Search results for GJA1

Gene symbol Genotype Mutation consequence Disease Panel
GJA1 biallelic all missense/in frame HALLERMANN-STREIFF SYNDROME
GJA1 biallelic loss of function AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA
GJA1 monoallelic all missense/in frame SYNDACTYLY TYPE 3
GJA1 monoallelic all missense/in frame HYPOPLASTIC LEFT HEART SYNDROME
GJA1 monoallelic uncertain AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA
GJA1 biallelic all missense/in frame HALLERMANN-STREIFF SYNDROME
GJA1 biallelic loss of function OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
GJA1 monoallelic uncertain OCULODENTODIGITAL DYSPLASIA
GJA1 biallelic all missense/in frame HALLERMANN-STREIFF SYNDROME
GJA1 biallelic loss of function AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA
GJA1 monoallelic all missense/in frame SYNDACTYLY TYPE 3
GJA1 monoallelic all missense/in frame HYPOPLASTIC LEFT HEART SYNDROME
GJA1 monoallelic dominant negative OCULODENTODIGITAL DYSPLASIA
GJA1 monoallelic uncertain AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA