List of variants in gene combination LOC107303340, VHL reported as pathogenic by Ambry Genetics

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: 58

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HGVS	dbSNP	gnomAD frequency
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)	rs28940298	0.00010
NM_000551.4(VHL):c.376G>A (p.Asp126Asn)	rs104893831	0.00002
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)	rs5030820	0.00001
NM_000551.3(VHL):c.464_480del17
NM_000551.4(VHL):c.341-1G>A	rs1575927648
NM_000551.4(VHL):c.343C>T (p.His115Tyr)
NM_000551.4(VHL):c.344A>G (p.His115Arg)	rs5030812
NM_000551.4(VHL):c.351G>T (p.Trp117Cys)	rs727504215
NM_000551.4(VHL):c.353T>C (p.Leu118Pro)	rs5030830
NM_000551.4(VHL):c.353T>G (p.Leu118Arg)	rs5030830
NM_000551.4(VHL):c.355T>C (p.Phe119Leu)	rs1553619948
NM_000551.4(VHL):c.357C>G (p.Phe119Leu)	rs1559428077
NM_000551.4(VHL):c.358del (p.Arg120fs)	rs1131690956
NM_000551.4(VHL):c.363dup (p.Ala122fs)	rs1575927767
NM_000551.4(VHL):c.383T>C (p.Leu128Pro)	rs2125128327
NM_000551.4(VHL):c.388G>C (p.Val130Leu)	rs104893830
NM_000551.4(VHL):c.388del (p.Val130fs)	rs1553619957
NM_000551.4(VHL):c.390del (p.Asn131fs)
NM_000551.4(VHL):c.414A>G (p.Pro138=)	rs869025648
NM_000551.4(VHL):c.418_419insA (p.Leu140fs)	rs1131690955
NM_000551.4(VHL):c.422dup (p.Asn141fs)	rs1553619976
NM_000551.4(VHL):c.426del (p.Asp143fs)
NM_000551.4(VHL):c.445G>A (p.Ala149Thr)	rs587780077
NM_000551.4(VHL):c.445G>T (p.Ala149Ser)	rs587780077
NM_000551.4(VHL):c.452T>C (p.Ile151Thr)	rs869025655
NM_000551.4(VHL):c.461C>T (p.Pro154Leu)	rs1399097617
NM_000551.4(VHL):c.463+1G>A	rs869025657
NM_000551.4(VHL):c.463+1G>T	rs869025657
NM_000551.4(VHL):c.463+3A>G	rs1131690954
NM_000551.4(VHL):c.464-2A>G	rs5030816
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys)	rs397516441
NM_000551.4(VHL):c.472C>G (p.Leu158Val)	rs1559429613
NM_000551.4(VHL):c.473T>C (p.Leu158Pro)	rs121913346
NM_000551.4(VHL):c.481C>G (p.Arg161Gly)	rs5030818
NM_000551.4(VHL):c.481C>T (p.Arg161Ter)	rs5030818
NM_000551.4(VHL):c.482G>A (p.Arg161Gln)	rs730882035
NM_000551.4(VHL):c.482G>C (p.Arg161Pro)
NM_000551.4(VHL):c.483del (p.Cys162fs)	rs1696355438
NM_000551.4(VHL):c.486C>A (p.Cys162Ter)	rs5030622
NM_000551.4(VHL):c.486C>G (p.Cys162Trp)	rs5030622
NM_000551.4(VHL):c.490C>T (p.Gln164Ter)	rs5030819
NM_000551.4(VHL):c.491A>G (p.Gln164Arg)	rs267607170
NM_000551.4(VHL):c.496G>T (p.Val166Phe)	rs104893825
NM_000551.4(VHL):c.499C>G (p.Arg167Gly)	rs5030820
NM_000551.4(VHL):c.500G>A (p.Arg167Gln)	rs5030821
NM_000551.4(VHL):c.500G>C (p.Arg167Pro)	rs5030821
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs)	rs398123483
NM_000551.4(VHL):c.517G>T (p.Glu173Ter)	rs1575932228
NM_000551.4(VHL):c.524A>G (p.Tyr175Cys)	rs193922613
NM_000551.4(VHL):c.524_527del (p.Asn174_Tyr175insTer)
NM_000551.4(VHL):c.533T>C (p.Leu178Pro)	rs5030822
NM_000551.4(VHL):c.533T>G (p.Leu178Arg)	rs5030822
NM_000551.4(VHL):c.533_534del (p.Leu178fs)	rs1559429736
NM_000551.4(VHL):c.543dup (p.Arg182fs)	rs1131690958
NM_000551.4(VHL):c.548C>A (p.Ser183Ter)	rs5030823
NM_000551.4(VHL):c.555C>G (p.Tyr185Ter)	rs864622109
NM_000551.4(VHL):c.583C>T (p.Gln195Ter)	rs5030825
NM_000551.4(VHL):c.592_607del (p.Leu198fs)

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