| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | SELENON-related myopathy +5 more | GPathogenic/Likely pathogenic |
| | LOC126861897, MHRT
+1 more (K1729del) | Microsatellite (non-coding transcript variant +1 more) | Hypertrophic cardiomyopathy +2 more | |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (nonsense) | Malignant hyperthermia, susceptibility to, 1 +6 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene