| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | CCNH, RASA1 (R196K +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +4 more | |
| | CCNH, RASA1 (I206T +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | CCNH, RASA1 (E208K +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | CCNH, RASA1 (I55V +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | GConflicting classifications of pathogenicity |
| | CCNH, RASA1 (M235V +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +1 more | |
| | CCNH, RASA1 (K267T +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | CCNH, RASA1 (R106H +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | CCNH, RASA1 (P112A +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | CCNH, RASA1 (D295E +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +2 more | GConflicting classifications of pathogenicity |
| | CCNH, RASA1 (F124L +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | RASA1, CCNH (M306T +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | CCNH, RASA1 (M141I +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | CCNH, RASA1 (E161D +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | CCNH, RASA1 (R164Q +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | CCNH, RASA1 (K172R +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | CCNH, RASA1 (I179T +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | CCNH, RASA1 (K181R +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | CCNH, RASA1 (Q182L +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | GConflicting classifications of pathogenicity |
| | CCNH, RASA1 (N186S +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | CCNH, RASA1 (R214Q +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +3 more | |
| | CCNH, RASA1 (N230Y +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | CCNH, RASA1 (M410V +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | CCNH, RASA1 (G412E +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | CCNH, RASA1 (R237Q +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | |
| | CCNH, RASA1 (I246V +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | GConflicting classifications of pathogenicity |
| | CCNH, RASA1 (R250G +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Parkes Weber syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | CCNH, RASA1 (P442S +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | GConflicting classifications of pathogenicity |
| | CCNH, RASA1 (M443V +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | |
| | CCNH, RASA1 (D445N +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | CCNH, RASA1 (L450F +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +2 more | |
| | CCNH, RASA1 (T453I +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | CCNH, RASA1 (D455H +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation 1 +5 more | |
| | CCNH, RASA1 (E281A +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | CCNH, RASA1 (A470G +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | GConflicting classifications of pathogenicity |
| | CCNH, RASA1 (I298V +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | GConflicting classifications of pathogenicity |
| | CCNH, RASA1 (Y303H +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Deletion (intron variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | CCNH, RASA1 (L316V +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Parkes Weber syndrome +4 more | |
| | CCNH, RASA1 (A325S +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | CCNH, RASA1 (S346G +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | CCNH, RASA1 (Y528C +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation 1 +5 more | GConflicting classifications of pathogenicity |
| | CCNH, RASA1 (H354Q +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +1 more | |
| | CCNH, RASA1 (P538R +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | CCNH, RASA1 (N539H +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | CCNH, RASA1 (H552Y +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +1 more | |
| | CCNH, RASA1 (A558E +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | CCNH, RASA1 (P385Q +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +2 more | |
| | CCNH, RASA1 (R579Q +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | CCNH, RASA1 (S405C +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | CCNH, RASA1 (K411Q +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | CCNH, RASA1 (Q592K +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | CCNH, RASA1 (L620P +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | CCNH, RASA1 (H452L +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | CCNH, RASA1 (V466fs +1 more) | Duplication (frameshift variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
| | CCNH, RASA1 (E655fs +1 more) | Deletion (frameshift variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +1 more | |
| | CCNH, RASA1 (D669G +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (splice donor variant +1 more) | Cardiovascular phenotype | |
| | CCNH, RASA1 (R674C +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +2 more | GConflicting classifications of pathogenicity |
| | CCNH, RASA1 (R497H +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | |