ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
Download table as spreadsheet
HGVS dbSNP
NM_000551.3(VHL):c.-75_-55del rs727503744
NM_000551.3(VHL):c.189dup (p.Arg64fs) rs1553619402
NM_000551.3(VHL):c.192del (p.Ser65fs) rs730882031
NM_000551.3(VHL):c.193T>G (p.Ser65Ala) rs869025616
NM_000551.3(VHL):c.214T>C (p.Ser72Pro) rs869025618
NM_000551.3(VHL):c.232A>T (p.Asn78Tyr) rs869025621
NM_000551.3(VHL):c.233A>C (p.Asn78Thr) rs5030804
NM_000551.3(VHL):c.242C>T (p.Pro81Leu) rs193922608
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.264G>T (p.Trp88Cys) rs869025622
NM_000551.3(VHL):c.269A>T (p.Asn90Ile) rs143985153
NM_000551.3(VHL):c.277G>C (p.Gly93Arg) rs5030808
NM_000551.3(VHL):c.311G>T (p.Gly104Val) rs869025630
NM_000551.3(VHL):c.311_340+20del rs869025629
NM_000551.3(VHL):c.320G>A (p.Arg107His) rs193922609
NM_000551.3(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.3(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000551.3(VHL):c.333C>G (p.Ser111Arg) rs765978945
NM_000551.3(VHL):c.336C>G (p.Tyr112Ter) rs751232153
NM_000551.3(VHL):c.340+1G>C rs730882032
NM_000551.3(VHL):c.341-25_370dup rs1553619923
NM_000551.3(VHL):c.358A>G (p.Arg120Gly) rs869025642
NM_000551.3(VHL):c.371C>T (p.Thr124Ile) rs193922610
NM_000551.3(VHL):c.392A>G (p.Asn131Ser) rs1553619963
NM_000551.3(VHL):c.407T>C (p.Phe136Ser) rs5030833
NM_000551.3(VHL):c.430G>T (p.Gly144Ter) rs869025650
NM_000551.3(VHL):c.458T>A (p.Leu153Gln) rs193922611
NM_000551.3(VHL):c.486C>A (p.Cys162Ter) rs5030622
NM_000551.3(VHL):c.490C>T (p.Gln164Ter) rs5030819
NM_000551.3(VHL):c.492G>T (p.Gln164His) rs1352275281
NM_000551.3(VHL):c.500G>C (p.Arg167Pro) rs5030821
NM_000551.3(VHL):c.524A>G (p.Tyr175Cys) rs193922613
NM_000551.3(VHL):c.556G>A (p.Glu186Lys) rs367545984
NM_000551.3(VHL):c.563T>A (p.Leu188Gln) rs1559429824
NM_000551.3(VHL):c.563T>C (p.Leu188Pro) rs1559429824
NM_000551.3(VHL):c.593T>C (p.Leu198Pro) rs869025667
NM_000551.3(VHL):c.641G>T (p.Ter214Leu) rs869025668
NM_000551.3(VHL):c.642A>G (p.Ter214Trp) rs1559430011
NM_000551.3(VHL):c.642A>T (p.Ter214Cys) rs1559430011
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.4(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000551.4(VHL):c.419_427delinsACAATTATTTGTGCCATCTCTCAA (p.Leu140_Asp143delinsHisAsnTyrLeuCysHisLeuSerAsn) rs1559428180
NM_000551.4(VHL):c.463+2T>G rs5030814
NM_000551.4(VHL):c.483del (p.Cys162fs)
NM_000551.4(VHL):c.508G>C (p.Val170Leu) rs1553620326
NM_000551.4(VHL):c.547del (p.Ser183fs) rs1559429778
NM_000551.4(VHL):c.565del (p.Glu189fs) rs1559429829
NM_000551.4(VHL):c.640T>A (p.Ter214Arg) rs1575932781
NM_001354723.2(VHL):c.*141_*144dup rs869025666
NM_001354723.2(VHL):c.*25dup rs869025661
NM_001354723.2(VHL):c.*50_*60del rs869025663
NM_198156.3(VHL):c.341-3233_341-3232delinsTT rs869025645
p.X214Trp

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.