| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Paragangliomas 1 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Pheochromocytoma +7 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Hereditary cancer-predisposing syndrome +9 more | |
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial complex II deficiency, nuclear type 1 +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | Paragangliomas 1 +9 more | |
Click to view in NCBI Gene