| 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 (E1708K) | Single nucleotide variant (non-coding transcript variant +1 more) | Hypertrophic cardiomyopathy | |
| | MHRT, LOC126861897
+1 more (A1577T) | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital myopathy with fiber type disproportion | |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Cardiomyopathy | |
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