ClinVar Miner

List of variants in gene VHL reported as pathogenic for Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome

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Gene type:
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Total variants: 58
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HGVS dbSNP
NC_000003.11:g.(?_10180443_10183830del
NC_000003.11:g.(?_10183532)_(10188330_?)del
NC_000003.12:g.(?_10141635)_(10142187_?)del
NC_000003.12:g.(?_10141828)_(10146656_?)del
NC_000003.12:g.(?_10141838)_(10142197_?)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)_(10150035_?)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_000551.4(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)

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