| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126861897, MHRT
+1 more (R1712Q) | Single nucleotide variant (non-coding transcript variant +1 more) | Hypertrophic cardiomyopathy | |
| | LOC126861897, MHRT
+1 more (A1660P) | Single nucleotide variant (non-coding transcript variant +1 more) | Myosin storage myopathy | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1S +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (non-coding transcript variant +1 more) | Myosin storage myopathy | |
Click to view in NCBI Gene