ClinVar Miner

Variants with conflicting interpretations studied for Von Hippel-Lindau syndrome

Coded as:
Minimum review status of the submission for Von Hippel-Lindau syndrome: Collection method of the submission for Von Hippel-Lindau syndrome:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
644 116 0 95 40 0 17 143

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Von Hippel-Lindau syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 23 4 1 1
likely pathogenic 23 0 13 0 1
uncertain significance 4 13 0 36 11
likely benign 1 0 36 0 72
benign 1 1 11 72 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
Von Hippel-Lindau syndrome 644 116 0 95 40 0 17 143

All variants with conflicting interpretations #

Total variants: 143
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_000551.4(VHL):c.150C>G (p.Ala50=) rs61751580 0.00070
NM_000551.4(VHL):c.183C>G (p.Pro61=) rs63650860 0.00067
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00050
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_000551.4(VHL):c.-73C>T rs1034934219 0.00032
NM_000551.4(VHL):c.341-6C>T rs191201783 0.00019
NM_000551.4(VHL):c.246C>T (p.Arg82=) rs587780993 0.00014
NM_000551.4(VHL):c.-64C>T rs772944298 0.00013
NM_000551.4(VHL):c.629G>A (p.Arg210Gln) rs138780791 0.00013
NM_000551.4(VHL):c.*70C>T rs552290225 0.00011
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00009
NM_000551.4(VHL):c.5C>T (p.Pro2Leu) rs111246617 0.00008
NM_000551.4(VHL):c.135G>A (p.Pro45=) rs773519476 0.00007
NM_000551.4(VHL):c.25G>A (p.Asp9Asn) rs587780730 0.00007
NM_000551.4(VHL):c.28G>A (p.Glu10Lys) rs1057519261 0.00006
NM_000551.4(VHL):c.531A>G (p.Arg177=) rs766088261 0.00006
NM_000551.4(VHL):c.89G>A (p.Gly30Glu) rs1064793290 0.00006
NM_000551.4(VHL):c.464-10G>A rs552930903 0.00005
NM_000551.4(VHL):c.552C>T (p.Leu184=) rs779157605 0.00005
NM_000551.4(VHL):c.114C>T (p.Ser38=) rs417164 0.00004
NM_000551.4(VHL):c.119C>T (p.Pro40Leu) rs200343185 0.00004
NM_000551.4(VHL):c.213C>T (p.Pro71=) rs201663073 0.00004
NM_000551.4(VHL):c.555C>T (p.Tyr185=) rs864622109 0.00004
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_000551.4(VHL):c.631A>C (p.Met211Leu) rs200019083 0.00004
NM_000551.4(VHL):c.639T>C (p.Asp213=) rs775624944 0.00004
NM_000551.4(VHL):c.22T>C (p.Trp8Arg) rs1352171735 0.00003
NM_000551.4(VHL):c.375C>T (p.His125=) rs863224372 0.00003
NM_000551.4(VHL):c.420C>A (p.Leu140=) rs369465430 0.00003
NM_000551.4(VHL):c.549G>A (p.Ser183=) rs193922614 0.00003
NM_000551.4(VHL):c.315G>C (p.Thr105=) rs769102979 0.00002
NM_000551.4(VHL):c.323G>A (p.Arg108His) rs367594943 0.00002
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) rs104893831 0.00002
NM_000551.4(VHL):c.48G>A (p.Glu16=) rs1057522140 0.00002
NM_000551.4(VHL):c.628C>T (p.Arg210Trp) rs774380450 0.00002
NM_000551.4(VHL):c.*7C>A rs778005138 0.00001
NM_000551.4(VHL):c.105C>G (p.Ala35=) rs1310829877 0.00001
NM_000551.4(VHL):c.12G>A (p.Arg4=) rs1553619274 0.00001
NM_000551.4(VHL):c.134C>G (p.Pro45Arg) rs199583685 0.00001
NM_000551.4(VHL):c.141A>G (p.Glu47=) rs1353920298 0.00001
NM_000551.4(VHL):c.165G>A (p.Glu55=) rs1553619391 0.00001
NM_000551.4(VHL):c.171G>A (p.Gly57=) rs750103719 0.00001
NM_000551.4(VHL):c.172C>T (p.Arg58Trp) rs757781272 0.00001
NM_000551.4(VHL):c.192C>T (p.Arg64=) rs1012545817 0.00001
NM_000551.4(VHL):c.1A>T (p.Met1Leu) rs1060503557 0.00001
NM_000551.4(VHL):c.216C>T (p.Ser72=) rs774557051 0.00001
NM_000551.4(VHL):c.222C>G (p.Val74=) rs759737367 0.00001
NM_000551.4(VHL):c.242C>T (p.Pro81Leu) rs193922608 0.00001
NM_000551.4(VHL):c.249C>G (p.Val83=) rs1271292937 0.00001
NM_000551.4(VHL):c.252G>C (p.Val84=) rs1436342215 0.00001
NM_000551.4(VHL):c.255G>A (p.Leu85=) rs876658508 0.00001
NM_000551.4(VHL):c.258C>G (p.Pro86=) rs781063331 0.00001
NM_000551.4(VHL):c.261A>G (p.Val87=) rs1386184754 0.00001
NM_000551.4(VHL):c.291C>G (p.Pro97=) rs1805159 0.00001
NM_000551.4(VHL):c.340+770T>C rs1346312258 0.00001
NM_000551.4(VHL):c.341-25_370dup rs1553619923 0.00001
NM_000551.4(VHL):c.385C>T (p.Leu129=) rs369018004 0.00001
NM_000551.4(VHL):c.387G>T (p.Leu129=) rs778846471 0.00001
NM_000551.4(VHL):c.39A>G (p.Val13=) rs996469746 0.00001
NM_000551.4(VHL):c.417T>G (p.Ser139=) rs1406004337 0.00001
NM_000551.4(VHL):c.471T>C (p.Thr157=) rs1252473811 0.00001
NM_000551.4(VHL):c.507A>C (p.Leu169=) rs878854126 0.00001
NM_000551.4(VHL):c.510C>A (p.Val170=) rs765224880 0.00001
NM_000551.4(VHL):c.538A>G (p.Ile180Val) rs377715747 0.00001
NM_000551.4(VHL):c.540C>T (p.Ile180=) rs374927292 0.00001
NM_000551.4(VHL):c.544A>G (p.Arg182Gly) rs778205243 0.00001
NM_000551.4(VHL):c.561T>C (p.Asp187=) rs370769257 0.00001
NM_000551.4(VHL):c.599G>A (p.Arg200Gln) rs754016774 0.00001
NM_000551.4(VHL):c.612G>A (p.Glu204=) rs747805018 0.00001
NM_000551.4(VHL):c.93G>C (p.Glu31Asp) rs1438911242 0.00001
NM_000551.4(VHL):c.99G>C (p.Ser33=) rs912159589 0.00001
NM_000551.4(VHL):c.*1_*3del (p.Ter214=) rs1286603999
NM_000551.4(VHL):c.-10C>G
NM_000551.4(VHL):c.-11T>C
NM_000551.4(VHL):c.-13G>C rs1057522448
NM_000551.4(VHL):c.120G>A (p.Pro40=) rs1189123803
NM_000551.4(VHL):c.123_137del (p.38SGPEE[1]) rs863224839
NM_000551.4(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_000551.4(VHL):c.180G>A (p.Arg60=) rs1224891387
NM_000551.4(VHL):c.189dup (p.Arg64fs) rs1553619402
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.21C>T (p.Asn7=) rs1060503561
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del) rs5030648
NM_000551.4(VHL):c.232A>G (p.Asn78Asp) rs869025621
NM_000551.4(VHL):c.239G>T (p.Ser80Ile) rs5030805
NM_000551.4(VHL):c.240T>C (p.Ser80=) rs1553619424
NM_000551.4(VHL):c.250G>A (p.Val84Met) 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.267C>T (p.Leu89=) rs755794553
NM_000551.4(VHL):c.276C>T (p.Asp92=) rs1442093467
NM_000551.4(VHL):c.27C>T (p.Asp9=) rs1017141110
NM_000551.4(VHL):c.284C>G (p.Pro95Arg) rs964996401
NM_000551.4(VHL):c.291C>T (p.Pro97=) rs1805159
NM_000551.4(VHL):c.293A>G (p.Tyr98Cys) rs864321643
NM_000551.4(VHL):c.311G>T (p.Gly104Val) rs869025630
NM_000551.4(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000551.4(VHL):c.330C>T (p.His110=) rs1696140667
NM_000551.4(VHL):c.334T>C (p.Tyr112His) rs104893824
NM_000551.4(VHL):c.335A>G (p.Tyr112Cys) rs869025633
NM_000551.4(VHL):c.335_340+5del rs869025632
NM_000551.4(VHL):c.340+7del rs1575922613
NM_000551.4(VHL):c.341-4A>T rs1559428033
NM_000551.4(VHL):c.341-5G>A rs372340900
NM_000551.4(VHL):c.345C>T (p.His115=) rs864622646
NM_000551.4(VHL):c.366A>C (p.Ala122=) rs1474241640
NM_000551.4(VHL):c.366A>G (p.Ala122=) rs1474241640
NM_000551.4(VHL):c.378T>C (p.Asp126=)
NM_000551.4(VHL):c.385C>G (p.Leu129Val) rs369018004
NM_000551.4(VHL):c.388G>T (p.Val130Phe) rs104893830
NM_000551.4(VHL):c.393C>A (p.Asn131Lys) rs1064794272
NM_000551.4(VHL):c.3G>A (p.Met1Ile) rs578091032
NM_000551.4(VHL):c.3G>T (p.Met1Ile) rs578091032
NM_000551.4(VHL):c.407T>C (p.Phe136Ser) rs5030833
NM_000551.4(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000551.4(VHL):c.432A>G (p.Gly144=) rs1575928044
NM_000551.4(VHL):c.433_439del (p.Gln145fs) rs1559428217
NM_000551.4(VHL):c.459G>T (p.Leu153=) rs1382653522
NM_000551.4(VHL):c.45G>A (p.Ala15=) rs563813895
NM_000551.4(VHL):c.460C>T (p.Pro154Ser) rs1553619993
NM_000551.4(VHL):c.463+5T>G rs1003364563
NM_000551.4(VHL):c.463G>A (p.Val155Met) rs869025659
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.4(VHL):c.485G>A (p.Cys162Tyr) rs397516444
NM_000551.4(VHL):c.489C>G (p.Leu163=) rs1575932067
NM_000551.4(VHL):c.490C>T (p.Gln164Ter) rs5030819
NM_000551.4(VHL):c.509T>A (p.Val170Asp) rs864321642
NM_000551.4(VHL):c.519G>A (p.Glu173=) rs1696359154
NM_000551.4(VHL):c.525C>T (p.Tyr175=) rs5030835
NM_000551.4(VHL):c.549G>T (p.Ser183=) rs193922614
NM_000551.4(VHL):c.558_560del (p.Glu186del) rs1559429813
NM_000551.4(VHL):c.563T>C (p.Leu188Pro) rs1559429824
NM_000551.4(VHL):c.575C>T (p.Pro192Leu) rs902694906
NM_000551.4(VHL):c.576A>C (p.Pro192=) rs1372952726
NM_000551.4(VHL):c.593T>C (p.Leu198Pro) rs869025667
NM_000551.4(VHL):c.613C>T (p.Arg205Cys) rs199926195
NM_000551.4(VHL):c.640T>A (p.Ter214Arg) rs1575932781
NM_000551.4(VHL):c.66G>A (p.Glu22=) rs768452685
NM_000551.4(VHL):c.72C>A (p.Gly24=) rs1375079282
NM_000551.4(VHL):c.72C>T (p.Gly24=) rs1375079282
NM_000551.4(VHL):c.87C>T (p.Gly29=) rs987301475

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.