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

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

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_000551.4(VHL):c.242C>T (p.Pro81Leu)	rs193922608	0.00001
NM_000551.3(VHL):c.-75_-55del	rs727503744
NM_000551.4(VHL):c.189dup (p.Arg64fs)	rs1553619402
NM_000551.4(VHL):c.192del (p.Ser65fs)	rs730882031
NM_000551.4(VHL):c.193T>G (p.Ser65Ala)	rs869025616
NM_000551.4(VHL):c.208G>A (p.Glu70Lys)	rs5030802
NM_000551.4(VHL):c.214T>C (p.Ser72Pro)	rs869025618
NM_000551.4(VHL):c.222_225dup (p.Phe76fs)
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.232A>T (p.Asn78Tyr)	rs869025621
NM_000551.4(VHL):c.233A>C (p.Asn78Thr)	rs5030804
NM_000551.4(VHL):c.238A>G (p.Ser80Gly)	rs786202787
NM_000551.4(VHL):c.239G>T (p.Ser80Ile)	rs5030805
NM_000551.4(VHL):c.245G>T (p.Arg82Leu)	rs794726890
NM_000551.4(VHL):c.250G>A (p.Val84Met)	rs5030827
NM_000551.4(VHL):c.256C>G (p.Pro86Ala)	rs398123481
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.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.284C>G (p.Pro95Arg)	rs964996401
NM_000551.4(VHL):c.293A>G (p.Tyr98Cys)	rs864321643
NM_000551.4(VHL):c.302T>G (p.Leu101Arg)
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.326T>A (p.Ile109Asn)	rs398123482
NM_000551.4(VHL):c.333C>G (p.Ser111Arg)	rs765978945
NM_000551.4(VHL):c.336C>G (p.Tyr112Ter)	rs751232153
NM_000551.4(VHL):c.340+1G>C	rs730882032
p.X214Trp

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