Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr4:57796268
- GRCh38:
- Chr4:56930102
| REST | C415S | Autosomal dominant nonsyndromic hearing loss 27 | Pathogenic
(Apr 22, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr4:57777717
- GRCh38:
- Chr4:56911551
| REST | | Autosomal dominant nonsyndromic hearing loss 27, Wilms tumor 6, Fibromatosis, gingival, 5,
not provided | Benign/Likely benign
(Mar 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:57793760
- GRCh38:
- Chr4:56927594
| REST | | Autosomal dominant nonsyndromic hearing loss 27 | Pathogenic
(Jul 27, 2022) | no assertion criteria provided |