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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCNH, RASA1
Single nucleotide variant
(intron variant)
Capillary malformation-arteriovenous malformation 1
GPathogenic
CCNH, RASA1
(R285* +1 more)
Single nucleotide variant
(nonsense +1 more)
Vascular malformation
+2 more
GPathogenic
CCNH, RASA1
(R398L +1 more)
Single nucleotide variant
(missense variant +1 more)
Basal cell carcinoma, somatic
GPathogenic
CCNH, RASA1
(K223E +1 more)
Single nucleotide variant
(missense variant +1 more)
Basal cell carcinoma, somatic
GPathogenic
CCNH, RASA1
(I401V +1 more)
Single nucleotide variant
(missense variant +1 more)
Basal cell carcinoma, somatic
GPathogenic
CCNH, RASA1
(C540Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Capillary malformation-arteriovenous malformation 1
GPathogenic
CCNH, RASA1
(A753fs +1 more)
Duplication
(frameshift variant +1 more)
Capillary malformation-arteriovenous malformation 1
GPathogenic
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