"Molecular Genetics, Royal Melbourne Hospital"[submitter] AND "EPHB4"[ - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068705	NM_004444.5(EPHB4):c.2915C>A (p.Ala972Asp)	EPHB4 (A972D)	Single nucleotide variant (missense variant)	EPHB4-associated vascular malformation spectrum	GUncertain significance
Select item 590874	NM_004444.5(EPHB4):c.2484+1G>A	EPHB4, LOC126860124	Single nucleotide variant (splice donor variant)	Capillary malformation-arteriovenous malformation 2 +1 more	GPathogenic/Likely pathogenic
Select item 3068696	NM_004444.5(EPHB4):c.2467del (p.Asp823fs)	EPHB4, LOC126860124 (D823fs)	Deletion (frameshift variant)	EPHB4-associated vascular malformation spectrum	GLikely pathogenic
Select item 1678587	NM_004444.5(EPHB4):c.2287C>T (p.Arg763Ter)	EPHB4 (R763*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GPathogenic
Select item 1678598	NM_004444.5(EPHB4):c.2164C>T (p.Arg722Trp)	EPHB4 (R722W)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 2	GUncertain significance
Select item 1693572	NM_004444.5(EPHB4):c.1190G>A (p.Arg397His)	EPHB4 (R397H)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 2	GUncertain significance
Select item 1678612	NM_004444.5(EPHB4):c.1153dup (p.Asp385fs)	EPHB4 (D385fs)	Duplication (frameshift variant)	Capillary malformation-arteriovenous malformation 2	GLikely pathogenic
Select item 1678591	NM_004444.5(EPHB4):c.1093C>T (p.Arg365Ter)	EPHB4 (R365*)	Single nucleotide variant (nonsense)	Capillary malformation-arteriovenous malformation 2 +1 more	GPathogenic
Select item 1678623	NM_004444.5(EPHB4):c.410A>T (p.Lys137Met)	EPHB4 (K137M)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 2	GLikely pathogenic