| | | Single nucleotide variant (missense variant +3 more) | Mitochondrial complex III deficiency nuclear type 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Mitochondrial complex III deficiency nuclear type 1 | |
| | | Single nucleotide variant (missense variant +3 more) | Mitochondrial complex III deficiency nuclear type 1 | |
| | | Insertion (frameshift variant +1 more) | Pili torti-deafness syndrome +2 more | |
| | | Insertion (frameshift variant +3 more) | Pili torti-deafness syndrome +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Pili torti-deafness syndrome +2 more | |
| | | Single nucleotide variant (nonsense +2 more) | Pili torti-deafness syndrome +2 more | |
| | | Insertion (frameshift variant +3 more) | Pili torti-deafness syndrome +2 more | |
| | | Insertion (frameshift variant +1 more) | Pili torti-deafness syndrome +2 more | |
| | | Deletion (frameshift variant +1 more) | Pili torti-deafness syndrome +2 more | |
| | | Single nucleotide variant (splice donor variant) | Mitochondrial complex III deficiency nuclear type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Pili torti-deafness syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pili torti-deafness syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex III deficiency nuclear type 1 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex III deficiency nuclear type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex III deficiency nuclear type 1 +3 more | |
| | | Single nucleotide variant (missense variant +3 more) | Pili torti-deafness syndrome +3 more | |
| | | Deletion (frameshift variant +1 more) | Mitochondrial complex III deficiency nuclear type 1 +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Mitochondrial complex III deficiency nuclear type 1 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Pili torti-deafness syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leigh syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | GRACILE syndrome +2 more | |
| | | Single nucleotide variant (nonsense +3 more) | Pili torti-deafness syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | GRACILE syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +3 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +3 more) | Mitochondrial complex III deficiency nuclear type 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +3 more) | Mitochondrial complex III deficiency nuclear type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | GRACILE syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Leigh syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +3 more) | Leigh syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +3 more) | Leigh syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Pili torti-deafness syndrome +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | Pili torti-deafness syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +3 more) | GRACILE syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | GRACILE syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Mitochondrial complex III deficiency nuclear type 1 +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 1 | |
| | | Deletion (5 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Mitochondrial complex III deficiency nuclear type 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Mitochondrial complex III deficiency nuclear type 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +3 more) | Leigh syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | Mitochondrial complex III deficiency nuclear type 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Mitochondrial complex III deficiency nuclear type 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Leigh syndrome +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Mitochondrial complex III deficiency nuclear type 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 1 | |
| | | Indel (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 1 | |
| | | Duplication (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 1 | |
| | | Deletion (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 1 | |
| | | Duplication (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 1 | |
| | | Duplication (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 1 | |
| | | Duplication (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 1 | |
| | | Duplication (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 1 | |
| | | Duplication (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 1 | |
| | | Duplication (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 1 | |
| | | Duplication (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 1 | |
| | | Deletion (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 1 | |
| | | Deletion (inframe_indel) | Mitochondrial complex III deficiency nuclear type 1 | |
| | | Single nucleotide variant | Mitochondrial complex III deficiency nuclear type 1 +1 more | |
| | | Single nucleotide variant | Mitochondrial complex III deficiency nuclear type 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 1 +1 more | GConflicting classifications of pathogenicity |
| | LOC130060310, TTC19 +1 more | Single nucleotide variant (5 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 1 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | LOC130060309, TTC19 +1 more | Single nucleotide variant (intron variant) | Mitochondrial complex III deficiency nuclear type 1 | |
| | LOC130060309, TTC19 +1 more | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex III deficiency nuclear type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | Mitochondrial complex III deficiency nuclear type 1 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +3 more) | Mitochondrial complex III deficiency nuclear type 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Leigh syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Mitochondrial complex III deficiency nuclear type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 1 +2 more | |
| | | Single nucleotide variant (intron variant) | Mitochondrial complex III deficiency nuclear type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Mitochondrial complex III deficiency nuclear type 1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mitochondrial complex III deficiency nuclear type 1 +5 more | |
| | | Single nucleotide variant (intron variant) | GRACILE syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mitochondrial complex III deficiency nuclear type 1 +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex III deficiency nuclear type 1 +5 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Mitochondrial complex III deficiency nuclear type 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex III deficiency nuclear type 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +3 more) | Mitochondrial complex III deficiency nuclear type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Pili torti-deafness syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (nonsense +3 more) | GRACILE syndrome +5 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +3 more) | Pili torti-deafness syndrome +3 more | |