Gene Symbol:
COL4A1
HGNC:2202
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
13q34
Filters:

Strong classifications

brain small vessel disease 1 with or without ocular anomalies
Submitted as: OMIM:175780
AD
01/29/2021
Evaluated
03/31/2021
Submitted
autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Submitted as: OMIM:611773
AD
10/15/2020
Evaluated
03/31/2021
Submitted
brain small vessel disease 1 with or without ocular anomalies
Submitted as: OMIM:175780
AD
12/22/2020
Evaluated
12/24/2020
Submitted

Moderate classifications

autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Submitted as: OMIM:611773
AD
02/08/2017
Evaluated
03/02/2021
Submitted
brain small vessel disease 1 with or without ocular anomalies
Submitted as: OMIM:175780
AD
02/08/2017
Evaluated
03/02/2021
Submitted

Supportive classifications

muscular dystrophy-dystroglycanopathy, type A
Submitted as: Orphanet:899
AR
09/14/2021
Evaluated
09/14/2021
Submitted
brain small vessel disease 1 with or without ocular anomalies
Submitted as: Orphanet:36383
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Submitted as: Orphanet:73229
AD
09/14/2021
Evaluated
09/14/2021
Submitted
retinal arterial tortuosity
Submitted as: Orphanet:75326
AD
09/14/2021
Evaluated
09/14/2021
Submitted
familial porencephaly
Submitted as: Orphanet:99810
AD
09/14/2021
Evaluated
09/14/2021
Submitted
pontine autosomal dominant microangiopathy with leukoencephalopathy
Submitted as: Orphanet:477749
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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