| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | NDUFAF8, LOC130061928 (M1L) | Single nucleotide variant (missense variant +2 more) | Mitochondrial complex 1 deficiency, nuclear type 34 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene