ClinVar Miner

List of variants in gene EPHB4, SLC12A9 studied for capillary malformation

Included ClinVar conditions (13):

Basal cell carcinoma, susceptibility to, 1; Capillary malformation-arteriovenous malformation 1
Capillary malformation
Capillary malformation-arteriovenous malformation
Capillary malformation-arteriovenous malformation 1
Capillary malformation-arteriovenous malformation 2
Capillary malformation; Sturge-Weber syndrome
Familial multiple nevi flammei
Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia type 1
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Systemic lupus erythematosus; Hereditary hemorrhagic telangiectasia type 1
Telangiectasia, hereditary hemorrhagic, type 2
Telangiectasia, hereditary hemorrhagic, type 5

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 1

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HGVS	dbSNP
NM_004444.5(EPHB4):c.33del (p.Leu12fs)	rs1562976493

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