| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, axonal, type 2EE +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene