| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Parkes Weber syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Capillary malformation-arteriovenous malformation syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Capillary malformation-arteriovenous malformation syndrome +6 more | |
| | | Single nucleotide variant (synonymous variant) | Capillary malformation-arteriovenous malformation 1 +5 more | |
| | RASA1, CCNH (L205fs +1 more) | Deletion (frameshift variant +1 more) | Capillary malformation-arteriovenous malformation 1 +2 more | |
| | CCNH, RASA1 (S219* +1 more) | Single nucleotide variant (nonsense +1 more) | Capillary malformation-arteriovenous malformation syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Basal cell carcinoma, susceptibility to, 1 +3 more | |
| | CCNH, RASA1 (R711* +1 more) | Single nucleotide variant (nonsense +1 more) | Capillary malformation-arteriovenous malformation syndrome +4 more | |
| | CCNH, RASA1 (R749* +1 more) | Single nucleotide variant (nonsense +1 more) | Capillary malformation-arteriovenous malformation syndrome +3 more | |
| | CCNH, RASA1 (I644K +1 more) | Single nucleotide variant (missense variant +1 more) | Basal cell carcinoma, susceptibility to, 1 +2 more | |
| | CCNH, RASA1 (Q1019* +1 more) | Single nucleotide variant (nonsense +1 more) | Capillary malformation-arteriovenous malformation 1 +2 more | GPathogenic/Likely pathogenic |
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