ClinVar for Gene (Select 7450) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3253261	NM_000552.5(VWF):c.5443G>A (p.Ala1815Thr)	VWF (A1815T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252159	NM_000552.5(VWF):c.1855C>A (p.Arg619Ser)	VWF (R619S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251886	NM_000552.5(VWF):c.3109-18C>T	VWF	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3251859	NM_000552.5(VWF):c.532+17T>C	VWF	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3251839	NM_000552.5(VWF):c.1847C>T (p.Ser616Leu)	VWF (S616L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251682	NM_000552.5(VWF):c.6902-16C>T	VWF	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3251605	NM_000552.5(VWF):c.7329C>T (p.Phe2443=)	VWF	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3251604	NM_000552.5(VWF):c.366T>C (p.Thr122=)	VWF	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3251588	NM_000552.5(VWF):c.7377C>T (p.Ala2459=)	VWF	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 3251586	NM_000552.5(VWF):c.925G>T (p.Ala309Ser)	VWF (A309S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251569	NM_000552.5(VWF):c.55+16C>G	VWF	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3251537	NM_000552.5(VWF):c.1770C>T (p.Pro590=)	VWF	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3251389	NM_000552.5(VWF):c.5238C>T (p.Asn1746=)	VWF	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3251328	NM_000552.5(VWF):c.7074C>T (p.Phe2358=)	VWF	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3251317	NM_000552.5(VWF):c.5703C>T (p.Thr1901=)	VWF	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3239442	NM_000552.5(VWF):c.5097C>T (p.Ser1699=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3235047	NM_000552.5(VWF):c.953A>G (p.Asn318Ser)	VWF (N318S)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 3234569	NM_000552.5(VWF):c.6732G>A (p.Leu2244=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3234250	NM_000552.5(VWF):c.5285A>G (p.Gln1762Arg)	VWF (Q1762R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233873	NM_000552.5(VWF):c.2989G>A (p.Gly997Arg)	VWF (G997R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233731	NM_000552.5(VWF):c.6923A>G (p.Glu2308Gly)	VWF (E2308G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233658	NM_000552.5(VWF):c.8254-5T>G	VWF	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3233638	NM_000552.5(VWF):c.6674G>A (p.Ser2225Asn)	VWF (S2225N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233560	NM_000552.5(VWF):c.7081+12G>A	VWF	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3189464	NM_000552.5(VWF):c.8285T>C (p.Ile2762Thr)	VWF (I2762T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189462	NM_000552.5(VWF):c.8227G>A (p.Val2743Ile)	VWF (V2743I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189461	NM_000552.5(VWF):c.8129A>G (p.Lys2710Arg)	VWF (K2710R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189460	NM_000552.5(VWF):c.7540T>A (p.Trp2514Arg)	VWF (W2514R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189459	NM_000552.5(VWF):c.7525G>A (p.Asp2509Asn)	VWF (D2509N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189458	NM_000552.5(VWF):c.7321G>A (p.Gly2441Ser)	VWF (G2441S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189457	NM_000552.5(VWF):c.7282G>A (p.Asp2428Asn)	VWF (D2428N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189456	NM_000552.5(VWF):c.726C>A (p.Asp242Glu)	VWF (D242E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189455	NM_000552.5(VWF):c.7145C>T (p.Thr2382Ile)	VWF (T2382I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189454	NM_000552.5(VWF):c.6920G>A (p.Cys2307Tyr)	VWF (C2307Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189453	NM_000552.5(VWF):c.6763A>G (p.Thr2255Ala)	VWF (T2255A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189452	NM_000552.5(VWF):c.6463G>T (p.Ala2155Ser)	VWF (A2155S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189451	NM_000552.5(VWF):c.6242C>T (p.Thr2081Met)	VWF (T2081M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3189450	NM_000552.5(VWF):c.5665C>T (p.Pro1889Ser)	VWF (P1889S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189449	NM_000552.5(VWF):c.5458G>A (p.Val1820Met)	VWF (V1820M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189448	NM_000552.5(VWF):c.5389G>A (p.Val1797Ile)	VWF (V1797I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189447	NM_000552.5(VWF):c.4897A>G (p.Asn1633Asp)	VWF (N1633D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189446	NM_000552.5(VWF):c.4577A>G (p.Gln1526Arg)	VWF (Q1526R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3189445	NM_000552.5(VWF):c.4504G>A (p.Val1502Ile)	VWF (V1502I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189444	NM_000552.5(VWF):c.3746A>T (p.Asp1249Val)	VWF (D1249V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189443	NM_000552.5(VWF):c.3707C>T (p.Ala1236Val)	VWF (A1236V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189442	NM_000552.5(VWF):c.349G>A (p.Gly117Arg)	VWF (G117R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189440	NM_000552.5(VWF):c.3259G>A (p.Asp1087Asn)	VWF (D1087N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189439	NM_000552.5(VWF):c.2944G>A (p.Val982Met)	VWF (V982M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189438	NM_000552.5(VWF):c.2627T>A (p.Leu876His)	VWF (L876H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189436	NM_000552.5(VWF):c.2323G>A (p.Val775Met)	VWF (V775M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189435	NM_000552.5(VWF):c.2233G>A (p.Gly745Arg)	VWF (G745R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189434	NM_000552.5(VWF):c.1669G>A (p.Gly557Arg)	VWF (G557R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189433	NM_000552.5(VWF):c.1450C>A (p.His484Asn)	VWF (H484N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189432	NM_000552.5(VWF):c.1019G>C (p.Gly340Ala)	VWF (G340A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075979	NM_000552.5(VWF):c.1506G>A (p.Trp502Ter)	VWF (W502*)	Single nucleotide variant (nonsense)	Hereditary von Willebrand disease	GLikely pathogenic
Select item 3075940	NM_000552.5(VWF):c.1181C>G (p.Ser394Ter)	VWF (S394*)	Single nucleotide variant (nonsense)	Hereditary von Willebrand disease	GLikely pathogenic
Select item 3075892	NM_000552.5(VWF):c.2968-1G>A	VWF	Single nucleotide variant (splice acceptor variant)	Hereditary von Willebrand disease	GLikely pathogenic
Select item 3068898	NM_000552.5(VWF):c.4967C>T (p.Thr1656Met)	VWF (T1656M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068897	NM_000552.5(VWF):c.353T>C (p.Leu118Pro)	VWF (L118P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068896	NM_000552.5(VWF):c.605G>A (p.Arg202Gln)	VWF (R202Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068895	NM_000552.5(VWF):c.96G>A (p.Thr32=)	VWF	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3068894	NM_000552.5(VWF):c.3800T>C (p.Leu1267Ser)	VWF (L1267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068893	NM_000552.5(VWF):c.5682C>T (p.Thr1894=)	VWF	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3067484	NM_000552.5(VWF):c.1008C>T (p.Leu336=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063970	NM_000552.5(VWF):c.202C>T (p.Arg68Cys)	VWF (R68C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3061511	NM_000552.5(VWF):c.491A>G (p.Asn164Ser)	VWF (N164S)	Single nucleotide variant (missense variant)	VWF-related disorder	GUncertain significance
Select item 3061402	NM_000552.5(VWF):c.4019T>C (p.Leu1340Pro)	VWF (L1340P)	Single nucleotide variant (missense variant)	VWF-related disorder	GUncertain significance
Select item 3061172	NM_000552.5(VWF):c.2545T>A (p.Cys849Ser)	VWF (C849S)	Single nucleotide variant (missense variant)	VWF-related disorder	GUncertain significance
Select item 3058307	NM_000552.5(VWF):c.975C>T (p.Cys325=)	VWF	Single nucleotide variant (synonymous variant)	VWF-related disorder	GLikely benign
Select item 3057671	NM_000552.5(VWF):c.126C>G (p.Phe42Leu)	VWF (F42L)	Single nucleotide variant (missense variant)	VWF-related disorder	GUncertain significance
Select item 3054783	NM_000552.5(VWF):c.813C>T (p.Tyr271=)	VWF	Single nucleotide variant (synonymous variant)	VWF-related disorder	GLikely benign
Select item 3053159	NM_000552.5(VWF):c.3379C>T (p.Pro1127Ser)	VWF (P1127S)	Single nucleotide variant (missense variant)	VWF-related disorder	GUncertain significance
Select item 3047994	NM_000552.5(VWF):c.7081+4A>T	VWF	Single nucleotide variant (intron variant)	VWF-related disorder	GLikely benign
Select item 3045267	NM_000552.5(VWF):c.6087C>G (p.Val2029=)	VWF	Single nucleotide variant (synonymous variant)	VWF-related disorder	GLikely benign
Select item 3045052	NM_000552.5(VWF):c.4402_4404del (p.Thr1468del)	VWF (T1468del)	Deletion (inframe deletion)	VWF-related disorder	GUncertain significance
Select item 3042514	NM_000552.5(VWF):c.6353G>A (p.Arg2118Gln)	VWF (R2118Q)	Single nucleotide variant (missense variant)	VWF-related disorder	GUncertain significance
Select item 3040892	NM_000552.5(VWF):c.2703C>T (p.Asn901=)	VWF	Single nucleotide variant (synonymous variant)	VWF-related disorder	GLikely benign
Select item 3040652	NM_000552.5(VWF):c.2814C>T (p.Asp938=)	VWF	Single nucleotide variant (synonymous variant)	VWF-related disorder	GLikely benign
Select item 3037701	NM_000552.5(VWF):c.7131G>C (p.Pro2377=)	VWF	Single nucleotide variant (synonymous variant)	VWF-related disorder	GLikely benign
Select item 3035748	NM_000552.5(VWF):c.257T>A (p.Val86Glu)	VWF (V86E)	Single nucleotide variant (missense variant)	VWF-related disorder	GLikely pathogenic
Select item 3035100	NM_000552.5(VWF):c.6243G>A (p.Thr2081=)	VWF	Single nucleotide variant (synonymous variant)	VWF-related disorder	GLikely benign
Select item 3035020	NM_000552.5(VWF):c.1551C>T (p.Ala517=)	VWF	Single nucleotide variant (synonymous variant)	VWF-related disorder	GLikely benign
Select item 3032782	NM_000552.5(VWF):c.1860G>A (p.Glu620=)	VWF	Single nucleotide variant (synonymous variant)	VWF-related disorder	GLikely benign
Select item 3032014	NM_000552.5(VWF):c.2438dup (p.Met814fs)	VWF (M814fs)	Duplication (frameshift variant)	VWF-related disorder	GPathogenic
Select item 2921234	NM_000552.5(VWF):c.1048T>C (p.Cys350Arg)	VWF (C350R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2921183	NM_000552.5(VWF):c.7987-13T>C	VWF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2921173	NM_000552.5(VWF):c.1231C>T (p.Gln411Ter)	VWF (Q411*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2921132	NM_000552.5(VWF):c.2646dup (p.Tyr883fs)	VWF (Y883fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2921123	NM_000552.5(VWF):c.1083C>T (p.Thr361=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2921117	NM_000552.5(VWF):c.115G>A (p.Gly39Arg)	VWF (G39R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2921069	NM_000552.5(VWF):c.4037A>G (p.Gln1346Arg)	VWF (Q1346R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2921037	NM_000552.5(VWF):c.512A>T (p.Asp171Val)	VWF (D171V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2921027	NM_000552.5(VWF):c.1755G>A (p.Ala585=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2921021	NM_000552.5(VWF):c.1179dup (p.Ser394fs)	VWF (S394fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2920929	NM_000552.5(VWF):c.4413dup (p.Asp1472fs)	VWF (D1472fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2920919	NM_000552.5(VWF):c.3231del (p.Glu1078fs)	VWF (E1078fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2920802	NM_000552.5(VWF):c.3103A>G (p.Arg1035Gly)	VWF (R1035G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692182	NM_000552.5(VWF):c.5312-2_5312-1del	VWF	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2692181	NM_000552.5(VWF):c.6334C>T (p.Gln2112Ter)	VWF (Q2112*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic

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