| - GRCh37:
- Chr1:35250679
- GRCh38:
- Chr1:34785078
| GJB3 | R106C | Erythrokeratodermia variabilis et progressiva 1, Autosomal dominant nonsyndromic hearing loss 2B, not provided
| Conflicting interpretations of pathogenicity (Aug 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:35250704
- GRCh38:
- Chr1:34785103
| GJB3 | K115fs | Erythrokeratodermia variabilis et progressiva 1, Autosomal dominant nonsyndromic hearing loss 2B, Autosomal recessive nonsyndromic hearing loss 1A, not provided | Uncertain significance (Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:35250613
- GRCh38:
- Chr1:34785012
| GJB3 | V84I | Autosomal dominant nonsyndromic hearing loss 2B, Erythrokeratodermia variabilis et progressiva 1, Autosomal recessive nonsyndromic hearing loss 1A, not provided, Erythrokeratodermia variabilis et progressiva 1 | Benign/Likely benign (Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:35250862
- GRCh38:
- Chr1:34785261
| GJB3 | V167M | not provided, Autosomal dominant nonsyndromic hearing loss 2B, Autosomal recessive nonsyndromic hearing loss 1A, Erythrokeratodermia variabilis et progressiva 1 | Conflicting interpretations of pathogenicity (Sep 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:35250942
- GRCh38:
- Chr1:34785341
| GJB3 | | Autosomal dominant nonsyndromic hearing loss 2B, Autosomal recessive nonsyndromic hearing loss 1A, Erythrokeratodermia variabilis et progressiva 1, not specified, not provided, Erythrokeratodermia variabilis et progressiva 1
| Benign/Likely benign (Sep 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:35250720
- GRCh38:
- Chr1:34785119
| GJB3 | | not specified, not provided, Erythrokeratodermia variabilis et progressiva 1, Autosomal dominant nonsyndromic hearing loss 2B | Benign (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:35250943
- GRCh38:
- Chr1:34785342
| GJB3 | A194T | Erythrokeratodermia variabilis et progressiva 1, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 2B, not provided, Erythrokeratodermia variabilis et progressiva 1 | Benign/Likely benign (Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:35250901
- GRCh38:
- Chr1:34785300
| GJB3 | R180* | not provided, not specified | Uncertain significance (Apr 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:35250910
- GRCh38:
- Chr1:34785309
| GJB3 | E183K | not specified, not provided, Erythrokeratodermia variabilis et progressiva 1
| Conflicting interpretations of pathogenicity (Oct 13, 2022) | criteria provided, conflicting interpretations |