VWF[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
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 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 155290	GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3	ADIPOR2, AKAP3 +223 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 153708	GRCh38/hg38 12p13.31(chr12:5686953-6111240)x1	ANO2, LOC107832854 +9 more	Copy number loss	See cases	GUncertain significance
Select item 2683177	NM_000552.5(VWF):c.8440T>G (p.Ter2814Gly)	VWF	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1684477	NM_000552.5(VWF):c.8430_8433dup (p.Ser2812fs)	VWF (S2812fs)	Duplication (frameshift variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 2628675	NM_000552.5(VWF):c.8419_8422dup (p.Pro2808fs)	VWF (P2808fs)	Duplication (frameshift variant)	VWF-related disorder	GPathogenic
Select item 2572116	NM_000552.5(VWF):c.8418C>G (p.Cys2806Trp)	VWF (C2806W)	Single nucleotide variant (missense variant)	Thrombocytopenia	GUncertain significance
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 100508	NM_000552.5(VWF):c.8412_8413insTCCCC (p.Lys2805fs)	VWF (K2805fs)	Microsatellite (frameshift variant)	not provided	Gnot provided
Select item 100507	NM_000552.5(VWF):c.8411G>A (p.Cys2804Tyr)	VWF (C2804Y)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 100506	NM_000552.5(VWF):c.8402C>A (p.Ala2801Asp)	VWF (A2801D)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 1098541	NM_000552.5(VWF):c.8401G>A (p.Ala2801Thr)	VWF (A2801T)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
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 2396469	NM_000552.5(VWF):c.8366C>A (p.Thr2789Asn)	VWF (T2789N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1330075	NM_000552.5(VWF):c.8345T>C (p.Met2782Thr)	VWF (M2782T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100505	NM_000552.5(VWF):c.8341C>T (p.Pro2781Ser)	VWF (P2781S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2465535	NM_000552.5(VWF):c.8336C>T (p.Thr2779Met)	VWF (T2779M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 100504	NM_000552.5(VWF):c.8327C>T (p.Pro2776Leu)	VWF (P2776L)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 619761	NM_000552.5(VWF):c.8325T>C (p.Ser2775=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1065227	NM_000552.5(VWF):c.8323T>C (p.Ser2775Pro)	VWF (S2775P)	Single nucleotide variant (missense variant)	von Willebrand disease type 3	GUncertain significance
Select item 100503	NM_000552.5(VWF):c.8318G>C (p.Cys2773Ser)	VWF (C2773S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 306	NM_000552.5(VWF):c.8317T>C (p.Cys2773Arg)	VWF (C2773R)	Single nucleotide variant (missense variant)	Von Willebrand disease type 2A	GPathogenic
Select item 100502	NM_000552.5(VWF):c.8316del (p.Cys2773fs)	VWF (C2773fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 100501	NM_000552.5(VWF):c.8312G>A (p.Cys2771Tyr)	VWF (C2771Y)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 100500	NM_000552.5(VWF):c.8311T>A (p.Cys2771Ser)	VWF (C2771S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 627399	NM_000552.5(VWF):c.8307C>A (p.Asp2769Glu)	VWF (D2769E)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GUncertain significance
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 1337680	NM_000552.5(VWF):c.8289C>T (p.Asp2763=)	VWF	Single nucleotide variant (synonymous variant)	not provided +1 more	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 627398	NM_000552.5(VWF):c.8276T>C (p.Met2759Thr)	VWF (M2759T)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +1 more	GUncertain significance
Select item 627397	NM_000552.5(VWF):c.8275A>G (p.Met2759Val)	VWF (M2759V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 100499	NM_000552.5(VWF):c.8262T>G (p.Cys2754Trp)	VWF (C2754W)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3233658	NM_000552.5(VWF):c.8254-5T>G	VWF	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 440406	NM_000552.5(VWF):c.8253+39C>T	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 440405	NM_000552.5(VWF):c.8253+32T>C	VWF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 100498	NM_000552.5(VWF):c.8244_8252del (p.His2748_Cys2750del)	VWF	Deletion (inframe_deletion)	von Willebrand disease type 3	GLikely pathogenic
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 100495	NM_000552.5(VWF):c.8216G>A (p.Cys2739Tyr)	VWF (C2739Y)	Single nucleotide variant (missense variant)	von Willebrand disease type 3	GLikely pathogenic
Select item 627394	NM_000552.5(VWF):c.8215T>C (p.Cys2739Arg)	VWF (C2739R)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease +1 more	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 1098542	NM_000552.5(VWF):c.8195A>G (p.Gln2732Arg)	VWF (Q2732R)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	GUncertain significance
Select item 100494	NM_000552.5(VWF):c.8187_8194del (p.Arg2730fs)	VWF (R2730fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 806783	NM_000552.5(VWF):c.8175C>T (p.Asn2725=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1065226	NM_000552.5(VWF):c.8171G>A (p.Cys2724Tyr)	VWF (C2724Y)	Single nucleotide variant (missense variant)	von Willebrand disease type 3	GUncertain significance
Select item 2692179	NM_000552.5(VWF):c.8165del (p.Pro2722fs)	VWF (P2722fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 100492	NM_000552.5(VWF):c.8164C>G (p.Pro2722Ala)	VWF (P2722A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 310032	NM_000552.5(VWF):c.8160G>A (p.Glu2720=)	VWF	Single nucleotide variant (synonymous variant)	not specified +1 more	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 256704	NM_000552.5(VWF):c.8155+50C>T	VWF	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 310033	NM_000552.5(VWF):c.8155+8C>T	VWF	Single nucleotide variant (intron variant)	Hereditary von Willebrand disease	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 1684478	NM_000552.5(VWF):c.8155+2_8155+3del	VWF	Microsatellite (splice donor variant)	Hereditary von Willebrand disease	GLikely pathogenic
Select item 1065224	NM_000552.5(VWF):c.8155+3G>A	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 3	GUncertain significance
Select item 100491	NM_000552.5(VWF):c.8155+3G>T	VWF	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 100490	NM_000552.5(VWF):c.8155+3G>C	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 3	GLikely pathogenic
Select item 1065223	NM_000552.5(VWF):c.8155+1G>T	VWF	Single nucleotide variant (splice donor variant)	von Willebrand disease type 3	GLikely pathogenic
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 2692180	NM_000552.5(VWF):c.8143T>A (p.Cys2715Ser)	VWF (C2715S)	Single nucleotide variant (missense variant)	not specified	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 1315530	NM_000552.5(VWF):c.8116-2del	VWF	Deletion (splice acceptor variant)	von Willebrand disease type 1	GPathogenic
Select item 256703	NM_000552.5(VWF):c.8116-20A>C	VWF	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 310034	NM_000552.5(VWF):c.8096A>G (p.His2699Arg)	VWF (H2699R)	Single nucleotide variant (missense variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 2642601	NM_000552.5(VWF):c.8094A>G (p.Glu2698=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2334440	NM_000552.5(VWF):c.8087T>C (p.Phe2696Ser)	VWF (F2696S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 806785	NM_000552.5(VWF):c.8079C>T (p.Cys2693=)	VWF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 100489	NM_000552.5(VWF):c.8078G>A (p.Cys2693Tyr)	VWF (C2693Y)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 1049712	NM_000552.5(VWF):c.8069_8070insA (p.Thr2691fs)	VWF (T2691fs)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 631686	NM_000552.5(VWF):c.8052C>A (p.Tyr2684Ter)	VWF (Y2684*)	Single nucleotide variant (nonsense)	Hereditary von Willebrand disease	GUncertain significance
Select item 2528443	NM_000552.5(VWF):c.8045G>A (p.Gly2682Glu)	VWF (G2682E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 501149	NM_000552.5(VWF):c.8036A>G (p.Asn2679Ser)	VWF (N2679S)	Single nucleotide variant (missense variant)	von Willebrand disease type 1 +4 more	GUncertain significance
Select item 1802814	NM_000552.5(VWF):c.8027G>T (p.Cys2676Phe)	VWF (C2676F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 100488	NM_000552.5(VWF):c.8012G>A (p.Cys2671Tyr)	VWF (C2671Y)	Single nucleotide variant (missense variant)	von Willebrand disease type 3	GLikely pathogenic
Select item 1703812	NM_000552.5(VWF):c.8008G>A (p.Gly2670Ser)	VWF (G2670S)	Single nucleotide variant (missense variant)	von Willebrand disease type 1	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 +4 more	GBenign/Likely benign
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 1695346	NM_000552.5(VWF):c.7987C>T (p.Arg2663Cys)	VWF (R2663C)	Single nucleotide variant (missense variant)	Von Willebrand disease type 2B +1 more	GPathogenic/Likely pathogenic
Select item 2921183	NM_000552.5(VWF):c.7987-13T>C	VWF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2438547	NM_000552.5(VWF):c.7970A>C (p.Gln2657Pro)	VWF (Q2657P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996357	NM_000552.5(VWF):c.7956_7959del (p.Leu2653fs)	VWF (L2653fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 310035	NM_000552.5(VWF):c.7947C>T (p.Cys2649=)	VWF	Single nucleotide variant (synonymous variant)	Hereditary von Willebrand disease	GUncertain significance
Select item 100487	NM_000552.5(VWF):c.7940C>T (p.Thr2647Met)	VWF (T2647M)	Single nucleotide variant (missense variant)	von Willebrand disease type 3 +4 more	GConflicting classifications of pathogenicity

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