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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RASA1
(G89fs)
Deletion
(frameshift variant)
Capillary malformation-arteriovenous malformation syndrome
+2 more
GPathogenic
CCNH, RASA1
(R285* +1 more)
Single nucleotide variant
(nonsense +1 more)
Vascular malformation
+2 more
GPathogenic
CCNH, RASA1
(S123G +1 more)
Single nucleotide variant
(missense variant +1 more)
Capillary malformation-arteriovenous malformation 1
GUncertain significance
CCNH, RASA1
(T453fs +1 more)
Microsatellite
(frameshift variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+1 more
GPathogenic/Likely pathogenic
CCNH, RASA1
(E602del +1 more)
Microsatellite
(intron variant)
Capillary malformation-arteriovenous malformation 1
+1 more
GConflicting classifications of pathogenicity
CCNH, RASA1
(L596P +1 more)
Single nucleotide variant
(missense variant +1 more)
Capillary malformation-arteriovenous malformation 1
GUncertain significance
CCNH, RASA1
(R789* +1 more)
Single nucleotide variant
(nonsense +1 more)
Vascular malformation
+2 more
GPathogenic
CCNH, RASA1
(I925V +1 more)
Single nucleotide variant
(missense variant +1 more)
Capillary malformation-arteriovenous malformation syndrome
+2 more
GUncertain significance
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