"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 100509	NM_000552.5(VWF):c.8416T>C (p.Cys2806Arg)	VWF (C2806R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 437264	NM_000552.5(VWF):c.8378T>C (p.Val2793Ala)	VWF (V2793A)	Single nucleotide variant (missense variant)	VWF-related condition +2 more	GUncertain significance
Select item 1330075	NM_000552.5(VWF):c.8345T>C (p.Met2782Thr)	VWF (M2782T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993044	NM_000552.5(VWF):c.8333G>A (p.Arg2778Gln)	VWF (R2778Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 619762	NM_000552.5(VWF):c.8332C>T (p.Arg2778Trp)	VWF (R2778W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 619761	NM_000552.5(VWF):c.8325T>C (p.Ser2775=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2682133	NM_000552.5(VWF):c.8295C>T (p.Asn2765=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 619760	NM_000552.5(VWF):c.8273C>T (p.Ala2758Val)	VWF (A2758V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2682132	NM_000552.5(VWF):c.8156-6C>T	VWF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 619759	NM_000552.5(VWF):c.8155T>C (p.Cys2719Arg)	VWF (C2719R)	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 specified +2 more	GUncertain significance
Select item 235639	NM_000552.5(VWF):c.7997C>T (p.Thr2666Met)	VWF (T2666M)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +5 more	GBenign/Likely benign
Select item 372760	NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro)	VWF (R2663P)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2593200	NM_000552.5(VWF):c.7810C>T (p.Arg2604Cys)	VWF (R2604C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2682131	NM_000552.5(VWF):c.7774G>A (p.Gly2592Arg)	VWF (G2592R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 619757	NM_000552.5(VWF):c.7771-10C>T	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1330045	NM_000552.5(VWF):c.7724G>A (p.Arg2575His)	VWF (R2575H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2682130	NM_000552.5(VWF):c.7707G>A (p.Ala2569=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 310040	NM_000552.5(VWF):c.7698G>A (p.Lys2566=)	VWF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 801317	NM_000552.5(VWF):c.7625T>A (p.Ile2542Lys)	VWF (I2542K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581180	NM_000552.5(VWF):c.7624A>G (p.Ile2542Val)	VWF (I2542V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 801316	NM_000552.5(VWF):c.7619T>C (p.Val2540Ala)	VWF (V2540A)	Single nucleotide variant (missense variant)	von Willebrand disease type 2 +3 more	GUncertain significance
Select item 2682129	NM_000552.5(VWF):c.7616A>T (p.Glu2539Val)	VWF (E2539V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682128	NM_000552.5(VWF):c.7604G>A (p.Arg2535Gln)	VWF (R2535Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 299	NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter)	VWF (R2535*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 619756	NM_000552.5(VWF):c.7553G>C (p.Gly2518Ala)	VWF (G2518A)	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 631687	NM_000552.5(VWF):c.7483del (p.Leu2495fs)	VWF (L2495fs)	Deletion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 619755	NM_000552.5(VWF):c.7464C>T (p.Gly2488=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely pathogenic
Select item 993257	NM_000552.5(VWF):c.7457A>G (p.His2486Arg)	VWF (H2486R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330097	NM_000552.5(VWF):c.7433G>A (p.Arg2478Gln)	VWF (R2478Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2682127	NM_000552.5(VWF):c.7392C>T (p.Arg2464=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 100467	NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys)	VWF (R2464C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 310041	NM_000552.5(VWF):c.7362C>T (p.Thr2454=)	VWF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2602718	NM_000552.5(VWF):c.7301G>A (p.Arg2434Gln)	VWF (R2434Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 801315	NM_000552.5(VWF):c.7288-9T>G	VWF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 993256	NM_000552.5(VWF):c.7220T>C (p.Leu2407Pro)	VWF (L2407P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993255	NM_000552.5(VWF):c.7184C>T (p.Ala2395Val)	VWF (A2395V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682126	NM_000552.5(VWF):c.7159C>T (p.Gln2387Ter)	VWF (Q2387*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 801314	NM_000552.5(VWF):c.7151G>A (p.Arg2384Gln)	VWF (R2384Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993254	NM_000552.5(VWF):c.7086C>G (p.Cys2362Trp)	VWF (C2362W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682125	NM_000552.5(VWF):c.7083C>G (p.Ala2361=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1330037	NM_000552.5(VWF):c.7081+7C>G	VWF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2682124	NM_000552.5(VWF):c.7081+1G>A	VWF	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1330006	NM_000552.5(VWF):c.7081G>A (p.Ala2361Thr)	VWF (A2361T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 993253	NM_000552.5(VWF):c.7059G>C (p.Glu2353Asp)	VWF (E2353D)	Single nucleotide variant (missense variant)	VWF-related condition +2 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 1330096	NM_000552.5(VWF):c.6965A>T (p.Glu2322Val)	VWF (E2322V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 100453	NM_000552.5(VWF):c.6938G>A (p.Arg2313His)	VWF (R2313H)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +1 more	GUncertain significance
Select item 993252	NM_000552.5(VWF):c.6937C>T (p.Arg2313Cys)	VWF (R2313C)	Single nucleotide variant (missense variant)	VWF-related condition +2 more	GUncertain significance
Select item 310048	NM_000552.5(VWF):c.6902-5T>A	VWF	Single nucleotide variant (intron variant)	Hereditary von Willebrand disease +1 more	GBenign/Likely benign
Select item 993251	NM_000552.5(VWF):c.6890C>T (p.Pro2297Leu)	VWF (P2297L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 100450	NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp)	VWF (R2287W)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +4 more	GUncertain significance
Select item 100443	NM_000552.5(VWF):c.6554G>A (p.Arg2185Gln)	VWF (R2185Q)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +5 more	GBenign/Likely benign
Select item 627354	NM_000552.5(VWF):c.6553C>T (p.Arg2185Trp)	VWF (R2185W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 619942	NM_000552.5(VWF):c.6532G>T (p.Ala2178Ser)	VWF (A2178S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 806790	NM_000552.5(VWF):c.6377T>C (p.Ile2126Thr)	VWF (I2126T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 256690	NM_000552.5(VWF):c.6345T>A (p.Thr2115=)	VWF	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 801313	NM_000552.5(VWF):c.6303C>A (p.Gly2101=)	VWF	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 619941	NM_000552.5(VWF):c.6256+2dup	VWF	Duplication (splice donor variant)	not provided +1 more	GUncertain significance
Select item 2682123	NM_000552.5(VWF):c.6248G>A (p.Gly2083Asp)	VWF (G2083D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100436	NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser)	VWF (P2063S)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 993250	NM_000552.5(VWF):c.6183C>G (p.Phe2061Leu)	VWF (F2061L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 256689	NM_000552.5(VWF):c.6099C>T (p.Tyr2033=)	VWF	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 993249	NM_000552.5(VWF):c.6069G>A (p.Thr2023=)	VWF	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 801311	NM_000552.5(VWF):c.6015C>T (p.Ile2005=)	VWF	Single nucleotide variant (synonymous variant)	VWF-related condition +1 more	GLikely benign
Select item 619939	NM_000552.5(VWF):c.5843-8C>G	VWF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2627359	NM_000552.5(VWF):c.5793G>A (p.Gln1931=)	VWF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2682122	NM_000552.5(VWF):c.5761C>T (p.Arg1921Trp)	VWF (R1921W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 801310	NM_000552.5(VWF):c.5667C>G (p.Pro1889=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 256687	NM_000552.5(VWF):c.5667C>T (p.Pro1889=)	VWF	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 801309	NM_000552.5(VWF):c.5665-9C>A	VWF	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 801308	NM_000552.5(VWF):c.5515T>C (p.Leu1839=)	VWF	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2682121	NM_000552.5(VWF):c.5483G>T (p.Gly1828Val)	VWF (G1828V)	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 1330038	NM_000552.5(VWF):c.5455+1G>A	VWF	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 993247	NM_000552.5(VWF):c.5442C>A (p.Ala1814=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2682119	NM_000552.5(VWF):c.5407G>A (p.Val1803Ile)	VWF (V1803I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196663	NM_000552.5(VWF):c.5313G>T (p.Gly1771=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 1 +4 more	GBenign/Likely benign
Select item 1330060	NM_000552.5(VWF):c.5287C>T (p.Arg1763Trp)	VWF (R1763W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 100422	NM_000552.5(VWF):c.5278G>A (p.Val1760Ile)	VWF (V1760I)	Single nucleotide variant (missense variant)	VWF-related condition +2 more	GUncertain significance
Select item 310061	NM_000552.5(VWF):c.5277C>T (p.Asp1759=)	VWF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 801307	NM_000552.5(VWF):c.5227G>A (p.Val1743Met)	VWF (V1743M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682118	NM_000552.5(VWF):c.5207del (p.Gly1736fs)	VWF (G1736fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 100420	NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr)	VWF (S1731T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 619937	NM_000552.5(VWF):c.5173C>T (p.Pro1725Ser)	VWF (P1725S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 993160	NM_000552.5(VWF):c.5171-9del	VWF	Deletion (intron variant)	not specified	GBenign
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 1065257	NM_000552.5(VWF):c.5085_5087del (p.Leu1696del)	VWF (L1696del)	Deletion (inframe_deletion)	not provided	GUncertain significance
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 1330064	NM_000552.5(VWF):c.5004G>A (p.Arg1668=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 297	NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter)	VWF (R1659*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2682117	NM_000552.5(VWF):c.4917G>A (p.Leu1639=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 619936	NM_000552.5(VWF):c.4906G>A (p.Val1636Met)	VWF (V1636M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 284	NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr)	VWF (I1628T)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 439343	NM_000552.5(VWF):c.4873G>C (p.Val1625Leu)	VWF (V1625L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 100396	NM_000552.5(VWF):c.4841A>G (p.Asp1614Gly)	VWF (D1614G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 619935	NM_000552.5(VWF):c.4840G>A (p.Asp1614Asn)	VWF (D1614N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 439342	NM_000552.5(VWF):c.4824C>T (p.Thr1608=)	VWF	Single nucleotide variant (synonymous variant)	von Willebrand disease type 2 +3 more	GBenign/Likely benign

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