"Clinical Genomics Laboratory, Washington University in St. Louis"[sub - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237427	NM_004444.5(EPHB4):c.2785G>A (p.Ala929Thr)	EPHB4 (A929T)	Single nucleotide variant (missense variant)	Lymphatic malformation 7	GUncertain significance
Select item 2494726	NM_004444.5(EPHB4):c.2576A>G (p.Lys859Arg)	EPHB4, LOC126860124 (K859R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2521643	NM_004444.5(EPHB4):c.2522C>T (p.Pro841Leu)	EPHB4, LOC126860124 (P841L)	Single nucleotide variant (missense variant)	Lymphatic malformation 7 +1 more	GConflicting classifications of pathogenicity
Select item 3237422	NM_004444.5(EPHB4):c.2270_2271dup (p.Asp758fs)	EPHB4 (D758fs)	Duplication (frameshift variant)	Capillary malformation-arteriovenous malformation 2	GLikely pathogenic
Select item 2672234	NM_004444.5(EPHB4):c.2213A>G (p.His738Arg)	EPHB4 (H738R)	Single nucleotide variant (missense variant)	Lymphatic malformation 7	GUncertain significance
Select item 2981375	NM_004444.5(EPHB4):c.896C>T (p.Ser299Leu)	EPHB4 (S299L)	Single nucleotide variant (missense variant)	Lymphatic malformation 7 +1 more	GUncertain significance
Select item 3237425	NM_004444.5(EPHB4):c.814G>T (p.Ala272Ser)	EPHB4 (A272S)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 2	GUncertain significance
Select item 3238641	NM_004444.5(EPHB4):c.758G>A (p.Cys253Tyr)	EPHB4 (C253Y)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 2	GUncertain significance