| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Abnormality of the mitochondrion +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +15 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene