Gene Symbol:
ADGRV1
HGNC:17416
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
5q14.3
Filters:

Definitive classifications

Usher syndrome type 2
AR
02/15/2017
Evaluated
04/21/2024
Submitted

Strong classifications

Usher syndrome type 2C
Submitted as: OMIM:605472
AR
10/09/2020
Evaluated
11/09/2020
Submitted
Usher syndrome type 2C
Submitted as: OMIM:605472
AR
09/01/2022
Evaluated
11/30/2023
Submitted

Supportive classifications

Usher syndrome type 2
Submitted as: Orphanet:231178
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

febrile seizures, familial, 4
Submitted as: OMIM:604352
AD
10/01/2020
Evaluated
12/24/2020
Submitted

Disputed Evidence classifications

nonsyndromic genetic hearing loss
AR
03/19/2019
Evaluated
04/21/2024
Submitted

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