| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant) | Capillary malformation-arteriovenous malformation syndrome +2 more | |
| | CCNH, RASA1 (R285* +1 more) | Single nucleotide variant (nonsense +1 more) | Vascular malformation +2 more | |
| | CCNH, RASA1 (S123G +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation 1 | |
| | CCNH, RASA1 (T453fs +1 more) | Microsatellite (frameshift variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | GPathogenic/Likely pathogenic |
| | CCNH, RASA1 (E602del +1 more) | Microsatellite (intron variant) | Capillary malformation-arteriovenous malformation 1 +1 more | GConflicting classifications of pathogenicity |
| | CCNH, RASA1 (L596P +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation 1 | |
| | CCNH, RASA1 (R789* +1 more) | Single nucleotide variant (nonsense +1 more) | Vascular malformation +2 more | |
| | CCNH, RASA1 (I925V +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +2 more | |
Click to view in NCBI Gene