| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (inframe_deletion) | Dilated cardiomyopathy 1S +1 more | |
| | LOC126861897, MHRT +1 more (K1729del) | Microsatellite (non-coding transcript variant +1 more) | Cardiovascular phenotype +2 more | |
| | LOC126861897, MHRT +1 more (K1617del) | Microsatellite (inframe_deletion +1 more) | MYH7-related skeletal myopathy +3 more | GPathogenic/Likely pathogenic |
| | LOC126861897, MHRT +1 more (R1560P) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hypertrophic cardiomyopathy +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene