| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | CCNH, RASA1 (L205fs +1 more) | Deletion (frameshift variant +1 more) | Capillary malformation-arteriovenous malformation 1 +2 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Capillary malformation-arteriovenous malformation 1 | |
| | CCNH, RASA1 (R285* +1 more) | Single nucleotide variant (nonsense +1 more) | Vascular malformation +3 more | |
| | CCNH, RASA1 (Q649fs +1 more) | Duplication (frameshift variant +1 more) | Capillary malformation-arteriovenous malformation 1 | |
| | CCNH, RASA1 (W708* +1 more) | Single nucleotide variant (nonsense +1 more) | Capillary malformation-arteriovenous malformation 1 | |
Click to view in NCBI Gene