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

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2273945	NM_000055.4(BCHE):c.1781G>T (p.Ser594Ile)	BCHE (S594I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3260620	NM_000055.4(BCHE):c.1777A>G (p.Thr593Ala)	BCHE (T593A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 344088	NM_000055.4(BCHE):c.1736A>G (p.Asn579Ser)	BCHE (N579S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2541468	NM_000055.4(BCHE):c.1700C>T (p.Ala567Val)	BCHE (A567V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3133361	NM_000055.4(BCHE):c.1643G>T (p.Arg548Leu)	BCHE (R548L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547829	NM_000055.4(BCHE):c.1631C>T (p.Ala544Val)	BCHE (A544V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608322	NM_000055.4(BCHE):c.1630G>C (p.Ala544Pro)	BCHE (A544P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555652	NM_000055.4(BCHE):c.1556C>T (p.Pro519Leu)	BCHE (P519L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1343601	NM_000055.4(BCHE):c.1544G>C (p.Ser515Thr)	BCHE (S515T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3133360	NM_000055.4(BCHE):c.1532C>G (p.Thr511Ser)	BCHE (T511S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604305	NM_000055.4(BCHE):c.1486G>A (p.Val496Met)	BCHE (V496M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 374940	NM_000055.4(BCHE):c.1330G>A (p.Ala444Thr)	BCHE (A444T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407567	NM_000055.4(BCHE):c.1256A>T (p.Asp419Val)	BCHE (D419V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3133359	NM_000055.4(BCHE):c.1174T>C (p.Phe392Leu)	BCHE (F392L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3133358	NM_000055.4(BCHE):c.1148A>T (p.Lys383Ile)	BCHE (K383I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219748	NM_000055.4(BCHE):c.1142G>C (p.Gly381Ala)	BCHE (G381A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545443	NM_000055.4(BCHE):c.1107C>A (p.Asn369Lys)	BCHE (N369K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620630	NM_000055.4(BCHE):c.1095C>G (p.Phe365Leu)	BCHE (F365L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3133356	NM_000055.4(BCHE):c.1087C>A (p.Pro363Thr)	BCHE (P363T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2509128	NM_000055.4(BCHE):c.922G>T (p.Val308Phe)	BCHE (V308F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322082	NM_000055.4(BCHE):c.665T>C (p.Leu222Pro)	BCHE (L222P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404273	NM_000055.4(BCHE):c.640G>A (p.Gly214Ser)	BCHE (G214S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3260619	NM_000055.4(BCHE):c.611A>G (p.Gln204Arg)	BCHE (Q204R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3133364	NM_000055.4(BCHE):c.561T>A (p.Asn187Lys)	BCHE (N187K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520678	NM_000055.4(BCHE):c.401A>G (p.Asn134Ser)	BCHE (N134S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527985	NM_000055.4(BCHE):c.394C>G (p.Pro132Ala)	BCHE (P132A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3133363	NM_000055.4(BCHE):c.343G>T (p.Asp115Tyr)	BCHE (D115Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3133362	NM_000055.4(BCHE):c.274T>G (p.Ser92Ala)	BCHE (S92A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328408	NM_000055.4(BCHE):c.259A>T (p.Thr87Ser)	BCHE (T87S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353804	NM_000055.4(BCHE):c.113A>G (p.Asn38Ser)	BCHE (N38S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3133365	NM_000055.4(BCHE):c.97A>G (p.Ile33Val)	BCHE (I33V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2324871	NM_000055.4(BCHE):c.79C>T (p.His27Tyr)	BCHE (H27Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484556	NM_000055.4(BCHE):c.71G>A (p.Gly24Glu)	BCHE (G24E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 738189	NM_000055.4(BCHE):c.67A>G (p.Ile23Val)	BCHE (I23V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2277992	NM_000055.4(BCHE):c.58T>G (p.Cys20Gly)	BCHE (C20G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603951	NM_000055.4(BCHE):c.25T>G (p.Cys9Gly)	BCHE (C9G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 36