SOWAHB[gene] and "single gene"[properties] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 728739	NM_001029870.3(SOWAHB):c.2379C>A (p.Asp793Glu)	SOWAHB (D793E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2361020	NM_001029870.3(SOWAHB):c.2372A>G (p.Tyr791Cys)	SOWAHB (Y791C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321584	NM_001029870.3(SOWAHB):c.2371T>G (p.Tyr791Asp)	SOWAHB (Y791D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595590	NM_001029870.3(SOWAHB):c.2369A>T (p.Glu790Val)	SOWAHB (E790V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296607	NM_001029870.3(SOWAHB):c.2365G>C (p.Glu789Gln)	SOWAHB (E789Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347568	NM_001029870.3(SOWAHB):c.2345T>G (p.Phe782Cys)	SOWAHB (F782C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167668	NM_001029870.3(SOWAHB):c.2291C>T (p.Ala764Val)	SOWAHB (A764V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320608	NM_001029870.3(SOWAHB):c.2240C>A (p.Ala747Asp)	SOWAHB (A747D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248196	NM_001029870.3(SOWAHB):c.2203T>C (p.Tyr735His)	SOWAHB (Y735H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593055	NM_001029870.3(SOWAHB):c.2182G>T (p.Gly728Cys)	SOWAHB (G728C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320607	NM_001029870.3(SOWAHB):c.2026C>G (p.Leu676Val)	SOWAHB (L676V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313934	NM_001029870.3(SOWAHB):c.1987G>A (p.Val663Ile)	SOWAHB (V663I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455035	NM_001029870.3(SOWAHB):c.1984G>A (p.Asp662Asn)	SOWAHB (D662N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167667	NM_001029870.3(SOWAHB):c.1857C>A (p.Asp619Glu)	SOWAHB (D619E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517092	NM_001029870.3(SOWAHB):c.1802T>C (p.Ile601Thr)	SOWAHB (I601T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321581	NM_001029870.3(SOWAHB):c.1784C>G (p.Ala595Gly)	SOWAHB (A595G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167666	NM_001029870.3(SOWAHB):c.1741C>T (p.His581Tyr)	SOWAHB (H581Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167665	NM_001029870.3(SOWAHB):c.1607G>A (p.Gly536Glu)	SOWAHB (G536E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269059	NM_001029870.3(SOWAHB):c.1580C>T (p.Pro527Leu)	SOWAHB (P527L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607726	NM_001029870.3(SOWAHB):c.1362C>A (p.Ser454Arg)	SOWAHB (S454R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480400	NM_001029870.3(SOWAHB):c.1097C>G (p.Pro366Arg)	SOWAHB (P366R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321580	NM_001029870.3(SOWAHB):c.1070C>T (p.Ser357Phe)	SOWAHB (S357F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321585	NM_001029870.3(SOWAHB):c.959G>A (p.Arg320His)	SOWAHB (R320H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321582	NM_001029870.3(SOWAHB):c.820G>A (p.Ala274Thr)	SOWAHB (A274T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377500	NM_001029870.3(SOWAHB):c.754G>A (p.Val252Met)	SOWAHB (V252M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220259	NM_001029870.3(SOWAHB):c.722G>A (p.Arg241Gln)	SOWAHB (R241Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321579	NM_001029870.3(SOWAHB):c.715A>G (p.Arg239Gly)	SOWAHB (R239G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167673	NM_001029870.3(SOWAHB):c.696G>T (p.Gln232His)	SOWAHB (Q232H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385228	NM_001029870.3(SOWAHB):c.680G>C (p.Arg227Pro)	SOWAHB (R227P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243057	NM_001029870.3(SOWAHB):c.665A>G (p.Glu222Gly)	SOWAHB (E222G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363983	NM_001029870.3(SOWAHB):c.557G>A (p.Ser186Asn)	SOWAHB (S186N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337532	NM_001029870.3(SOWAHB):c.553G>A (p.Ala185Thr)	SOWAHB (A185T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167672	NM_001029870.3(SOWAHB):c.535G>T (p.Ala179Ser)	SOWAHB (A179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384868	NM_001029870.3(SOWAHB):c.499C>T (p.Pro167Ser)	SOWAHB (P167S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2214101	NM_001029870.3(SOWAHB):c.454G>A (p.Asp152Asn)	SOWAHB (D152N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366477	NM_001029870.3(SOWAHB):c.430G>A (p.Ala144Thr)	SOWAHB (A144T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291494	NM_001029870.3(SOWAHB):c.371G>A (p.Arg124Gln)	SOWAHB (R124Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545845	NM_001029870.3(SOWAHB):c.232A>G (p.Arg78Gly)	SOWAHB (R78G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167664	NM_001029870.3(SOWAHB):c.130C>T (p.His44Tyr)	SOWAHB (H44Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592803	NM_001029870.3(SOWAHB):c.125G>A (p.Ser42Asn)	SOWAHB (S42N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167670	NM_001029870.3(SOWAHB):c.50C>T (p.Ala17Val)	SOWAHB (A17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 41