X, 107842101: 107908736
271COL4A5NM_000495.4(COL4A5): c.1957G> A (p.Gly653Arg)single nucleotide variantPathogenicrs104886150GRCh37Chr X, 107844631: 107844631
272COL4A5NM_000495.4(COL4A5): c.1960delG (p.Asp654Ilefs)deletionPathogenicrs104886152GRCh37Chr X, 107844634: 107844634
273COL4A5NM_000495.4(COL4A5): c.1997G> A (p.Gly666Asp)single nucleotide variantPathogenicrs104886153GRCh37Chr X, 107844671: 107844671
274COL4A5NM_000495.4(COL4A5): c.2005G> C (p.Gly669Arg)single nucleotide variantPathogenicrs281874684GRCh37Chr X, 107844679: 107844679
275COL4A5NM_000495.4(COL4A5): c.2006G> C (p.Gly669Ala)single nucleotide variantPathogenicrs104886151GRCh37Chr X, 107844680: 107844680
276COL4A5NM_000495.4(COL4A5): c.2018delG (p.Arg673Lysfs)deletionPathogenicrs104886156GRCh37Chr X, 107844692: 107844692
277COL4A5NM_000495.4(COL4A5): c.2023G> A (p.Gly675Ser)single nucleotide variantPathogenicrs104886157GRCh37Chr X, 107844697: 107844697
278COL4A5NM_000495.4(COL4A5): c.2041+1G> Tsingle nucleotide variantPathogenicrs104886340GRCh37Chr X, 107844716: 107844716
279COL4A5NM_000495.4(COL4A5): c.2042-18A> Gsingle nucleotide variantPathogenicrs104886341GRCh37Chr X, 107845097: 107845097
280COL4A5NM_000495.4(COL4A5): c.2042G> A (p.Gly681Asp)single nucleotide variantPathogenicrs104886158GRCh37Chr X, 107845115: 107845115
281COL4A5NM_000495.4(COL4A5): c.2050G> T (p.Gly684Ter)single nucleotide variantPathogenicrs104886159GRCh37Chr X, 107845123: 107845123
282COL4A5NM_000495.4(COL4A5): c.2051G> T (p.Gly684Val)single nucleotide variantPathogenicrs104886160GRCh37Chr X, 107845124: 107845124
283COL4A5NM_000495.4(COL4A5): c.2057delC (p.Pro686Glnfs)deletionPathogenicrs104886167GRCh37Chr X, 107845130: 107845130
284COL4A5NM_000495.4(COL4A5): c.2060G> A (p.Gly687Glu)single nucleotide variantPathogenicrs104886168GRCh37Chr X, 107845133: 107845133
285COL4A5NM_000495.4(COL4A5): c.2062_2114dup53 (p.Ile706Asnfs)duplicationPathogenicrs104886342GRCh37Chr X, 107845135: 107845187
286COL4A5NM_000495.4(COL4A5): c.2098G> T (p.Glu700Ter)single nucleotide variantPathogenicrs104886169GRCh37Chr X, 107845171: 107845171
287COL4A5NM_000495.4(COL4A5): c.2146G> C (p.Gly716Arg)single nucleotide variantPathogenicrs104886161GRCh37Chr X, 107845219: 107845219
288COL4A5NM_000495.4(COL4A5): c.2146+3A> Csingle nucleotide variantPathogenicrs104886343GRCh37Chr X, 107845222: 107845222
289COL4A5NM_000495.4(COL4A5): c.2147-3C> Gsingle nucleotide variantPathogenicrs104886345GRCh37Chr X, 107846191: 107846191
290COL4A5NM_000495.4(COL4A5): c.2147-2A> Gsingle nucleotide variantPathogenicrs104886344GRCh37Chr X, 107846192: 107846192
291COL4A5NM_000495.4(COL4A5): c.2147delG (p.Gly716Alafs)deletionPathogenicrs104886162GRCh37Chr X, 107846194: 107846194
292COL4A5NM_000495.4(COL4A5): c.2147-?_2767+?dup621duplicationPathogenicGRCh37Chr X, 107845220: 107865905
293COL4A5NM_000495.4(COL4A5): c.2155G> C (p.Gly719Arg)single nucleotide variantPathogenicrs281874686GRCh37Chr X, 107846202: 107846202
294COL4A5NM_000495.4(COL4A5): c.2165G> A (p.Gly722Glu)single nucleotide variantPathogenicrs104886163GRCh37Chr X, 107846212: 107846212
295COL4A5NM_000495.4(COL4A5): c.2206_2226del21 (p.Glu736_Pro742del)deletionPathogenicrs104886346GRCh37Chr X, 107846253: 107846273
296COL4A5NM_000495.4(COL4A5): c.2215C> T (p.Pro739Ser)single nucleotide variantPathogenicrs104886164GRCh37Chr X, 107846262: 107846262
297COL4A5NM_000495.4(COL4A5): c.2219G> A (p.Gly740Glu)single nucleotide variantPathogenicrs104886165GRCh37Chr X, 107846266: 107846266
298COL4A5NM_000495.4(COL4A5): c.2228G> A (p.Gly743Asp)single nucleotide variantPathogenicrs104886166GRCh37Chr X, 107846275: 107846275
299COL4A5NM_000495.4(COL4A5): c.2244+1G> Tsingle nucleotide variantPathogenicrs281874688GRCh37Chr X, 107846292: 107846292
300COL4A5NM_000495.4(COL4A5): c.2244+2T> Gsingle nucleotide variantPathogenicrs104886347GRCh37Chr X, 107846293: 107846293
301COL4A5NM_000495.4(COL4A5): c.2245-1G> Asingle nucleotide variantPathogenicrs104886348GRCh37Chr X, 107849971: 107849971
302COL4A5NM_000495.4(COL4A5): c.2287G> A (p.Gly763Arg)single nucleotide variantPathogenicrs104886171GRCh37Chr X, 107850014: 107850014
303COL4A5NM_000495.4(COL4A5): c.2288G> A (p.Gly763Glu)single nucleotide variantPathogenicrs281874689GRCh37Chr X, 107850015: 107850015
304COL4A5NM_000495.4(COL4A5): c.2297G> A (p.Gly766Asp)single nucleotide variantPathogenicrs104886172GRCh37Chr X, 107850024: 107850024
305COL4A5NM_000495.4(COL4A5): c.2305G> A (p.Gly769Arg)single nucleotide variantPathogenicrs281874690GRCh37Chr X, 107850032: 107850032
306COL4A5NM_000495.4(COL4A5): c.2315G> A (p.Gly772Asp)single nucleotide variantPathogenicrs104886173GRCh37Chr X, 107850042: 107850042
307COL4A5NM_000495.4(COL4A5): c.2315G> C (p.Gly772Ala)single nucleotide variantPathogenicrs104886173GRCh37Chr X, 107850042: 107850042
308COL4A5NM_000495.4(COL4A5): c.2322dupA (p.Gly775Argfs)duplicationPathogenicrs104886351GRCh37Chr X, 107850049: 107850049
309COL4A5NM_000495.4(COL4A5): c.2332G> A (p.Gly778Ser)single nucleotide variantPathogenicrs104886174GRCh37Chr X, 107850059: 107850059
310COL4A5NM_000495.4(COL4A5): c.2348delC (p.Pro783Argfs)deletionPathogenicrs104886175GRCh37Chr X, 107850075: 107850075
311COL4A5NM_000495.4(COL4A5): c.2360G> T (p.Gly787Val)single nucleotide variantPathogenicrs104886176GRCh37Chr X, 107850087: 107850087
312COL4A5NM_000495.4(COL4A5): c.2386G> A (p.Gly796Arg)single nucleotide variantPathogenicrs104886177GRCh37Chr X, 107850113: 107850113
313COL4A5NM_000495.4(COL4A5): c.2394A> G (p.Lys798=)single nucleotide variantPathogenicrs281874691GRCh37Chr X, 107850121: 107850121
314COL4A5NM_000495.4(COL4A5): c.2395+2delTdeletionPathogenicrs104886178GRCh37Chr X, 107850124: 107850124
315COL4A5NP_203699.1: p.?single nucleotide variantPathogenic
316COL4A5p.Gly802_Pro807deldeletionPathogenic
317COL4A5NM_000495.4(COL4A5): c.2404G> A (p.Gly802Arg)single nucleotide variantPathogenicrs104886179GRCh37Chr X, 107858149: 107858149
318COL4A5NM_000495.4(COL4A5): c.2423G> A (p.Gly808Glu)single nucleotide variantPathogenicrs104886180GRCh37Chr X, 107858168: 107858168
319COL4A5NM_000495.4(COL4A5): c.2431G> A (p.Gly811Arg)single nucleotide variantPathogenicrs104886182GRCh37Chr X, 107858176: 107858176
320COL4A5NM_000495.4(COL4A5): c.2432G> T (p.Gly811Val)single nucleotide variantPathogenicrs104886183GRCh37Chr X, 107858177: 107858177
321COL4A5NP_203699.1: p.Ile818fsindelPathogenic
322COL4A5NM_000495.4(COL4A5): c.2464G> C (p.Gly822Arg)single nucleotide variantPathogenicrs104886184GRCh37Chr X, 107858209: 107858209
323COL4A5NM_000495.4(COL4A5): c.2473G> T (p.Gly825Ter)single nucleotide variantPathogenicrs281874692GRCh37Chr X, 107858218: 107858218
324COL4A5NM_000495.4(COL4A5): c.2475_2483delACCACCAGG (p.Pro826_Gly828del)deletionPathogenicrs104886356GRCh37Chr X, 107858220: 107858228
325COL4A5NM_000495.4(COL4A5): c.2476delC (p.Pro826Hisfs)deletionPathogenicrs281874694GRCh37Chr X, 107858221: 107858221
326COL4A5NM_000495.4(COL4A5): c.2500G> C (p.Gly834Arg)single nucleotide variantPathogenicrs281874696GRCh37Chr X, 107858245: 107858245
327COL4A5NM_000495.4(COL4A5): c.2509G> Asingle nucleotide variantPathogenicrs104886185GRCh37Chr X, 107858254: 107858254
328COL4A5NM_000495.4(COL4A5): c.2510-33A> Gsingle nucleotide variantPathogenicrs104886358GRCh37Chr X, 107863456: 107863456
329COL4A5NM_000495.4(COL4A5): c.2510delG (p.Gly837Valfs)deletionPathogenicrs104886181GRCh37Chr X, 107863489: 107863489
330COL4A5COL4A5: c.2510-?_2677+?del (p.Gly837_Gly893delinsGly)deletionPathogenicGRCh37Chr X, 107863489: 107863656
331COL4A5NM_000495.4(COL4A5): c.2550_2573del24 (p.Leu853_Gly860del)deletionPathogenicrs104886359GRCh37Chr X, 107863529: 107863552
332COL4A5NM_000495.4(COL4A5): c.2554G> A (p.Gly852Arg)single nucleotide variantPathogenicrs104886186GRCh37Chr X, 107863533: 107863533
333COL4A5NM_000495.4(COL4A5): c.2555G> A (p.Gly852Glu)single nucleotide variantPathogenicrs104886187GRCh37Chr X, 107863534: 107863534
334COL4A5NM_000495.4(COL4A5): c.2578G> C (p.Gly860Arg)single nucleotide variantPathogenicrs281874697GRCh37Chr X, 107863557: 107863557
335COL4A5p.Ser864_Gly875deldeletionPathogenic
336COL4A5NM_000495.4(COL4A5): c.2595_2612del18 (p.Ile867_Gly872del)deletionPathogenicrs104886355GRCh37Chr X, 107863574: 107863591
337COL4A5NM_000495.4(COL4A5): c.2597G> A (p.Gly866Glu)single nucleotide variantPathogenicrs104886188GRCh37Chr X, 107863576: 107863576
338COL4A5NM_000495.4(COL4A5): c.2643delG (p.Leu882Phefs)deletionPathogenicrs104886200GRCh37Chr X, 107863622: 107863622
339COL4A5NM_000495.4(COL4A5): c.2605G> A (p.Gly869Arg)single nucleotide variantPathogenicrs104886189GRCh37Chr X, 107863584: 107863584
340COL4A5NM_000495.4(COL4A5): c.2614G> C (p.Gly872Arg)single nucleotide variantPathogenicrs104886190GRCh37Chr X, 107863593: 107863593
341COL4A5NM_000495.4(COL4A5): c.2624G> A (p.Gly875Glu)single nucleotide variantPathogenicrs104886191GRCh37Chr X, 107863603: 107863603
342COL4A5NM_000495.4(COL4A5): c.2625delA (p.Pro876Leufs)deletionPathogenicrs104886198GRCh37Chr X, 107863604: 107863604
343COL4A5NM_000495.4(COL4A5): c.2633G> T (p.Gly878Val)single nucleotide variantPathogenicrs104886199GRCh37Chr X, 107863612: 107863612
344COL4A5NM_000495.4(COL4A5): c.2659G> C (p.Gly887Arg)single nucleotide variantPathogenicrs281874699GRCh37Chr X, 107863638: 107863638
345COL4A5NM_000495.4(COL4A5): c.2660G> T (p.Gly887Val)single nucleotide variantPathogenicrs104886201GRCh37Chr X, 107863639: 107863639
346COL4A5NM_000495.4(COL4A5): c.2678-10T> Gsingle nucleotide variantPathogenicrs104886360GRCh37Chr X, 107865023: 107865023
347COL4A5NM_000495.4(COL4A5): c.2678-?_3246+?deldeletionPathogenic
348COL4A5NM_000495.4(COL4A5): c.2686delG (p.Gly896Valfs)deletionPathogenicrs281874700GRCh37Chr X, 107865041: 107865041
349COL4A5NM_000495.4(COL4A5): c.2692A> G (p.Met898Val)single nucleotide variantPathogenicrs104886192GRCh37Chr X, 107865047: 107865047
350COL4A5NM_000495.4(COL4A5): c.2705G> A (p.Gly902Glu)single nucleotide variantPathogenicrs104886361GRCh37Chr X, 107865060: 107865060
351COL4A5NM_000495.4(COL4A5): c.2708dupC (p.Pro904Serfs)duplicationPathogenicrs104886362GRCh37Chr X, 107865063: 107865063
352COL4A5NM_000495.4(COL4A5): c.2722G> A (p.Gly908Arg)single nucleotide variantPathogenicrs281874703GRCh37Chr X, 107865077: 107865077
353COL4A5NM_000495.4(COL4A5): c.2731G> A (p.Gly911Arg)single nucleotide variantPathogenicrs281874704GRCh37Chr X, 107865086: 107865086
354COL4A5NM_000495.4(COL4A5): c.2732G> A (p.Gly911Glu)single nucleotide variantPathogenicrs104886363GRCh37Chr X, 107865087: 107865087
355COL4A5NP_203699.1: p.Ser916fsindelPathogenic
356COL4A5NM_000495.4(COL4A5): c.2746A> G (p.Ser916Gly)single nucleotide variantPathogenicrs104886193GRCh37Chr X, 107865101: 107865101
357COL4A5NM_000495.4(COL4A5): c.2767+2delTdeletionPathogenicrs104886366GRCh37Chr X, 107865124: 107865124
358COL4A5NM_000495.4(COL4A5): c.2782C> T (p.Gln928Ter)single nucleotide variantPathogenicrs281874705GRCh37Chr X, 107865920: 107865920
359COL4A5NM_000495.4(COL4A5): c.2788C> T (p.Gln930Ter)single nucleotide variantPathogenicrs104886194GRCh37Chr X, 107865926: 107865926
360COL4A5NM_000495.4(COL4A5): c.2802dupT (p.Gly935Trpfs)duplicationPathogenicrs104886368GRCh37Chr X, 107865940: 107865940
361COL4A5NM_000495.4(COL4A5): c.2804G> A (p.Gly935Asp)single nucleotide variantPathogenicrs104886195GRCh37Chr X, 107865942: 107865942
362COL4A5NM_000495.4(COL4A5): c.2821G> T (p.Gly941Cys)single nucleotide variantPathogenicrs104886196GRCh37Chr X, 107865959: 107865959
363COL4A5NM_000495.4(COL4A5): c.2823_2825delTAG (p.Ser942del)deletionPathogenicrs104886369GRCh37Chr X, 107865961: 107865963
364COL4A5NM_000495.4(COL4A5): c.2840G> A (p.Gly947Asp)single nucleotide variantPathogenicrs104886370GRCh37Chr X, 107865978: 107865978
365COL4A5NM_000495.4(COL4A5): c.2846delC (p.Pro949Glnfs)deletionPathogenicrs104886197GRCh37Chr X, 107865984: 107865984
366COL4A5NM_000495.4(COL4A5): c.2858G> T (p.Gly953Val)single nucleotide variantPathogenicrs78972735GRCh37Chr X, 107865996: 107865996
367COL4A5NM_000495.4(COL4A5): c.2917+1G> Csingle nucleotide variantPathogenicrs104886371GRCh37Chr X, 107866056: 107866056
368COL4A5NM_000495.4(COL4A5): c.2917+1G> Tsingle nucleotide variantPathogenicrs104886371GRCh37Chr X, 107866056: 107866056
369COL4A5NM_000495.4(COL4A5): c.2918-1G> Tsingle nucleotide variantPathogenicrs104886372GRCh37Chr X, 107867465: 107867465
370COL4A5NP_203699.1: p.Val977fsdeletionPathogenic
371COL4A5NM_000495.4(COL4A5): c.2943delA (p.Gly982Valfs)deletionPathogenicrs104886204GRCh37Chr X, 107867491: 107867491
372COL4A5NM_000495.4(COL4A5): c.2959_2976del18 (p.Asp989_Gly994del)deletionPathogenicrs104886374GRCh37Chr X, 107867507: 107867524
373COL4A5NM_000495.4(COL4A5): c.2965delG (p.Asp989Thrfs)deletionPathogenicrs104886206GRCh37Chr X, 107867513: 107867513
374COL4A5NM_000495.4(COL4A5): c.3016+1G> Tsingle nucleotide variantPathogenicrs104886377GRCh37Chr X, 107867565: 107867565
375COL4A5NM_000495.4(COL4A5): c.3017-1G> Asingle nucleotide variantPathogenicrs104886378GRCh37Chr X, 107868934: 107868934
376COL4A5NM_000495.4(COL4A5): c.3017G> T (p.Gly1006Val)single nucleotide variantPathogenicrs104886202GRCh37Chr X, 107868935: 107868935
377COL4A5NM_000495.4(COL4A5): c.3044G> T (p.Gly1015Val)single nucleotide variantPathogenicrs104886211GRCh37Chr X, 107868962: 107868962
378COL4A5NM_000495.4(COL4A5): c.3046C> T (p.Gln1016Ter)single nucleotide variantPathogenicrs104886207GRCh37Chr X, 107868964: 107868964
379COL4A5NM_000495.4(COL4A5): c.3057delT (p.Ile1020Terfs)deletionPathogenicrs104886208GRCh37Chr X, 107868975: 107868975
380COL4A5NM_000495.4(COL4A5): c.3080G> T (p.Gly1027Val)single nucleotide variantPathogenicrs104886209GRCh37Chr X, 107868998: 107868998
381COL4A5NM_000495.4(COL4A5): c.3088G> A (p.Gly1030Ser)single nucleotide variantPathogenicrs104886210GRCh37Chr X, 107869006: 107869006
382COL4A5NP_203699.1: p.?deletionPathogenic
383COL4A5NM_000495.4(COL4A5): c.3107-2A> Gsingle nucleotide variantPathogenicrs104886379GRCh37Chr X, 107869438: 107869438
384COL4A5NM_000495.4(COL4A5): c.3107G> T (p.Gly1036Val)single nucleotide variantPathogenicrs104886212GRCh37Chr X, 107869440: 107869440
385COL4A5NM_000495.4(COL4A5): c.3115G> A (p.Gly1039Ser)single nucleotide variantPathogenicrs104886214GRCh37Chr X, 107869448: 107869448
386COL4A5NM_000495.4(COL4A5): c.3134G> A (p.Gly1045Glu)single nucleotide variantPathogenicrs104886215GRCh37Chr X, 107869467: 107869467
387COL4A5NM_000495.4(COL4A5): c.3167delC (p.Pro1056Glnfs)deletionPathogenicrs281874711GRCh37Chr X, 107869500: 107869500
388COL4A5NM_000495.4(COL4A5): c.3169G> T (p.Gly1057Ter)single nucleotide variantPathogenicrs104886216GRCh37Chr X, 107869502: 107869502
389COL4A5NM_000495.4(COL4A5): c.3178G> T (p.Gly1060Ter)single nucleotide variantPathogenicrs104886217GRCh37Chr X, 107869511: 107869511
390COL4A5NM_000495.4(COL4A5): c.3181C> T (p.Gln1061Ter)single nucleotide variantPathogenicrs104886213GRCh37Chr X, 107869514: 107869514
391COL4A5NM_000495.4(COL4A5): c.3188G> T (p.Gly1063Val)single nucleotide variantPathogenicrs104886218GRCh37Chr X, 107869521: 107869521
392COL4A5NM_000495.4(COL4A5): c.3196G> C (p.Gly1066Arg)single nucleotide variantPathogenicrs104886219GRCh37Chr X, 107869529: 107869529
393COL4A5NM_000495.4(COL4A5): c.3196G> A (p.Gly1066Ser)single nucleotide variantPathogenicrs104886219GRCh37Chr X, 107869529: 107869529
394COL4A5NM_000495.4(COL4A5): c.3197G> C (p.Gly1066Ala)single nucleotide variantPathogenicrs104886221GRCh37Chr X, 107869530: 107869530
395COL4A5NM_000495.4(COL4A5): c.3206G> T (p.Gly1069Val)single nucleotide variantPathogenicrs281874712GRCh37Chr X, 107869539: 107869539
396COL4A5NM_000495.4(COL4A5): c.3212C> G (p.Ser1071Ter)single nucleotide variantPathogenicrs104886222GRCh37Chr X, 107869545: 107869545
397COL4A5NM_000495.4(COL4A5): c.3247G> A (p.Gly1083Ser)single nucleotide variantPathogenicrs104886223GRCh37Chr X, 107898561: 107898561
398COL4A5NM_033380.2(COL4A5): c.3247-?_3373+?del (p.(?))deletionPathogenicGRCh37Chr X, 107898561: 107898687
399COL4A5NM_000495.4(COL4A5): c.3247-?_5058+?deldeletionPathogenic
400COL4A5NM_033380.2(COL4A5): c.3247-?_3373+?del (p.(?))deletionPathogenicGRCh37Chr X, 107898561: 107898687
401COL4A5NM_000495.4(COL4A5): c.3256G> C (p.Gly1086Arg)single nucleotide variantPathogenicrs104886231GRCh37Chr X, 107898570: 107898570
402COL4A5NM_000495.4(COL4A5): c.3257G> A (p.Gly1086Asp)single nucleotide variantPathogenicrs104886232GRCh37Chr X, 107898571: 107898571
403COL4A5NM_000495.4(COL4A5): c.3289A> T (p.Lys1097Ter)single nucleotide variantPathogenicrs104886233GRCh37Chr X, 107898603: 107898603
404COL4A5NM_000495.4(COL4A5): c.3311G> T (p.Gly1104Val)single nucleotide variantPathogenicrs104886224GRCh37Chr X, 107898625: 107898625
405COL4A5NM_000495.4(COL4A5): c.3319G> A (p.Gly1107Arg)single nucleotide variantPathogenicrs104886225GRCh37Chr X, 107898633: 107898633
406COL4A5NM_000495.4(COL4A5): c.3326_3327insT (p.Gly1110Argfs)insertionPathogenicrs397515492GRCh37Chr X, 107898640: 107898641
407COL4A5NM_000495.4(COL4A5): c.3331delA (p.Thr1111Profs)deletionPathogenicrs104886226GRCh37Chr X, 107898645: 107898645
408COL4A5NM_000495.4(COL4A5): c.3334_3337dupCCTG (p.Gly1113Alafs)duplicationPathogenicrs104886380GRCh37Chr X, 107898648: 107898651
409COL4A5NM_000495.4(COL4A5): c.3347G> T (p.Gly1116Val)single nucleotide variantPathogenicrs281874713GRCh37Chr X, 107898661: 107898661
410COL4A5NM_000495.4(COL4A5): c.3373+1G> Asingle nucleotide variantPathogenicrs281874714GRCh37Chr X, 107898688: 107898688
411COL4A5NM_000495.4(COL4A5): c.3374-11C> Asingle nucleotide variantPathogenicrs104886387GRCh37Chr X, 107908726: 107908726
412COL4A5NM_000495.4(COL4A5): c.3374-?_3790+?deldeletionPathogenicGRCh37Chr X, 107898688: 107913457
413COL4A5NM_000495.3(COL4A5): c.3374-?_5058+?deldeletionPathogenic
414COL4A5NP_203699.1: p.?duplicationPathogenic
415COL4A5NM_000495.4(COL4A5): c.3403_3418del16ins3indelPathogenicrs672601246GRCh37Chr X, 107908766: 107908781
416COL4A5NM_000495.4(COL4A5): c.3413delC (p.Pro1138Leufs)deletionPathogenicrs104886227GRCh37Chr X, 107908776: 107908776
417COL4A5NM_000495.4(COL4A5): c.3427G> A (p.Gly1143Ser)single nucleotide variantPathogenicrs104886228GRCh37Chr X, 107908790: 107908790
418COL4A5NM_000495.4(COL4A5): c.3454+1G> Tsingle nucleotide variantPathogenicrs281874715GRCh37Chr X, 107908818: 107908818
419COL4A5NM_000495.4(COL4A5): c.3455-9A> Gsingle nucleotide variantPathogenicrs104886388GRCh37Chr X, 107909717: 107909717
420COL4A5NM_000495.4(COL4A5): c.3472G> T (p.Gly1158Trp)single nucleotide variantPathogenicrs104886389GRCh37Chr X, 107909743: 107909743
421COL4A5NM_000495.4(COL4A5): c.3474delG (p.Gln1159Asnfs)deletionPathogenicrs104886234GRCh37Chr X, 107909745: 107909745
422COL4A5NM_000495.4(COL4A5): c.3481G> A (p.Gly1161Arg)single nucleotide variantPathogenicrs104886235GRCh37Chr X, 107909752: 107909752
423COL4A5NM_000495.4(COL4A5): c.3499G> A (p.Gly1167Ser)single nucleotide variantPathogenicrs104886236GRCh37Chr X, 107909770: 107909770
424COL4A5NM_000495.4(COL4A5): c.3508G> A (p.Gly1170Ser)single nucleotide variantPathogenicrs104886237GRCh37Chr X, 107909779: 107909779
425COL4A5NM_000495.4(COL4A5): c.3509delG (p.Gly1170Valfs)deletionPathogenicrs104886238GRCh37Chr X, 107909780: 107909780
426COL4A5NM_000495.4(COL4A5): c.3527delG (p.Gly1176Aspfs)deletionPathogenicrs104886239GRCh37Chr X, 107909798: 107909798
427COL4A5NM_000495.4(COL4A5): c.3535G> A (p.Gly1179Arg)single nucleotide variantPathogenicrs104886240GRCh37Chr X, 107909806: 107909806
428COL4A5NM_000495.4(COL4A5): c.3538C> T (p.Gln1180Ter)single nucleotide variantPathogenicrs104886241GRCh37Chr X, 107909809: 107909809
429COL4A5NM_000495.4(COL4A5): c.3543_3549delGGGTGAA (p.Lys1181Asnfs)deletionPathogenicrs281874716GRCh37Chr X, 107909814: 107909820
430COL4A5NM_000495.4(COL4A5): c.3544G> C (p.Gly1182Arg)single nucleotide variantPathogenicrs104886242GRCh37Chr X, 107909815: 107909815
431COL4A5NM_000495.4(COL4A5): c.3554-9C> Gsingle nucleotide variantPathogenicrs104886383GRCh37Chr X, 107910354: 107910354
432COL4A5NM_000495.4(COL4A5): c.3554-3C> Gsingle nucleotide variantPathogenicrs104886382GRCh37Chr X, 107910360: 107910360
433COL4A5NM_000495.4(COL4A5): c.3554-1G> Asingle nucleotide variantPathogenicrs104886381GRCh37Chr X, 107910362: 107910362
434COL4A5COL4A5: c.3554-?_3604+?del (p.?)deletionPathogenicGRCh37Chr X, 107909825: 107911548
435COL4A5NM_000495.4(COL4A5): c.3586G> A (p.Gly1196Arg)single nucleotide variantPathogenicrs104886244GRCh37Chr X, 107910395: 107910395
436COL4A5NM_000495.4(COL4A5): c.3587G> A (p.Gly1196Glu)single nucleotide variantPathogenicrs281874717GRCh37Chr X, 107910396: 107910396
437COL4A5NP_203699.1: p.?single nucleotide variantPathogenic
438COL4A5NP_203699.1: p.?single nucleotide variantPathogenic
439COL4A5NM_000495.4(COL4A5): c.3605-2A> Gsingle nucleotide variantPathogenicrs104886385GRCh37Chr X, 107911547: 107911547
440COL4A5NM_000495.4(COL4A5): c.3605-1G> Asingle nucleotide variantPathogenicrs104886384GRCh37Chr X, 107911548: 107911548
441COL4A5NM_000495.3(COL4A5): c.3605-?_5058+?deldeletionPathogenic
442COL4A5NM_000495.4(COL4A5): c.3613G> T (p.Gly1205Cys)single nucleotide variantPathogenicrs104886245GRCh37Chr X, 107911557: 107911557
443COL4A5NM_000495.4(COL4A5): c.3613G> A (p.Gly1205Ser)single nucleotide variantPathogenicrs104886245GRCh37Chr X, 107911557: 107911557
444COL4A5NP_203699.1: p.Asp1206fsdeletionPathogenic
445COL4A5NM_000495.4(COL4A5): c.3631G> C (p.Gly1211Arg)single nucleotide variantPathogenicrs104886246GRCh37Chr X, 107911575: 107911575
446COL4A5NM_000495.4(COL4A5): c.3632G> A (p.Gly1211Glu)single nucleotide variantPathogenicrs104886247GRCh37Chr X, 107911576: 107911576
447COL4A5NM_000495.4(COL4A5): c.3641G> A (p.Gly1214Glu)single nucleotide variantPathogenicrs104886248GRCh37Chr X, 107911585: 107911585
448COL4A5NM_000495.4(COL4A5): c.3647delC (p.Pro1216Leufs)deletionPathogenicrs104886249GRCh37Chr X, 107911591: 107911591
449COL4A5NM_000495.4(COL4A5): c.3657_3728del72 (p.Lys1222_Pro1245del)deletionPathogenicrs104886391GRCh37Chr X, 107911601: 107911672
450COL4A5NM_000495.4(COL4A5): c.3659G> A (p.Gly1220Asp)single nucleotide variantPathogenicrs104886251GRCh37Chr X, 107911603: 107911603
451COL4A5NM_000495.4(COL4A5): c.3668G> T (p.Gly1223Val)single nucleotide variantPathogenicrs104886252GRCh37Chr X, 107911612: 107911612
452COL4A5NM_000495.4(COL4A5): c.3686G> A (p.Gly1229Asp)single nucleotide variantPathogenicrs104886253GRCh37Chr X, 107911630: 107911630
453COL4A5NM_000495.4(COL4A5): c.3692delC (p.Pro1231Leufs)deletionPathogenicrs104886254GRCh37Chr X, 107911636: 107911636
454COL4A5NM_000495.4(COL4A5): c.3692dupC (p.Gly1232Trpfs)duplicationPathogenicrs281874718GRCh37Chr X, 107911636: 107911636
455COL4A5NM_000495.4(COL4A5): c.3694G> A (p.Gly1232Ser)single nucleotide variantPathogenicrs104886250GRCh37Chr X, 107911638: 107911638
456COL4A5NM_000495.4(COL4A5): c.3700C> T (p.Gln1234Ter)single nucleotide variantPathogenicrs281874719GRCh37Chr X, 107911644: 107911644
457COL4A5NM_000495.4(COL4A5): c.3706_3722del17insT (p.Pro1236Phefs)indelPathogenicrs281874720GRCh37Chr X, 107911650: 107911666
458COL4A5NM_000495.4(COL4A5): c.3710_3761del52 (p.Pro1237Leufs)deletionPathogenicrs104886393GRCh37Chr X, 107911654: 107911705
459COL4A5NM_000495.4(COL4A5): c.3709_3710dupCC (p.Gly1238Glnfs)duplicationPathogenicrs104886392GRCh37Chr X, 107911653: 107911654
460COL4A5NM_000495.4(COL4A5): c.3721G> T (p.Gly1241Cys)single nucleotide variantPathogenicrs104886255GRCh37Chr X, 107911665: 107911665
461COL4A5NM_000495.4(COL4A5): c.3722G> T (p.Gly1241Val)single nucleotide variantPathogenicrs281874721GRCh37Chr X, 107911666: 107911666
462COL4A5NM_000495.4(COL4A5): c.3731G> A (p.Gly1244Asp)single nucleotide variantPathogenicrs104886261GRCh37Chr X, 107911675: 107911675
463COL4A5NM_000495.4(COL4A5): c.3754G> A (p.Gly1252Ser)single nucleotide variantPathogenicrs104886262GRCh37Chr X, 107911698: 107911698
464COL4A5NM_000495.4(COL4A5): c.3754_3757dupGGCA (p.Asn1253Argfs)duplicationPathogenicrs104886394GRCh37Chr X, 107911698: 107911701
465COL4A5NM_000495.4(COL4A5): c.3763G> A (p.Gly1255Arg)single nucleotide variantPathogenicrs104886263GRCh37Chr X, 107911707: 107911707
466COL4A5NM_000495.4(COL4A5): c.3782G> A (p.Gly1261Glu)single nucleotide variantPathogenicrs104886264GRCh37Chr X, 107911726: 107911726
467COL4A5NM_000495.4(COL4A5): c.3790+1delGdeletionPathogenicrs104886256GRCh37Chr X, 107911735: 107911735
468COL4A5COL4A5: c.3791-?_3924+?del (p.?)deletionPathogenicGRCh37Chr X, 107917984: 107923908
469COL4A5NM_000495.4(COL4A5): c.3808G> A (p.Gly1270Ser)single nucleotide variantPathogenicrs104886257GRCh37Chr X, 107920747: 107920747
470COL4A5NM_000495.4(COL4A5): c.3814delC (p.Pro1272Glnfs)deletionPathogenicrs104886258GRCh37Chr X, 107920753: 107920753
471COL4A5NM_000495.4(COL4A5): c.3866_3869dupAACC (p.Gly1291Thrfs)duplicationPathogenicrs606231370GRCh37Chr X, 107920805: 107920808
472COL4A5NM_000495.4(COL4A5): c.3920delT (p.Leu1307Profs)deletionPathogenicrs104886259GRCh37Chr X, 107920859: 107920859
473COL4A5NM_000495.4(COL4A5): c.3924G> C (p.Gln1308His)single nucleotide variantPathogenicrs281874724GRCh37Chr X, 107920863: 107920863
474COL4A5NM_033380.2(COL4A5): c.3942+1G> C (p.?)single nucleotide variantPathogenicrs483352870GRCh37Chr X, 107920864: 107920864
475COL4A5NM_000495.4(COL4A5): c.3925-2A> Gsingle nucleotide variantPathogenicrs587776400GRCh37Chr X, 107923907: 107923907
476COL4A5NM_000495.4(COL4A5): c.3925-1G> Asingle nucleotide variantPathogenicrs281874725GRCh37Chr X, 107923908: 107923908
477COL4A5NM_000495.4(COL4A5): c.3925-?_4069+?deldeletionPathogenic
478COL4A5NM_000495.4(COL4A5): c.3958A> T (p.Lys1320Ter)single nucleotide variantPathogenicrs104886260GRCh37Chr X, 107923942: 107923942
479COL4A5NM_000495.4(COL4A5): c.3992delT (p.Phe1331Serfs)deletionPathogenicrs104886265GRCh37Chr X, 107923976: 107923976
480COL4A5NM_000495.4(COL4A5): c.3997G> A (p.Gly1333Ser)single nucleotide variantPathogenicrs104886266GRCh37Chr X, 107923981: 107923981
481COL4A5NM_000495.4(COL4A5): c.3998-2A> Tsingle nucleotide variantPathogenicrs104886397GRCh37Chr X, 107924113: 107924113
482COL4A5NM_000495.4(COL4A5): c.3998-2A> Gsingle nucleotide variantPathogenicrs104886397GRCh37Chr X, 107924113: 107924113
483COL4A5NM_000495.4(COL4A5): c.4006G> T (p.Gly1336Ter)single nucleotide variantPathogenicGRCh37Chr X, 107924123: 107924123
484COL4A5p.Pro1350_Gly1351del,p.Gly1348GludeletionPathogenic
485COL4A5NM_000495.4(COL4A5): c.4069G> A (p.Gly1357Ser)single nucleotide variantPathogenicrs104886267GRCh37Chr X, 107924186: 107924186
486COL4A5NM_000495.4(COL4A5): c.4069+1G> Asingle nucleotide variantPathogenicrs587776401GRCh37Chr X, 107924187: 107924187
487COL4A5NP_203699.1: p.?deletionPathogenic
488COL4A5NM_000495.4(COL4A5): c.4071delT (p.Pro1358Leufs)deletionPathogenicrs104886268GRCh37Chr X, 107924991: 107924991
489COL4A5NM_000495.4(COL4A5): c.4102_4103delAG (p.Ser1368Tyrfs)deletionPathogenicrs104886403GRCh37Chr X, 107925022: 107925023
490COL4A5NM_000495.4(COL4A5): c.4136G> T (p.Gly1379Val)single nucleotide variantPathogenicrs104886269GRCh37Chr X, 107925056: 107925056
491COL4A5NM_000495.4(COL4A5): c.4147C> T (p.Gln1383Ter)single nucleotide variantPathogenicrs281874727GRCh37Chr X, 107925067: 107925067
492COL4A5NM_000495.4(COL4A5): c.4161_4162insTCCT (p.Gly1388Serfs)insertionPathogenicrs606231371GRCh37Chr X, 107925081: 107925082
493COL4A5NM_000495.4(COL4A5): c.4171G> T (p.Gly1391Ter)single nucleotide variantPathogenicrs281874728GRCh37Chr X, 107925091: 107925091
494COL4A5NM_000495.4(COL4A5): c.4177C> T (p.Gln1393Ter)single nucleotide variantPathogenicrs104886405GRCh37Chr X, 107925097: 107925097
495COL4A5NM_000495.4(COL4A5): c.4177delC (p.Gln1393Lysfs)deletionPathogenicrs281874729GRCh37Chr X, 107925097: 107925097
496COL4A5NM_000495.4(COL4A5): c.4196dupC (p.Gly1400Argfs)duplicationPathogenicrs104886409GRCh37Chr X, 107925116: 107925116
497COL4A5NM_000495.4(COL4A5): c.4199-1G> Asingle nucleotide variantPathogenicrs587776402GRCh37Chr X, 107929260: 107929260
498COL4A5NP_203699.1: p.?deletionPathogenic
499COL4A5NM_000495.4(COL4A5): c.4214dupC (p.Gly1406Argfs)duplicationPathogenicrs281874731GRCh37Chr X, 107929276: 107929276
500COL4A5NM_000495.4(COL4A5): c.4228C> T (p.Arg1410Cys)single nucleotide variantPathogenicrs104886270GRCh37Chr X, 107929290: 107929290
501COL4A5NM_000495.4(COL4A5): c.4261G> T (p.Gly1421Trp)single nucleotide variantPathogenicrs104886272GRCh37Chr X, 107929323: 107929323
502COL4A5NM_000495.4(COL4A5): c.4279G> T (p.Gly1427Cys)single nucleotide variantPathogenicrs104886273GRCh37Chr X, 107929341: 107929341
503COL4A5NM_000495.4(COL4A5): c.4280G> T (p.Gly1427Val)single nucleotide variantPathogenicrs104886274GRCh37Chr X, 107929342: 107929342
504COL4A5NM_000495.4(COL4A5): c.4297+1G> Asingle nucleotide variantPathogenicrs587776403GRCh37Chr X, 107929360: 107929360
505COL4A5NM_033380.2(COL4A5): c.4316-1G> C (p.?)single nucleotide variantPathogenicrs281874734GRCh37Chr X, 107930711: 107930711
506COL4A5NP_203699.1: p.?deletionPathogenic
507COL4A5NM_000495.4(COL4A5)duplicationPathogenicrs281874736GRCh37Chr X, 107930729: 107930764
508COL4A5NM_000495.4(COL4A5): c.4324G> C (p.Gly1442Arg)single nucleotide variantPathogenicrs104886276GRCh37Chr X, 107930738: 107930738
509COL4A5NM_000495.4(COL4A5): c.4325_4351del27 (p.Asp1444_Pro1452del)deletionPathogenicrs104886412GRCh37Chr X, 107930739: 107930765
510COL4A5NM_000495.4(COL4A5): c.4351G> A (p.Gly1451Ser)single nucleotide variantPathogenicrs104886280GRCh37Chr X, 107930765: 107930765
511COL4A5NM_000495.4(COL4A5): c.4325G> C (p.Gly1442Ala)single nucleotide variantPathogenicrs104886277GRCh37Chr X, 107930739: 107930739
512COL4A5NM_000495.4(COL4A5): c.4325G> A (p.Gly1442Asp)single nucleotide variantPathogenicrs104886277GRCh37Chr X, 107930739: 107930739
513COL4A5NM_000495.4(COL4A5): c.4342G> A (p.Gly1448Ser)single nucleotide variantPathogenicrs104886279GRCh37Chr X, 107930756: 107930756
514COL4A5NM_000495.4(COL4A5): c.4344_4345insT (p.Pro1449Serfs)duplicationPathogenicrs104886418GRCh37Chr X, 107930758: 107930758
515COL4A5NM_000495.4(COL4A5): c.4349delC (p.Pro1450Glnfs)deletionPathogenicrs104886275GRCh37Chr X, 107930763: 107930763
516COL4A5NM_000495.4(COL4A5): c.4436_4437delGA (p.Gly1479Aspfs)deletionPathogenicrs104886420GRCh37Chr X, 107930850: 107930851
517COL4A5NM_000495.4(COL4A5): c.4437delA (p.Thr1480Hisfs)deletionPathogenicrs104886281GRCh37Chr X, 107930851: 107930851
518COL4A5NM_000495.4(COL4A5): c.4457G> C (p.Gly1486Ala)single nucleotide variantPathogenicrs104886282GRCh37Chr X, 107930871: 107930871
519COL4A5NM_000495.4(COL4A5): c.4463C> T (p.Ser1488Phe)single nucleotide variantPathogenicrs104886283GRCh37Chr X, 107930877: 107930877
520COL4A5NM_000495.4(COL4A5): c.4491_4492delAG (p.Arg1497Serfs)deletionPathogenicrs104886421GRCh37Chr X, 107930905: 107930906
521COL4A5NM_000495.4(COL4A5): c.4493C> A (p.Ala1498Asp)single nucleotide variantPathogenicrs104886284GRCh37Chr X, 107930907: 107930907
522COL4A5NM_000495.4(COL4A5): c.4501C> T (p.Gln1501Ter)single nucleotide variantPathogenicrs281874741GRCh37Chr X, 107930915: 107930915
523COL4A5NM_000495.4(COL4A5): c.4510+1G> Csingle nucleotide variantPathogenicrs104886413GRCh37Chr X, 107930925: 107930925
524COL4A5NM_000495.4(COL4A5): c.4513delA (p.Thr1505Argfs)deletionPathogenicrs281874742GRCh37Chr X, 107935980: 107935980
525COL4A5NP_203699.1: p.Thr1505fsindelPathogenic
526COL4A5NM_000495.4(COL4A5): c.4549C> A (p.Pro1517Thr)single nucleotide variantPathogenicrs201220208GRCh37Chr X, 107936016: 107936016
527COL4A5NM_000495.4(COL4A5): c.4563C> A (p.Cys1521Ter)single nucleotide variantPathogenicrs104886292GRCh37Chr X, 107936030: 107936030
528COL4A5NM_000495.4(COL4A5): c.4613G> C (p.Trp1538Ser)single nucleotide variantPathogenicrs104886293GRCh37Chr X, 107936080: 107936080
529COL4A5NM_000495.4(COL4A5): c.4614G> A (p.Trp1538Ter)single nucleotide variantPathogenicrs104886294GRCh37Chr X, 107936081: 107936081
530COL4A5NP_203699.1: p.Ser1562fsdeletionPathogenic
531COL4A5NM_000495.4(COL4A5): c.4687C> T (p.Arg1563Ter)single nucleotide variantPathogenicrs104886286GRCh37Chr X, 107936154: 107936154
532COL4A5NM_000495.4(COL4A5): c.4690T> C (p.Cys1564Arg)single nucleotide variantPathogenicrs281874745GRCh37Chr X, 107938038: 107938038
533COL4A5NM_000495.4(COL4A5): c.4688G> A (p.Arg1563Gln)single nucleotide variantPathogenicrs281874743GRCh37Chr X, 107936155: 107936155
534COL4A5NM_000495.4(COL4A5): c.4689-30_4689-9del22insCAindelPathogenicrs281874744GRCh37Chr X, 107938007: 107938028
535COL4A5NM_033380.3(COL4A5): c.4707-3_4735del (p.?)deletionPathogenicGRCh37Chr X, 107938034: 107938065
536COL4A5NM_000495.3(COL4A5): c.4689-?_5058+?deldeletionPathogenic
537COL4A5NM_000495.4(COL4A5): c.4691G> C (p.Cys1564Ser)single nucleotide variantPathogenicrs104886287GRCh37Chr X, 107938039: 107938039
538COL4A5NM_000495.4(COL4A5): c.4699T> C (p.Cys1567Arg)single nucleotide variantPathogenicrs104886288GRCh37Chr X, 107938047: 107938047
539COL4A5NM_000495.4(COL4A5): c.4702G> A (p.Glu1568Lys)single nucleotide variantPathogenicrs281874746GRCh37Chr X, 107938050: 107938050
540COL4A5NM_000495.4(COL4A5): c.4750_4756delCCCCATT (p.Pro1584Valfs)deletionPathogenicrs606231374GRCh37Chr X, 107938098: 107938104
541COL4A5NM_000495.4(COL4A5): c.4751C> T (p.Pro1584Leu)single nucleotide variantPathogenicrs281874747GRCh37Chr X, 107938099: 107938099
542COL4A5NM_000495.4(COL4A5): c.4756T> C (p.Cys1586Arg)single nucleotide variantPathogenicrs104886289GRCh37Chr X, 107938104: 107938104
543COL4A5NM_000495.4(COL4A5): c.4757G> T (p.Cys1586Phe)single nucleotide variantPathogenicrs104886290GRCh37Chr X, 107938105: 107938105
544COL4A5NM_000495.4(COL4A5): c.4766G> T (p.Gly1589Val)single nucleotide variantPathogenicrs104886291GRCh37Chr X, 107938114: 107938114
545COL4A5NM_000495.4(COL4A5): c.4768T> G (p.Trp1590Gly)single nucleotide variantPathogenicrs104886296GRCh37Chr X, 107938116: 107938116
546COL4A5NM_000495.4(COL4A5): c.4787G> A (p.Gly1596Asp)single nucleotide variantPathogenicrs104886297GRCh37Chr X, 107938135: 107938135
547COL4A5NM_000495.4(COL4A5): c.4790A> G (p.Tyr1597Cys)single nucleotide variantPathogenicrs104886298GRCh37Chr X, 107938138: 107938138
548COL4A5NM_000495.4(COL4A5): c.4791T> A (p.Tyr1597Ter)single nucleotide variantPathogenicrs104886299GRCh37Chr X, 107938139: 107938139
549COL4A5NM_000495.4(COL4A5): c.4803G> A (p.Met1601Ile)single nucleotide variantPathogenicrs104886300GRCh37Chr X, 107938151: 107938151
550COL4A5NP_203699.1: p.?insertionPathogenic
551COL4A5NM_000495.4(COL4A5): c.4803+1G> Asingle nucleotide variantPathogenicrs587776404GRCh37Chr X, 107938152: 107938152
552COL4A5NM_000495.4(COL4A5): c.4803+121T> Csingle nucleotide variantPathogenicrs104886423GRCh37Chr X, 107938272: 107938272
553COL4A5NM_033380.2(COL4A5): c.4822-151_4822-150insT (p.?)insertionPathogenicrs397515494GRCh37Chr X, 107938346: 107938347
554COL4A5NM_000495.4(COL4A5): c.4832delG (p.Gly1611Valfs)deletionPathogenicrs104886301GRCh37Chr X, 107938525: 107938525
555COL4A5NM_000495.4(COL4A5): c.4894T> G (p.Cys1632Gly)single nucleotide variantPathogenicrs281874750GRCh37Chr X, 107938587: 107938587
556COL4A5NM_000495.4(COL4A5): c.4913G> A (p.Cys1638Tyr)single nucleotide variantPathogenicrs104886302GRCh37Chr X, 107938606: 107938606
557COL4A5NM_000495.4(COL4A5): c.4968delC (p.Asp1656Glufs)deletionPathogenicrs104886304GRCh37Chr X, 107938661: 107938661
558COL4A5NM_000495.4(COL4A5): c.4976G> A (p.Ser1659Asn)single nucleotide variantPathogenicrs104886305GRCh37Chr X, 107938669: 107938669
559COL4A5NM_000495.4(COL4A5): c.4977-2A> Gsingle nucleotide variantPathogenicrs281874752GRCh37Chr X, 107939525: 107939525
560COL4A5NM_000495.4(COL4A5): c.4994_5001delCGCTGAAA (p.Thr1665Serfs)deletionPathogenicrs104886426GRCh37Chr X, 107939544: 107939551
561COL4A5NM_000495.4(COL4A5): c.5020C> T (p.Arg1674Ter)single nucleotide variantPathogenicrs281874753GRCh37Chr X, 107939570: 107939570
562COL4A5NM_000495.4(COL4A5): c.5029C> T (p.Arg1677Ter)single nucleotide variantPathogenicrs104886306GRCh37Chr X, 107939579: 107939579
563COL4A5NM_000495.4(COL4A5): c.5030G> C (p.Arg1677Pro)single nucleotide variantPathogenicrs104886308GRCh37Chr X, 107939580: 107939580
564COL4A5NM_000495.4(COL4A5): c.5032T> C (p.Cys1678Arg)single nucleotide variantPathogenicrs104886310GRCh37Chr X, 107939582: 107939582
565COL4A5NM_000495.4(COL4A5): c.5034delT (p.Gln1679Lysfs)deletionPathogenicrs104886307GRCh37Chr X, 107939584: 107939584
566COL4A5NM_000495.4(COL4A5): c.5034T> G (p.Cys1678Trp)single nucleotide variantPathogenicrs104886311GRCh37Chr X, 107939584: 107939584
567COL4A5NM_000495.4(COL4A5): c.5042G> T (p.Cys1681Phe)single nucleotide variantPathogenicrs281874754GRCh37Chr X, 107939592: 107939592
568NM_000495.4(COL4A5): c.(?_-202)-1982_(81_?)deldeletionPathogenicGRCh37Chr X, 107681172: 107683436
569COL4A5NM_000495.3(COL4A5): c.1-?_3246+?deldeletionPathogenic
570NM_000495.4(COL4A5): c.(?_-202)-1982_(81_?)deldeletionPathogenicGRCh37Chr X, 107681172: 107683436
571NM_000495.3(COL4A5): c.1-?_5058+?deldeletionPathogenicGRCh37Chr X, 107681416: 107939608
572COL4A5NM_000495.3(COL4A5): c.1-?_5058+?deldeletionPathogenic
573COL4A5c82-?_5058+?deldeletionPathogenic
574COL4A5NM_000495.4(COL4A5): c.430G> C (p.Gly144Arg)single nucleotide variantPathogenicrs104886052GRCh37Chr X, 107814688: 107814688
575COL4A5NM_000495.4(COL4A5): c.438+2T> Csingle nucleotide variantPathogenicrs281874738GRCh37Chr X, 107814698: 107814698
576COL4A5NM_000495.4(COL4A5): c.476delG (p.Gly159Valfs)deletionPathogenicrs281874748GRCh37Chr X, 107816814: 107816814
577COL4A5NM_000495.4(COL4A5): c.573_574insGA (p.Gly192Glufs)insertionPathogenicrs281874757GRCh37Chr X, 107819166: 107819167
578COL4A5NM_000495.4(COL4A5): c.665T> G (p.Phe222Cys)single nucleotide variantPathogenicrs281874761GRCh37Chr X, 107821327: 107821327
579COL4A5NM_000495.4(COL4A5): c.682G> T (p.Glu228Ter)single nucleotide variantPathogenicrs281874762GRCh37Chr X, 107821344: 107821344
580COL4A5NM_000495.4(COL4A5): c.788delC (p.Pro263Leufs)deletionPathogenicrs281874764GRCh37Chr X, 107823770: 107823770
581COL4A5NM_000495.4(COL4A5): c.1135C> T (p.Gln379Ter)single nucleotide variantPathogenicrs281874657GRCh37Chr X, 107829947: 107829947
582COL4A5NM_000495.4(COL4A5): c.1216G> A (p.Gly406Ser)single nucleotide variantPathogenicrs281874660GRCh37Chr X, 107834338: 107834338
583COL4A5NM_000495.4(COL4A5): c.1589G> A (p.Gly530Asp)single nucleotide variantPathogenicrs281874671GRCh37Chr X, 107840608: 107840608
584COL4A5NM_000495.4(COL4A5): c.1744G> A (p.Gly582Arg)single nucleotide variantPathogenicrs281874677GRCh37Chr X, 107840763: 107840763
585COL4A5NM_000495.4(COL4A5): c.1835G> A (p.Gly612Asp)single nucleotide variantPathogenicrs281874680GRCh37Chr X, 107841987: 107841987
586COL4A5NM_000495.4(COL4A5): c.1883C> T (p.Pro628Leu)single nucleotide variantPathogenicrs281874682GRCh37Chr X, 107842035: 107842035
587COL4A5c1949-?_2395+?deldeletionPathogenic
588COL4A5NM_000495.4(COL4A5): c.2014G> C (p.Gly672Arg)single nucleotide variantPathogenicrs281874685GRCh37Chr X, 107844688: 107844688
589COL4A5NM_000495.4(COL4A5): c.2164G> C (p.Gly722Arg)single nucleotide variantPathogenicrs281874687GRCh37Chr X, 107846211: 107846211
590COL4A5NM_000495.4(COL4A5)indelPathogenicrs397515495GRCh37Chr X, 107858179: 107858186
591COL4A5NM_000495.4(COL4A5): c.2483G> A (p.Gly828Glu)single nucleotide variantPathogenicrs281874695GRCh37Chr X, 107858228: 107858228
592COL4A5c2510-?_3246+?deldeletionPathogenic
593COL4A5NM_000495.4(COL4A5): c.2587_2606del20ins75 (p.?)indelPathogenicGRCh37Chr X, 107863566: 107863585
594COL4A5NM_000495.4(COL4A5): c.2623G> C (p.Gly875Arg)single nucleotide variantPathogenicrs281874698GRCh37Chr X, 107863602: 107863602
595COL4A5NM_000495.4(COL4A5): c.2678G> T (p.Gly893Val)single nucleotide variantPathogenicrs397515496GRCh37Chr X, 107865033: 107865033
596COL4A5NM_000495.4(COL4A5): c.2696_2705delGTATGATGGG (p.Gly899Aspfs)deletionPathogenicrs281874701GRCh37Chr X, 107865051: 107865060
597COL4A5NM_000495.4(COL4A5): c.2696G> T (p.Gly899Val)single nucleotide variantPathogenicrs281874702GRCh37Chr X, 107865051: 107865051
598COL4A5NM_000495.3(COL4A5): c.2918-?_5058+?deldeletionPathogenic
599COL4A5NM_000495.4(COL4A5): c.2947delT (p.Tyr983Ilefs)deletionPathogenicrs281874708GRCh37Chr X, 107867495: 107867495
600COL4A5NM_000495.4(COL4A5): c.3107-4A> Gsingle nucleotide variantPathogenicrs397515497GRCh37Chr X, 107869436: 107869436
601COL4A5NM_000495.4(COL4A5): c.3017-?_3246+?deldeletionPathogenic
602COL4A5NM_000495.4(COL4A5): c.3046delC (p.Gln1016Serfs)deletionPathogenicrs281874710GRCh37Chr X, 107868964: 107868964
603COL4A5c3247-?_4198+?deldeletionPathogenic
604COL4A5notavailableinsertionPathogenic
605COL4A5NM_000495.3(COL4A5): c.[3837_3845del;3857dupA]deletionPathogenic
606COL4A5ins10-15kb(intron46);del25kbindelPathogenic
607COL4A5NM_000495.4(COL4A5): c.4235delG (p.Gly1412Aspfs)deletionPathogenicrs281874732GRCh37Chr X, 107929297: 107929297
608COL4A5NM_000495.3: c.4253_4262del;4263_4280dupdeletionPathogenic
609COL4A5NM_000495.4(COL4A5): c.4271G> A (p.Gly1424Glu)single nucleotide variantPathogenicrs281874733GRCh37Chr X, 107929333: 107929333
610COL4A5NM_000495.4(COL4A5): c.4280G> C (p.Gly1427Ala)single nucleotide variantPathogenicrs104886274GRCh37Chr X, 107929342: 107929342
611COL4A5NM_000495.4(COL4A5): c.4298G> T (p.Gly1433Val)single nucleotide variantPathogenicrs281874735GRCh37Chr X, 107930712: 107930712
612COL4A5NM_000495.4(COL4A5): c.4439C> G (p.Thr1480Arg)single nucleotide variantPathogenicrs281874740GRCh37Chr X, 107930853: 107930853
613COL4A5ins10-15kb(intron47);del~40kb3'toCOL4A5indelPathogenic
614COL4A5NM_000495.4(COL4A5): c.4780_4781delTG (p.Trp1594Aspfs)deletionPathogenicrs281874749GRCh37Chr X, 107938128: 107938129
615COL4A5NM_000495.4(COL4A5): c.4942dupT (p.Trp1648Leufs)duplicationPathogenicrs281874751GRCh37Chr X, 107938635: 107938635
616COL4A5NM_000495.4(COL4A5): c.5030G> T (p.Arg1677Leu)single nucleotide variantPathogenicrs104886308GRCh37Chr X, 107939580: 107939580

Expression for genes affiliated with Alport Syndrome

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Search GEO for disease gene expression data for Alport Syndrome.

Pathways for genes affiliated with Alport Syndrome

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Pathways related to Alport Syndrome according to GeneCards Suite gene sharing:

(show all 20)
idSuper pathwaysScoreTop Affiliating Genes
19.0COL4A1, COL4A2
28.1COL4A1, COL4A2, COL4A3, COL4A4, COL4A5
37.7COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
4
Show member pathways
7.7COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
57.7COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
67.7COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
77.7COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
87.7COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
9
Show member pathways
7.6COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, MYH9
10
Show member pathways
7.2COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
11
Show member pathways
7.2COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
12
Show member pathways
7.2COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
137.2COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
147.2COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
15
Show member pathways
7.2COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
167.2COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
177.2COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
18
Show member pathways
7.2COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
19
Show member pathways
6.7COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
20
Show member pathways
6.7COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6

GO Terms for genes affiliated with Alport Syndrome

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Cellular components related to Alport Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1neuromuscular junctionGO:003159410.0COL4A5, MYH9
2basal laminaGO:00056059.6COL4A4, COL4A5, LAMA5
3collagen type IV trimerGO:00055878.3COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
4extracellular matrixGO:00310128.2COL4A1, COL4A2, LAMA5, MYH9
5endoplasmic reticulum lumenGO:00057887.8COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
6basement membraneGO:00056047.7COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
7extracellular regionGO:00055767.2COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6

Biological processes related to Alport Syndrome according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:003283610.3COL4A3, COL4A4
2negative regulation of angiogenesisGO:00165259.5COL4A2, COL4A3
3cellular response to amino acid stimulusGO:00712309.5COL4A1, COL4A6
4neuromuscular junction developmentGO:00075289.5COL4A1, COL4A5
5angiogenesisGO:00015258.8COL4A2, LAMA5, MYH9
6collagen catabolic processGO:00305748.0COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
7extracellular matrix organizationGO:00301986.9COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6

Molecular functions related to Alport Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052017.7COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6

Sources for Alport Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet