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 | | Wilms tumor 6, Fibromatosis, gingival, 5, Autosomal dominant nonsyndromic hearing loss 27, 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 |