MCID: ALP004
MIFTS: 60

Alport Syndrome malady

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

Aliases & Classifications for Alport Syndrome

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Sources:
45OMIM, 30LifeMap Discovery®, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 55SNOMED-CT, 33MeSH, 26ICD10 via Orphanet, 61UMLS via Orphanet, 34MESH via Orphanet
See all sources

Alport Syndrome, Aliases & Descriptions:

Name: Alport Syndrome 45 30 9 10 41 21 11 47 60
Hemorrhagic Hereditary Nephritis 41 21 60
Alport Syndrome, X-Linked 41 43 60
Hereditary Nephritis 9 21 60
Congenital Hereditary Hematuria 41 21
Hemorrhagic Familial Nephritis 41 21
X-Linked Alport Syndrome 41 47
 
Alports Syndrome 43 22
Hereditary Familial Congenital Hemorrhagic Nephritis 21
Hematuria-Nephropathy-Deafness Syndrome 21
Hereditary Interstitial Pyelonephritis 21
Hematuric Hereditary Nephritis 21
Hereditary Hematuria Syndrome 21
Alport Deafness-Nephropathy 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
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:

OMIM45 301050
Disease Ontology9 DOID:10983
MeSH33 D009394
Orphanet47 63, 88917
SNOMED-CT55 399340005, 57333009
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C1567741, C1567742
MESH via Orphanet34 D009394

Summaries for Alport Syndrome

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OMIM:45 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 hemorrhagic hereditary nephritis, is related to alport syndrome, autosomal recessive and alport syndrome, autosomal dominant, 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 Integrin cell surface interactions and NCAM signaling for neurite out-growth. The compound arresten have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and skin, and related mouse phenotypes are hearing/vestibular/ear and renal/urinary system.

Disease Ontology:9 A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss.

NIH Rare Diseases:41 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:21 Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.

Wikipedia:63 Alport syndrome or hereditary nephritis is a genetic disorder characterized by glomerulonephritis,... more...

Related Diseases for Alport Syndrome

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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 59)
idRelated DiseaseScoreTop Affiliating Genes
1alport syndrome, autosomal recessive31.5COL4A4, COL4A3
2alport syndrome, autosomal dominant31.5COL4A4, COL4A3
3leiomyomatosis31.4COL4A6, COL4A5
4nephritis30.9COL4A4, COL4A5, COL4A3, MYH9
5kidney disease30.6MYH9, COL4A3
6proteinuria30.5COL4A5, COL4A4, MYH9, COL4A3
7hematuria, benign familial30.5COL4A3, COL4A4
8glomerulonephritis30.4MYH9, COL4A5, COL4A3, COL4A4
9cataract30.3MYH9, COL4A6, COL4A5
10alport syndrome and thin basement membrane nephropathy10.6
11esophagitis10.5
12alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis10.4
13macular holes10.4
14retinitis10.4
15mental retardation10.3
16alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis10.3
17corneal dystrophy, posterior polymorphous, 110.3VSX1
18fechtner syndrome10.3
19x-linked diffuse leiomyomatosis - alport syndrome10.3
20hereditary elliptocytosis10.2COL4A5, ACSL4
21goodpasture syndrome10.2COL4A3, COL4A3BP
22epstein syndrome10.2
23end stage renal failure10.2
24renal fibrosis10.2
25peritonitis10.2
26leiomyomatosis, esophageal and vulval, with nephropathy10.2
27myh9 related thrombocytopenia10.2
28sensorineural hearing loss10.1MYH9, COL4A5
29leiomyoma10.1COL4A6, COL4A5
30primary hyperoxaluria10.0COL4A4, COL4A5
31frasier syndrome10.0
32may-hegglin anomaly10.0
33sebastian syndrome10.0
34keratitis10.0
35multiple sclerosis, disease progression, modifier of10.0
36pulmonary fibrosis10.0
37membranoproliferative glomerulonephritis10.0
38neurofibromatosis10.0
39polycystic kidney disease10.0
40nephrocalcinosis10.0
41horner's syndrome10.0
42choroiditis10.0
43smooth muscle tumor10.0
44collagen disease10.0
45craniopharyngioma10.0
46gingivitis10.0
47hemorrhagic fever with renal syndrome10.0
48herpes simplex10.0
49periodontitis10.0
50retinal detachment10.0

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:

 47 (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 disorder 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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Drug clinical trials:

Search ClinicalTrials for Alport Syndrome

Search NIH Clinical Center for Alport Syndrome

Genetic Tests for Alport Syndrome

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Genetic tests related to Alport Syndrome:

id Genetic test Affiliating Genes
1 Alport Syndrome22

Anatomical Context for Alport Syndrome

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MalaCards organs/tissues related to Alport Syndrome:

31
Kidney, Eye, Skin, Colon, Testes, Smooth muscle, Lung, Uterus, Cervix, Bone, Brain

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 KidneyGlomerular Basement Membrane  Affected by disease

Animal Models for Alport Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Alport Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9MYH9, ACSL4, COL4A3, COL4A4
2MP:00053678.4COL4A1, COL4A5, COL4A4, COL4A3, MYH9
3MP:00053918.4VSX1, COL4A1, COL4A3, MYH9
4MP:00053857.8MYH9, ACSL4, COL4A3, COL4A5, COL4A3BP, COL4A1
5MP:00053767.4MYH9, ACSL4, COL4A3, COL4A4, COL4A5, COL4A3BP
6MP:00107687.4MYH9, ACSL4, COL4A3, COL4A4, COL4A5, COL4A3BP
7MP:00053787.4MYH9, ACSL4, COL4A3, COL4A4, COL4A3BP, COL4A1

Publications for Alport Syndrome

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Articles related to Alport Syndrome:

(show top 50)    (show all 483)
idTitleAuthorsYear
1
Delayed diagnosis of Alport syndrome without hematuria. (24878952)
2014
2
End-stage kidney disease due to Alport syndrome: outcomes in 296 consecutive Australia and New Zealand Dialysis and Transplant Registry cases. (25061124)
2014
3
COL4A4 gene study of a European population: description of new mutations causing autosomal dominant Alport syndrome. (25755845)
2014
4
Alport syndrome in a Kazakh family: a case study. (25572247)
2014
5
Clinical and genetic features in autosomal recessive and X-linked Alport syndrome. (24178893)
2013
6
Cyclosporin A may cause injury to undifferentiated glomeruli persisting in patients with Alport syndrome. (23828692)
2013
7
Clear lens phacoemulsification in Alport syndrome: refractive results and electron microscopic analysis of the anterior lens capsule. (24170525)
2013
8
An update on the pathomechanisms and future therapies of Alport syndrome. (22903660)
2013
9
The variable course of women with X-linked Alport Syndrome. (24286007)
2013
10
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
11
Alport syndrome: ACEIs delay RRT and increase lifespan in Alport syndrome. (22231132)
2012
12
Clinical utility gene card for: Alport syndrome. (22166944)
2012
13
Alport syndrome: significance of gingival biopsy in the initial diagnosis and periodontal evaluation after renal transplantation. (20027438)
2009
14
Molecular testing for adult type Alport syndrome. (19919694)
2009
15
A novel COL4A5 splicing mutation causing Alport syndrome in a Chinese family]. (19065523)
2008
16
Antigen retrieval with protease digestion applied in immunohistochemical diagnosis of Alport syndrome. (18524789)
2008
17
Is anterior lenticonus the most common ocular finding in Alport syndrome? (18165055)
2008
18
Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome. (17071739)
2007
19
Prenatal diagnosis and genetic counseling of X-linked Alport syndrome in China]. (17953801)
2007
20
Renal transplantation in patients with Alport syndrome. (16911486)
2006
21
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families. (16338941)
2006
22
Spectrum of clinical features and type IV collagen alpha-chain distribution in Chinese patients with Alport syndrome. (16940319)
2006
23
Gene expression analysis in a canine model of X-linked Alport syndrome. (16964446)
2006
24
Matrix metalloproteinase dysregulation in the stria vascularis of mice with Alport syndrome: implications for capillary basement membrane pathology. (15855646)
2005
25
Discordant phenotypic expression of Alport syndrome in monozygotic twins. (15524063)
2004
26
Mouse model of X-linked Alport syndrome. (15153557)
2004
27
Phenotypic and genotypic features of Alport syndrome in Chinese children. (12478350)
2002
28
Quantitative trait loci influence renal disease progression in a mouse model of Alport syndrome. (11839593)
2002
29
Bilateral macular holes: an unusual feature of alport syndrome. (12172121)
2002
30
A new point mutation in the COL4A5 gene described in a Spanish family with X-linked Alport syndrome. (11961405)
2002
31
Sporadic case of X-chromosomal Alport syndrome in a consanguineous family. (10955921)
2000
32
Insertional mutation of the collagen genes Col4a3 and Col4a4 in a mouse model of Alport syndrome. (10534397)
1999
33
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
34
Alport syndrome--is there a genotype-phenotype relationship? (9269624)
1997
35
Can Alport syndrome be treated by gene therapy? (9150464)
1997
36
Immunofluorescence study of type IV collagen alpha chains in epidermal basement membrane: application in diagnosis of X-linked Alport syndrome. (9594257)
1997
37
Recent advances in Alport syndrome: the cross-fertilisation between genetics and clinical medicine. (9351295)
1997
38
Alport syndrome: clinical and genetic correlation in a type-IV collagen disease. (9399052)
1997
39
Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult-onset X-linked Alport syndrome. (8829632)
1996
40
A mutation causing Alport syndrome with tardive hearing loss is common in the western United States. (8651292)
1996
41
Molecular and functional defects in kidneys of mice lacking collagen alpha 3(IV): implications for Alport syndrome. (8947561)
1996
42
Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome. (8599366)
1995
43
Autosomal recessive Alport syndrome: mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis. (7780062)
1995
44
Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients. (7599631)
1995
45
Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome. (8162029)
1994
46
De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome. (1363780)
1992
47
Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome. (1635357)
1992
48
Alport syndrome, basement membranes and collagen. (2242324)
1990
49
Genetic heterogeneity among kindreds with Alport syndrome. (3728466)
1986
50
Genetic heterogeneity of Alport syndrome. (4010153)
1985

Variations for Alport Syndrome

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

62 (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:

6 (show all 624)
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, 5-BP DELdeletionPathogenic
23COL4A3COL4A3, EX5, C-T, ARG-TERsingle nucleotide variantPathogenic
24COL4A3COL4A3, ALU INS, EX6insertionPathogenic
25COL4A3COL4A3, IVS21DS, G-A, -1single nucleotide variantPathogenic
26NM_000091.4(COL4A3): c.3499G> A (p.Gly1167Arg)single nucleotide variantPathogenicrs267606745GRCh37Chr 2, 228159760: 228159760
27COL4A5NM_033380.2(COL4A5): c.81+1G> C (p.?)single nucleotide variantPathogenicrs281874765GRCh37Chr X, 107683437: 107683437
28COL4A5NM_000495.4(COL4A5): c.1542_1543delAG (p.Glu516Lysfs)deletionPathogenicrs104886333GRCh37Chr X, 107840253: 107840254
29COL4A5NM_033380.2(COL4A5): c.(?_-1940)_(81_?)del (p.?)deletionPathogenic
30COL4A5NM_033380.2(COL4A5): c.(?_-129378)_(81_?)del (p.?)deletionPathogenic
31COL4A5NM_000495.3: c.1-?_81+?deldeletionPathogenic
32COL4A5NM_033380.2(COL4A5): c.(?_-1940)_(81_?)del (p.?)deletionPathogenic
33COL4A5NM_000495.3: c.1-?_81+?deldeletionPathogenic
34COL4A5NM_033380.2(COL4A5): c.(?_-1940)_(81_?)del (p.?)deletionPathogenic
35COL4A5NM_000495.4(COL4A5): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs104886050GRCh37Chr X, 107683356: 107683356
36COL4A5NP_203699.1: p.?deletionPathogenic
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
43COL4A5NM_000495.3: c.1-?_5058+?deldeletionPathogenic
44COL4A5NM_000495.4(COL4A5): c.2_3delTG (p.Met1Lysfs)deletionPathogenicrs104886376GRCh37Chr X, 107683357: 107683358
45COL4A5NM_000495.4(COL4A5): c.13G> T (p.Gly5Ter)single nucleotide variantPathogenicrs104886049GRCh37Chr X, 107683368: 107683368
46COL4A5NM_000495.4(COL4A5): c.41_42insTCTT (p.Leu14Phefs)insertionPathogenicrs104886408GRCh37Chr X, 107683396: 107683397
47COL4A5NM_000495.4(COL4A5): c.49_50delCT (p.Leu17Glufs)deletionPathogenicrs104886427GRCh37Chr X, 107683404: 107683405
48COL4A5NM_000495.4(COL4A5): c.65_77delAGCCTGCAGAGGC (p.Gln22Leufs)deletionPathogenicrs281874760GRCh37Chr X, 107683420: 107683432
49COL4A5NP_203699.1: p.Ala28_Lys1082dupduplicationPathogenic
50COL4A5NM_000495.3: c.82-?_465+?deldeletionPathogenic
51COL4A5NP_203699.1: p.?deletionPathogenicGRCh37Chr X, 107782976: 107829977
52COL4A5NP_203699.1: p.?deletionPathogenicGRCh37Chr X, 107782976: 107869579
53COL4A5NP_203699.1: p.?deletionPathogenicGRCh37Chr X, 107782976: 107898687
54COL4A5COL4A5: c.82_141del60 (p.Ala28_Lys47del)deletionPathogenicGRCh37Chr X, 107782976: 107783035
55COL4A5NM_000495.4(COL4A5): c.87C> A (p.Cys29Ter)single nucleotide variantPathogenicrs104886048GRCh37Chr X, 107782981: 107782981
56COL4A5NM_000495.4(COL4A5): c.90T> G (p.Tyr30Ter)single nucleotide variantPathogenicrs104886047GRCh37Chr X, 107782984: 107782984
57COL4A5NM_000495.4(COL4A5): c.119delG (p.Cys40Serfs)deletionPathogenicrs104886042GRCh37Chr X, 107783013: 107783013
58COL4A5NM_033380.2(COL4A5): c.142-1G> A (p.?)single nucleotide variantPathogenicrs104886323GRCh37Chr X, 107802293: 107802293
59COL4A5NP_203699.1: p.?deletionPathogenicGRCh37Chr X, 107802294: 107898687
60COL4A5NP_203699.1: p.?deletionPathogenicGRCh37Chr X, 107802294: 107863656
61COL4A5NM_000495.4(COL4A5): c.142G> A (p.Gly48Arg)single nucleotide variantPathogenicrs281874669GRCh37Chr X, 107802294: 107802294
62COL4A5NP_203699.1: p.Gly51fsinsertionPathogenic
63COL4A5COL4A5: c.142_231del90 (p.Gly48_Lys77del)deletionPathogenicGRCh37Chr X, 107802294: 107802383
64COL4A5NM_033380.2(COL4A5): c.231+1G> A (p.?)single nucleotide variantPathogenicrs104886349GRCh37Chr X, 107802384: 107802384
65COL4A5NM_033380.2(COL4A5): c.232-1G> T (p.?)single nucleotide variantPathogenicrs104886350GRCh37Chr X, 107807111: 107807111
66COL4A5NM_033380.2(COL4A5): c.232-1G> A (p.?)single nucleotide variantPathogenicrs104886350GRCh37Chr X, 107807111: 107807111
67COL4A5NP_203699.1: p.?deletionPathogenicGRCh37Chr X, 107807112: 107807112
68COL4A5NM_000495.3: c.232-?_780+?deldeletionPathogenicGRCh38Chr X, 108563881: 108578384
69COL4A5NP_203699.1: p.?deletionPathogenicGRCh37Chr X, 107807112: 107930924
70COL4A5NM_000495.4(COL4A5): c.250delG (p.Pro85Hisfs)deletionPathogenicrs104886044GRCh37Chr X, 107807130: 107807130
71COL4A5NM_033380.2(COL4A5): c.276+5G> A (p.?)single nucleotide variantPathogenicrs104886365GRCh37Chr X, 107807161: 107807161
72COL4A5NM_033380.2(COL4A5): c.277-1G> T (p.?)single nucleotide variantPathogenicrs104886367GRCh37Chr X, 107811858: 107811858
73COL4A5NM_000495.3: c.277-?_609+?deldeletionPathogenic
74COL4A5NM_000495.4(COL4A5): c.286G> A (p.Gly96Arg)single nucleotide variantPathogenicrs281874706GRCh37Chr X, 107811868: 107811868
75COL4A5NM_000495.4(COL4A5): c.293delC (p.Pro98Leufs)deletionPathogenicrs104886045GRCh37Chr X, 107811875: 107811875
76COL4A5NM_033380.2(COL4A5): c.322-1G> A (p.?)single nucleotide variantPathogenicrs104886375GRCh37Chr X, 107811988: 107811988
77COL4A5NM_000495.4(COL4A5): c.351_359delACCTCAAGG (p.Pro118_Gly120del)deletionPathogenicrs104886390GRCh37Chr X, 107812018: 107812026
78COL4A5NM_000495.4(COL4A5): c.368delG (p.Gly123Aspfs)deletionPathogenicrs104886046GRCh37Chr X, 107812035: 107812035
79COL4A5NM_033380.2(COL4A5): c.385-719G> A (p.?)single nucleotide variantPathogenicrs104886396GRCh37Chr X, 107813924: 107813924
80COL4A5NM_033380.2(COL4A5): c.385-1G> C (p.?)single nucleotide variantPathogenicrs104886395GRCh37Chr X, 107814642: 107814642
81COL4A5NM_000495.4(COL4A5): c.385G> A (p.Gly129Arg)single nucleotide variantPathogenicrs281874722GRCh37Chr X, 107814643: 107814643
82COL4A5NM_000495.4(COL4A5): c.386G> A (p.Gly129Glu)single nucleotide variantPathogenicrs281874723GRCh37Chr X, 107814644: 107814644
83COL4A5NM_000495.4(COL4A5): c.386G> T (p.Gly129Val)single nucleotide variantPathogenicrs281874723GRCh37Chr X, 107814644: 107814644
84COL4A5NM_000495.4(COL4A5): c.388G> T (p.Glu130Ter)single nucleotide variantPathogenicrs104886051GRCh37Chr X, 107814646: 107814646
85COL4A5NM_000495.4(COL4A5): c.430G> A (p.Gly144Ser)single nucleotide variantPathogenicrs104886052GRCh37Chr X, 107814688: 107814688
86COL4A5NM_000495.4(COL4A5): c.431G> A (p.Gly144Asp)single nucleotide variantPathogenicrs281874737GRCh37Chr X, 107814689: 107814689
87COL4A5NM_033380.2(COL4A5): c.438+5G> A (p.?)single nucleotide variantPathogenicrs281874739GRCh37Chr X, 107814701: 107814701
88COL4A5NM_000495.4(COL4A5): c.440delG (p.Gly147Aspfs)deletionPathogenicrs104886053GRCh37Chr X, 107815042: 107815042
89COL4A5NM_000495.4(COL4A5): c.442dupC (p.Gly150Trpfs)duplicationPathogenicrs104886419GRCh37Chr X, 107815043: 107815044
90COL4A5NM_000495.4(COL4A5): c.446delC (p.Pro149Leufs)deletionPathogenicrs104886054GRCh37Chr X, 107815048: 107815048
91COL4A5NM_033380.2(COL4A5): c.466-17T> G (p.?)single nucleotide variantPathogenicrs104886415GRCh37Chr X, 107816787: 107816787
92COL4A5NM_033380.2(COL4A5): c.466-12G> A (p.?)single nucleotide variantPathogenicrs104886414GRCh37Chr X, 107816792: 107816792
93COL4A5NM_033380.2(COL4A5): c.466-2A> G (p.?)single nucleotide variantPathogenicrs104886416GRCh37Chr X, 107816802: 107816802
94COL4A5NM_000495.4(COL4A5): c.520G> C (p.Gly174Arg)single nucleotide variantPathogenicrs104886055GRCh37Chr X, 107816858: 107816858
95COL4A5NM_000495.4(COL4A5): c.529G> T (p.Gly177Cys)single nucleotide variantPathogenicrs104886056GRCh37Chr X, 107816867: 107816867
96COL4A5NM_000495.4(COL4A5): c.529G> C (p.Gly177Arg)single nucleotide variantPathogenicrs104886056GRCh37Chr X, 107816867: 107816867
97COL4A5NM_000495.4(COL4A5): c.533delC (p.Pro178Leufs)deletionPathogenicrs104886058GRCh37Chr X, 107816871: 107816871
98COL4A5NM_000495.4(COL4A5): c.538G> A (p.Gly180Arg)single nucleotide variantPathogenicrs281874755GRCh37Chr X, 107816876: 107816876
99COL4A5NP_203699.1: p.?deletionPathogenic
100COL4A5NM_033380.2(COL4A5): c.546+1G> A (p.?)single nucleotide variantPathogenicrs104886429GRCh37Chr X, 107816885: 107816885
101COL4A5NM_033380.2(COL4A5): c.546+3_546+4insT (p.?)insertionPathogenicrs104886430GRCh37Chr X, 107816887: 107816888
102COL4A5NM_033380.2(COL4A5): c.547-2A> G (p.?)single nucleotide variantPathogenicrs281874756GRCh37Chr X, 107819138: 107819138
103COL4A5NM_033380.2(COL4A5): c.547-1G> A (p.?)single nucleotide variantPathogenicrs104886431GRCh37Chr X, 107819139: 107819139
104COL4A5NM_000495.4(COL4A5): c.547dupG (p.Leu184Profs)duplicationPathogenicrs104886432GRCh37Chr X, 107819140: 107819141
105COL4A5NM_000495.4(COL4A5): c.548G> T (p.Gly183Val)single nucleotide variantPathogenicrs104886059GRCh37Chr X, 107819141: 107819141
106COL4A5NM_000495.4(COL4A5): c.550dupC (p.Leu184Profs)duplicationPathogenicrs104886433GRCh37Chr X, 107819143: 107819144
107COL4A5NM_000495.4(COL4A5): c.574G> A (p.Gly192Arg)single nucleotide variantPathogenicrs104886060GRCh37Chr X, 107819167: 107819167
108COL4A5NM_000495.4(COL4A5): c.584G> A (p.Gly195Asp)single nucleotide variantPathogenicrs104886061GRCh37Chr X, 107819177: 107819177
109COL4A5NM_000495.4(COL4A5): c.593G> A (p.Gly198Glu)single nucleotide variantPathogenicrs104886057GRCh37Chr X, 107819186: 107819186
110COL4A5NM_000495.4(COL4A5): c.602G> T (p.Gly201Val)single nucleotide variantPathogenicrs104886062GRCh37Chr X, 107819195: 107819195
111COL4A5NM_033380.2(COL4A5): c.609+1G> A (p.?)single nucleotide variantPathogenicrs104886434GRCh37Chr X, 107819203: 107819203
112COL4A5NP_203699.1: p.?single nucleotide variantPathogenic
113COL4A5NM_033380.2(COL4A5): c.610-2A> G (p.?)single nucleotide variantPathogenicrs281874758GRCh37Chr X, 107821180: 107821180
114COL4A5NM_000495.4(COL4A5): c.610_628del19 (p.Gly204Aspfs)deletionPathogenicrs104886435GRCh37Chr X, 107821182: 107821200
115COL4A5NM_000495.4(COL4A5): c.611G> A (p.Gly204Asp)single nucleotide variantPathogenicrs104886063GRCh37Chr X, 107821183: 107821183
116COL4A5NM_000495.4(COL4A5): c.611G> T (p.Gly204Val)single nucleotide variantPathogenicrs104886063GRCh37Chr X, 107821183: 107821183
117COL4A5NM_000495.4(COL4A5): c.611_612delGC (p.Gly204Alafs)deletionPathogenicrs281874759GRCh37Chr X, 107821183: 107821184
118COL4A5NM_000495.4(COL4A5): c.634delC (p.Pro212Glnfs)deletionPathogenicrs104886065GRCh37Chr X, 107821206: 107821206
119COL4A5NM_000495.4(COL4A5): c.638G> A (p.Gly213Glu)single nucleotide variantPathogenicrs104886066GRCh37Chr X, 107821210: 107821210
120COL4A5NM_000495.4: c.646-12_646-11delTTdeletionPathogenicrs104886436GRCh37Chr X, 107821296: 107821297
121COL4A5NM_033380.2(COL4A5): c.646-3C> A (p.?)single nucleotide variantPathogenicrs104886437GRCh37Chr X, 107821305: 107821305
122COL4A5NM_000495.4(COL4A5): c.646G> A (p.Gly216Arg)single nucleotide variantPathogenicrs104886067GRCh37Chr X, 107821308: 107821308
123COL4A5NM_000495.4(COL4A5): c.647G> T (p.Gly216Val)single nucleotide variantPathogenicrs104886074GRCh37Chr X, 107821309: 107821309
124COL4A5NM_000495.4(COL4A5): c.647_648dupGG (p.Asn217Glyfs)duplicationPathogenicrs104886438GRCh37Chr X, 107821310: 107821311
125COL4A5NM_000495.4(COL4A5): c.648dupG (p.Asn217Glufs)duplicationPathogenicrs104886438GRCh37Chr X, 107821310: 107821311
126COL4A5NM_000495.4(COL4A5): c.655G> A (p.Gly219Ser)single nucleotide variantPathogenicrs104886075GRCh37Chr X, 107821317: 107821317
127COL4A5NM_033380.2(COL4A5): c.687+1G> A (p.?)single nucleotide variantPathogenicrs104886440GRCh37Chr X, 107821350: 107821350
128COL4A5NM_033380.2(COL4A5): c.688-3C> G (p.?)single nucleotide variantPathogenicrs104886441GRCh37Chr X, 107821518: 107821518
129COL4A5NM_000495.4(COL4A5): c.688G> C (p.Gly230Arg)single nucleotide variantPathogenicrs104886076GRCh37Chr X, 107821521: 107821521
130COL4A5NM_000495.4(COL4A5): c.689delG (p.Gly230Valfs)deletionPathogenicrs104886077GRCh37Chr X, 107821522: 107821522
131COL4A5NM_000495.4(COL4A5): c.689G> A (p.Gly230Asp)single nucleotide variantPathogenicrs281874763GRCh37Chr X, 107821522: 107821522
132COL4A5NM_000495.4(COL4A5): c.716G> A (p.Gly239Glu)single nucleotide variantPathogenicrs104886068GRCh37Chr X, 107821549: 107821549
133COL4A5NM_000495.4(COL4A5): c.761_762delAG (p.Glu254Valfs)deletionPathogenicrs104886443GRCh37Chr X, 107821594: 107821595
134COL4A5NM_033380.2(COL4A5): c.780+2T> G (p.?)single nucleotide variantPathogenicrs104886444GRCh37Chr X, 107821615: 107821615
135COL4A5NM_033380.2(COL4A5): c.781-1del7 (p.?)deletionPathogenicrs397515491GRCh37Chr X, 107823762: 107823762
136COL4A5NP_203699.1: p.?deletionPathogenic
137COL4A5NM_000495.3: c.781-?_1423+?deldeletionPathogenic
138COL4A5NM_000495.4(COL4A5): c.790G> C (p.Gly264Arg)single nucleotide variantPathogenicrs104886069GRCh37Chr X, 107823772: 107823772
139COL4A5NM_000495.4(COL4A5): c.791G> A (p.Gly264Asp)single nucleotide variantPathogenicrs104886070GRCh37Chr X, 107823773: 107823773
140COL4A5NM_000495.4(COL4A5): c.796C> T (p.Arg266Ter)single nucleotide variantPathogenicrs104886071GRCh37Chr X, 107823778: 107823778
141COL4A5NM_000495.4(COL4A5): c.812delC (p.Pro271Leufs)deletionPathogenicrs104886072GRCh37Chr X, 107823794: 107823794
142COL4A5NM_033380.2(COL4A5): c.834+1G> A (p.?)single nucleotide variantPathogenicrs104886446GRCh37Chr X, 107823817: 107823817
143COL4A5NM_033380.2(COL4A5): c.834+5G> T (p.?)single nucleotide variantPathogenicrs104886442GRCh37Chr X, 107823821: 107823821
144COL4A5NM_000495.4(COL4A5): c.859G> T (p.Glu287Ter)single nucleotide variantPathogenicrs104886447GRCh37Chr X, 107823936: 107823936
145COL4A5NM_000495.4(COL4A5): c.866G> T (p.Gly289Val)single nucleotide variantPathogenicrs104886450GRCh37Chr X, 107823943: 107823943
146COL4A5NM_000495.4(COL4A5): c.866delG (p.Gly289Valfs)deletionPathogenicrs281874766GRCh37Chr X, 107823943: 107823943
147COL4A5NM_000495.4(COL4A5): c.873delA (p.Gly292Glufs)deletionPathogenicrs281874767GRCh37Chr X, 107823950: 107823950
148COL4A5NM_000495.4(COL4A5): c.874G> C (p.Gly292Arg)single nucleotide variantPathogenicrs104886073GRCh37Chr X, 107823951: 107823951
149COL4A5NM_000495.4(COL4A5): c.875G> T (p.Gly292Val)single nucleotide variantPathogenicrs104886078GRCh37Chr X, 107823952: 107823952
150COL4A5NM_000495.4(COL4A5): c.875delG (p.Gly292Glufs)deletionPathogenicrs281874768GRCh37Chr X, 107823952: 107823952
151COL4A5NM_000495.4(COL4A5): c.884G> A (p.Gly295Asp)single nucleotide variantPathogenicrs104886079GRCh37Chr X, 107823961: 107823961
152COL4A5NM_033380.2(COL4A5): c.891+1G> A (p.?)single nucleotide variantPathogenicrs104886451GRCh37Chr X, 107823969: 107823969
153COL4A5NM_033380.2(COL4A5): c.892-2A> G (p.?)single nucleotide variantPathogenicrs104886453GRCh37Chr X, 107824211: 107824211
154COL4A5NM_033380.2(COL4A5): c.892-1G> C (p.?)single nucleotide variantPathogenicrs104886452GRCh37Chr X, 107824212: 107824212
155COL4A5NM_000495.4(COL4A5): c.892G> A (p.Gly298Ser)single nucleotide variantPathogenicrs104886080GRCh37Chr X, 107824213: 107824213
156COL4A5NM_000495.4(COL4A5): c.913G> T (p.Glu305Ter)single nucleotide variantPathogenicrs104886081GRCh37Chr X, 107824234: 107824234
157COL4A5NM_000495.4(COL4A5): c.920G> A (p.Gly307Asp)single nucleotide variantPathogenicrs104886082GRCh37Chr X, 107824241: 107824241
158COL4A5NM_000495.4(COL4A5): c.928G> A (p.Gly310Arg)single nucleotide variantPathogenicrs104886083GRCh37Chr X, 107824249: 107824249
159COL4A5NM_033380.2(COL4A5): c.937-1G> A (p.?)single nucleotide variantPathogenicrs104886448GRCh37Chr X, 107826113: 107826113
160COL4A5NM_000495.4(COL4A5): c.937-?_990+?del (p.Gly313_Lys330del)deletionPathogenicGRCh37Chr X, 107826114: 107826167
161COL4A5NM_000495.4(COL4A5): c.937G> A (p.Gly313Ser)single nucleotide variantPathogenicrs104886084GRCh37Chr X, 107826114: 107826114
162COL4A5NM_000495.4(COL4A5): c.945dupT (p.Gly316Trpfs)duplicationPathogenicrs104886449GRCh37Chr X, 107826122: 107826123
163COL4A5NM_000495.4(COL4A5): c.955G> C (p.Gly319Arg)single nucleotide variantPathogenicrs104886085GRCh37Chr X, 107826132: 107826132
164COL4A5NM_000495.4(COL4A5): c.956G> A (p.Gly319Asp)single nucleotide variantPathogenicrs104886086GRCh37Chr X, 107826133: 107826133
165COL4A5NM_000495.4(COL4A5): c.960C> A (p.Tyr320Ter)single nucleotide variantPathogenicrs281874769GRCh37Chr X, 107826137: 107826137
166COL4A5NM_000495.4(COL4A5): c.973G> A (p.Gly325Arg)single nucleotide variantPathogenicrs104886088GRCh37Chr X, 107826150: 107826150
167COL4A5NM_000495.4(COL4A5): c.973G> T (p.Gly325Ter)single nucleotide variantPathogenicrs104886088GRCh37Chr X, 107826150: 107826150
168COL4A5NM_000495.4(COL4A5): c.992G> T (p.Gly331Val)single nucleotide variantPathogenicrs104886092GRCh37Chr X, 107827715: 107827715
169COL4A5NM_000495.4(COL4A5): c.1001G> T (p.Gly334Val)single nucleotide variantPathogenicrs104886093GRCh37Chr X, 107827724: 107827724
170COL4A5NM_033380.2(COL4A5): c.1032+3_1032+6delAAGT (p.?)deletionPathogenicrs104886314GRCh37Chr X, 107827758: 107827761
171COL4A5NM_033380.2(COL4A5): c.1032+5G> T (p.?)single nucleotide variantPathogenicrs104886315GRCh37Chr X, 107827760: 107827760
172COL4A5NM_000495.3: c.1033-?_1516+?deldeletionPathogenic
173COL4A5NM_000495.4(COL4A5): c.1060dupA (p.Thr354Asnfs)duplicationPathogenicrs281874655GRCh37Chr X, 107829872: 107829873
174COL4A5NM_000495.4(COL4A5): c.1062dupT (p.Ile355Tyrfs)duplicationPathogenicrs104886316GRCh37Chr X, 107829874: 107829875
175COL4A5NM_000495.4(COL4A5): c.1074delA (p.Gly359Glufs)deletionPathogenicrs104886095GRCh37Chr X, 107829886: 107829886
176COL4A5NM_000495.4(COL4A5): c.1084G> A (p.Gly362Arg)single nucleotide variantPathogenicrs281874656GRCh37Chr X, 107829896: 107829896
177COL4A5NM_000495.4(COL4A5): c.1094G> A (p.Gly365Glu)single nucleotide variantPathogenicrs104886096GRCh37Chr X, 107829906: 107829906
178COL4A5NM_000495.4(COL4A5): c.1112G> A (p.Gly371Glu)single nucleotide variantPathogenicrs104886097GRCh37Chr X, 107829924: 107829924
179COL4A5NM_000495.4(COL4A5): c.1117C> T (p.Arg373Ter)single nucleotide variantPathogenicrs104886094GRCh37Chr X, 107829929: 107829929
180COL4A5NM_000495.4(COL4A5): c.1121G> C (p.Gly374Ala)single nucleotide variantPathogenicrs104886108GRCh37Chr X, 107829933: 107829933
181COL4A5NM_000495.4(COL4A5): c.1139G> A (p.Gly380Asp)single nucleotide variantPathogenicrs104886098GRCh37Chr X, 107829951: 107829951
182COL4A5NM_000495.4(COL4A5): c.1148G> A (p.Gly383Asp)single nucleotide variantPathogenicrs104886105GRCh37Chr X, 107829960: 107829960
183COL4A5NM_033380.2(COL4A5): c.1165+1G> A (p.?)single nucleotide variantPathogenicrs104886317GRCh37Chr X, 107829978: 107829978
184COL4A5NM_033380.2(COL4A5): c.1165+2T> G (p.?)single nucleotide variantPathogenicrs104886324GRCh37Chr X, 107829979: 107829979
185COL4A5NM_000495.3: c.1166-?_1423+?deldeletionPathogenicGRCh37Chr X, 107834288: 107834874
186COL4A5NM_000495.3: c.1166-?_1516+?deldeletionPathogenic
187COL4A5NM_000495.3: c.1166-?_2041+?deldeletionPathogenic
188COL4A5NM_000495.4(COL4A5): c.1181delG (p.Gly394Valfs)deletionPathogenicrs281874658GRCh37Chr X, 107834303: 107834303
189COL4A5NM_000495.4(COL4A5): c.1199G> A (p.Gly400Glu)single nucleotide variantPathogenicrs104886107GRCh37Chr X, 107834321: 107834321
190COL4A5NM_000495.4(COL4A5): c.1208G> T (p.Gly403Val)single nucleotide variantPathogenicrs104886099GRCh37Chr X, 107834330: 107834330
191COL4A5NM_000495.4(COL4A5): c.1213dupA (p.Arg405Lysfs)duplicationPathogenicrs281874659GRCh37Chr X, 107834335: 107834336
192COL4A5NM_000495.4(COL4A5): c.1214_1215insA (p.Gln407Serfs)insertionPathogenicrs104886325GRCh37Chr X, 107834336: 107834337
193COL4A5NP_203699.1: p.Gly406fsinsertionPathogenic
194COL4A5NM_000495.4(COL4A5): c.1217G> T (p.Gly406Val)single nucleotide variantPathogenicrs104886100GRCh37Chr X, 107834339: 107834339
195COL4A5NM_000495.4(COL4A5): c.1219C> T (p.Gln407Ter)single nucleotide variantPathogenicrs281874661GRCh37Chr X, 107834341: 107834341
196COL4A5NM_000495.4(COL4A5): c.1222A> T (p.Lys408Ter)single nucleotide variantPathogenicrs281874662GRCh37Chr X, 107834344: 107834344
197COL4A5NM_000495.4(COL4A5): c.1226G> A (p.Gly409Asp)single nucleotide variantPathogenicrs104886101GRCh37Chr X, 107834348: 107834348
198COL4A5NM_000495.4(COL4A5): c.1235G> T (p.Gly412Val)single nucleotide variantPathogenicrs104886102GRCh37Chr X, 107834357: 107834357
199COL4A5NM_000495.4(COL4A5): c.1243G> A (p.Gly415Arg)single nucleotide variantPathogenicrs104886103GRCh37Chr X, 107834365: 107834365
200COL4A5NM_000495.4(COL4A5): c.1254delT (p.Pro419Leufs)deletionPathogenicrs104886104GRCh37Chr X, 107834376: 107834376
201COL4A5NM_000495.4(COL4A5): c.1259G> A (p.Gly420Glu)single nucleotide variantPathogenicrs281874663GRCh37Chr X, 107834381: 107834381
202COL4A5NM_000495.4(COL4A5): c.1265delC (p.Pro422Leufs)deletionPathogenicrs104886109GRCh37Chr X, 107834387: 107834387
203COL4A5NM_000495.4(COL4A5): c.1268G> A (p.Gly423Glu)single nucleotide variantPathogenicrs104886110GRCh37Chr X, 107834390: 107834390
204COL4A5NM_000495.4(COL4A5): c.1276G> A (p.Gly426Arg)single nucleotide variantPathogenicrs104886111GRCh37Chr X, 107834398: 107834398
205COL4A5NM_000495.4(COL4A5): c.1280dupA (p.Pro428Alafs)duplicationPathogenicrs104886327GRCh37Chr X, 107834402: 107834403
206COL4A5NM_000495.4(COL4A5): c.1286G> A (p.Gly429Glu)single nucleotide variantPathogenicrs104886112GRCh37Chr X, 107834408: 107834408
207COL4A5NP_203699.1: p.Ala430fsduplicationPathogenic
208COL4A5NM_000495.4(COL4A5): c.1294G> A (p.Gly432Arg)single nucleotide variantPathogenicrs281874664GRCh37Chr X, 107834416: 107834416
209COL4A5NM_033380.2(COL4A5): c.1340-2A> G (p.?)single nucleotide variantPathogenicrs104886319GRCh37Chr X, 107834789: 107834789
210COL4A5NM_000495.4(COL4A5): c.1350_1351delAT (p.Ile450Metfs)deletionPathogenicrs104886320GRCh37Chr X, 107834801: 107834802
211COL4A5p.Pro456_Pro458deldeletionPathogenic
212COL4A5NM_000495.4(COL4A5): c.1366_1374delCCAGGCCCC (p.Pro458_Gly460del)deletionPathogenicrs104886321GRCh37Chr X, 107834817: 107834825
213COL4A5NM_000495.4(COL4A5): c.1371_1379delCCCCCCAGG (p.Pro458_Gly460del)deletionPathogenicrs281874665GRCh37Chr X, 107834822: 107834830
214COL4A5NM_000495.4(COL4A5): c.1376delC (p.Pro459Glnfs)deletionPathogenicrs104886113GRCh37Chr X, 107834827: 107834827
215COL4A5NM_000495.4(COL4A5): c.1376dupC (p.Gly460Argfs)duplicationPathogenicrs281874666GRCh37Chr X, 107834827: 107834828
216COL4A5NM_000495.4(COL4A5): c.1397G> A (p.Gly466Glu)single nucleotide variantPathogenicrs104886114GRCh37Chr X, 107834848: 107834848
217COL4A5NM_000495.4(COL4A5): c.1406G> A (p.Gly469Glu)single nucleotide variantPathogenicrs104886115GRCh37Chr X, 107834857: 107834857
218COL4A5NM_000495.4(COL4A5): c.1414G> A (p.Gly472Arg)single nucleotide variantPathogenicrs104886116GRCh37Chr X, 107834865: 107834865
219COL4A5NM_000495.4(COL4A5): c.1423G> A (p.Gly475Ser)single nucleotide variantPathogenicrs281874667GRCh37Chr X, 107834874: 107834874
220COL4A5NM_033380.2(COL4A5): c.1423+1G> A (p.?)single nucleotide variantPathogenicrs104886312GRCh37Chr X, 107834875: 107834875
221COL4A5NP_203699.1: p.?insertionPathogenic
222COL4A5NM_033380.2(COL4A5): c.1424-20T> A (p.?)single nucleotide variantPathogenicrs281874668GRCh37Chr X, 107838719: 107838719
223COL4A5NM_033380.2: c.1424-1G> Asingle nucleotide variantPathogenicrs104886329GRCh37Chr X, 107838738: 107838738
224COL4A5NP_203699.1: p.?deletionPathogenic
225COL4A5NM_000495.4(COL4A5): c.1472G> A (p.Gly491Glu)single nucleotide variantPathogenicrs104886117GRCh37Chr X, 107838787: 107838787
226COL4A5NM_000495.4(COL4A5): c.1481G> A (p.Gly494Asp)single nucleotide variantPathogenicrs104886118GRCh37Chr X, 107838796: 107838796
227COL4A5p.Gln495_Gly506deldeletionPathogenic
228COL4A5NM_000495.4(COL4A5): c.1489G> T (p.Gly497Cys)single nucleotide variantPathogenicrs104886120GRCh37Chr X, 107838804: 107838804
229COL4A5NM_000495.4(COL4A5): c.1498G> C (p.Gly500Arg)single nucleotide variantPathogenicrs281874670GRCh37Chr X, 107838813: 107838813
230COL4A5NM_033380.2(COL4A5): c.1516+1G> A (p.?)single nucleotide variantPathogenicrs104886331GRCh37Chr X, 107838832: 107838832
231COL4A5NM_033380.2(COL4A5): c.1517-1G> T (p.?)single nucleotide variantPathogenicrs104886332GRCh37Chr X, 107840227: 107840227
232COL4A5NM_000495.4(COL4A5): c.1562G> A (p.Gly521Asp)single nucleotide variantPathogenicrs104886122GRCh37Chr X, 107840273: 107840273
233COL4A5NM_000495.4(COL4A5): c.1566delA (p.Thr523Leufs)deletionPathogenicrs104886123GRCh37Chr X, 107840277: 107840277
234COL4A5NM_000495.4(COL4A5): c.1571G> A (p.Gly524Asp)single nucleotide variantPathogenicrs104886119GRCh37Chr X, 107840282: 107840282
235COL4A5NP_203699.1: p.Leu528fsdeletionPathogenicGRCh37Chr X, 107840292: 107840615
236COL4A5NM_033380.2(COL4A5): c.1587+1delG (p.?)deletionPathogenicrs104886124GRCh37Chr X, 107840299: 107840299
237COL4A5NM_033380.2(COL4A5): c.1587+1G> A (p.?)single nucleotide variantPathogenicrs104886313GRCh37Chr X, 107840299: 107840299
238COL4A5NM_000495.4(COL4A5): c.1598G> A (p.Gly533Glu)single nucleotide variantPathogenicrs281874672GRCh37Chr X, 107840617: 107840617
239COL4A5NM_000495.4(COL4A5): c.1607G> A (p.Gly536Asp)single nucleotide variantPathogenicrs104886125GRCh37Chr X, 107840626: 107840626
240COL4A5NM_000495.4(COL4A5): c.1633G> C (p.Gly545Arg)single nucleotide variantPathogenicrs104886126GRCh37Chr X, 107840652: 107840652
241COL4A5NM_000495.4(COL4A5): c.1634G> T (p.Gly545Val)single nucleotide variantPathogenicrs104886127GRCh37Chr X, 107840653: 107840653
242COL4A5NM_000495.4(COL4A5): c.1643G> A (p.Gly548Asp)single nucleotide variantPathogenicrs281874673GRCh37Chr X, 107840662: 107840662
243COL4A5NM_000495.4(COL4A5): c.1653delC (p.Thr552Leufs)deletionPathogenicrs104886128GRCh37Chr X, 107840672: 107840672
244COL4A5NM_000495.4(COL4A5): c.1672G> C (p.Gly558Arg)single nucleotide variantPathogenicrs104886129GRCh37Chr X, 107840691: 107840691
245COL4A5NM_000495.4(COL4A5): c.1681G> A (p.Gly561Arg)single nucleotide variantPathogenicrs104886136GRCh37Chr X, 107840700: 107840700
246COL4A5NM_000495.4(COL4A5): c.1690G> T (p.Gly564Cys)single nucleotide variantPathogenicrs281874674GRCh37Chr X, 107840709: 107840709
247COL4A5NM_000495.4(COL4A5): c.1700G> C (p.Gly567Ala)single nucleotide variantPathogenicrs104886137GRCh37Chr X, 107840719: 107840719
248COL4A5NM_000495.4(COL4A5): c.1718G> A (p.Gly573Asp)single nucleotide variantPathogenicrs104886138GRCh37Chr X, 107840737: 107840737
249COL4A5NM_000495.4(COL4A5): c.1726G> A (p.Gly576Ser)single nucleotide variantPathogenicrs281874675GRCh37Chr X, 107840745: 107840745
250COL4A5NM_000495.4(COL4A5): c.1735G> A (p.Gly579Arg)single nucleotide variantPathogenicrs104886139GRCh37Chr X, 107840754: 107840754
251COL4A5NM_000495.4(COL4A5): c.1736G> A (p.Gly579Glu)single nucleotide variantPathogenicrs104886130GRCh37Chr X, 107840755: 107840755
252COL4A5NM_000495.4(COL4A5): c.1738C> T (p.Gln580Ter)single nucleotide variantPathogenicrs281874676GRCh37Chr X, 107840757: 107840757
253COL4A5NM_000495.3: c.1739_1948+98deldeletionPathogenicrs104886336GRCh37Chr X, 107840758: 107842198
254COL4A5NM_000495.4(COL4A5): c.1757_1770delTTCCTGGCCCGAAA (p.Leu586Argfs)deletionPathogenicrs281874678GRCh37Chr X, 107840776: 107840789
255COL4A5NM_033380.2(COL4A5): c.1779+1G> T (p.?)single nucleotide variantPathogenicrs104886337GRCh37Chr X, 107840799: 107840799
256COL4A5NM_033380.2(COL4A5): c.1779+3G> C (p.?)single nucleotide variantPathogenicrs281874679GRCh37Chr X, 107840801: 107840801
257COL4A5NM_033380.2(COL4A5): c.1780-1G> A (p.?)single nucleotide variantPathogenicrs104886338GRCh37Chr X, 107841931: 107841931
258COL4A5NM_000495.4(COL4A5): c.1780G> A (p.Gly594Ser)single nucleotide variantPathogenicrs104886131GRCh37Chr X, 107841932: 107841932
259COL4A5NM_000495.4(COL4A5): c.1783G> A (p.Gly595Arg)single nucleotide variantPathogenicrs104886132GRCh37Chr X, 107841935: 107841935
260COL4A5NM_000495.4(COL4A5): c.1808G> T (p.Gly603Val)single nucleotide variantPathogenicrs104886133GRCh37Chr X, 107841960: 107841960
261COL4A5NM_000495.4(COL4A5): c.1825G> C (p.Gly609Arg)single nucleotide variantPathogenicrs104886135GRCh37Chr X, 107841977: 107841977
262COL4A5NM_000495.4(COL4A5): c.1826G> T (p.Gly609Val)single nucleotide variantPathogenicrs104886140GRCh37Chr X, 107841978: 107841978
263COL4A5NM_000495.4(COL4A5): c.1856C> T (p.Pro619Leu)single nucleotide variantPathogenicrs281874681GRCh37Chr X, 107842008: 107842008
264COL4A5NM_000495.4(COL4A5): c.1861G> T (p.Gly621Cys)single nucleotide variantPathogenicrs104886141GRCh37Chr X, 107842013: 107842013
265COL4A5NM_000495.4(COL4A5): c.1871G> A (p.Gly624Asp)single nucleotide variantPathogenicrs104886142GRCh37Chr X, 107842023: 107842023
266COL4A5NM_000495.4(COL4A5): c.1877G> C (p.Gly626Ala)single nucleotide variantPathogenicrs104886143GRCh37Chr X, 107842029: 107842029
267COL4A5NM_000495.4(COL4A5): c.1886G> A (p.Gly629Asp)single nucleotide variantPathogenicrs104886144GRCh37Chr X, 107842038: 107842038
268COL4A5NM_000495.4(COL4A5): c.1895G> A (p.Gly632Asp)single nucleotide variantPathogenicrs104886145GRCh37Chr X, 107842047: 107842047
269COL4A5NM_000495.4(COL4A5): c.1897G> A (p.Glu633Lys)single nucleotide variantPathogenicrs104886146GRCh37Chr X, 107842049: 107842049
270COL4A5NM_000495.4(COL4A5): c.1904G> A (p.Gly635Asp)single nucleotide variantPathogenicrs281874683GRCh37Chr X, 107842056: 107842056
271COL4A5NM_000495.4(COL4A5): c.1912G> A (p.Gly638Ser)single nucleotide variantPathogenicrs104886147GRCh37Chr X, 107842064: 107842064
272COL4A5NM_000495.4(COL4A5): c.1913G> C (p.Gly638Ala)single nucleotide variantPathogenicrs104886134GRCh37Chr X, 107842065: 107842065
273COL4A5NM_000495.4(COL4A5): c.1913G> T (p.Gly638Val)single nucleotide variantPathogenicrs104886134GRCh37Chr X, 107842065: 107842065
274COL4A5NM_033380.2(COL4A5): c.1948+1G> A (p.?)single nucleotide variantPathogenicrs104886339GRCh37Chr X, 107842101: 107842101
275COL4A5NP_203699.1: p.?deletionPathogenicGRCh37Chr X, 107844623: 107898687
276COL4A5NM_000495.4(COL4A5): c.1957G> A (p.Gly653Arg)single nucleotide variantPathogenicrs104886150GRCh37Chr X, 107844631: 107844631
277COL4A5NM_000495.4(COL4A5): c.1960delG (p.Asp654Ilefs)deletionPathogenicrs104886152GRCh37Chr X, 107844634: 107844634
278COL4A5NM_000495.4(COL4A5): c.1997G> A (p.Gly666Asp)single nucleotide variantPathogenicrs104886153GRCh37Chr X, 107844671: 107844671
279COL4A5NM_000495.4(COL4A5): c.2005G> C (p.Gly669Arg)single nucleotide variantPathogenicrs281874684GRCh37Chr X, 107844679: 107844679
280COL4A5NM_000495.4(COL4A5): c.2006G> C (p.Gly669Ala)single nucleotide variantPathogenicrs104886151GRCh37Chr X, 107844680: 107844680
281COL4A5NM_000495.4(COL4A5): c.2018delG (p.Arg673Lysfs)deletionPathogenicrs104886156GRCh37Chr X, 107844692: 107844692
282COL4A5NM_000495.4(COL4A5): c.2023G> A (p.Gly675Ser)single nucleotide variantPathogenicrs104886157GRCh37Chr X, 107844697: 107844697
283COL4A5NM_033380.2(COL4A5): c.2041+1G> T (p.?)single nucleotide variantPathogenicrs104886340GRCh37Chr X, 107844716: 107844716
284COL4A5NM_033380.2(COL4A5): c.2042-18A> G (p.?)single nucleotide variantPathogenicrs104886341GRCh37Chr X, 107845097: 107845097
285COL4A5NM_000495.4(COL4A5): c.2042G> A (p.Gly681Asp)single nucleotide variantPathogenicrs104886158GRCh37Chr X, 107845115: 107845115
286COL4A5NM_000495.4(COL4A5): c.2050G> T (p.Gly684Ter)single nucleotide variantPathogenicrs104886159GRCh37Chr X, 107845123: 107845123
287COL4A5NM_000495.4(COL4A5): c.2051G> T (p.Gly684Val)single nucleotide variantPathogenicrs104886160GRCh37Chr X, 107845124: 107845124
288COL4A5NM_000495.4(COL4A5): c.2057delC (p.Pro686Glnfs)deletionPathogenicrs104886167GRCh37Chr X, 107845130: 107845130
289COL4A5NM_000495.4(COL4A5): c.2060G> A (p.Gly687Glu)single nucleotide variantPathogenicrs104886168GRCh37Chr X, 107845133: 107845133
290COL4A5NM_000495.4(COL4A5): c.2062_2114dup53 (p.Ile706Asnfs)duplicationPathogenicrs104886342GRCh37Chr X, 107845187: 107845188
291COL4A5NM_000495.4(COL4A5): c.2098G> T (p.Glu700Ter)single nucleotide variantPathogenicrs104886169GRCh37Chr X, 107845171: 107845171
292COL4A5NM_000495.4(COL4A5): c.2146G> C (p.Gly716Arg)single nucleotide variantPathogenicrs104886161GRCh37Chr X, 107845219: 107845219
293COL4A5NM_033380.2(COL4A5): c.2146+3A> C (p.?)single nucleotide variantPathogenicrs104886343GRCh37Chr X, 107845222: 107845222
294COL4A5NM_033380.2(COL4A5): c.2147-3C> G (p.?)single nucleotide variantPathogenicrs104886345GRCh37Chr X, 107846191: 107846191
295COL4A5NM_033380.2(COL4A5): c.2147-2A> G (p.?)single nucleotide variantPathogenicrs104886344GRCh37Chr X, 107846192: 107846192
296COL4A5NM_000495.4(COL4A5): c.2147delG (p.Gly716Alafs)deletionPathogenicrs104886162GRCh37Chr X, 107846194: 107846194
297COL4A5NP_203699.1: p.?duplicationPathogenicGRCh37Chr X, 107846194: 107865122
298COL4A5NM_000495.4(COL4A5): c.2155G> C (p.Gly719Arg)single nucleotide variantPathogenicrs281874686GRCh37Chr X, 107846202: 107846202
299COL4A5NM_000495.4(COL4A5): c.2165G> A (p.Gly722Glu)single nucleotide variantPathogenicrs104886163GRCh37Chr X, 107846212: 107846212
300COL4A5NM_000495.4(COL4A5): c.2206_2226del21 (p.Glu736_Pro742del)deletionPathogenicrs104886346GRCh37Chr X, 107846253: 107846273
301COL4A5NM_000495.4(COL4A5): c.2215C> T (p.Pro739Ser)single nucleotide variantPathogenicrs104886164GRCh37Chr X, 107846262: 107846262
302COL4A5NM_000495.4(COL4A5): c.2219G> A (p.Gly740Glu)single nucleotide variantPathogenicrs104886165GRCh37Chr X, 107846266: 107846266
303COL4A5NM_000495.4(COL4A5): c.2228G> A (p.Gly743Asp)single nucleotide variantPathogenicrs104886166GRCh37Chr X, 107846275: 107846275
304COL4A5NM_033380.2(COL4A5): c.2244+1G> T (p.?)single nucleotide variantPathogenicrs281874688GRCh37Chr X, 107846292: 107846292
305COL4A5NM_033380.2(COL4A5): c.2244+2T> G (p.?)single nucleotide variantPathogenicrs104886347GRCh37Chr X, 107846293: 107846293
306COL4A5NM_033380.2(COL4A5): c.2245-1G> A (p.?)single nucleotide variantPathogenicrs104886348GRCh37Chr X, 107849971: 107849971
307COL4A5NM_000495.4(COL4A5): c.2287G> A (p.Gly763Arg)single nucleotide variantPathogenicrs104886171GRCh37Chr X, 107850014: 107850014
308COL4A5NM_000495.4(COL4A5): c.2288G> A (p.Gly763Glu)single nucleotide variantPathogenicrs281874689GRCh37Chr X, 107850015: 107850015
309COL4A5NM_000495.4(COL4A5): c.2297G> A (p.Gly766Asp)single nucleotide variantPathogenicrs104886172GRCh37Chr X, 107850024: 107850024
310COL4A5NM_000495.4(COL4A5): c.2305G> A (p.Gly769Arg)single nucleotide variantPathogenicrs281874690GRCh37Chr X, 107850032: 107850032
311COL4A5NM_000495.4(COL4A5): c.2315G> A (p.Gly772Asp)single nucleotide variantPathogenicrs104886173GRCh37Chr X, 107850042: 107850042
312COL4A5NM_000495.4(COL4A5): c.2315G> C (p.Gly772Ala)single nucleotide variantPathogenicrs104886173GRCh37Chr X, 107850042: 107850042
313COL4A5NM_000495.4(COL4A5): c.2322dupA (p.Gly775Argfs)duplicationPathogenicrs104886351GRCh37Chr X, 107850049: 107850050
314COL4A5NM_000495.4(COL4A5): c.2332G> A (p.Gly778Ser)single nucleotide variantPathogenicrs104886174GRCh37Chr X, 107850059: 107850059
315COL4A5NM_000495.4(COL4A5): c.2348delC (p.Pro783Argfs)deletionPathogenicrs104886175GRCh37Chr X, 107850075: 107850075
316COL4A5NM_000495.4(COL4A5): c.2360G> T (p.Gly787Val)single nucleotide variantPathogenicrs104886176GRCh37Chr X, 107850087: 107850087
317COL4A5NM_000495.4(COL4A5): c.2386G> A (p.Gly796Arg)single nucleotide variantPathogenicrs104886177GRCh37Chr X, 107850113: 107850113
318COL4A5NM_000495.4(COL4A5): c.2394A> G (p.Lys798=)single nucleotide variantPathogenicrs281874691GRCh37Chr X, 107850121: 107850121
319COL4A5NM_033380.2(COL4A5): c.2395+2delT (p.?)deletionPathogenicrs104886178GRCh37Chr X, 107850124: 107850124
320COL4A5NP_203699.1: p.?single nucleotide variantPathogenic
321COL4A5p.Gly802_Pro807deldeletionPathogenic
322COL4A5NM_000495.4(COL4A5): c.2404G> A (p.Gly802Arg)single nucleotide variantPathogenicrs104886179GRCh37Chr X, 107858149: 107858149
323COL4A5NM_000495.4(COL4A5): c.2423G> A (p.Gly808Glu)single nucleotide variantPathogenicrs104886180GRCh37Chr X, 107858168: 107858168
324COL4A5NM_000495.4(COL4A5): c.2431G> A (p.Gly811Arg)single nucleotide variantPathogenicrs104886182GRCh37Chr X, 107858176: 107858176
325COL4A5NM_000495.4(COL4A5): c.2432G> T (p.Gly811Val)single nucleotide variantPathogenicrs104886183GRCh37Chr X, 107858177: 107858177
326COL4A5NP_203699.1: p.Ile818fsindelPathogenic
327COL4A5NM_000495.4(COL4A5): c.2464_2472delGGACCACCA (p.Pro826_Gly828del)deletionPathogenicrs104886356GRCh37Chr X, 107858209: 107858217
328COL4A5NM_000495.4(COL4A5): c.2464G> C (p.Gly822Arg)single nucleotide variantPathogenicrs104886184GRCh37Chr X, 107858209: 107858209
329COL4A5NM_000495.4(COL4A5): c.2473G> T (p.Gly825Ter)single nucleotide variantPathogenicrs281874692GRCh37Chr X, 107858218: 107858218
330COL4A5NM_000495.4(COL4A5): c.2475_2483delACCACCAGG (p.Pro826_Gly828del)deletionPathogenicrs281874693GRCh37Chr X, 107858220: 107858228
331COL4A5NM_000495.4(COL4A5): c.2476delC (p.Pro826Hisfs)deletionPathogenicrs281874694GRCh37Chr X, 107858221: 107858221
332COL4A5NM_000495.4(COL4A5): c.2500G> C (p.Gly834Arg)single nucleotide variantPathogenicrs281874696GRCh37Chr X, 107858245: 107858245
333COL4A5NM_033380.2(COL4A5): c.2509G> A (p.?)single nucleotide variantPathogenicrs104886185GRCh37Chr X, 107858254: 107858254
334COL4A5NM_033380.2(COL4A5): c.2510-33A> G (p.?)single nucleotide variantPathogenicrs104886358GRCh37Chr X, 107863456: 107863456
335COL4A5NM_000495.4(COL4A5): c.2510delG (p.Gly837Valfs)deletionPathogenicrs104886181GRCh37Chr X, 107863489: 107863489
336COL4A5COL4A5: c.2510-?_2677+?del (p.Gly837_Gly893delinsGly)deletionPathogenicGRCh37Chr X, 107863489: 107863656
337COL4A5NM_000495.4(COL4A5): c.2550_2573del24 (p.Leu853_Gly860del)deletionPathogenicrs104886359GRCh37Chr X, 107863529: 107863552
338COL4A5NM_000495.4(COL4A5): c.2554G> A (p.Gly852Arg)single nucleotide variantPathogenicrs104886186GRCh37Chr X, 107863533: 107863533
339COL4A5NM_000495.4(COL4A5): c.2555G> A (p.Gly852Glu)single nucleotide variantPathogenicrs104886187GRCh37Chr X, 107863534: 107863534
340COL4A5NM_000495.4(COL4A5): c.2578G> C (p.Gly860Arg)single nucleotide variantPathogenicrs281874697GRCh37Chr X, 107863557: 107863557
341COL4A5p.Ser864_Gly875deldeletionPathogenic
342COL4A5NM_000495.4(COL4A5): c.2595_2612del18 (p.Ile867_Gly872del)deletionPathogenicrs104886355GRCh37Chr X, 107863574: 107863591
343COL4A5NM_000495.4(COL4A5): c.2597G> A (p.Gly866Glu)single nucleotide variantPathogenicrs104886188GRCh37Chr X, 107863576: 107863576
344COL4A5NM_000495.4(COL4A5): c.2643delG (p.Leu882Phefs)deletionPathogenicrs104886200GRCh37Chr X, 107863622: 107863622
345COL4A5NM_000495.4(COL4A5): c.2605G> A (p.Gly869Arg)single nucleotide variantPathogenicrs104886189GRCh37Chr X, 107863584: 107863584
346COL4A5NM_000495.4(COL4A5): c.2614G> C (p.Gly872Arg)single nucleotide variantPathogenicrs104886190GRCh37Chr X, 107863593: 107863593
347COL4A5NM_000495.4(COL4A5): c.2624G> A (p.Gly875Glu)single nucleotide variantPathogenicrs104886191GRCh37Chr X, 107863603: 107863603
348COL4A5NM_000495.4(COL4A5): c.2625delA (p.Pro876Leufs)deletionPathogenicrs104886198GRCh37Chr X, 107863604: 107863604
349COL4A5NM_000495.4(COL4A5): c.2633G> T (p.Gly878Val)single nucleotide variantPathogenicrs104886199GRCh37Chr X, 107863612: 107863612
350COL4A5NM_000495.4(COL4A5): c.2659G> C (p.Gly887Arg)single nucleotide variantPathogenicrs281874699GRCh37Chr X, 107863638: 107863638
351COL4A5NM_000495.4(COL4A5): c.2660G> T (p.Gly887Val)single nucleotide variantPathogenicrs104886201GRCh37Chr X, 107863639: 107863639
352COL4A5NM_033380.2: c.2678-10T> Gsingle nucleotide variantPathogenicrs104886360GRCh37Chr X, 107865023: 107865023
353COL4A5NM_000495.3: c.2678-?_3246+?deldeletionPathogenic
354COL4A5NM_000495.4(COL4A5): c.2686delG (p.Gly896Valfs)deletionPathogenicrs281874700GRCh37Chr X, 107865041: 107865041
355COL4A5NM_000495.4(COL4A5): c.2692A> G (p.Met898Val)single nucleotide variantPathogenicrs104886192GRCh37Chr X, 107865047: 107865047
356COL4A5NM_000495.4(COL4A5): c.2705G> A (p.Gly902Glu)single nucleotide variantPathogenicrs104886361GRCh37Chr X, 107865060: 107865060
357COL4A5NM_000495.4(COL4A5): c.2708dupC (p.Pro904Serfs)duplicationPathogenicrs104886362GRCh37Chr X, 107865063: 107865064
358COL4A5NM_000495.4(COL4A5): c.2722G> A (p.Gly908Arg)single nucleotide variantPathogenicrs281874703GRCh37Chr X, 107865077: 107865077
359COL4A5NM_000495.4(COL4A5): c.2731G> A (p.Gly911Arg)single nucleotide variantPathogenicrs281874704GRCh37Chr X, 107865086: 107865086
360COL4A5NM_000495.4(COL4A5): c.2732G> A (p.Gly911Glu)single nucleotide variantPathogenicrs104886363GRCh37Chr X, 107865087: 107865087
361COL4A5NP_203699.1: p.Ser916fsindelPathogenic
362COL4A5NM_000495.4(COL4A5): c.2746A> G (p.Ser916Gly)single nucleotide variantPathogenicrs104886193GRCh37Chr X, 107865101: 107865101
363COL4A5NM_033380.2(COL4A5): c.2767+2delT (p.?)deletionPathogenicrs104886366GRCh37Chr X, 107865124: 107865124
364COL4A5NM_000495.4(COL4A5): c.2782C> T (p.Gln928Ter)single nucleotide variantPathogenicrs281874705GRCh37Chr X, 107865920: 107865920
365COL4A5NM_000495.4(COL4A5): c.2788C> T (p.Gln930Ter)single nucleotide variantPathogenicrs104886194GRCh37Chr X, 107865926: 107865926
366COL4A5NM_000495.4(COL4A5): c.2802dupT (p.Gly935Trpfs)duplicationPathogenicrs104886368GRCh37Chr X, 107865940: 107865941
367COL4A5NM_000495.4(COL4A5): c.2804G> A (p.Gly935Asp)single nucleotide variantPathogenicrs104886195GRCh37Chr X, 107865942: 107865942
368COL4A5NM_000495.4(COL4A5): c.2821G> T (p.Gly941Cys)single nucleotide variantPathogenicrs104886196GRCh37Chr X, 107865959: 107865959
369COL4A5NM_000495.4(COL4A5): c.2823_2825delTAG (p.Ser942del)deletionPathogenicrs104886369GRCh37Chr X, 107865961: 107865963
370COL4A5NM_000495.4(COL4A5): c.2840G> A (p.Gly947Asp)single nucleotide variantPathogenicrs104886370GRCh37Chr X, 107865978: 107865978
371COL4A5NM_000495.4(COL4A5): c.2846delC (p.Pro949Glnfs)deletionPathogenicrs104886197GRCh37Chr X, 107865984: 107865984
372COL4A5NM_000495.4(COL4A5): c.2858G> T (p.Gly953Val)single nucleotide variantPathogenicrs78972735GRCh37Chr X, 107865996: 107865996
373COL4A5NM_033380.2(COL4A5): c.2917+1G> C (p.?)single nucleotide variantPathogenicrs104886371GRCh37Chr X, 107866056: 107866056
374COL4A5NM_033380.2(COL4A5): c.2917+1G> T (p.?)single nucleotide variantPathogenicrs104886371GRCh37Chr X, 107866056: 107866056
375COL4A5NM_033380.2(COL4A5): c.2918-1G> T (p.?)single nucleotide variantPathogenicrs104886372GRCh37Chr X, 107867465: 107867465
376COL4A5NM_000495.4(COL4A5): c.2940delA (p.Gly982Valfs)deletionPathogenicrs281874707GRCh37Chr X, 107867488: 107867488
377COL4A5NP_203699.1: p.Val977fsdeletionPathogenic
378COL4A5NM_000495.4(COL4A5): c.2943delA (p.Gly982Valfs)deletionPathogenicrs104886204GRCh37Chr X, 107867491: 107867491
379COL4A5NM_000495.4(COL4A5): c.2959_2976del18 (p.Asp989_Gly994del)deletionPathogenicrs104886374GRCh37Chr X, 107867507: 107867524
380COL4A5NM_000495.4(COL4A5): c.2965delG (p.Asp989Thrfs)deletionPathogenicrs104886206GRCh37Chr X, 107867513: 107867513
381COL4A5NM_033380.2(COL4A5): c.3016+1G> T (p.?)single nucleotide variantPathogenicrs104886377GRCh37Chr X, 107867565: 107867565
382COL4A5NM_033380.2(COL4A5): c.3017-1G> A (p.?)single nucleotide variantPathogenicrs104886378GRCh37Chr X, 107868934: 107868934
383COL4A5NM_000495.4(COL4A5): c.3017G> T (p.Gly1006Val)single nucleotide variantPathogenicrs104886202GRCh37Chr X, 107868935: 107868935
384COL4A5NM_000495.4(COL4A5): c.3044G> T (p.Gly1015Val)single nucleotide variantPathogenicrs104886211GRCh37Chr X, 107868962: 107868962
385COL4A5NM_000495.4(COL4A5): c.3046C> T (p.Gln1016Ter)single nucleotide variantPathogenicrs104886207GRCh37Chr X, 107868964: 107868964
386COL4A5NM_000495.4(COL4A5): c.3057delT (p.Ile1020Terfs)deletionPathogenicrs104886208GRCh37Chr X, 107868975: 107868975
387COL4A5NM_000495.4(COL4A5): c.3080G> T (p.Gly1027Val)single nucleotide variantPathogenicrs104886209GRCh37Chr X, 107868998: 107868998
388COL4A5NM_000495.4(COL4A5): c.3088G> A (p.Gly1030Ser)single nucleotide variantPathogenicrs104886210GRCh37Chr X, 107869006: 107869006
389COL4A5NP_203699.1: p.?deletionPathogenic
390COL4A5NM_033380.2(COL4A5): c.3107-2A> G (p.?)single nucleotide variantPathogenicrs104886379GRCh37Chr X, 107869438: 107869438
391COL4A5NM_000495.4(COL4A5): c.3107G> T (p.Gly1036Val)single nucleotide variantPathogenicrs104886212GRCh37Chr X, 107869440: 107869440
392COL4A5NM_000495.4(COL4A5): c.3115G> A (p.Gly1039Ser)single nucleotide variantPathogenicrs104886214GRCh37Chr X, 107869448: 107869448
393COL4A5NM_000495.4(COL4A5): c.3134G> A (p.Gly1045Glu)single nucleotide variantPathogenicrs104886215GRCh37Chr X, 107869467: 107869467
394COL4A5NM_000495.4(COL4A5): c.3167delC (p.Pro1056Glnfs)deletionPathogenicrs281874711GRCh37Chr X, 107869500: 107869500
395COL4A5NM_000495.4(COL4A5): c.3169G> T (p.Gly1057Ter)single nucleotide variantPathogenicrs104886216GRCh37Chr X, 107869502: 107869502
396COL4A5NM_000495.4(COL4A5): c.3178G> T (p.Gly1060Ter)single nucleotide variantPathogenicrs104886217GRCh37Chr X, 107869511: 107869511
397COL4A5NM_000495.4(COL4A5): c.3181C> T (p.Gln1061Ter)single nucleotide variantPathogenicrs104886213GRCh37Chr X, 107869514: 107869514
398COL4A5NM_000495.4(COL4A5): c.3188G> T (p.Gly1063Val)single nucleotide variantPathogenicrs104886218GRCh37Chr X, 107869521: 107869521
399COL4A5NM_000495.4(COL4A5): c.3196G> C (p.Gly1066Arg)single nucleotide variantPathogenicrs104886219GRCh37Chr X, 107869529: 107869529
400COL4A5NM_000495.4(COL4A5): c.3196G> A (p.Gly1066Ser)single nucleotide variantPathogenicrs104886219GRCh37Chr X, 107869529: 107869529
401COL4A5NM_000495.4(COL4A5): c.3197G> C (p.Gly1066Ala)single nucleotide variantPathogenicrs104886221GRCh37Chr X, 107869530: 107869530
402COL4A5NM_000495.4(COL4A5): c.3206G> T (p.Gly1069Val)single nucleotide variantPathogenicrs281874712GRCh37Chr X, 107869539: 107869539
403COL4A5NM_000495.4(COL4A5): c.3212C> G (p.Ser1071Ter)single nucleotide variantPathogenicrs104886222GRCh37Chr X, 107869545: 107869545
404COL4A5NM_000495.4(COL4A5): c.3247G> A (p.Gly1083Ser)single nucleotide variantPathogenicrs104886223GRCh37Chr X, 107898561: 107898561
405COL4A5NM_033380.2(COL4A5): c.3247-?_3373+?del (p.Gly(?_1083)_Gly(1083_?)Glufs)deletionPathogenicGRCh37Chr X, 107898561: 107898687
406COL4A5NM_000495.4: c.3247-?_5058+?deldeletionPathogenic
407COL4A5NM_033380.2(COL4A5): c.3247-?_3373+?del (p.?)deletionPathogenicGRCh37Chr X, 107898561: 107898687
408COL4A5NM_000495.4(COL4A5): c.3256G> C (p.Gly1086Arg)single nucleotide variantPathogenicrs104886231GRCh37Chr X, 107898570: 107898570
409COL4A5NM_000495.4(COL4A5): c.3257G> A (p.Gly1086Asp)single nucleotide variantPathogenicrs104886232GRCh37Chr X, 107898571: 107898571
410COL4A5NM_000495.4(COL4A5): c.3289A> T (p.Lys1097Ter)single nucleotide variantPathogenicrs104886233GRCh37Chr X, 107898603: 107898603
411COL4A5NM_000495.4(COL4A5): c.3311G> T (p.Gly1104Val)single nucleotide variantPathogenicrs104886224GRCh37Chr X, 107898625: 107898625
412COL4A5NM_000495.4(COL4A5): c.3319G> A (p.Gly1107Arg)single nucleotide variantPathogenicrs104886225GRCh37Chr X, 107898633: 107898633
413COL4A5NM_000495.4(COL4A5): c.3326_3327insT (p.Gly1110Argfs)insertionPathogenicrs397515492GRCh37Chr X, 107898640: 107898641
414COL4A5NM_000495.4(COL4A5): c.3331delA (p.Thr1111Profs)deletionPathogenicrs104886226GRCh37Chr X, 107898645: 107898645
415COL4A5NM_000495.4(COL4A5): c.3337_3338insCCTG (p.Gly1113Alafs)insertionPathogenicrs104886380GRCh37Chr X, 107898651: 107898652
416COL4A5NM_000495.4(COL4A5): c.3347G> T (p.Gly1116Val)single nucleotide variantPathogenicrs281874713GRCh37Chr X, 107898661: 107898661
417COL4A5NM_033380.2(COL4A5): c.3373+1G> A (p.?)single nucleotide variantPathogenicrs281874714GRCh37Chr X, 107898688: 107898688
418COL4A5NM_033380.2(COL4A5): c.3374-11C> A (p.?)single nucleotide variantPathogenicrs104886387GRCh37Chr X, 107908726: 107908726
419COL4A5NM_000495.4: c.3374-?_3790+?deldeletionPathogenicGRCh37Chr X, 107898688: 107913457
420COL4A5NM_000495.3: c.3374-?_5058+?deldeletionPathogenic
421COL4A5NP_203699.1: p.?duplicationPathogenic
422COL4A5NM_033380.2(COL4A5): c.3403_3418del16ins3 (p.Ile1135fs)indelPathogenicGRCh37Chr X, 107908766: 107908781
423COL4A5NM_000495.4(COL4A5): c.3413delC (p.Pro1138Leufs)deletionPathogenicrs104886227GRCh37Chr X, 107908776: 107908776
424COL4A5NM_000495.4(COL4A5): c.3427G> A (p.Gly1143Ser)single nucleotide variantPathogenicrs104886228GRCh37Chr X, 107908790: 107908790
425COL4A5NM_033380.2(COL4A5): c.3454+1G> T (p.?)single nucleotide variantPathogenicrs281874715GRCh37Chr X, 107908818: 107908818
426COL4A5NM_033380.2(COL4A5): c.3455-9A> G (p.?)single nucleotide variantPathogenicrs104886388GRCh37Chr X, 107909717: 107909717
427COL4A5NM_000495.4(COL4A5): c.3472G> T (p.Gly1158Trp)single nucleotide variantPathogenicrs104886389GRCh38Chr X, 108666513: 108666513
428COL4A5NM_000495.4(COL4A5): c.3474delG (p.Gln1159Asnfs)deletionPathogenicrs104886234GRCh37Chr X, 107909745: 107909745
429COL4A5NM_000495.4(COL4A5): c.3481G> A (p.Gly1161Arg)single nucleotide variantPathogenicrs104886235GRCh37Chr X, 107909752: 107909752
430COL4A5NM_000495.4(COL4A5): c.3499G> A (p.Gly1167Ser)single nucleotide variantPathogenicrs104886236GRCh37Chr X, 107909770: 107909770
431COL4A5NM_000495.4(COL4A5): c.3508G> A (p.Gly1170Ser)single nucleotide variantPathogenicrs104886237GRCh37Chr X, 107909779: 107909779
432COL4A5NM_000495.4(COL4A5): c.3509delG (p.Gly1170Valfs)deletionPathogenicrs104886238GRCh37Chr X, 107909780: 107909780
433COL4A5NM_000495.4(COL4A5): c.3527delG (p.Gly1176Aspfs)deletionPathogenicrs104886239GRCh37Chr X, 107909798: 107909798
434COL4A5NM_000495.4(COL4A5): c.3535G> A (p.Gly1179Arg)single nucleotide variantPathogenicrs104886240GRCh37Chr X, 107909806: 107909806
435COL4A5NM_000495.4(COL4A5): c.3538C> T (p.Gln1180Ter)single nucleotide variantPathogenicrs104886241GRCh37Chr X, 107909809: 107909809
436COL4A5NM_000495.4(COL4A5): c.3543_3549delGGGTGAA (p.Lys1181Asnfs)deletionPathogenicrs281874716GRCh37Chr X, 107909814: 107909820
437COL4A5NM_000495.4(COL4A5): c.3544G> C (p.Gly1182Arg)single nucleotide variantPathogenicrs104886242GRCh37Chr X, 107909815: 107909815
438COL4A5NM_033380.2(COL4A5): c.3554-9C> G (p.?)single nucleotide variantPathogenicrs104886383GRCh37Chr X, 107910354: 107910354
439COL4A5NM_033380.2(COL4A5): c.3554-3C> G (p.?)single nucleotide variantPathogenicrs104886382GRCh37Chr X, 107910360: 107910360
440COL4A5NM_033380.2(COL4A5): c.3554-1G> A (p.?)single nucleotide variantPathogenicrs104886381GRCh37Chr X, 107910362: 107910362
441COL4A5COL4A5: c.3554_3604del51 (p.Gly1185_Gly1202delinsGly)deletionPathogenicGRCh37Chr X, 107910363: 107910413
442COL4A5NM_000495.4(COL4A5): c.3586G> A (p.Gly1196Arg)single nucleotide variantPathogenicrs104886244GRCh37Chr X, 107910395: 107910395
443COL4A5NM_000495.4(COL4A5): c.3587G> A (p.Gly1196Glu)single nucleotide variantPathogenicrs281874717GRCh37Chr X, 107910396: 107910396
444COL4A5NP_203699.1: p.?single nucleotide variantPathogenic
445COL4A5NP_203699.1: p.?single nucleotide variantPathogenic
446COL4A5NM_033380.2(COL4A5): c.3605-2A> G (p.?)single nucleotide variantPathogenicrs104886385GRCh37Chr X, 107911547: 107911547
447COL4A5NM_033380.2(COL4A5): c.3605-1G> A (p.?)single nucleotide variantPathogenicrs104886384GRCh37Chr X, 107911548: 107911548
448COL4A5NM_000495.3: c.3605-?_5058+?deldeletionPathogenic
449COL4A5NM_000495.4(COL4A5): c.3613G> T (p.Gly1205Cys)single nucleotide variantPathogenicrs104886245GRCh37Chr X, 107911557: 107911557
450COL4A5NM_000495.4(COL4A5): c.3613G> A (p.Gly1205Ser)single nucleotide variantPathogenicrs104886245GRCh37Chr X, 107911557: 107911557
451COL4A5NP_203699.1: p.Asp1206fsdeletionPathogenic
452COL4A5NM_000495.4(COL4A5): c.3631G> C (p.Gly1211Arg)single nucleotide variantPathogenicrs104886246GRCh37Chr X, 107911575: 107911575
453COL4A5NM_000495.4(COL4A5): c.3632G> A (p.Gly1211Glu)single nucleotide variantPathogenicrs104886247GRCh37Chr X, 107911576: 107911576
454COL4A5NM_000495.4(COL4A5): c.3641G> A (p.Gly1214Glu)single nucleotide variantPathogenicrs104886248GRCh37Chr X, 107911585: 107911585
455COL4A5NM_000495.4(COL4A5): c.3647delC (p.Pro1216Leufs)deletionPathogenicrs104886249GRCh37Chr X, 107911591: 107911591
456COL4A5NM_000495.4(COL4A5): c.3657_3728del72 (p.Lys1222_Pro1245del)deletionPathogenicrs104886391GRCh37Chr X, 107911601: 107911672
457COL4A5NM_000495.4(COL4A5): c.3659G> A (p.Gly1220Asp)single nucleotide variantPathogenicrs104886251GRCh37Chr X, 107911603: 107911603
458COL4A5NM_000495.4(COL4A5): c.3668G> T (p.Gly1223Val)single nucleotide variantPathogenicrs104886252GRCh37Chr X, 107911612: 107911612
459COL4A5NM_000495.4(COL4A5): c.3686G> A (p.Gly1229Asp)single nucleotide variantPathogenicrs104886253GRCh37Chr X, 107911630: 107911630
460COL4A5NM_000495.4(COL4A5): c.3692delC (p.Pro1231Leufs)deletionPathogenicrs104886254GRCh37Chr X, 107911636: 107911636
461COL4A5NM_000495.4(COL4A5): c.3692dupC (p.Gly1232Trpfs)duplicationPathogenicrs281874718GRCh37Chr X, 107911636: 107911637
462COL4A5NM_000495.4(COL4A5): c.3694G> A (p.Gly1232Ser)single nucleotide variantPathogenicrs104886250GRCh37Chr X, 107911638: 107911638
463COL4A5NM_000495.4(COL4A5): c.3700C> T (p.Gln1234Ter)single nucleotide variantPathogenicrs281874719GRCh37Chr X, 107911644: 107911644
464COL4A5NM_000495.4(COL4A5): c.3706_3722del17insT (p.Pro1236Phefs)indelPathogenicrs281874720GRCh37Chr X, 107911650: 107911666
465COL4A5NM_000495.4(COL4A5): c.3710_3761del52 (p.Pro1237Leufs)deletionPathogenicrs104886393GRCh37Chr X, 107911654: 107911705
466COL4A5NM_000495.4(COL4A5): c.3710_3711insCC (p.Gly1238Glnfs)insertionPathogenicrs104886392GRCh37Chr X, 107911654: 107911655
467COL4A5NM_000495.4(COL4A5): c.3721G> T (p.Gly1241Cys)single nucleotide variantPathogenicrs104886255GRCh37Chr X, 107911665: 107911665
468COL4A5NM_000495.4(COL4A5): c.3722G> T (p.Gly1241Val)single nucleotide variantPathogenicrs281874721GRCh37Chr X, 107911666: 107911666
469COL4A5NM_000495.4(COL4A5): c.3731G> A (p.Gly1244Asp)single nucleotide variantPathogenicrs104886261GRCh37Chr X, 107911675: 107911675
470COL4A5NM_000495.4(COL4A5): c.3754G> A (p.Gly1252Ser)single nucleotide variantPathogenicrs104886262GRCh37Chr X, 107911698: 107911698
471COL4A5NM_000495.4(COL4A5): c.3757_3758insGGCA (p.Asn1253Argfs)insertionPathogenicrs104886394GRCh37Chr X, 107911701: 107911702
472COL4A5NM_000495.4(COL4A5): c.3763G> A (p.Gly1255Arg)single nucleotide variantPathogenicrs104886263GRCh37Chr X, 107911707: 107911707
473COL4A5NM_000495.4(COL4A5): c.3782G> A (p.Gly1261Glu)single nucleotide variantPathogenicrs104886264GRCh37Chr X, 107911726: 107911726
474COL4A5NM_033380.2(COL4A5): c.3790+1delG (p.?)deletionPathogenicrs104886256GRCh37Chr X, 107911735: 107911735
475COL4A5COL4A5: c.3791_3924del134 (p.Gly1264_Gln1308delinsGlyfs)deletionPathogenicGRCh37Chr X, 107920730: 107920863
476COL4A5NM_000495.4(COL4A5): c.3808G> A (p.Gly1270Ser)single nucleotide variantPathogenicrs104886257GRCh37Chr X, 107920747: 107920747
477COL4A5NM_000495.4(COL4A5): c.3814delC (p.Pro1272Glnfs)deletionPathogenicrs104886258GRCh37Chr X, 107920753: 107920753
478COL4A5NM_000495.4(COL4A5): c.3869_3870insAACC (p.Gly1291Thrfs)insertionPathogenicrs104886398GRCh37Chr X, 107920789: 107920791
479COL4A5NM_000495.4(COL4A5): c.3920delT (p.Leu1307Profs)deletionPathogenicrs104886259GRCh37Chr X, 107920859: 107920859
480COL4A5NM_000495.4(COL4A5): c.3924G> C (p.Gln1308His)single nucleotide variantPathogenicrs281874724GRCh37Chr X, 107920863: 107920863
481COL4A5NM_033380.2(COL4A5): c.3942+1G> C (p.?)single nucleotide variantPathogenicrs483352870GRCh37Chr X, 107920864: 107920864
482COL4A5NM_033380.2(COL4A5): c.3943-2A> G (p.?)single nucleotide variantPathogenicrs104886399GRCh37Chr X, 107920844: 107920844
483COL4A5NM_033380.2(COL4A5): c.3943-1G> A (p.?)single nucleotide variantPathogenicrs281874725GRCh37Chr X, 107923908: 107923908
484COL4A5NM_000495.3: c.3925-?_4069+?deldeletionPathogenicGRCh37Chr X, 107923909: 107924186
485COL4A5NM_000495.4(COL4A5): c.3958A> T (p.Lys1320Ter)single nucleotide variantPathogenicrs104886260GRCh37Chr X, 107923942: 107923942
486COL4A5NM_000495.4(COL4A5): c.3992delT (p.Phe1331Serfs)deletionPathogenicrs104886265GRCh37Chr X, 107923976: 107923976
487COL4A5NM_000495.4(COL4A5): c.3997G> A (p.Gly1333Ser)single nucleotide variantPathogenicrs104886266GRCh37Chr X, 107923981: 107923981
488COL4A5NM_033380.2(COL4A5): c.4016-2A> T (p.?)single nucleotide variantPathogenicrs104886397GRCh37Chr X, 107924113: 107924113
489COL4A5NM_033380.2(COL4A5): c.4016-2A> G (p.?)single nucleotide variantPathogenicrs104886397GRCh37Chr X, 107924113: 107924113
490COL4A5NM_000495.4(COL4A5): c.4006G> T (p.Gly1336Ter)single nucleotide variantPathogenicGRCh37Chr X, 107924123: 107924123
491COL4A5p.Pro1350_Gly1351del,p.Gly1348GludeletionPathogenic
492COL4A5NM_000495.4(COL4A5): c.4069G> A (p.Gly1357Ser)single nucleotide variantPathogenicrs104886267GRCh37Chr X, 107924186: 107924186
493COL4A5NM_033380.2(COL4A5): c.4087+1G> A (p.?)single nucleotide variantPathogenicrs104886402GRCh37Chr X, 107924169: 107924169
494COL4A5NP_203699.1: p.?deletionPathogenic
495COL4A5NM_000495.4(COL4A5): c.4071delT (p.Pro1358Leufs)deletionPathogenicrs104886268GRCh37Chr X, 107924991: 107924991
496COL4A5NM_000495.4(COL4A5): c.4102_4103delAG (p.Ser1368Tyrfs)deletionPathogenicrs104886403GRCh37Chr X, 107925022: 107925023
497COL4A5NM_000495.4(COL4A5): c.4136G> T (p.Gly1379Val)single nucleotide variantPathogenicrs104886269GRCh37Chr X, 107925056: 107925056
498COL4A5NM_000495.4(COL4A5): c.4147C> T (p.Gln1383Ter)single nucleotide variantPathogenicrs281874727GRCh37Chr X, 107925067: 107925067
499COL4A5NM_000495.4(COL4A5): c.4161_4162insTCCT (p.Gly1388Serfs)insertionPathogenicrs104886404GRCh37Chr X, 107925063: 107925064
500COL4A5NM_000495.4(COL4A5): c.4171G> T (p.Gly1391Ter)single nucleotide variantPathogenicrs281874728GRCh37Chr X, 107925091: 107925091
501COL4A5NM_000495.4(COL4A5): c.4175delC (p.Gln1393Lysfs)deletionPathogenicrs281874729GRCh37Chr X, 107925095: 107925095
502COL4A5NM_000495.4(COL4A5): c.4177C> T (p.Gln1393Ter)single nucleotide variantPathogenicrs104886405GRCh37Chr X, 107925097: 107925097
503COL4A5NM_000495.4(COL4A5): c.4177delC (p.Gln1393Lysfs)deletionPathogenicrs281874730GRCh37Chr X, 107925097: 107925097
504COL4A5NM_000495.4(COL4A5): c.4196dupC (p.Gly1400Argfs)duplicationPathogenicrs104886409GRCh37Chr X, 107925116: 107925117
505COL4A5NM_033380.2(COL4A5): c.4217-1G> A (p.?)single nucleotide variantPathogenicrs104886407GRCh37Chr X, 107925100: 107925100
506COL4A5NP_203699.1: p.?deletionPathogenic
507COL4A5NM_000495.4(COL4A5): c.4214dupC (p.Gly1406Argfs)duplicationPathogenicrs281874731GRCh37Chr X, 107929276: 107929277
508COL4A5NM_000495.4(COL4A5): c.4228C> T (p.Arg1410Cys)single nucleotide variantPathogenicrs104886270GRCh37Chr X, 107929290: 107929290
509COL4A5NM_000495.4(COL4A5): c.4261G> T (p.Gly1421Trp)single nucleotide variantPathogenicrs104886272GRCh37Chr X, 107929323: 107929323
510COL4A5NM_000495.4(COL4A5): c.4279G> T (p.Gly1427Cys)single nucleotide variantPathogenicrs104886273GRCh37Chr X, 107929341: 107929341
511COL4A5NM_000495.4(COL4A5): c.4280G> T (p.Gly1427Val)single nucleotide variantPathogenicrs104886274GRCh37Chr X, 107929342: 107929342
512COL4A5NM_033380.2(COL4A5): c.4315+1G> A (p.?)single nucleotide variantPathogenicrs104886274GRCh37Chr X, 107929342: 107929342
513COL4A5NM_033380.2(COL4A5): c.4316-1G> C (p.?)single nucleotide variantPathogenicrs281874734GRCh37Chr X, 107930711: 107930711
514COL4A5NP_203699.1: p.?deletionPathogenic
515COL4A5NM_000495.4(COL4A5)duplicationPathogenicrs281874736GRCh37Chr X, 107930764: 107930765
516COL4A5NM_000495.4(COL4A5): c.4324G> C (p.Gly1442Arg)single nucleotide variantPathogenicrs104886276GRCh37Chr X, 107930738: 107930738
517COL4A5NM_000495.4(COL4A5): c.4325_4351del27 (p.Asp1444_Pro1452del)deletionPathogenicrs104886412GRCh37Chr X, 107930721: 107930747
518COL4A5NM_000495.4(COL4A5): c.4351G> A (p.Gly1451Ser)single nucleotide variantPathogenicrs104886280GRCh37Chr X, 107930765: 107930765
519COL4A5NM_000495.4(COL4A5): c.4325G> C (p.Gly1442Ala)single nucleotide variantPathogenicrs104886277GRCh37Chr X, 107930739: 107930739
520COL4A5NM_000495.4(COL4A5): c.4325G> A (p.Gly1442Asp)single nucleotide variantPathogenicrs104886277GRCh37Chr X, 107930739: 107930739
521COL4A5NM_000495.4(COL4A5): c.4342G> A (p.Gly1448Ser)single nucleotide variantPathogenicrs104886279GRCh37Chr X, 107930756: 107930756
522COL4A5NM_000495.4(COL4A5): c.4344_4345insT (p.Pro1449Serfs)duplicationPathogenicrs104886418GRCh37Chr X, 107930739: 107930741
523COL4A5NM_000495.4(COL4A5): c.4349delC (p.Pro1450Glnfs)deletionPathogenicrs104886275GRCh37Chr X, 107930763: 107930763
524COL4A5NM_000495.4(COL4A5): c.4436_4437delGA (p.Gly1479Aspfs)deletionPathogenicrs104886420GRCh37Chr X, 107930850: 107930851
525COL4A5NM_000495.4(COL4A5): c.4437delA (p.Thr1480Hisfs)deletionPathogenicrs104886281GRCh37Chr X, 107930851: 107930851
526COL4A5NM_000495.4(COL4A5): c.4457G> C (p.Gly1486Ala)single nucleotide variantPathogenicrs104886282GRCh37Chr X, 107930871: 107930871
527COL4A5NM_000495.4(COL4A5): c.4463C> T (p.Ser1488Phe)single nucleotide variantPathogenicrs104886283GRCh37Chr X, 107930877: 107930877
528COL4A5NM_000495.4(COL4A5): c.4491_4492delAG (p.Arg1497Serfs)deletionPathogenicrs104886421GRCh37Chr X, 107930905: 107930906
529COL4A5NM_000495.4(COL4A5): c.4493C> A (p.Ala1498Asp)single nucleotide variantPathogenicrs104886284GRCh37Chr X, 107930907: 107930907
530COL4A5NM_000495.4(COL4A5): c.4501C> T (p.Gln1501Ter)single nucleotide variantPathogenicrs281874741GRCh37Chr X, 107930915: 107930915
531COL4A5NM_033380.2(COL4A5): c.4528+1G> C (p.?)single nucleotide variantPathogenicrs104886413GRCh37Chr X, 107930925: 107930925
532COL4A5NM_000495.4(COL4A5): c.4513delA (p.Thr1505Argfs)deletionPathogenicrs281874742GRCh37Chr X, 107935980: 107935980
533COL4A5NP_203699.1: p.Thr1505fsindelPathogenic
534COL4A5NM_000495.4(COL4A5): c.4549C> A (p.Pro1517Thr)single nucleotide variantPathogenicrs201220208GRCh37Chr X, 107936016: 107936016
535COL4A5NM_000495.4(COL4A5): c.4563C> A (p.Cys1521Ter)single nucleotide variantPathogenicrs104886292GRCh37Chr X, 107936030: 107936030
536COL4A5NM_000495.4(COL4A5): c.4613G> C (p.Trp1538Ser)single nucleotide variantPathogenicrs104886293GRCh37Chr X, 107936080: 107936080
537COL4A5NM_000495.4(COL4A5): c.4614G> A (p.Trp1538Ter)single nucleotide variantPathogenicrs104886294GRCh37Chr X, 107936081: 107936081
538COL4A5NP_203699.1: p.Ser1562fsdeletionPathogenic
539COL4A5NM_000495.4(COL4A5): c.4687C> T (p.Arg1563Ter)single nucleotide variantPathogenicrs104886286GRCh37Chr X, 107936154: 107936154
540COL4A5NM_000495.4(COL4A5): c.4690T> C (p.Cys1564Arg)single nucleotide variantPathogenicrs281874745GRCh37Chr X, 107938038: 107938038
541COL4A5NM_000495.4(COL4A5): c.4688G> A (p.Arg1563Gln)single nucleotide variantPathogenicrs281874743GRCh37Chr X, 107936155: 107936155
542COL4A5NM_033380.2(COL4A5): c.4707-30_4707-9del22insCA (p.?)indelPathogenicrs281874744GRCh37Chr X, 107938007: 107938028
543COL4A5NM_033380.2(COL4A5): c.4707-3del32 (p.?)deletionPathogenicrs397515493GRCh37Chr X, 107938034: 107938034
544COL4A5NM_000495.3: c.4689-?_5058+?deldeletionPathogenic
545COL4A5NM_000495.4(COL4A5): c.4691G> C (p.Cys1564Ser)single nucleotide variantPathogenicrs104886287GRCh37Chr X, 107938039: 107938039
546COL4A5NM_000495.4(COL4A5): c.4699T> C (p.Cys1567Arg)single nucleotide variantPathogenicrs104886288GRCh37Chr X, 107938047: 107938047
547COL4A5NM_000495.4(COL4A5): c.4702G> A (p.Glu1568Lys)single nucleotide variantPathogenicrs281874746GRCh37Chr X, 107938050: 107938050
548COL4A5NM_000495.4(COL4A5): c.4750_4756delCCCCATT (p.Pro1584Valfs)deletionPathogenicrs104886422GRCh37Chr X, 107938080: 107938086
549COL4A5NM_000495.4(COL4A5): c.4751C> T (p.Pro1584Leu)single nucleotide variantPathogenicrs281874747GRCh37Chr X, 107938099: 107938099
550COL4A5NM_000495.4(COL4A5): c.4756T> C (p.Cys1586Arg)single nucleotide variantPathogenicrs104886289GRCh37Chr X, 107938104: 107938104
551COL4A5NM_000495.4(COL4A5): c.4757G> T (p.Cys1586Phe)single nucleotide variantPathogenicrs104886290GRCh37Chr X, 107938105: 107938105
552COL4A5NM_000495.4(COL4A5): c.4766G> T (p.Gly1589Val)single nucleotide variantPathogenicrs104886291GRCh37Chr X, 107938114: 107938114
553COL4A5NM_000495.4(COL4A5): c.4768T> G (p.Trp1590Gly)single nucleotide variantPathogenicrs104886296GRCh37Chr X, 107938116: 107938116
554COL4A5NM_000495.4(COL4A5): c.4787G> A (p.Gly1596Asp)single nucleotide variantPathogenicrs104886297GRCh37Chr X, 107938135: 107938135
555COL4A5NM_000495.4(COL4A5): c.4790A> G (p.Tyr1597Cys)single nucleotide variantPathogenicrs104886298GRCh37Chr X, 107938138: 107938138
556COL4A5NM_000495.4(COL4A5): c.4791T> A (p.Tyr1597Ter)single nucleotide variantPathogenicrs104886299GRCh37Chr X, 107938139: 107938139
557COL4A5NM_000495.4(COL4A5): c.4803G> A (p.Met1601Ile)single nucleotide variantPathogenicrs104886300GRCh37Chr X, 107938151: 107938151
558COL4A5NP_203699.1: p.?insertionPathogenic
559COL4A5NM_033380.2(COL4A5): c.4821+1G> A (p.?)single nucleotide variantPathogenicrs104886424GRCh37Chr X, 107938134: 107938134
560COL4A5NM_033380.2(COL4A5): c.4821+121T> C (p.?)single nucleotide variantPathogenicrs104886423GRCh37Chr X, 107938272: 107938272
561COL4A5NM_033380.2(COL4A5): c.4822-151_4822-150insT (p.?)insertionPathogenicrs397515494GRCh37Chr X, 107938346: 107938347
562COL4A5NM_000495.4(COL4A5): c.4832delG (p.Gly1611Valfs)deletionPathogenicrs104886301GRCh37Chr X, 107938525: 107938525
563COL4A5NM_000495.4(COL4A5): c.4894T> G (p.Cys1632Gly)single nucleotide variantPathogenicrs281874750GRCh37Chr X, 107938587: 107938587
564COL4A5NM_000495.4(COL4A5): c.4913G> A (p.Cys1638Tyr)single nucleotide variantPathogenicrs104886302GRCh37Chr X, 107938606: 107938606
565COL4A5NM_000495.4(COL4A5): c.4968delC (p.Asp1656Glufs)deletionPathogenicrs104886304GRCh37Chr X, 107938661: 107938661
566COL4A5NM_000495.4(COL4A5): c.4976G> A (p.Ser1659Asn)single nucleotide variantPathogenicrs104886305GRCh37Chr X, 107938669: 107938669
567COL4A5NM_033380.2(COL4A5): c.4995-2A> G (p.?)single nucleotide variantPathogenicrs281874752GRCh37Chr X, 107939525: 107939525
568COL4A5NM_000495.4(COL4A5): c.4994_5001delCGCTGAAA (p.Thr1665Serfs)deletionPathogenicGRCh37Chr X, 107938669: 107939533
569COL4A5NM_000495.4(COL4A5): c.5020C> T (p.Arg1674Ter)single nucleotide variantPathogenicrs281874753GRCh37Chr X, 107939570: 107939570
570COL4A5NM_000495.4(COL4A5): c.5029C> T (p.Arg1677Ter)single nucleotide variantPathogenicrs104886306GRCh37Chr X, 107939579: 107939579
571COL4A5NM_000495.4(COL4A5): c.5030G> C (p.Arg1677Pro)single nucleotide variantPathogenicrs104886308GRCh37Chr X, 107939580: 107939580
572COL4A5NM_000495.4(COL4A5): c.5032T> C (p.Cys1678Arg)single nucleotide variantPathogenicrs104886310GRCh37Chr X, 107939582: 107939582
573COL4A5NM_000495.4(COL4A5): c.5034delT (p.Gln1679Lysfs)deletionPathogenicrs104886307GRCh37Chr X, 107939584: 107939584
574COL4A5NM_000495.4(COL4A5): c.5034T> G (p.Cys1678Trp)single nucleotide variantPathogenicrs104886311GRCh37Chr X, 107939584: 107939584
575COL4A5NM_000495.4(COL4A5): c.5042G> T (p.Cys1681Phe)single nucleotide variantPathogenicrs281874754GRCh37Chr X, 107939592: 107939592
576COL4A5NM_000495.4: c.(?_-2184)_(81_?)deldeletionPathogenic
577COL4A5NM_000495.3: c.1-?_3246+?deldeletionPathogenic
578COL4A5NM_000495.4: c.(?_-2184)_(81_?)deldeletionPathogenic
579COL4A5NM_000495.3: c.1-?_5058+?deldeletionPathogenic
580COL4A5NM_000495.3: c.1-?_5058+?deldeletionPathogenic
581COL4A5c82-?_5058+?deldeletionPathogenic
582COL4A5NM_000495.4(COL4A5): c.430G> C (p.Gly144Arg)single nucleotide variantPathogenicrs104886052GRCh37Chr X, 107814688: 107814688
583COL4A5NM_000495.4(COL4A5): c.438+2T> Csingle nucleotide variantPathogenicrs281874738GRCh37Chr X, 107814698: 107814698
584COL4A5NM_000495.4(COL4A5): c.476delG (p.Gly159Valfs)deletionPathogenicrs281874748GRCh37Chr X, 107816814: 107816814
585COL4A5NM_000495.4(COL4A5): c.573_574insGA (p.Gly192Glufs)insertionPathogenicrs281874757GRCh37Chr X, 107819166: 107819167
586COL4A5NM_000495.4(COL4A5): c.665T> G (p.Phe222Cys)single nucleotide variantPathogenicrs281874761GRCh37Chr X, 107821327: 107821327
587COL4A5NM_000495.4(COL4A5): c.682G> T (p.Glu228Ter)single nucleotide variantPathogenicrs281874762GRCh37Chr X, 107821344: 107821344
588COL4A5NM_000495.4(COL4A5): c.788delC (p.Pro263Leufs)deletionPathogenicrs281874764GRCh37Chr X, 107823770: 107823770
589COL4A5NM_000495.4(COL4A5): c.1135C> T (p.Gln379Ter)single nucleotide variantPathogenicrs281874657GRCh37Chr X, 107829947: 107829947
590COL4A5NM_000495.4(COL4A5): c.1216G> A (p.Gly406Ser)single nucleotide variantPathogenicrs281874660GRCh37Chr X, 107834338: 107834338
591COL4A5NM_000495.4(COL4A5): c.1589G> A (p.Gly530Asp)single nucleotide variantPathogenicrs281874671GRCh37Chr X, 107840608: 107840608
592COL4A5NM_000495.4(COL4A5): c.1744G> A (p.Gly582Arg)single nucleotide variantPathogenicrs281874677GRCh37Chr X, 107840763: 107840763
593COL4A5NM_000495.4(COL4A5): c.1835G> A (p.Gly612Asp)single nucleotide variantPathogenicrs281874680GRCh37Chr X, 107841987: 107841987
594COL4A5NM_000495.4(COL4A5): c.1883C> T (p.Pro628Leu)single nucleotide variantPathogenicrs281874682GRCh37Chr X, 107842035: 107842035
595COL4A5c1949-?_2395+?deldeletionPathogenic
596COL4A5NM_000495.4(COL4A5): c.2014G> C (p.Gly672Arg)single nucleotide variantPathogenicrs281874685GRCh37Chr X, 107844688: 107844688
597COL4A5NM_000495.4(COL4A5): c.2164G> C (p.Gly722Arg)single nucleotide variantPathogenicrs281874687GRCh37Chr X, 107846211: 107846211
598COL4A5NM_000495.4(COL4A5)indelPathogenicrs397515495GRCh37Chr X, 107858179: 107858186
599COL4A5NM_000495.4(COL4A5): c.2483G> A (p.Gly828Glu)single nucleotide variantPathogenicrs281874695GRCh37Chr X, 107858228: 107858228
600COL4A5c2510-?_3246+?deldeletionPathogenic
601COL4A5NM_000495.4: c.2587_2606del20ins75indelPathogenicGRCh37Chr X, 107863566: 107863585
602COL4A5NM_000495.4(COL4A5): c.2623G> C (p.Gly875Arg)single nucleotide variantPathogenicrs281874698GRCh37Chr X, 107863602: 107863602
603COL4A5NM_000495.4(COL4A5): c.2678G> T (p.Gly893Val)single nucleotide variantPathogenicrs397515496GRCh37Chr X, 107865033: 107865033
604COL4A5NM_000495.4(COL4A5): c.2696_2705delGTATGATGGG (p.Gly899Aspfs)deletionPathogenicrs281874701GRCh37Chr X, 107865051: 107865060
605COL4A5NM_000495.4(COL4A5): c.2696G> T (p.Gly899Val)single nucleotide variantPathogenicrs281874702GRCh37Chr X, 107865051: 107865051
606COL4A5NM_000495.3: c.2918-?_5058+?deldeletionPathogenic
607COL4A5NM_000495.4(COL4A5): c.2947delT (p.Tyr983Ilefs)deletionPathogenicrs281874708GRCh37Chr X, 107867495: 107867495
608COL4A5NM_000495.4(COL4A5): c.3107-4A> Gsingle nucleotide variantPathogenicrs397515497GRCh37Chr X, 107869436: 107869436
609COL4A5NM_000495.3: c.3017-?_3246+?deldeletionPathogenicGRCh37Chr X, 107868935: 107869579
610COL4A5NM_000495.4(COL4A5): c.3046delC (p.Gln1016Serfs)deletionPathogenicrs281874710GRCh37Chr X, 107868964: 107868964
611COL4A5c3247-?_4198+?deldeletionPathogenic
612COL4A5notavailableinsertionPathogenic
613COL4A5NM_000495.3: c.[3837_3845del;3857dupA]duplicationPathogenic
614COL4A5ins10-15kb(intron46);del25kbindelPathogenic
615COL4A5NM_000495.4(COL4A5): c.4235delG (p.Gly1412Aspfs)deletionPathogenicrs281874732GRCh37Chr X, 107929297: 107929297
616COL4A5NM_000495.3: c.4253_4262del;4263_4280dupdeletionPathogenic
617COL4A5NM_000495.4(COL4A5): c.4271G> A (p.Gly1424Glu)single nucleotide variantPathogenicrs281874733GRCh37Chr X, 107929333: 107929333
618COL4A5NM_000495.4(COL4A5): c.4280G> C (p.Gly1427Ala)single nucleotide variantPathogenicrs104886274GRCh37Chr X, 107929342: 107929342
619COL4A5NM_000495.4(COL4A5): c.4298G> T (p.Gly1433Val)single nucleotide variantPathogenicrs281874735GRCh37Chr X, 107930712: 107930712
620COL4A5NM_000495.4(COL4A5): c.4439C> G (p.Thr1480Arg)single nucleotide variantPathogenicrs281874740GRCh37Chr X, 107930853: 107930853
621COL4A5ins10-15kb(intron47);del~40kb3'toCOL4A5indelPathogenic
622COL4A5NM_000495.4(COL4A5): c.4780_4781delTG (p.Trp1594Aspfs)deletionPathogenicrs281874749GRCh37Chr X, 107938128: 107938129
623COL4A5NM_000495.4(COL4A5): c.4942dupT (p.Trp1648Leufs)duplicationPathogenicrs281874751GRCh37Chr X, 107938635: 107938636
624COL4A5NM_000495.4(COL4A5): c.5030G> T (p.Arg1677Leu)single nucleotide variantPathogenicrs104886308GRCh37Chr X, 107939580: 107939580

Expression for genes affiliated with Alport Syndrome

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Search GEO for disease gene expression data for Alport Syndrome.

Pathways for genes affiliated with Alport Syndrome

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

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0COL4A3, COL4A4, COL4A1
2
Show member pathways
8.7COL4A1, COL4A5, COL4A4, COL4A3
3
Show member pathways
8.7COL4A1, COL4A5, COL4A4, COL4A3
4
Show member pathways
8.3COL4A1, COL4A5, COL4A4, COL4A3, MYH9
58.2COL4A5, COL4A4, COL4A6, COL4A3, COL4A1
68.2COL4A1, COL4A5, COL4A4, COL4A6, COL4A3
78.2COL4A1, COL4A5, COL4A4, COL4A6, COL4A3
88.2COL4A1, COL4A5, COL4A4, COL4A6, COL4A3
9
Show member pathways
8.2COL4A3, COL4A6, COL4A4, COL4A5, COL4A1
10
Show member pathways
Integrin-mediated cell adhesion36
Focal Adhesion36
8.2COL4A3, COL4A6, COL4A4, COL4A5, COL4A1
118.2COL4A3, COL4A6, COL4A4, COL4A5, COL4A1
12
Show member pathways
8.2COL4A3, COL4A6, COL4A4, COL4A5, COL4A1
138.2COL4A3, COL4A6, COL4A4, COL4A5, COL4A1
148.2COL4A3, COL4A6, COL4A4, COL4A5, COL4A1
15
Show member pathways
Metalloproteases in connective tissue degradation
8.2COL4A3, COL4A6, COL4A4, COL4A5, COL4A1
168.2COL4A3, COL4A6, COL4A4, COL4A5, COL4A1
17
Show member pathways
8.2COL4A3, COL4A6, COL4A4, COL4A5, COL4A1
18
Show member pathways
7.8MYH9, COL4A3, COL4A6, COL4A4, COL4A5, COL4A1
19
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility58
Cytoskeleton remodeling Integrin outside in signaling58
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases58
Cell adhesion Tight junctions58
Development MAG dependent inhibition of neurite outgrowth58
7.8MYH9, COL4A3, COL4A6, COL4A4, COL4A5, COL4A1
20
Show member pathways
7.8MYH9, COL4A3, COL4A6, COL4A4, COL4A5, COL4A1

Compounds for genes affiliated with Alport Syndrome

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Sources:
43Novoseek
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Compounds related to Alport Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1arresten439.3COL4A1, 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:00056059.8COL4A4, COL4A5
2neuromuscular junctionGO:00315949.5COL4A5, MYH9
3basement membraneGO:00056049.3COL4A1, COL4A3
4collagen type IVGO:00055878.3COL4A1, COL4A5, COL4A4, COL4A6, COL4A3
5endoplasmic reticulum lumenGO:00057888.3COL4A3, COL4A6, COL4A4, COL4A5, COL4A1
6extracellular regionGO:00055768.1COL4A3, COL4A6, COL4A4, COL4A5, COL4A1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1glomerular basement membrane developmentGO:00328369.7COL4A4, COL4A3
2cellular response to amino acid stimulusGO:00712309.2COL4A1, COL4A6
3neuromuscular junction developmentGO:00075289.1COL4A1, COL4A5
4collagen catabolic processGO:00305748.4COL4A1, COL4A5, COL4A4, COL4A6, COL4A3
5extracellular matrix disassemblyGO:00226178.3COL4A3, COL4A6, COL4A4, COL4A5, COL4A1
6extracellular matrix organizationGO:00301988.3COL4A3, COL4A6, COL4A4, COL4A5, COL4A1
7axon guidanceGO:00074118.3MYH9, COL4A3, COL4A4, COL4A5, COL4A1

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052018.2COL4A1, COL4A5, COL4A4, COL4A6, COL4A3

Products for genes affiliated with Alport Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Alport Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet