| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Perrault syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Perrault syndrome 4 | |
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