MCID: ALP004
MIFTS: 66

Alport Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Ear diseases, Fetal diseases categories

Aliases & Classifications for Alport Syndrome

About this section
Sources:
49OMIM, 32LifeMap Discovery®, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 65UMLS, 47Novoseek, 67UniProtKB/Swiss-Prot, 24GTR, 36MeSH, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Alport Syndrome:

Name: Alport Syndrome 49 32 10 11 45 23 12 51 65
Alport Syndrome, X-Linked 45 47 65 67
Hemorrhagic Hereditary Nephritis 45 23 65
Hereditary Nephritis 10 23 65
Congenital Hereditary Hematuria 45 23
Hemorrhagic Familial Nephritis 45 23
Alports Syndrome 47 24
Hereditary Familial Congenital Hemorrhagic Nephritis 23
Hematuria-Nephropathy-Deafness Syndrome 23
 
Hereditary Interstitial Pyelonephritis 23
Hematuric Hereditary Nephritis 23
Hereditary Hematuria Syndrome 23
Nephritis-Deafness Syndrome 67
Alport Deafness-Nephropathy 51
Nephropathy and Deafness 67
X-Linked Alport Syndrome 51
Nephritis, Hereditary 36
Apsx 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
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


External Ids:

OMIM49 301050
Disease Ontology10 DOID:10983
MeSH36 D009394
Orphanet51 63, 88917
SNOMED-CT59 57333009, 399340005
UMLS via Orphanet66 C1567741, C1567742
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 D009394

Summaries for Alport Syndrome

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OMIM:49 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), and among its related pathways are Syndecan-1-mediated signaling events and VEGFR3 signaling in lymphatic endothelium. Affiliated tissues include kidney, eye and skin, and related mouse phenotypes are hearing/vestibular/ear and other.

Disease Ontology:10 A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss.

NIH Rare Diseases:45 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

Genetics Home Reference:23 Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.

UniProtKB/Swiss-Prot:67 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.

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 164)
idRelated DiseaseScoreTop Affiliating Genes
1alport syndrome, autosomal dominant31.6COL4A3, COL4A4
2alport syndrome, autosomal recessive31.6COL4A3, COL4A4, COL4A5
3hematuria, benign familial30.8COL4A3, COL4A4, COL4A5
4leiomyomatosis10.8
5alport syndrome and thin basement membrane nephropathy10.6
6membranous nephropathy10.6
7kidney disease10.5
8basement membrane disease10.5
9esophagitis10.5
10end stage renal failure10.5
11adult syndrome10.5
12child syndrome10.5
13primary hyperoxaluria10.5
14collagen disease10.5
15urinary system disease10.5
16kid syndrome10.5
17epstein syndrome10.4
18alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis10.4
19chronic kidney failure10.4
20macular holes10.4
21connective tissue disease10.4
22retinitis10.4
23autosomal dominant charcot-marie-tooth disease type 2n10.3COL4A5, COL4A6
24renal fibrosis10.3
25impaired renal function disease10.3
26malignant ectomesenchymoma10.3COL4A1, COL4A5
27fechtner syndrome10.3
28glomerulonephritis10.3
29glomerular disease10.3
30oliver syndrome10.3
31x-linked diffuse leiomyomatosis - alport syndrome10.3
32alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome10.3
33ataxia with vitamin e deficiency10.3COL4A3, COL4A4, COL4A5
34charcot-marie-tooth neuropathy, x-linked recessive, 310.2ACSL4, AMMECR1, COL4A5
35refractory anemia with excess blasts10.2ACSL4, AMMECR1, KCNE5
36anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.2
37cataract10.2
38sensorineural hearing loss10.2
39peritonitis10.2
40renal hypertension10.2
41x-linked disease10.2
42deafness and hereditary hearing loss10.2
43leiomyomatosis, esophageal and vulval, with nephropathy10.2
44hearing loss/deafness10.2
45familial progressive cardiac conduction defect10.2COL4A1, COL4A2
46conjunctival cancer10.2CD79A, MYH9
47leiomyosarcoma10.2COL4A3, COL4A4, COL4A5, COL4A6
48chronic lymphocytic leukemia10.2ALB, COL4A5, MYH9
49oesophagostomiasis10.2ALB, CD79A
50tricuspid valve disease10.1ALB, CD79A

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:

 51 (show all 35)
  • retinopathy
  • structural anomalies of inner ear/cochlea/vestible/semicircular canals
  • sensorineural deafness/hearing loss
  • renal glomerular defect/glomerulopathy
  • x-linked dominant inheritance
  • cataract/lens opacification
  • aphakia/microphakia/spherophakia/biphakia/absence of lens/lenticone/lentiglobus
  • palpebral edema/periorbital edema
  • tinnitus
  • dry/squaly skin/exfoliation
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • chronic arterial hypertension
  • edema of the legs/lower limbs
  • renal failure
  • nephrotic syndrome
  • proteinuria
  • aseptic leukocyturia
  • facial pain/cephalalgia/migraine
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • asthenia/fatigue/weakness
  • pallor
  • corneal dystrophy
  • macular dystrophy/absence/hypoplasia of the macula
  • myopia
  • photophobia
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • situs inversus visceralis/colon/intestine trasposition/heterotaxia
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • thrombocytopenia/thrombopenia
  • colon neoplasm/tumor/carcinoma/cancer
  • uterus/uterine/cervix/endometrium neoplasm/tumor/carcinoma/cancer
  • soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma
  • autosomal dominant inheritance
  • autosomal recessive inheritance

HPO human phenotypes related to Alport Syndrome:

(show all 48)
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 x-linked dominant inheritance HP:0001423
39 heterogeneous HP:0001425
40 thrombocytopenia HP:0001873
41 microscopic hematuria HP:0002907
42 progressive HP:0003676
43 stage 5 chronic kidney disease HP:0003774
44 diffuse leiomyomatosis HP:0006756
45 ichthyosis HP:0008064
46 anterior lenticonus HP:0011501
47 diffuse glomerular basement membrane lamellation HP:0030034
48 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 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
RamiprilapprovedPhase 314187333-19-55362129
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
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
2
FluvastatinapprovedPhase 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
Fluvastatin & Primycin
Fluvastatin (INN)
Fluvastatin Sodium
Fluvastatin [INN:BAN]
Fluvastatina
Fluvastatina [INN-Spanish]
Fluvastatine
Fluvastatine [INN-French]
Fluvastatinum
Fluvastatinum [INN-Latin]
HMS2089P06
I06-2297
LS-7404
Lescol
Lescol XL
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
3
Valsartanapproved, investigationalPhase 2260137862-53-460846
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)biphenyl-4-yl]methyl}-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
Valsartan (JAN/USAN/INN)
Valsartan [USAN:INN]
valsartan
walsartan
|Tareg
4
Benazeprilapproved, investigationalPhase 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
5
Angiotensin IIPhase 298568521-88-0, 11128-99-7172198
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
Enalaprilapproved10475847-73-35362032, 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
7
Cyclophosphamideapproved, investigational252550-18-0, 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
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
8
Spironolactoneapproved1571952-01-7, 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
9
Enalaprilat10476420-72-96917719
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)
NCGC00164593-01
S1657_Selleck
SAM001246684
SBB065733
SMR000466359
Vasotec I.V.
enalprilat hydrate
10Mineralocorticoids294

Interventional clinical trials:

(show all 14)
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
3A Prospective Study of Microalbuminuria in Untreated Boys With Alport SyndromeCompletedNCT00622544
4Urinary Biomarkers of the Progression of Alport Kidney DiseaseCompletedNCT01705132
5Enalapril in Collagen Type 4 NephropathyCompletedNCT01465126
6Alport Syndrome Treatments and Outcomes RegistryRecruitingNCT00481130
7ATHENA: Natural History of Disease Study in Alport Syndrome PatientsRecruitingNCT02136862
8European Alport Therapy Registry - European Initiative Towards Delaying Renal Failure in Alport SyndromeRecruitingNCT02378805
9Aluminum and Auditory Function in ESRDRecruitingNCT00243958
10Cyclophosphamide in Lupus NephritisRecruitingNCT00441220
11Genetic Causes of FSGS, Nephrotic Syndrome, or Kidney FailureRecruitingNCT02194582
12Multi-center Controlled Clinical Trials in Alport Syndrome-A Feasibility StudyActive, not recruitingNCT01696253
13Hereditary Tubulointerstitial NephritisActive, not recruitingNCT01312727
14Human 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 Syndrome24

Anatomical Context for Alport Syndrome

About this section

MalaCards organs/tissues related to Alport Syndrome:

33
Kidney, Eye, Skin, Colon, Testes, Uterus, Cervix

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:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.4ACSL4, COL1A1, COL4A3, COL4A4, MYH9
2MP:00053958.6CFH, COL4A1, COL4A2, COL4A3, LAMA5
3MP:00053917.5CFH, COL1A1, COL4A1, COL4A2, COL4A3, MYH9
4MP:00028737.2ACSL4, ALB, CD79A, CFH, COL1A1, COL1A2
5MP:00053787.0ACSL4, COL1A1, COL1A2, COL4A1, COL4A2, COL4A3
6MP:00053846.9ALB, CD79A, COL1A1, COL1A2, COL4A1, COL4A2
7MP:00053676.7ALB, CD79A, CFH, COL4A1, COL4A3, COL4A4
8MP:00053976.4ACSL4, CD79A, CFH, COL1A1, COL4A1, COL4A2
9MP:00053856.3ACSL4, CFH, COL1A1, COL1A2, COL4A1, COL4A2
10MP:00107685.6ACSL4, ALB, CFH, COL1A1, COL1A2, COL4A1
11MP:00053765.1ACSL4, ALB, CD79A, CFH, COL1A1, COL4A1

Publications for Alport Syndrome

About this section

Articles related to Alport Syndrome:

(show top 50)    (show all 502)
idTitleAuthorsYear
1
A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome. (26168235)
2015
2
Preclinical Alterations in the Serum of COL(IV)A3(-)/(-) Mice as Early Biomarkers of Alport Syndrome. (26487288)
2015
3
Delayed diagnosis of Alport syndrome without hematuria. (24878952)
2014
4
End-stage kidney disease due to Alport syndrome: outcomes in 296 consecutive Australia and New Zealand Dialysis and Transplant Registry cases. (25061124)
2014
5
COL4A4 gene study of a European population: description of new mutations causing autosomal dominant Alport syndrome. (25755845)
2014
6
Alport syndrome in a Kazakh family: a case study. (25572247)
2014
7
Clinical and genetic features in autosomal recessive and X-linked Alport syndrome. (24178893)
2013
8
Cyclosporin A may cause injury to undifferentiated glomeruli persisting in patients with Alport syndrome. (23828692)
2013
9
Clear lens phacoemulsification in Alport syndrome: refractive results and electron microscopic analysis of the anterior lens capsule. (24170525)
2013
10
An update on the pathomechanisms and future therapies of Alport syndrome. (22903660)
2013
11
The variable course of women with X-linked Alport Syndrome. (24286007)
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
Alport syndrome: ACEIs delay RRT and increase lifespan in Alport syndrome. (22231132)
2012
14
Clinical utility gene card for: Alport syndrome. (22166944)
2012
15
Alport syndrome: significance of gingival biopsy in the initial diagnosis and periodontal evaluation after renal transplantation. (20027438)
2009
16
Molecular testing for adult type Alport syndrome. (19919694)
2009
17
A novel COL4A5 splicing mutation causing Alport syndrome in a Chinese family]. (19065523)
2008
18
Antigen retrieval with protease digestion applied in immunohistochemical diagnosis of Alport syndrome. (18524789)
2008
19
Is anterior lenticonus the most common ocular finding in Alport syndrome? (18165055)
2008
20
Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome. (17071739)
2007
21
Prenatal diagnosis and genetic counseling of X-linked Alport syndrome in China]. (17953801)
2007
22
Renal transplantation in patients with Alport syndrome. (16911486)
2006
23
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families. (16338941)
2006
24
Spectrum of clinical features and type IV collagen alpha-chain distribution in Chinese patients with Alport syndrome. (16940319)
2006
25
Gene expression analysis in a canine model of X-linked Alport syndrome. (16964446)
2006
26
Matrix metalloproteinase dysregulation in the stria vascularis of mice with Alport syndrome: implications for capillary basement membrane pathology. (15855646)
2005
27
Discordant phenotypic expression of Alport syndrome in monozygotic twins. (15524063)
2004
28
Mouse model of X-linked Alport syndrome. (15153557)
2004
29
Phenotypic and genotypic features of Alport syndrome in Chinese children. (12478350)
2002
30
Quantitative trait loci influence renal disease progression in a mouse model of Alport syndrome. (11839593)
2002
31
Bilateral macular holes: an unusual feature of alport syndrome. (12172121)
2002
32
Sporadic case of X-chromosomal Alport syndrome in a consanguineous family. (10955921)
2000
33
Insertional mutation of the collagen genes Col4a3 and Col4a4 in a mouse model of Alport syndrome. (10534397)
1999
34
Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome. (9463311)
1998
35
Alport syndrome--is there a genotype-phenotype relationship? (9269624)
1997
36
Can Alport syndrome be treated by gene therapy? (9150464)
1997
37
Immunofluorescence study of type IV collagen alpha chains in epidermal basement membrane: application in diagnosis of X-linked Alport syndrome. (9594257)
1997
38
Recent advances in Alport syndrome: the cross-fertilisation between genetics and clinical medicine. (9351295)
1997
39
Alport syndrome: clinical and genetic correlation in a type-IV collagen disease. (9399052)
1997
40
Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult-onset X-linked Alport syndrome. (8829632)
1996
41
A mutation causing Alport syndrome with tardive hearing loss is common in the western United States. (8651292)
1996
42
Molecular and functional defects in kidneys of mice lacking collagen alpha 3(IV): implications for Alport syndrome. (8947561)
1996
43
Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome. (8599366)
1995
44
Autosomal recessive Alport syndrome: mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis. (7780062)
1995
45
Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients. (7599631)
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
Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome. (1635357)
1992
49
Genetic heterogeneity among kindreds with Alport syndrome. (3728466)
1986
50
Genetic heterogeneity of Alport syndrome. (4010153)
1985

Variations for Alport Syndrome

About this section

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

67 (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 625)
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
14COL4A4NM_000092.4(COL4A4): c.3601G> A (p.Gly1201Ser)single nucleotide variantPathogenicrs121912858GRCh37Chr 2, 227896969: 227896969
15COL4A4NM_000092.4(COL4A4): c.3713C> A (p.Ser1238Ter)single nucleotide variantPathogenicrs121912859GRCh37Chr 2, 227896765: 227896765
16COL4A4NM_000092.4(COL4A4): c.4129C> T (p.Arg1377Ter)single nucleotide variantPathogenicrs121912861GRCh37Chr 2, 227886851: 227886851
17COL4A4NM_000092.4(COL4A4): c.4923C> A (p.Cys1641Ter)single nucleotide variantPathogenicrs121912862GRCh37Chr 2, 227872191: 227872191
18COL4A4NM_000092.4(COL4A4): c.4715C> T (p.Pro1572Leu)single nucleotide variantPathogenicrs121912863GRCh37Chr 2, 227872828: 227872828
19COL4A3COL4A3, 5-BP DEL, NT4414deletionPathogenic
20NM_000091.4(COL4A3): c.4441C> T (p.Arg1481Ter)single nucleotide variantPathogenicrs121912824GRCh37Chr 2, 228172614: 228172614
21NM_000091.4(COL4A3): c.4571C> G (p.Ser1524Ter)single nucleotide variantPathogenicrs121912825GRCh37Chr 2, 228173723: 228173723
22COL4A3COL4A3, ALU INS, EX6insertionPathogenic
23COL4A3COL4A3, IVS21DS, G-A, -1single nucleotide variantPathogenic
24NM_000091.4(COL4A3): c.3499G> A (p.Gly1167Arg)single nucleotide variantPathogenicrs267606745GRCh37Chr 2, 228159760: 228159760
25COL4A3COL4A3, 24-BP DEL, NT40deletionPathogenic
26COL4A5NM_000495.4(COL4A5): c.1844G> A (p.Gly615Glu)single nucleotide variantPathogenicrs794727397GRCh37Chr X, 107841996: 107841996
27COL4A5NM_000495.4(COL4A5): c.3998-1G> Asingle nucleotide variantPathogenicrs797045035GRCh37Chr X, 107924114: 107924114
28COL4A5NM_000495.4(COL4A5): c.81+1G> Csingle nucleotide variantPathogenicrs281874765GRCh37Chr X, 107683437: 107683437
29COL4A5NM_000495.4(COL4A5): c.1542_1543delAG (p.Glu516Lysfs)deletionPathogenicrs104886333GRCh37Chr X, 107840253: 107840254
30NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)deldeletionPathogenicGRCh37Chr X, 107681416: 107683436
31NM_033380.2(COL4A5): c.(?_-129378)_(81_?)del (p.?)deletionPathogenicGRCh38Chr X, 108310748: 108440206
32COL4A5NM_000495.3(COL4A5): c.1-?_81+?deldeletionPathogenic
33NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)deldeletionPathogenicGRCh37Chr X, 107681416: 107683436
34NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)deldeletionPathogenicGRCh37Chr X, 107681416: 107683436
35NM_000495.4(COL4A5): c.(?_-202)-1738_(81_?)deldeletionPathogenicGRCh37Chr X, 107681416: 107683436
36COL4A5NM_000495.4(COL4A5): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs104886050GRCh37Chr X, 107683356: 107683356
37COL4A5NP_203699.1: p.?deletionPathogenic
38COL4A5NP_203699.1: p.?deletionPathogenic
39COL4A5NP_203699.1: p.?deletionPathogenic
40COL4A5NP_203699.1: p.?deletionPathogenic
41COL4A5NP_203699.1: p.?deletionPathogenic
42COL4A5NP_203699.1: p.?deletionPathogenic
43COL4A5NP_203699.1: p.?deletionPathogenic
44COL4A5NM_000495.3(COL4A5): c.1-?_5058+?deldeletionPathogenic
45COL4A5NM_000495.4(COL4A5): c.2_3delTG (p.Met1Lysfs)deletionPathogenicrs104886376GRCh37Chr X, 107683357: 107683358
46COL4A5NM_000495.4(COL4A5): c.13G> T (p.Gly5Ter)single nucleotide variantPathogenicrs104886049GRCh37Chr X, 107683368: 107683368
47COL4A5NM_000495.4(COL4A5): c.38_41dupTCTT (p.Leu14Phefs)duplicationPathogenicrs104886408GRCh37Chr X, 107683393: 107683396
48COL4A5NM_000495.4(COL4A5): c.49_50delCT (p.Leu17Glufs)deletionPathogenicrs104886427GRCh37Chr X, 107683404: 107683405
49COL4A5NM_000495.4(COL4A5): c.65_77delAGCCTGCAGAGGC (p.Gln22Leufs)deletionPathogenicrs281874760GRCh37Chr X, 107683420: 107683432
50COL4A5NP_203699.1: p.Ala28_Lys1082dupduplicationPathogenic
51COL4A5NM_000495.4(COL4A5): c.82-?_465+?deldeletionPathogenic
52COL4A5NM_000495.4(COL4A5): c.82-?_1165+?deldeletionPathogenicGRCh37Chr X, 107782976: 107829977
53COL4A5NM_000495.4(COL4A5): c.82-?_3246+?deldeletionPathogenicGRCh37Chr X, 107782976: 107869579
54COL4A5NM_000495.4(COL4A5): c.82-?_3373+?deldeletionPathogenicGRCh37Chr X, 107683437: 107908736
55COL4A5COL4A5: c.82-?_141+?del (p.Ala28_Lys47del)deletionPathogenicGRCh37Chr X, 107683437: 107802293
56COL4A5NM_000495.4(COL4A5): c.87C> A (p.Cys29Ter)single nucleotide variantPathogenicrs104886048GRCh37Chr X, 107782981: 107782981
57COL4A5NM_000495.4(COL4A5): c.90T> G (p.Tyr30Ter)single nucleotide variantPathogenicrs104886047GRCh37Chr X, 107782984: 107782984
58COL4A5NM_000495.4(COL4A5): c.119delG (p.Cys40Serfs)deletionPathogenicrs104886042GRCh37Chr X, 107783013: 107783013
59COL4A5NM_000495.4(COL4A5): c.142-1G> Asingle nucleotide variantPathogenicrs104886323GRCh37Chr X, 107802293: 107802293
60COL4A5NM_000495.4(COL4A5): c.142-?_3373+?deldeletionPathogenicGRCh37Chr X, 107783036: 107908736
61COL4A5NM_000495.4(COL4A5): c.142-?_2677+?deldeletionPathogenicGRCh37Chr X, 107783036: 107865032
62COL4A5NM_000495.4(COL4A5): c.142G> A (p.Gly48Arg)single nucleotide variantPathogenicrs281874669GRCh37Chr X, 107802294: 107802294
63COL4A5NP_203699.1: p.Gly51fsinsertionPathogenic
64COL4A5COL4A5: c.142-?_231+?del(p.Gly48_Lys77del)deletionPathogenicGRCh37Chr X, 107783036: 107807111
65COL4A5NM_000495.4(COL4A5): c.231+1G> Asingle nucleotide variantPathogenicrs104886349GRCh37Chr X, 107802384: 107802384
66COL4A5NM_000495.4(COL4A5): c.232-1G> Tsingle nucleotide variantPathogenicrs104886350GRCh37Chr X, 107807111: 107807111
67COL4A5NM_000495.4(COL4A5): c.232-1G> Asingle nucleotide variantPathogenicrs104886350GRCh37Chr X, 107807111: 107807111
68COL4A5NM_000495.4(COL4A5): c.232-?_2041+?deldeletionPathogenicGRCh38Chr X, 108559154: 108601884
69COL4A5NM_000495.4(COL4A5): c.232-?_780+?deldeletionPathogenicGRCh38Chr X, 108563881: 108578384
70COL4A5NM_000495.4(COL4A5): c.232-?_4510+?deldeletionPathogenicGRCh37Chr X, 107802384: 107935977
71COL4A5NM_000495.4(COL4A5): c.250delG (p.Pro85Hisfs)deletionPathogenicrs104886044GRCh37Chr X, 107807130: 107807130
72COL4A5NM_000495.4(COL4A5): c.276+5G> Asingle nucleotide variantPathogenicrs104886365GRCh37Chr X, 107807161: 107807161
73COL4A5NM_000495.4(COL4A5): c.277-1G> Tsingle nucleotide variantPathogenicrs104886367GRCh37Chr X, 107811858: 107811858
74COL4A5NM_000495.4(COL4A5): c.277-?_609+?deldeletionPathogenic
75COL4A5NM_000495.4(COL4A5): c.286G> A (p.Gly96Arg)single nucleotide variantPathogenicrs281874706GRCh37Chr X, 107811868: 107811868
76COL4A5NM_000495.4(COL4A5): c.293delC (p.Pro98Leufs)deletionPathogenicrs104886045GRCh37Chr X, 107811875: 107811875
77COL4A5NM_000495.4(COL4A5): c.322-1G> Asingle nucleotide variantPathogenicrs104886375GRCh37Chr X, 107811988: 107811988
78COL4A5NM_000495.4(COL4A5): c.351_359delACCTCAAGG (p.Pro118_Gly120del)deletionPathogenicrs104886390GRCh37Chr X, 107812018: 107812026
79COL4A5NM_000495.4(COL4A5): c.368delG (p.Gly123Aspfs)deletionPathogenicrs104886046GRCh37Chr X, 107812035: 107812035
80COL4A5NM_000495.4(COL4A5): c.385-719G> Asingle nucleotide variantPathogenicrs104886396GRCh37Chr X, 107813924: 107813924
81COL4A5NM_000495.4(COL4A5): c.385-1G> Csingle nucleotide variantPathogenicrs104886395GRCh37Chr X, 107814642: 107814642
82COL4A5NM_000495.4(COL4A5): c.385G> A (p.Gly129Arg)single nucleotide variantPathogenicrs281874722GRCh37Chr X, 107814643: 107814643
83COL4A5NM_000495.4(COL4A5): c.386G> A (p.Gly129Glu)single nucleotide variantPathogenicrs281874723GRCh37Chr X, 107814644: 107814644
84COL4A5NM_000495.4(COL4A5): c.386G> T (p.Gly129Val)single nucleotide variantPathogenicrs281874723GRCh37Chr X, 107814644: 107814644
85COL4A5NM_000495.4(COL4A5): c.388G> T (p.Glu130Ter)single nucleotide variantPathogenicrs104886051GRCh37Chr X, 107814646: 107814646
86COL4A5NM_000495.4(COL4A5): c.430G> A (p.Gly144Ser)single nucleotide variantPathogenicrs104886052GRCh37Chr X, 107814688: 107814688
87COL4A5NM_000495.4(COL4A5): c.431G> A (p.Gly144Asp)single nucleotide variantPathogenicrs281874737GRCh37Chr X, 107814689: 107814689
88COL4A5NM_000495.4(COL4A5): c.438+5G> Asingle nucleotide variantPathogenicrs281874739GRCh37Chr X, 107814701: 107814701
89COL4A5NM_000495.4(COL4A5): c.440delG (p.Gly147Aspfs)deletionPathogenicrs104886053GRCh37Chr X, 107815042: 107815042
90COL4A5NM_000495.4(COL4A5): c.442dupC (p.Gly150Trpfs)duplicationPathogenicrs104886419GRCh37Chr X, 107815044: 107815044
91COL4A5NM_000495.4(COL4A5): c.446delC (p.Pro149Leufs)deletionPathogenicrs104886054GRCh37Chr X, 107815048: 107815048
92COL4A5NM_000495.4(COL4A5): c.466-17T> Gsingle nucleotide variantPathogenicrs104886415GRCh37Chr X, 107816787: 107816787
93COL4A5NM_000495.4(COL4A5): c.466-12G> Asingle nucleotide variantPathogenicrs104886414GRCh37Chr X, 107816792: 107816792
94COL4A5NM_000495.4(COL4A5): c.466-2A> Gsingle nucleotide variantPathogenicrs104886416GRCh37Chr X, 107816802: 107816802
95COL4A5NM_000495.4(COL4A5): c.520G> C (p.Gly174Arg)single nucleotide variantPathogenicrs104886055GRCh37Chr X, 107816858: 107816858
96COL4A5NM_000495.4(COL4A5): c.529G> T (p.Gly177Cys)single nucleotide variantPathogenicrs104886056GRCh37Chr X, 107816867: 107816867
97COL4A5NM_000495.4(COL4A5): c.529G> C (p.Gly177Arg)single nucleotide variantPathogenicrs104886056GRCh37Chr X, 107816867: 107816867
98COL4A5NM_000495.4(COL4A5): c.533delC (p.Pro178Leufs)deletionPathogenicrs104886058GRCh37Chr X, 107816871: 107816871
99COL4A5NM_000495.4(COL4A5): c.538G> A (p.Gly180Arg)single nucleotide variantPathogenicrs281874755GRCh37Chr X, 107816876: 107816876
100COL4A5NP_203699.1: p.?deletionPathogenic
101COL4A5NM_000495.4(COL4A5): c.546+1G> Asingle nucleotide variantPathogenicrs104886429GRCh37Chr X, 107816885: 107816885
102COL4A5NM_033380.2(COL4A5): c.546+3_546+4insT (p.?)insertionPathogenicrs104886430GRCh37Chr X, 107816887: 107816888
103COL4A5NM_000495.4(COL4A5): c.547-2A> Gsingle nucleotide variantPathogenicrs281874756GRCh37Chr X, 107819138: 107819138
104COL4A5NM_000495.4(COL4A5): c.547-1G> Asingle nucleotide variantPathogenicrs104886431GRCh37Chr X, 107819139: 107819139
105COL4A5NM_000495.4(COL4A5): c.547dupG (p.Leu184Profs)duplicationPathogenicrs104886432GRCh37Chr X, 107819140: 107819140
106COL4A5NM_000495.4(COL4A5): c.548G> T (p.Gly183Val)single nucleotide variantPathogenicrs104886059GRCh37Chr X, 107819141: 107819141
107COL4A5NM_000495.4(COL4A5): c.550dupC (p.Leu184Profs)duplicationPathogenicrs104886433GRCh37Chr X, 107819143: 107819143
108COL4A5NM_000495.4(COL4A5): c.574G> A (p.Gly192Arg)single nucleotide variantPathogenicrs104886060GRCh37Chr X, 107819167: 107819167
109COL4A5NM_000495.4(COL4A5): c.584G> A (p.Gly195Asp)single nucleotide variantPathogenicrs104886061GRCh37Chr X, 107819177: 107819177
110COL4A5NM_000495.4(COL4A5): c.593G> A (p.Gly198Glu)single nucleotide variantPathogenicrs104886057GRCh37Chr X, 107819186: 107819186
111COL4A5NM_000495.4(COL4A5): c.602G> T (p.Gly201Val)single nucleotide variantPathogenicrs104886062GRCh37Chr X, 107819195: 107819195
112COL4A5NM_000495.4(COL4A5): c.609+1G> Asingle nucleotide variantPathogenicrs104886434GRCh37Chr X, 107819203: 107819203
113COL4A5NP_203699.1: p.?single nucleotide variantPathogenic
114COL4A5NM_000495.4(COL4A5): c.610-2A> Gsingle nucleotide variantPathogenicrs281874758GRCh37Chr X, 107821180: 107821180
115COL4A5NM_000495.4(COL4A5): c.610_628del19 (p.Gly204Aspfs)deletionPathogenicrs104886435GRCh37Chr X, 107821182: 107821200
116COL4A5NM_000495.4(COL4A5): c.611G> A (p.Gly204Asp)single nucleotide variantPathogenicrs104886063GRCh37Chr X, 107821183: 107821183
117COL4A5NM_000495.4(COL4A5): c.611G> T (p.Gly204Val)single nucleotide variantPathogenicrs104886063GRCh37Chr X, 107821183: 107821183
118COL4A5NM_000495.4(COL4A5): c.611_612delGC (p.Gly204Alafs)deletionPathogenicrs281874759GRCh37Chr X, 107821183: 107821184
119COL4A5NM_000495.4(COL4A5): c.634delC (p.Pro212Glnfs)deletionPathogenicrs104886065GRCh37Chr X, 107821206: 107821206
120COL4A5NM_000495.4(COL4A5): c.638G> A (p.Gly213Glu)single nucleotide variantPathogenicrs104886066GRCh37Chr X, 107821210: 107821210
121COL4A5NM_000495.4(COL4A5): c.646-12_646-11delTTdeletionPathogenicrs104886436GRCh37Chr X, 107821296: 107821297
122COL4A5NM_000495.4(COL4A5): c.646-3C> Asingle nucleotide variantPathogenicrs104886437GRCh37Chr X, 107821305: 107821305
123COL4A5NM_000495.4(COL4A5): c.646G> A (p.Gly216Arg)single nucleotide variantPathogenicrs104886067GRCh37Chr X, 107821308: 107821308
124COL4A5NM_000495.4(COL4A5): c.647G> T (p.Gly216Val)single nucleotide variantPathogenicrs104886074GRCh37Chr X, 107821309: 107821309
125COL4A5NM_000495.4(COL4A5): c.647_648dupGG (p.Asn217Glyfs)duplicationPathogenicrs104886438GRCh37Chr X, 107821309: 107821310
126COL4A5NM_000495.4(COL4A5): c.648dupG (p.Asn217Glufs)duplicationPathogenicrs104886438GRCh37Chr X, 107821310: 107821310
127COL4A5NM_000495.4(COL4A5): c.655G> A (p.Gly219Ser)single nucleotide variantPathogenicrs104886075GRCh37Chr X, 107821317: 107821317
128COL4A5NM_000495.4(COL4A5): c.687+1G> Asingle nucleotide variantPathogenicrs104886440GRCh37Chr X, 107821350: 107821350
129COL4A5NM_000495.4(COL4A5): c.688-3C> Gsingle nucleotide variantPathogenicrs104886441GRCh37Chr X, 107821518: 107821518
130COL4A5NM_000495.4(COL4A5): c.688G> C (p.Gly230Arg)single nucleotide variantPathogenicrs104886076GRCh37Chr X, 107821521: 107821521
131COL4A5NM_000495.4(COL4A5): c.689delG (p.Gly230Valfs)deletionPathogenicrs104886077GRCh37Chr X, 107821522: 107821522
132COL4A5NM_000495.4(COL4A5): c.689G> A (p.Gly230Asp)single nucleotide variantPathogenicrs281874763GRCh37Chr X, 107821522: 107821522
133COL4A5NM_000495.4(COL4A5): c.716G> A (p.Gly239Glu)single nucleotide variantPathogenicrs104886068GRCh37Chr X, 107821549: 107821549
134COL4A5NM_000495.4(COL4A5): c.761_762delAG (p.Glu254Valfs)deletionPathogenicrs104886443GRCh37Chr X, 107821594: 107821595
135COL4A5NM_000495.4(COL4A5): c.780+2T> Gsingle nucleotide variantPathogenicrs104886444GRCh37Chr X, 107821615: 107821615
136COL4A5NM_033380.3(COL4A5): c.781-1_786delGGGACTT (p.?)deletionPathogenicrs104886445GRCh37Chr X, 107823762: 107823768
137COL4A5NP_203699.1: p.?deletionPathogenic
138COL4A5NM_000495.4(COL4A5): c.781-?_1423+?deldeletionPathogenic
139COL4A5NM_000495.4(COL4A5): c.790G> C (p.Gly264Arg)single nucleotide variantPathogenicrs104886069GRCh37Chr X, 107823772: 107823772
140COL4A5NM_000495.4(COL4A5): c.791G> A (p.Gly264Asp)single nucleotide variantPathogenicrs104886070GRCh37Chr X, 107823773: 107823773
141COL4A5NM_000495.4(COL4A5): c.796C> T (p.Arg266Ter)single nucleotide variantPathogenicrs104886071GRCh37Chr X, 107823778: 107823778
142COL4A5NM_000495.4(COL4A5): c.812delC (p.Pro271Leufs)deletionPathogenicrs104886072GRCh37Chr X, 107823794: 107823794
143COL4A5NM_000495.4(COL4A5): c.834+1G> Asingle nucleotide variantPathogenicrs104886446GRCh37Chr X, 107823817: 107823817
144COL4A5NM_000495.4(COL4A5): c.834+5G> Tsingle nucleotide variantPathogenicrs104886442GRCh37Chr X, 107823821: 107823821
145COL4A5NM_000495.4(COL4A5): c.859G> T (p.Glu287Ter)single nucleotide variantPathogenicrs104886447GRCh37Chr X, 107823936: 107823936
146COL4A5NM_000495.4(COL4A5): c.866G> T (p.Gly289Val)single nucleotide variantPathogenicrs104886450GRCh37Chr X, 107823943: 107823943
147COL4A5NM_000495.4(COL4A5): c.866delG (p.Gly289Valfs)deletionPathogenicrs281874766GRCh37Chr X, 107823943: 107823943
148COL4A5NM_000495.4(COL4A5): c.873delA (p.Gly292Glufs)deletionPathogenicrs281874767GRCh37Chr X, 107823950: 107823950
149COL4A5NM_000495.4(COL4A5): c.874G> C (p.Gly292Arg)single nucleotide variantPathogenicrs104886073GRCh37Chr X, 107823951: 107823951
150COL4A5NM_000495.4(COL4A5): c.875G> T (p.Gly292Val)single nucleotide variantPathogenicrs104886078GRCh37Chr X, 107823952: 107823952
151COL4A5NM_000495.4(COL4A5): c.875delG (p.Gly292Glufs)deletionPathogenicrs281874768GRCh37Chr X, 107823952: 107823952
152COL4A5NM_000495.4(COL4A5): c.884G> A (p.Gly295Asp)single nucleotide variantPathogenicrs104886079GRCh37Chr X, 107823961: 107823961
153COL4A5NM_000495.4(COL4A5): c.891+1G> Asingle nucleotide variantPathogenicrs104886451GRCh37Chr X, 107823969: 107823969
154COL4A5NM_000495.4(COL4A5): c.892-2A> Gsingle nucleotide variantPathogenicrs104886453GRCh37Chr X, 107824211: 107824211
155COL4A5NM_000495.4(COL4A5): c.892-1G> Csingle nucleotide variantPathogenicrs104886452GRCh37Chr X, 107824212: 107824212
156COL4A5NM_000495.4(COL4A5): c.892G> A (p.Gly298Ser)single nucleotide variantPathogenicrs104886080GRCh37Chr X, 107824213: 107824213
157COL4A5NM_000495.4(COL4A5): c.913G> T (p.Glu305Ter)single nucleotide variantPathogenicrs104886081GRCh37Chr X, 107824234: 107824234
158COL4A5NM_000495.4(COL4A5): c.920G> A (p.Gly307Asp)single nucleotide variantPathogenicrs104886082GRCh37Chr X, 107824241: 107824241
159COL4A5NM_000495.4(COL4A5): c.928G> A (p.Gly310Arg)single nucleotide variantPathogenicrs104886083GRCh37Chr X, 107824249: 107824249
160COL4A5NM_000495.4(COL4A5): c.937-1G> Asingle nucleotide variantPathogenicrs104886448GRCh37Chr X, 107826113: 107826113
161COL4A5NM_000495.4(COL4A5): c.937-?_990+?del (p.Gly313_Lys330del)deletionPathogenicGRCh37Chr X, 107826114: 107826167
162COL4A5NM_000495.4(COL4A5): c.937G> A (p.Gly313Ser)single nucleotide variantPathogenicrs104886084GRCh37Chr X, 107826114: 107826114
163COL4A5NM_000495.4(COL4A5): c.945dupT (p.Gly316Trpfs)duplicationPathogenicrs104886449GRCh37Chr X, 107826122: 107826122
164COL4A5NM_000495.4(COL4A5): c.955G> C (p.Gly319Arg)single nucleotide variantPathogenicrs104886085GRCh37Chr X, 107826132: 107826132
165COL4A5NM_000495.4(COL4A5): c.956G> A (p.Gly319Asp)single nucleotide variantPathogenicrs104886086GRCh37Chr X, 107826133: 107826133
166COL4A5NM_000495.4(COL4A5): c.960C> A (p.Tyr320Ter)single nucleotide variantPathogenicrs281874769GRCh37Chr X, 107826137: 107826137
167COL4A5NM_000495.4(COL4A5): c.973G> A (p.Gly325Arg)single nucleotide variantPathogenicrs104886088GRCh37Chr X, 107826150: 107826150
168COL4A5NM_000495.4(COL4A5): c.973G> T (p.Gly325Ter)single nucleotide variantPathogenicrs104886088GRCh37Chr X, 107826150: 107826150
169COL4A5NM_000495.4(COL4A5): c.992G> T (p.Gly331Val)single nucleotide variantPathogenicrs104886092GRCh37Chr X, 107827715: 107827715
170COL4A5NM_000495.4(COL4A5): c.1001G> T (p.Gly334Val)single nucleotide variantPathogenicrs104886093GRCh37Chr X, 107827724: 107827724
171COL4A5NM_000495.4(COL4A5): c.1032+3_1032+6delAAGTdeletionPathogenicrs104886314GRCh37Chr X, 107827758: 107827761
172COL4A5NM_000495.4(COL4A5): c.1032+5G> Tsingle nucleotide variantPathogenicrs104886315GRCh37Chr X, 107827760: 107827760
173COL4A5NM_000495.4(COL4A5): c.1033-?_1516+?deldeletionPathogenic
174COL4A5NM_000495.4(COL4A5): c.1060dupA (p.Thr354Asnfs)duplicationPathogenicrs281874655GRCh37Chr X, 107829872: 107829872
175COL4A5NM_000495.4(COL4A5): c.1062dupT (p.Ile355Tyrfs)duplicationPathogenicrs104886316GRCh37Chr X, 107829874: 107829874
176COL4A5NM_000495.4(COL4A5): c.1074delA (p.Gly359Glufs)deletionPathogenicrs104886095GRCh37Chr X, 107829886: 107829886
177COL4A5NM_000495.4(COL4A5): c.1084G> A (p.Gly362Arg)single nucleotide variantPathogenicrs281874656GRCh37Chr X, 107829896: 107829896
178COL4A5NM_000495.4(COL4A5): c.1094G> A (p.Gly365Glu)single nucleotide variantPathogenicrs104886096GRCh37Chr X, 107829906: 107829906
179COL4A5NM_000495.4(COL4A5): c.1112G> A (p.Gly371Glu)single nucleotide variantPathogenicrs104886097GRCh37Chr X, 107829924: 107829924
180COL4A5NM_000495.4(COL4A5): c.1117C> T (p.Arg373Ter)single nucleotide variantPathogenicrs104886094GRCh37Chr X, 107829929: 107829929
181COL4A5NM_000495.4(COL4A5): c.1121G> C (p.Gly374Ala)single nucleotide variantPathogenicrs104886108GRCh37Chr X, 107829933: 107829933
182COL4A5NM_000495.4(COL4A5): c.1139G> A (p.Gly380Asp)single nucleotide variantPathogenicrs104886098GRCh37Chr X, 107829951: 107829951
183COL4A5NM_000495.4(COL4A5): c.1148G> A (p.Gly383Asp)single nucleotide variantPathogenicrs104886105GRCh37Chr X, 107829960: 107829960
184COL4A5NM_000495.4(COL4A5): c.1165+1G> Asingle nucleotide variantPathogenicrs104886317GRCh37Chr X, 107829978: 107829978
185COL4A5NM_000495.4(COL4A5): c.1165+2T> Gsingle nucleotide variantPathogenicrs104886324GRCh37Chr X, 107829979: 107829979
186COL4A5NM_000495.4(COL4A5): c.1166-?_1423+?deldeletionPathogenic
187COL4A5NM_000495.4(COL4A5): c.1166-?_1516+?deldeletionPathogenic
188COL4A5NM_000495.4(COL4A5): c.1166-?_2041+?deldeletionPathogenic
189COL4A5NM_000495.4(COL4A5): c.1181delG (p.Gly394Valfs)deletionPathogenicrs281874658GRCh37Chr X, 107834303: 107834303
190COL4A5NM_000495.4(COL4A5): c.1199G> A (p.Gly400Glu)single nucleotide variantPathogenicrs104886107GRCh37Chr X, 107834321: 107834321
191COL4A5NM_000495.4(COL4A5): c.1208G> T (p.Gly403Val)single nucleotide variantPathogenicrs104886099GRCh37Chr X, 107834330: 107834330
192COL4A5NM_000495.4(COL4A5): c.1213dupA (p.Arg405Lysfs)duplicationPathogenicrs281874659GRCh37Chr X, 107834335: 107834335
193COL4A5NM_000495.4(COL4A5): c.1214_1215insA (p.Gln407Serfs)insertionPathogenicrs104886325GRCh37Chr X, 107834336: 107834337
194COL4A5NP_203699.1: p.Gly406fsinsertionPathogenic
195COL4A5NM_000495.4(COL4A5): c.1217G> T (p.Gly406Val)single nucleotide variantPathogenicrs104886100GRCh37Chr X, 107834339: 107834339
196COL4A5NM_000495.4(COL4A5): c.1219C> T (p.Gln407Ter)single nucleotide variantPathogenicrs281874661GRCh37Chr X, 107834341: 107834341
197COL4A5NM_000495.4(COL4A5): c.1222A> T (p.Lys408Ter)single nucleotide variantPathogenicrs281874662GRCh37Chr X, 107834344: 107834344
198COL4A5NM_000495.4(COL4A5): c.1226G> A (p.Gly409Asp)single nucleotide variantPathogenicrs104886101GRCh37Chr X, 107834348: 107834348
199COL4A5NM_000495.4(COL4A5): c.1235G> T (p.Gly412Val)single nucleotide variantPathogenicrs104886102GRCh37Chr X, 107834357: 107834357
200COL4A5NM_000495.4(COL4A5): c.1243G> A (p.Gly415Arg)single nucleotide variantPathogenicrs104886103GRCh37Chr X, 107834365: 107834365
201COL4A5NM_000495.4(COL4A5): c.1254delT (p.Pro419Leufs)deletionPathogenicrs104886104GRCh37Chr X, 107834376: 107834376
202COL4A5NM_000495.4(COL4A5): c.1259G> A (p.Gly420Glu)single nucleotide variantPathogenicrs281874663GRCh37Chr X, 107834381: 107834381
203COL4A5NM_000495.4(COL4A5): c.1265delC (p.Pro422Leufs)deletionPathogenicrs104886109GRCh37Chr X, 107834387: 107834387
204COL4A5NM_000495.4(COL4A5): c.1268G> A (p.Gly423Glu)single nucleotide variantPathogenicrs104886110GRCh37Chr X, 107834390: 107834390
205COL4A5NM_000495.4(COL4A5): c.1276G> A (p.Gly426Arg)single nucleotide variantPathogenicrs104886111GRCh37Chr X, 107834398: 107834398
206COL4A5NM_000495.4(COL4A5): c.1280dupA (p.Pro428Alafs)duplicationPathogenicrs104886327GRCh37Chr X, 107834402: 107834402
207COL4A5NM_000495.4(COL4A5): c.1286G> A (p.Gly429Glu)single nucleotide variantPathogenicrs104886112GRCh37Chr X, 107834408: 107834408
208COL4A5NP_203699.1: p.Ala430fsduplicationPathogenic
209COL4A5NM_000495.4(COL4A5): c.1294G> A (p.Gly432Arg)single nucleotide variantPathogenicrs281874664GRCh37Chr X, 107834416: 107834416
210COL4A5NM_000495.4(COL4A5): c.1340-2A> Gsingle nucleotide variantPathogenicrs104886319GRCh37Chr X, 107834789: 107834789
211COL4A5NM_000495.4(COL4A5): c.1350_1351delAT (p.Ile450Metfs)deletionPathogenicrs104886320GRCh37Chr X, 107834801: 107834802
212COL4A5p.Pro456_Pro458deldeletionPathogenic
213COL4A5NM_000495.4(COL4A5): c.1366_1374delCCAGGCCCC (p.Pro458_Gly460del)deletionPathogenicrs104886321GRCh37Chr X, 107834817: 107834825
214COL4A5NM_000495.4(COL4A5): c.1371_1379delCCCCCCAGG (p.Pro458_Gly460del)deletionPathogenicrs281874665GRCh37Chr X, 107834822: 107834830
215COL4A5NM_000495.4(COL4A5): c.1376delC (p.Pro459Glnfs)deletionPathogenicrs104886113GRCh37Chr X, 107834827: 107834827
216COL4A5NM_000495.4(COL4A5): c.1376dupC (p.Gly460Argfs)duplicationPathogenicrs281874666GRCh37Chr X, 107834827: 107834827
217COL4A5NM_000495.4(COL4A5): c.1397G> A (p.Gly466Glu)single nucleotide variantPathogenicrs104886114GRCh37Chr X, 107834848: 107834848
218COL4A5NM_000495.4(COL4A5): c.1406G> A (p.Gly469Glu)single nucleotide variantPathogenicrs104886115GRCh37Chr X, 107834857: 107834857
219COL4A5NM_000495.4(COL4A5): c.1414G> A (p.Gly472Arg)single nucleotide variantPathogenicrs104886116GRCh37Chr X, 107834865: 107834865
220COL4A5NM_000495.4(COL4A5): c.1423G> A (p.Gly475Ser)single nucleotide variantPathogenicrs281874667GRCh37Chr X, 107834874: 107834874
221COL4A5NM_000495.4(COL4A5): c.1423+1G> Asingle nucleotide variantPathogenicrs104886312GRCh37Chr X, 107834875: 107834875
222COL4A5NP_203699.1: p.?insertionPathogenic
223COL4A5NM_000495.4(COL4A5): c.1424-20T> Asingle nucleotide variantPathogenicrs281874668GRCh37Chr X, 107838719: 107838719
224COL4A5NM_000495.4(COL4A5): c.1424-1G> Asingle nucleotide variantPathogenicrs104886329GRCh37Chr X, 107838738: 107838738
225COL4A5NP_203699.1: p.?deletionPathogenic
226COL4A5NM_000495.4(COL4A5): c.1472G> A (p.Gly491Glu)single nucleotide variantPathogenicrs104886117GRCh37Chr X, 107838787: 107838787
227COL4A5NM_000495.4(COL4A5): c.1481G> A (p.Gly494Asp)single nucleotide variantPathogenicrs104886118GRCh37Chr X, 107838796: 107838796
228COL4A5p.Gln495_Gly506deldeletionPathogenic
229COL4A5NM_000495.4(COL4A5): c.1489G> T (p.Gly497Cys)single nucleotide variantPathogenicrs104886120GRCh37Chr X, 107838804: 107838804
230COL4A5NM_000495.4(COL4A5): c.1498G> C (p.Gly500Arg)single nucleotide variantPathogenicrs281874670GRCh37Chr X, 107838813: 107838813
231COL4A5NM_000495.4(COL4A5): c.1516+1G> Asingle nucleotide variantPathogenicrs104886331GRCh37Chr X, 107838832: 107838832
232COL4A5NM_000495.4(COL4A5): c.1517-1G> Tsingle nucleotide variantPathogenicrs104886332GRCh37Chr X, 107840227: 107840227
233COL4A5NM_000495.4(COL4A5): c.1562G> A (p.Gly521Asp)single nucleotide variantPathogenicrs104886122GRCh37Chr X, 107840273: 107840273
234COL4A5NM_000495.4(COL4A5): c.1566delA (p.Thr523Leufs)deletionPathogenicrs104886123GRCh37Chr X, 107840277: 107840277
235COL4A5NM_000495.4(COL4A5): c.1571G> A (p.Gly524Asp)single nucleotide variantPathogenicrs104886119GRCh37Chr X, 107840282: 107840282
236COL4A5NC_000023.10: g.107840292_107840615del324deletionPathogenicGRCh37Chr X, 107840292: 107840615
237COL4A5NM_000495.4(COL4A5): c.1587+1delGdeletionPathogenicrs104886124GRCh37Chr X, 107840299: 107840299
238COL4A5NM_000495.4(COL4A5): c.1587+1G> Asingle nucleotide variantPathogenicrs104886313GRCh37Chr X, 107840299: 107840299
239COL4A5NM_000495.4(COL4A5): c.1598G> A (p.Gly533Glu)single nucleotide variantPathogenicrs281874672GRCh37Chr X, 107840617: 107840617
240COL4A5NM_000495.4(COL4A5): c.1607G> A (p.Gly536Asp)single nucleotide variantPathogenicrs104886125GRCh37Chr X, 107840626: 107840626
241COL4A5NM_000495.4(COL4A5): c.1633G> C (p.Gly545Arg)single nucleotide variantPathogenicrs104886126GRCh37Chr X, 107840652: 107840652
242COL4A5NM_000495.4(COL4A5): c.1634G> T (p.Gly545Val)single nucleotide variantPathogenicrs104886127GRCh37Chr X, 107840653: 107840653
243COL4A5NM_000495.4(COL4A5): c.1643G> A (p.Gly548Asp)single nucleotide variantPathogenicrs281874673GRCh37Chr X, 107840662: 107840662
244COL4A5NM_000495.4(COL4A5): c.1653delC (p.Thr552Leufs)deletionPathogenicrs104886128GRCh37Chr X, 107840672: 107840672
245COL4A5NM_000495.4(COL4A5): c.1672G> C (p.Gly558Arg)single nucleotide variantPathogenicrs104886129GRCh37Chr X, 107840691: 107840691
246COL4A5NM_000495.4(COL4A5): c.1681G> A (p.Gly561Arg)single nucleotide variantPathogenicrs104886136GRCh37Chr X, 107840700: 107840700
247COL4A5NM_000495.4(COL4A5): c.1690G> T (p.Gly564Cys)single nucleotide variantPathogenicrs281874674GRCh37Chr X, 107840709: 107840709
248COL4A5NM_000495.4(COL4A5): c.1700G> C (p.Gly567Ala)single nucleotide variantPathogenicrs104886137GRCh37Chr X, 107840719: 107840719
249COL4A5NM_000495.4(COL4A5): c.1718G> A (p.Gly573Asp)single nucleotide variantPathogenicrs104886138GRCh37Chr X, 107840737: 107840737
250COL4A5NM_000495.4(COL4A5): c.1726G> A (p.Gly576Ser)single nucleotide variantPathogenicrs281874675GRCh37Chr X, 107840745: 107840745
251COL4A5NM_000495.4(COL4A5): c.1735G> A (p.Gly579Arg)single nucleotide variantPathogenicrs104886139GRCh37Chr X, 107840754: 107840754
252COL4A5NM_000495.4(COL4A5): c.1736G> A (p.Gly579Glu)single nucleotide variantPathogenicrs104886130GRCh37Chr X, 107840755: 107840755
253COL4A5NM_000495.4(COL4A5): c.1738C> T (p.Gln580Ter)single nucleotide variantPathogenicrs281874676GRCh37Chr X, 107840757: 107840757
254COL4A5NM_000495.4(COL4A5): c.1739_1948+98deldeletionPathogenicrs104886336GRCh37Chr X, 107840758: 107842198
255COL4A5NM_000495.4(COL4A5): c.1757_1770delTTCCTGGCCCGAAA (p.Leu586Argfs)deletionPathogenicrs281874678GRCh37Chr X, 107840776: 107840789
256COL4A5NM_000495.4(COL4A5): c.1779+1G> Tsingle nucleotide variantPathogenicrs104886337GRCh37Chr X, 107840799: 107840799
257COL4A5NM_000495.4(COL4A5): c.1779+3G> Csingle nucleotide variantPathogenicrs281874679GRCh37Chr X, 107840801: 107840801
258COL4A5NM_000495.4(COL4A5): c.1780-1G> Asingle nucleotide variantPathogenicrs104886338GRCh37Chr X, 107841931: 107841931
259COL4A5NM_000495.4(COL4A5): c.1780G> A (p.Gly594Ser)single nucleotide variantPathogenicrs104886131GRCh37Chr X, 107841932: 107841932
260COL4A5NM_000495.4(COL4A5): c.1783G> A (p.Gly595Arg)single nucleotide variantPathogenicrs104886132GRCh37Chr X, 107841935: 107841935
261COL4A5NM_000495.4(COL4A5): c.1808G> T (p.Gly603Val)single nucleotide variantPathogenicrs104886133GRCh37Chr X, 107841960: 107841960
262COL4A5NM_000495.4(COL4A5): c.1825G> C (p.Gly609Arg)single nucleotide variantPathogenicrs104886135GRCh37Chr X, 107841977: 107841977
263COL4A5NM_000495.4(COL4A5): c.1826G> T (p.Gly609Val)single nucleotide variantPathogenicrs104886140GRCh37Chr X, 107841978: 107841978
264COL4A5NM_000495.4(COL4A5): c.1856C> T (p.Pro619Leu)single nucleotide variantPathogenicrs281874681GRCh37Chr X, 107842008: 107842008
265COL4A5NM_000495.4(COL4A5): c.1861G> T (p.Gly621Cys)single nucleotide variantPathogenicrs104886141GRCh37Chr X, 107842013: 107842013
266COL4A5NM_000495.4(COL4A5): c.1871G> A (p.Gly624Asp)single nucleotide variantPathogenicrs104886142GRCh37Chr X, 107842023: 107842023
267COL4A5NM_000495.4(COL4A5): c.1877G> C (p.Gly626Ala)single nucleotide variantPathogenicrs104886143GRCh37Chr X, 107842029: 107842029
268COL4A5NM_000495.4(COL4A5): c.1886G> A (p.Gly629Asp)single nucleotide variantPathogenicrs104886144GRCh37Chr X, 107842038: 107842038
269COL4A5NM_000495.4(COL4A5): c.1895G> A (p.Gly632Asp)single nucleotide variantPathogenicrs104886145GRCh37Chr X, 107842047: 107842047
270COL4A5NM_000495.4(COL4A5): c.1897G> A (p.Glu633Lys)single nucleotide variantPathogenicrs104886146GRCh37Chr X, 107842049: 107842049
271COL4A5NM_000495.4(COL4A5): c.1904G> A (p.Gly635Asp)single nucleotide variantPathogenicrs281874683GRCh37Chr X, 107842056: 107842056
272COL4A5NM_000495.4(COL4A5): c.1912G> A (p.Gly638Ser)single nucleotide variantPathogenicrs104886147GRCh37Chr X, 107842064: 107842064
273COL4A5NM_000495.4(COL4A5): c.1913G> C (p.Gly638Ala)single nucleotide variantPathogenicrs104886134GRCh37Chr X, 107842065: 107842065
274COL4A5NM_000495.4(COL4A5): c.1913G> T (p.Gly638Val)single nucleotide variantPathogenicrs104886134GRCh37Chr X, 107842065: 107842065
275COL4A5NM_000495.4(COL4A5): c.1948+1G> Asingle nucleotide variantPathogenicrs104886339GRCh37Chr X, 107842101: 107842101
276COL4A5NM_000495.4(COL4A5): c.1949-?_3373+?deldeletionPathogenicGRCh37Chr X, 107842101: 107908736
277COL4A5NM_000495.4(COL4A5): c.1957G> A (p.Gly653Arg)single nucleotide variantPathogenicrs104886150GRCh37Chr X, 107844631: 107844631
278COL4A5NM_000495.4(COL4A5): c.1960delG (p.Asp654Ilefs)deletionPathogenicrs104886152GRCh37Chr X, 107844634: 107844634
279COL4A5NM_000495.4(COL4A5): c.1997G> A (p.Gly666Asp)single nucleotide variantPathogenicrs104886153GRCh37Chr X, 107844671: 107844671
280COL4A5NM_000495.4(COL4A5): c.2005G> C (p.Gly669Arg)single nucleotide variantPathogenicrs281874684GRCh37Chr X, 107844679: 107844679
281COL4A5NM_000495.4(COL4A5): c.2006G> C (p.Gly669Ala)single nucleotide variantPathogenicrs104886151GRCh37Chr X, 107844680: 107844680
282COL4A5NM_000495.4(COL4A5): c.2018delG (p.Arg673Lysfs)deletionPathogenicrs104886156GRCh37Chr X, 107844692: 107844692
283COL4A5NM_000495.4(COL4A5): c.2023G> A (p.Gly675Ser)single nucleotide variantPathogenicrs104886157GRCh37Chr X, 107844697: 107844697
284COL4A5NM_000495.4(COL4A5): c.2041+1G> Tsingle nucleotide variantPathogenicrs104886340GRCh37Chr X, 107844716: 107844716
285COL4A5NM_000495.4(COL4A5): c.2042-18A> Gsingle nucleotide variantPathogenicrs104886341GRCh37Chr X, 107845097: 107845097
286COL4A5NM_000495.4(COL4A5): c.2042G> A (p.Gly681Asp)single nucleotide variantPathogenicrs104886158GRCh37Chr X, 107845115: 107845115
287COL4A5NM_000495.4(COL4A5): c.2050G> T (p.Gly684Ter)single nucleotide variantPathogenicrs104886159GRCh37Chr X, 107845123: 107845123
288COL4A5NM_000495.4(COL4A5): c.2051G> T (p.Gly684Val)single nucleotide variantPathogenicrs104886160GRCh37Chr X, 107845124: 107845124
289COL4A5NM_000495.4(COL4A5): c.2057delC (p.Pro686Glnfs)deletionPathogenicrs104886167GRCh37Chr X, 107845130: 107845130
290COL4A5NM_000495.4(COL4A5): c.2060G> A (p.Gly687Glu)single nucleotide variantPathogenicrs104886168GRCh37Chr X, 107845133: 107845133
291COL4A5NM_000495.4(COL4A5): c.2062_2114dup53 (p.Ile706Asnfs)duplicationPathogenicrs104886342GRCh37Chr X, 107845135: 107845187
292COL4A5NM_000495.4(COL4A5): c.2098G> T (p.Glu700Ter)single nucleotide variantPathogenicrs104886169GRCh37Chr X, 107845171: 107845171
293COL4A5NM_000495.4(COL4A5): c.2146G> C (p.Gly716Arg)single nucleotide variantPathogenicrs104886161GRCh37Chr X, 107845219: 107845219
294COL4A5NM_000495.4(COL4A5): c.2146+3A> Csingle nucleotide variantPathogenicrs104886343GRCh37Chr X, 107845222: 107845222
295COL4A5NM_000495.4(COL4A5): c.2147-3C> Gsingle nucleotide variantPathogenicrs104886345GRCh37Chr X, 107846191: 107846191
296COL4A5NM_000495.4(COL4A5): c.2147-2A> Gsingle nucleotide variantPathogenicrs104886344GRCh37Chr X, 107846192: 107846192
297COL4A5NM_000495.4(COL4A5): c.2147delG (p.Gly716Alafs)deletionPathogenicrs104886162GRCh37Chr X, 107846194: 107846194
298COL4A5NM_000495.4(COL4A5): c.2147-?_2767+?dup621duplicationPathogenicGRCh37Chr X, 107845220: 107865905
299COL4A5NM_000495.4(COL4A5): c.2155G> C (p.Gly719Arg)single nucleotide variantPathogenicrs281874686GRCh37Chr X, 107846202: 107846202
300COL4A5NM_000495.4(COL4A5): c.2165G> A (p.Gly722Glu)single nucleotide variantPathogenicrs104886163GRCh37Chr X, 107846212: 107846212
301COL4A5NM_000495.4(COL4A5): c.2206_2226del21 (p.Glu736_Pro742del)deletionPathogenicrs104886346GRCh37Chr X, 107846253: 107846273
302COL4A5NM_000495.4(COL4A5): c.2215C> T (p.Pro739Ser)single nucleotide variantPathogenicrs104886164GRCh37Chr X, 107846262: 107846262
303COL4A5NM_000495.4(COL4A5): c.2219G> A (p.Gly740Glu)single nucleotide variantPathogenicrs104886165GRCh37Chr X, 107846266: 107846266
304COL4A5NM_000495.4(COL4A5): c.2228G> A (p.Gly743Asp)single nucleotide variantPathogenicrs104886166GRCh37Chr X, 107846275: 107846275
305COL4A5NM_000495.4(COL4A5): c.2244+1G> Tsingle nucleotide variantPathogenicrs281874688GRCh37Chr X, 107846292: 107846292
306COL4A5NM_000495.4(COL4A5): c.2244+2T> Gsingle nucleotide variantPathogenicrs104886347GRCh37Chr X, 107846293: 107846293
307COL4A5NM_000495.4(COL4A5): c.2245-1G> Asingle nucleotide variantPathogenicrs104886348GRCh37Chr X, 107849971: 107849971
308COL4A5NM_000495.4(COL4A5): c.2287G> A (p.Gly763Arg)single nucleotide variantPathogenicrs104886171GRCh37Chr X, 107850014: 107850014
309COL4A5NM_000495.4(COL4A5): c.2288G> A (p.Gly763Glu)single nucleotide variantPathogenicrs281874689GRCh37Chr X, 107850015: 107850015
310COL4A5NM_000495.4(COL4A5): c.2297G> A (p.Gly766Asp)single nucleotide variantPathogenicrs104886172GRCh37Chr X, 107850024: 107850024
311COL4A5NM_000495.4(COL4A5): c.2305G> A (p.Gly769Arg)single nucleotide variantPathogenicrs281874690GRCh37Chr X, 107850032: 107850032
312COL4A5NM_000495.4(COL4A5): c.2315G> A (p.Gly772Asp)single nucleotide variantPathogenicrs104886173GRCh37Chr X, 107850042: 107850042
313COL4A5NM_000495.4(COL4A5): c.2315G> C (p.Gly772Ala)single nucleotide variantPathogenicrs104886173GRCh37Chr X, 107850042: 107850042
314COL4A5NM_000495.4(COL4A5): c.2322dupA (p.Gly775Argfs)duplicationPathogenicrs104886351GRCh37Chr X, 107850049: 107850049
315COL4A5NM_000495.4(COL4A5): c.2332G> A (p.Gly778Ser)single nucleotide variantPathogenicrs104886174GRCh37Chr X, 107850059: 107850059
316COL4A5NM_000495.4(COL4A5): c.2348delC (p.Pro783Argfs)deletionPathogenicrs104886175GRCh37Chr X, 107850075: 107850075
317COL4A5NM_000495.4(COL4A5): c.2360G> T (p.Gly787Val)single nucleotide variantPathogenicrs104886176GRCh37Chr X, 107850087: 107850087
318COL4A5NM_000495.4(COL4A5): c.2386G> A (p.Gly796Arg)single nucleotide variantPathogenicrs104886177GRCh37Chr X, 107850113: 107850113
319COL4A5NM_000495.4(COL4A5): c.2394A> G (p.Lys798=)single nucleotide variantPathogenicrs281874691GRCh37Chr X, 107850121: 107850121
320COL4A5NM_000495.4(COL4A5): c.2395+2delTdeletionPathogenicrs104886178GRCh37Chr X, 107850124: 107850124
321COL4A5NP_203699.1: p.?single nucleotide variantPathogenic
322COL4A5p.Gly802_Pro807deldeletionPathogenic
323COL4A5NM_000495.4(COL4A5): c.2404G> A (p.Gly802Arg)single nucleotide variantPathogenicrs104886179GRCh37Chr X, 107858149: 107858149
324COL4A5NM_000495.4(COL4A5): c.2423G> A (p.Gly808Glu)single nucleotide variantPathogenicrs104886180GRCh37Chr X, 107858168: 107858168
325COL4A5NM_000495.4(COL4A5): c.2431G> A (p.Gly811Arg)single nucleotide variantPathogenicrs104886182GRCh37Chr X, 107858176: 107858176
326COL4A5NM_000495.4(COL4A5): c.2432G> T (p.Gly811Val)single nucleotide variantPathogenicrs104886183GRCh37Chr X, 107858177: 107858177
327COL4A5NP_203699.1: p.Ile818fsindelPathogenic
328COL4A5NM_000495.4(COL4A5): c.2464_2472delGGACCACCA (p.Pro826_Gly828del)deletionPathogenicrs104886356GRCh37Chr X, 107858209: 107858217
329COL4A5NM_000495.4(COL4A5): c.2464G> C (p.Gly822Arg)single nucleotide variantPathogenicrs104886184GRCh37Chr X, 107858209: 107858209
330COL4A5NM_000495.4(COL4A5): c.2473G> T (p.Gly825Ter)single nucleotide variantPathogenicrs281874692GRCh37Chr X, 107858218: 107858218
331COL4A5NM_000495.4(COL4A5): c.2475_2483delACCACCAGG (p.Pro826_Gly828del)deletionPathogenicrs281874693GRCh37Chr X, 107858220: 107858228
332COL4A5NM_000495.4(COL4A5): c.2476delC (p.Pro826Hisfs)deletionPathogenicrs281874694GRCh37Chr X, 107858221: 107858221
333COL4A5NM_000495.4(COL4A5): c.2500G> C (p.Gly834Arg)single nucleotide variantPathogenicrs281874696GRCh37Chr X, 107858245: 107858245
334COL4A5NM_000495.4(COL4A5): c.2509G> Asingle nucleotide variantPathogenicrs104886185GRCh37Chr X, 107858254: 107858254
335COL4A5NM_000495.4(COL4A5): c.2510-33A> Gsingle nucleotide variantPathogenicrs104886358GRCh37Chr X, 107863456: 107863456
336COL4A5NM_000495.4(COL4A5): c.2510delG (p.Gly837Valfs)deletionPathogenicrs104886181GRCh37Chr X, 107863489: 107863489
337COL4A5COL4A5: c.2510-?_2677+?del (p.Gly837_Gly893delinsGly)deletionPathogenicGRCh37Chr X, 107863489: 107863656
338COL4A5NM_000495.4(COL4A5): c.2550_2573del24 (p.Leu853_Gly860del)deletionPathogenicrs104886359GRCh37Chr X, 107863529: 107863552
339COL4A5NM_000495.4(COL4A5): c.2554G> A (p.Gly852Arg)single nucleotide variantPathogenicrs104886186GRCh37Chr X, 107863533: 107863533
340COL4A5NM_000495.4(COL4A5): c.2555G> A (p.Gly852Glu)single nucleotide variantPathogenicrs104886187GRCh37Chr X, 107863534: 107863534
341COL4A5NM_000495.4(COL4A5): c.2578G> C (p.Gly860Arg)single nucleotide variantPathogenicrs281874697GRCh37Chr X, 107863557: 107863557
342COL4A5p.Ser864_Gly875deldeletionPathogenic
343COL4A5NM_000495.4(COL4A5): c.2595_2612del18 (p.Ile867_Gly872del)deletionPathogenicrs104886355GRCh37Chr X, 107863574: 107863591
344COL4A5NM_000495.4(COL4A5): c.2597G> A (p.Gly866Glu)single nucleotide variantPathogenicrs104886188GRCh37Chr X, 107863576: 107863576
345COL4A5NM_000495.4(COL4A5): c.2643delG (p.Leu882Phefs)deletionPathogenicrs104886200GRCh37Chr X, 107863622: 107863622
346COL4A5NM_000495.4(COL4A5): c.2605G> A (p.Gly869Arg)single nucleotide variantPathogenicrs104886189GRCh37Chr X, 107863584: 107863584
347COL4A5NM_000495.4(COL4A5): c.2614G> C (p.Gly872Arg)single nucleotide variantPathogenicrs104886190GRCh37Chr X, 107863593: 107863593
348COL4A5NM_000495.4(COL4A5): c.2624G> A (p.Gly875Glu)single nucleotide variantPathogenicrs104886191GRCh37Chr X, 107863603: 107863603
349COL4A5NM_000495.4(COL4A5): c.2625delA (p.Pro876Leufs)deletionPathogenicrs104886198GRCh37Chr X, 107863604: 107863604
350COL4A5NM_000495.4(COL4A5): c.2633G> T (p.Gly878Val)single nucleotide variantPathogenicrs104886199GRCh37Chr X, 107863612: 107863612
351COL4A5NM_000495.4(COL4A5): c.2659G> C (p.Gly887Arg)single nucleotide variantPathogenicrs281874699GRCh37Chr X, 107863638: 107863638
352COL4A5NM_000495.4(COL4A5): c.2660G> T (p.Gly887Val)single nucleotide variantPathogenicrs104886201GRCh37Chr X, 107863639: 107863639
353COL4A5NM_000495.4(COL4A5): c.2678-10T> Gsingle nucleotide variantPathogenicrs104886360GRCh37Chr X, 107865023: 107865023
354COL4A5NM_000495.4(COL4A5): c.2678-?_3246+?deldeletionPathogenic
355COL4A5NM_000495.4(COL4A5): c.2686delG (p.Gly896Valfs)deletionPathogenicrs281874700GRCh37Chr X, 107865041: 107865041
356COL4A5NM_000495.4(COL4A5): c.2692A> G (p.Met898Val)single nucleotide variantPathogenicrs104886192GRCh37Chr X, 107865047: 107865047
357COL4A5NM_000495.4(COL4A5): c.2705G> A (p.Gly902Glu)single nucleotide variantPathogenicrs104886361GRCh37Chr X, 107865060: 107865060
358COL4A5NM_000495.4(COL4A5): c.2708dupC (p.Pro904Serfs)duplicationPathogenicrs104886362GRCh37Chr X, 107865063: 107865063
359COL4A5NM_000495.4(COL4A5): c.2722G> A (p.Gly908Arg)single nucleotide variantPathogenicrs281874703GRCh37Chr X, 107865077: 107865077
360COL4A5NM_000495.4(COL4A5): c.2731G> A (p.Gly911Arg)single nucleotide variantPathogenicrs281874704GRCh37Chr X, 107865086: 107865086
361COL4A5NM_000495.4(COL4A5): c.2732G> A (p.Gly911Glu)single nucleotide variantPathogenicrs104886363GRCh37Chr X, 107865087: 107865087
362COL4A5NP_203699.1: p.Ser916fsindelPathogenic
363COL4A5NM_000495.4(COL4A5): c.2746A> G (p.Ser916Gly)single nucleotide variantPathogenicrs104886193GRCh37Chr X, 107865101: 107865101
364COL4A5NM_000495.4(COL4A5): c.2767+2delTdeletionPathogenicrs104886366GRCh37Chr X, 107865124: 107865124
365COL4A5NM_000495.4(COL4A5): c.2782C> T (p.Gln928Ter)single nucleotide variantPathogenicrs281874705GRCh37Chr X, 107865920: 107865920
366COL4A5NM_000495.4(COL4A5): c.2788C> T (p.Gln930Ter)single nucleotide variantPathogenicrs104886194GRCh37Chr X, 107865926: 107865926
367COL4A5NM_000495.4(COL4A5): c.2802dupT (p.Gly935Trpfs)duplicationPathogenicrs104886368GRCh37Chr X, 107865940: 107865940
368COL4A5NM_000495.4(COL4A5): c.2804G> A (p.Gly935Asp)single nucleotide variantPathogenicrs104886195GRCh37Chr X, 107865942: 107865942
369COL4A5NM_000495.4(COL4A5): c.2821G> T (p.Gly941Cys)single nucleotide variantPathogenicrs104886196GRCh37Chr X, 107865959: 107865959
370COL4A5NM_000495.4(COL4A5): c.2823_2825delTAG (p.Ser942del)deletionPathogenicrs104886369GRCh37Chr X, 107865961: 107865963
371COL4A5NM_000495.4(COL4A5): c.2840G> A (p.Gly947Asp)single nucleotide variantPathogenicrs104886370GRCh37Chr X, 107865978: 107865978
372COL4A5NM_000495.4(COL4A5): c.2846delC (p.Pro949Glnfs)deletionPathogenicrs104886197GRCh37Chr X, 107865984: 107865984
373COL4A5NM_000495.4(COL4A5): c.2858G> T (p.Gly953Val)single nucleotide variantPathogenicrs78972735GRCh37Chr X, 107865996: 107865996
374COL4A5NM_000495.4(COL4A5): c.2917+1G> Csingle nucleotide variantPathogenicrs104886371GRCh37Chr X, 107866056: 107866056
375COL4A5NM_000495.4(COL4A5): c.2917+1G> Tsingle nucleotide variantPathogenicrs104886371GRCh37Chr X, 107866056: 107866056
376COL4A5NM_000495.4(COL4A5): c.2918-1G> Tsingle nucleotide variantPathogenicrs104886372GRCh37Chr X, 107867465: 107867465
377COL4A5NM_000495.4(COL4A5): c.2940delA (p.Gly982Valfs)deletionPathogenicrs281874707GRCh37Chr X, 107867488: 107867488
378COL4A5NP_203699.1: p.Val977fsdeletionPathogenic
379COL4A5NM_000495.4(COL4A5): c.2943delA (p.Gly982Valfs)deletionPathogenicrs104886204GRCh37Chr X, 107867491: 107867491
380COL4A5NM_000495.4(COL4A5): c.2959_2976del18 (p.Asp989_Gly994del)deletionPathogenicrs104886374GRCh37Chr X, 107867507: 107867524
381COL4A5NM_000495.4(COL4A5): c.2965delG (p.Asp989Thrfs)deletionPathogenicrs104886206GRCh37Chr X, 107867513: 107867513
382COL4A5NM_000495.4(COL4A5): c.3016+1G> Tsingle nucleotide variantPathogenicrs104886377GRCh37Chr X, 107867565: 107867565
383COL4A5NM_000495.4(COL4A5): c.3017-1G> Asingle nucleotide variantPathogenicrs104886378GRCh37Chr X, 107868934: 107868934
384COL4A5NM_000495.4(COL4A5): c.3017G> T (p.Gly1006Val)single nucleotide variantPathogenicrs104886202GRCh37Chr X, 107868935: 107868935
385COL4A5NM_000495.4(COL4A5): c.3044G> T (p.Gly1015Val)single nucleotide variantPathogenicrs104886211GRCh37Chr X, 107868962: 107868962
386COL4A5NM_000495.4(COL4A5): c.3046C> T (p.Gln1016Ter)single nucleotide variantPathogenicrs104886207GRCh37Chr X, 107868964: 107868964
387COL4A5NM_000495.4(COL4A5): c.3057delT (p.Ile1020Terfs)deletionPathogenicrs104886208GRCh37Chr X, 107868975: 107868975
388COL4A5NM_000495.4(COL4A5): c.3080G> T (p.Gly1027Val)single nucleotide variantPathogenicrs104886209GRCh37Chr X, 107868998: 107868998
389COL4A5NM_000495.4(COL4A5): c.3088G> A (p.Gly1030Ser)single nucleotide variantPathogenicrs104886210GRCh37Chr X, 107869006: 107869006
390COL4A5NP_203699.1: p.?deletionPathogenic
391COL4A5NM_000495.4(COL4A5): c.3107-2A> Gsingle nucleotide variantPathogenicrs104886379GRCh37Chr X, 107869438: 107869438
392COL4A5NM_000495.4(COL4A5): c.3107G> T (p.Gly1036Val)single nucleotide variantPathogenicrs104886212GRCh37Chr X, 107869440: 107869440
393COL4A5NM_000495.4(COL4A5): c.3115G> A (p.Gly1039Ser)single nucleotide variantPathogenicrs104886214GRCh37Chr X, 107869448: 107869448
394COL4A5NM_000495.4(COL4A5): c.3134G> A (p.Gly1045Glu)single nucleotide variantPathogenicrs104886215GRCh37Chr X, 107869467: 107869467
395COL4A5NM_000495.4(COL4A5): c.3167delC (p.Pro1056Glnfs)deletionPathogenicrs281874711GRCh37Chr X, 107869500: 107869500
396COL4A5NM_000495.4(COL4A5): c.3169G> T (p.Gly1057Ter)single nucleotide variantPathogenicrs104886216GRCh37Chr X, 107869502: 107869502
397COL4A5NM_000495.4(COL4A5): c.3178G> T (p.Gly1060Ter)single nucleotide variantPathogenicrs104886217GRCh37Chr X, 107869511: 107869511
398COL4A5NM_000495.4(COL4A5): c.3181C> T (p.Gln1061Ter)single nucleotide variantPathogenicrs104886213GRCh37Chr X, 107869514: 107869514
399COL4A5NM_000495.4(COL4A5): c.3188G> T (p.Gly1063Val)single nucleotide variantPathogenicrs104886218GRCh37Chr X, 107869521: 107869521
400COL4A5NM_000495.4(COL4A5): c.3196G> C (p.Gly1066Arg)single nucleotide variantPathogenicrs104886219GRCh37Chr X, 107869529: 107869529
401COL4A5NM_000495.4(COL4A5): c.3196G> A (p.Gly1066Ser)single nucleotide variantPathogenicrs104886219GRCh37Chr X, 107869529: 107869529
402COL4A5NM_000495.4(COL4A5): c.3197G> C (p.Gly1066Ala)single nucleotide variantPathogenicrs104886221GRCh37Chr X, 107869530: 107869530
403COL4A5NM_000495.4(COL4A5): c.3206G> T (p.Gly1069Val)single nucleotide variantPathogenicrs281874712GRCh37Chr X, 107869539: 107869539
404COL4A5NM_000495.4(COL4A5): c.3212C> G (p.Ser1071Ter)single nucleotide variantPathogenicrs104886222GRCh37Chr X, 107869545: 107869545
405COL4A5NM_000495.4(COL4A5): c.3247G> A (p.Gly1083Ser)single nucleotide variantPathogenicrs104886223GRCh37Chr X, 107898561: 107898561
406COL4A5NM_033380.2(COL4A5): c.3247-?_3373+?del (p.(?))deletionPathogenicGRCh37Chr X, 107898561: 107898687
407COL4A5NM_000495.4(COL4A5): c.3247-?_5058+?deldeletionPathogenic
408COL4A5NM_033380.2(COL4A5): c.3247-?_3373+?del (p.(?))deletionPathogenicGRCh37Chr X, 107898561: 107898687
409COL4A5NM_000495.4(COL4A5): c.3256G> C (p.Gly1086Arg)single nucleotide variantPathogenicrs104886231GRCh37Chr X, 107898570: 107898570
410COL4A5NM_000495.4(COL4A5): c.3257G> A (p.Gly1086Asp)single nucleotide variantPathogenicrs104886232GRCh37Chr X, 107898571: 107898571
411COL4A5NM_000495.4(COL4A5): c.3289A> T (p.Lys1097Ter)single nucleotide variantPathogenicrs104886233GRCh37Chr X, 107898603: 107898603
412COL4A5NM_000495.4(COL4A5): c.3311G> T (p.Gly1104Val)single nucleotide variantPathogenicrs104886224GRCh37Chr X, 107898625: 107898625
413COL4A5NM_000495.4(COL4A5): c.3319G> A (p.Gly1107Arg)single nucleotide variantPathogenicrs104886225GRCh37Chr X, 107898633: 107898633
414COL4A5NM_000495.4(COL4A5): c.3326_3327insT (p.Gly1110Argfs)insertionPathogenicrs397515492GRCh37Chr X, 107898640: 107898641
415COL4A5NM_000495.4(COL4A5): c.3331delA (p.Thr1111Profs)deletionPathogenicrs104886226GRCh37Chr X, 107898645: 107898645
416COL4A5NM_000495.4(COL4A5): c.3334_3337dupCCTG (p.Gly1113Alafs)duplicationPathogenicrs104886380GRCh37Chr X, 107898648: 107898651
417COL4A5NM_000495.4(COL4A5): c.3347G> T (p.Gly1116Val)single nucleotide variantPathogenicrs281874713GRCh37Chr X, 107898661: 107898661
418COL4A5NM_000495.4(COL4A5): c.3373+1G> Asingle nucleotide variantPathogenicrs281874714GRCh37Chr X, 107898688: 107898688
419COL4A5NM_000495.4(COL4A5): c.3374-11C> Asingle nucleotide variantPathogenicrs104886387GRCh37Chr X, 107908726: 107908726
420COL4A5NM_000495.4(COL4A5): c.3374-?_3790+?deldeletionPathogenicGRCh37Chr X, 107898688: 107913457
421COL4A5NM_000495.3(COL4A5): c.3374-?_5058+?deldeletionPathogenic
422COL4A5NP_203699.1: p.?duplicationPathogenic
423COL4A5NM_000495.4(COL4A5): c.3403_3418del16ins3indelPathogenicrs672601246GRCh37Chr X, 107908766: 107908781
424COL4A5NM_000495.4(COL4A5): c.3413delC (p.Pro1138Leufs)deletionPathogenicrs104886227GRCh37Chr X, 107908776: 107908776
425COL4A5NM_000495.4(COL4A5): c.3427G> A (p.Gly1143Ser)single nucleotide variantPathogenicrs104886228GRCh37Chr X, 107908790: 107908790
426COL4A5NM_000495.4(COL4A5): c.3454+1G> Tsingle nucleotide variantPathogenicrs281874715GRCh37Chr X, 107908818: 107908818
427COL4A5NM_000495.4(COL4A5): c.3455-9A> Gsingle nucleotide variantPathogenicrs104886388GRCh37Chr X, 107909717: 107909717
428COL4A5NM_000495.4(COL4A5): c.3472G> T (p.Gly1158Trp)single nucleotide variantPathogenicrs104886389GRCh37Chr X, 107909743: 107909743
429COL4A5NM_000495.4(COL4A5): c.3474delG (p.Gln1159Asnfs)deletionPathogenicrs104886234GRCh37Chr X, 107909745: 107909745
430COL4A5NM_000495.4(COL4A5): c.3481G> A (p.Gly1161Arg)single nucleotide variantPathogenicrs104886235GRCh37Chr X, 107909752: 107909752
431COL4A5NM_000495.4(COL4A5): c.3499G> A (p.Gly1167Ser)single nucleotide variantPathogenicrs104886236GRCh37Chr X, 107909770: 107909770
432COL4A5NM_000495.4(COL4A5): c.3508G> A (p.Gly1170Ser)single nucleotide variantPathogenicrs104886237GRCh37Chr X, 107909779: 107909779
433COL4A5NM_000495.4(COL4A5): c.3509delG (p.Gly1170Valfs)deletionPathogenicrs104886238GRCh37Chr X, 107909780: 107909780
434COL4A5NM_000495.4(COL4A5): c.3527delG (p.Gly1176Aspfs)deletionPathogenicrs104886239GRCh37Chr X, 107909798: 107909798
435COL4A5NM_000495.4(COL4A5): c.3535G> A (p.Gly1179Arg)single nucleotide variantPathogenicrs104886240GRCh37Chr X, 107909806: 107909806
436COL4A5NM_000495.4(COL4A5): c.3538C> T (p.Gln1180Ter)single nucleotide variantPathogenicrs104886241GRCh37Chr X, 107909809: 107909809
437COL4A5NM_000495.4(COL4A5): c.3543_3549delGGGTGAA (p.Lys1181Asnfs)deletionPathogenicrs281874716GRCh37Chr X, 107909814: 107909820
438COL4A5NM_000495.4(COL4A5): c.3544G> C (p.Gly1182Arg)single nucleotide variantPathogenicrs104886242GRCh37Chr X, 107909815: 107909815
439COL4A5NM_000495.4(COL4A5): c.3554-9C> Gsingle nucleotide variantPathogenicrs104886383GRCh37Chr X, 107910354: 107910354
440COL4A5NM_000495.4(COL4A5): c.3554-3C> Gsingle nucleotide variantPathogenicrs104886382GRCh37Chr X, 107910360: 107910360
441COL4A5NM_000495.4(COL4A5): c.3554-1G> Asingle nucleotide variantPathogenicrs104886381GRCh37Chr X, 107910362: 107910362
442COL4A5COL4A5: c.3554-?_3604+?del (p.?)deletionPathogenicGRCh37Chr X, 107909825: 107911548
443COL4A5NM_000495.4(COL4A5): c.3586G> A (p.Gly1196Arg)single nucleotide variantPathogenicrs104886244GRCh37Chr X, 107910395: 107910395
444COL4A5NM_000495.4(COL4A5): c.3587G> A (p.Gly1196Glu)single nucleotide variantPathogenicrs281874717GRCh37Chr X, 107910396: 107910396
445COL4A5NP_203699.1: p.?single nucleotide variantPathogenic
446COL4A5NP_203699.1: p.?single nucleotide variantPathogenic
447COL4A5NM_000495.4(COL4A5): c.3605-2A> Gsingle nucleotide variantPathogenicrs104886385GRCh37Chr X, 107911547: 107911547
448COL4A5NM_000495.4(COL4A5): c.3605-1G> Asingle nucleotide variantPathogenicrs104886384GRCh37Chr X, 107911548: 107911548
449COL4A5NM_000495.3(COL4A5): c.3605-?_5058+?deldeletionPathogenic
450COL4A5NM_000495.4(COL4A5): c.3613G> T (p.Gly1205Cys)single nucleotide variantPathogenicrs104886245GRCh37Chr X, 107911557: 107911557
451COL4A5NM_000495.4(COL4A5): c.3613G> A (p.Gly1205Ser)single nucleotide variantPathogenicrs104886245GRCh37Chr X, 107911557: 107911557
452COL4A5NP_203699.1: p.Asp1206fsdeletionPathogenic
453COL4A5NM_000495.4(COL4A5): c.3631G> C (p.Gly1211Arg)single nucleotide variantPathogenicrs104886246GRCh37Chr X, 107911575: 107911575
454COL4A5NM_000495.4(COL4A5): c.3632G> A (p.Gly1211Glu)single nucleotide variantPathogenicrs104886247GRCh37Chr X, 107911576: 107911576
455COL4A5NM_000495.4(COL4A5): c.3641G> A (p.Gly1214Glu)single nucleotide variantPathogenicrs104886248GRCh37Chr X, 107911585: 107911585
456COL4A5NM_000495.4(COL4A5): c.3647delC (p.Pro1216Leufs)deletionPathogenicrs104886249GRCh37Chr X, 107911591: 107911591
457COL4A5NM_000495.4(COL4A5): c.3657_3728del72 (p.Lys1222_Pro1245del)deletionPathogenicrs104886391GRCh37Chr X, 107911601: 107911672
458COL4A5NM_000495.4(COL4A5): c.3659G> A (p.Gly1220Asp)single nucleotide variantPathogenicrs104886251GRCh37Chr X, 107911603: 107911603
459COL4A5NM_000495.4(COL4A5): c.3668G> T (p.Gly1223Val)single nucleotide variantPathogenicrs104886252GRCh37Chr X, 107911612: 107911612
460COL4A5NM_000495.4(COL4A5): c.3686G> A (p.Gly1229Asp)single nucleotide variantPathogenicrs104886253GRCh37Chr X, 107911630: 107911630
461COL4A5NM_000495.4(COL4A5): c.3692delC (p.Pro1231Leufs)deletionPathogenicrs104886254GRCh37Chr X, 107911636: 107911636
462COL4A5NM_000495.4(COL4A5): c.3692dupC (p.Gly1232Trpfs)duplicationPathogenicrs281874718GRCh37Chr X, 107911636: 107911636
463COL4A5NM_000495.4(COL4A5): c.3694G> A (p.Gly1232Ser)single nucleotide variantPathogenicrs104886250GRCh37Chr X, 107911638: 107911638
464COL4A5NM_000495.4(COL4A5): c.3700C> T (p.Gln1234Ter)single nucleotide variantPathogenicrs281874719GRCh37Chr X, 107911644: 107911644
465COL4A5NM_000495.4(COL4A5): c.3706_3722del17insT (p.Pro1236Phefs)indelPathogenicrs281874720GRCh37Chr X, 107911650: 107911666
466COL4A5NM_000495.4(COL4A5): c.3710_3761del52 (p.Pro1237Leufs)deletionPathogenicrs104886393GRCh37Chr X, 107911654: 107911705
467COL4A5NM_000495.4(COL4A5): c.3709_3710dupCC (p.Gly1238Glnfs)duplicationPathogenicrs104886392GRCh37Chr X, 107911653: 107911654
468COL4A5NM_000495.4(COL4A5): c.3721G> T (p.Gly1241Cys)single nucleotide variantPathogenicrs104886255GRCh37Chr X, 107911665: 107911665
469COL4A5NM_000495.4(COL4A5): c.3722G> T (p.Gly1241Val)single nucleotide variantPathogenicrs281874721GRCh37Chr X, 107911666: 107911666
470COL4A5NM_000495.4(COL4A5): c.3731G> A (p.Gly1244Asp)single nucleotide variantPathogenicrs104886261GRCh37Chr X, 107911675: 107911675
471COL4A5NM_000495.4(COL4A5): c.3754G> A (p.Gly1252Ser)single nucleotide variantPathogenicrs104886262GRCh37Chr X, 107911698: 107911698
472COL4A5NM_000495.4(COL4A5): c.3754_3757dupGGCA (p.Asn1253Argfs)duplicationPathogenicrs104886394GRCh37Chr X, 107911698: 107911701
473COL4A5NM_000495.4(COL4A5): c.3763G> A (p.Gly1255Arg)single nucleotide variantPathogenicrs104886263GRCh37Chr X, 107911707: 107911707
474COL4A5NM_000495.4(COL4A5): c.3782G> A (p.Gly1261Glu)single nucleotide variantPathogenicrs104886264GRCh37Chr X, 107911726: 107911726
475COL4A5NM_000495.4(COL4A5): c.3790+1delGdeletionPathogenicrs104886256GRCh37Chr X, 107911735: 107911735
476COL4A5COL4A5: c.3791-?_3924+?del (p.?)deletionPathogenicGRCh37Chr X, 107917984: 107923908
477COL4A5NM_000495.4(COL4A5): c.3808G> A (p.Gly1270Ser)single nucleotide variantPathogenicrs104886257GRCh37Chr X, 107920747: 107920747
478COL4A5NM_000495.4(COL4A5): c.3814delC (p.Pro1272Glnfs)deletionPathogenicrs104886258GRCh37Chr X, 107920753: 107920753
479COL4A5NM_000495.4(COL4A5): c.3866_3869dupAACC (p.Gly1291Thrfs)duplicationPathogenicrs606231370GRCh37Chr X, 107920805: 107920808
480COL4A5NM_000495.4(COL4A5): c.3920delT (p.Leu1307Profs)deletionPathogenicrs104886259GRCh37Chr X, 107920859: 107920859
481COL4A5NM_000495.4(COL4A5): c.3924G> C (p.Gln1308His)single nucleotide variantPathogenicrs281874724GRCh37Chr X, 107920863: 107920863
482COL4A5NM_033380.2(COL4A5): c.3942+1G> C (p.?)single nucleotide variantPathogenicrs483352870GRCh37Chr X, 107920864: 107920864
483COL4A5NM_000495.4(COL4A5): c.3925-2A> Gsingle nucleotide variantPathogenicrs587776400GRCh37Chr X, 107923907: 107923907
484COL4A5NM_000495.4(COL4A5): c.3925-1G> Asingle nucleotide variantPathogenicrs281874725GRCh37Chr X, 107923908: 107923908
485COL4A5NM_000495.4(COL4A5): c.3925-?_4069+?deldeletionPathogenic
486COL4A5NM_000495.4(COL4A5): c.3958A> T (p.Lys1320Ter)single nucleotide variantPathogenicrs104886260GRCh37Chr X, 107923942: 107923942
487COL4A5NM_000495.4(COL4A5): c.3992delT (p.Phe1331Serfs)deletionPathogenicrs104886265GRCh37Chr X, 107923976: 107923976
488COL4A5NM_000495.4(COL4A5): c.3997G> A (p.Gly1333Ser)single nucleotide variantPathogenicrs104886266GRCh37Chr X, 107923981: 107923981
489COL4A5NM_000495.4(COL4A5): c.3998-2A> Tsingle nucleotide variantPathogenicrs104886397GRCh37Chr X, 107924113: 107924113
490COL4A5NM_000495.4(COL4A5): c.3998-2A> Gsingle nucleotide variantPathogenicrs104886397GRCh37Chr X, 107924113: 107924113
491COL4A5NM_000495.4(COL4A5): c.4006G> T (p.Gly1336Ter)single nucleotide variantPathogenicGRCh37Chr X, 107924123: 107924123
492COL4A5p.Pro1350_Gly1351del,p.Gly1348GludeletionPathogenic
493COL4A5NM_000495.4(COL4A5): c.4069G> A (p.Gly1357Ser)single nucleotide variantPathogenicrs104886267GRCh37Chr X, 107924186: 107924186
494COL4A5NM_000495.4(COL4A5): c.4069+1G> Asingle nucleotide variantPathogenicrs587776401GRCh37Chr X, 107924187: 107924187
495COL4A5NP_203699.1: p.?deletionPathogenic
496COL4A5NM_000495.4(COL4A5): c.4071delT (p.Pro1358Leufs)deletionPathogenicrs104886268GRCh37Chr X, 107924991: 107924991
497COL4A5NM_000495.4(COL4A5): c.4102_4103delAG (p.Ser1368Tyrfs)deletionPathogenicrs104886403GRCh37Chr X, 107925022: 107925023
498COL4A5NM_000495.4(COL4A5): c.4136G> T (p.Gly1379Val)single nucleotide variantPathogenicrs104886269GRCh37Chr X, 107925056: 107925056
499COL4A5NM_000495.4(COL4A5): c.4147C> T (p.Gln1383Ter)single nucleotide variantPathogenicrs281874727GRCh37Chr X, 107925067: 107925067
500COL4A5NM_000495.4(COL4A5): c.4161_4162insTCCT (p.Gly1388Serfs)insertionPathogenicrs606231371GRCh37Chr X, 107925081: 107925082
501COL4A5NM_000495.4(COL4A5): c.4171G> T (p.Gly1391Ter)single nucleotide variantPathogenicrs281874728GRCh37Chr X, 107925091: 107925091
502COL4A5NM_000495.4(COL4A5): c.4175delC (p.Gln1393Lysfs)deletionPathogenicrs281874729GRCh37Chr X, 107925095: 107925095
503COL4A5NM_000495.4(COL4A5): c.4177C> T (p.Gln1393Ter)single nucleotide variantPathogenicrs104886405GRCh37Chr X, 107925097: 107925097
504COL4A5NM_000495.4(COL4A5): c.4177delC (p.Gln1393Lysfs)deletionPathogenicrs281874730GRCh37Chr X, 107925097: 107925097
505COL4A5NM_000495.4(COL4A5): c.4196dupC (p.Gly1400Argfs)duplicationPathogenicrs104886409GRCh37Chr X, 107925116: 107925116
506COL4A5NM_000495.4(COL4A5): c.4199-1G> Asingle nucleotide variantPathogenicrs587776402GRCh37Chr X, 107929260: 107929260
507COL4A5NP_203699.1: p.?deletionPathogenic
508COL4A5NM_000495.4(COL4A5): c.4214dupC (p.Gly1406Argfs)duplicationPathogenicrs281874731GRCh37Chr X, 107929276: 107929276
509COL4A5NM_000495.4(COL4A5): c.4228C> T (p.Arg1410Cys)single nucleotide variantPathogenicrs104886270GRCh37Chr X, 107929290: 107929290
510COL4A5NM_000495.4(COL4A5): c.4261G> T (p.Gly1421Trp)single nucleotide variantPathogenicrs104886272GRCh37Chr X, 107929323: 107929323
511COL4A5NM_000495.4(COL4A5): c.4279G> T (p.Gly1427Cys)single nucleotide variantPathogenicrs104886273GRCh37Chr X, 107929341: 107929341
512COL4A5NM_000495.4(COL4A5): c.4280G> T (p.Gly1427Val)single nucleotide variantPathogenicrs104886274GRCh37Chr X, 107929342: 107929342
513COL4A5NM_000495.4(COL4A5): c.4297+1G> Asingle nucleotide variantPathogenicrs587776403GRCh37Chr X, 107929360: 107929360
514COL4A5NM_033380.2(COL4A5): c.4316-1G> C (p.?)single nucleotide variantPathogenicrs281874734GRCh37Chr X, 107930711: 107930711
515COL4A5NP_203699.1: p.?deletionPathogenic
516COL4A5NM_000495.4(COL4A5)duplicationPathogenicrs281874736GRCh37Chr X, 107930729: 107930764
517COL4A5NM_000495.4(COL4A5): c.4324G> C (p.Gly1442Arg)single nucleotide variantPathogenicrs104886276GRCh37Chr X, 107930738: 107930738
518COL4A5NM_000495.4(COL4A5): c.4325_4351del27 (p.Asp1444_Pro1452del)deletionPathogenicrs104886412GRCh37Chr X, 107930739: 107930765
519COL4A5NM_000495.4(COL4A5): c.4351G> A (p.Gly1451Ser)single nucleotide variantPathogenicrs104886280GRCh37Chr X, 107930765: 107930765
520COL4A5NM_000495.4(COL4A5): c.4325G> C (p.Gly1442Ala)single nucleotide variantPathogenicrs104886277GRCh37Chr X, 107930739: 107930739
521COL4A5NM_000495.4(COL4A5): c.4325G> A (p.Gly1442Asp)single nucleotide variantPathogenicrs104886277GRCh37Chr X, 107930739: 107930739
522COL4A5NM_000495.4(COL4A5): c.4342G> A (p.Gly1448Ser)single nucleotide variantPathogenicrs104886279GRCh37Chr X, 107930756: 107930756
523COL4A5NM_000495.4(COL4A5): c.4344_4345insT (p.Pro1449Serfs)duplicationPathogenicrs104886418GRCh37Chr X, 107930758: 107930758
524COL4A5NM_000495.4(COL4A5): c.4349delC (p.Pro1450Glnfs)deletionPathogenicrs104886275GRCh37Chr X, 107930763: 107930763
525COL4A5NM_000495.4(COL4A5): c.4436_4437delGA (p.Gly1479Aspfs)deletionPathogenicrs104886420GRCh37Chr X, 107930850: 107930851
526COL4A5NM_000495.4(COL4A5): c.4437delA (p.Thr1480Hisfs)deletionPathogenicrs104886281GRCh37Chr X, 107930851: 107930851
527COL4A5NM_000495.4(COL4A5): c.4457G> C (p.Gly1486Ala)single nucleotide variantPathogenicrs104886282GRCh37Chr X, 107930871: 107930871
528COL4A5NM_000495.4(COL4A5): c.4463C> T (p.Ser1488Phe)single nucleotide variantPathogenicrs104886283GRCh37Chr X, 107930877: 107930877
529COL4A5NM_000495.4(COL4A5): c.4491_4492delAG (p.Arg1497Serfs)deletionPathogenicrs104886421GRCh37Chr X, 107930905: 107930906
530COL4A5NM_000495.4(COL4A5): c.4493C> A (p.Ala1498Asp)single nucleotide variantPathogenicrs104886284GRCh37Chr X, 107930907: 107930907
531COL4A5NM_000495.4(COL4A5): c.4501C> T (p.Gln1501Ter)single nucleotide variantPathogenicrs281874741GRCh37Chr X, 107930915: 107930915
532COL4A5NM_000495.4(COL4A5): c.4510+1G> Csingle nucleotide variantPathogenicrs104886413GRCh37Chr X, 107930925: 107930925
533COL4A5NM_000495.4(COL4A5): c.4513delA (p.Thr1505Argfs)deletionPathogenicrs281874742GRCh37Chr X, 107935980: 107935980
534COL4A5NP_203699.1: p.Thr1505fsindelPathogenic
535COL4A5NM_000495.4(COL4A5): c.4549C> A (p.Pro1517Thr)single nucleotide variantPathogenicrs201220208GRCh37Chr X, 107936016: 107936016
536COL4A5NM_000495.4(COL4A5): c.4563C> A (p.Cys1521Ter)single nucleotide variantPathogenicrs104886292GRCh37Chr X, 107936030: 107936030
537COL4A5NM_000495.4(COL4A5): c.4613G> C (p.Trp1538Ser)single nucleotide variantPathogenicrs104886293GRCh37Chr X, 107936080: 107936080
538COL4A5NM_000495.4(COL4A5): c.4614G> A (p.Trp1538Ter)single nucleotide variantPathogenicrs104886294GRCh37Chr X, 107936081: 107936081
539COL4A5NP_203699.1: p.Ser1562fsdeletionPathogenic
540COL4A5NM_000495.4(COL4A5): c.4687C> T (p.Arg1563Ter)single nucleotide variantPathogenicrs104886286GRCh37Chr X, 107936154: 107936154
541COL4A5NM_000495.4(COL4A5): c.4690T> C (p.Cys1564Arg)single nucleotide variantPathogenicrs281874745GRCh37Chr X, 107938038: 107938038
542COL4A5NM_000495.4(COL4A5): c.4688G> A (p.Arg1563Gln)single nucleotide variantPathogenicrs281874743GRCh37Chr X, 107936155: 107936155
543COL4A5NM_000495.4(COL4A5): c.4689-30_4689-9del22insCAindelPathogenicrs281874744GRCh37Chr X, 107938007: 107938028
544COL4A5NM_033380.3(COL4A5): c.4707-3_4735del (p.?)deletionPathogenicGRCh37Chr X, 107938034: 107938065
545COL4A5NM_000495.3(COL4A5): c.4689-?_5058+?deldeletionPathogenic
546COL4A5NM_000495.4(COL4A5): c.4691G> C (p.Cys1564Ser)single nucleotide variantPathogenicrs104886287GRCh37Chr X, 107938039: 107938039
547COL4A5NM_000495.4(COL4A5): c.4699T> C (p.Cys1567Arg)single nucleotide variantPathogenicrs104886288GRCh37Chr X, 107938047: 107938047
548COL4A5NM_000495.4(COL4A5): c.4702G> A (p.Glu1568Lys)single nucleotide variantPathogenicrs281874746GRCh37Chr X, 107938050: 107938050
549COL4A5NM_000495.4(COL4A5): c.4750_4756delCCCCATT (p.Pro1584Valfs)deletionPathogenicrs606231374GRCh37Chr X, 107938098: 107938104
550COL4A5NM_000495.4(COL4A5): c.4751C> T (p.Pro1584Leu)single nucleotide variantPathogenicrs281874747GRCh37Chr X, 107938099: 107938099
551COL4A5NM_000495.4(COL4A5): c.4756T> C (p.Cys1586Arg)single nucleotide variantPathogenicrs104886289GRCh37Chr X, 107938104: 107938104
552COL4A5NM_000495.4(COL4A5): c.4757G> T (p.Cys1586Phe)single nucleotide variantPathogenicrs104886290GRCh37Chr X, 107938105: 107938105
553COL4A5NM_000495.4(COL4A5): c.4766G> T (p.Gly1589Val)single nucleotide variantPathogenicrs104886291GRCh37Chr X, 107938114: 107938114
554COL4A5NM_000495.4(COL4A5): c.4768T> G (p.Trp1590Gly)single nucleotide variantPathogenicrs104886296GRCh37Chr X, 107938116: 107938116
555COL4A5NM_000495.4(COL4A5): c.4787G> A (p.Gly1596Asp)single nucleotide variantPathogenicrs104886297GRCh37Chr X, 107938135: 107938135
556COL4A5NM_000495.4(COL4A5): c.4790A> G (p.Tyr1597Cys)single nucleotide variantPathogenicrs104886298GRCh37Chr X, 107938138: 107938138
557COL4A5NM_000495.4(COL4A5): c.4791T> A (p.Tyr1597Ter)single nucleotide variantPathogenicrs104886299GRCh37Chr X, 107938139: 107938139
558COL4A5NM_000495.4(COL4A5): c.4803G> A (p.Met1601Ile)single nucleotide variantPathogenicrs104886300GRCh37Chr X, 107938151: 107938151
559COL4A5NP_203699.1: p.?insertionPathogenic
560COL4A5NM_000495.4(COL4A5): c.4803+1G> Asingle nucleotide variantPathogenicrs587776404GRCh37Chr X, 107938152: 107938152
561COL4A5NM_000495.4(COL4A5): c.4803+121T> Csingle nucleotide variantPathogenicrs104886423GRCh37Chr X, 107938272: 107938272
562COL4A5NM_033380.2(COL4A5): c.4822-151_4822-150insT (p.?)insertionPathogenicrs397515494GRCh37Chr X, 107938346: 107938347
563COL4A5NM_000495.4(COL4A5): c.4832delG (p.Gly1611Valfs)deletionPathogenicrs104886301GRCh37Chr X, 107938525: 107938525
564COL4A5NM_000495.4(COL4A5): c.4894T> G (p.Cys1632Gly)single nucleotide variantPathogenicrs281874750GRCh37Chr X, 107938587: 107938587
565COL4A5NM_000495.4(COL4A5): c.4913G> A (p.Cys1638Tyr)single nucleotide variantPathogenicrs104886302GRCh37Chr X, 107938606: 107938606
566COL4A5NM_000495.4(COL4A5): c.4968delC (p.Asp1656Glufs)deletionPathogenicrs104886304GRCh37Chr X, 107938661: 107938661
567COL4A5NM_000495.4(COL4A5): c.4976G> A (p.Ser1659Asn)single nucleotide variantPathogenicrs104886305GRCh37Chr X, 107938669: 107938669
568COL4A5NM_000495.4(COL4A5): c.4977-2A> Gsingle nucleotide variantPathogenicrs281874752GRCh37Chr X, 107939525: 107939525
569COL4A5NM_000495.4(COL4A5): c.4994_5001delCGCTGAAA (p.Thr1665Serfs)deletionPathogenicrs104886426GRCh37Chr X, 107939544: 107939551
570COL4A5NM_000495.4(COL4A5): c.5020C> T (p.Arg1674Ter)single nucleotide variantPathogenicrs281874753GRCh37Chr X, 107939570: 107939570
571COL4A5NM_000495.4(COL4A5): c.5029C> T (p.Arg1677Ter)single nucleotide variantPathogenicrs104886306GRCh37Chr X, 107939579: 107939579
572COL4A5NM_000495.4(COL4A5): c.5030G> C (p.Arg1677Pro)single nucleotide variantPathogenicrs104886308GRCh37Chr X, 107939580: 107939580
573COL4A5NM_000495.4(COL4A5): c.5032T> C (p.Cys1678Arg)single nucleotide variantPathogenicrs104886310GRCh37Chr X, 107939582: 107939582
574COL4A5NM_000495.4(COL4A5): c.5034delT (p.Gln1679Lysfs)deletionPathogenicrs104886307GRCh37Chr X, 107939584: 107939584
575COL4A5NM_000495.4(COL4A5): c.5034T> G (p.Cys1678Trp)single nucleotide variantPathogenicrs104886311GRCh37Chr X, 107939584: 107939584
576COL4A5NM_000495.4(COL4A5): c.5042G> T (p.Cys1681Phe)single nucleotide variantPathogenicrs281874754GRCh37Chr X, 107939592: 107939592
577NM_000495.4(COL4A5): c.(?_-202)-1982_(81_?)deldeletionPathogenicGRCh37Chr X, 107681172: 107683436
578COL4A5NM_000495.3(COL4A5): c.1-?_3246+?deldeletionPathogenic
579NM_000495.4(COL4A5): c.(?_-202)-1982_(81_?)deldeletionPathogenicGRCh37Chr X, 107681172: 107683436
580NM_000495.3(COL4A5): c.1-?_5058+?deldeletionPathogenicGRCh37Chr X, 107681416: 107939608
581COL4A5NM_000495.3(COL4A5): c.1-?_5058+?deldeletionPathogenic
582COL4A5c82-?_5058+?deldeletionPathogenic
583COL4A5NM_000495.4(COL4A5): c.430G> C (p.Gly144Arg)single nucleotide variantPathogenicrs104886052GRCh37Chr X, 107814688: 107814688
584COL4A5NM_000495.4(COL4A5): c.438+2T> Csingle nucleotide variantPathogenicrs281874738GRCh37Chr X, 107814698: 107814698
585COL4A5NM_000495.4(COL4A5): c.476delG (p.Gly159Valfs)deletionPathogenicrs281874748GRCh37Chr X, 107816814: 107816814
586COL4A5NM_000495.4(COL4A5): c.573_574insGA (p.Gly192Glufs)insertionPathogenicrs281874757GRCh37Chr X, 107819166: 107819167
587COL4A5NM_000495.4(COL4A5): c.665T> G (p.Phe222Cys)single nucleotide variantPathogenicrs281874761GRCh37Chr X, 107821327: 107821327
588COL4A5NM_000495.4(COL4A5): c.682G> T (p.Glu228Ter)single nucleotide variantPathogenicrs281874762GRCh37Chr X, 107821344: 107821344
589COL4A5NM_000495.4(COL4A5): c.788delC (p.Pro263Leufs)deletionPathogenicrs281874764GRCh37Chr X, 107823770: 107823770
590COL4A5NM_000495.4(COL4A5): c.1135C> T (p.Gln379Ter)single nucleotide variantPathogenicrs281874657GRCh37Chr X, 107829947: 107829947
591COL4A5NM_000495.4(COL4A5): c.1216G> A (p.Gly406Ser)single nucleotide variantPathogenicrs281874660GRCh37Chr X, 107834338: 107834338
592COL4A5NM_000495.4(COL4A5): c.1589G> A (p.Gly530Asp)single nucleotide variantPathogenicrs281874671GRCh37Chr X, 107840608: 107840608
593COL4A5NM_000495.4(COL4A5): c.1744G> A (p.Gly582Arg)single nucleotide variantPathogenicrs281874677GRCh37Chr X, 107840763: 107840763
594COL4A5NM_000495.4(COL4A5): c.1835G> A (p.Gly612Asp)single nucleotide variantPathogenicrs281874680GRCh37Chr X, 107841987: 107841987
595COL4A5NM_000495.4(COL4A5): c.1883C> T (p.Pro628Leu)single nucleotide variantPathogenicrs281874682GRCh37Chr X, 107842035: 107842035
596COL4A5c1949-?_2395+?deldeletionPathogenic
597COL4A5NM_000495.4(COL4A5): c.2014G> C (p.Gly672Arg)single nucleotide variantPathogenicrs281874685GRCh37Chr X, 107844688: 107844688
598COL4A5NM_000495.4(COL4A5): c.2164G> C (p.Gly722Arg)single nucleotide variantPathogenicrs281874687GRCh37Chr X, 107846211: 107846211
599COL4A5NM_000495.4(COL4A5)indelPathogenicrs397515495GRCh37Chr X, 107858179: 107858186
600COL4A5NM_000495.4(COL4A5): c.2483G> A (p.Gly828Glu)single nucleotide variantPathogenicrs281874695GRCh37Chr X, 107858228: 107858228
601COL4A5c2510-?_3246+?deldeletionPathogenic
602COL4A5NM_000495.4(COL4A5): c.2587_2606del20ins75 (p.?)indelPathogenicGRCh37Chr X, 107863566: 107863585
603COL4A5NM_000495.4(COL4A5): c.2623G> C (p.Gly875Arg)single nucleotide variantPathogenicrs281874698GRCh37Chr X, 107863602: 107863602
604COL4A5NM_000495.4(COL4A5): c.2678G> T (p.Gly893Val)single nucleotide variantPathogenicrs397515496GRCh37Chr X, 107865033: 107865033
605COL4A5NM_000495.4(COL4A5): c.2696_2705delGTATGATGGG (p.Gly899Aspfs)deletionPathogenicrs281874701GRCh37Chr X, 107865051: 107865060
606COL4A5NM_000495.4(COL4A5): c.2696G> T (p.Gly899Val)single nucleotide variantPathogenicrs281874702GRCh37Chr X, 107865051: 107865051
607COL4A5NM_000495.3(COL4A5): c.2918-?_5058+?deldeletionPathogenic
608COL4A5NM_000495.4(COL4A5): c.2947delT (p.Tyr983Ilefs)deletionPathogenicrs281874708GRCh37Chr X, 107867495: 107867495
609COL4A5NM_000495.4(COL4A5): c.3107-4A> Gsingle nucleotide variantPathogenicrs397515497GRCh37Chr X, 107869436: 107869436
610COL4A5NM_000495.4(COL4A5): c.3017-?_3246+?deldeletionPathogenic
611COL4A5NM_000495.4(COL4A5): c.3046delC (p.Gln1016Serfs)deletionPathogenicrs281874710GRCh37Chr X, 107868964: 107868964
612COL4A5c3247-?_4198+?deldeletionPathogenic
613COL4A5notavailableinsertionPathogenic
614COL4A5NM_000495.3(COL4A5): c.[3837_3845del;3857dupA]deletionPathogenic
615COL4A5ins10-15kb(intron46);del25kbindelPathogenic
616COL4A5NM_000495.4(COL4A5): c.4235delG (p.Gly1412Aspfs)deletionPathogenicrs281874732GRCh37Chr X, 107929297: 107929297
617COL4A5NM_000495.3: c.4253_4262del;4263_4280dupdeletionPathogenic
618COL4A5NM_000495.4(COL4A5): c.4271G> A (p.Gly1424Glu)single nucleotide variantPathogenicrs281874733GRCh37Chr X, 107929333: 107929333
619COL4A5NM_000495.4(COL4A5): c.4280G> C (p.Gly1427Ala)single nucleotide variantPathogenicrs104886274GRCh37Chr X, 107929342: 107929342
620COL4A5NM_000495.4(COL4A5): c.4298G> T (p.Gly1433Val)single nucleotide variantPathogenicrs281874735GRCh37Chr X, 107930712: 107930712
621COL4A5NM_000495.4(COL4A5): c.4439C> G (p.Thr1480Arg)single nucleotide variantPathogenicrs281874740GRCh37Chr X, 107930853: 107930853
622COL4A5ins10-15kb(intron47);del~40kb3'toCOL4A5indelPathogenic
623COL4A5NM_000495.4(COL4A5): c.4780_4781delTG (p.Trp1594Aspfs)deletionPathogenicrs281874749GRCh37Chr X, 107938128: 107938129
624COL4A5NM_000495.4(COL4A5): c.4942dupT (p.Trp1648Leufs)duplicationPathogenicrs281874751GRCh37Chr X, 107938635: 107938635
625COL4A5NM_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 24)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6LAMA5, TGFB1
29.5COL1A1, COL1A2
39.4COL4A1, COL4A2, COL4A3, COL4A4
49.1COL4A1, COL4A2, COL4A3, COL4A4, COL4A5
59.1COL1A1, COL1A2, LAMA5
68.8COL1A1, COL1A2, COL4A1, COL4A2
78.5COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
8
Show member pathways
8.4ALB, COL1A1, COL1A2, COL4A1, COL4A2
9
Show member pathways
8.4ALB, COL1A1, COL1A2, COL4A1, COL4A2
108.4COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
11
Show member pathways
8.4COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, MYH9
127.9COL1A1, COL1A2, COL4A1, COL4A2, COL4A3, COL4A4
137.9COL1A1, COL1A2, COL4A1, COL4A2, COL4A3, COL4A4
14
Show member pathways
7.9COL1A1, COL1A2, COL4A1, COL4A2, COL4A3, COL4A4
157.9COL1A1, COL1A2, COL4A1, COL4A2, COL4A3, COL4A4
16
Show member pathways
7.7COL1A1, COL1A2, COL4A1, COL4A2, COL4A3, COL4A4
17
Show member pathways
7.6COL1A1, COL1A2, COL4A1, COL4A2, COL4A3, COL4A4
187.6COL1A1, COL1A2, COL4A1, COL4A2, COL4A3, COL4A4
197.2CFH, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5
207.0COL1A1, COL1A2, COL4A1, COL4A2, COL4A3, COL4A4
21
Show member pathways
7.0COL1A1, COL1A2, COL4A1, COL4A2, COL4A3, COL4A4
22
Show member pathways
6.8COL1A1, COL1A2, COL4A1, COL4A2, COL4A3, COL4A4
23
Show member pathways
6.8COL1A1, COL1A2, COL4A1, COL4A2, COL4A3, COL4A4
24
Show member pathways
6.4CD79A, COL1A1, COL1A2, COL4A1, COL4A2, COL4A3

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
1basal laminaGO:000560510.3COL4A4, COL4A5, LAMA5
2collagen type I trimerGO:000558410.2COL1A1, COL1A2
3blood microparticleGO:00725629.2ALB, CFH, TGFB1
4collagen type IV trimerGO:00055879.0COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
5basement membraneGO:00056048.5COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
6extracellular matrixGO:00310128.2COL1A1, COL1A2, COL4A1, COL4A2, LAMA5
7collagen trimerGO:00055818.0COL1A1, COL1A2, COL4A1, COL4A2, COL4A3, COL4A4
8endoplasmic reticulum lumenGO:00057887.8COL1A1, COL1A2, COL4A1, COL4A2, COL4A3, COL4A4
9extracellular regionGO:00055765.8ALB, CFH, COL1A1, COL1A2, COL4A1, COL4A2

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:003283610.6COL4A3, COL4A4
2skin morphogenesisGO:004358910.2COL1A1, COL1A2
3protein heterotrimerizationGO:007020810.0COL1A1, COL1A2
4leukocyte migrationGO:00509009.7COL1A1, COL1A2, MYH9
5cellular response to transforming growth factor beta stimulusGO:00715609.6COL1A1, COL4A2, TGFB1
6cellular response to amino acid stimulusGO:00712309.1COL1A1, COL1A2, COL4A1, COL4A6
7axon guidanceGO:00074119.0COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, MYH9
8receptor-mediated endocytosisGO:00068988.7ALB, COL1A1, COL1A2, COL4A1, COL4A2
9platelet activationGO:00301688.3ALB, COL1A1, COL1A2, TGFB1
10collagen catabolic processGO:00305748.2COL1A1, COL1A2, COL4A1, COL4A2, COL4A3, COL4A4
11extracellular matrix disassemblyGO:00226177.8COL1A1, COL1A2, COL4A1, COL4A2, COL4A3, COL4A4
12extracellular matrix organizationGO:00301987.0COL1A1, COL1A2, COL4A1, COL4A2, COL4A3, COL4A4

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

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:00484079.2COL1A1, COL1A2, COL4A1
2extracellular matrix structural constituentGO:00052017.6COL1A1, COL1A2, COL4A1, COL4A2, COL4A3, COL4A4

Sources for Alport Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet