Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance (Last reviewed) | Review status |
---|
| | | | Autosomal dominant nonsyndromic hearing loss 16 | Pathogenic (Feb 19, 2016) | no assertion criteria provided |
| | STRC | | Autosomal dominant nonsyndromic hearing loss 16 | Pathogenic (Feb 19, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr15:43896606
- GRCh38:
- Chr15:43604408
| STRC | R1391G | Rare genetic deafness, not provided, Autosomal recessive nonsyndromic hearing loss 16
| Likely pathogenic (Jan 10, 2020) | criteria provided, multiple submitters, no conflicts |