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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCNH, RASA1
(L205fs +1 more)
Deletion
(frameshift variant +1 more)
Capillary malformation-arteriovenous malformation 1
+2 more
GPathogenic
CCNH, RASA1
Single nucleotide variant
(splice acceptor variant +1 more)
Capillary malformation-arteriovenous malformation 1
GLikely pathogenic
CCNH, RASA1
(R285* +1 more)
Single nucleotide variant
(nonsense +1 more)
Vascular malformation
+3 more
GPathogenic
CCNH, RASA1
(Q649fs +1 more)
Duplication
(frameshift variant +1 more)
Capillary malformation-arteriovenous malformation 1
GPathogenic
CCNH, RASA1
(W708* +1 more)
Single nucleotide variant
(nonsense +1 more)
Capillary malformation-arteriovenous malformation 1
GPathogenic
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