| | LOC129993885, NDUFS4 (M1I) | Single nucleotide variant (missense variant +2 more) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | LOC129993885, NDUFS4 (S7*) | Single nucleotide variant (nonsense +1 more) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | LOC129993885, NDUFS4 (V9fs) | Deletion (frameshift variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | GPathogenic/Likely pathogenic |
| | LOC129993885, NDUFS4 (L25F) | Single nucleotide variant (missense variant +1 more) | Leigh syndrome | |
| | LOC129993885, NDUFS4 (V27D) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | not provided +2 more | |
| | | Deletion (frameshift variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Duplication (frameshift variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Deletion (frameshift variant +1 more) | Leigh syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Deletion (nonsense +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +2 more | |
| | | Deletion (frameshift variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +3 more | |
| | | Deletion (frameshift variant +1 more) | Inborn genetic diseases +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial complex I deficiency +3 more | |
| | | Duplication (frameshift variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +2 more) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (nonsense +2 more) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (splice donor variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Deletion (3 prime UTR variant +2 more) | Leigh syndrome +3 more | |
| | | Duplication (3 prime UTR variant +2 more) | Mitochondrial complex I deficiency, nuclear type 1 +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (3 prime UTR variant +2 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Duplication (3 prime UTR variant +2 more) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mitochondrial complex I deficiency, nuclear type 1 | |