| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | NDUFS4-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +3 more | GConflicting classifications of pathogenicity |
| | NDUFS4, LOC129993885 (S5P) | Single nucleotide variant (missense variant +1 more) | Leigh syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | NDUFS4-related disorder | |
Click to view in NCBI Gene