Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr14:23894961
- GRCh38:
- Chr14:23425752
| MYH7 | E743D | Hypertrophic cardiomyopathy, not provided | Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:30408160
- GRCh38:
- Chr20:31820357
| MYLK2 | A95E | not specified, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy 1 | Benign/Likely benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:30408136
- GRCh38:
- Chr20:31820333
| MYLK2 | A87V | not specified, not provided, Hypertrophic cardiomyopathy 1
| Conflicting interpretations of pathogenicity
(Feb 6, 2023) | criteria provided, conflicting interpretations |