Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance (Last reviewed) | Review status |
---|
| - GRCh37:
- Chr14:23855189
- GRCh38:
- Chr14:23385980
| LOC126861896, MYH6 | A1704V | not specified, Chest pain, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 14 | Uncertain significance (Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:23894048
- GRCh38:
- Chr14:23424839
| LOC126861898, MYH7 | R870H | Hypertrophic cardiomyopathy | Pathogenic (Dec 15, 2016) | reviewed by expert panel FDA Recognized Database |