"GeneDx"[submitter] AND "VWF"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 437264	NM_000552.5(VWF):c.8378T>C (p.Val2793Ala)	VWF (V2793A)	Single nucleotide variant (missense variant)	VWF-related disorder +2 more	GUncertain significance
Select item 310031	NM_000552.5(VWF):c.8366C>G (p.Thr2789Ser)	VWF (T2789S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1200719	NM_000552.5(VWF):c.8335A>G (p.Thr2779Ala)	VWF (T2779A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2501503	NM_000552.5(VWF):c.8326C>T (p.Pro2776Ser)	VWF (P2776S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803332	NM_000552.5(VWF):c.8210G>A (p.Gly2737Glu)	VWF (G2737E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1065225	NM_000552.5(VWF):c.8155+6T>C	VWF	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
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 806784	NM_000552.5(VWF):c.8084C>G (p.Pro2695Arg)	VWF (P2695R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 372760	NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro)	VWF (R2663P)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +4 more	GConflicting classifications of pathogenicity
Select item 100487	NM_000552.5(VWF):c.7940C>T (p.Thr2647Met)	VWF (T2647M)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +4 more	GConflicting classifications of pathogenicity
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 1065222	NM_000552.5(VWF):c.7887+2T>A	VWF	Single nucleotide variant (splice donor variant)	Hereditary von Willebrand disease +2 more	GConflicting classifications of pathogenicity
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 1222362	NM_000552.5(VWF):c.7771-173T>C	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1678781	NM_000552.5(VWF):c.7730-177G>T	VWF	Single nucleotide variant (intron variant)	not provided	GLikely 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 299	NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter)	VWF (R2535*)	Single nucleotide variant (nonsense)	von Willebrand disease type 1 +1 more	GPathogenic
Select item 1712076	NM_000552.5(VWF):c.7592A>G (p.Asn2531Ser)	VWF (N2531S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100476	NM_000552.5(VWF):c.7552G>A (p.Gly2518Ser)	VWF (G2518S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1258517	NM_000552.5(VWF):c.7549-59A>C	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286641	NM_000552.5(VWF):c.7548+231A>G	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277166	NM_000552.5(VWF):c.7548+188C>G	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269119	NM_000552.5(VWF):c.7548+170C>T	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 631687	NM_000552.5(VWF):c.7483del (p.Leu2495fs)	VWF (L2495fs)	Deletion (frameshift variant)	von Willebrand disorder +2 more	GConflicting classifications of pathogenicity
Select item 1258230	NM_000552.5(VWF):c.7437+86dup	VWF	Duplication (intron variant)	not provided	GBenign
Select item 100467	NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys)	VWF (R2464C)	Single nucleotide variant (missense variant)	von Willebrand disorder +3 more	GPathogenic/Likely pathogenic
Select item 1304974	NM_000552.5(VWF):c.7361C>A (p.Thr2454Asn)	VWF (T2454N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1242296	NM_000552.5(VWF):c.7288-21C>T	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226298	NM_000552.5(VWF):c.7288-87T>C	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181459	NM_000552.5(VWF):c.7287+127A>G	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258160	NM_000552.5(VWF):c.7287+60C>T	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191998	NM_000552.5(VWF):c.7174T>C (p.Tyr2392His)	VWF (Y2392H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302737	NM_000552.5(VWF):c.7150C>T (p.Arg2384Trp)	VWF (R2384W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2502045	NM_000552.5(VWF):c.7106G>C (p.Arg2369Thr)	VWF (R2369T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 310043	NM_000552.5(VWF):c.7082-13G>C	VWF	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1281607	NM_000552.5(VWF):c.7081+298C>A	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267102	NM_000552.5(VWF):c.7081+281G>A	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 993253	NM_000552.5(VWF):c.7059G>C (p.Glu2353Asp)	VWF (E2353D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 619754	NM_000552.5(VWF):c.7025G>A (p.Arg2342His)	VWF (R2342H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1277543	NM_000552.5(VWF):c.6977-142C>T	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229171	NM_000552.5(VWF):c.6977-225TATC[3]	VWF	Microsatellite (intron variant)	not provided	GBenign
Select item 1283479	NM_000552.5(VWF):c.6976+259A>G	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249321	NM_000552.5(VWF):c.6976+146G>A	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244359	NM_000552.5(VWF):c.6976+129C>T	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245914	NM_000552.5(VWF):c.6976+59C>T	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 100451	NM_000552.5(VWF):c.6911G>A (p.Cys2304Tyr)	VWF (C2304Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1182198	NM_000552.5(VWF):c.6902-105G>A	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277760	NM_000552.5(VWF):c.6902-210G>C	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 100450	NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp)	VWF (R2287W)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 1246129	NM_000552.5(VWF):c.6799-106G>C	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221649	NM_000552.5(VWF):c.6798+189G>A	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
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 2501906	NM_000552.5(VWF):c.6703T>G (p.Cys2235Gly)	VWF (C2235G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 420610	NM_000552.5(VWF):c.6599-5dup	VWF	Duplication (intron variant)	not specified	GLikely benign
Select item 1296831	NM_000552.5(VWF):c.6598+264C>T	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234667	NM_000552.5(VWF):c.6598+213C>T	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288037	NM_000552.5(VWF):c.6598+200A>G	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226347	NM_000552.5(VWF):c.6598+198A>G	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250723	NM_000552.5(VWF):c.6598+126G>A	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264674	NM_000552.5(VWF):c.6598+121C>T	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1710580	NM_000552.5(VWF):c.6533C>T (p.Ala2178Val)	VWF (A2178V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 627112	NM_000552.5(VWF):c.6479A>G (p.Tyr2160Cys)	VWF (Y2160C)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +2 more	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 1303108	NM_000552.5(VWF):c.6197A>G (p.Asn2066Ser)	VWF (N2066S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1296828	NM_000552.5(VWF):c.6064-225G>A	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182188	NM_000552.5(VWF):c.6063+300C>T	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229764	NM_000552.5(VWF):c.6063+25G>A	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1308070	NM_000552.5(VWF):c.6016G>A (p.Glu2006Lys)	VWF (E2006K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2504790	NM_000552.5(VWF):c.5942dup (p.Gln1982fs)	VWF (Q1982fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1225172	NM_000552.5(VWF):c.5843-111A>G	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1306044	NM_000552.5(VWF):c.5673C>G (p.Asp1891Glu)	VWF (D1891E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1247093	NM_000552.5(VWF):c.5665-118G>A	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 452107	NM_000552.5(VWF):c.5522G>T (p.Gly1841Val)	VWF (G1841V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504800	NM_000552.5(VWF):c.5518G>T (p.Ala1840Ser)	VWF (A1840S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581864	NM_000552.5(VWF):c.5509C>T (p.Arg1837Trp)	VWF (R1837W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682120	NM_000552.5(VWF):c.5469_5474del (p.Pro1824_Ile1825del)	VWF	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2412828	NM_000552.5(VWF):c.5474T>C (p.Ile1825Thr)	VWF (I1825T)	Single nucleotide variant (missense variant)	not provided	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 2429680	NM_000552.5(VWF):c.5317G>A (p.Ala1773Thr)	VWF (A1773T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100422	NM_000552.5(VWF):c.5278G>A (p.Val1760Ile)	VWF (V1760I)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 100420	NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr)	VWF (S1731T)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +2 more	GConflicting classifications of pathogenicity
Select item 1313243	NM_000552.5(VWF):c.5186A>G (p.Gln1729Arg)	VWF (Q1729R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100418	NM_000552.5(VWF):c.5170+10C>T	VWF	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1262910	NM_000552.5(VWF):c.5053+303_5053+304del	VWF	Deletion (intron variant)	not provided	GBenign
Select item 1239290	NM_000552.5(VWF):c.5053+304del	VWF	Deletion (intron variant)	not provided	GBenign
Select item 1274332	NM_000552.5(VWF):c.5053+130A>C	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 100414	NM_000552.5(VWF):c.5014G>A (p.Gly1672Arg)	VWF (G1672R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 297	NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter)	VWF (R1659*)	Single nucleotide variant (nonsense)	von Willebrand disease type 1 +2 more	GPathogenic
Select item 1712651	NM_000552.5(VWF):c.4894C>T (p.Pro1632Ser)	VWF (P1632S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504480	NM_000552.5(VWF):c.4826G>A (p.Gly1609Glu)	VWF (G1609E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100395	NM_000552.5(VWF):c.4825G>A (p.Gly1609Arg)	VWF (G1609R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 310	NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)	VWF (Y1584C)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +7 more	GConflicting classifications of pathogenicity; risk factor
Select item 811702	NM_000552.5(VWF):c.4690C>T (p.Arg1564Trp)	VWF (R1564W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 100369	NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu)	VWF (S1506L)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +3 more	GPathogenic/Likely pathogenic
Select item 3342579	NM_000552.5(VWF):c.4414G>T (p.Asp1472Tyr)	VWF (D1472Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1334625	NM_000552.5(VWF):c.4315G>A (p.Val1439Met)	VWF (V1439M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 100346	NM_000552.5(VWF):c.4273A>T (p.Ile1425Phe)	VWF (I1425F)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely pathogenic

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