| | | Deletion | Neurodegeneration with ataxia and late-onset optic atrophy | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with ataxia and late-onset optic atrophy +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Deletion (frameshift variant) | Paragangliomas 5 +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant +1 more) | Mitochondrial complex II deficiency, nuclear type 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Deletion (frameshift variant) | Mitochondrial complex II deficiency, nuclear type 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant) | Leigh syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex II deficiency, nuclear type 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with ataxia and late-onset optic atrophy +3 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Mitochondrial complex II deficiency, nuclear type 1 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial complex II deficiency, nuclear type 1 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial complex II deficiency, nuclear type 1 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Paragangliomas 5 +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Paragangliomas 5 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Paragangliomas 5 +2 more | |
| | | Deletion (frameshift variant +1 more) | Paragangliomas 5 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex II deficiency, nuclear type 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with ataxia and late-onset optic atrophy +4 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex II deficiency, nuclear type 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex II deficiency, nuclear type 1 +5 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial complex II deficiency, nuclear type 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex II deficiency, nuclear type 1 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex II deficiency, nuclear type 1 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Paragangliomas 5 +4 more | |
| | | Single nucleotide variant (missense variant) | Paragangliomas 5 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Paragangliomas 5 +4 more | |
| | | Single nucleotide variant (missense variant) | Paragangliomas 5 +5 more | |
| | | Deletion (frameshift variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex II deficiency, nuclear type 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex II deficiency, nuclear type 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex II deficiency, nuclear type 1 +5 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex II deficiency, nuclear type 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex II deficiency, nuclear type 1 +5 more | |
| | | Deletion (splice donor variant) | Mitochondrial complex II deficiency, nuclear type 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1GG +5 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex II deficiency, nuclear type 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (intron variant) | Neurodegeneration with ataxia and late-onset optic atrophy +4 more | |
| | | Single nucleotide variant (nonsense) | Mitochondrial complex II deficiency, nuclear type 1 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Paragangliomas 5 +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1GG +5 more | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1GG +6 more | |
| | | Deletion (splice donor variant) | Hereditary cancer-predisposing syndrome +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Paragangliomas 5 +5 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Mitochondrial complex II deficiency, nuclear type 1 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1GG +6 more | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1GG +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Paragangliomas 5 +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Neurodegeneration with ataxia and late-onset optic atrophy +8 more | |
| | | Single nucleotide variant (intron variant) | Paragangliomas 5 +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | |