| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Progressive external ophthalmoplegia +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
Click to view in NCBI Gene