"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC126860 - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2636571	NM_004444.5(EPHB4):c.2573_2598del (p.Gln858fs)	EPHB4, LOC126860124 (Q858fs)	Deletion (frameshift variant)	EPHB4-related disorder	GUncertain significance
Select item 2629283	NM_004444.5(EPHB4):c.2597G>A (p.Arg866His)	EPHB4, LOC126860124 (R866H)	Single nucleotide variant (missense variant)	EPHB4-related disorder	GUncertain significance
Select item 2630834	NM_004444.5(EPHB4):c.2485-1G>A	EPHB4, LOC126860124	Single nucleotide variant (splice acceptor variant)	EPHB4-related disorder	GLikely pathogenic
Select item 3035489	NM_004444.5(EPHB4):c.2485-9T>G	EPHB4, LOC126860124	Single nucleotide variant (intron variant)	EPHB4-related disorder	GLikely benign
Select item 691546	NM_004444.5(EPHB4):c.2459C>T (p.Pro820Leu)	EPHB4, LOC126860124 (P820L)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 2 +2 more	GConflicting classifications of pathogenicity
Select item 2630509	NM_004444.5(EPHB4):c.2353C>T (p.Arg785Ter)	EPHB4, LOC126860124 (R785*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar