| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Duplication (frameshift variant) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
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