ClinVar for MedGen (Select 266075) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584907	NM_000552.5(VWF):c.2442+5G>A	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 3	GUncertain significance
Select item 1803280	NM_000552.5(VWF):c.5314delG	VWF	Deletion (splice acceptor variant)	von Willebrand disease type 3	GPathogenic
Select item 1803122	NM_000552.5(VWF):c.6798+2T>A	VWF	Single nucleotide variant (splice donor variant)	von Willebrand disease type 3	GPathogenic
Select item 1705723	NM_000552.5(VWF):c.1839C>G (p.Cys613Trp)	VWF (C613W)	Single nucleotide variant (missense variant)	von Willebrand disease type 3	GUncertain significance
Select item 1705678	NM_000552.5(VWF):c.7563G>A (p.Trp2521Ter)	VWF (W2521*)	Single nucleotide variant (nonsense)	von Willebrand disease type 3	GPathogenic
Select item 1705502	NM_000552.5(VWF):c.6599-5_6610del	VWF	Deletion (splice acceptor variant)	von Willebrand disease type 3	GPathogenic
Select item 1695363	NM_000552.5(VWF):c.4752C>A (p.Tyr1584Ter)	VWF (Y1584*)	Single nucleotide variant (nonsense)	von Willebrand disease type 3	GPathogenic
Select item 1695362	NM_000552.5(VWF):c.4710C>A (p.Tyr1570Ter)	VWF (Y1570*)	Single nucleotide variant (nonsense)	von Willebrand disease type 3	GPathogenic
Select item 1695359	NM_000552.5(VWF):c.1543_1544insGGACAGCT (p.Val515fs)	VWF (V515fs)	Insertion (frameshift variant)	von Willebrand disease type 3	GPathogenic
Select item 1695349	NM_000552.5(VWF):c.1992del (p.Cys665fs)	VWF (C665fs)	Deletion (frameshift variant)	von Willebrand disease type 3	GPathogenic
Select item 1336650	NM_000552.5(VWF):c.2739A>C (p.Gly913=)	VWF	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
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 1172778	NM_000552.5(VWF):c.6963del (p.Glu2322fs)	VWF (E2322fs)	Deletion (frameshift variant)	von Willebrand disease type 3	GPathogenic
Select item 1065309	NM_000552.5(VWF):c.763_766del (p.Cys255fs)	VWF (C255fs)	Microsatellite (frameshift variant)	von Willebrand disease type 3	GPathogenic
Select item 1065308	NM_000552.5(VWF):c.7619T>A (p.Val2540Asp)	VWF (V2540D)	Single nucleotide variant (missense variant)	von Willebrand disease type 3	GUncertain significance
Select item 1065307	NM_000552.5(VWF):c.7618del (p.Val2540fs)	VWF (V2540fs)	Deletion (frameshift variant)	von Willebrand disease type 3	GPathogenic
Select item 1065306	NM_000552.5(VWF):c.7524_7525del (p.Asp2509fs)	VWF (D2509fs)	Deletion (frameshift variant)	von Willebrand disease type 1	GPathogenic
Select item 1065305	NM_000552.5(VWF):c.7514C>A (p.Ser2505Ter)	VWF (S2505*)	Single nucleotide variant (nonsense)	von Willebrand disease type 3	GPathogenic
Select item 1065304	NM_000552.5(VWF):c.7360_7376dup (p.Val2460fs)	VWF (V2460fs)	Duplication (frameshift variant)	von Willebrand disease type 3	GPathogenic
Select item 1065303	NM_000552.5(VWF):c.7287+1G>C	VWF	Single nucleotide variant (splice donor variant)	von Willebrand disease type 3	GUncertain significance
Select item 1065302	NM_000552.5(VWF):c.7182T>G (p.Cys2394Trp)	VWF (C2394W)	Single nucleotide variant (missense variant)	von Willebrand disease type 3	GUncertain significance
Select item 1065301	NM_000552.5(VWF):c.3406_3407del (p.Arg1136fs)	VWF (R1136fs)	Deletion (frameshift variant)	von Willebrand disease type 3	GUncertain significance
Select item 1065300	NM_000552.5(VWF):c.3379+2T>C	VWF	Single nucleotide variant (splice donor variant)	von Willebrand disease type 3	GUncertain significance
Select item 1065299	NM_000552.5(VWF):c.3360G>A (p.Trp1120Ter)	VWF (W1120*)	Single nucleotide variant (nonsense)	von Willebrand disease type 3	GPathogenic
Select item 1065298	NM_000552.5(VWF):c.3285_3307delinsTCC (p.Asp1096fs)	VWF (D1096fs)	Indel (frameshift variant)	von Willebrand disease type 3	GPathogenic
Select item 1065297	NM_000552.5(VWF):c.3222+2dup	VWF	Duplication (splice donor variant)	von Willebrand disease type 3	GUncertain significance
Select item 1065296	NM_000552.5(VWF):c.311_312del (p.Gln104fs)	VWF (Q104fs)	Deletion (frameshift variant)	von Willebrand disease type 3	GPathogenic
Select item 1065295	NM_000552.5(VWF):c.310C>T (p.Gln104Ter)	VWF (Q104*)	Single nucleotide variant (nonsense)	von Willebrand disease type 3	GPathogenic
Select item 1065294	NM_000552.5(VWF):c.2965dup (p.Gln989fs)	VWF (Q989fs)	Duplication (frameshift variant)	von Willebrand disease type 3	GPathogenic
Select item 1065293	NM_000552.5(VWF):c.2902A>T (p.Lys968Ter)	VWF (K968*)	Single nucleotide variant (nonsense)	von Willebrand disease type 3	GPathogenic
Select item 1065292	NM_000552.5(VWF):c.2753C>G (p.Ser918Ter)	VWF (S918*)	Single nucleotide variant (nonsense)	von Willebrand disease type 3	GPathogenic
Select item 1065291	NM_000552.5(VWF):c.6973T>A (p.Cys2325Ser)	VWF (C2325S)	Single nucleotide variant (missense variant)	von Willebrand disease type 3	GLikely pathogenic
Select item 1065290	NM_000552.5(VWF):c.6917del (p.Leu2306fs)	VWF (L2306fs)	Deletion (frameshift variant)	von Willebrand disease type 3	GPathogenic
Select item 1065289	NM_000552.5(VWF):c.6901+1G>T	VWF	Single nucleotide variant (splice donor variant)	von Willebrand disease type 3	GUncertain significance
Select item 1065288	NM_000552.5(VWF):c.6847T>C (p.Cys2283Arg)	VWF (C2283R)	Single nucleotide variant (missense variant)	von Willebrand disease type 3	GLikely pathogenic
Select item 1065287	NM_000552.5(VWF):c.6697G>A (p.Glu2233Lys)	VWF (E2233K)	Single nucleotide variant (missense variant)	von Willebrand disease type 3	GUncertain significance
Select item 1065286	NM_000552.5(VWF):c.6634T>C (p.Cys2212Arg)	VWF (C2212R)	Single nucleotide variant (missense variant)	von Willebrand disease type 3	GLikely pathogenic
Select item 1065285	NM_000552.5(VWF):c.6551G>C (p.Cys2184Ser)	VWF (C2184S)	Single nucleotide variant (missense variant)	von Willebrand disease type 3	GLikely pathogenic
Select item 1065284	NM_000552.5(VWF):c.646G>T (p.Glu216Ter)	VWF (E216*)	Single nucleotide variant (nonsense)	von Willebrand disease type 3	GPathogenic
Select item 1065283	NM_000552.5(VWF):c.6236C>G (p.Ser2079Ter)	VWF (S2079*)	Single nucleotide variant (nonsense)	von Willebrand disease type 3	GPathogenic
Select item 1065282	NM_000552.5(VWF):c.6227del (p.Thr2076fs)	VWF (T2076fs)	Deletion (frameshift variant)	von Willebrand disease type 3	GLikely pathogenic
Select item 1065281	NM_000552.5(VWF):c.6188del (p.Pro2063fs)	VWF (P2063fs)	Deletion (frameshift variant)	von Willebrand disease type 3	GPathogenic
Select item 1065280	NM_000552.5(VWF):c.2547-1G>C	VWF	Single nucleotide variant (splice acceptor variant)	von Willebrand disease type 3	GUncertain significance
Select item 1065279	NM_000552.5(VWF):c.2430C>A (p.Cys810Ter)	VWF (C810*)	Single nucleotide variant (nonsense)	von Willebrand disease type 3	GPathogenic
Select item 1065278	NM_000552.5(VWF):c.2430_2431delinsA (p.Cys810_Pro811delinsTer)	VWF	Indel (nonsense)	von Willebrand disease type 3	GPathogenic
Select item 1065277	NM_000552.5(VWF):c.2397_2400dup (p.Ser801fs)	VWF (S801fs)	Duplication (frameshift variant)	von Willebrand disease type 3	GPathogenic
Select item 1065276	NM_000552.5(VWF):c.2393_2396dup (p.Cys799Ter)	VWF (C799*)	Duplication (nonsense)	von Willebrand disease type 3	GPathogenic
Select item 1065275	NM_000552.5(VWF):c.2377C>T (p.Gln793Ter)	VWF (Q793*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1065274	NM_000552.5(VWF):c.2376C>G (p.Cys792Trp)	VWF (C792W)	Single nucleotide variant (missense variant)	von Willebrand disease type 3	GLikely pathogenic
Select item 1065273	NM_000552.5(VWF):c.2311A>G (p.Met771Val)	VWF (M771V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1065272	NM_000552.5(VWF):c.2310dup (p.Met771fs)	VWF (M771fs)	Duplication (frameshift variant)	von Willebrand disease type 3	GPathogenic
Select item 1065271	NM_000552.5(VWF):c.2310del (p.Met771fs)	VWF (M771fs)	Deletion (frameshift variant)	von Willebrand disease type 3	GPathogenic
Select item 1065270	NM_000552.5(VWF):c.229C>T (p.Gln77Ter)	VWF (Q77*)	Single nucleotide variant (nonsense)	von Willebrand disease type 3	GPathogenic
Select item 1065269	NM_000552.5(VWF):c.2282-2A>G	VWF	Single nucleotide variant (splice acceptor variant)	von Willebrand disease type 3	GUncertain significance
Select item 1065268	NM_000552.5(VWF):c.874+2T>C	VWF	Single nucleotide variant (splice donor variant)	von Willebrand disease type 3	GUncertain significance
Select item 1065267	NM_000552.5(VWF):c.5981_5982insT (p.Gly1996fs)	VWF (G1996fs)	Insertion (frameshift variant)	von Willebrand disease type 3	GPathogenic
Select item 1065266	NM_000552.5(VWF):c.592C>T (p.Gln198Ter)	VWF (Q198*)	Single nucleotide variant (nonsense)	von Willebrand disease type 3	GLikely pathogenic
Select item 1065265	NM_000552.5(VWF):c.5791C>T (p.Gln1931Ter)	VWF (Q1931*)	Single nucleotide variant (nonsense)	von Willebrand disease type 3	GPathogenic
Select item 1065264	NM_000552.5(VWF):c.5779T>C (p.Cys1927Arg)	VWF (C1927R)	Single nucleotide variant (missense variant)	von Willebrand disease type 3	GUncertain significance
Select item 1065263	NM_000552.5(VWF):c.5455+2T>C	VWF	Single nucleotide variant (splice donor variant)	von Willebrand disease type 3	GUncertain significance
Select item 1065262	NM_000552.5(VWF):c.5429C>A (p.Ala1810Glu)	VWF (A1810E)	Single nucleotide variant (missense variant)	von Willebrand disease type 3	GUncertain significance
Select item 1065261	NM_000552.5(VWF):c.533-3C>G	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 3	GUncertain significance
Select item 1065260	NM_000552.5(VWF):c.5170+1G>A	VWF	Single nucleotide variant (splice donor variant)	Hereditary von Willebrand disease	GLikely pathogenic
Select item 1065259	NM_000552.5(VWF):c.5146G>A (p.Ala1716Thr)	VWF (A1716T)	Single nucleotide variant (missense variant)	von Willebrand disease type 3	GUncertain significance
Select item 1065258	NM_000552.5(VWF):c.5096C>T (p.Ser1699Phe)	VWF (S1699F)	Single nucleotide variant (missense variant)	von Willebrand disease type 2	GLikely pathogenic
Select item 1065257	NM_000552.5(VWF):c.5085_5087del (p.Leu1696del)	VWF (L1696del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1065256	NM_000552.5(VWF):c.498C>A (p.Asn166Lys)	VWF (N166K)	Single nucleotide variant (missense variant)	von Willebrand disease type 3	GUncertain significance
Select item 1065255	NM_000552.5(VWF):c.220G>A (p.Gly74Arg)	VWF (G74R)	Single nucleotide variant (missense variant)	von Willebrand disease type 3	GUncertain significance
Select item 1065254	NM_000552.5(VWF):c.2186+2T>C	VWF	Single nucleotide variant (splice donor variant)	von Willebrand disease type 3	GUncertain significance
Select item 1065253	NM_000552.5(VWF):c.2071_2072delinsG (p.Pro691fs)	VWF (P691fs)	Indel (frameshift variant)	von Willebrand disease type 3	GPathogenic
Select item 1065252	NM_000552.5(VWF):c.2018_2019del (p.Ser673fs)	VWF (S673fs)	Microsatellite (frameshift variant)	von Willebrand disease type 3	GPathogenic
Select item 1065251	NM_000552.5(VWF):c.1945+1G>T	VWF	Single nucleotide variant (splice donor variant)	von Willebrand disease type 3	GUncertain significance
Select item 1065250	NM_000552.5(VWF):c.1931_1945+5del	VWF	Deletion (splice donor variant)	von Willebrand disease type 3	GLikely pathogenic
Select item 1065249	NM_000552.5(VWF):c.1729+3A>C	VWF	Single nucleotide variant (intron variant)	von Willebrand disease type 3	GUncertain significance
Select item 1065248	NM_000552.5(VWF):c.1693C>T (p.Gln565Ter)	VWF (Q565*)	Single nucleotide variant (nonsense)	von Willebrand disease type 3	GPathogenic
Select item 1065247	NM_000552.5(VWF):c.1659G>A (p.Trp553Ter)	VWF (W553*)	Single nucleotide variant (nonsense)	von Willebrand disease type 3	GPathogenic
Select item 1065246	NM_000552.5(VWF):c.1581del (p.Asn526_Tyr527insTer)	VWF	Deletion (nonsense)	von Willebrand disease type 3	GPathogenic
Select item 1065245	NM_000552.5(VWF):c.1574G>A (p.Gly525Glu)	VWF (G525E)	Single nucleotide variant (missense variant)	von Willebrand disease type 3	GUncertain significance
Select item 1065244	NM_000552.5(VWF):c.1320C>A (p.Cys440Ter)	VWF (C440*)	Single nucleotide variant (nonsense)	von Willebrand disease type 3	GPathogenic
Select item 1065243	NM_000552.5(VWF):c.1239dup (p.Leu414fs)	VWF (L414fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1065242	NM_000552.5(VWF):c.1130G>A (p.Trp377Ter)	VWF (W377*)	Single nucleotide variant (nonsense)	von Willebrand disease type 3	GPathogenic
Select item 1065241	NM_000552.5(VWF):c.1116C>A (p.Cys372Ter)	VWF (C372*)	Single nucleotide variant (nonsense)	von Willebrand disease type 3	GPathogenic
Select item 1065240	NM_000552.5(VWF):c.1051del (p.Val351fs)	VWF (V351fs)	Deletion (frameshift variant)	von Willebrand disease type 3	GLikely pathogenic
Select item 1065239	NC_000012.11:g.(6204751_6219539)_(6220135_6230339)del	VWF	Deletion	von Willebrand disease type 3	GPathogenic
Select item 1065238	GRCh37/hg19 12p13.31(chr12:6127530-6233842)	VWF	Copy number gain	von Willebrand disease type 3	GPathogenic
Select item 1065237	NC_000012.11:g.(?_6058180)_(6105389_6120781)del	VWF	Deletion	von Willebrand disease type 3	GPathogenic
Select item 1065236	NC_000012.11:g.(6184718_6204625)_(6204751_6219539)del	VWF	Deletion	von Willebrand disease type 3	GPathogenic
Select item 1065235	NC_000012.11:g.(6105389_6120782)_(6220135_6230339)del	VWF	Deletion	von Willebrand disease type 3	GPathogenic
Select item 1065234	NC_000012.11:g.(6153618_6155888)_(6155984_6161708)del	VWF	Deletion	von Willebrand disease type 3	GPathogenic
Select item 1065233	NC_000012.11:g.(6161950_6166021)_(6167211_6172119)del	VWF	Deletion	von Willebrand disease type 3	GPathogenic
Select item 1065232	NC_000012.11:g.(6204751_6219539)_(6233842_?)del	VWF	Deletion	von Willebrand disease type 3	GPathogenic
Select item 1065231	NC_000012.11:g.(6220135_6230339)_(6233842_?)del	VWF	Deletion	von Willebrand disease type 3	GPathogenic
Select item 1065230	NC_000012.11:g.(?_6058180)_(6233842_?)del	VWF	Deletion	von Willebrand disease type 3	GPathogenic
Select item 1065229	NC_000012.11:g.6128633_6128795delins[NC_000022.10:g.17178770_17178932]	VWF	Indel	von Willebrand disease type 3	GPathogenic
Select item 1065228	NC_000012.11:g.6128479_6128749delins[NC_000022.10:g.17178616_17178886]	VWF	Indel	von Willebrand disease type 3	GPathogenic
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 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 1065225	NM_000552.5(VWF):c.8155+6T>C	VWF	Single nucleotide variant (intron variant)	not provided	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 1065223	NM_000552.5(VWF):c.8155+1G>T	VWF	Single nucleotide variant (splice donor variant)	von Willebrand disease type 3	GLikely pathogenic

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