| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126861897, MHRT
+1 more (A1702V) | Single nucleotide variant (non-coding transcript variant +1 more) | Cardiomyopathy +2 more | |
| | LOC126861897, MHRT
+1 more (D1652Y) | Single nucleotide variant (missense variant) | Congenital myopathy with fiber type disproportion +9 more | |
| | LOC126861897, MHRT
+1 more (R1634H) | Single nucleotide variant (non-coding transcript variant +1 more) | Cardiovascular phenotype +10 more | |
| | LOC126861897, MHRT
+1 more (R1608H) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +3 more | |
| | LOC126861897, MHRT
+1 more (R1560Q) | Single nucleotide variant (non-coding transcript variant +1 more) | Cardiovascular phenotype +9 more | GConflicting classifications of pathogenicity |
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