Links from MedGen
Items: 7
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr6:76550306
- GRCh38:
- Chr6:75840589
| MYO6 | P187fs | Autosomal dominant nonsyndromic hearing loss | Pathogenic
(May 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:61115592
- GRCh38:
- Chr14:60648874
| SIX1 | V106L | Autosomal dominant nonsyndromic hearing loss | Likely pathogenic
(Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:122702909
- GRCh38:
- Chr12:122218362
| DIABLO | L20F, L73F | Autosomal dominant nonsyndromic hearing loss, Autosomal dominant nonsyndromic hearing loss 64 | Uncertain significance
(Sep 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:18964356
- GRCh38:
- Chr18:21384395
| GREB1L, LOC101927521 | T116I | Autosomal dominant nonsyndromic hearing loss | Uncertain significance
(May 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr3:10420936
- GRCh38:
- Chr3:10379252
| ATP2B2 | Q345* | Autosomal dominant nonsyndromic hearing loss | Pathogenic
(Jul 6, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr3:142395017
- GRCh38:
- Chr3:142676175
| PLS1 | F128S | Hearing loss, autosomal dominant 76, Autosomal dominant nonsyndromic hearing loss, Bilateral sensorineural hearing impairment
| Pathogenic/Likely pathogenic
(Feb 21, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr7:31890328
- GRCh38:
- Chr7:31850714
| PDE1C | A320S, A395S, A260S | Hearing loss, autosomal dominant 74, Autosomal dominant nonsyndromic hearing loss | Pathogenic/Likely pathogenic
(Oct 12, 2018) | no assertion criteria provided |