| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_deletion) | Mitochondrial complex 1 deficiency, nuclear type 27 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +10 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene