| | CCNH, RASA1 (E687* +1 more) | Single nucleotide variant (nonsense +1 more) | Capillary malformation-arteriovenous malformation 1 | |
| | CCNH, RASA1 (L262F +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (splice donor variant +1 more) | Capillary malformation-arteriovenous malformation 1 | |
| | CCNH, RASA1 (Q504fs +1 more) | Duplication (frameshift variant +1 more) | Capillary malformation-arteriovenous malformation 1 | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Capillary malformation-arteriovenous malformation 1 | |
| | CCNH, RASA1 (L320fs +1 more) | Duplication (frameshift variant +1 more) | Capillary malformation-arteriovenous malformation 1 | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Capillary malformation-arteriovenous malformation 1 | |
| | | Deletion (splice donor variant +1 more) | Capillary malformation-arteriovenous malformation 1 | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Capillary malformation-arteriovenous malformation 1 | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Capillary malformation-arteriovenous malformation 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | CCNH, RASA1 (D445N +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Deletion (splice donor variant +1 more) | Capillary malformation-arteriovenous malformation 1 | |
| | | Duplication (splice donor variant +1 more) | not provided | |
| | CCNH, RASA1 (C439Y +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (splice donor variant +1 more) | not provided | |
| | CCNH, RASA1 (R17H +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation 1 | |
| | CCNH, RASA1 (L596P +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation 1 | |
| | CCNH, RASA1 (S123G +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation 1 | |
| | | Copy number loss | 5q14.3 microdeletion | |
| | CCNH, RASA1 (P112A +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | CCNH, RASA1 (E208K +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | CCNH, RASA1 (S810C +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | CCNH, RASA1 (A636V +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | CCNH, RASA1 (E600G +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | CCNH, RASA1 (C498Y +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | CCNH, RASA1 (S405C +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | | Deletion (intron variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | CCNH, RASA1 (E161D +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | CCNH, RASA1 (C828S +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | RASA1-related disorder | |
| | CCNH, RASA1 (A325V +1 more) | Single nucleotide variant (missense variant +1 more) | RASA1-related disorder | |
| | CCNH, RASA1 (R530H +1 more) | Single nucleotide variant (missense variant +1 more) | RASA1-related disorder | |
| | CCNH, RASA1 (S742L +1 more) | Single nucleotide variant (missense variant +1 more) | RASA1-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (intron variant) | Capillary malformation-arteriovenous malformation syndrome | |
| | CCNH, RASA1 (Y436N +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (intron variant) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | CCNH, RASA1 (R19T +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (splice donor variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | CCNH, RASA1 (H518Y +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (intron variant) | Capillary malformation-arteriovenous malformation syndrome | |
| | CCNH, RASA1 (Q676L +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | GConflicting classifications of pathogenicity |
| | CCNH, RASA1 (I55V +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | GConflicting classifications of pathogenicity |
| | CCNH, RASA1 (D278N +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (intron variant) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | CCNH, RASA1 (T666A +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | CCNH, RASA1 (D816G +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (intron variant) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | CCNH, RASA1 (E720D +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | CCNH, RASA1 (T408I +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | CCNH, RASA1 (Q631E +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (intron variant) | Capillary malformation-arteriovenous malformation syndrome | |
| | CCNH, RASA1 (V737A +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (intron variant) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (intron variant) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (intron variant) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Capillary malformation-arteriovenous malformation 1 +1 more | GPathogenic/Likely pathogenic |
| | CCNH, RASA1 (F809L +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | CCNH, RASA1 (V227F +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | CCNH, RASA1 (P781S +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome +1 more | |
| | | Indel (intron variant) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (intron variant) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (intron variant) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (intron variant) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Deletion (intron variant) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Duplication (intron variant) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (intron variant) | Capillary malformation-arteriovenous malformation syndrome | |
| | CCNH, RASA1 (M737I +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (intron variant) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (intron variant) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |
| | | Single nucleotide variant (intron variant) | Capillary malformation-arteriovenous malformation syndrome | |
| | CCNH, RASA1 (V1003M +1 more) | Single nucleotide variant (missense variant +1 more) | Capillary malformation-arteriovenous malformation syndrome | |