List of variants reported as likely pathogenic for Von Hippel-Lindau syndrome by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 35

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000551.4(VHL):c.242C>T (p.Pro81Leu)	rs193922608	0.00001
NM_000551.4(VHL):c.341-25_370dup	rs1553619923	0.00001
NM_000551.4(VHL):c.193T>G (p.Ser65Ala)	rs869025616
NM_000551.4(VHL):c.214T>C (p.Ser72Pro)	rs869025618
NM_000551.4(VHL):c.232A>T (p.Asn78Tyr)	rs869025621
NM_000551.4(VHL):c.233A>C (p.Asn78Thr)	rs5030804
NM_000551.4(VHL):c.256C>G (p.Pro86Ala)	rs398123481
NM_000551.4(VHL):c.257C>G (p.Pro86Arg)	rs730882034
NM_000551.4(VHL):c.264G>T (p.Trp88Cys)	rs869025622
NM_000551.4(VHL):c.269A>T (p.Asn90Ile)	rs143985153
NM_000551.4(VHL):c.277G>C (p.Gly93Arg)	rs5030808
NM_000551.4(VHL):c.311G>T (p.Gly104Val)	rs869025630
NM_000551.4(VHL):c.311_340+20del	rs869025629
NM_000551.4(VHL):c.320G>A (p.Arg107His)	rs193922609
NM_000551.4(VHL):c.333C>G (p.Ser111Arg)	rs765978945
NM_000551.4(VHL):c.358A>G (p.Arg120Gly)	rs869025642
NM_000551.4(VHL):c.381_382delinsTT (p.Leu128Phe)	rs869025645
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.419_427delinsACAATTATTTGTGCCATCTCTCAA (p.Leu140_Asp143delinsHisAsnTyrLeuCysHisLeuSerAsn)	rs1559428180
NM_000551.4(VHL):c.430G>T (p.Gly144Ter)	rs869025650
NM_000551.4(VHL):c.471dup (p.Leu158fs)	rs869025661
NM_000551.4(VHL):c.486C>A (p.Cys162Ter)	rs5030622
NM_000551.4(VHL):c.490C>T (p.Gln164Ter)	rs5030819
NM_000551.4(VHL):c.496_506del (p.Val166fs)	rs869025663
NM_000551.4(VHL):c.500G>C (p.Arg167Pro)	rs5030821
NM_000551.4(VHL):c.547del (p.Ser183fs)	rs1559429778
NM_000551.4(VHL):c.563T>A (p.Leu188Gln)	rs1559429824
NM_000551.4(VHL):c.563T>C (p.Leu188Pro)	rs1559429824
NM_000551.4(VHL):c.565del (p.Glu189fs)	rs1559429829
NM_000551.4(VHL):c.587_590dup (p.Asp197fs)	rs869025666
NM_000551.4(VHL):c.593T>C (p.Leu198Pro)	rs869025667
NM_000551.4(VHL):c.641G>T (p.Ter214Leu)	rs869025668
NM_000551.4(VHL):c.642A>G (p.Ter214Trp)	rs1559430011
NM_000551.4(VHL):c.642A>T (p.Ter214Cys)	rs1559430011

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.