Links from MedGen
Items: 8
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr7:45717651
- GRCh38:
- Chr7:45678052
| ADCY1 | R597W | Autosomal recessive nonsyndromic hearing loss 44, not provided | Benign/Likely benign
(Aug 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:45743403
- GRCh38:
- Chr7:45703804
| ADCY1 | | Autosomal recessive nonsyndromic hearing loss 44, not provided | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:45743128
- GRCh38:
- Chr7:45703529
| ADCY1 | | Autosomal recessive nonsyndromic hearing loss 44, not provided | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:45697297
- GRCh38:
- Chr7:45657698
| ADCY1 | | Autosomal recessive nonsyndromic hearing loss 44, not provided | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:45697295
- GRCh38:
- Chr7:45657696
| ADCY1 | | Autosomal recessive nonsyndromic hearing loss 44, not provided | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:45725648
- GRCh38:
- Chr7:45686049
| ADCY1 | T721A | Inborn genetic diseases, not provided, Autosomal recessive nonsyndromic hearing loss 44
| Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:45753324
- GRCh38:
- Chr7:45713725
| ADCY1 | | Autosomal recessive nonsyndromic hearing loss 44, not specified, not provided
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:45753346
- GRCh38:
- Chr7:45713747
| ADCY1 | R1038* | Autosomal recessive nonsyndromic hearing loss 44 | Pathogenic
(Nov 20, 2014) | no assertion criteria provided |