| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 4 | |
| | | Deletion (frameshift variant) | Mitochondrial complex 1 deficiency, nuclear type 4 | |
| | | Duplication (frameshift variant) | Mitochondrial complex 1 deficiency, nuclear type 4 | |
| | | Deletion (frameshift variant) | Mitochondrial complex 1 deficiency, nuclear type 4 | |
| | LOC130006217, NDUFV1 (M1I) | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex 1 deficiency, nuclear type 4 | |
| | LOC130006217, NDUFV1 (M1I) | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex 1 deficiency, nuclear type 4 | |
| | | Duplication (frameshift variant) | Mitochondrial complex 1 deficiency, nuclear type 4 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | Mitochondrial complex 1 deficiency, nuclear type 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 4 | |
| | LOC126861242, NDUFV1 (R405fs +1 more) | Deletion (frameshift variant) | Mitochondrial complex 1 deficiency, nuclear type 4 | |
| | | Deletion (inframe_indel) | Mitochondrial complex 1 deficiency, nuclear type 4 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 4 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 4 | |
| | LOC126861242, NDUFV1 (G379D +1 more) | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 4 | |
| | LOC126861242, NDUFV1 (G421R +1 more) | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 4 | |
| | LOC126861242, NDUFV1 (I354V +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 4 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Mitochondrial complex 1 deficiency, nuclear type 4 | |
| | | Single nucleotide variant (nonsense) | Mitochondrial complex 1 deficiency, nuclear type 4 | |
| | | Duplication (frameshift variant) | Mitochondrial complex 1 deficiency, nuclear type 4 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency, nuclear type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC126861242, NDUFV1 (R396W +1 more) | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency, nuclear type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | LOC126861242, NDUFV1 (E368* +1 more) | Single nucleotide variant (nonsense) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +3 more | GConflicting classifications of pathogenicity |
| | LOC126861242, NDUFV1 (L438M +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | LOC126861242, NDUFV1 (R386H +1 more) | Single nucleotide variant (missense variant) | NDUFV1-related disorder +4 more | GPathogenic/Likely pathogenic |
| | LOC126861242, NDUFV1 (F373S +1 more) | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 4 | |
| | NDUFV1, LOC126861242 (R386C +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Mitochondrial complex I deficiency, nuclear type 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | LOC126861242, NDUFV1 (R460W +1 more) | Single nucleotide variant (missense variant) | Leigh syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 4 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | LOC126861242, NDUFV1 (T423M +1 more) | Single nucleotide variant (missense variant) | Leigh syndrome +4 more | GPathogenic/Likely pathogenic |