C1264041[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 256702	NM_000552.5(VWF):c.8113G>A (p.Gly2705Arg)	VWF (G2705R)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 235639	NM_000552.5(VWF):c.7997C>T (p.Thr2666Met)	VWF (T2666M)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +4 more	GBenign/Likely benign
Select item 256699	NM_000552.5(VWF):c.7771-13C>T	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 1 +5 more	GBenign/Likely benign
Select item 256698	NM_000552.5(VWF):c.7682T>A (p.Phe2561Tyr)	VWF (F2561Y)	Single nucleotide variant (missense variant)	von Willebrand disease type 3 +5 more	GBenign/Likely benign
Select item 256697	NM_000552.5(VWF):c.7288-19C>T	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 1 +4 more	GBenign
Select item 256696	NM_000552.5(VWF):c.7239T>C (p.Thr2413=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 1 +5 more	GBenign/Likely benign
Select item 256695	NM_000552.5(VWF):c.7082-7C>T	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 3 +5 more	GBenign
Select item 256694	NM_000552.5(VWF):c.6846A>G (p.Thr2282=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 1 +5 more	GBenign/Likely benign
Select item 256693	NM_000552.5(VWF):c.6799-14C>T	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 3 +5 more	GBenign
Select item 256692	NM_000552.5(VWF):c.6798+14C>T	VWF	Single nucleotide variant (intron variant)	Hereditary von Willebrand disease +5 more	GBenign/Likely benign
Select item 100443	NM_000552.5(VWF):c.6554G>A (p.Arg2185Gln)	VWF (R2185Q)	Single nucleotide variant (missense variant)	von Willebrand disease type 3 +5 more	GBenign/Likely benign
Select item 256690	NM_000552.5(VWF):c.6345T>A (p.Thr2115=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 1 +5 more	GBenign/Likely benign
Select item 100436	NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser)	VWF (P2063S)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 256688	NM_000552.5(VWF):c.5844C>T (p.Cys1948=)	VWF	Single nucleotide variant (synonymous variant)	Hereditary von Willebrand disease +5 more	GBenign/Likely benign
Select item 256687	NM_000552.5(VWF):c.5667C>T (p.Pro1889=)	VWF	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 196663	NM_000552.5(VWF):c.5313G>T (p.Gly1771=)	VWF	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 439342	NM_000552.5(VWF):c.4824C>T (p.Thr1608=)	VWF	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 256682	NM_000552.5(VWF):c.4693G>T (p.Val1565Leu)	VWF (V1565L)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +5 more	GBenign/Likely benign
Select item 256681	NM_000552.5(VWF):c.4665A>C (p.Ala1555=)	VWF	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 256680	NM_000552.5(VWF):c.4641T>C (p.Thr1547=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 1 +5 more	GBenign/Likely benign
Select item 440407	NM_000552.5(VWF):c.4443G>T (p.Gly1481=)	VWF	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 256679	NM_000552.5(VWF):c.4414G>C (p.Asp1472His)	VWF (D1472H)	Single nucleotide variant (missense variant)	von Willebrand disease type 3 +6 more	GBenign/Likely benign
Select item 310062	NM_000552.5(VWF):c.4304A>G (p.Asn1435Ser)	VWF (N1435S)	Single nucleotide variant (missense variant)	von Willebrand disease type 3 +4 more	GBenign/Likely benign
Select item 256678	NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala)	VWF (T1381A)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 310063	NM_000552.5(VWF):c.4138A>G (p.Ile1380Val)	VWF (I1380V)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +4 more	GBenign/Likely benign
Select item 256675	NM_000552.5(VWF):c.3795G>A (p.Pro1265=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 3 +5 more	GBenign/Likely benign
Select item 256674	NM_000552.5(VWF):c.3789G>A (p.Ser1263=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 256673	NM_000552.5(VWF):c.3579T>C (p.Pro1193=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 2 +5 more	GBenign/Likely benign
Select item 256671	NM_000552.5(VWF):c.3539-33G>A	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 1 +4 more	GBenign
Select item 256670	NM_000552.5(VWF):c.3486A>G (p.Pro1162=)	VWF	Single nucleotide variant (synonymous variant)	Hereditary von Willebrand disease +5 more	GBenign/Likely benign
Select item 256668	NM_000552.5(VWF):c.3426T>C (p.Cys1142=)	VWF	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 256667	NM_000552.5(VWF):c.3414C>T (p.Asn1138=)	VWF	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 256665	NM_000552.5(VWF):c.3379+13G>A	VWF	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 256666	NM_000552.5(VWF):c.3379+7A>C	VWF	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 256664	NM_000552.5(VWF):c.3258C>T (p.Tyr1086=)	VWF	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 256663	NM_000552.5(VWF):c.3240T>C (p.Tyr1080=)	VWF	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 256662	NM_000552.5(VWF):c.3222+31C>T	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 1 +4 more	GBenign
Select item 619932	NM_000552.5(VWF):c.2900G>A (p.Gly967Asp)	VWF (G967D)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 195657	NM_000552.5(VWF):c.2880G>A (p.Arg960=)	VWF	Single nucleotide variant (synonymous variant)	Hereditary von Willebrand disease +5 more	GBenign/Likely benign
Select item 100240	NM_000552.5(VWF):c.2771G>A (p.Arg924Gln)	VWF (R924Q)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 256661	NM_000552.5(VWF):c.2546+25C>T	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 1 +4 more	GBenign
Select item 100224	NM_000552.5(VWF):c.2451T>A (p.His817Gln)	VWF (H817Q)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +5 more	GBenign/Likely benign
Select item 256660	NM_000552.5(VWF):c.2385T>C (p.Tyr795=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 3 +5 more	GBenign/Likely benign
Select item 256659	NM_000552.5(VWF):c.2365A>G (p.Thr789Ala)	VWF (T789A)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 256658	NM_000552.5(VWF):c.2282-42C>A	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 1 +4 more	GBenign
Select item 100206	NM_000552.5(VWF):c.2220G>A (p.Met740Ile)	VWF (M740I)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +5 more	GBenign/Likely benign
Select item 256657	NM_000552.5(VWF):c.1946-17_1946-15dup	VWF	Duplication (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 310080	NM_000552.5(VWF):c.1794C>T (p.Ala598=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 1 +4 more	GBenign/Likely benign
Select item 256656	NM_000552.5(VWF):c.1626G>A (p.Ala542=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 3 +5 more	GBenign/Likely benign
Select item 256655	NM_000552.5(VWF):c.1548T>C (p.Tyr516=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 2 +5 more	GBenign/Likely benign
Select item 256654	NM_000552.5(VWF):c.1451A>G (p.His484Arg)	VWF (H484R)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 256653	NM_000552.5(VWF):c.1433-10T>C	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 1 +5 more	GBenign/Likely benign
Select item 256652	NM_000552.5(VWF):c.1411G>A (p.Val471Ile)	VWF (V471I)	Single nucleotide variant (missense variant)	von Willebrand disease type 3 +5 more	GBenign/Likely benign
Select item 194003	NM_000552.5(VWF):c.1329C>T (p.Ser443=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 2 +4 more	GBenign/Likely benign
Select item 256651	NM_000552.5(VWF):c.1182A>C (p.Ser394=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 2 +5 more	GBenign/Likely benign
Select item 256650	NM_000552.5(VWF):c.1173A>T (p.Thr391=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 3 +5 more	GBenign/Likely benign
Select item 256705	NM_000552.5(VWF):c.998-27C>T	VWF	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 198745	NM_000552.5(VWF):c.954T>A (p.Asn318Lys)	VWF (N318K)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 256691	NM_000552.5(VWF):c.657+11A>C	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 1 +5 more	GBenign
Select item 256676	NM_000552.5(VWF):c.390C>T (p.Ser130=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 1 +5 more	GBenign/Likely benign

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Items: 60