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

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3087534	NM_144715.4(EFHB):c.2376A>C (p.Glu792Asp)	EFHB (E662D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589735	NM_144715.4(EFHB):c.2330T>C (p.Ile777Thr)	EFHB (I647T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487950	NM_144715.4(EFHB):c.2316A>T (p.Arg772Ser)	EFHB (R642S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240431	NM_144715.4(EFHB):c.2245G>T (p.Ala749Ser)	EFHB (A749S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280836	NM_144715.4(EFHB):c.2239G>C (p.Gly747Arg)	EFHB (G747R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268111	NM_144715.4(EFHB):c.2206C>T (p.Arg736Cys)	EFHB (R606C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492595	NM_144715.4(EFHB):c.1972G>A (p.Val658Ile)	EFHB (V528I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087533	NM_144715.4(EFHB):c.1949G>C (p.Cys650Ser)	EFHB (C520S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087532	NM_144715.4(EFHB):c.1942C>T (p.Pro648Ser)	EFHB (P648S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592910	NM_144715.4(EFHB):c.1924A>G (p.Ile642Val)	EFHB (I512V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087531	NM_144715.4(EFHB):c.1910A>T (p.Tyr637Phe)	EFHB (Y637F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087530	NM_144715.4(EFHB):c.1852A>G (p.Asn618Asp)	EFHB (N618D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544113	NM_144715.4(EFHB):c.1823A>G (p.Tyr608Cys)	EFHB (Y608C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487644	NM_144715.4(EFHB):c.1785G>C (p.Leu595Phe)	EFHB (L595F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087529	NM_144715.4(EFHB):c.1654C>T (p.Arg552Trp)	EFHB (R552W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275162	NM_144715.4(EFHB):c.1652T>C (p.Val551Ala)	EFHB (V421A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1206313	NM_144715.4(EFHB):c.1649C>A (p.Ala550Glu)	EFHB (A420E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223588	NM_144715.4(EFHB):c.1634G>A (p.Arg545Gln)	EFHB (R415Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087527	NM_144715.4(EFHB):c.1555C>T (p.Arg519Cys)	EFHB (R519C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087526	NM_144715.4(EFHB):c.1520A>T (p.Asn507Ile)	EFHB (N377I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087525	NM_144715.4(EFHB):c.1511A>G (p.Glu504Gly)	EFHB (E504G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087524	NM_144715.4(EFHB):c.1500T>A (p.Asp500Glu)	EFHB (D500E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548974	NM_144715.4(EFHB):c.1406A>G (p.His469Arg)	EFHB (H339R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407732	NM_144715.4(EFHB):c.1153A>G (p.Thr385Ala)	EFHB (T255A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484635	NM_144715.4(EFHB):c.1108G>T (p.Asp370Tyr)	EFHB (D370Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319818	NM_144715.4(EFHB):c.1106A>G (p.His369Arg)	EFHB (H369R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520000	NM_144715.4(EFHB):c.1099A>G (p.Lys367Glu)	EFHB (K367E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380189	NM_144715.4(EFHB):c.1082G>A (p.Arg361Gln)	EFHB (R361Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2537715	NM_144715.4(EFHB):c.955C>T (p.Pro319Ser)	EFHB (P189S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617916	NM_144715.4(EFHB):c.779G>A (p.Cys260Tyr)	EFHB (C130Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223142	NM_144715.4(EFHB):c.770G>A (p.Arg257Gln)	EFHB (R127Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087538	NM_144715.4(EFHB):c.768T>G (p.Asp256Glu)	EFHB (D256E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297378	NM_144715.4(EFHB):c.634A>G (p.Met212Val)	EFHB (M82V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295557	NM_144715.4(EFHB):c.609T>A (p.Asp203Glu)	EFHB (D73E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491317	NM_144715.4(EFHB):c.599A>G (p.Glu200Gly)	EFHB (E70G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087537	NM_144715.4(EFHB):c.574G>A (p.Val192Met)	EFHB (V62M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466564	NM_144715.4(EFHB):c.572A>G (p.Glu191Gly)	EFHB (E61G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087536	NM_144715.4(EFHB):c.556A>G (p.Ile186Val)	EFHB (I56V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214439	NM_144715.4(EFHB):c.404G>A (p.Gly135Glu)	EFHB (G135E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3087535	NM_144715.4(EFHB):c.317C>T (p.Pro106Leu)	EFHB (P106L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388313	NM_144715.4(EFHB):c.188A>C (p.Lys63Thr)	EFHB (K63T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363206	NM_144715.4(EFHB):c.133G>A (p.Glu45Lys)	EFHB (E45K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 42