"SIB Swiss Institute of Bioinformatics"[submitter] AND "LOC126860124"[ - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 691542	NM_004444.5(EPHB4):c.2621T>C (p.Leu874Pro)	LOC126860124, EPHB4 (L874P)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 2 +1 more	GUncertain significance
Select item 691553	NM_004444.5(EPHB4):c.2609T>A (p.Val870Glu)	EPHB4, LOC126860124 (V870E)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 2	GUncertain significance
Select item 691536	NM_004444.5(EPHB4):c.2599T>C (p.Phe867Leu)	EPHB4, LOC126860124 (F867L)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 2 +1 more	GConflicting classifications of pathogenicity
Select item 691551	NM_004444.5(EPHB4):c.2590C>T (p.Arg864Trp)	EPHB4, LOC126860124 (R864W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 691534	NM_004444.5(EPHB4):c.2567G>A (p.Cys856Tyr)	EPHB4, LOC126860124 (C856Y)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 2 +1 more	GConflicting classifications of pathogenicity
Select item 691533	NM_004444.5(EPHB4):c.2533T>C (p.Cys845Arg)	EPHB4, LOC126860124 (C845R)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely pathogenic
Select item 691550	NM_004444.5(EPHB4):c.2512C>T (p.Arg838Trp)	EPHB4, LOC126860124 (R838W)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 2 +1 more	GConflicting classifications of pathogenicity
Select item 691546	NM_004444.5(EPHB4):c.2459C>T (p.Pro820Leu)	EPHB4, LOC126860124 (P820L)	Single nucleotide variant (missense variant)	EPHB4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 691547	NM_004444.5(EPHB4):c.2458C>A (p.Pro820Thr)	EPHB4, LOC126860124 (P820T)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 2	GUncertain significance
Select item 691539	NM_004444.5(EPHB4):c.2419G>A (p.Gly807Arg)	EPHB4, LOC126860124 (G807R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 620197	NM_004444.5(EPHB4):c.2418C>G (p.Tyr806Ter)	EPHB4, LOC126860124 (Y806*)	Single nucleotide variant (nonsense)	Capillary malformation-arteriovenous malformation 2 +1 more	GPathogenic/Likely pathogenic
Select item 590869	NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly)	EPHB4, LOC126860124 (D802G)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 2	GLikely pathogenic
Select item 691544	NM_004444.5(EPHB4):c.2366C>G (p.Pro789Arg)	EPHB4, LOC126860124 (P789R)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 2 +1 more	GUncertain significance
Select item 691545	NM_004444.5(EPHB4):c.2365C>T (p.Pro789Ser)	EPHB4, LOC126860124 (P789S)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 2	GUncertain significance