| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Mitochondrial complex II deficiency, nuclear type 1 +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Paragangliomas 5 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Paragangliomas 5 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +4 more | |
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