ClinVar Miner

List of variants reported as pathogenic for Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome by Invitae

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ClinVar version:
Total variants: 123
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HGVS dbSNP
NC_000003.11:g.(?_10180443_10183830del
NC_000003.11:g.(?_10183532)_(10188330_?)del
NC_000003.11:g.10094065-?_10191654+?del
NC_000003.11:g.10106407-?_10191654+?del
NC_000003.12:g.(?_10052377)_(10149975_?)del
NC_000003.12:g.(?_10052377)_(10150035_?)del
NC_000003.12:g.(?_10064723)_(10149971_?)del
NC_000003.12:g.(?_10072861)_(10150035_?)del
NC_000003.12:g.(?_10141635)_(10142187_?)del
NC_000003.12:g.(?_10141635)_(10153670_?)del
NC_000003.12:g.(?_10141828)_(10146656_?)del
NC_000003.12:g.(?_10141838)_(10142197_?)del
NC_000003.12:g.(?_10141838)_(10149975_?)del
NC_000003.12:g.(?_10141848)_(10142197_?)del
NC_000003.12:g.(?_10141848)_(10143024_?)del
NC_000003.12:g.(?_10141848)_(10150035_?)del
NC_000003.12:g.(?_10146504)_(10146646_?)del
NC_000003.12:g.(?_10146504)_(10149975_?)del
NC_000003.12:g.(?_10146504)_(10150035_?)del
NC_000003.12:g.(?_10146508)_(10149971_?)del
NC_000003.12:g.(?_10146514)_(10146636_?)del
NC_000003.12:g.(?_10149777)_(10149975_?)del
NC_000003.12:g.(?_10149777)_(10150035_?)del
NM_000551.3(VHL):c.163dup (p.Glu55fs) rs869025615
NM_000551.3(VHL):c.179_192del (p.Arg60fs) rs1064796408
NM_000551.3(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000551.3(VHL):c.194C>A (p.Ser65Ter) rs5030826
NM_000551.3(VHL):c.194C>T (p.Ser65Leu) rs5030826
NM_000551.3(VHL):c.203C>A (p.Ser68Ter) rs869025617
NM_000551.3(VHL):c.214T>C (p.Ser72Pro) rs869025618
NM_000551.3(VHL):c.217C>T (p.Gln73Ter) rs869025619
NM_000551.3(VHL):c.226_227del (p.Phe76fs) rs1060503552
NM_000551.3(VHL):c.233A>G (p.Asn78Ser) rs5030804
NM_000551.3(VHL):c.238A>G (p.Ser80Gly) rs786202787
NM_000551.3(VHL):c.239G>T (p.Ser80Ile) rs5030805
NM_000551.3(VHL):c.245G>T (p.Arg82Leu) rs794726890
NM_000551.3(VHL):c.250G>C (p.Val84Leu) rs5030827
NM_000551.3(VHL):c.256C>G (p.Pro86Ala) rs398123481
NM_000551.3(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.3(VHL):c.257C>T (p.Pro86Leu) rs730882034
NM_000551.3(VHL):c.258del (p.Val87fs) rs864622545
NM_000551.3(VHL):c.262T>A (p.Trp88Arg) rs1553619431
NM_000551.3(VHL):c.262T>C (p.Trp88Arg) rs1553619431
NM_000551.3(VHL):c.263G>A (p.Trp88Ter) rs119103277
NM_000551.3(VHL):c.264G>C (p.Trp88Cys) rs869025622
NM_000551.3(VHL):c.264G>T (p.Trp88Cys) rs869025622
NM_000551.3(VHL):c.266T>C (p.Leu89Pro) rs5030807
NM_000551.3(VHL):c.277G>A (p.Gly93Ser) rs5030808
NM_000551.3(VHL):c.280G>T (p.Glu94Ter) rs5030829
NM_000551.3(VHL):c.291_302del (p.Tyr98_Leu101del) rs1575922296
NM_000551.3(VHL):c.292T>C (p.Tyr98His) rs5030809
NM_000551.3(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.3(VHL):c.293A>G (p.Tyr98Cys) rs864321643
NM_000551.3(VHL):c.331A>G (p.Ser111Gly) rs1559426203
NM_000551.3(VHL):c.331A>T (p.Ser111Cys) rs1559426203
NM_000551.3(VHL):c.334T>C (p.Tyr112His) rs104893824
NM_000551.3(VHL):c.335A>G (p.Tyr112Cys) rs869025633
NM_000551.3(VHL):c.336C>G (p.Tyr112Ter) rs751232153
NM_000551.3(VHL):c.337C>T (p.Arg113Ter) rs5030810
NM_000551.3(VHL):c.339_340+5del rs1575922562
NM_000551.3(VHL):c.340+1G>A rs730882032
NM_000551.3(VHL):c.340G>A (p.Gly114Ser) rs869025636
NM_000551.3(VHL):c.341-2A>G rs869025637
NM_000551.3(VHL):c.352_353insA (p.Leu118fs) rs869025641
NM_000551.3(VHL):c.353T>C (p.Leu118Pro) rs5030830
NM_000551.3(VHL):c.355T>C (p.Phe119Leu) rs1553619948
NM_000551.3(VHL):c.357C>G (p.Phe119Leu) rs1559428077
NM_000551.3(VHL):c.388G>C (p.Val130Leu) rs104893830
NM_000551.3(VHL):c.430G>T (p.Gly144Ter) rs869025650
NM_000551.3(VHL):c.452T>C (p.Ile151Thr) rs869025655
NM_000551.3(VHL):c.461C>T (p.Pro154Leu) rs1399097617
NM_000551.3(VHL):c.463+1G>A rs869025657
NM_000551.3(VHL):c.463+2T>C rs5030814
NM_000551.3(VHL):c.464-2A>G rs5030816
NM_000551.3(VHL):c.464-?_*3705del
NM_000551.3(VHL):c.472C>G (p.Leu158Val) rs1559429613
NM_000551.3(VHL):c.473T>C (p.Leu158Pro) rs121913346
NM_000551.3(VHL):c.482G>A (p.Arg161Gln) rs730882035
NM_000551.3(VHL):c.484T>C (p.Cys162Arg) rs1553620313
NM_000551.3(VHL):c.486C>A (p.Cys162Ter) rs5030622
NM_000551.3(VHL):c.486C>G (p.Cys162Trp) rs5030622
NM_000551.3(VHL):c.490C>T (p.Gln164Ter) rs5030819
NM_000551.3(VHL):c.491A>G (p.Gln164Arg) rs267607170
NM_000551.3(VHL):c.492G>C (p.Gln164His) rs1352275281
NM_000551.3(VHL):c.499C>T (p.Arg167Trp) rs5030820
NM_000551.3(VHL):c.500G>T (p.Arg167Leu) rs5030821
NM_000551.3(VHL):c.524A>G (p.Tyr175Cys) rs193922613
NM_000551.3(VHL):c.525C>G (p.Tyr175Ter) rs5030835
NM_000551.3(VHL):c.533T>C (p.Leu178Pro) rs5030822
NM_000551.3(VHL):c.548C>A (p.Ser183Ter) rs5030823
NM_000551.4(VHL):c.194C>G (p.Ser65Trp) rs5030826
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del) rs5030648
NM_000551.4(VHL):c.239G>A (p.Ser80Asn)
NM_000551.4(VHL):c.241_244dup (p.Arg82fs)
NM_000551.4(VHL):c.244_259dup (p.Val87fs)
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.4(VHL):c.264G>A (p.Trp88Ter)
NM_000551.4(VHL):c.264_267dup (p.Asn90fs)
NM_000551.4(VHL):c.298del (p.Thr100fs)
NM_000551.4(VHL):c.349T>G (p.Trp117Gly)
NM_000551.4(VHL):c.363dup (p.Ala122fs) rs1575927767
NM_000551.4(VHL):c.374_375del (p.His125fs) rs869025644
NM_000551.4(VHL):c.376_382delinsAA (p.Asp126fs)
NM_000551.4(VHL):c.400G>T (p.Glu134Ter)
NM_000551.4(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000551.4(VHL):c.419_420del (p.Leu140fs) rs869025649
NM_000551.4(VHL):c.448_449del (p.Asn150fs)
NM_000551.4(VHL):c.449del rs794727253
NM_000551.4(VHL):c.464-1G>A rs5030817
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000551.4(VHL):c.501_502insTTGTCCGT rs398123483
NM_000551.4(VHL):c.504_519del (p.Ser168fs)
NM_000551.4(VHL):c.505dup (p.Leu169fs)
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_001354723.2(VHL):c.*31del rs730882020
NM_001354723.2(VHL):c.*46G>T rs1352275281
NM_001354723.2(VHL):c.*94_*97del rs869025664
NM_198156.3(VHL):c.341-3170del rs869025653
NM_198156.3(VHL):c.341-3179_341-3178del rs869025652
NM_198156.3(VHL):c.341-3192dup rs1553619976
NM_198156.3(VHL):c.341-3237del rs1553619952

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