| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex 1 deficiency, nuclear type 19 | |
| | | Duplication (frameshift variant +2 more) | Mitochondrial complex 1 deficiency, nuclear type 19 | |
| | | Single nucleotide variant (nonsense +1 more) | Mitochondrial complex 1 deficiency, nuclear type 19 | |
| | | Single nucleotide variant (splice acceptor variant) | Mitochondrial complex 1 deficiency, nuclear type 19 | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex 1 deficiency, nuclear type 19 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Deletion (inframe_deletion +1 more) | Mitochondrial complex 1 deficiency, nuclear type 19 | |
| | FOXRED1, LOC130007026 (M1V) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | FOXRED1, LOC130007026 (R17Q) | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex 1 deficiency, nuclear type 19 +2 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Mitochondrial complex 1 deficiency, nuclear type 19 | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex 1 deficiency, nuclear type 19 | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex 1 deficiency, nuclear type 19 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex I deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Leigh syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Leigh syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Leigh syndrome +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex 1 deficiency, nuclear type 19 | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +3 more | |