ClinVar for Gene (Select 7450) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373524	NM_000552.5(VWF):c.6713C>T (p.Pro2238Leu)	VWF (P2238L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373203	NM_000552.5(VWF):c.3439A>G (p.Asn1147Asp)	VWF (N1147D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371083	NM_000552.5(VWF):c.8146T>C (p.Cys2716Arg)	VWF (C2716R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370676	NM_000552.5(VWF):c.7870T>C (p.Cys2624Arg)	VWF (C2624R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370025	NM_000552.5(VWF):c.1491C>A (p.Asp497Glu)	VWF (D497E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368193	NM_000552.5(VWF):c.1547A>T (p.Tyr516Phe)	VWF (Y516F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367148	NM_000552.5(VWF):c.5223T>G (p.Ile1741Met)	VWF (I1741M)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GUncertain significance
Select item 3366555	NM_000552.5(VWF):c.1078G>A (p.Gly360Ser)	VWF (G360S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366451	NM_000552.5(VWF):c.4205A>C (p.Gln1402Pro)	VWF (Q1402P)	Single nucleotide variant (missense variant)	von Willebrand disorder	GLikely pathogenic
Select item 3366427	NM_000552.5(VWF):c.5776T>G (p.Ser1926Ala)	VWF (S1926A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366294	NM_000552.5(VWF):c.6211C>T (p.Gln2071Ter)	VWF (Q2071*)	Single nucleotide variant (nonsense)	von Willebrand disease type 1	GPathogenic
Select item 3365925	NM_000552.5(VWF):c.7937C>G (p.Pro2646Arg)	VWF (P2646R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364338	NM_000552.5(VWF):c.6433C>G (p.Pro2145Ala)	VWF (P2145A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362142	NM_000552.5(VWF):c.4837T>G (p.Ser1613Ala)	VWF (S1613A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361783	NM_000552.5(VWF):c.1849G>C (p.Asp617His)	VWF (D617H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361541	NM_000552.5(VWF):c.1097A>G (p.Asp366Gly)	VWF (D366G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359550	NM_000552.5(VWF):c.6052A>G (p.Ser2018Gly)	VWF (S2018G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358728	NM_000552.5(VWF):c.3391G>A (p.Glu1131Lys)	VWF (E1131K)	Single nucleotide variant (missense variant)	VWF-related disorder	GUncertain significance
Select item 3352116	NM_000552.5(VWF):c.7216C>G (p.Pro2406Ala)	VWF (P2406A)	Single nucleotide variant (missense variant)	VWF-related disorder	GUncertain significance
Select item 3350428	NM_000552.5(VWF):c.2626C>T (p.Leu876Phe)	VWF (L876F)	Single nucleotide variant (missense variant)	VWF-related disorder	GUncertain significance
Select item 3348074	NM_000552.5(VWF):c.6813G>C (p.Trp2271Cys)	VWF (W2271C)	Single nucleotide variant (missense variant)	VWF-related disorder	GUncertain significance
Select item 3347229	NM_000552.5(VWF):c.6689A>G (p.His2230Arg)	VWF (H2230R)	Single nucleotide variant (missense variant)	VWF-related disorder	GUncertain significance
Select item 3344208	NM_000552.5(VWF):c.2686G>T (p.Asp896Tyr)	VWF (D896Y)	Single nucleotide variant (missense variant)	VWF-related disorder	GUncertain significance
Select item 3342579	NM_000552.5(VWF):c.4414G>T (p.Asp1472Tyr)	VWF (D1472Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341396	NM_000552.5(VWF):c.1433G>A (p.Gly478Asp)	VWF (G478D)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GUncertain significance
Select item 3339877	NM_000552.5(VWF):c.251T>C (p.Leu84Pro)	VWF (L84P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339629	NM_000552.5(VWF):c.7082-17C>T	VWF	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3339498	NM_000552.5(VWF):c.3118G>T (p.Asp1040Tyr)	VWF (D1040Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339480	NM_000552.5(VWF):c.780dup (p.Leu261fs)	VWF (L261fs)	Duplication (frameshift variant)	von Willebrand disorder	GLikely pathogenic
Select item 3339031	NM_000552.5(VWF):c.2440A>C (p.Met814Leu)	VWF (M814L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338903	NM_000552.5(VWF):c.6598+18C>T	VWF	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3338883	NM_000552.5(VWF):c.3613C>A (p.Arg1205Ser)	VWF (R1205S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3337739	NM_000552.5(VWF):c.3125C>A (p.Ser1042Tyr)	VWF (S1042Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336976	NM_000552.5(VWF):c.4087dup (p.Tyr1363fs)	VWF (Y1363fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3336819	NM_000552.5(VWF):c.846G>A (p.Leu282=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3336495	NM_000552.5(VWF):c.2716C>T (p.Arg906Trp)	VWF (R906W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336490	NM_000552.5(VWF):c.6772A>G (p.Ile2258Val)	VWF (I2258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336469	NM_000552.5(VWF):c.4074C>T (p.Ser1358=)	VWF	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3336466	NM_000552.5(VWF):c.5370G>A (p.Pro1790=)	VWF	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3336437	NM_000552.5(VWF):c.1975C>T (p.Leu659=)	VWF	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3336432	NM_000552.5(VWF):c.7288-1G>A	VWF	Single nucleotide variant (splice acceptor variant)	von Willebrand disorder	GLikely pathogenic
Select item 3336429	NM_000552.5(VWF):c.2442+13G>A	VWF	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3336257	NM_000552.5(VWF):c.4555_4557del (p.Glu1519del)	VWF (E1519del)	Deletion (inframe_deletion)	not specified	GUncertain significance
Select item 3336255	NM_000552.5(VWF):c.818G>A (p.Arg273Gln)	VWF (R273Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336113	NM_000552.5(VWF):c.1293+18G>A	VWF	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3336090	NM_000552.5(VWF):c.6902-15G>A	VWF	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3332534	NM_000552.5(VWF):c.5140G>A (p.Ala1714Thr)	VWF (A1714T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332533	NM_000552.5(VWF):c.6640C>T (p.His2214Tyr)	VWF (H2214Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332532	NM_000552.5(VWF):c.4799C>T (p.Ala1600Val)	VWF (A1600V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332531	NM_000552.5(VWF):c.7678G>A (p.Gly2560Ser)	VWF (G2560S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332529	NM_000552.5(VWF):c.5402C>T (p.Thr1801Met)	VWF (T1801M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3332528	NM_000552.5(VWF):c.7884C>G (p.Pro2628=)	VWF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3332527	NM_000552.5(VWF):c.3539G>T (p.Gly1180Val)	VWF (G1180V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332526	NM_000552.5(VWF):c.1147G>T (p.Glu383Ter)	VWF (E383*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3332525	NM_000552.5(VWF):c.6365C>T (p.Thr2122Met)	VWF (T2122M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332524	NM_000552.5(VWF):c.94A>G (p.Thr32Ala)	VWF (T32A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256368	NM_000552.5(VWF):c.303C>G (p.Thr101=)	VWF	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 3256367	NM_000552.5(VWF):c.3380-11T>A	VWF	Single nucleotide variant (intron variant)	not specified	GUncertain significance
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)	Inborn genetic diseases +1 more	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

<< First< Prev

Page of 10