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Items: 1 to 100 of 197

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GLikely benign
CCNH, RASA1
(R196K +1 more)
Single nucleotide variant
(missense variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GUncertain significance
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+4 more
GBenign/Likely benign
CCNH, RASA1
(I206T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
CCNH, RASA1
(E208K +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GLikely benign
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
GUncertain significance
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
CCNH, RASA1
(K267T +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GLikely benign
CCNH, RASA1
(R106H +1 more)
Single nucleotide variant
(missense variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GUncertain significance
CCNH, RASA1
(P112A +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
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
GUncertain significance
RASA1, CCNH
(M306T +1 more)
Single nucleotide variant
(missense variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+2 more
GUncertain significance
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GLikely benign
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GLikely benign
CCNH, RASA1
(M141I +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
CCNH, RASA1
(E161D +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
CCNH, RASA1
(R164Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GLikely benign
CCNH, RASA1
(K172R +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
CCNH, RASA1
(I179T +1 more)
Single nucleotide variant
(missense variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GUncertain significance
CCNH, RASA1
(K181R +1 more)
Single nucleotide variant
(missense variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GUncertain significance
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
GBenign
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GLikely benign
CCNH, RASA1
(R214Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GUncertain significance
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+3 more
GLikely benign
CCNH, RASA1
(N230Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GUncertain significance
CCNH, RASA1
(M410V +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
CCNH, RASA1
(G412E +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
CCNH, RASA1
(R237Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
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
GUncertain significance
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GLikely benign
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Parkes Weber syndrome
+3 more
GConflicting classifications of pathogenicity
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GLikely benign
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
GUncertain significance
CCNH, RASA1
(D445N +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GLikely benign
CCNH, RASA1
(L450F +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GLikely benign
CCNH, RASA1
(T453I +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GLikely benign
CCNH, RASA1
(D455H +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Capillary malformation-arteriovenous malformation 1
+5 more
GBenign/Likely benign
CCNH, RASA1
(E281A +1 more)
Single nucleotide variant
(missense variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GUncertain significance
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GLikely benign
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
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
GUncertain significance
CCNH, RASA1
Deletion
(intron variant)
Cardiovascular phenotype
GLikely pathogenic
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
CCNH, RASA1
(L316V +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Parkes Weber syndrome
+4 more
GBenign/Likely benign
CCNH, RASA1
(A325S +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GLikely benign
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
CCNH, RASA1
(S346G +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GLikely benign
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
GUncertain significance
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GLikely benign
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
CCNH, RASA1
(P538R +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
CCNH, RASA1
(N539H +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
CCNH, RASA1
(H552Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
CCNH, RASA1
(A558E +1 more)
Single nucleotide variant
(missense variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GUncertain significance
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
CCNH, RASA1
(P385Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+2 more
GLikely benign
CCNH, RASA1
(R579Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GUncertain significance
CCNH, RASA1
(S405C +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
CCNH, RASA1
(K411Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GUncertain significance
CCNH, RASA1
(Q592K +1 more)
Single nucleotide variant
(missense variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GUncertain significance
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GLikely benign
CCNH, RASA1
(L620P +1 more)
Single nucleotide variant
(missense variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GUncertain significance
CCNH, RASA1
(H452L +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GLikely benign
CCNH, RASA1
(V466fs +1 more)
Duplication
(frameshift variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GPathogenic
CCNH, RASA1
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
GPathogenic
CCNH, RASA1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GBenign/Likely benign
CCNH, RASA1
(D669G +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
CCNH, RASA1
Single nucleotide variant
(splice donor variant +1 more)
Cardiovascular phenotype
GLikely pathogenic
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
GUncertain significance
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