| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +3 more | |
| | | Deletion (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | LOC129936730, NDUFAF3 (A37T) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Duplication (nonsense) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | LOC129993885, NDUFS4 (M1I) | Single nucleotide variant (missense variant +2 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 |
| | | Single nucleotide variant (splice acceptor variant) | not provided +2 more | |
| | | Duplication (frameshift variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Deletion (frameshift variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Deletion (frameshift variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (splice donor variant) | Mitochondrial complex I deficiency, nuclear type 1 +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) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +2 more) | Mitochondrial complex I deficiency, nuclear type 1 +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 +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 | |
| | | Single nucleotide variant (nonsense) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Leigh syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency, nuclear type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency, nuclear type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | LOC126861242, NDUFV1 (V400M +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | NDUFV1, LOC126861242 (R396W +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | LOC126861242, NDUFV1 (T423M +1 more) | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency +4 more | GPathogenic/Likely pathogenic |
| | LOC126861242, NDUFV1 (R443W +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | LOC126861242, NDUFV1 (R460W +1 more) | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency +5 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency, nuclear type 1 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | LOC130062145, NDUFV2 (A6G) | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency, nuclear type 1 +2 more | GConflicting classifications of pathogenicity |
| | LOC130062145, NDUFV2 (R10L) | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | LOC130065433, NDUFAF5 (N45K) | Single nucleotide variant (5 prime UTR variant +2 more) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | LOC130065433, NDUFAF5 (A59E) | Single nucleotide variant (5 prime UTR variant +2 more) | Mitochondrial complex I deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +2 more | GConflicting classifications of pathogenicity |