"Ambry Genetics"[submitter] AND "LOC126860124"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1597847	NM_004444.5(EPHB4):c.2677G>A (p.Gly893Arg)	EPHB4, LOC126860124 (G893R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1794583	NM_004444.5(EPHB4):c.2673T>C (p.Asn891=)	EPHB4, LOC126860124	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 774194	NM_004444.5(EPHB4):c.2670G>T (p.Glu890Asp)	EPHB4, LOC126860124 (E890D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 1794499	NM_004444.5(EPHB4):c.2666G>A (p.Arg889Gln)	LOC126860124, EPHB4 (R889Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 708483	NM_004444.5(EPHB4):c.2658C>T (p.Ile886=)	EPHB4, LOC126860124	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign
Select item 768187	NM_004444.5(EPHB4):c.2644G>A (p.Ala882Thr)	EPHB4, LOC126860124 (A882T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1794214	NM_004444.5(EPHB4):c.2643C>A (p.Pro881=)	EPHB4, LOC126860124	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1679471	NM_004444.5(EPHB4):c.2635C>T (p.Arg879Trp)	LOC126860124, EPHB4 (R879W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2336257	NM_004444.5(EPHB4):c.2620C>G (p.Leu874Val)	EPHB4, LOC126860124 (L874V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1793859	NM_004444.5(EPHB4):c.2616C>T (p.Ser872=)	EPHB4, LOC126860124	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2494726	NM_004444.5(EPHB4):c.2576A>G (p.Lys859Arg)	EPHB4, LOC126860124 (K859R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2242753	NM_004444.5(EPHB4):c.2534G>C (p.Cys845Ser)	EPHB4, LOC126860124 (C845S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1792570	NM_004444.5(EPHB4):c.2523G>A (p.Pro841=)	EPHB4, LOC126860124	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2521643	NM_004444.5(EPHB4):c.2522C>T (p.Pro841Leu)	EPHB4, LOC126860124 (P841L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1792457	NM_004444.5(EPHB4):c.2515C>T (p.Leu839=)	LOC126860124, EPHB4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 1792004	NM_004444.5(EPHB4):c.2487G>T (p.Val829=)	EPHB4, LOC126860124	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1791631	NM_004444.5(EPHB4):c.2460G>A (p.Pro820=)	EPHB4, LOC126860124	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1791558	NM_004444.5(EPHB4):c.2457G>A (p.Arg819=)	EPHB4, LOC126860124	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2565152	NM_004444.5(EPHB4):c.2451G>A (p.Gly817=)	EPHB4, LOC126860124	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1791431	NM_004444.5(EPHB4):c.2448T>G (p.Phe816Leu)	EPHB4, LOC126860124 (F816L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2258653	NM_004444.5(EPHB4):c.2428A>G (p.Met810Val)	LOC126860124, EPHB4 (M810V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1790965	NM_004444.5(EPHB4):c.2418C>T (p.Tyr806=)	EPHB4, LOC126860124	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2450405	NM_004444.5(EPHB4):c.2417A>T (p.Tyr806Phe)	EPHB4, LOC126860124 (Y806F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2450403	NM_004444.5(EPHB4):c.2406T>C (p.Asp802=)	EPHB4, LOC126860124	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1790636	NM_004444.5(EPHB4):c.2397del (p.Ala800fs)	EPHB4, LOC126860124 (A800fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 1790635	NM_004444.5(EPHB4):c.2397C>T (p.Ser799=)	EPHB4, LOC126860124	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1790323	NM_004444.5(EPHB4):c.2373C>T (p.Ala791=)	EPHB4, LOC126860124	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1790233	NM_004444.5(EPHB4):c.2367G>A (p.Pro789=)	EPHB4, LOC126860124	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1789997	NM_004444.5(EPHB4):c.2350A>G (p.Ile784Val)	EPHB4, LOC126860124 (I784V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1789954	NM_004444.5(EPHB4):c.2349C>G (p.Pro783=)	EPHB4, LOC126860124	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign

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Items: 30