Links from MedGen
Items: 4
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr6:121769032
- GRCh38:
- Chr6:121447886
| GJA1 | L347I | Inborn genetic diseases, Autosomal dominant palmoplantar keratoderma and congenital alopecia, Atrioventricular septal defect 3,
Oculodentodigital dysplasia, autosomal recessive, Syndactyly type 3, Oculodentodigital dysplasia,
Craniometaphyseal dysplasia, autosomal recessive, Hypoplastic left heart syndrome 1, Erythrokeratodermia variabilis et progressiva 3,
not provided, Oculodentodigital dysplasia, autosomal recessive ...see more | Uncertain significance
(Feb 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:121768925
- GRCh38:
- Chr6:121447779
| GJA1 | A311fs | Autosomal dominant palmoplantar keratoderma and congenital alopecia, Atrioventricular septal defect 3, Oculodentodigital dysplasia, autosomal recessive,
Hypoplastic left heart syndrome 1, Craniometaphyseal dysplasia, autosomal recessive, Syndactyly type 3,
Oculodentodigital dysplasia, Erythrokeratodermia variabilis et progressiva 3 | Uncertain significance
(Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:121768112
- GRCh38:
- Chr6:121446966
| GJA1 | A40V | Autosomal dominant palmoplantar keratoderma and congenital alopecia, Erythrokeratodermia variabilis et progressiva 3, Oculodentodigital dysplasia,
Craniometaphyseal dysplasia, autosomal recessive, Hypoplastic left heart syndrome 1, Atrioventricular septal defect 3,
Oculodentodigital dysplasia, autosomal recessive, Syndactyly type 3, not provided,
Oculodentodigital dysplasia, Oculodentodigital dysplasia, autosomal recessive ...see more | Pathogenic
(May 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:121768709
- GRCh38:
- Chr6:121447563
| GJA1 | R239Q | Oculodentodigital dysplasia, autosomal recessive, not provided | Conflicting interpretations of pathogenicity
(Sep 22, 2022) | criteria provided, conflicting interpretations |