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

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2403730	NM_002569.4(FURIN):c.148C>T (p.Arg50Trp)	FURIN (R50W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2563482	NM_002569.4(FURIN):c.218C>T (p.Thr73Met)	FURIN (T73M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569260	NM_002569.4(FURIN):c.242G>A (p.Arg81His)	FURIN (R81H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234727	NM_002569.4(FURIN):c.350A>C (p.Lys117Thr)	FURIN (K117T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466052	NM_002569.4(FURIN):c.407C>T (p.Ala136Val)	FURIN (A136V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343559	NM_002569.4(FURIN):c.416C>T (p.Ala139Val)	FURIN (A139V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395335	NM_002569.4(FURIN):c.433C>T (p.His145Tyr)	FURIN (H145Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388762	NM_002569.4(FURIN):c.505C>A (p.Pro169Thr)	FURIN (P169T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554480	NM_002569.4(FURIN):c.619A>C (p.Asn207His)	FURIN (N207H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600801	NM_002569.4(FURIN):c.827G>A (p.Arg276His)	FURIN (R276H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479665	NM_002569.4(FURIN):c.919G>A (p.Gly307Ser)	FURIN (G307S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261505	NM_002569.4(FURIN):c.932G>T (p.Ser311Ile)	FURIN (S311I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383666	NM_002569.4(FURIN):c.952A>G (p.Ser318Gly)	FURIN (S318G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454588	NM_002569.4(FURIN):c.1007C>T (p.Thr336Ile)	FURIN (T336I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282364	NM_002569.4(FURIN):c.1192G>T (p.Val398Leu)	FURIN (V398L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611626	NM_002569.4(FURIN):c.1207C>T (p.Pro403Ser)	FURIN (P403S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382248	NM_002569.4(FURIN):c.1220A>G (p.Asn407Ser)	FURIN (N407S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243264	NM_002569.4(FURIN):c.1234G>T (p.Ala412Ser)	FURIN (A412S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525090	NM_002569.4(FURIN):c.1342C>T (p.Arg448Trp)	FURIN (R448W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515854	NM_002569.4(FURIN):c.1357G>A (p.Asp453Asn)	FURIN (D453N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616852	NM_002569.4(FURIN):c.1417G>A (p.Ala473Thr)	FURIN (A473T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097450	NM_002569.4(FURIN):c.1432C>T (p.Pro478Ser)	FURIN (P478S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288629	NM_002569.4(FURIN):c.1489C>T (p.Arg497Cys)	FURIN (R497C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097451	NM_002569.4(FURIN):c.1507A>G (p.Ile503Val)	FURIN (I503V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541972	NM_002569.4(FURIN):c.1519A>T (p.Ser507Cys)	FURIN (S507C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280175	NM_002569.4(FURIN):c.1522C>G (p.Pro508Ala)	FURIN (P508A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599268	NM_002569.4(FURIN):c.1534C>A (p.Arg512Ser)	FURIN (R512S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248007	NM_002569.4(FURIN):c.1535G>A (p.Arg512His)	FURIN (R512H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333109	NM_002569.4(FURIN):c.1602G>A (p.Met534Ile)	FURIN (M534I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322043	NM_002569.4(FURIN):c.1606A>T (p.Thr536Ser)	FURIN (T536S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407167	NM_002569.4(FURIN):c.1654G>C (p.Glu552Gln)	FURIN (E552Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341641	NM_002569.4(FURIN):c.1666G>A (p.Glu556Lys)	FURIN (E556K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097453	NM_002569.4(FURIN):c.1708C>T (p.Leu570Phe)	FURIN (L570F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608954	NM_002569.4(FURIN):c.1874C>T (p.Thr625Met)	FURIN (R624C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527942	NM_002569.4(FURIN):c.2075C>T (p.Pro692Leu)	FURIN (P692L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2385920	NM_002569.4(FURIN):c.2078G>A (p.Arg693Gln)	FURIN (R693Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3097455	NM_002569.4(FURIN):c.2113C>T (p.Arg705Trp)	FURIN (R705W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3280174	NM_002569.4(FURIN):c.2176G>C (p.Val726Leu)	FURIN (V726L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2521699	NM_002569.4(FURIN):c.2260C>T (p.Arg754Cys)	FURIN (R754C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2479967	NM_002569.4(FURIN):c.2261G>A (p.Arg754His)	FURIN (R754H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2362356	NM_002569.4(FURIN):c.2315C>T (p.Pro772Leu)	FURIN (P772L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2470806	NM_002569.4(FURIN):c.2342G>A (p.Arg781Gln)	FURIN (R781Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2223497	NM_002569.4(FURIN):c.2377G>A (p.Ala793Thr)	FURIN (A793T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

ClinVar

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Items: 43