| | | Single nucleotide variant (5 prime UTR variant) | Mitochondrial complex II deficiency, nuclear type 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Paragangliomas 5 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Gastrointestinal stromal tumor +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Paragangliomas 5 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Paragangliomas 5 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Paragangliomas 5 | |
| | | Single nucleotide variant (missense variant) | B-lymphoblastic leukemia/lymphoma with hypodiploidy +5 more | |
| | | Single nucleotide variant (intron variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Paragangliomas 5 +2 more | |
| | | Single nucleotide variant (missense variant) | Paragangliomas 5 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | Paragangliomas 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1GG +6 more | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1GG +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Paragangliomas 5 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Paragangliomas 5 | |
| | | Single nucleotide variant (missense variant) | Paragangliomas 5 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex II deficiency, nuclear type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1GG +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Paragangliomas 5 +6 more | |
| | | Single nucleotide variant (intron variant) | Paragangliomas 5 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Paragangliomas 5 +3 more | |
| | | Single nucleotide variant (missense variant) | Paragangliomas 5 +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Indel (missense variant) | Paragangliomas 5 +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Paragangliomas 5 +2 more | |
| | | Single nucleotide variant (missense variant) | Paragangliomas 5 +5 more | |
| | | Single nucleotide variant (missense variant) | Paragangliomas 5 +2 more | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1GG +2 more | |
| | | Single nucleotide variant (missense variant) | Paragangliomas 5 +2 more | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1GG +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Paragangliomas 5 +3 more | |
| | | Single nucleotide variant (intron variant) | Paragangliomas 5 +2 more | |
| | | Single nucleotide variant (intron variant) | Mitochondrial complex II deficiency, nuclear type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Paragangliomas 5 +2 more | |
| | | Single nucleotide variant (nonsense) | Mitochondrial complex II deficiency, nuclear type 1 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Leigh syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Paragangliomas 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Paragangliomas 5 +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1GG +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Paragangliomas 5 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Paragangliomas 5 +2 more | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |