ClinVar Miner

List of variants reported as pathogenic for Von Hippel-Lindau syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 219
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_000551.4(VHL):c.292T>C (p.Tyr98His) rs5030809 0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp) rs5030820 0.00001
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366 0.00001
NC_000003.11:g.10160443_10184298del
NC_000003.11:g.10167511_10193484del
NC_000003.11:g.10169230_10194915del
NC_000003.11:g.10170715_10188894del
NC_000003.11:g.10175778_10190168del
NC_000003.11:g.10175844_10187969del
NC_000003.11:g.10179846_10190051del
NC_000003.11:g.10180085_10190286del
NC_000003.11:g.10182212_10212738del
NC_000003.11:g.10184086_10218542del
NC_000003.11:g.10188005_10207561del
NC_000003.11:g.10188894_10200033del
NC_000003.11:g.10189293_10201409del
NC_000003.11:g.10189323_10202010del
NC_000003.11:g.10190033_10209132del
NC_000003.12:g.10133996_10152871del
NC_000003.12:g.10135142_10142466del
NC_000003.12:g.10135142_10143568del
NC_000003.12:g.10137026_10145481del
NC_000003.12:g.10137102_10143357del
NC_000003.12:g.10139220_10148953del
NC_000003.12:g.10139708_10142406del
NC_000003.12:g.10139761_10142459del
NC_000003.12:g.10140148_10140759del rs1696067154
NC_000003.12:g.10140648_10148414del
NC_000003.12:g.10140738_10142535del
NC_000003.12:g.10141523_10142610del
NC_000003.12:g.10148440_10158273del
NC_000003.12:g.10148566_10158401del
NC_000003.12:g.10148615_10158450del
NM_000551.3(VHL):c.(?_464)_642+?del
NM_000551.4(VHL):c.163dup (p.Glu55fs) rs869025615
NM_000551.4(VHL):c.164_171dup (p.Arg60fs) rs886041345
NM_000551.4(VHL):c.170_177del (p.Gly57fs)
NM_000551.4(VHL):c.189_192del (p.Arg64_Ser65insTer) rs869025647
NM_000551.4(VHL):c.189dup (p.Arg64fs) rs1553619402
NM_000551.4(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000551.4(VHL):c.193T>C (p.Ser65Pro) rs869025616
NM_000551.4(VHL):c.194C>A (p.Ser65Ter) rs5030826
NM_000551.4(VHL):c.194C>G (p.Ser65Trp) rs5030826
NM_000551.4(VHL):c.203C>A (p.Ser68Ter) rs869025617
NM_000551.4(VHL):c.206dup (p.Glu70fs) rs1553619415
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.208G>T (p.Glu70Ter) rs5030802
NM_000551.4(VHL):c.213del (p.Ser72fs)
NM_000551.4(VHL):c.217C>T (p.Gln73Ter) rs869025619
NM_000551.4(VHL):c.221del (p.Val74fs) rs869025620
NM_000551.4(VHL):c.223_225del (p.Ile75del) rs794729660
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del) rs5030648
NM_000551.4(VHL):c.232A>C (p.Asn78His) rs869025621
NM_000551.4(VHL):c.232A>G (p.Asn78Asp) rs869025621
NM_000551.4(VHL):c.233A>G (p.Asn78Ser) rs5030804
NM_000551.4(VHL):c.233A>T (p.Asn78Ile) rs5030804
NM_000551.4(VHL):c.233del (p.Asn78fs) rs1559425925
NM_000551.4(VHL):c.238A>C (p.Ser80Arg) rs786202787
NM_000551.4(VHL):c.239G>T (p.Ser80Ile) rs5030805
NM_000551.4(VHL):c.239_261del (p.Ser80fs) rs1559425951
NM_000551.4(VHL):c.245G>C (p.Arg82Pro) rs794726890
NM_000551.4(VHL):c.250G>C (p.Val84Leu) rs5030827
NM_000551.4(VHL):c.250G>T (p.Val84Leu) rs5030827
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.4(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.4(VHL):c.257C>T (p.Pro86Leu) rs730882034
NM_000551.4(VHL):c.258del (p.Val87fs) rs864622545
NM_000551.4(VHL):c.258dup (p.Val87fs) rs864622545
NM_000551.4(VHL):c.259_260del (p.Val87fs)
NM_000551.4(VHL):c.262T>A (p.Trp88Arg) rs1553619431
NM_000551.4(VHL):c.262T>C (p.Trp88Arg) rs1553619431
NM_000551.4(VHL):c.263G>A (p.Trp88Ter) rs119103277
NM_000551.4(VHL):c.263G>C (p.Trp88Ser) rs119103277
NM_000551.4(VHL):c.266T>C (p.Leu89Pro) rs5030807
NM_000551.4(VHL):c.269del (p.Asn90fs) rs869025623
NM_000551.4(VHL):c.277G>A (p.Gly93Ser) rs5030808
NM_000551.4(VHL):c.277G>T (p.Gly93Cys) rs5030808
NM_000551.4(VHL):c.278G>A (p.Gly93Asp) rs1553619440
NM_000551.4(VHL):c.278del (p.Gly93fs) rs1131690964
NM_000551.4(VHL):c.280G>T (p.Glu94Ter) rs5030829
NM_000551.4(VHL):c.292T>A (p.Tyr98Asn)
NM_000551.4(VHL):c.292_295del (p.Tyr98fs) rs1559426095
NM_000551.4(VHL):c.293A>G (p.Tyr98Cys) rs864321643
NM_000551.4(VHL):c.293dup (p.Tyr98Ter) rs869025624
NM_000551.4(VHL):c.294C>G (p.Tyr98Ter) rs1559426115
NM_000551.4(VHL):c.296dup (p.Thr100fs) rs869025625
NM_000551.4(VHL):c.300dup (p.Leu101fs) rs869025626
NM_000551.4(VHL):c.304_305dup (p.Pro103fs) rs1559426145
NM_000551.4(VHL):c.309del (p.Gly104fs) rs869025627
NM_000551.4(VHL):c.309dup (p.Gly104fs) rs869025628
NM_000551.4(VHL):c.313A>C (p.Thr105Pro) rs1553619461
NM_000551.4(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000551.4(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.4(VHL):c.331A>C (p.Ser111Arg)
NM_000551.4(VHL):c.331A>G (p.Ser111Gly) rs1559426203
NM_000551.4(VHL):c.332G>A (p.Ser111Asn) rs869025631
NM_000551.4(VHL):c.334T>A (p.Tyr112Asn) rs104893824
NM_000551.4(VHL):c.334T>C (p.Tyr112His) rs104893824
NM_000551.4(VHL):c.335_340+5del rs869025632
NM_000551.4(VHL):c.337C>T (p.Arg113Ter) rs5030810
NM_000551.4(VHL):c.340+1019_463+450del
NM_000551.4(VHL):c.340+1543_464-1191del
NM_000551.4(VHL):c.340+1580_464-1477del
NM_000551.4(VHL):c.340+1G>A rs730882032
NM_000551.4(VHL):c.340+221_464-1411del
NM_000551.4(VHL):c.340+283_463+499del
NM_000551.4(VHL):c.340+2_340+6del rs869025634
NM_000551.4(VHL):c.340+307_464-1191del
NM_000551.4(VHL):c.340+365_464-909del
NM_000551.4(VHL):c.340+428_464-1203del
NM_000551.4(VHL):c.340+444_464-1187del
NM_000551.4(VHL):c.340+994_*2333del
NM_000551.4(VHL):c.340G>C (p.Gly114Arg) rs869025636
NM_000551.4(VHL):c.341-1382_*3401del
NM_000551.4(VHL):c.341-1406_*3377del
NM_000551.4(VHL):c.341-1583_464-1477del
NM_000551.4(VHL):c.341-1857_464-1328del
NM_000551.4(VHL):c.341-1G>A rs1575927648
NM_000551.4(VHL):c.341-1G>T
NM_000551.4(VHL):c.341-279_464-614del
NM_000551.4(VHL):c.341-2A>G rs869025637
NM_000551.4(VHL):c.341-2A>T
NM_000551.4(VHL):c.341-49_*2815del
NM_000551.4(VHL):c.341-929_*3191del
NM_000551.4(VHL):c.341-951_464-1018del
NM_000551.4(VHL):c.345C>A (p.His115Gln) rs864622646
NM_000551.4(VHL):c.346dup (p.Leu116fs) rs1559428051
NM_000551.4(VHL):c.350G>A (p.Trp117Ter) rs1559428056
NM_000551.4(VHL):c.351G>T (p.Trp117Cys) rs727504215
NM_000551.4(VHL):c.351del (p.Trp117fs) rs869025640
NM_000551.4(VHL):c.352_353insA (p.Leu118fs) rs869025641
NM_000551.4(VHL):c.353T>G (p.Leu118Arg) rs5030830
NM_000551.4(VHL):c.355T>C (p.Phe119Leu) rs1553619948
NM_000551.4(VHL):c.357C>G (p.Phe119Leu) rs1559428077
NM_000551.4(VHL):c.362A>G (p.Asp121Gly) rs5030832
NM_000551.4(VHL):c.363del (p.Asp121fs) rs2125128271
NM_000551.4(VHL):c.374A>C (p.His125Pro) rs869025643
NM_000551.4(VHL):c.374_375del (p.His125fs) rs869025644
NM_000551.4(VHL):c.377del (p.Asp126fs) rs1553619952
NM_000551.4(VHL):c.381del (p.Leu128fs) rs1559428107
NM_000551.4(VHL):c.388G>C (p.Val130Leu) rs104893830
NM_000551.4(VHL):c.388G>T (p.Val130Phe) rs104893830
NM_000551.4(VHL):c.393_394dup (p.Gln132fs) rs1559428128
NM_000551.4(VHL):c.394C>T (p.Gln132Ter) rs5030813
NM_000551.4(VHL):c.395A>C (p.Gln132Pro) rs1347416980
NM_000551.4(VHL):c.397del (p.Thr133fs) rs1559428134
NM_000551.4(VHL):c.402del (p.Glu134fs) rs869025646
NM_000551.4(VHL):c.405A>C (p.Leu135Phe) rs119103278
NM_000551.4(VHL):c.407T>C (p.Phe136Ser) rs5030833
NM_000551.4(VHL):c.408del (p.Phe136fs) rs397516442
NM_000551.4(VHL):c.413del (p.Pro138fs) rs1559428164
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.431del (p.Gly144fs) rs869025651
NM_000551.4(VHL):c.433C>T (p.Gln145Ter) rs749704215
NM_000551.4(VHL):c.433_439del (p.Gln145fs) rs1559428217
NM_000551.4(VHL):c.435_436del (p.Gln145fs) rs869025652
NM_000551.4(VHL):c.444del (p.Phe148fs) rs869025653
NM_000551.4(VHL):c.444dup (p.Ala149fs) rs869025653
NM_000551.4(VHL):c.445G>A (p.Ala149Thr) rs587780077
NM_000551.4(VHL):c.445G>T (p.Ala149Ser) rs587780077
NM_000551.4(VHL):c.445dup (p.Ala149fs) rs1559428232
NM_000551.4(VHL):c.449del (p.Asn150fs) rs794727253
NM_000551.4(VHL):c.452T>C (p.Ile151Thr) rs869025655
NM_000551.4(VHL):c.452T>G (p.Ile151Ser) rs869025655
NM_000551.4(VHL):c.454_463+17del rs869025656
NM_000551.4(VHL):c.460C>T (p.Pro154Ser) rs1553619993
NM_000551.4(VHL):c.462del (p.Val155fs) rs1559428267
NM_000551.4(VHL):c.463+1008_*2803del
NM_000551.4(VHL):c.463+1G>C rs869025657
NM_000551.4(VHL):c.463+439_*991del
NM_000551.4(VHL):c.464-1226_*2771del
NM_000551.4(VHL):c.464-1G>A rs5030817
NM_000551.4(VHL):c.464-1G>C rs5030817
NM_000551.4(VHL):c.464-1G>T rs5030817
NM_000551.4(VHL):c.464-2A>G rs5030816
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.4(VHL):c.470C>T (p.Thr157Ile) rs869025660
NM_000551.4(VHL):c.473T>C (p.Leu158Pro) rs121913346
NM_000551.4(VHL):c.474_476delinsC (p.Lys159fs) rs1553620305
NM_000551.4(VHL):c.475A>T (p.Lys159Ter) rs1575932011
NM_000551.4(VHL):c.477del (p.Glu160fs) rs730882020
NM_000551.4(VHL):c.477dup (p.Glu160fs) rs730882020
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.4(VHL):c.482G>A (p.Arg161Gln) rs730882035
NM_000551.4(VHL):c.484T>C (p.Cys162Arg) rs1553620313
NM_000551.4(VHL):c.485G>A (p.Cys162Tyr) rs397516444
NM_000551.4(VHL):c.485G>T (p.Cys162Phe) rs397516444
NM_000551.4(VHL):c.486C>G (p.Cys162Trp) rs5030622
NM_000551.4(VHL):c.490C>T (p.Gln164Ter) rs5030819
NM_000551.4(VHL):c.491A>G (p.Gln164Arg) rs267607170
NM_000551.4(VHL):c.496G>T (p.Val166Phe) rs104893825
NM_000551.4(VHL):c.497T>A (p.Val166Asp) rs397516445
NM_000551.4(VHL):c.497T>C (p.Val166Ala) rs397516445
NM_000551.4(VHL):c.499C>G (p.Arg167Gly) rs5030820
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs) rs398123483
NM_000551.4(VHL):c.509T>A (p.Val170Asp) rs864321642
NM_000551.4(VHL):c.525C>G (p.Tyr175Ter) rs5030835
NM_000551.4(VHL):c.526del (p.Arg176fs) rs1559429711
NM_000551.4(VHL):c.529A>T (p.Arg177Ter) rs1559429717
NM_000551.4(VHL):c.531_542delinsTC (p.Arg177fs) rs1553620331
NM_000551.4(VHL):c.533T>A (p.Leu178Gln) rs5030822
NM_000551.4(VHL):c.533T>C (p.Leu178Pro) rs5030822
NM_000551.4(VHL):c.533T>G (p.Leu178Arg) rs5030822
NM_000551.4(VHL):c.533_534del (p.Leu178fs) rs1559429736
NM_000551.4(VHL):c.548C>A (p.Ser183Ter) rs5030823
NM_000551.4(VHL):c.555C>G (p.Tyr185Ter) rs864622109
NM_000551.4(VHL):c.555_557del (p.Tyr185_Glu186delinsTer)
NM_000551.4(VHL):c.575C>T (p.Pro192Leu) rs902694906
NM_000551.4(VHL):c.575del (p.Pro192fs) rs2125130735
NM_000551.4(VHL):c.583C>T (p.Gln195Ter) rs5030825
NM_000551.4(VHL):c.585_586del (p.Lys196fs) rs1553620362
NM_000551.4(VHL):c.586A>T (p.Lys196Ter) rs281860296
NM_000551.4(VHL):c.597del (p.Glu199fs)
NM_000551.4(VHL):c.[340+617C>G;340+648T>C]
NM_198156.3(VHL):c.341-3273del rs869025638

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.