| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1I +20 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myopathy +14 more | |
| | | Single nucleotide variant (missense variant) | Nonsyndromic genetic hearing loss | |
| | | Single nucleotide variant (missense variant) | Pulmonary arterial hypertension +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Pulmonary arterial hypertension +3 more | |
Click to view in NCBI Gene