APSX
MCID: ALP004
MIFTS: 69

Alport Syndrome (APSX) malady

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

Aliases & Classifications for Alport Syndrome

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 35LifeMap Discovery®, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Alport Syndrome:

Name: Alport Syndrome 52 35 11 48 25 54 27 12 13 68
Alport Syndrome, X-Linked 52 48 70 50 68
Hemorrhagic Hereditary Nephritis 48 25 68
X-Linked Alport Syndrome 11 54 13
Hereditary Nephritis 11 25 68
Congenital Hereditary Hematuria 48 25
Hemorrhagic Familial Nephritis 48 25
Hereditary Familial Congenital Hemorrhagic Nephritis 25
Hematuria-Nephropathy-Deafness Syndrome 25
Hereditary Interstitial Pyelonephritis 25
 
Nephropathy and Deafness, X-Linked 11
Hematuric Hereditary Nephritis 25
Hereditary Hematuria Syndrome 25
Nephritis-Deafness Syndrome 70
Alport Deafness-Nephropathy 54
Nephropathy and Deafness 70
Nephritis, Hereditary 39
Alports Syndrome 50
Apsx 70
Ats 11

Characteristics:

Orphanet epidemiological data:

54
alport syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood
x-linked alport syndrome:
Inheritance: X-linked dominant; Age of onset: Childhood

HPO:

64
alport syndrome:
Inheritance: x-linked dominant inheritance, heterogeneous
Onset and clinical course: progressive

Classifications:



External Ids:

OMIM52 301050
Disease Ontology11 DOID:0110034, DOID:10983
MeSH39 D009394
SNOMED-CT62 399340005, 57333009
MESH via Orphanet40 D009394
UMLS via Orphanet69 C1567741, C1567742
ICD10 via Orphanet31 Q87.8

Summaries for Alport Syndrome

About this section
NIH Rare Diseases:48 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 characteristic of 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 rarely in an autosomal dominant manner. in these cases, the condition is caused by mutations in the col4a3 or col4a4 genes. diagnosis of the condition is based on family history of the condition, clinical signs, and specific testing such as a kidney biopsy. the diagnosis can be confirmed by genetic testing. 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: 3/18/2017

MalaCards based summary: Alport Syndrome, also known as alport syndrome, x-linked, is related to alport syndrome, autosomal dominant and hematuria, benign familial, and has symptoms including Array, Array and Array. An important gene associated with Alport Syndrome is COL4A5 (Collagen Type IV Alpha 5 Chain), and among its related pathways are Platelet Aggregation Inhibitor Pathway, Pharmacodynamics and miRNA targets in ECM and membrane receptors. Affiliated tissues include kidney, eye and testes, and related mouse phenotypes are hematopoietic system and renal/urinary system.

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

Genetics Home Reference:25 Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.

OMIM:52 Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to... (301050) more...

UniProtKB/Swiss-Prot:70 Alport syndrome, X-linked: A syndrome that is characterized by progressive glomerulonephritis, renal failure, sensorineural deafness, specific eye abnormalities (lenticonous and macular flecks), and glomerular basement membrane defects. The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness.

Wikipedia:71 Alport syndrome is a genetic disorder affecting around 1 in 50,000 children, characterized by... more...

Related Diseases for Alport Syndrome

About this section

Diseases in the Alport Syndrome family:

Alport Syndrome, Autosomal Recessive Alport Syndrome, Autosomal Dominant

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

(show top 50)    (show all 93)
idRelated DiseaseScoreTop Affiliating Genes
1alport syndrome, autosomal dominant33.8COL4A3, COL4A4, COL4A5
2hematuria, benign familial31.2COL4A3, COL4A4, COL4A5, COL4A6, MYH9
3alport syndrome, autosomal recessive12.3
4alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis12.2
5alport syndrome and thin basement membrane nephropathy12.0
6cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk11.8
7pulmonary fungal infections in patients deemed at risk11.8
8poliomyelitis in patients with immunodeficiencies deemed at risk11.8
9epstein syndrome11.8
10x-linked diffuse leiomyomatosis-alport syndrome11.7
11fechtner syndrome11.6
12arterial tortuosity syndrome11.6
13ataxia-telangiectasia11.5
14atypical teratoid rhabdoid tumor11.3
15thrombophilia due to antithrombin iii deficiency11.3
16nijmegen breakage syndrome11.3
17ceroid lipofuscinosis, neuronal, 111.2
18hereditary antithrombin deficiency11.1
19leiomyomatosis, esophageal and vulval, with nephropathy11.0
20andersen syndrome10.9
21neural tube defects10.9
22ceroid lipofuscinosis, neuronal, 210.8
23intermediate coronary syndrome10.8
24nephropathy with pretibial epidermolysis bullosa and deafness10.8
25may-hegglin anomaly10.8
26sebastian syndrome10.8
27nephrocalcinosis10.8
28leiomyomatosis10.4
29linear verrucous nevus syndrome10.3COL4A5, COL4A6
30malignant migrating partial seizures of infancy10.3COL4A1, COL4A5
31brca1- and brca2-associated hereditary breast and ovarian cancer10.2COL4A3, COL4A4, COL4A5
32fara chlupackova syndrome10.2COL4A1, COL4A2
33membranous nephropathy10.2
34cholangitis, primary sclerosing10.2COL4A1, LAMA5
35spinal canal and spinal cord meningioma10.2CD79A, COL4A3
36epithelioid neurofibroma10.1COL4A3, COL4A4, COL4A5, COL4A6
37muscular dystrophy10.1CD79A, MYH9
38photosensitive epilepsy10.1COL4A1, COL4A2
39esophagitis10.1
40osteogenesis imperfecta, type iii10.1ALB, COL1A2
41gustavson syndrome10.1ACSL4, AMMECR1, COL4A5, KCNE5
42atopic dermatitis 610.1ALB, CD79A
43gastric cancer10.1COL4A3, MYH9, MYO1E
44colloid adenoma10.1ALB, CD79A
45schneiderian carcinoma10.1ALB, CD79A
46deafness, autosomal recessive 3010.0COL4A1, COL4A2, COL4A3, COL4A4
47striatonigral degeneration10.0ALB, CD79A
48infertility due to extratesticular cause10.0ALB, CD79A
49retinitis10.0
50macular holes10.0

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



Diseases related to alport syndrome

Symptoms & Phenotypes for Alport Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

301050

Clinical features from OMIM:

301050

Human phenotypes related to Alport Syndrome:

 54 64 (show all 43)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency64 54 Frequent (79-30%) HP:0000083
2 proteinuria64 54 Frequent (79-30%) HP:0000093
3 nephrotic syndrome64 54 Frequent (79-30%) HP:0000100
4 tinnitus64 54 Frequent (79-30%) HP:0000360
5 sensorineural hearing impairment64 54 Very frequent (99-80%) HP:0000407
6 retinopathy64 54 Very frequent (99-80%) HP:0000488
7 cataract64 54 Frequent (79-30%) HP:0000518
8 myopia64 54 Occasional (29-5%) HP:0000545
9 photophobia64 54 Occasional (29-5%) HP:0000613
10 hematuria64 54 Very frequent (99-80%) HP:0000790
11 hypertension64 54 Frequent (79-30%) HP:0000822
12 dry skin64 54 Frequent (79-30%) HP:0000958
13 pallor64 54 Frequent (79-30%) HP:0000980
14 corneal dystrophy64 54 Occasional (29-5%) HP:0001131
15 subcutaneous nodule64 54 Occasional (29-5%) HP:0001482
16 weight loss64 54 Frequent (79-30%) HP:0001824
17 thrombocytopenia64 54 Occasional (29-5%) HP:0001873
18 leukopenia64 54 Frequent (79-30%) HP:0001882
19 vomiting64 54 Occasional (29-5%) HP:0002013
20 dysphagia64 54 Occasional (29-5%) HP:0002015
21 dyspnea64 54 Frequent (79-30%) HP:0002094
22 headache64 54 Frequent (79-30%) HP:0002315
23 abdominal situs inversus64 54 Occasional (29-5%) HP:0003363
24 diffuse leiomyomatosis64 54 Occasional (29-5%) HP:0006756
25 macular dystrophy64 54 Occasional (29-5%) HP:0007754
26 edema of the lower limbs64 54 Frequent (79-30%) HP:0010741
27 uterine neoplasm64 54 Occasional (29-5%) HP:0010784
28 morphological abnormality of the semicircular canal64 54 Very frequent (99-80%) HP:0011380
29 lentiglobus64 54 Frequent (79-30%) HP:0011527
30 fatigue64 54 Frequent (79-30%) HP:0012378
31 neoplasm of the colon64 54 Occasional (29-5%) HP:0100273
32 periorbital edema64 54 Frequent (79-30%) HP:0100539
33 glomerulopathy64 54 Very frequent (99-80%) HP:0100820
34 nephritis64 HP:0000123
35 congenital cataract64 HP:0000519
36 hypoparathyroidism64 HP:0000829
37 microscopic hematuria64 HP:0002907
38 stage 5 chronic kidney disease64 HP:0003774
39 thickening of the glomerular basement membrane64 HP:0004722
40 ichthyosis64 HP:0008064
41 anterior lenticonus64 HP:0011501
42 diffuse glomerular basement membrane lamellation64 HP:0030034
43 corneal erosion64 HP:0200020

MGI Mouse Phenotypes related to Alport Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.1ACSL4, CD79A, COL4A1, COL4A2, COL4A3, COL4A5
2MP:00053677.9ALB, CD79A, COL4A1, COL4A3, COL4A4, COL4A5
3MP:00053917.6COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, LAMA5
4MP:00107687.4ACSL4, ALB, COL1A2, COL4A1, COL4A2, COL4A3
5MP:00053857.4ACSL4, COL1A2, COL4A1, COL4A2, COL4A3, COL4A5
6MP:00053767.2ACSL4, ALB, CD79A, COL1A2, COL4A1, COL4A3

Drugs & Therapeutics for Alport Syndrome

About this section

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

(show all 36)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
RamiprilapprovedPhase 315287333-19-55362129
Synonyms:
(2 S ,3 aS ,6 aS )-1[( S )-N-[( S )-1-Carboxy-3-phenylpropyl] alanyl] octahydrocyclopenta [ b ]pyrrole-2-carboxylic acid, 1-ethyl ester
(2S,3aS,6aS)-1-((S)-2-((S)-1-ethoxy-1-oxo-4-phenylbutan-2-ylamino)propanoyl) octahydrocyclopenta[b]pyrrole-2-carboxylic acid
(2S,3aS,6aS)-1-((S)-N-((S)-1-Carboxy-3-phenylpropyl)alanyl)octahydrocyclopenta(b)pyrrole-2-carboxylic acid, 1-ethyl ester
(2S,3aS,6aS)-1-((S)-N-((S)-1-Ethoxycarbonyl-3-phenylpropyl)alanyl)octahydrocyclopenta(b)pyrrol-2-carbonsaeure
(2S,3aS,6aS)-1-[(2S)-2-[[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]-3,3a,4,5,6,6a-hexahydro-2H-cyclopenta[b]pyrrole-2-carboxylic acid
(2S,3aS,6aS)-1-[(2S)-2-{[(1S)-1-ethoxycarbonyl-3-phenylpropyl]amino}propanoyl]octahydrocyclopenta[b]pyrrole-2-carboxylic acid
(2S,3aS,6aS)-1-[(2S)-2-{[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino}propanoyl]octahydrocyclopenta[b]pyrrole-2-carboxylic acid (non-preferred name)
(2S-(1(R*(R*)),2alpha,3abeta,6abeta))-1-(2-((1-(Ethoxycarbonyl)-3-phenylpropyl)amino)-1-oxopropyl)octahydrocyclopenta(b)pyrrole-2-carboxylic acid.
(2S-(1(R*(r*)),2alpha,3abeta,6abeta))-1-(2-((1-(ethoxycarbonyl)-3-phenylpropyl)amino)-1-oxopropyl)octahydrocyclopenta(b)pyrrole-2-carboxylic acid
(2s,3as,6as)-1((s)-n-((s)-1-carboxy-3-phenylpropyl)alanyl)octahydrocyclopenta(b)pyrrole-2-carboxylic
(2s,3as,6as)-1-((s)-2-((s)-1-ethoxy-1-oxo-4-phenylbutan-2-ylamino)propanoyl)-octahydrocyclopenta[b]p
(2s,3as,6as)-1-[(s)-2-((s)-1-ethoxycarbonyl-3-phenyl-propylamino)-propionyl]-octahydro-cyclopenta[b]
126613-39-6
87333-19-5
AC-1347
AC1NSFPR
Acovil
Almirall Brand of Ramipril
Altace
Altace (TN)
Altace (tn)
Astra Brand of Ramipril
AstraZeneca Brand of Ramipril
Aventis Brand of Ramipril
Aventis Pharma Brand of Ramipril
BIDD:GT0803
BSPBio_003347
Bio-0651
C23H32N2O5
CHEBI:289203
CHEBI:8774
CHEMBL1168
CID5362129
CPD000466386
Carasel
Cardace
D00421
D017257
DB00178
Delix
HMS2051E04
HMS2090L11
HMS2093M10
HOE 498
HOE498
Hoe-498
Hoechst Brand of Ramipril
 
Hypren
Hytren
KBio2_002504
KBio2_005072
KBio2_007640
KBio3_002849
KBioGR_001858
KBioSS_002512
LS-58199
Lostapres
MLS000759523
MLS001216547
MLS001423965
MolPort-001-736-571
Monarch Brand of Ramipril
N-(1S-carboethoxy-3-phenylpropyl)-S-alanyl-cis,endo-2-azabicyclo[3.3.0]octane-3S-carboxylic Acid
NCGC00178127-01
Naprix
Pramace
Pramace (discontinued)
Promed Brand of Ramipril
Quark
R0404_SIGMA
Ramace
Ramipril
Ramipril (USP/INN)
Ramipril [USAN:INN:BAN]
Ramiprilum
Ramiprilum [Latin]
Ramipro, Tritace, Altace, Prilace, Ramipril
S1793_Selleck
SAM001246757
SAM002699899
SMR000466386
SPECTRUM1505214
STK801937
Spectrum3_001794
Spectrum4_001269
Spectrum5_001721
Spectrum_001958
Triatec
Tritace
UNII-L35JN3I7SJ
Unipril
Vesdil
Zabien
[2S,3aS,6aS]-1-[(2S)-2-[[(1S)-1-(Ethoxycarbonyl)-3-phenylpropyl]amino]-1-oxopropyl]octahydrocyclopenta[b]pyrrole-2-carboxylic acid
[2s,3as,6as]-1-[(2s)-2-[[(1s)-1-(ethoxycarbonyl)-3-phenylpropyl]amino]-1-oxopropyl]octahydrocyclopen
ramipril
2Angiotensin-Converting Enzyme InhibitorsPhase 3, Phase 2724
3
protease inhibitorsPhase 3, Phase 25471
Synonyms:
 
protease inhibitors
4Antihypertensive AgentsPhase 3, Phase 24207
5HIV Protease InhibitorsPhase 3, Phase 25470
6
FluvastatinapprovedPhase 25893957-54-11548972
Synonyms:
(+)-(3R,5S)-fluvastatin
(-)-(3S,5R)-fluvastatin
(3R,5R,6E)-7-[3-(4-fluorophenyl)-1-(propan-2-yl)-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3R,5R,6E)-7-[3-(4-fluorophenyl)-1-isopropyl-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3R,5S)-7-[3-(4-fluorophenyl)-1-propan-2-ylindol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3R,5S,6E)-7-[3-(4-fluorophenyl)-1-(1-methylethyl)-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3R,5S,6E)-7-[3-(4-fluorophenyl)-1-(propan-2-yl)-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3R,5S,6E)-7-[3-(4-fluorophenyl)-1-isopropyl-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3R,5S,6E)-rel-7-[3-(4-Fluorophenyl)-1-(1-methylethyl)-1H-indol-2-yl]-3,5-dihydroxy-6-heptenoic acid
(3S,5R,6E)-7-[3-(4-fluorophenyl)-1-(propan-2-yl)-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(3S,5R,6E)-7-[3-(4-fluorophenyl)-1-isopropyl-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(6E)-7-[3-(4-fluorophenyl)-1-(propan-2-yl)-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(6E)-7-[3-(4-fluorophenyl)-1-isopropyl-1H-indol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(E)-7-[3-(4-fluorophenyl)-1-propan-2-ylindol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(E,3R,5S)-7-[3-(4-fluorophenyl)-1-propan-2-ylindol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(E,3S,5R)-7-[3-(4-fluorophenyl)-1-propan-2-ylindol-2-yl]-3,5-dihydroxyhept-6-enoic acid
(Z,3R,5S)-7-[3-(4-fluorophenyl)-1-propan-2-ylindol-2-yl]-3,5-dihydroxyhept-6-enoic acid
7-(3-(4-fluorophenyl)-1-(1-methylethyl)-1H-indol-2-yl)-3,5-dihydroxy-6-heptenoate
7-[3-(4-fluorophenyl)-1-propan-2-ylindol-2-yl]-3,5-dihydroxyhept-6-enoic acid
93957-54-1
AC1L1FUW
AC1L3TXK
AC1L9J7I
AC1LU7LJ
AC1NS4EB
AC1OC9O5
AC1Q1PZO
BIDD:GT0839
BPBio1_000965
BRD-K03602135-236-02-1
BSPBio_000877
C07014
C24H26FNO4
CHEBI:38562
CHEBI:38565
CHEBI:38567
CHEBI:5136
CHEMBL1078
CHEMBL170417
CID10501876
CID146801
CID1548972
CID3403
 
CID446155
CID5353627
CID6914285
CID9887837
CPD001453708
Canef
Cranoc
D07983
DB01095
Fluindostatin
Fluvas
Fluvas (TN)
Fluvastatin & Primycin
Fluvastatin (INN)
Fluvastatin [INN:BAN]
Fluvastatina
Fluvastatina [INN-Spanish]
Fluvastatine
Fluvastatine [INN-French]
Fluvastatinum
Fluvastatinum [INN-Latin]
HMS2089P06
I06-2297
LS-7404
Lescol
Lescol XL
MolPort-003-847-470
Prestwick0_000859
Prestwick1_000859
Prestwick2_000859
Prestwick3_000859
SAM002548940
SPBio_002798
T6624179
TL8005940
UNII-4L066368AS
XU 62320
XU-62320
fluvastatin
fluvastatin sodium
fluvastatina
fluvastatine
fluvastatinum
nchembio.301-comp9
nchembio790-comp18
7
Benazeprilapproved, investigationalPhase 24586541-75-55362124
Synonyms:
2-[(3S)-3-[[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino]-2-oxo-4,5-dihydro-3H-1-benzazepin-1-yl]acetic acid
86541-75-5
AC1NSFPL
BIDD:GT0800
BRD-K49807096-003-02-3
BSPBio_003487
Benazepril (INN)
Benazepril HCl
Benazepril Hydrochloride
Benazepril Sandoz
Benazepril Sandoz (TN)
Benazepril [INN:BAN]
Benazeprilum
Benazeprilum [Latin]
Briem
C06843
CGS-14824-A
CHEBI:3011
CHEMBL838
CID5362124
Cibacen
Cibacene
D07499
DB00542
 
Forteekor [veterinary]
Forteekor [veterinary] (TN)
KBio2_002457
KBio2_005025
KBio2_007593
KBio3_002707
KBioGR_000812
KBioSS_002464
LS-27973
Lotensin
NCGC00165740-01
NCGC00165740-02
SPBio_000343
STK627447
Spectrum2_000482
Spectrum3_001674
Spectrum4_000286
Spectrum5_001546
Spectrum_001922
UNII-UDM7Q7QWP8
[(3S)-3-({(1S)-1-[(ethyloxy)carbonyl]-3-phenylpropyl}amino)-2-oxo-2,3,4,5-tetrahydro-1H-1-benzazepin-1-yl]acetic acid
[(3S)-3-{[(1S)-1-(ethoxycarbonyl)-3-phenylpropyl]amino}-2-oxo-2,3,4,5-tetrahydro-1H-1-benzazepin-1-yl]acetic acid
[(3S)-3-{[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino}-2-oxo-2,3,4,5-tetrahydro-1H-1-benzazepin-1-yl]acetic acid
benazapril
benazepril
benzazepril
8
Valsartanapproved, investigationalPhase 2295137862-53-460846
Synonyms:
(2S)-3-methyl-2-[pentanoyl-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]amino]butanoic acid
(S)-N-Valeryl-N-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]-methyl}-valine
(S)-N-valeryl-N-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]-methyl}-valine
(s)-2-(n-((2'-(1h-tetrazol-5-yl)biphenyl-4-yl)methyl)pentanamido)-3-methylbutanoic acid
137862-53-4
AC-4543
AC1L1U1M
AC1Q5QIK
Ambap137862-53-4
Aventis brand of valsartan
BIDD:GT0345
BRD-K45158365-001-02-3
BSPBio_003501
Bio-0796
C081489
C24H29N5O3
CEPA brand of valsartan
CGP 48933
CGP-48933
CHEBI:9927
CHEMBL1069
CID60846
CPD000466318
D00400
DB00177
Diovan
Diovan (TN)
Diovan, Valsartan
Esteve brand of valsartan
HMS1922L21
HMS2051L12
HMS2093K22
HSDB 7519
KBio2_002287
KBio2_004855
KBio2_007423
KBio3_003006
KBioGR_001078
KBioSS_002289
 
Kalpress
L-Valine, N-(1-oxopentyl)-N-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl]- (9CI)
LS-161334
Lacer brand of valsartan
MLS000759423
MLS001424088
Miten
MolPort-002-507-854
MolPort-003-666-608
N-(1-oxopentyl)-N-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl]-L-valine
N-(P-(O-1H-Tetrazol-5-ylphenyl)benzyl)-N-valeryl-L-valine
N-(p-(o-1H-Tetrazol-5-ylphenyl)benzyl)-N-valeryl-L-valine
N-pentanoyl-N-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-L-valine
N-pentanoyl-N-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-L-valine
N-valeryl-N-((2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl)valine
Nisis
Nisis||
Novartis brand of valsartan
Provas
S1894_Selleck
SAM001246581
SMR000466318
SPBio_001260
SPECTRUM1505209
Sanol brand of valsartan
Schwarz brand of valsartan
Spectrum2_001120
Spectrum3_001831
Spectrum4_000749
Spectrum5_001582
Spectrum_001796
TL8000869
Tareg
UNII-80M03YXJ7I
Vals
Valsarran
Valsartan (JAN/USAN/INN)
Valsartan [USAN:INN]
valsartan
walsartan
|Tareg
9
Riboflavinapproved, nutraceutical, vet_approvedPhase 217483-88-5493570
Synonyms:
(-)-Riboflavin
1-Deoxy-1-(3,4-dihydro-7,8-dimethyl-2,4-dioxobenzo[g]pteridin-10(2H)-yl)-D-ribitol
1-Deoxy-1-(7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl)pentitol
6,7-Dimethyl-9-D-ribitylisoalloxazine
6,7-Dimethyl-9-ribitylisoalloxazine
7,8-Dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)-Benzo[g]pteridine-2,4(3H,10H)-dione
7,8-Dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)isoalloxazine
7,8-Dimethyl-10-ribitylisoalloxazine
Beflavin
Beflavine
Benzo[g]pteridine riboflavin deriv.
E 101
E101
Flavaxin
Flavin BB
Flaxain
Food Yellow 15
 
Hyre
Lactobene
Lactoflavin
Lactoflavine
Ribipca
Ribocrisina
Riboderm
Riboflavina
Riboflavine
Riboflavinum
Ribosyn
Ribotone
Ribovel
Russupteridine yellow III
San Yellow B
Vitaflavine
Vitamin B2
Vitamin G
Vitasan B2
10Liver ExtractsPhase 24067
11
Angiotensin IIPhase 2117868521-88-0, 11128-99-765143, 172198
Synonyms:
1-8-Angiotensin I
1-L-Aspasaginyl-5-L-valyl angiotensin octapeptide
Ang II
Angiotensin 2
Angiotensin II (human)
 
Angiotensin II (mouse)
Angiotonin
Asp-arg-val-TYR-ile-his-pro-phe
Human angiotensin II
Hypertensin
Ile(5)-angiotensin II
12Hypolipidemic AgentsPhase 22785
13AngiotensinogenPhase 21177
14Lipid Regulating AgentsPhase 22766
15Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 21998
16Anticholesteremic AgentsPhase 22025
17Angiotensin Receptor AntagonistsPhase 21191
18AntimetabolitesPhase 212054
19Angiotensin II Type 1 Receptor BlockersPhase 21091
20Vitamin B2NutraceuticalPhase 2174
21
Cyclophosphamideapproved, investigational293550-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Anhydrous cyclophosphamide
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
 
DB00531
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
22
Enalaprilatapproved12476420-72-96917719
Synonyms:
(2S)-1-[(2S)-2-[[(2S)-1-hydroxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid
(2S)-1-[(2S)-2-[[(2S)-1-hydroxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid dihydrate
1-((2S)-2-{[(1S)-1-CARBOXY-3-PHENYLPROPYL]AMINO}PROPANOYL)-L-PROLINE
1-(N-((S)-1-Carboxy-3-phenylpropyl)-L-alanyl)-L-proline dihydrate
76420-72-9
AC1NUWEA
AC1OCEK7
BIDD:GT0752
C11720
C18H24N2O5.2H2O
CHEBI:116759
CHEBI:42302
CHEBI:4786
CHEBI:59877
CHEMBL1200697
CHEMBL577
CID5462501
CID6917719
CPD000466359
D03769
EAL
ENALAPRILAT INHIBITOR
Enalapril acid
Enalapril diacid
Enalaprilat
Enalaprilat (USP)
 
Enalaprilat anhydrous
Enalaprilate
Enalaprilatum
Enalaprilic acid
Enalprilate hydrate
HMS2051H16
HMS2089P04
LS-118903
LS-187219
MK-422
MLS000759476
MLS001424138
MolPort-005-943-792
N-[(1S)-1-Carboxy-3-phenylpropyl]-L-alanyl-L-proline
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline--water (1/2)
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline—water (1/2)
NCGC00164593-01
S1657_Selleck
SAM001246684
SBB065733
SMR000466359
Vasotec I.V.
enalaprilat dihydrate
enalaprilat hydrate
enalprilat hydrate
enalprilate hydrate
23
Enalaprilapproved, vet_approved12475847-73-35362032, 40466924
Synonyms:
(2S)-1-[(2S)-2-[[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid
(S)-1-(N-(1-(Ethoxycarbonyl)-3-phenylpropyl)-L-alanyl)-L-proline
(S)-1-{(S)-2-[1-((S)-ethoxycarbonyl)-3-phenyl-propylamino]-propionyl}-pyrrolidine-2-carboxylic acid
1-(N-((S)-1-Carboxy-3-phenylpropyl)-L-alanyl)-L-proline 1'-ethyl ester
75847-73-3
AC1NTUS5
Analapril
BIDD:GT0751
BPBio1_000340
BSPBio_000308
BSPBio_003035
Bonuten
C06977
CAS-76095-16-4
CHEBI:116847
CHEBI:4784
CHEMBL578
CID5388962
D07892
DivK1c_000408
Enalapril
Enalapril (INN)
Enalapril (TN)
Enalapril Bp
Enalapril Maleate
Enalapril Richet
Enalaprila
Enalaprila [INN-Spanish]
Enalaprilat
Enalaprilum
 
Enalaprilum [INN-Latin]
Gadopril
HMS2090E08
IDI1_000408
KBio1_000408
KBio2_001787
KBio2_004355
KBio2_006923
KBio3_002535
KBioGR_000355
KBioSS_001787
Kinfil
LS-190651
MolPort-002-885-877
N-[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]-L-alanyl-L-proline
N-{(1S)-1-[(ethyloxy)carbonyl]-3-phenylpropyl}-L-alanyl-L-proline
NCGC00016932-01
NCGC00021569-04
NCGC00021569-05
NCGC00021569-06
NINDS_000408
Prestwick3_000314
SPBio_001349
Spectrum2_001455
Spectrum3_001478
Spectrum4_000008
Spectrum5_001107
Spectrum_001307
Vaseretic
Vasotec
Vasotec IV
enalapril
24
Spironolactoneapproved2321952-01-7, 52-01-75833
Synonyms:
4-18-00-01601 (Beilstein Handbook Reference)
4-Pregnen-21-oic acid-17alpha-ol-3-one-7alpha-thiol gamma-lactone 7-acetate
496916-40-6
52-01-7
7-alpha-Acetylthio-3-oxo-17-alpha-pregn-4-ene-21,17-beta-carbolactone
7alpha-(acetylsulfanyl)-3-oxo-17alpha-pregn-4-ene-21,17-carbolactone
AB00513806
AC-4214
AC1L1L8Q
Abbolactone
Acelat
Aldace
Aldactazide
Aldactide
Aldactone
Aldactone (TN)
Aldactone A
Alderon
Aldopur
Almatol
Alphapharm Brand of Spironolactone
Alpharma Brand of Spironolactone
Alter Brand of Spironolactone
Altex
Aquareduct
Ashbourne Brand of Spironolactone
Azupharma Brand of Spironolactone
BIDD:PXR0071
BPBio1_000194
BRD-K90027355-001-03-4
BRN 0057767
BSPBio_000176
C07310
C24H32O4S
CHEBI:428201
CHEBI:45692
CHEBI:9241
CHEMBL1393
CID5833
CPD000471892
Cardel Brand of Spironolactone
D00443
D013148
DB00421
Deverol
Dexo Brand of Spironolactone
Diatensec
Dira
Duraspiron
EINECS 200-133-6
Espironolactona
Espironolactona Alter
Espironolactona Mundogen
Espironolactona [INN-Spanish]
Euteberol
Flumach
Frumikal
Generosan Brand of Spironolactone
HMS1568I18
HMS2090N21
HSDB 3184
Hormosan Brand of Spironolactone
I06-1970
Jenapharm Brand of Spironolactone
Jenaspiron
LS-118614
LT00772287
Lacalmin
Lacdene
Laractone
MLS001074672
MLS001333253
MLS001333254
MLS002153245
MLS002207058
Mayoly-Spindler Brand of Spironolactone
Melarcon
Merck dura Brand of Spironolactone
Mundogen Brand of Spironolactone
NCGC00164397-01
 
NCGC00164397-02
NSC 150399
NSC150399
Nefurofan
Novo Spiroton
Novo-Spiroton
NovoSpiroton
Novopharm Brand of Spironolactone
Osyrol
Pfizer Brand of Spironolactone
Pharmafrid Brand of Spironolactone
Practon
Prestwick0_000128
Prestwick1_000128
Prestwick2_000128
Prestwick3_000128
Roche Brand of Spironolactone
S0260
S3378_SIGMA
SAM002264648
SC 9420
SC-9420
SC9420
SMR000471892
SNL
SPBio_002115
Sagisal
Searle Brand of Spironolactone
Sincomen
Spiractin
Spiresis
Spiretic
Spiridon
Spiro L.U.T.
Spiro(17H-cyclopenta(a)phenauthrene-17,2'-(3'H)-furan)
Spiro-Tablinen
Spiro[17H-cyclopenta[a]phenauthrene-17,2'-(3'H)-furan]
Spirobeta
Spiroctan
Spiroctanie
Spiroderm
Spirogamma
Spirolactone
Spirolakton
Spirolang
Spirolone
Spirone
Spirono Isis
Spirono-Isis
Spironocompren
Spironolactone
Spironolactone (JP15/USP/INN)
Spironolactone A
Spironolactone [BAN:INN:JAN]
Spironolactone [INN:BAN:JAN]
Spironolactonum
Spironolactonum [INN-Latin]
Spironolattone
Spironolattone [DCIT]
Spironone
Spirospare
Sprioderm
Supra-puren
Suracton
UNII-27O7W4T232
Uractone
Urusonin
Veroshpiron
Verospiron
Verospirone
Verospirone Opianin
WLN: L E5 B666 FX OV MUTJ A1 E1 KSV1 F-& CT5VOXTJ
Worwag Brand of Spironolactone
Xenalon
ZINC03861599
betapharm Brand of Spironolactone
ct Arzneimittel Brand of Spironolactone
ct-Arzneimittel Brand of Spironolactone
spiro von ct
spironolactone
spironolattone
von ct, spiro
25Antineoplastic Agents, Alkylating4603
26Immunosuppressive Agents13086
27Alkylating Agents4827
28Antirheumatic Agents10956
29Mineralocorticoids367
30Natriuretic Agents1697
31Mineralocorticoid Receptor Antagonists346
32Hormones14415
33diuretics1418
34Diuretics, Potassium Sparing1917
35Hormone Antagonists13180
36Hormones, Hormone Substitutes, and Hormone Antagonists13168

Interventional clinical trials:

(show all 18)
idNameStatusNCT IDPhase
1A Phase 2/3 Trial of the Efficacy and Safety of Bardoxolone Methyl in Patients With Alport Syndrome - CARDINALRecruitingNCT03019185Phase 2, Phase 3
2Efficacy and Safety Study to Delay Renal Failure in Children With Alport SyndromeRecruitingNCT01485978Phase 3
3Effects of an Intensified Treatment With ACE-I,ATA II and Statins in Alport SyndromeCompletedNCT00309257Phase 2
4Study of Weekly RG-012 Injections in Patients With Alport SyndromeActive, not recruitingNCT02855268Phase 2
5Aluminum and Auditory Function in ESRDUnknown statusNCT00243958
6Cyclophosphamide in Lupus NephritisUnknown statusNCT00441220
7A Prospective Study of Microalbuminuria in Untreated Boys With Alport SyndromeCompletedNCT00622544
8Urinary Biomarkers of the Progression of Alport Kidney DiseaseCompletedNCT01705132
9Enalapril in Collagen Type 4 NephropathyCompletedNCT01465126
10Hereditary Tubulointerstitial NephritisCompletedNCT01312727
11ATHENA: Natural History of Disease Study in Alport Syndrome PatientsRecruitingNCT02136862
12Alport Syndrome Treatments and Outcomes RegistryRecruitingNCT00481130
13Biomarker for Patient With Alport Disease or Highly Suspected for Alport DiseaseRecruitingNCT02718027
14European Alport Therapy Registry - European Initiative Towards Delaying Renal Failure in Alport SyndromeRecruitingNCT02378805
15Urine, DNA and Clinical Information Collection From Patients With Alport Nephropathy.RecruitingNCT03074357
16Genetic Causes of FSGS, Nephrotic Syndrome, or Kidney FailureRecruitingNCT02194582
17Multi-center Controlled Clinical Trials in Alport Syndrome-A Feasibility StudyActive, not recruitingNCT01696253
18Human Urine Sample Collection for Alport Nephropathy Biomarker StudiesTerminatedNCT01602835

Search NIH Clinical Center for Alport Syndrome


Cochrane evidence based reviews: nephritis, hereditary

Genetic Tests for Alport Syndrome

About this section

Genetic tests related to Alport Syndrome:

id Genetic test Affiliating Genes
1 Alport Syndrome27

Anatomical Context for Alport Syndrome

About this section

MalaCards organs/tissues related to Alport Syndrome:

36
Kidney, Eye, Testes, Skin, Smooth muscle, Colon, Bone

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

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

Publications for Alport Syndrome

About this section

Articles related to Alport Syndrome:

(show top 50)    (show all 546)
idTitleAuthorsYear
1
Alport syndrome: facts and opinions. (28163907)
2017
2
Long-term treatment with EGFR inhibitor erlotinib attenuates renal inflammatory cytokines but not nephropathy in Alport syndrome mouse model. (28176019)
2017
3
ANCA vasculitis in a patient with Alport syndrome: a difficult diagnosis but a treatable disease! (28356090)
2017
4
Female Patient with Alport Syndrome and Concomitant Membranous Nephropathy: Susceptibility or Association of Two Diseases? (28245485)
2017
5
Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis. (28275241)
2017
6
Murine recombinant angiotensin-converting enzyme 2 attenuates kidney injury in experimentalA Alport syndrome. (28249676)
2017
7
Outcomes of kidney transplantation in Alport syndrome compared with other forms of renal disease. (27917694)
2017
8
Alport syndrome: ACE2 administration slows kidney damage. (28287108)
2017
9
Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy. (26809805)
2016
10
Long-term treatment by ACE inhibitors and angiotensin receptor blockers in children with Alport syndrome. (26248473)
2016
11
Toric multifocal intraocular lens implantation in a case of bilateral anterior and posterior lenticonus in Alport syndrome. (27958211)
2016
12
A Novel Splicing Mutation Identified in a Chinese Family with X-linked Alport Syndrome Using Targeted Next-Generation Sequencing. (26866448)
2016
13
A Novel Mutation in a Japanese Family with X-linked Alport Syndrome. (27725546)
2016
14
COL4A6 is dispensable for autosomal recessive Alport syndrome. (27377778)
2016
15
Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome. (28013382)
2016
16
Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing. (27934798)
2016
17
Capsulorhexis tearing pattern during phacoemulsification in anterior lenticonus due to Alport syndrome. (26692055)
2016
18
Prospective study on the potential of RAAS blockade to halt renal disease in Alport syndrome patients with heterozygous mutations. (27402170)
2016
19
New mutation in 2 pediatric patients with Alport syndrome. Prognostic significance of genotype. (27743723)
2016
20
Female X-linked Alport syndrome with somatic mosaicism. (27796712)
2016
21
Alport syndrome: impact of digenic inheritance in patients management. (27859054)
2016
22
Reply to: Cataract surgery in patients with Alport syndrome. (26951527)
2016
23
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations. (27627812)
2016
24
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome. (27190345)
2016
25
Cataract surgery in patients with Alport syndrome. (26951528)
2016
26
Bull's eye and pigment maculopathy are further retinal manifestations of an abnormal Bruch's membrane in Alport syndrome. (27485810)
2016
27
AJKD Atlas of Renal Pathology: Alport Syndrome. (27664477)
2016
28
Simultaneous adult polycystic kidney disease and Alport syndrome. (27436620)
2016
29
An Overlapping Case of Alport Syndrome and Thin Basement Membrane Disease. (27635185)
2016
30
RAAS inhibition and the course of Alport syndrome. (26995302)
2016
31
The Transition from Thin Basement Membranes to Typical Alport Syndrome Morphology in Children. (27410722)
2016
32
Alport syndrome and pregnancy: Good obstetric and nephrological outcomes in a pregnant woman with homozygous autosomal recessive Alport syndrome. (26628290)
2016
33
Alport Syndrome in Women and Girls. (27287265)
2016
34
Familial focal segmental glomerulosclerosis: mutation in inverted formin 2 mimicking Alport syndrome. (26951353)
2016
35
Albumin contributes to kidney disease progression in Alport syndrome. (27147675)
2016
36
Early RAAS Blockade Exerts Renoprotective Effects in Autosomal Recessive Alport Syndrome. (27904025)
2016
37
Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome. (27281700)
2016
38
Podocyte Depletion in Thin GBM and Alport Syndrome. (27192434)
2016
39
Human Chorionic Stem Cells: Podocyte Differentiation and Potential for the Treatment of Alport Syndrome. (26728561)
2016
40
Collagen IV diseases: A focus on the glomerular basement membrane in Alport syndrome. (27576055)
2016
41
Contact lens fitting in a patient with Alport syndrome and posterior polymorphous corneal dystrophy: a case report. (26840166)
2016
42
Low-dose Spinal Block With Continuous Epidural Infusion for Renal Transplantation in a Patient With Alport Syndrome: A Case Report. (27932148)
2016
43
Two Pregnancies with a Different Outcome in a Patient with Alport Syndrome. (27703570)
2016
44
Crescentic and necrotising glomerulonephritis: a rare histological manifestation of Alport syndrome. (25869794)
2015
45
Extensive preoperative workup in diffuse esophageal leiomyomatosis associated with Alport syndrome influences surgical treatment: A case report. (25863991)
2015
46
X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene. (26581810)
2015
47
Generation of induced pluripotent stem cells from renal tubular cells of a patient with Alport syndrome. (26345127)
2015
48
Pregnancy outcomes in patients with Alport syndrome. (26411580)
2015
49
Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life. (26201269)
2015
50
Preclinical Alterations in the Serum of COL(IV)A3(-)/(-) Mice as Early Biomarkers of Alport Syndrome. (26487288)
2015

Variations for Alport Syndrome

About this section

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

70 (show all 145)
id Symbol AA change Variation ID SNP ID
1COL4A5p.Gly54AspVAR_001914rs104886043
2COL4A5p.Gly129GluVAR_001915rs281874723
3COL4A5p.Gly129ValVAR_001916rs281874723
4COL4A5p.Gly174ArgVAR_001917rs104886055
5COL4A5p.Gly177ArgVAR_001918rs104886056
6COL4A5p.Gly216ArgVAR_001919rs104886067
7COL4A5p.Gly219SerVAR_001920rs104886075
8COL4A5p.Gly289ValVAR_001921rs104886450
9COL4A5p.Gly292ValVAR_001922rs104886078
10COL4A5p.Gly325GluVAR_001923rs104886091
11COL4A5p.Gly325ArgVAR_001924rs104886088
12COL4A5p.Gly365GluVAR_001925rs104886096
13COL4A5p.Gly371GluVAR_001927rs104886097
14COL4A5p.Gly374AlaVAR_001928rs104886108
15COL4A5p.Gly383AspVAR_001929rs104886105
16COL4A5p.Gly400GluVAR_001930rs104886107
17COL4A5p.Gly406ValVAR_001931rs104886100
18COL4A5p.Gly409AspVAR_001932rs104886101
19COL4A5p.Gly466GluVAR_001936rs104886114
20COL4A5p.Gly494AspVAR_001937rs104886118
21COL4A5p.Gly521CysVAR_001939rs104886121
22COL4A5p.Gly521SerVAR_001940rs104886121
23COL4A5p.Gly567AlaVAR_001941rs104886137
24COL4A5p.Gly609ValVAR_001942rs104886140
25COL4A5p.Gly638ValVAR_001943rs104886134
26COL4A5p.Gly638AlaVAR_001944rs104886134
27COL4A5p.Gly653ArgVAR_001945rs104886150
28COL4A5p.Gly684ValVAR_001947rs104886160
29COL4A5p.Gly740GluVAR_001948rs104886165
30COL4A5p.Gly772AspVAR_001949rs104886173
31COL4A5p.Gly796ArgVAR_001950rs104886177
32COL4A5p.Gly852ArgVAR_001951rs104886186
33COL4A5p.Gly866GluVAR_001952rs104886188
34COL4A5p.Gly869ArgVAR_001953rs104886189
35COL4A5p.Gly872ArgVAR_001954rs104886190
36COL4A5p.Gly1104ValVAR_001956rs104886224
37COL4A5p.Gly1143AspVAR_001957rs104886229
38COL4A5p.Gly1143SerVAR_001958rs104886228
39COL4A5p.Gly1182ArgVAR_001959rs104886242
40COL4A5p.Gly1241CysVAR_001960rs104886255
41COL4A5p.Gly1270SerVAR_001961rs104886257
42COL4A5p.Gly1379ValVAR_001962rs104886269
43COL4A5p.Arg1410CysVAR_001963rs104886270
44COL4A5p.Gly1421TrpVAR_001964rs104886272
45COL4A5p.Arg1422CysVAR_001965rs144282156
46COL4A5p.Gly1451SerVAR_001966rs104886280
47COL4A5p.Ala1498AspVAR_001967rs104886284
48COL4A5p.Pro1517ThrVAR_001968rs201220208
49COL4A5p.Trp1538SerVAR_001969rs104886293
50COL4A5p.Arg1563GlnVAR_001970rs281874743
51COL4A5p.Cys1564SerVAR_001971rs104886287
52COL4A5p.Gly1596AspVAR_001972rs104886297
53COL4A5p.Leu1649ArgVAR_001973rs104886303
54COL4A5p.Arg1677GlnVAR_001974rs104886308
55COL4A5p.Gly114SerVAR_007991
56COL4A5p.Gly331ValVAR_007992rs104886092
57COL4A5p.Gly472ArgVAR_007993rs104886116
58COL4A5p.Gly545ArgVAR_007994rs104886126
59COL4A5p.Gly545ValVAR_007995rs104886127
60COL4A5p.Gly561ArgVAR_007996rs104886136
61COL4A5p.Gly579ArgVAR_007997rs104886139
62COL4A5p.Gly635AspVAR_007998rs281874683
63COL4A5p.Gly638SerVAR_007999rs104886147
64COL4A5p.Gly669AlaVAR_008000rs104886151
65COL4A5p.Gly687GluVAR_008001rs104886168
66COL4A5p.Gly743AspVAR_008002rs104886166
67COL4A5p.Gly808GluVAR_008003rs104886180
68COL4A5p.Gly852GluVAR_008005rs104886187
69COL4A5p.Gly878ArgVAR_008006
70COL4A5p.Gly1107ArgVAR_008008rs104886225
71COL4A5p.Gly1161ArgVAR_008009rs104886235
72COL4A5p.Gly1211ArgVAR_008010rs104886246
73COL4A5p.Gly1220AspVAR_008011rs104886251
74COL4A5p.Gly1333SerVAR_008012rs104886266
75COL4A5p.Gly1427ValVAR_008013rs104886274
76COL4A5p.Gly1442AspVAR_008014rs104886277
77COL4A5p.Gly1486AlaVAR_008015rs104886282
78COL4A5p.Gly177CysVAR_011220rs104886056
79COL4A5p.Gly192ArgVAR_011221rs104886060
80COL4A5p.Gly204ValVAR_011222rs104886063
81COL4A5p.Gly230ArgVAR_011223rs104886076
82COL4A5p.Gly239GluVAR_011224rs104886068
83COL4A5p.Gly264ArgVAR_011225rs104886069
84COL4A5p.Gly292ArgVAR_011226rs104886073
85COL4A5p.Gly295AspVAR_011227rs104886079
86COL4A5p.Gly298SerVAR_011228rs104886080
87COL4A5p.Gly319ArgVAR_011229rs104886085
88COL4A5p.Gly412ValVAR_011230rs104886102
89COL4A5p.Gly415ArgVAR_011231rs104886103
90COL4A5p.Gly420GluVAR_011232rs281874663
91COL4A5p.Gly420ValVAR_011233
92COL4A5p.Gly423GluVAR_011234rs104886110
93COL4A5p.Gly491GluVAR_011235rs104886117
94COL4A5p.Gly497CysVAR_011236rs104886120
95COL4A5p.Gly524AspVAR_011237rs104886119
96COL4A5p.Gly558ArgVAR_011238rs104886129
97COL4A5p.Gly573AspVAR_011239rs104886138
98COL4A5p.Gly579GluVAR_011240rs104886130
99COL4A5p.Gly603ValVAR_011241rs104886133
100COL4A5p.Gly609ArgVAR_011242rs104886135
101COL4A5p.Gly621CysVAR_011244rs104886141
102COL4A5p.Gly624AspVAR_011245rs104886142
103COL4A5p.Gly629AspVAR_011246rs104886144
104COL4A5p.Gly632AspVAR_011247rs104886145
105COL4A5p.Glu633LysVAR_011248rs104886146
106COL4A5p.Gly681AspVAR_011249rs104886158
107COL4A5p.Gly722GluVAR_011250rs104886163
108COL4A5p.Pro739SerVAR_011252rs104886164
109COL4A5p.Gly802ArgVAR_011253rs104886179
110COL4A5p.Gly811ValVAR_011255rs104886183
111COL4A5p.Gly822ArgVAR_011256rs104886184
112COL4A5p.Met898ValVAR_011258rs104886192
113COL4A5p.Gly902ValVAR_011259
114COL4A5p.Gly911GluVAR_011260rs104886363
115COL4A5p.Gly941CysVAR_011261rs104886196
116COL4A5p.Gly947AspVAR_011262rs104886370
117COL4A5p.Gly953ValVAR_011263rs78972735
118COL4A5p.Gly1006AlaVAR_011264
119COL4A5p.Gly1006ValVAR_011265rs104886202
120COL4A5p.Gly1015GluVAR_011266
121COL4A5p.Gly1015ValVAR_011267rs104886211
122COL4A5p.Gly1030SerVAR_011268rs104886210
123COL4A5p.Gly1036ValVAR_011269rs104886212
124COL4A5p.Gly1039SerVAR_011270rs104886214
125COL4A5p.Gly1045GluVAR_011271rs104886215
126COL4A5p.Gly1066ArgVAR_011272rs104886219
127COL4A5p.Gly1066SerVAR_011273rs104886219
128COL4A5p.Gly1086AspVAR_011274rs104886232
129COL4A5p.Gly1158ArgVAR_011275
130COL4A5p.Gly1167SerVAR_011276rs104886236
131COL4A5p.Gly1170SerVAR_011277rs104886237
132COL4A5p.Gly1196ArgVAR_011278rs104886244
133COL4A5p.Gly1205CysVAR_011279rs104886245
134COL4A5p.Gly1211GluVAR_011280rs104886247
135COL4A5p.Gly1229AspVAR_011281rs104886253
136COL4A5p.Gly1244AspVAR_011282rs104886261
137COL4A5p.Gly1252SerVAR_011283rs104886262
138COL4A5p.Gly1261GluVAR_011284rs104886264
139COL4A5p.Gly1357SerVAR_011285rs104886267
140COL4A5p.Ser1488PheVAR_011287rs104886283
141COL4A5p.Arg1511HisVAR_011288rs104886285
142COL4A5p.Cys1567ArgVAR_011289rs104886288
143COL4A5p.Arg1677ProVAR_011290rs104886308
144COL4A5p.Cys1678TrpVAR_011291rs104886311
145COL4A5p.Gly123GluVAR_071932

Clinvar genetic disease variations for Alport Syndrome:

5 (show all 622)
id Gene Variation Type Significance SNP ID Assembly Location
1COL4A5COL4A5, EX5-10DELdeletionPathogenic
2COL4A5COL4A5, CYS108SERSNVPathogenic
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)SNVPathogenicrs104886229GRCh37Chr X, 107908791: 107908791
7COL4A5COL4A5, 3-PRIME AND PARTIAL 5-PRIME DELETIONdeletionPathogenic
8COL4A5NM_ 000495.4(COL4A5): c.1561G> T (p.Gly521Cys)SNVPathogenicrs104886121GRCh37Chr X, 107840272: 107840272
9COL4A5NM_ 000495.4(COL4A5): c.974G> A (p.Gly325Glu)SNVPathogenicrs104886091GRCh37Chr X, 107826151: 107826151
10COL4A5NM_ 000495.4(COL4A5): c.161G> A (p.Gly54Asp)SNVPathogenicrs104886043GRCh37Chr X, 107802313: 107802313
11COL4A5NM_ 000495.4(COL4A5): c.4946T> G (p.Leu1649Arg)SNVPathogenicrs104886303GRCh37Chr X, 107938639: 107938639
12COL4A5NM_ 000495.4(COL4A5): c.5030G> A (p.Arg1677Gln)SNVPathogenicrs104886308GRCh37Chr X, 107939580: 107939580
13COL4A5NM_ 000495.4(COL4A5): c.1844G> A (p.Gly615Glu)SNVPathogenicrs794727397GRCh37Chr X, 107841996: 107841996
14COL4A5NM_ 000495.4(COL4A5): c.3998-1G> ASNVPathogenicrs797045035GRCh37Chr X, 107924114: 107924114
15COL4A5NM_ 033380.2(COL4A5): c.1780-1G> TSNVPathogenicrs104886338GRCh37Chr X, 107841931: 107841931
16COL4A5NM_ 033380.2(COL4A5): c.1033-6A> GSNVLikely pathogenicrs869025330GRCh37Chr X, 107829839: 107829839
17COL4A5NM_ 033380.2(COL4A5): c.2395+1G> ASNVPathogenicrs869025331GRCh37Chr X, 107850123: 107850123
18COL4A5NM_ 033380.2(COL4A5): c.2741G> A (p.Gly914Asp)SNVPathogenicrs869025332GRCh37Chr X, 107865096: 107865096
19COL4A5NM_ 033380.2(COL4A5): c.82G> T (p.Ala28Ser)SNVPathogenicrs869025333GRCh37Chr X, 107782976: 107782976
20COL4A5NM_ 033380.2(COL4A5): c.1010G> T (p.Gly337Val)SNVPathogenicrs869025334GRCh37Chr X, 107827733: 107827733
21COL4A5NM_ 000495.4(COL4A5): c.81+1G> CSNVPathogenicrs281874765GRCh37Chr X, 107683437: 107683437
22COL4A5NM_ 000495.4(COL4A5): c.1542_ 1543delAG (p.Glu516Lysfs)deletionPathogenicrs104886333GRCh37Chr X, 107840253: 107840254
23COL4A5NM_ 000495.4(COL4A5): c.(?_ -202)-1738_ (81_ ?)deldeletionPathogenicGRCh38Chr X, 108438186: 108440206
24COL4A5NM_ 033380.2(COL4A5): c.(?_ -129378)_ (81_ ?)del (p.?)deletionPathogenicGRCh38Chr X, 108310748: 108440206
25COL4A5NM_ 000495.3(COL4A5): c.1-?_ 81+?deldeletionPathogenic
26COL4A5NM_ 000495.4(COL4A5): c.(?_ -202)-1738_ (81_ ?)deldeletionPathogenicGRCh38Chr X, 108438186: 108440206
27COL4A5NM_ 000495.4(COL4A5): c.(?_ -202)-1738_ (81_ ?)deldeletionPathogenicGRCh37Chr X, 107681416: 107683436
28COL4A5NM_ 000495.4(COL4A5): c.(?_ -202)-1738_ (81_ ?)deldeletionPathogenicGRCh38Chr X, 108438186: 108440206
29COL4A5NM_ 000495.4(COL4A5): c.1A> G (p.Met1Val)SNVPathogenicrs104886050GRCh37Chr X, 107683356: 107683356
30COL4A5NP_ 203699.1: p.?deletionPathogenic
31COL4A5NP_ 203699.1: p.?deletionPathogenic
32COL4A5NP_ 203699.1: p.?deletionPathogenic
33COL4A5NP_ 203699.1: p.?deletionPathogenic
34COL4A5NP_ 203699.1: p.?deletionPathogenic
35COL4A5NP_ 203699.1: p.?deletionPathogenic
36COL4A5NP_ 203699.1: p.?deletionPathogenic
37COL4A5NM_ 000495.3(COL4A5): c.1-?_ 5058+?deldeletionPathogenic
38COL4A5NM_ 000495.4(COL4A5): c.2_ 3delTG (p.Met1Lysfs)deletionPathogenicrs104886376GRCh37Chr X, 107683357: 107683358
39COL4A5NM_ 000495.4(COL4A5): c.13G> T (p.Gly5Ter)SNVPathogenicrs104886049GRCh37Chr X, 107683368: 107683368
40COL4A5NM_ 000495.4(COL4A5): c.38_ 41dupTCTT (p.Leu14Phefs)duplicationPathogenicrs104886408GRCh37Chr X, 107683393: 107683396
41COL4A5NM_ 000495.4(COL4A5): c.49_ 50delCT (p.Leu17Glufs)deletionPathogenicrs104886427GRCh37Chr X, 107683404: 107683405
42COL4A5NM_ 000495.4(COL4A5): c.65_ 77delAGCCTGCAGAGGC (p.Gln22Leufs)deletionPathogenicrs281874760GRCh37Chr X, 107683420: 107683432
43COL4A5NP_ 203699.1: p.Ala28_ Lys1082dupduplicationPathogenic
44COL4A5NM_ 000495.4(COL4A5): c.82-?_ 465+?deldeletionPathogenic
45COL4A5NM_ 000495.4(COL4A5): c.82-?_ 1165+?deldeletionPathogenicGRCh37Chr X, 107782976: 107829977
46COL4A5NM_ 000495.4(COL4A5): c.82-?_ 3246+?deldeletionPathogenicGRCh37Chr X, 107782976: 107869579
47COL4A5NM_ 000495.4(COL4A5): c.82-?_ 3373+?deldeletionPathogenicGRCh37Chr X, 107683437: 107908736
48COL4A5NM_ 033380.2(COL4A5): c.1690G> C (p.Gly564Arg)SNVLikely pathogenicrs281874674GRCh37Chr X, 107840709: 107840709
49COL4A5COL4A5: c.82-?_ 141+?del (p.Ala28_ Lys47del)deletionPathogenicGRCh37Chr X, 107683437: 107802293
50COL4A5NM_ 000495.4(COL4A5): c.87C> A (p.Cys29Ter)SNVPathogenicrs104886048GRCh37Chr X, 107782981: 107782981
51COL4A5NM_ 000495.4(COL4A5): c.90T> G (p.Tyr30Ter)SNVPathogenicrs104886047GRCh37Chr X, 107782984: 107782984
52COL4A5NM_ 000495.4(COL4A5): c.119delG (p.Cys40Serfs)deletionPathogenicrs104886042GRCh37Chr X, 107783013: 107783013
53COL4A5NM_ 000495.4(COL4A5): c.142-1G> ASNVPathogenicrs104886323GRCh37Chr X, 107802293: 107802293
54COL4A5NM_ 000495.4(COL4A5): c.142-?_ 3373+?deldeletionPathogenicGRCh37Chr X, 107783036: 107908736
55COL4A5NM_ 000495.4(COL4A5): c.142-?_ 2677+?deldeletionPathogenicGRCh37Chr X, 107783036: 107865032
56COL4A5NM_ 000495.4(COL4A5): c.142G> A (p.Gly48Arg)SNVPathogenicrs281874669GRCh37Chr X, 107802294: 107802294
57COL4A5NP_ 203699.1: p.Gly51fsinsertionPathogenic
58COL4A5COL4A5: c.142-?_ 231+?del(p.Gly48_ Lys77del)deletionPathogenicGRCh37Chr X, 107783036: 107807111
59COL4A5NM_ 000495.4(COL4A5): c.231+1G> ASNVPathogenicrs104886349GRCh37Chr X, 107802384: 107802384
60COL4A5NM_ 000495.4(COL4A5): c.232-1G> TSNVPathogenicrs104886350GRCh37Chr X, 107807111: 107807111
61COL4A5NM_ 000495.4(COL4A5): c.232-1G> ASNVPathogenicrs104886350GRCh37Chr X, 107807111: 107807111
62COL4A5NM_ 000495.4(COL4A5): c.232-?_ 2041+?deldeletionPathogenicGRCh38Chr X, 108559154: 108601884
63COL4A5NM_ 000495.4(COL4A5): c.232-?_ 780+?deldeletionPathogenicGRCh38Chr X, 108563881: 108578384
64COL4A5NM_ 000495.4(COL4A5): c.232-?_ 4510+?deldeletionPathogenicGRCh37Chr X, 107802384: 107935977
65COL4A5NM_ 000495.4(COL4A5): c.250delG (p.Pro85Hisfs)deletionPathogenicrs104886044GRCh37Chr X, 107807130: 107807130
66COL4A5NM_ 000495.4(COL4A5): c.276+5G> ASNVPathogenicrs104886365GRCh37Chr X, 107807161: 107807161
67COL4A5NM_ 000495.4(COL4A5): c.277-1G> TSNVPathogenicrs104886367GRCh37Chr X, 107811858: 107811858
68COL4A5NM_ 000495.4(COL4A5): c.277-?_ 609+?deldeletionPathogenic
69COL4A5NM_ 000495.4(COL4A5): c.286G> A (p.Gly96Arg)SNVPathogenicrs281874706GRCh37Chr X, 107811868: 107811868
70COL4A5NM_ 000495.4(COL4A5): c.293delC (p.Pro98Leufs)deletionPathogenicrs104886045GRCh37Chr X, 107811875: 107811875
71COL4A5NM_ 000495.4(COL4A5): c.322-1G> ASNVPathogenicrs104886375GRCh37Chr X, 107811988: 107811988
72COL4A5NM_ 000495.4(COL4A5): c.351_ 359delACCTCAAGG (p.Pro118_ Gly120del)deletionPathogenicrs104886390GRCh37Chr X, 107812018: 107812026
73COL4A5NM_ 000495.4(COL4A5): c.368delG (p.Gly123Aspfs)deletionPathogenicrs104886046GRCh37Chr X, 107812035: 107812035
74COL4A5NM_ 000495.4(COL4A5): c.385-719G> ASNVPathogenicrs104886396GRCh37Chr X, 107813924: 107813924
75COL4A5NM_ 000495.4(COL4A5): c.385-1G> CSNVPathogenicrs104886395GRCh37Chr X, 107814642: 107814642
76COL4A5NM_ 000495.4(COL4A5): c.385G> A (p.Gly129Arg)SNVPathogenicrs281874722GRCh37Chr X, 107814643: 107814643
77COL4A5NM_ 000495.4(COL4A5): c.386G> A (p.Gly129Glu)SNVPathogenicrs281874723GRCh37Chr X, 107814644: 107814644
78COL4A5NM_ 000495.4(COL4A5): c.386G> T (p.Gly129Val)SNVPathogenicrs281874723GRCh37Chr X, 107814644: 107814644
79COL4A5NM_ 000495.4(COL4A5): c.388G> T (p.Glu130Ter)SNVPathogenicrs104886051GRCh37Chr X, 107814646: 107814646
80COL4A5NM_ 000495.4(COL4A5): c.430G> A (p.Gly144Ser)SNVPathogenicrs104886052GRCh37Chr X, 107814688: 107814688
81COL4A5NM_ 000495.4(COL4A5): c.431G> A (p.Gly144Asp)SNVPathogenicrs281874737GRCh37Chr X, 107814689: 107814689
82COL4A5NM_ 000495.4(COL4A5): c.438+5G> ASNVPathogenicrs281874739GRCh37Chr X, 107814701: 107814701
83COL4A5NM_ 000495.4(COL4A5): c.440delG (p.Gly147Aspfs)deletionPathogenicrs104886053GRCh37Chr X, 107815042: 107815042
84COL4A5NM_ 000495.4(COL4A5): c.442dupC (p.Gly150Trpfs)duplicationPathogenicrs104886419GRCh37Chr X, 107815044: 107815044
85COL4A5NM_ 000495.4(COL4A5): c.446delC (p.Pro149Leufs)deletionPathogenicrs104886054GRCh37Chr X, 107815048: 107815048
86COL4A5NM_ 000495.4(COL4A5): c.466-17T> GSNVPathogenicrs104886415GRCh37Chr X, 107816787: 107816787
87COL4A5NM_ 000495.4(COL4A5): c.466-12G> ASNVPathogenicrs104886414GRCh37Chr X, 107816792: 107816792
88COL4A5NM_ 000495.4(COL4A5): c.466-2A> GSNVPathogenicrs104886416GRCh37Chr X, 107816802: 107816802
89COL4A5NM_ 000495.4(COL4A5): c.520G> C (p.Gly174Arg)SNVPathogenicrs104886055GRCh37Chr X, 107816858: 107816858
90COL4A5NM_ 000495.4(COL4A5): c.529G> T (p.Gly177Cys)SNVPathogenicrs104886056GRCh37Chr X, 107816867: 107816867
91COL4A5NM_ 000495.4(COL4A5): c.529G> C (p.Gly177Arg)SNVPathogenicrs104886056GRCh37Chr X, 107816867: 107816867
92COL4A5NM_ 000495.4(COL4A5): c.533delC (p.Pro178Leufs)deletionPathogenicrs104886058GRCh37Chr X, 107816871: 107816871
93COL4A5NM_ 000495.4(COL4A5): c.538G> A (p.Gly180Arg)SNVPathogenicrs281874755GRCh37Chr X, 107816876: 107816876
94COL4A5NP_ 203699.1: p.?deletionPathogenic
95COL4A5NM_ 000495.4(COL4A5): c.546+1G> ASNVPathogenicrs104886429GRCh37Chr X, 107816885: 107816885
96COL4A5NM_ 033380.2(COL4A5): c.546+3_ 546+4insT (p.?)insertionPathogenicrs104886430GRCh37Chr X, 107816887: 107816888
97COL4A5NM_ 000495.4(COL4A5): c.547-2A> GSNVPathogenicrs281874756GRCh37Chr X, 107819138: 107819138
98COL4A5NM_ 000495.4(COL4A5): c.547-1G> ASNVPathogenicrs104886431GRCh37Chr X, 107819139: 107819139
99COL4A5NM_ 000495.4(COL4A5): c.547dupG (p.Leu184Profs)duplicationPathogenicrs104886432GRCh37Chr X, 107819140: 107819140
100COL4A5NM_ 000495.4(COL4A5): c.548G> T (p.Gly183Val)SNVPathogenicrs104886059GRCh37Chr X, 107819141: 107819141
101COL4A5NM_ 000495.4(COL4A5): c.550dupC (p.Leu184Profs)duplicationPathogenicrs104886433GRCh37Chr X, 107819143: 107819143
102COL4A5NM_ 000495.4(COL4A5): c.574G> A (p.Gly192Arg)SNVPathogenicrs104886060GRCh37Chr X, 107819167: 107819167
103COL4A5NM_ 000495.4(COL4A5): c.584G> A (p.Gly195Asp)SNVPathogenicrs104886061GRCh37Chr X, 107819177: 107819177
104COL4A5NM_ 000495.4(COL4A5): c.593G> A (p.Gly198Glu)SNVPathogenicrs104886057GRCh37Chr X, 107819186: 107819186
105COL4A5NM_ 000495.4(COL4A5): c.602G> T (p.Gly201Val)SNVPathogenicrs104886062GRCh37Chr X, 107819195: 107819195
106COL4A5NM_ 000495.4(COL4A5): c.609+1G> ASNVPathogenicrs104886434GRCh37Chr X, 107819203: 107819203
107COL4A5NP_ 203699.1: p.?SNVPathogenic
108COL4A5NM_ 000495.4(COL4A5): c.610-2A> GSNVPathogenicrs281874758GRCh37Chr X, 107821180: 107821180
109COL4A5NM_ 000495.4(COL4A5): c.610_ 628del19 (p.Gly204Aspfs)deletionPathogenicrs104886435GRCh37Chr X, 107821182: 107821200
110COL4A5NM_ 000495.4(COL4A5): c.611G> A (p.Gly204Asp)SNVPathogenicrs104886063GRCh37Chr X, 107821183: 107821183
111COL4A5NM_ 000495.4(COL4A5): c.611G> T (p.Gly204Val)SNVPathogenicrs104886063GRCh37Chr X, 107821183: 107821183
112COL4A5NM_ 000495.4(COL4A5): c.611_ 612delGC (p.Gly204Alafs)deletionPathogenicrs281874759GRCh37Chr X, 107821183: 107821184
113COL4A5NM_ 000495.4(COL4A5): c.634delC (p.Pro212Glnfs)deletionPathogenicrs104886065GRCh37Chr X, 107821206: 107821206
114COL4A5NM_ 000495.4(COL4A5): c.638G> A (p.Gly213Glu)SNVPathogenicrs104886066GRCh37Chr X, 107821210: 107821210
115COL4A5NM_ 000495.4(COL4A5): c.646-12_ 646-11delTTdeletionPathogenicrs104886436GRCh37Chr X, 107821296: 107821297
116COL4A5NM_ 000495.4(COL4A5): c.646-3C> ASNVPathogenicrs104886437GRCh37Chr X, 107821305: 107821305
117COL4A5NM_ 000495.4(COL4A5): c.646G> A (p.Gly216Arg)SNVPathogenicrs104886067GRCh37Chr X, 107821308: 107821308
118COL4A5NM_ 000495.4(COL4A5): c.647G> T (p.Gly216Val)SNVPathogenicrs104886074GRCh37Chr X, 107821309: 107821309
119COL4A5NM_ 000495.4(COL4A5): c.647_ 648dupGG (p.Asn217Glyfs)duplicationPathogenicrs104886438GRCh37Chr X, 107821309: 107821310
120COL4A5NM_ 000495.4(COL4A5): c.648dupG (p.Asn217Glufs)duplicationPathogenicrs104886438GRCh37Chr X, 107821310: 107821310
121COL4A5NM_ 000495.4(COL4A5): c.655G> A (p.Gly219Ser)SNVPathogenicrs104886075GRCh37Chr X, 107821317: 107821317
122COL4A5NM_ 000495.4(COL4A5): c.687+1G> ASNVPathogenicrs104886440GRCh37Chr X, 107821350: 107821350
123COL4A5NM_ 000495.4(COL4A5): c.688-3C> GSNVPathogenicrs104886441GRCh37Chr X, 107821518: 107821518
124COL4A5NM_ 000495.4(COL4A5): c.688G> C (p.Gly230Arg)SNVPathogenicrs104886076GRCh37Chr X, 107821521: 107821521
125COL4A5NM_ 000495.4(COL4A5): c.689delG (p.Gly230Valfs)deletionPathogenicrs104886077GRCh37Chr X, 107821522: 107821522
126COL4A5NM_ 000495.4(COL4A5): c.689G> A (p.Gly230Asp)SNVPathogenicrs281874763GRCh37Chr X, 107821522: 107821522
127COL4A5NM_ 000495.4(COL4A5): c.716G> A (p.Gly239Glu)SNVPathogenicrs104886068GRCh37Chr X, 107821549: 107821549
128COL4A5NM_ 000495.4(COL4A5): c.761_ 762delAG (p.Glu254Valfs)deletionPathogenicrs104886443GRCh37Chr X, 107821594: 107821595
129COL4A5NM_ 000495.4(COL4A5): c.780+2T> GSNVPathogenicrs104886444GRCh37Chr X, 107821615: 107821615
130COL4A5NM_ 033380.3(COL4A5): c.781-1_ 786delGGGACTT (p.?)deletionPathogenicrs104886445GRCh37Chr X, 107823762: 107823768
131COL4A5NP_ 203699.1: p.?deletionPathogenic
132COL4A5NM_ 000495.4(COL4A5): c.781-?_ 1423+?deldeletionPathogenic
133COL4A5NM_ 000495.4(COL4A5): c.790G> C (p.Gly264Arg)SNVPathogenicrs104886069GRCh37Chr X, 107823772: 107823772
134COL4A5NM_ 000495.4(COL4A5): c.791G> A (p.Gly264Asp)SNVPathogenicrs104886070GRCh37Chr X, 107823773: 107823773
135COL4A5NM_ 000495.4(COL4A5): c.796C> T (p.Arg266Ter)SNVPathogenicrs104886071GRCh37Chr X, 107823778: 107823778
136COL4A5NM_ 000495.4(COL4A5): c.812delC (p.Pro271Leufs)deletionPathogenicrs104886072GRCh37Chr X, 107823794: 107823794
137COL4A5NM_ 000495.4(COL4A5): c.834+1G> ASNVPathogenicrs104886446GRCh37Chr X, 107823817: 107823817
138COL4A5NM_ 000495.4(COL4A5): c.834+5G> TSNVPathogenicrs104886442GRCh37Chr X, 107823821: 107823821
139COL4A5NM_ 000495.4(COL4A5): c.859G> T (p.Glu287Ter)SNVPathogenicrs104886447GRCh37Chr X, 107823936: 107823936
140COL4A5NM_ 000495.4(COL4A5): c.866G> T (p.Gly289Val)SNVPathogenicrs104886450GRCh37Chr X, 107823943: 107823943
141COL4A5NM_ 000495.4(COL4A5): c.866delG (p.Gly289Valfs)deletionPathogenicrs281874766GRCh37Chr X, 107823943: 107823943
142COL4A5NM_ 000495.4(COL4A5): c.873delA (p.Gly292Glufs)deletionPathogenicrs281874767GRCh37Chr X, 107823950: 107823950
143COL4A5NM_ 000495.4(COL4A5): c.874G> C (p.Gly292Arg)SNVPathogenicrs104886073GRCh37Chr X, 107823951: 107823951
144COL4A5NM_ 000495.4(COL4A5): c.875G> T (p.Gly292Val)SNVPathogenicrs104886078GRCh37Chr X, 107823952: 107823952
145COL4A5NM_ 000495.4(COL4A5): c.875delG (p.Gly292Glufs)deletionPathogenicrs281874768GRCh37Chr X, 107823952: 107823952
146COL4A5NM_ 000495.4(COL4A5): c.884G> A (p.Gly295Asp)SNVPathogenicrs104886079GRCh37Chr X, 107823961: 107823961
147COL4A5NM_ 000495.4(COL4A5): c.891+1G> ASNVPathogenicrs104886451GRCh37Chr X, 107823969: 107823969
148COL4A5NM_ 000495.4(COL4A5): c.892-2A> GSNVPathogenicrs104886453GRCh37Chr X, 107824211: 107824211
149COL4A5NM_ 000495.4(COL4A5): c.892-1G> CSNVPathogenicrs104886452GRCh37Chr X, 107824212: 107824212
150COL4A5NM_ 000495.4(COL4A5): c.892G> A (p.Gly298Ser)SNVPathogenicrs104886080GRCh37Chr X, 107824213: 107824213
151COL4A5NM_ 000495.4(COL4A5): c.913G> T (p.Glu305Ter)SNVPathogenicrs104886081GRCh37Chr X, 107824234: 107824234
152COL4A5NM_ 000495.4(COL4A5): c.920G> A (p.Gly307Asp)SNVPathogenicrs104886082GRCh37Chr X, 107824241: 107824241
153COL4A5NM_ 000495.4(COL4A5): c.928G> A (p.Gly310Arg)SNVPathogenicrs104886083GRCh37Chr X, 107824249: 107824249
154COL4A5NM_ 000495.4(COL4A5): c.937-1G> ASNVPathogenicrs104886448GRCh37Chr X, 107826113: 107826113
155COL4A5NM_ 000495.4(COL4A5): c.937-?_ 990+?del (p.Gly313_ Lys330del)deletionPathogenicGRCh37Chr X, 107826114: 107826167
156COL4A5NM_ 000495.4(COL4A5): c.937G> A (p.Gly313Ser)SNVPathogenicrs104886084GRCh37Chr X, 107826114: 107826114
157COL4A5NM_ 000495.4(COL4A5): c.945dupT (p.Gly316Trpfs)duplicationPathogenicrs104886449GRCh37Chr X, 107826122: 107826122
158COL4A5NM_ 000495.4(COL4A5): c.955G> C (p.Gly319Arg)SNVPathogenicrs104886085GRCh37Chr X, 107826132: 107826132
159COL4A5NM_ 000495.4(COL4A5): c.956G> A (p.Gly319Asp)SNVPathogenicrs104886086GRCh37Chr X, 107826133: 107826133
160COL4A5NM_ 000495.4(COL4A5): c.960C> A (p.Tyr320Ter)SNVPathogenicrs281874769GRCh37Chr X, 107826137: 107826137
161COL4A5NM_ 000495.4(COL4A5): c.973G> A (p.Gly325Arg)SNVPathogenicrs104886088GRCh37Chr X, 107826150: 107826150
162COL4A5NM_ 000495.4(COL4A5): c.973G> T (p.Gly325Ter)SNVPathogenicrs104886088GRCh37Chr X, 107826150: 107826150
163COL4A5NM_ 000495.4(COL4A5): c.992G> T (p.Gly331Val)SNVPathogenicrs104886092GRCh37Chr X, 107827715: 107827715
164COL4A5NM_ 000495.4(COL4A5): c.1001G> T (p.Gly334Val)SNVPathogenicrs104886093GRCh37Chr X, 107827724: 107827724
165COL4A5NM_ 000495.4(COL4A5): c.1032+3_ 1032+6delAAGTdeletionPathogenicrs104886314GRCh37Chr X, 107827758: 107827761
166COL4A5NM_ 000495.4(COL4A5): c.1032+5G> TSNVPathogenicrs104886315GRCh37Chr X, 107827760: 107827760
167COL4A5NM_ 000495.4(COL4A5): c.1033-?_ 1516+?deldeletionPathogenic
168COL4A5NM_ 000495.4(COL4A5): c.1060dupA (p.Thr354Asnfs)duplicationPathogenicrs281874655GRCh37Chr X, 107829872: 107829872
169COL4A5NM_ 000495.4(COL4A5): c.1062dupT (p.Ile355Tyrfs)duplicationPathogenicrs104886316GRCh37Chr X, 107829874: 107829874
170COL4A5NM_ 000495.4(COL4A5): c.1074delA (p.Gly359Glufs)deletionPathogenicrs104886095GRCh37Chr X, 107829886: 107829886
171COL4A5NM_ 000495.4(COL4A5): c.1084G> A (p.Gly362Arg)SNVPathogenicrs281874656GRCh37Chr X, 107829896: 107829896
172COL4A5NM_ 000495.4(COL4A5): c.1094G> A (p.Gly365Glu)SNVPathogenicrs104886096GRCh37Chr X, 107829906: 107829906
173COL4A5NM_ 000495.4(COL4A5): c.1112G> A (p.Gly371Glu)SNVPathogenicrs104886097GRCh37Chr X, 107829924: 107829924
174COL4A5NM_ 000495.4(COL4A5): c.1117C> T (p.Arg373Ter)SNVPathogenicrs104886094GRCh37Chr X, 107829929: 107829929
175COL4A5NM_ 000495.4(COL4A5): c.1121G> C (p.Gly374Ala)SNVPathogenicrs104886108GRCh37Chr X, 107829933: 107829933
176COL4A5NM_ 000495.4(COL4A5): c.1139G> A (p.Gly380Asp)SNVPathogenicrs104886098GRCh37Chr X, 107829951: 107829951
177COL4A5NM_ 000495.4(COL4A5): c.1148G> A (p.Gly383Asp)SNVPathogenicrs104886105GRCh37Chr X, 107829960: 107829960
178COL4A5NM_ 000495.4(COL4A5): c.1165+1G> ASNVPathogenicrs104886317GRCh37Chr X, 107829978: 107829978
179COL4A5NM_ 000495.4(COL4A5): c.1165+2T> GSNVPathogenicrs104886324GRCh37Chr X, 107829979: 107829979
180COL4A5NM_ 000495.4(COL4A5): c.1166-?_ 1423+?deldeletionPathogenic
181COL4A5NM_ 000495.4(COL4A5): c.1166-?_ 1516+?deldeletionPathogenic
182COL4A5NM_ 000495.4(COL4A5): c.1166-?_ 2041+?deldeletionPathogenic
183COL4A5NM_ 000495.4(COL4A5): c.1181delG (p.Gly394Valfs)deletionPathogenicrs281874658GRCh37Chr X, 107834303: 107834303
184COL4A5NM_ 000495.4(COL4A5): c.1199G> A (p.Gly400Glu)SNVPathogenicrs104886107GRCh37Chr X, 107834321: 107834321
185COL4A5NM_ 000495.4(COL4A5): c.1208G> T (p.Gly403Val)SNVPathogenicrs104886099GRCh37Chr X, 107834330: 107834330
186COL4A5NM_ 000495.4(COL4A5): c.1213dupA (p.Arg405Lysfs)duplicationPathogenicrs281874659GRCh37Chr X, 107834335: 107834335
187COL4A5NM_ 000495.4(COL4A5): c.1214_ 1215insA (p.Gln407Serfs)insertionPathogenicrs104886325GRCh37Chr X, 107834336: 107834337
188COL4A5NP_ 203699.1: p.Gly406fsinsertionPathogenic
189COL4A5NM_ 000495.4(COL4A5): c.1217G> T (p.Gly406Val)SNVPathogenicrs104886100GRCh37Chr X, 107834339: 107834339
190COL4A5NM_ 000495.4(COL4A5): c.1219C> T (p.Gln407Ter)SNVPathogenicrs281874661GRCh37Chr X, 107834341: 107834341
191COL4A5NM_ 000495.4(COL4A5): c.1222A> T (p.Lys408Ter)SNVPathogenicrs281874662GRCh37Chr X, 107834344: 107834344
192COL4A5NM_ 000495.4(COL4A5): c.1226G> A (p.Gly409Asp)SNVPathogenicrs104886101GRCh37Chr X, 107834348: 107834348
193COL4A5NM_ 000495.4(COL4A5): c.1235G> T (p.Gly412Val)SNVPathogenicrs104886102GRCh37Chr X, 107834357: 107834357
194COL4A5NM_ 000495.4(COL4A5): c.1243G> A (p.Gly415Arg)SNVPathogenicrs104886103GRCh37Chr X, 107834365: 107834365
195COL4A5NM_ 000495.4(COL4A5): c.1254delT (p.Pro419Leufs)deletionPathogenicrs104886104GRCh37Chr X, 107834376: 107834376
196COL4A5NM_ 000495.4(COL4A5): c.1259G> A (p.Gly420Glu)SNVPathogenicrs281874663GRCh37Chr X, 107834381: 107834381
197COL4A5NM_ 000495.4(COL4A5): c.1265delC (p.Pro422Leufs)deletionPathogenicrs104886109GRCh37Chr X, 107834387: 107834387
198COL4A5NM_ 000495.4(COL4A5): c.1268G> A (p.Gly423Glu)SNVPathogenicrs104886110GRCh37Chr X, 107834390: 107834390
199COL4A5NM_ 000495.4(COL4A5): c.1276G> A (p.Gly426Arg)SNVPathogenicrs104886111GRCh37Chr X, 107834398: 107834398
200COL4A5NM_ 000495.4(COL4A5): c.1280dupA (p.Pro428Alafs)duplicationPathogenicrs104886327GRCh37Chr X, 107834402: 107834402
201COL4A5NM_ 000495.4(COL4A5): c.1286G> A (p.Gly429Glu)SNVPathogenicrs104886112GRCh37Chr X, 107834408: 107834408
202COL4A5NP_ 203699.1: p.Ala430fsduplicationPathogenic
203COL4A5NM_ 000495.4(COL4A5): c.1294G> A (p.Gly432Arg)SNVPathogenicrs281874664GRCh37Chr X, 107834416: 107834416
204COL4A5NM_ 000495.4(COL4A5): c.1340-2A> GSNVPathogenicrs104886319GRCh37Chr X, 107834789: 107834789
205COL4A5NM_ 000495.4(COL4A5): c.1350_ 1351delAT (p.Ile450Metfs)deletionPathogenicrs104886320GRCh37Chr X, 107834801: 107834802
206COL4A51567del9deletionPathogenic
207COL4A5NM_ 000495.4(COL4A5): c.1371_ 1379delCCCCCCAGG (p.Pro458_ Gly460del)deletionPathogenicrs104886321GRCh37Chr X, 107834822: 107834830
208COL4A5NM_ 000495.4(COL4A5): c.1376delC (p.Pro459Glnfs)deletionPathogenicrs104886113GRCh37Chr X, 107834827: 107834827
209COL4A5NM_ 000495.4(COL4A5): c.1376dupC (p.Gly460Argfs)duplicationPathogenicrs281874666GRCh37Chr X, 107834827: 107834827
210COL4A5NM_ 000495.4(COL4A5): c.1397G> A (p.Gly466Glu)SNVPathogenicrs104886114GRCh37Chr X, 107834848: 107834848
211COL4A5NM_ 000495.4(COL4A5): c.1406G> A (p.Gly469Glu)SNVPathogenicrs104886115GRCh37Chr X, 107834857: 107834857
212COL4A5NM_ 000495.4(COL4A5): c.1414G> A (p.Gly472Arg)SNVPathogenicrs104886116GRCh37Chr X, 107834865: 107834865
213COL4A5NM_ 000495.4(COL4A5): c.1423G> A (p.Gly475Ser)SNVPathogenicrs281874667GRCh37Chr X, 107834874: 107834874
214COL4A5NM_ 000495.4(COL4A5): c.1423+1G> ASNVPathogenicrs104886312GRCh37Chr X, 107834875: 107834875
215COL4A5NP_ 203699.1: p.?insertionPathogenic
216COL4A5NM_ 000495.4(COL4A5): c.1424-20T> ASNVPathogenicrs281874668GRCh37Chr X, 107838719: 107838719
217COL4A5NM_ 000495.4(COL4A5): c.1424-1G> ASNVPathogenicrs104886329GRCh37Chr X, 107838738: 107838738
218COL4A5NP_ 203699.1: p.?deletionPathogenic
219COL4A5NM_ 000495.4(COL4A5): c.1472G> A (p.Gly491Glu)SNVPathogenicrs104886117GRCh37Chr X, 107838787: 107838787
220COL4A5NM_ 000495.4(COL4A5): c.1481G> A (p.Gly494Asp)SNVPathogenicrs104886118GRCh37Chr X, 107838796: 107838796
221COL4A51685del36deletionPathogenic
222COL4A5NM_ 000495.4(COL4A5): c.1489G> T (p.Gly497Cys)SNVPathogenicrs104886120GRCh37Chr X, 107838804: 107838804
223COL4A5NM_ 000495.4(COL4A5): c.1498G> C (p.Gly500Arg)SNVPathogenicrs281874670GRCh37Chr X, 107838813: 107838813
224COL4A5NM_ 000495.4(COL4A5): c.1516+1G> ASNVPathogenicrs104886331GRCh37Chr X, 107838832: 107838832
225COL4A5NM_ 000495.4(COL4A5): c.1517-1G> TSNVPathogenicrs104886332GRCh37Chr X, 107840227: 107840227
226COL4A5NM_ 000495.4(COL4A5): c.1562G> A (p.Gly521Asp)SNVPathogenicrs104886122GRCh37Chr X, 107840273: 107840273
227COL4A5NM_ 000495.4(COL4A5): c.1566delA (p.Thr523Leufs)deletionPathogenicrs104886123GRCh37Chr X, 107840277: 107840277
228COL4A5NM_ 000495.4(COL4A5): c.1571G> A (p.Gly524Asp)SNVPathogenicrs104886119GRCh37Chr X, 107840282: 107840282
229COL4A5NP_ 203699.1: p.Leu528fsdeletionPathogenicGRCh37Chr X, 107840292: 107840615
230COL4A5NM_ 000495.4(COL4A5): c.1587+1delGdeletionPathogenicrs104886124GRCh37Chr X, 107840299: 107840299
231COL4A5NM_ 000495.4(COL4A5): c.1587+1G> ASNVPathogenicrs104886313GRCh37Chr X, 107840299: 107840299
232COL4A5NM_ 000495.4(COL4A5): c.1598G> A (p.Gly533Glu)SNVPathogenicrs281874672GRCh37Chr X, 107840617: 107840617
233COL4A5NM_ 000495.4(COL4A5): c.1607G> A (p.Gly536Asp)SNVPathogenicrs104886125GRCh37Chr X, 107840626: 107840626
234COL4A5NM_ 000495.4(COL4A5): c.1633G> C (p.Gly545Arg)SNVPathogenicrs104886126GRCh37Chr X, 107840652: 107840652
235COL4A5NM_ 000495.4(COL4A5): c.1634G> T (p.Gly545Val)SNVPathogenicrs104886127GRCh37Chr X, 107840653: 107840653
236COL4A5NM_ 000495.4(COL4A5): c.1643G> A (p.Gly548Asp)SNVPathogenicrs281874673GRCh37Chr X, 107840662: 107840662
237COL4A5NM_ 000495.4(COL4A5): c.1653delC (p.Thr552Leufs)deletionPathogenicrs104886128GRCh37Chr X, 107840672: 107840672
238COL4A5NM_ 000495.4(COL4A5): c.1672G> C (p.Gly558Arg)SNVPathogenicrs104886129GRCh37Chr X, 107840691: 107840691
239COL4A5NM_ 000495.4(COL4A5): c.1681G> A (p.Gly561Arg)SNVPathogenicrs104886136GRCh37Chr X, 107840700: 107840700
240COL4A5NM_ 000495.4(COL4A5): c.1690G> T (p.Gly564Cys)SNVPathogenicrs281874674GRCh37Chr X, 107840709: 107840709
241COL4A5NM_ 000495.4(COL4A5): c.1700G> C (p.Gly567Ala)SNVPathogenicrs104886137GRCh37Chr X, 107840719: 107840719
242COL4A5NM_ 000495.4(COL4A5): c.1718G> A (p.Gly573Asp)SNVPathogenicrs104886138GRCh37Chr X, 107840737: 107840737
243COL4A5NM_ 000495.4(COL4A5): c.1726G> A (p.Gly576Ser)SNVPathogenicrs281874675GRCh37Chr X, 107840745: 107840745
244COL4A5NM_ 000495.4(COL4A5): c.1735G> A (p.Gly579Arg)SNVPathogenicrs104886139GRCh37Chr X, 107840754: 107840754
245COL4A5NM_ 000495.4(COL4A5): c.1736G> A (p.Gly579Glu)SNVPathogenicrs104886130GRCh37Chr X, 107840755: 107840755
246COL4A5NM_ 000495.4(COL4A5): c.1738C> T (p.Gln580Ter)SNVPathogenicrs281874676GRCh37Chr X, 107840757: 107840757
247COL4A5NM_ 000495.4(COL4A5): c.1739_ 1948+98deldeletionPathogenicrs104886336GRCh37Chr X, 107840758: 107842198
248COL4A5NM_ 000495.4(COL4A5): c.1757_ 1770delTTCCTGGCCCGAAA (p.Leu586Argfs)deletionPathogenicrs281874678GRCh37Chr X, 107840776: 107840789
249COL4A5NM_ 000495.4(COL4A5): c.1779+1G> TSNVPathogenicrs104886337GRCh37Chr X, 107840799: 107840799
250COL4A5NM_ 000495.4(COL4A5): c.1779+3G> CSNVPathogenicrs281874679GRCh37Chr X, 107840801: 107840801
251COL4A5NM_ 000495.4(COL4A5): c.1780-1G> ASNVPathogenicrs104886338GRCh37Chr X, 107841931: 107841931
252COL4A5NM_ 000495.4(COL4A5): c.1780G> A (p.Gly594Ser)SNVPathogenicrs104886131GRCh37Chr X, 107841932: 107841932
253COL4A5NM_ 000495.4(COL4A5): c.1783G> A (p.Gly595Arg)SNVPathogenicrs104886132GRCh37Chr X, 107841935: 107841935
254COL4A5NM_ 000495.4(COL4A5): c.1808G> T (p.Gly603Val)SNVPathogenicrs104886133GRCh37Chr X, 107841960: 107841960
255COL4A5NM_ 000495.4(COL4A5): c.1825G> C (p.Gly609Arg)SNVPathogenicrs104886135GRCh37Chr X, 107841977: 107841977
256COL4A5NM_ 000495.4(COL4A5): c.1826G> T (p.Gly609Val)SNVPathogenicrs104886140GRCh37Chr X, 107841978: 107841978
257COL4A5NM_ 000495.4(COL4A5): c.1856C> T (p.Pro619Leu)SNVPathogenicrs281874681GRCh37Chr X, 107842008: 107842008
258COL4A5NM_ 000495.4(COL4A5): c.1861G> T (p.Gly621Cys)SNVPathogenicrs104886141GRCh37Chr X, 107842013: 107842013
259COL4A5NM_ 000495.4(COL4A5): c.1871G> A (p.Gly624Asp)SNVPathogenicrs104886142GRCh37Chr X, 107842023: 107842023
260COL4A5NM_ 000495.4(COL4A5): c.1877G> C (p.Gly626Ala)SNVPathogenicrs104886143GRCh37Chr X, 107842029: 107842029
261COL4A5NM_ 000495.4(COL4A5): c.1886G> A (p.Gly629Asp)SNVPathogenicrs104886144GRCh37Chr X, 107842038: 107842038
262COL4A5NM_ 000495.4(COL4A5): c.1895G> A (p.Gly632Asp)SNVPathogenicrs104886145GRCh37Chr X, 107842047: 107842047
263COL4A5NM_ 000495.4(COL4A5): c.1897G> A (p.Glu633Lys)SNVPathogenicrs104886146GRCh37Chr X, 107842049: 107842049
264COL4A5NM_ 000495.4(COL4A5): c.1904G> A (p.Gly635Asp)SNVPathogenicrs281874683GRCh37Chr X, 107842056: 107842056
265COL4A5NM_ 000495.4(COL4A5): c.1912G> A (p.Gly638Ser)SNVPathogenicrs104886147GRCh37Chr X, 107842064: 107842064
266COL4A5NM_ 000495.4(COL4A5): c.1913G> C (p.Gly638Ala)SNVPathogenicrs104886134GRCh37Chr X, 107842065: 107842065
267COL4A5NM_ 000495.4(COL4A5): c.1913G> T (p.Gly638Val)SNVPathogenicrs104886134GRCh37Chr X, 107842065: 107842065
268COL4A5NM_ 000495.4(COL4A5): c.1948+1G> ASNVPathogenicrs104886339GRCh37Chr X, 107842101: 107842101
269COL4A5NM_ 000495.4(COL4A5): c.1949-?_ 3373+?deldeletionPathogenicGRCh37Chr X, 107842101: 107908736
270COL4A5NM_ 000495.4(COL4A5): c.1957G> A (p.Gly653Arg)SNVPathogenicrs104886150GRCh37Chr X, 107844631: 107844631
271COL4A5NM_ 000495.4(COL4A5): c.1960delG (p.Asp654Ilefs)deletionPathogenicrs104886152GRCh37Chr X, 107844634: 107844634
272COL4A5NM_ 000495.4(COL4A5): c.1997G> A (p.Gly666Asp)SNVPathogenicrs104886153GRCh37Chr X, 107844671: 107844671
273COL4A5NM_ 000495.4(COL4A5): c.2005G> C (p.Gly669Arg)SNVPathogenicrs281874684GRCh37Chr X, 107844679: 107844679
274COL4A5NM_ 000495.4(COL4A5): c.2006G> C (p.Gly669Ala)SNVPathogenicrs104886151GRCh37Chr X, 107844680: 107844680
275COL4A5NM_ 000495.4(COL4A5): c.2018delG (p.Arg673Lysfs)deletionPathogenicrs104886156GRCh37Chr X, 107844692: 107844692
276COL4A5NM_ 000495.4(COL4A5): c.2023G> A (p.Gly675Ser)SNVPathogenicrs104886157GRCh37Chr X, 107844697: 107844697
277COL4A5NM_ 000495.4(COL4A5): c.2041+1G> TSNVPathogenicrs104886340GRCh37Chr X, 107844716: 107844716
278COL4A5NM_ 000495.4(COL4A5): c.2042-18A> GSNVPathogenicrs104886341GRCh37Chr X, 107845097: 107845097
279COL4A5NM_ 000495.4(COL4A5): c.2042G> A (p.Gly681Asp)SNVPathogenicrs104886158GRCh37Chr X, 107845115: 107845115
280COL4A5NM_ 000495.4(COL4A5): c.2050G> T (p.Gly684Ter)SNVPathogenicrs104886159GRCh37Chr X, 107845123: 107845123
281COL4A5NM_ 000495.4(COL4A5): c.2051G> T (p.Gly684Val)SNVPathogenicrs104886160GRCh37Chr X, 107845124: 107845124
282COL4A5NM_ 000495.4(COL4A5): c.2057delC (p.Pro686Glnfs)deletionPathogenicrs104886167GRCh37Chr X, 107845130: 107845130
283COL4A5NM_ 000495.4(COL4A5): c.2060G> A (p.Gly687Glu)SNVPathogenicrs104886168GRCh37Chr X, 107845133: 107845133
284COL4A5NM_ 000495.4(COL4A5): c.2062_ 2114dup53 (p.Ile706Asnfs)duplicationPathogenicrs104886342GRCh37Chr X, 107845135: 107845187
285COL4A5NM_ 000495.4(COL4A5): c.2098G> T (p.Glu700Ter)SNVPathogenicrs104886169GRCh37Chr X, 107845171: 107845171
286COL4A5NM_ 000495.4(COL4A5): c.2146G> C (p.Gly716Arg)SNVPathogenicrs104886161GRCh37Chr X, 107845219: 107845219
287COL4A5NM_ 000495.4(COL4A5): c.2146+3A> CSNVPathogenicrs104886343GRCh37Chr X, 107845222: 107845222
288COL4A5NM_ 000495.4(COL4A5): c.2147-3C> GSNVPathogenicrs104886345GRCh37Chr X, 107846191: 107846191
289COL4A5NM_ 000495.4(COL4A5): c.2147-2A> GSNVPathogenicrs104886344GRCh37Chr X, 107846192: 107846192
290COL4A5NM_ 000495.4(COL4A5): c.2147delG (p.Gly716Alafs)deletionPathogenicrs104886162GRCh37Chr X, 107846194: 107846194
291COL4A5NM_ 000495.4(COL4A5): c.2147-?_ 2767+?dup621duplicationPathogenicGRCh37Chr X, 107845220: 107865905
292COL4A5NM_ 000495.4(COL4A5): c.2155G> C (p.Gly719Arg)SNVPathogenicrs281874686GRCh37Chr X, 107846202: 107846202
293COL4A5NM_ 000495.4(COL4A5): c.2165G> A (p.Gly722Glu)SNVPathogenicrs104886163GRCh37Chr X, 107846212: 107846212
294COL4A5NM_ 000495.4(COL4A5): c.2206_ 2226del21 (p.Glu736_ Pro742del)deletionPathogenicrs104886346GRCh37Chr X, 107846253: 107846273
295COL4A5NM_ 000495.4(COL4A5): c.2215C> T (p.Pro739Ser)SNVPathogenicrs104886164GRCh37Chr X, 107846262: 107846262
296COL4A5NM_ 000495.4(COL4A5): c.2219G> A (p.Gly740Glu)SNVPathogenicrs104886165GRCh37Chr X, 107846266: 107846266
297COL4A5NM_ 000495.4(COL4A5): c.2228G> A (p.Gly743Asp)SNVPathogenicrs104886166GRCh37Chr X, 107846275: 107846275
298COL4A5NM_ 000495.4(COL4A5): c.2244+1G> TSNVPathogenicrs281874688GRCh37Chr X, 107846292: 107846292
299COL4A5NM_ 000495.4(COL4A5): c.2244+2T> GSNVPathogenicrs104886347GRCh37Chr X, 107846293: 107846293
300COL4A5NM_ 000495.4(COL4A5): c.2245-1G> ASNVPathogenicrs104886348GRCh37Chr X, 107849971: 107849971
301COL4A5NM_ 000495.4(COL4A5): c.2287G> A (p.Gly763Arg)SNVPathogenicrs104886171GRCh37Chr X, 107850014: 107850014
302COL4A5NM_ 000495.4(COL4A5): c.2288G> A (p.Gly763Glu)SNVPathogenicrs281874689GRCh37Chr X, 107850015: 107850015
303COL4A5NM_ 000495.4(COL4A5): c.2297G> A (p.Gly766Asp)SNVPathogenicrs104886172GRCh37Chr X, 107850024: 107850024
304COL4A5NM_ 000495.4(COL4A5): c.2305G> A (p.Gly769Arg)SNVPathogenicrs281874690GRCh37Chr X, 107850032: 107850032
305COL4A5NM_ 000495.4(COL4A5): c.2315G> A (p.Gly772Asp)SNVPathogenicrs104886173GRCh37Chr X, 107850042: 107850042
306COL4A5NM_ 000495.4(COL4A5): c.2315G> C (p.Gly772Ala)SNVPathogenicrs104886173GRCh37Chr X, 107850042: 107850042
307COL4A5NM_ 000495.4(COL4A5): c.2322dupA (p.Gly775Argfs)duplicationPathogenicrs104886351GRCh37Chr X, 107850049: 107850049
308COL4A5NM_ 000495.4(COL4A5): c.2332G> A (p.Gly778Ser)SNVPathogenicrs104886174GRCh37Chr X, 107850059: 107850059
309COL4A5NM_ 000495.4(COL4A5): c.2348delC (p.Pro783Argfs)deletionPathogenicrs104886175GRCh37Chr X, 107850075: 107850075
310COL4A5NM_ 000495.4(COL4A5): c.2360G> T (p.Gly787Val)SNVPathogenicrs104886176GRCh37Chr X, 107850087: 107850087
311COL4A5NM_ 000495.4(COL4A5): c.2386G> A (p.Gly796Arg)SNVPathogenicrs104886177GRCh37Chr X, 107850113: 107850113
312COL4A5NM_ 000495.4(COL4A5): c.2394A> G (p.Lys798=)SNVPathogenicrs281874691GRCh37Chr X, 107850121: 107850121
313COL4A5NM_ 000495.4(COL4A5): c.2395+2delTdeletionPathogenicrs104886178GRCh37Chr X, 107850124: 107850124
314COL4A5NP_ 203699.1: p.?SNVPathogenic
315COL4A52606-2623deldeletionPathogenic
316COL4A5NM_ 000495.4(COL4A5): c.2404G> A (p.Gly802Arg)SNVPathogenicrs104886179GRCh37Chr X, 107858149: 107858149
317COL4A5NM_ 000495.4(COL4A5): c.2423G> A (p.Gly808Glu)SNVPathogenicrs104886180GRCh37Chr X, 107858168: 107858168
318COL4A5NM_ 000495.4(COL4A5): c.2431G> A (p.Gly811Arg)SNVPathogenicrs104886182GRCh37Chr X, 107858176: 107858176
319COL4A5NM_ 000495.4(COL4A5): c.2432G> T (p.Gly811Val)SNVPathogenicrs104886183GRCh37Chr X, 107858177: 107858177
320COL4A5NP_ 203699.1: p.Ile818fsindelPathogenic
321COL4A5NM_ 000495.4(COL4A5): c.2464G> C (p.Gly822Arg)SNVPathogenicrs104886184GRCh37Chr X, 107858209: 107858209
322COL4A5NM_ 000495.4(COL4A5): c.2473G> T (p.Gly825Ter)SNVPathogenicrs281874692GRCh37Chr X, 107858218: 107858218
323COL4A5NM_ 000495.4(COL4A5): c.2475_ 2483delACCACCAGG (p.Pro826_ Gly828del)deletionPathogenicrs104886356GRCh37Chr X, 107858220: 107858228
324COL4A5NM_ 000495.4(COL4A5): c.2476delC (p.Pro826Hisfs)deletionPathogenicrs281874694GRCh37Chr X, 107858221: 107858221
325COL4A5NM_ 000495.4(COL4A5): c.2500G> C (p.Gly834Arg)SNVPathogenicrs281874696GRCh37Chr X, 107858245: 107858245
326COL4A5NM_ 000495.4(COL4A5): c.2509G> ASNVPathogenicrs104886185GRCh37Chr X, 107858254: 107858254
327COL4A5NM_ 000495.4(COL4A5): c.2510-33A> GSNVPathogenicrs104886358GRCh37Chr X, 107863456: 107863456
328COL4A5NM_ 000495.4(COL4A5): c.2510delG (p.Gly837Valfs)deletionPathogenicrs104886181GRCh37Chr X, 107863489: 107863489
329COL4A5COL4A5: c.2510-?_ 2677+?del (p.Gly837_ Gly893delinsGly)deletionPathogenicGRCh37Chr X, 107863489: 107863656
330COL4A5NM_ 000495.4(COL4A5): c.2550_ 2573del24 (p.Leu853_ Gly860del)deletionPathogenicrs104886359GRCh37Chr X, 107863529: 107863552
331COL4A5NM_ 000495.4(COL4A5): c.2554G> A (p.Gly852Arg)SNVPathogenicrs104886186GRCh37Chr X, 107863533: 107863533
332COL4A5NM_ 000495.4(COL4A5): c.2555G> A (p.Gly852Glu)SNVPathogenicrs104886187GRCh37Chr X, 107863534: 107863534
333COL4A5NM_ 000495.4(COL4A5): c.2578G> C (p.Gly860Arg)SNVPathogenicrs281874697GRCh37Chr X, 107863557: 107863557
334COL4A52791del36deletionPathogenic
335COL4A5NM_ 000495.4(COL4A5): c.2595_ 2612del18 (p.Ile867_ Gly872del)deletionPathogenicrs104886355GRCh37Chr X, 107863574: 107863591
336COL4A5NM_ 000495.4(COL4A5): c.2597G> A (p.Gly866Glu)SNVPathogenicrs104886188GRCh37Chr X, 107863576: 107863576
337COL4A5NM_ 000495.4(COL4A5): c.2643delG (p.Leu882Phefs)deletionPathogenicrs104886200GRCh37Chr X, 107863622: 107863622
338COL4A5NM_ 000495.4(COL4A5): c.2605G> A (p.Gly869Arg)SNVPathogenicrs104886189GRCh37Chr X, 107863584: 107863584
339COL4A5NM_ 000495.4(COL4A5): c.2614G> C (p.Gly872Arg)SNVPathogenicrs104886190GRCh37Chr X, 107863593: 107863593
340COL4A5NM_ 000495.4(COL4A5): c.2624G> A (p.Gly875Glu)SNVPathogenicrs104886191GRCh37Chr X, 107863603: 107863603
341COL4A5NM_ 000495.4(COL4A5): c.2625delA (p.Pro876Leufs)deletionPathogenicrs104886198GRCh37Chr X, 107863604: 107863604
342COL4A5NM_ 000495.4(COL4A5): c.2633G> T (p.Gly878Val)SNVPathogenicrs104886199GRCh37Chr X, 107863612: 107863612
343COL4A5NM_ 000495.4(COL4A5): c.2659G> C (p.Gly887Arg)SNVPathogenicrs281874699GRCh37Chr X, 107863638: 107863638
344COL4A5NM_ 000495.4(COL4A5): c.2660G> T (p.Gly887Val)SNVPathogenicrs104886201GRCh37Chr X, 107863639: 107863639
345COL4A5NM_ 000495.4(COL4A5): c.2678-10T> GSNVPathogenicrs104886360GRCh37Chr X, 107865023: 107865023
346COL4A5NM_ 000495.4(COL4A5): c.2678-?_ 3246+?deldeletionPathogenic
347COL4A5NM_ 000495.4(COL4A5): c.2686delG (p.Gly896Valfs)deletionPathogenicrs281874700GRCh37Chr X, 107865041: 107865041
348COL4A5NM_ 000495.4(COL4A5): c.2692A> G (p.Met898Val)SNVPathogenicrs104886192GRCh37Chr X, 107865047: 107865047
349COL4A5NM_ 000495.4(COL4A5): c.2705G> A (p.Gly902Glu)SNVPathogenicrs104886361GRCh37Chr X, 107865060: 107865060
350COL4A5NM_ 000495.4(COL4A5): c.2708dupC (p.Pro904Serfs)duplicationPathogenicrs104886362GRCh37Chr X, 107865063: 107865063
351COL4A5NM_ 000495.4(COL4A5): c.2722G> A (p.Gly908Arg)SNVPathogenicrs281874703GRCh37Chr X, 107865077: 107865077
352COL4A5NM_ 000495.4(COL4A5): c.2731G> A (p.Gly911Arg)SNVPathogenicrs281874704GRCh37Chr X, 107865086: 107865086
353COL4A5NM_ 000495.4(COL4A5): c.2732G> A (p.Gly911Glu)SNVPathogenicrs104886363GRCh37Chr X, 107865087: 107865087
354COL4A5NP_ 203699.1: p.Ser916fsindelPathogenic
355COL4A5NM_ 000495.4(COL4A5): c.2746A> G (p.Ser916Gly)SNVPathogenicrs104886193GRCh37Chr X, 107865101: 107865101
356COL4A5NM_ 000495.4(COL4A5): c.2767+2delTdeletionPathogenicrs104886366GRCh37Chr X, 107865124: 107865124
357COL4A5NM_ 000495.4(COL4A5): c.2782C> T (p.Gln928Ter)SNVPathogenicrs281874705GRCh37Chr X, 107865920: 107865920
358COL4A5NM_ 000495.4(COL4A5): c.2788C> T (p.Gln930Ter)SNVPathogenicrs104886194GRCh37Chr X, 107865926: 107865926
359COL4A5NM_ 000495.4(COL4A5): c.2802dupT (p.Gly935Trpfs)duplicationPathogenicrs104886368GRCh37Chr X, 107865940: 107865940
360COL4A5NM_ 000495.4(COL4A5): c.2804G> A (p.Gly935Asp)SNVPathogenicrs104886195GRCh37Chr X, 107865942: 107865942
361COL4A5NM_ 000495.4(COL4A5): c.2821G> T (p.Gly941Cys)SNVPathogenicrs104886196GRCh37Chr X, 107865959: 107865959
362COL4A5NM_ 000495.4(COL4A5): c.2823_ 2825delTAG (p.Ser942del)deletionPathogenicrs104886369GRCh37Chr X, 107865961: 107865963
363COL4A5NM_ 000495.4(COL4A5): c.2840G> A (p.Gly947Asp)SNVPathogenicrs104886370GRCh37Chr X, 107865978: 107865978
364COL4A5NM_ 000495.4(COL4A5): c.2846delC (p.Pro949Glnfs)deletionPathogenicrs104886197GRCh37Chr X, 107865984: 107865984
365COL4A5NM_ 000495.4(COL4A5): c.2858G> T (p.Gly953Val)SNVPathogenicrs78972735GRCh37Chr X, 107865996: 107865996
366COL4A5NM_ 000495.4(COL4A5): c.2917+1G> CSNVPathogenicrs104886371GRCh37Chr X, 107866056: 107866056
367COL4A5NM_ 000495.4(COL4A5): c.2917+1G> TSNVPathogenicrs104886371GRCh37Chr X, 107866056: 107866056
368COL4A5NM_ 000495.4(COL4A5): c.2918-1G> TSNVPathogenicrs104886372GRCh37Chr X, 107867465: 107867465
369COL4A5NP_ 203699.1: p.Val977fsdeletionPathogenic
370COL4A5NM_ 000495.4(COL4A5): c.2943delA (p.Gly982Valfs)deletionPathogenicrs104886204GRCh37Chr X, 107867491: 107867491
371COL4A5NM_ 000495.4(COL4A5): c.2959_ 2976del18 (p.Asp989_ Gly994del)deletionPathogenicrs104886374GRCh38Chr X, 108624277: 108624294
372COL4A5NM_ 000495.4(COL4A5): c.2965delG (p.Asp989Thrfs)deletionPathogenicrs104886206GRCh37Chr X, 107867513: 107867513
373COL4A5NM_ 000495.4(COL4A5): c.3016+1G> TSNVPathogenicrs104886377GRCh37Chr X, 107867565: 107867565
374COL4A5NM_ 000495.4(COL4A5): c.3017-1G> ASNVPathogenicrs104886378GRCh37Chr X, 107868934: 107868934
375COL4A5NM_ 000495.4(COL4A5): c.3017G> T (p.Gly1006Val)SNVPathogenicrs104886202GRCh37Chr X, 107868935: 107868935
376COL4A5NM_ 000495.4(COL4A5): c.3044G> T (p.Gly1015Val)SNVPathogenicrs104886211GRCh37Chr X, 107868962: 107868962
377COL4A5NM_ 000495.4(COL4A5): c.3046C> T (p.Gln1016Ter)SNVPathogenicrs104886207GRCh37Chr X, 107868964: 107868964
378COL4A5NM_ 000495.4(COL4A5): c.3057delT (p.Ile1020Terfs)deletionPathogenicrs104886208GRCh37Chr X, 107868975: 107868975
379COL4A5NM_ 000495.4(COL4A5): c.3080G> T (p.Gly1027Val)SNVPathogenicrs104886209GRCh37Chr X, 107868998: 107868998
380COL4A5NM_ 000495.4(COL4A5): c.3088G> A (p.Gly1030Ser)SNVPathogenicrs104886210GRCh37Chr X, 107869006: 107869006
381COL4A5NP_ 203699.1: p.?deletionPathogenic
382COL4A5NM_ 000495.4(COL4A5): c.3107-2A> GSNVPathogenicrs104886379GRCh37Chr X, 107869438: 107869438
383COL4A5NM_ 000495.4(COL4A5): c.3107G> T (p.Gly1036Val)SNVPathogenicrs104886212GRCh37Chr X, 107869440: 107869440
384COL4A5NM_ 000495.4(COL4A5): c.3115G> A (p.Gly1039Ser)SNVPathogenicrs104886214GRCh37Chr X, 107869448: 107869448
385COL4A5NM_ 000495.4(COL4A5): c.3134G> A (p.Gly1045Glu)SNVPathogenicrs104886215GRCh37Chr X, 107869467: 107869467
386COL4A5NM_ 000495.4(COL4A5): c.3167delC (p.Pro1056Glnfs)deletionPathogenicrs281874711GRCh37Chr X, 107869500: 107869500
387COL4A5NM_ 000495.4(COL4A5): c.3169G> T (p.Gly1057Ter)SNVPathogenicrs104886216GRCh37Chr X, 107869502: 107869502
388COL4A5NM_ 000495.4(COL4A5): c.3178G> T (p.Gly1060Ter)SNVPathogenicrs104886217GRCh37Chr X, 107869511: 107869511
389COL4A5NM_ 000495.4(COL4A5): c.3181C> T (p.Gln1061Ter)SNVPathogenicrs104886213GRCh37Chr X, 107869514: 107869514
390COL4A5NM_ 000495.4(COL4A5): c.3188G> T (p.Gly1063Val)SNVPathogenicrs104886218GRCh37Chr X, 107869521: 107869521
391COL4A5NM_ 000495.4(COL4A5): c.3196G> C (p.Gly1066Arg)SNVPathogenicrs104886219GRCh37Chr X, 107869529: 107869529
392COL4A5NM_ 000495.4(COL4A5): c.3196G> A (p.Gly1066Ser)SNVPathogenicrs104886219GRCh37Chr X, 107869529: 107869529
393COL4A5NM_ 000495.4(COL4A5): c.3197G> C (p.Gly1066Ala)SNVPathogenicrs104886221GRCh37Chr X, 107869530: 107869530
394COL4A5NM_ 000495.4(COL4A5): c.3206G> T (p.Gly1069Val)SNVPathogenicrs281874712GRCh37Chr X, 107869539: 107869539
395COL4A5NM_ 000495.4(COL4A5): c.3212C> G (p.Ser1071Ter)SNVPathogenicrs104886222GRCh37Chr X, 107869545: 107869545
396COL4A5NM_ 000495.4(COL4A5): c.3247G> A (p.Gly1083Ser)SNVPathogenicrs104886223GRCh37Chr X, 107898561: 107898561
397COL4A5NM_ 000495.3(COL4A5): c.(?_ 3247)_ (3373_ ?)del (p.(?))deletionPathogenicGRCh37Chr X, 107898561: 107898687
398COL4A5NM_ 000495.4(COL4A5): c.3247-?_ 5058+?deldeletionPathogenic
399COL4A5NM_ 000495.3(COL4A5): c.(?_ 3247)_ (3373_ ?)del (p.(?))deletionPathogenicGRCh37Chr X, 107898561: 107898687
400COL4A5NM_ 000495.4(COL4A5): c.3256G> C (p.Gly1086Arg)SNVPathogenicrs104886231GRCh37Chr X, 107898570: 107898570
401COL4A5NM_ 000495.4(COL4A5): c.3257G> A (p.Gly1086Asp)SNVPathogenicrs104886232GRCh37Chr X, 107898571: 107898571
402COL4A5NM_ 000495.4(COL4A5): c.3289A> T (p.Lys1097Ter)SNVPathogenicrs104886233GRCh37Chr X, 107898603: 107898603
403COL4A5NM_ 000495.4(COL4A5): c.3311G> T (p.Gly1104Val)SNVPathogenicrs104886224GRCh37Chr X, 107898625: 107898625
404COL4A5NM_ 000495.4(COL4A5): c.3319G> A (p.Gly1107Arg)SNVPathogenicrs104886225GRCh37Chr X, 107898633: 107898633
405COL4A5NM_ 000495.4(COL4A5): c.3326_ 3327insT (p.Gly1110Argfs)insertionPathogenicrs397515492GRCh37Chr X, 107898640: 107898641
406COL4A5NM_ 000495.4(COL4A5): c.3331delA (p.Thr1111Profs)deletionPathogenicrs104886226GRCh37Chr X, 107898645: 107898645
407COL4A5NM_ 000495.4(COL4A5): c.3334_ 3337dupCCTG (p.Gly1113Alafs)duplicationPathogenicrs104886380GRCh37Chr X, 107898648: 107898651
408COL4A5NM_ 000495.4(COL4A5): c.3347G> T (p.Gly1116Val)SNVPathogenicrs281874713GRCh37Chr X, 107898661: 107898661
409COL4A5NM_ 000495.4(COL4A5): c.3373+1G> ASNVPathogenicrs281874714GRCh37Chr X, 107898688: 107898688
410COL4A5NM_ 000495.4(COL4A5): c.3374-11C> ASNVPathogenicrs104886387GRCh37Chr X, 107908726: 107908726
411COL4A5NM_ 000495.4(COL4A5): c.3374-?_ 3790+?deldeletionPathogenicGRCh37Chr X, 107898688: 107913457
412COL4A5NM_ 000495.3(COL4A5): c.3374-?_ 5058+?deldeletionPathogenic
413COL4A5NP_ 203699.1: p.?duplicationPathogenic
414COL4A5NM_ 033380.2(COL4A5): c.3403_ 3418del16ins3 (p.Ile1135fs)indelPathogenicrs672601246GRCh37Chr X, 107908766: 107908781
415COL4A5NM_ 000495.4(COL4A5): c.3413delC (p.Pro1138Leufs)deletionPathogenicrs104886227GRCh37Chr X, 107908776: 107908776
416COL4A5NM_ 000495.4(COL4A5): c.3427G> A (p.Gly1143Ser)SNVPathogenicrs104886228GRCh37Chr X, 107908790: 107908790
417COL4A5NM_ 000495.4(COL4A5): c.3454+1G> TSNVPathogenicrs281874715GRCh37Chr X, 107908818: 107908818
418COL4A5NM_ 000495.4(COL4A5): c.3455-9A> GSNVPathogenicrs104886388GRCh37Chr X, 107909717: 107909717
419COL4A5NM_ 000495.4(COL4A5): c.3472G> T (p.Gly1158Trp)SNVPathogenicrs104886389GRCh37Chr X, 107909743: 107909743
420COL4A5NM_ 000495.4(COL4A5): c.3474delG (p.Gln1159Asnfs)deletionPathogenicrs104886234GRCh37Chr X, 107909745: 107909745
421COL4A5NM_ 000495.4(COL4A5): c.3481G> A (p.Gly1161Arg)SNVPathogenicrs104886235GRCh37Chr X, 107909752: 107909752
422COL4A5NM_ 000495.4(COL4A5): c.3499G> A (p.Gly1167Ser)SNVPathogenicrs104886236GRCh37Chr X, 107909770: 107909770
423COL4A5NM_ 000495.4(COL4A5): c.3508G> A (p.Gly1170Ser)SNVPathogenicrs104886237GRCh37Chr X, 107909779: 107909779
424COL4A5NM_ 000495.4(COL4A5): c.3509delG (p.Gly1170Valfs)deletionPathogenicrs104886238GRCh37Chr X, 107909780: 107909780
425COL4A5NM_ 000495.4(COL4A5): c.3527delG (p.Gly1176Aspfs)deletionPathogenicrs104886239GRCh37Chr X, 107909798: 107909798
426COL4A5NM_ 000495.4(COL4A5): c.3535G> A (p.Gly1179Arg)SNVPathogenicrs104886240GRCh37Chr X, 107909806: 107909806
427COL4A5NM_ 000495.4(COL4A5): c.3538C> T (p.Gln1180Ter)SNVPathogenicrs104886241GRCh37Chr X, 107909809: 107909809
428COL4A5NM_ 000495.4(COL4A5): c.3543_ 3549delGGGTGAA (p.Lys1181Asnfs)deletionPathogenicrs281874716GRCh37Chr X, 107909814: 107909820
429COL4A5NM_ 000495.4(COL4A5): c.3544G> C (p.Gly1182Arg)SNVPathogenicrs104886242GRCh37Chr X, 107909815: 107909815
430COL4A5NM_ 000495.4(COL4A5): c.3554-9C> GSNVPathogenicrs104886383GRCh37Chr X, 107910354: 107910354
431COL4A5NM_ 000495.4(COL4A5): c.3554-3C> GSNVPathogenicrs104886382GRCh37Chr X, 107910360: 107910360
432COL4A5NM_ 000495.4(COL4A5): c.3554-1G> ASNVPathogenicrs104886381GRCh37Chr X, 107910362: 107910362
433COL4A5COL4A5: c.3554-?_ 3604+?del (p.?)deletionPathogenicGRCh37Chr X, 107909825: 107911548
434COL4A5NM_ 000495.4(COL4A5): c.3586G> A (p.Gly1196Arg)SNVPathogenicrs104886244GRCh37Chr X, 107910395: 107910395
435COL4A5NM_ 000495.4(COL4A5): c.3587G> A (p.Gly1196Glu)SNVPathogenicrs281874717GRCh37Chr X, 107910396: 107910396
436COL4A5NP_ 203699.1: p.?SNVPathogenic
437COL4A5NP_ 203699.1: p.?SNVPathogenic
438COL4A5NM_ 000495.4(COL4A5): c.3605-2A> GSNVPathogenicrs104886385GRCh37Chr X, 107911547: 107911547
439COL4A5NM_ 000495.4(COL4A5): c.3605-1G> ASNVPathogenicrs104886384GRCh37Chr X, 107911548: 107911548
440COL4A5NM_ 000495.3(COL4A5): c.3605-?_ 5058+?deldeletionPathogenic
441COL4A5NM_ 000495.4(COL4A5): c.3613G> T (p.Gly1205Cys)SNVPathogenicrs104886245GRCh37Chr X, 107911557: 107911557
442COL4A5NM_ 000495.4(COL4A5): c.3613G> A (p.Gly1205Ser)SNVPathogenicrs104886245GRCh37Chr X, 107911557: 107911557
443COL4A5NP_ 203699.1: p.Asp1206fsdeletionPathogenic
444COL4A5NM_ 000495.4(COL4A5): c.3631G> C (p.Gly1211Arg)SNVPathogenicrs104886246GRCh37Chr X, 107911575: 107911575
445COL4A5NM_ 000495.4(COL4A5): c.3632G> A (p.Gly1211Glu)SNVPathogenicrs104886247GRCh37Chr X, 107911576: 107911576
446COL4A5NM_ 000495.4(COL4A5): c.3641G> A (p.Gly1214Glu)SNVPathogenicrs104886248GRCh37Chr X, 107911585: 107911585
447COL4A5NM_ 000495.4(COL4A5): c.3647delC (p.Pro1216Leufs)deletionPathogenicrs104886249GRCh37Chr X, 107911591: 107911591
448COL4A5NM_ 000495.4(COL4A5): c.3657_ 3728del72 (p.Lys1222_ Pro1245del)deletionPathogenicrs104886391GRCh37Chr X, 107911601: 107911672
449COL4A5NM_ 000495.4(COL4A5): c.3659G> A (p.Gly1220Asp)SNVPathogenicrs104886251GRCh37Chr X, 107911603: 107911603
450COL4A5NM_ 000495.4(COL4A5): c.3668G> T (p.Gly1223Val)SNVPathogenicrs104886252GRCh37Chr X, 107911612: 107911612
451COL4A5NM_ 000495.4(COL4A5): c.3686G> A (p.Gly1229Asp)SNVPathogenicrs104886253GRCh37Chr X, 107911630: 107911630
452COL4A5NM_ 000495.4(COL4A5): c.3692delC (p.Pro1231Leufs)deletionPathogenicrs104886254GRCh37Chr X, 107911636: 107911636
453COL4A5NM_ 000495.4(COL4A5): c.3692dupC (p.Gly1232Trpfs)duplicationPathogenicrs281874718GRCh37Chr X, 107911636: 107911636
454COL4A5NM_ 000495.4(COL4A5): c.3694G> A (p.Gly1232Ser)SNVPathogenicrs104886250GRCh37Chr X, 107911638: 107911638
455COL4A5NM_ 000495.4(COL4A5): c.3700C> T (p.Gln1234Ter)SNVPathogenicrs281874719GRCh37Chr X, 107911644: 107911644
456COL4A5NM_ 000495.4(COL4A5): c.3706_ 3722del17insT (p.Pro1236Phefs)indelPathogenicrs281874720GRCh37Chr X, 107911650: 107911666
457COL4A5NM_ 000495.4(COL4A5): c.3710_ 3761del52 (p.Pro1237Leufs)deletionPathogenicrs104886393GRCh37Chr X, 107911654: 107911705
458COL4A5NM_ 000495.4(COL4A5): c.3709_ 3710dupCC (p.Gly1238Glnfs)duplicationPathogenicrs104886392GRCh37Chr X, 107911653: 107911654
459COL4A5NM_ 000495.4(COL4A5): c.3721G> T (p.Gly1241Cys)SNVPathogenicrs104886255GRCh37Chr X, 107911665: 107911665
460COL4A5NM_ 000495.4(COL4A5): c.3722G> T (p.Gly1241Val)SNVPathogenicrs281874721GRCh37Chr X, 107911666: 107911666
461COL4A5NM_ 000495.4(COL4A5): c.3731G> A (p.Gly1244Asp)SNVPathogenicrs104886261GRCh37Chr X, 107911675: 107911675
462COL4A5NM_ 000495.4(COL4A5): c.3754G> A (p.Gly1252Ser)SNVPathogenicrs104886262GRCh37Chr X, 107911698: 107911698
463COL4A5NM_ 000495.4(COL4A5): c.3754_ 3757dupGGCA (p.Asn1253Argfs)duplicationPathogenicrs104886394GRCh37Chr X, 107911698: 107911701
464COL4A5NM_ 000495.4(COL4A5): c.3763G> A (p.Gly1255Arg)SNVPathogenicrs104886263GRCh37Chr X, 107911707: 107911707
465COL4A5NM_ 000495.4(COL4A5): c.3782G> A (p.Gly1261Glu)SNVPathogenicrs104886264GRCh37Chr X, 107911726: 107911726
466COL4A5NM_ 000495.4(COL4A5): c.3790+1delGdeletionPathogenicrs104886256GRCh37Chr X, 107911735: 107911735
467COL4A5COL4A5: c.3791-?_ 3924+?del (p.?)deletionPathogenicGRCh37Chr X, 107917984: 107923908
468COL4A5NM_ 000495.4(COL4A5): c.3808G> A (p.Gly1270Ser)SNVPathogenicrs104886257GRCh37Chr X, 107920747: 107920747
469COL4A5NM_ 000495.4(COL4A5): c.3814delC (p.Pro1272Glnfs)deletionPathogenicrs104886258GRCh37Chr X, 107920753: 107920753
470COL4A5NM_ 000495.4(COL4A5): c.3866_ 3869dupAACC (p.Gly1291Thrfs)duplicationPathogenicrs606231370GRCh37Chr X, 107920805: 107920808
471COL4A5NM_ 000495.4(COL4A5): c.3920delT (p.Leu1307Profs)deletionPathogenicrs104886259GRCh37Chr X, 107920859: 107920859
472COL4A5NM_ 000495.4(COL4A5): c.3924G> C (p.Gln1308His)SNVPathogenicrs281874724GRCh37Chr X, 107920863: 107920863
473COL4A5NM_ 033380.2(COL4A5): c.3942+1G> C (p.?)SNVPathogenicrs483352870GRCh37Chr X, 107920864: 107920864
474COL4A5NM_ 000495.4(COL4A5): c.3925-2A> GSNVPathogenicrs587776400GRCh37Chr X, 107923907: 107923907
475COL4A5NM_ 000495.4(COL4A5): c.3925-1G> ASNVPathogenicrs281874725GRCh37Chr X, 107923908: 107923908
476COL4A5NM_ 000495.4(COL4A5): c.3925-?_ 4069+?deldeletionPathogenic
477COL4A5NM_ 000495.4(COL4A5): c.3958A> T (p.Lys1320Ter)SNVPathogenicrs104886260GRCh37Chr X, 107923942: 107923942
478COL4A5NM_ 000495.4(COL4A5): c.3992delT (p.Phe1331Serfs)deletionPathogenicrs104886265GRCh37Chr X, 107923976: 107923976
479COL4A5NM_ 000495.4(COL4A5): c.3997G> A (p.Gly1333Ser)SNVPathogenicrs104886266GRCh37Chr X, 107923981: 107923981
480COL4A5NM_ 000495.4(COL4A5): c.3998-2A> TSNVPathogenicrs104886397GRCh37Chr X, 107924113: 107924113
481COL4A5NM_ 000495.4(COL4A5): c.3998-2A> GSNVPathogenicrs104886397GRCh37Chr X, 107924113: 107924113
482COL4A5NM_ 000495.4(COL4A5): c.4006G> T (p.Gly1336Ter)SNVPathogenicGRCh37Chr X, 107924123: 107924123
483COL4A54245del6, 4241G> AdeletionPathogenic
484COL4A5NM_ 000495.4(COL4A5): c.4069G> A (p.Gly1357Ser)SNVPathogenicrs104886267GRCh37Chr X, 107924186: 107924186
485COL4A5NM_ 000495.4(COL4A5): c.4069+1G> ASNVPathogenicrs587776401GRCh37Chr X, 107924187: 107924187
486COL4A5NP_ 203699.1: p.?deletionPathogenic
487COL4A5NM_ 000495.4(COL4A5): c.4071delT (p.Pro1358Leufs)deletionPathogenicrs104886268GRCh37Chr X, 107924991: 107924991
488COL4A5NM_ 000495.4(COL4A5): c.4102_ 4103delAG (p.Ser1368Tyrfs)deletionPathogenicrs104886403GRCh37Chr X, 107925022: 107925023
489COL4A5NM_ 000495.4(COL4A5): c.4136G> T (p.Gly1379Val)SNVPathogenicrs104886269GRCh37Chr X, 107925056: 107925056
490COL4A5NM_ 000495.4(COL4A5): c.4147C> T (p.Gln1383Ter)SNVPathogenicrs281874727GRCh37Chr X, 107925067: 107925067
491COL4A5NM_ 000495.4(COL4A5): c.4161_ 4162insTCCT (p.Gly1388Serfs)insertionPathogenicrs606231371GRCh37Chr X, 107925081: 107925082
492COL4A5NM_ 000495.4(COL4A5): c.4171G> T (p.Gly1391Ter)SNVPathogenicrs281874728GRCh37Chr X, 107925091: 107925091
493COL4A5NM_ 000495.4(COL4A5): c.4177C> T (p.Gln1393Ter)SNVPathogenicrs104886405GRCh37Chr X, 107925097: 107925097
494COL4A5NM_ 000495.4(COL4A5): c.4177delC (p.Gln1393Lysfs)deletionPathogenicrs281874729GRCh37Chr X, 107925097: 107925097
495COL4A5NM_ 000495.4(COL4A5): c.4196dupC (p.Gly1400Argfs)duplicationPathogenicrs104886409GRCh37Chr X, 107925116: 107925116
496COL4A5NM_ 000495.4(COL4A5): c.4199-1G> ASNVPathogenicrs587776402GRCh37Chr X, 107929260: 107929260
497COL4A5NP_ 203699.1: p.?deletionPathogenic
498COL4A5NM_ 000495.4(COL4A5): c.4214dupC (p.Gly1406Argfs)duplicationPathogenicrs281874731GRCh37Chr X, 107929276: 107929276
499COL4A5NM_ 000495.4(COL4A5): c.4228C> T (p.Arg1410Cys)SNVPathogenicrs104886270GRCh37Chr X, 107929290: 107929290
500COL4A5NM_ 000495.4(COL4A5): c.4261G> T (p.Gly1421Trp)SNVPathogenicrs104886272GRCh37Chr X, 107929323: 107929323
501COL4A5NM_ 000495.4(COL4A5): c.4279G> T (p.Gly1427Cys)SNVPathogenicrs104886273GRCh37Chr X, 107929341: 107929341
502COL4A5NM_ 000495.4(COL4A5): c.4280G> T (p.Gly1427Val)SNVPathogenicrs104886274GRCh37Chr X, 107929342: 107929342
503COL4A5NM_ 000495.4(COL4A5): c.4297+1G> ASNVPathogenicrs587776403GRCh37Chr X, 107929360: 107929360
504COL4A5NM_ 033380.2(COL4A5): c.4316-1G> C (p.?)SNVPathogenicrs281874734GRCh37Chr X, 107930711: 107930711
505COL4A5NP_ 203699.1: p.?deletionPathogenic
506COL4A5NM_ 000495.4(COL4A5)duplicationPathogenicrs281874736GRCh37Chr X, 107930729: 107930764
507COL4A5NM_ 000495.4(COL4A5): c.4324G> C (p.Gly1442Arg)SNVPathogenicrs104886276GRCh37Chr X, 107930738: 107930738
508COL4A5NM_ 000495.4(COL4A5): c.4325_ 4351del27 (p.Asp1444_ Pro1452del)deletionPathogenicrs104886412GRCh37Chr X, 107930739: 107930765
509COL4A5NM_ 000495.4(COL4A5): c.4351G> A (p.Gly1451Ser)SNVPathogenicrs104886280GRCh37Chr X, 107930765: 107930765
510COL4A5NM_ 000495.4(COL4A5): c.4325G> C (p.Gly1442Ala)SNVPathogenicrs104886277GRCh37Chr X, 107930739: 107930739
511COL4A5NM_ 000495.4(COL4A5): c.4325G> A (p.Gly1442Asp)SNVPathogenicrs104886277GRCh37Chr X, 107930739: 107930739
512COL4A5NM_ 000495.4(COL4A5): c.4342G> A (p.Gly1448Ser)SNVPathogenicrs104886279GRCh37Chr X, 107930756: 107930756
513COL4A5NM_ 000495.4(COL4A5): c.4344_ 4345insT (p.Pro1449Serfs)duplicationPathogenicrs104886418GRCh37Chr X, 107930758: 107930758
514COL4A5NM_ 000495.4(COL4A5): c.4349delC (p.Pro1450Glnfs)deletionPathogenicrs104886275GRCh37Chr X, 107930763: 107930763
515COL4A5NM_ 000495.4(COL4A5): c.4436_ 4437delGA (p.Gly1479Aspfs)deletionPathogenicrs104886420GRCh37Chr X, 107930850: 107930851
516COL4A5NM_ 000495.4(COL4A5): c.4437delA (p.Thr1480Hisfs)deletionPathogenicrs104886281GRCh37Chr X, 107930851: 107930851
517COL4A5NM_ 000495.4(COL4A5): c.4457G> C (p.Gly1486Ala)SNVPathogenicrs104886282GRCh37Chr X, 107930871: 107930871
518COL4A5NM_ 000495.4(COL4A5): c.4463C> T (p.Ser1488Phe)SNVPathogenicrs104886283GRCh37Chr X, 107930877: 107930877
519COL4A5NM_ 000495.4(COL4A5): c.4491_ 4492delAG (p.Arg1497Serfs)deletionPathogenicrs104886421GRCh37Chr X, 107930905: 107930906
520COL4A5NM_ 000495.4(COL4A5): c.4493C> A (p.Ala1498Asp)SNVPathogenicrs104886284GRCh37Chr X, 107930907: 107930907
521COL4A5NM_ 000495.4(COL4A5): c.4501C> T (p.Gln1501Ter)SNVPathogenicrs281874741GRCh37Chr X, 107930915: 107930915
522COL4A5NM_ 000495.4(COL4A5): c.4510+1G> CSNVPathogenicrs104886413GRCh37Chr X, 107930925: 107930925
523COL4A5NM_ 000495.4(COL4A5): c.4513delA (p.Thr1505Argfs)deletionPathogenicrs281874742GRCh37Chr X, 107935980: 107935980
524COL4A5NP_ 203699.1: p.Thr1505fsindelPathogenic
525COL4A5NM_ 000495.4(COL4A5): c.4549C> A (p.Pro1517Thr)SNVPathogenicrs201220208GRCh37Chr X, 107936016: 107936016
526COL4A5NM_ 000495.4(COL4A5): c.4563C> A (p.Cys1521Ter)SNVPathogenicrs104886292GRCh37Chr X, 107936030: 107936030
527COL4A5NM_ 000495.4(COL4A5): c.4613G> C (p.Trp1538Ser)SNVPathogenicrs104886293GRCh37Chr X, 107936080: 107936080
528COL4A5NM_ 000495.4(COL4A5): c.4614G> A (p.Trp1538Ter)SNVPathogenicrs104886294GRCh37Chr X, 107936081: 107936081
529COL4A5NP_ 203699.1: p.Ser1562fsdeletionPathogenic
530COL4A5NM_ 000495.4(COL4A5): c.4687C> T (p.Arg1563Ter)SNVPathogenicrs104886286GRCh37Chr X, 107936154: 107936154
531COL4A5NM_ 000495.4(COL4A5): c.4690T> C (p.Cys1564Arg)SNVPathogenicrs281874745GRCh37Chr X, 107938038: 107938038
532COL4A5NM_ 000495.4(COL4A5): c.4688G> A (p.Arg1563Gln)SNVPathogenicrs281874743GRCh37Chr X, 107936155: 107936155
533COL4A5NM_ 000495.4(COL4A5): c.4689-30_ 4689-9del22insCAindelPathogenicrs281874744GRCh37Chr X, 107938007: 107938028
534COL4A5NM_ 033380.3(COL4A5): c.4707-3_ 4735del (p.?)deletionPathogenicGRCh37Chr X, 107938034: 107938065
535COL4A5NM_ 000495.3(COL4A5): c.4689-?_ 5058+?deldeletionPathogenic
536COL4A5NM_ 000495.4(COL4A5): c.4691G> C (p.Cys1564Ser)SNVPathogenicrs104886287GRCh37Chr X, 107938039: 107938039
537COL4A5NM_ 000495.4(COL4A5): c.4699T> C (p.Cys1567Arg)SNVPathogenicrs104886288GRCh37Chr X, 107938047: 107938047
538COL4A5NM_ 000495.4(COL4A5): c.4702G> A (p.Glu1568Lys)SNVPathogenicrs281874746GRCh37Chr X, 107938050: 107938050
539COL4A5NM_ 000495.4(COL4A5): c.4750_ 4756delCCCCATT (p.Pro1584Valfs)deletionPathogenicrs606231374GRCh37Chr X, 107938098: 107938104
540COL4A5NM_ 000495.4(COL4A5): c.4751C> T (p.Pro1584Leu)SNVPathogenicrs281874747GRCh37Chr X, 107938099: 107938099
541COL4A5NM_ 000495.4(COL4A5): c.4756T> C (p.Cys1586Arg)SNVPathogenicrs104886289GRCh37Chr X, 107938104: 107938104
542COL4A5NM_ 000495.4(COL4A5): c.4757G> T (p.Cys1586Phe)SNVPathogenicrs104886290GRCh37Chr X, 107938105: 107938105
543COL4A5NM_ 000495.4(COL4A5): c.4766G> T (p.Gly1589Val)SNVPathogenicrs104886291GRCh37Chr X, 107938114: 107938114
544COL4A5NM_ 000495.4(COL4A5): c.4768T> G (p.Trp1590Gly)SNVPathogenicrs104886296GRCh37Chr X, 107938116: 107938116
545COL4A5NM_ 000495.4(COL4A5): c.4787G> A (p.Gly1596Asp)SNVPathogenicrs104886297GRCh37Chr X, 107938135: 107938135
546COL4A5NM_ 000495.4(COL4A5): c.4790A> G (p.Tyr1597Cys)SNVPathogenicrs104886298GRCh37Chr X, 107938138: 107938138
547COL4A5NM_ 000495.4(COL4A5): c.4791T> A (p.Tyr1597Ter)SNVPathogenicrs104886299GRCh37Chr X, 107938139: 107938139
548COL4A5NM_ 000495.4(COL4A5): c.4803G> A (p.Met1601Ile)SNVPathogenicrs104886300GRCh37Chr X, 107938151: 107938151
549COL4A5NP_ 203699.1: p.?insertionPathogenic
550COL4A5NM_ 000495.4(COL4A5): c.4803+1G> ASNVPathogenicrs587776404GRCh37Chr X, 107938152: 107938152
551COL4A5NM_ 000495.4(COL4A5): c.4803+121T> CSNVPathogenicrs104886423GRCh37Chr X, 107938272: 107938272
552COL4A5NM_ 033380.2(COL4A5): c.4822-151_ 4822-150insT (p.?)insertionPathogenicrs397515494GRCh37Chr X, 107938346: 107938347
553COL4A5NM_ 000495.4(COL4A5): c.4832delG (p.Gly1611Valfs)deletionPathogenicrs104886301GRCh37Chr X, 107938525: 107938525
554COL4A5NM_ 000495.4(COL4A5): c.4894T> G (p.Cys1632Gly)SNVPathogenicrs281874750GRCh37Chr X, 107938587: 107938587
555COL4A5NM_ 000495.4(COL4A5): c.4913G> A (p.Cys1638Tyr)SNVPathogenicrs104886302GRCh37Chr X, 107938606: 107938606
556COL4A5NM_ 000495.4(COL4A5): c.4968delC (p.Asp1656Glufs)deletionPathogenicrs104886304GRCh37Chr X, 107938661: 107938661
557COL4A5NM_ 000495.4(COL4A5): c.4976G> A (p.Ser1659Asn)SNVPathogenicrs104886305GRCh37Chr X, 107938669: 107938669
558COL4A5NM_ 000495.4(COL4A5): c.4977-2A> GSNVPathogenicrs281874752GRCh37Chr X, 107939525: 107939525
559COL4A5NM_ 000495.4(COL4A5): c.4994_ 5001delCGCTGAAA (p.Thr1665Serfs)deletionPathogenicrs104886426GRCh37Chr X, 107939544: 107939551
560COL4A5NM_ 000495.4(COL4A5): c.5020C> T (p.Arg1674Ter)SNVPathogenicrs281874753GRCh37Chr X, 107939570: 107939570
561COL4A5NM_ 000495.4(COL4A5): c.5029C> T (p.Arg1677Ter)SNVPathogenicrs104886306GRCh37Chr X, 107939579: 107939579
562COL4A5NM_ 000495.4(COL4A5): c.5030G> C (p.Arg1677Pro)SNVPathogenicrs104886308GRCh37Chr X, 107939580: 107939580
563COL4A5NM_ 000495.4(COL4A5): c.5032T> C (p.Cys1678Arg)SNVPathogenicrs104886310GRCh37Chr X, 107939582: 107939582
564COL4A5NM_ 000495.4(COL4A5): c.5034delT (p.Gln1679Lysfs)deletionPathogenicrs104886307GRCh37Chr X, 107939584: 107939584
565COL4A5NM_ 000495.4(COL4A5): c.5034T> G (p.Cys1678Trp)SNVPathogenicrs104886311GRCh37Chr X, 107939584: 107939584
566COL4A5NM_ 000495.4(COL4A5): c.5042G> T (p.Cys1681Phe)SNVPathogenicrs281874754GRCh37Chr X, 107939592: 107939592
567COL4A5NM_ 000495.4(COL4A5): c.4882_ 4885delCCCT (p.Pro1628Serfs)deletionPathogenicrs886039886GRCh38Chr X, 108695345: 108695348
568COL4A5NM_ 000495.4(COL4A5): c.2766delA (p.Gly923Valfs)deletionPathogenicrs886039890GRCh38Chr X, 108621891: 108621891
569COL4A5NM_ 000495.4(COL4A5): c.3487_ 3488delCCinsG (p.Pro1163Glufs)indelPathogenicrs1057516187GRCh37Chr X, 107909758: 107909759
570COL4A5NM_ 000495.4(COL4A5): c.4745delA (p.Gln1582Argfs)deletionPathogenicrs1057516203GRCh37Chr X, 107938093: 107938093
571COL4A5NM_ 000495.4(COL4A5): c.(?_ -202)-1982_ (81_ ?)deldeletionPathogenicGRCh37Chr X, 107681172: 107683436
572COL4A5NM_ 000495.3(COL4A5): c.1-?_ 3246+?deldeletionPathogenic
573COL4A5NM_ 000495.4(COL4A5): c.(?_ -202)-1982_ (81_ ?)deldeletionPathogenicGRCh37Chr X, 107681172: 107683436
574COL4A5NM_ 000495.3(COL4A5): c.1-?_ 5058+?deldeletionPathogenicGRCh37Chr X, 107681416: 107939608
575COL4A5NM_ 000495.3(COL4A5): c.1-?_ 5058+?deldeletionPathogenic
576COL4A5c82-?_ 5058+?deldeletionPathogenic
577COL4A5NM_ 000495.4(COL4A5): c.430G> C (p.Gly144Arg)SNVPathogenicrs104886052GRCh37Chr X, 107814688: 107814688
578COL4A5NM_ 000495.4(COL4A5): c.438+2T> CSNVPathogenicrs281874738GRCh37Chr X, 107814698: 107814698
579COL4A5NM_ 000495.4(COL4A5): c.476delG (p.Gly159Valfs)deletionPathogenicrs281874748GRCh37Chr X, 107816814: 107816814
580COL4A5NM_ 000495.4(COL4A5): c.573_ 574insGA (p.Gly192Glufs)insertionPathogenicrs281874757GRCh37Chr X, 107819166: 107819167
581COL4A5NM_ 000495.4(COL4A5): c.665T> G (p.Phe222Cys)SNVPathogenicrs281874761GRCh37Chr X, 107821327: 107821327
582COL4A5NM_ 000495.4(COL4A5): c.682G> T (p.Glu228Ter)SNVPathogenicrs281874762GRCh37Chr X, 107821344: 107821344
583COL4A5NM_ 000495.4(COL4A5): c.788delC (p.Pro263Leufs)deletionPathogenicrs281874764GRCh37Chr X, 107823770: 107823770
584COL4A5NM_ 000495.4(COL4A5): c.1135C> T (p.Gln379Ter)SNVPathogenicrs281874657GRCh37Chr X, 107829947: 107829947
585COL4A5NM_ 000495.4(COL4A5): c.1216G> A (p.Gly406Ser)SNVPathogenicrs281874660GRCh37Chr X, 107834338: 107834338
586COL4A5NM_ 000495.4(COL4A5): c.1589G> A (p.Gly530Asp)SNVPathogenicrs281874671GRCh37Chr X, 107840608: 107840608
587COL4A5NM_ 000495.4(COL4A5): c.1744G> A (p.Gly582Arg)SNVPathogenicrs281874677GRCh37Chr X, 107840763: 107840763
588COL4A5NM_ 000495.4(COL4A5): c.1835G> A (p.Gly612Asp)SNVPathogenicrs281874680GRCh37Chr X, 107841987: 107841987
589COL4A5NM_ 000495.4(COL4A5): c.1883C> T (p.Pro628Leu)SNVPathogenicrs281874682GRCh37Chr X, 107842035: 107842035
590COL4A5c1949-?_ 2395+?deldeletionPathogenic
591COL4A5NM_ 000495.4(COL4A5): c.2014G> C (p.Gly672Arg)SNVPathogenicrs281874685GRCh37Chr X, 107844688: 107844688
592COL4A5NM_ 000495.4(COL4A5): c.2164G> C (p.Gly722Arg)SNVPathogenicrs281874687GRCh37Chr X, 107846211: 107846211
593COL4A5NM_ 000495.4(COL4A5)indelPathogenicrs397515495GRCh37Chr X, 107858179: 107858186
594COL4A5NM_ 000495.4(COL4A5): c.2483G> A (p.Gly828Glu)SNVPathogenicrs281874695GRCh37Chr X, 107858228: 107858228
595COL4A5c2510-?_ 3246+?deldeletionPathogenic
596COL4A5NM_ 000495.4(COL4A5): c.2587_ 2606del20ins75 (p.?)indelPathogenicGRCh37Chr X, 107863566: 107863585
597COL4A5NM_ 000495.4(COL4A5): c.2623G> C (p.Gly875Arg)SNVPathogenicrs281874698GRCh37Chr X, 107863602: 107863602
598COL4A5NM_ 000495.4(COL4A5): c.2678G> T (p.Gly893Val)SNVPathogenicrs397515496GRCh37Chr X, 107865033: 107865033
599COL4A5NM_ 000495.4(COL4A5): c.2696_ 2705delGTATGATGGG (p.Gly899Aspfs)deletionPathogenicrs281874701GRCh37Chr X, 107865051: 107865060
600COL4A5NM_ 000495.4(COL4A5): c.2696G> T (p.Gly899Val)SNVPathogenicrs281874702GRCh37Chr X, 107865051: 107865051
601COL4A5NM_ 000495.3(COL4A5): c.2918-?_ 5058+?deldeletionPathogenic
602COL4A5NM_ 000495.4(COL4A5): c.2947delT (p.Tyr983Ilefs)deletionPathogenicrs281874708GRCh37Chr X, 107867495: 107867495
603COL4A5NM_ 000495.4(COL4A5): c.3107-4A> GSNVPathogenicrs397515497GRCh37Chr X, 107869436: 107869436
604COL4A5NM_ 000495.4(COL4A5): c.3017-?_ 3246+?deldeletionPathogenic
605COL4A5NM_ 000495.4(COL4A5): c.3046delC (p.Gln1016Serfs)deletionPathogenicrs281874710GRCh37Chr X, 107868964: 107868964
606COL4A5c3247-?_ 4198+?deldeletionPathogenic
607COL4A5insertionPathogenic
608COL4A5NM_ 000495.3(COL4A5): c.[3837_ 3845del;3857dupA]deletionPathogenic
609COL4A5ins10-15kb(intron46);del25kbindelPathogenic
610COL4A5NM_ 000495.4(COL4A5): c.4235delG (p.Gly1412Aspfs)deletionPathogenicrs281874732GRCh37Chr X, 107929297: 107929297
611COL4A5NM_ 000495.3: c.4253_ 4262del;4263_ 4280dupdeletionPathogenic
612COL4A5NM_ 000495.4(COL4A5): c.4271G> A (p.Gly1424Glu)SNVPathogenicrs281874733GRCh37Chr X, 107929333: 107929333
613COL4A5NM_ 000495.4(COL4A5): c.4280G> C (p.Gly1427Ala)SNVPathogenicrs104886274GRCh37Chr X, 107929342: 107929342
614COL4A5NM_ 000495.4(COL4A5): c.4298G> T (p.Gly1433Val)SNVPathogenicrs281874735GRCh37Chr X, 107930712: 107930712
615COL4A5NM_ 000495.4(COL4A5): c.4439C> G (p.Thr1480Arg)SNVPathogenicrs281874740GRCh37Chr X, 107930853: 107930853
616COL4A5ins10-15kb(intron47);del~40kb3'toCOL4A5indelPathogenic
617COL4A5NM_ 000495.4(COL4A5): c.4780_ 4781delTG (p.Trp1594Aspfs)deletionPathogenicrs281874749GRCh37Chr X, 107938128: 107938129
618COL4A5NM_ 000495.4(COL4A5): c.4942dupT (p.Trp1648Leufs)duplicationPathogenicrs281874751GRCh37Chr X, 107938635: 107938635
619COL4A5NM_ 000495.4(COL4A5): c.5030G> T (p.Arg1677Leu)SNVPathogenicrs104886308GRCh37Chr X, 107939580: 107939580
620COL4A5NM_ 000495.4(COL4A5): c.2048delC (p.Pro683Leufs)deletionPathogenicrs1060499694GRCh37Chr X, 107845121: 107845121
621COL4A5NM_ 000495.4(COL4A5): c.3801_ 3863del63 (p.Pro1268_ Gly1288del)deletionPathogenicGRCh37Chr X, 107920740: 107920802
622COL4A5NM_ 000495.4(COL4A5): c.3509G> A (p.Gly1170Asp)SNVLikely pathogenicrs1060499710GRCh37Chr X, 107909780: 107909780

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 21)
idSuper pathwaysScoreTop Affiliating Genes
19.3COL1A2, COL4A1, COL4A2
29.3COL1A2, COL4A1, COL4A2
39.1COL4A1, COL4A2, COL4A3, COL4A4, COL4A5
48.9COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
5
Show member pathways
8.8ALB, COL1A2, COL4A1, COL4A2
68.6COL4A3, COL4A4, COL4A5, LAMA5, MYH9, MYO1E
78.5COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
88.5COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
9
Show member pathways
8.3COL1A2, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5
108.3COL1A2, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5
118.3COL1A2, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5
12
Show member pathways
8.0COL1A2, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5
138.0COL1A2, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5
14
Show member pathways
8.0COL1A2, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5
15
Show member pathways
8.0COL1A2, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5
168.0COL1A2, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5
177.5COL1A2, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5
18
Show member pathways
7.3CD79A, COL1A2, COL4A1, COL4A2, COL4A3, COL4A4
19
Show member pathways
7.1COL1A2, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5
20
Show member pathways
7.1COL1A2, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5
21
Show member pathways
7.1COL1A2, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5

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
1collagen type IV trimerGO:00055879.6COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
2basal laminaGO:00056059.6COL4A4, COL4A5, LAMA5, NID1
3collagen trimerGO:00055819.1COL1A2, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5
4endoplasmic reticulum lumenGO:00057888.6ALB, COL1A2, COL4A1, COL4A2, COL4A3, COL4A4
5extracellular matrixGO:00310128.5COL1A2, COL4A1, COL4A2, LAMA5, MYH9, NID1
6basement membraneGO:00056048.4COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
7extracellular regionGO:00055767.3ALB, COL1A2, COL4A1, COL4A2, COL4A3, COL4A4
8proteinaceous extracellular matrixGO:00055787.1COL1A2, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1actin filament-based movementGO:003004810.4MYH9, MYO1E
2basement membrane organizationGO:007171110.0COL4A1, NID1
3cellular response to amino acid stimulusGO:007123010.0COL1A2, COL4A1, COL4A6
4neuromuscular junction developmentGO:00075289.9COL4A1, COL4A5
5collagen-activated tyrosine kinase receptor signaling pathwayGO:00380639.7COL4A1, COL4A2, COL4A3, COL4A5, COL4A6
6cell adhesionGO:00071559.1COL4A3, COL4A6, LAMA5, MYH9, NID1
7glomerular basement membrane developmentGO:00328369.1COL4A3, COL4A4, MYO1E, NID1
8collagen catabolic processGO:00305748.9COL1A2, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5
9extracellular matrix organizationGO:00301987.6COL1A2, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5

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

idNameGO IDScoreTop Affiliating Genes
1microfilament motor activityGO:00001469.9MYH9, MYO1E
2platelet-derived growth factor bindingGO:00484079.6COL1A2, COL4A1
3extracellular matrix structural constituentGO:00052018.7COL1A2, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5

Sources for Alport Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet