List of variants in gene VHL reported as pathogenic 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
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 54

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HGVS	dbSNP	gnomAD frequency
NM_000551.4(VHL):c.292T>C (p.Tyr98His)	rs5030809	0.00001
NM_000551.4(VHL):c.163dup (p.Glu55fs)	rs869025615
NM_000551.4(VHL):c.164_171dup (p.Arg60fs)	rs886041345
NM_000551.4(VHL):c.189_192del (p.Arg64_Ser65insTer)	rs869025647
NM_000551.4(VHL):c.191G>C (p.Arg64Pro)	rs104893826
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.208G>A (p.Glu70Lys)	rs5030802
NM_000551.4(VHL):c.208G>T (p.Glu70Ter)	rs5030802
NM_000551.4(VHL):c.217C>T (p.Gln73Ter)	rs869025619
NM_000551.4(VHL):c.221del (p.Val74fs)	rs869025620
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.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>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.262T>A (p.Trp88Arg)	rs1553619431
NM_000551.4(VHL):c.263G>A (p.Trp88Ter)	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.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.320G>C (p.Arg107Pro)	rs193922609
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+1G>A	rs730882032
NM_000551.4(VHL):c.340+2_340+6del	rs869025634
NM_000551.4(VHL):c.340G>C (p.Gly114Arg)	rs869025636

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