| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Capillary malformation-arteriovenous malformation syndrome +2 more | GConflicting classifications of pathogenicity |
| | CCNH, RASA1 (I641fs +1 more) | Deletion (frameshift variant +1 more) | Capillary malformation-arteriovenous malformation 1 | |
| | CCNH, RASA1 (N667fs +1 more) | Indel (frameshift variant +1 more) | Capillary malformation-arteriovenous malformation 1 | |
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