List of variants in gene combination LOC107303340, VHL reported as likely pathogenic for Von Hippel-Lindau syndrome

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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: 40

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HGVS	dbSNP	gnomAD frequency
NM_000551.4(VHL):c.341-25_370dup	rs1553619923	0.00001
NM_000551.4(VHL):c.358A>G (p.Arg120Gly)	rs869025642
NM_000551.4(VHL):c.371C>T (p.Thr124Ile)	rs193922610
NM_000551.4(VHL):c.381_382delinsTT (p.Leu128Phe)	rs869025645
NM_000551.4(VHL):c.383T>C (p.Leu128Pro)	rs2125128327
NM_000551.4(VHL):c.392A>G (p.Asn131Ser)	rs1553619963
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.433_439del (p.Gln145fs)	rs1559428217
NM_000551.4(VHL):c.451A>G (p.Ile151Val)	rs876659313
NM_000551.4(VHL):c.458T>A (p.Leu153Gln)	rs193922611
NM_000551.4(VHL):c.463+2T>G	rs5030814
NM_000551.4(VHL):c.463+3A>G	rs1131690954
NM_000551.4(VHL):c.471dup (p.Leu158fs)	rs869025661
NM_000551.4(VHL):c.483del (p.Cys162fs)	rs1696355438
NM_000551.4(VHL):c.484del (p.Cys162fs)	rs1696355550
NM_000551.4(VHL):c.485G>A (p.Cys162Tyr)	rs397516444
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.492G>T (p.Gln164His)	rs1352275281
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.508G>C (p.Val170Leu)	rs1553620326
NM_000551.4(VHL):c.524A>G (p.Tyr175Cys)	rs193922613
NM_000551.4(VHL):c.547del (p.Ser183fs)	rs1559429778
NM_000551.4(VHL):c.551T>C (p.Leu184Pro)	rs1064793878
NM_000551.4(VHL):c.558_560del (p.Glu186del)	rs1559429813
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.589G>A (p.Asp197Asn)	rs1064794951
NM_000551.4(VHL):c.593T>C (p.Leu198Pro)	rs869025667
NM_000551.4(VHL):c.602T>C (p.Leu201Pro)	rs2125130793
NM_000551.4(VHL):c.640T>A (p.Ter214Arg)	rs1575932781
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

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