| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (nonsense) | Dilated cardiomyopathy 1GG +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 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) | Paragangliomas 5 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex II deficiency, nuclear type 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Paragangliomas 5 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodegeneration with ataxia and late-onset optic atrophy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1GG +5 more | GPathogenic/Likely pathogenic |
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