| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | NDUFV1-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC126861242, NDUFV1 (Q372* +1 more) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | LOC126861242, NDUFV1 (I439N +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | LOC126861242, NDUFV1 (E447K +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC126861242, NDUFV1 (R405fs +1 more) | Deletion (frameshift variant) | Mitochondrial complex 1 deficiency, nuclear type 4 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126861242, NDUFV1 (E399A +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126861242, NDUFV1 (R431C +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126861242, NDUFV1 (R451Q +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126861242, NDUFV1 (W424G +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126861242, NDUFV1 (R401M +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126861242, NDUFV1 (R392S +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126861242, NDUFV1 (R360C +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126861242, NDUFV1 (R369H +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126861242, NDUFV1 (F444V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126861242, NDUFV1 (E377K +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126861242, NDUFV1 (H422R +1 more) | Single nucleotide variant (missense variant) | NDUFV1-related condition +1 more | |
| | LOC126861242, NDUFV1 (V355L +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126861242, NDUFV1 (C382Y +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126861242, NDUFV1 (G379S +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126861242, NDUFV1 (T361M +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126861242, NDUFV1 (Y365H +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC126861242, NDUFV1 (L361V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | 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 | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | NDUFV1-related condition +1 more | |
| | LOC126861242, NDUFV1 (R360L +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126861242, NDUFV1 (R377L +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126861242, NDUFV1 (I354V +1 more) | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 4 +1 more | |
| | LOC126861242, NDUFV1 (R443G +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | NDUFV1, LOC126861242 (G421V +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC126861242, NDUFV1 (E408K +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | LOC126861242, NDUFV1 (V400M +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | LOC126861242, NDUFV1 (R443W +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | NDUFV1, LOC126861242 (R396W +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | LOC126861242, NDUFV1 (R443Q +1 more) | Single nucleotide variant (missense variant) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Leigh syndrome +2 more | GConflicting classifications of pathogenicity |
| | LOC126861242, NDUFV1 (P397L +1 more) | Single nucleotide variant (missense variant) | Leigh syndrome +1 more | |
| | LOC126861242, NDUFV1 (D403fs +1 more) | Duplication (frameshift variant) | Leigh syndrome +1 more | |
| | LOC126861242, NDUFV1 (E368* +1 more) | Single nucleotide variant (nonsense) | Leigh syndrome | |
| | LOC126861242, NDUFV1 (L438M +1 more) | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 4 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not specified | |
| | LOC126861242, NDUFV1 (R386H +1 more) | Single nucleotide variant (missense variant) | Leigh syndrome +4 more | GConflicting classifications of pathogenicity |