| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | CCNH, RASA1 (R211G +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation 1 | |
| | CCNH, RASA1 (I224fs +1 more) | Deletion (frameshift variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
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