Links from MedGen
Items: 5
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr5:131630647
- GRCh38:
- Chr5:132294954
| SLC22A4 | C113Y | not provided | Uncertain significance
(Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr21:35821838-35821839
- GRCh38:
- Chr21:34449540-34449541
| KCNE1 | R32fs | Long QT syndrome, Hereditary hearing loss and deafness | Pathogenic
(Apr 16, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr2:228110733
- GRCh38:
- Chr2:227246017
| COL4A3, MFF-DT | | Hereditary hearing loss and deafness | Pathogenic
(Apr 16, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr3:142403154
- GRCh38:
- Chr3:142684312
| PLS1 | E269K | Hearing loss, autosomal dominant 76, Hereditary hearing loss and deafness | Conflicting interpretations of pathogenicity
(Feb 26, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr1:149897814
- GRCh38:
- Chr1:149925922
| SF3B4 | P276fs | Hereditary hearing loss and deafness, not provided | Pathogenic
(Aug 24, 2017) | criteria provided, multiple submitters, no conflicts |