VHL — 814 ClinVar variants

Pathogenic 84

• p.Arg64Pro Expert panel von Hippel-Lindau disease
• p.Asn78Ser Expert panel von Hippel-Lindau disease ⚠
• p.Glu70Ter Expert panel von Hippel-Lindau disease
• p.Pro86Leu Expert panel von Hippel-Lindau disease
• p.Ser65Trp Expert panel von Hippel-Lindau disease
• p.Trp88Ter Expert panel von Hippel-Lindau disease
• c.340+1G>A Multiple submitters von Hippel-Lindau disease
• p.Arg107His Multiple submitters von Hippel-Lindau disease ⚠
• p.Arg113Ter Multiple submitters hereditary neoplastic syndrome
• p.Arg60fs Multiple submitters von Hippel-Lindau disease
• p.Arg69fs Multiple submitters Chuvash polycythemia
• p.Arg82Pro Multiple submitters von Hippel-Lindau disease
• p.Asn78Thr Multiple submitters von Hippel-Lindau disease
• p.Gln73Ter Multiple submitters von Hippel-Lindau disease
• p.Gln96Ter Multiple submitters von Hippel-Lindau disease
• p.Glu55fs Multiple submitters von Hippel-Lindau disease
• p.Glu94Ter Multiple submitters von Hippel-Lindau disease
• p.Gly114Arg Multiple submitters von Hippel-Lindau disease
• p.Gly93fs Multiple submitters hereditary neoplastic syndrome
• p.Gly93Ser Multiple submitters hereditary neoplastic syndrome
• p.Ser111Arg Multiple submitters von Hippel-Lindau disease
• p.Ser111Asn Multiple submitters von Hippel-Lindau disease
• p.Ser111Gly Multiple submitters von Hippel-Lindau disease
• p.Ser65fs Multiple submitters Chuvash polycythemia
• p.Ser65Leu Multiple submitters von Hippel-Lindau disease
• p.Ser65Ter Multiple submitters von Hippel-Lindau disease
• p.Ser68Ter Multiple submitters von Hippel-Lindau disease
• p.Trp88Arg Multiple submitters von Hippel-Lindau disease
• p.Tyr112Asn Multiple submitters Chuvash polycythemia
• p.Tyr112Ter Multiple submitters hereditary neoplastic syndrome
• p.Tyr98Cys Multiple submitters von Hippel-Lindau disease
• p.Tyr98His Multiple submitters von Hippel-Lindau disease
• p.Val62fs Multiple submitters von Hippel-Lindau disease
• p.Val84Leu Multiple submitters Chuvash polycythemia ⚠
• c.339_340+5del Single submitter von Hippel-Lindau disease
• c.340+1G>T Single submitter von Hippel-Lindau disease
• p.Ala122fs Single submitter hereditary neoplastic syndrome
• p.Arg107fs Single submitter Chuvash polycythemia
• p.Arg107Ser Single submitter Chuvash polycythemia ⚠
• p.Arg161Pro Single submitter hereditary neoplastic syndrome
• p.Arg182fs Single submitter hereditary neoplastic syndrome
• p.Arg82fs Single submitter Chuvash polycythemia
• p.Arg82Gly Single submitter Chuvash polycythemia
• p.Asn174_Tyr175insTer Single submitter hereditary neoplastic syndrome
• p.Asn78fs Single submitter von Hippel-Lindau disease
• p.Asn78His Single submitter von Hippel-Lindau disease
• p.Gln73fs Single submitter hereditary neoplastic syndrome
• p.Gln96_Pro103del Single submitter Chuvash polycythemia
• p.Glu160Ter Single submitter hereditary neoplastic syndrome
• p.Glu70fs Single submitter hereditary neoplastic syndrome
• p.Gly57fs Single submitter von Hippel-Lindau disease
• p.His110fs Single submitter Chuvash polycythemia
• p.Pro103fs Single submitter Chuvash polycythemia
• p.Pro61fs Single submitter hereditary neoplastic syndrome
• p.Pro71fs Single submitter Chuvash polycythemia
• p.Ser111Cys Single submitter Chuvash polycythemia
• p.Ser65Pro Single submitter von Hippel-Lindau disease
• p.Ser65Thr Single submitter von Hippel-Lindau disease
• p.Ser68Pro Single submitter von Hippel-Lindau disease
• p.Ser72fs Single submitter hereditary neoplastic syndrome
• p.Ser80fs Single submitter von Hippel-Lindau disease
• p.Thr100fs Single submitter von Hippel-Lindau disease
• p.Thr105fs Single submitter pheochromocytoma
• p.Thr105Pro Single submitter von Hippel-Lindau disease
• p.Trp88fs Single submitter hereditary neoplastic syndrome
• p.Tyr98_Leu101del Single submitter Chuvash polycythemia
• p.Tyr98Asn Single submitter von Hippel-Lindau disease
• p.Tyr98fs Single submitter von Hippel-Lindau disease
• p.Val130fs Single submitter hereditary neoplastic syndrome
• p.Val194fs Single submitter hereditary neoplastic syndrome
• p.Val83fs Single submitter hereditary neoplastic syndrome
• p.Val84fs Single submitter hereditary neoplastic syndrome
• p.Val84Glu Single submitter hereditary neoplastic syndrome
• p.Val87fs Single submitter Chuvash polycythemia
• c.340+2_340+6del No assertion criteria von Hippel-Lindau disease
• p.Arg64_Ser65insTer No assertion criteria von Hippel-Lindau disease
• p.Asn90fs No assertion criteria von Hippel-Lindau disease
• p.Gly104fs No assertion criteria von Hippel-Lindau disease
• p.Gly93Cys No assertion criteria von Hippel-Lindau disease
• p.Ile75del No assertion criteria von Hippel-Lindau disease
• p.Leu101fs No assertion criteria von Hippel-Lindau disease
• p.Trp88Ser No assertion criteria von Hippel-Lindau disease
• p.Tyr98Ter No assertion criteria von Hippel-Lindau disease
• p.Val74fs No assertion criteria von Hippel-Lindau disease

Pathogenic/Likely pathogenic 31

• c.340+1G>C Multiple submitters von Hippel-Lindau disease
• c.340+2T>G Multiple submitters Chuvash polycythemia
• p.Arg107Gly Multiple submitters pheochromocytoma
• p.Arg107Pro Multiple submitters von Hippel-Lindau disease
• p.Arg64fs Multiple submitters von Hippel-Lindau disease
• p.Arg82Leu Multiple submitters hereditary neoplastic syndrome
• p.Asn78Asp Multiple submitters von Hippel-Lindau disease ⚠
• p.Cys77Ter Multiple submitters von Hippel-Lindau disease
• p.Glu70Lys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gly114Ser Multiple submitters von Hippel-Lindau disease ⚠
• p.Gly93Arg Multiple submitters von Hippel-Lindau disease
• p.Gly93Asp Multiple submitters Chuvash polycythemia
• p.Gly93Val Multiple submitters von Hippel-Lindau disease
• p.His115Pro Multiple submitters hereditary neoplastic syndrome
• p.Ile75Ser Multiple submitters Chuvash polycythemia ⚠
• p.Leu89Pro Multiple submitters hereditary neoplastic syndrome
• p.Phe76del Multiple submitters hereditary neoplastic syndrome
• p.Phe76Tyr Multiple submitters hereditary neoplastic syndrome
• p.Pro81Leu Multiple submitters Inherited phaeochromocytoma and paraganglioma excluding NF1
• p.Pro86Ala Multiple submitters hereditary neoplastic syndrome
• p.Pro86Arg Multiple submitters von Hippel-Lindau disease
• p.Pro86Ser Multiple submitters von Hippel-Lindau disease
• p.Ser72Pro Multiple submitters von Hippel-Lindau disease
• p.Ser80Asn Multiple submitters hereditary neoplastic syndrome
• p.Ser80Gly Multiple submitters VHL-related disorder
• p.Ser80Ile Multiple submitters von Hippel-Lindau disease
• p.Tyr112Cys Multiple submitters hereditary neoplastic syndrome
• p.Tyr112His Multiple submitters VHL-related disorder ⚠
• p.Tyr112Ser Multiple submitters hereditary neoplastic syndrome
• p.Tyr98Ser Multiple submitters von Hippel-Lindau disease
• p.Val84Met Multiple submitters von Hippel-Lindau disease ⚠

Likely pathogenic 36

• p.Trp88Cys Expert panel von Hippel-Lindau disease
• c.335_340+5del Multiple submitters hereditary neoplastic syndrome
• c.-75_-55delCGCACGCAGCTCCGCCCCGCG Multiple submitters hereditary neoplastic syndrome
• p.Leu101Arg Multiple submitters hereditary neoplastic syndrome
• p.Leu101Pro Multiple submitters hereditary neoplastic syndrome
• p.Leu63Arg Multiple submitters Chuvash polycythemia
• p.Ser80Arg Multiple submitters von Hippel-Lindau disease
• c.340+1del Single submitter hereditary neoplastic syndrome
• c.340+2T>C Single submitter hereditary neoplastic syndrome
• c.-54_-44dup Single submitter von Hippel-Lindau disease
• c.-77_-32del Single submitter hereditary neoplastic syndrome
• c.-89_-51del Single submitter Chuvash polycythemia
• p.Arg64Ser Single submitter von Hippel-Lindau disease
• p.Asn78Ile Single submitter von Hippel-Lindau disease
• p.Asn78Tyr Single submitter hereditary neoplastic syndrome
• p.Asn90Ile Single submitter hereditary neoplastic syndrome
• p.Asp197fs Single submitter hereditary neoplastic syndrome
• p.Gln203fs Single submitter hereditary neoplastic syndrome
• p.Glu41fs Single submitter hereditary neoplastic syndrome
• p.Glu46fs Single submitter hereditary neoplastic syndrome
• p.Glu70Gln Single submitter Chuvash polycythemia ⚠
• p.Leu101Gln Single submitter hereditary neoplastic syndrome
• p.Met54Arg Single submitter von Hippel-Lindau disease ⚠
• p.Met54Ile Single submitter von Hippel-Lindau disease ⚠
• p.Phe119Leu Single submitter hereditary neoplastic syndrome
• p.Phe76Ile Single submitter hereditary neoplastic syndrome
• p.Phe76Val Single submitter Chuvash polycythemia
• p.Phe91fs Single submitter
• p.Trp88_Leu89insArg Single submitter hereditary neoplastic syndrome
• p.Tyr98_Pro99del Single submitter hereditary neoplastic syndrome
• p.Val74Phe Single submitter von Hippel-Lindau disease
• c.311_340+20del No assertion criteria von Hippel-Lindau disease
• p.Glu160Val No assertion criteria pheochromocytoma ⚠
• p.Phe76fs No assertion criteria von Hippel-Lindau disease
• p.Ser65Ala No assertion criteria von Hippel-Lindau disease
• p.Val170Ala No assertion criteria pheochromocytoma

Conflicting classifications of pathogenicity 135

• c.340+3A>G Single submitter hereditary neoplastic syndrome
• c.340+5G>A Single submitter hereditary neoplastic syndrome
• c.340+7del Single submitter Chuvash polycythemia
• c.-10C>G Single submitter von Hippel-Lindau disease
• c.-10C>T Single submitter Chuvash polycythemia
• c.-13G>C Single submitter von Hippel-Lindau disease
• c.-15T>C Single submitter von Hippel-Lindau disease
• c.-1A>G Single submitter hereditary neoplastic syndrome
• c.-1A>T Single submitter von Hippel-Lindau disease
• c.-35G>A Single submitter von Hippel-Lindau disease
• c.-44G>T Single submitter Chuvash polycythemia
• c.-45C>A Single submitter Chuvash polycythemia
• c.-47C>T Single submitter Chuvash polycythemia
• c.-48C>G Single submitter Chuvash polycythemia
• c.-5A>C Single submitter Chuvash polycythemia
• c.-61_-51dup Single submitter hereditary neoplastic syndrome
• c.-64C>T Single submitter hereditary neoplastic syndrome
• c.-73C>T Single submitter nonpapillary renal cell carcinoma
• p.38SGPEE[1] Single submitter von Hippel-Lindau disease
• p.38SGPEE[3] Single submitter von Hippel-Lindau disease
• p.Ala11Pro Single submitter von Hippel-Lindau disease ⚠
• p.Ala15Thr Single submitter von Hippel-Lindau disease ⚠
• p.Ala18Val Single submitter Chuvash polycythemia ⚠
• p.Ala35Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala50Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Ala50Pro Single submitter hereditary neoplastic syndrome ⚠
• p.Ala50Thr Single submitter von Hippel-Lindau disease ⚠
• p.Ala56Gly Single submitter Chuvash polycythemia ⚠
• p.Ala5fs Single submitter hereditary neoplastic syndrome ⚠
• p.Arg107= Single submitter hereditary neoplastic syndrome
• p.Arg108His Single submitter hereditary neoplastic syndrome ⚠
• p.Arg3Trp Single submitter Chuvash polycythemia ⚠
• p.Arg4Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Arg58Trp Single submitter Chuvash polycythemia ⚠
• p.Arg60Gly Single submitter von Hippel-Lindau disease ⚠
• p.Arg64His Single submitter Chuvash polycythemia ⚠
• p.Arg69Gly Single submitter Chuvash polycythemia ⚠
• p.Arg79Gly Single submitter von Hippel-Lindau disease ⚠
• p.Arg79Pro Single submitter hereditary neoplastic syndrome ⚠
• p.Arg82His Single submitter von Hippel-Lindau disease ⚠
• p.Asn67His Single submitter Chuvash polycythemia ⚠
• p.Asn67Lys Single submitter Chuvash polycythemia ⚠
• p.Asn7Ile Single submitter Chuvash polycythemia ⚠
• p.Asn7Lys Single submitter von Hippel-Lindau disease ⚠
• p.Asn7Ser Single submitter Chuvash polycythemia ⚠
• p.Asn90Ser Single submitter von Hippel-Lindau disease ⚠
• p.Asp28Asn Single submitter von Hippel-Lindau disease ⚠
• p.Asp28Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Asp92Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Asp92Tyr Single submitter Chuvash polycythemia ⚠
• p.Asp92Val Single submitter VHL-related disorder ⚠
• p.Asp9Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Asp9Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Asp9Glu Single submitter von Hippel-Lindau disease ⚠
• p.Asp9Val Single submitter hereditary neoplastic syndrome ⚠
• p.Gln73Glu Single submitter von Hippel-Lindau disease ⚠
• p.Gln96Pro Single submitter hereditary neoplastic syndrome ⚠
• p.Glu10Lys Single submitter Chuvash polycythemia ⚠
• p.Glu31Asp Single submitter Chuvash polycythemia ⚠
• p.Glu37Asp Single submitter von Hippel-Lindau disease ⚠
• p.Glu37Ter Single submitter Chuvash polycythemia ⚠
• p.Glu42Gly Single submitter von Hippel-Lindau disease ⚠
• p.Glu51Gln Single submitter hereditary neoplastic syndrome ⚠
• p.Glu53Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Glu55Gly Single submitter Chuvash polycythemia ⚠
• p.Glu6Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Glu6Gln Single submitter hereditary neoplastic syndrome ⚠
• p.Glu70Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Glu94Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Gly104= Single submitter VHL-related disorder
• p.Gly104Arg Single submitter pheochromocytoma ⚠
• p.Gly104Val Single submitter von Hippel-Lindau disease ⚠
• p.Gly24Ser Single submitter Chuvash polycythemia ⚠
• p.Gly30Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Gly39Arg Single submitter von Hippel-Lindau disease ⚠
• p.Gly44Ala Single submitter von Hippel-Lindau disease ⚠
• p.Gly44Arg Single submitter Chuvash polycythemia ⚠
• p.Gly44Asp Single submitter Chuvash polycythemia ⚠
• p.Gly44Val Single submitter hereditary neoplastic syndrome ⚠
• p.Gly49Arg Single submitter von Hippel-Lindau disease ⚠
• p.Gly57Trp Single submitter Chuvash polycythemia ⚠
• p.His110Gln Single submitter Chuvash polycythemia ⚠
• p.Ile109Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Ile109Met Single submitter hereditary neoplastic syndrome ⚠
• p.Ile147Phe Single submitter VHL-related disorder ⚠
• p.Ile75Leu Single submitter Chuvash polycythemia ⚠
• p.Ile75Met Single submitter Chuvash polycythemia ⚠
• p.Leu48Gln Single submitter hereditary neoplastic syndrome ⚠
• p.Leu63Gln Single submitter von Hippel-Lindau disease ⚠
• p.Leu85Val Single submitter hereditary neoplastic syndrome ⚠
• p.Leu89Phe Single submitter hereditary neoplastic syndrome ⚠
• p.Met1Ile Single submitter Chuvash polycythemia ⚠
• p.Met1Leu Single submitter von Hippel-Lindau disease ⚠
• p.Met1Val Single submitter Chuvash polycythemia ⚠
• p.Met54Leu Single submitter Chuvash polycythemia ⚠
• p.Phe76Ser Single submitter von Hippel-Lindau disease ⚠
• p.Pro102Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Pro103Ala Single submitter von Hippel-Lindau disease ⚠
• p.Pro103Leu Single submitter Chuvash polycythemia ⚠
• p.Pro2Leu Single submitter Chuvash polycythemia ⚠
• p.Pro40Gln Single submitter Chuvash polycythemia ⚠
• p.Pro40Thr Single submitter von Hippel-Lindau disease ⚠
• p.Pro45Ala Single submitter Chuvash polycythemia ⚠
• p.Pro45Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Pro45Leu Single submitter von Hippel-Lindau disease ⚠
• p.Pro59Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Pro59Ser Single submitter von Hippel-Lindau disease ⚠
• p.Pro61Ala Single submitter pheochromocytoma ⚠
• p.Pro81Gln Single submitter Chuvash polycythemia ⚠
• p.Pro81Thr Single submitter von Hippel-Lindau disease
• p.Pro97Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Pro97Thr Single submitter von Hippel-Lindau disease ⚠
• p.Pro99Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Pro99Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Pro99Thr Single submitter Chuvash polycythemia ⚠
• p.Ser33Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Ser68Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Ser72= Single submitter hereditary neoplastic syndrome
• p.Thr100Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Thr100Met Single submitter Chuvash polycythemia ⚠
• p.Thr105Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Trp88Gly Single submitter Chuvash polycythemia ⚠
• p.Trp8Arg Single submitter von Hippel-Lindau disease ⚠
• p.Trp8Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Tyr23Asp Single submitter von Hippel-Lindau disease ⚠
• p.Val13Ala Single submitter von Hippel-Lindau disease ⚠
• p.Val13Gly Single submitter von Hippel-Lindau disease ⚠
• p.Val13Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Val13Leu Single submitter Chuvash polycythemia ⚠
• p.Val20Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Val20Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Val62Met Single submitter Chuvash polycythemia ⚠
• p.Val74Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Val74Asp Single submitter von Hippel-Lindau disease ⚠
• p.Val87Ile Single submitter Chuvash polycythemia ⚠

Benign 20

• p.Arg82= Expert panel von Hippel-Lindau disease
• p.Glu52Lys Expert panel von Hippel-Lindau disease ⚠
• p.Pro25Leu Expert panel von Hippel-Lindau disease
• p.Pro40Leu Expert panel von Hippel-Lindau disease
• p.Pro61= Expert panel von Hippel-Lindau disease
• p.Pro81Ser Expert panel von Hippel-Lindau disease ⚠
• c.341-37G>A Multiple submitters
• c.-195G>A Multiple submitters hereditary neoplastic syndrome
• c.-258C>T Multiple submitters hereditary neoplastic syndrome
• c.-530G>C Multiple submitters hereditary neoplastic syndrome
• c.340+7_340+24dup Single submitter von Hippel-Lindau disease
• c.341-323G>T Single submitter hereditary neoplastic syndrome
• c.-26C>G Single submitter
• p.Asp92His Single submitter hereditary neoplastic syndrome
• p.Glu32= Single submitter hereditary neoplastic syndrome
• p.Glu46Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Glu53Lys Single submitter hereditary neoplastic syndrome ⚠
• p.His125Asn Single submitter hereditary neoplastic syndrome
• p.Pro40= Single submitter von Hippel-Lindau disease
• p.Val62= Single submitter von Hippel-Lindau disease

Benign/Likely benign 45

• c.340+10C>T Multiple submitters von Hippel-Lindau disease
• c.340+5G>C Multiple submitters von Hippel-Lindau disease
• c.-11T>C Multiple submitters von Hippel-Lindau disease
• c.-77C>T Multiple submitters von Hippel-Lindau disease
• p.Ala50= Multiple submitters von Hippel-Lindau disease
• p.Arg108= Multiple submitters Chuvash polycythemia
• p.Arg64= Multiple submitters hereditary neoplastic syndrome
• p.Arg69= Multiple submitters Chuvash polycythemia
• p.Arg79= Multiple submitters Chuvash polycythemia
• p.Asn67= Multiple submitters hereditary neoplastic syndrome
• p.Asn7= Multiple submitters Chuvash polycythemia
• p.Asp9= Multiple submitters von Hippel-Lindau disease
• p.Asp92= Multiple submitters hereditary neoplastic syndrome
• p.Glu10= Multiple submitters Chuvash polycythemia
• p.Glu16= Multiple submitters Chuvash polycythemia
• p.Glu22= Multiple submitters Chuvash polycythemia
• p.Glu36= Multiple submitters von Hippel-Lindau disease
• p.Glu37= Multiple submitters hereditary neoplastic syndrome
• p.Glu41= Multiple submitters von Hippel-Lindau disease
• p.Glu47= Multiple submitters Chuvash polycythemia
• p.Glu55= Multiple submitters Chuvash polycythemia
• p.Gly24= Multiple submitters Chuvash polycythemia
• p.His110= Multiple submitters hereditary neoplastic syndrome
• p.Ile75= Multiple submitters von Hippel-Lindau disease
• p.Leu101= Multiple submitters Chuvash polycythemia
• p.Phe76= Multiple submitters hereditary neoplastic syndrome
• p.Phe91= Multiple submitters Chuvash polycythemia
• p.Pro102= Multiple submitters von Hippel-Lindau disease
• p.Pro103= Multiple submitters hereditary neoplastic syndrome
• p.Pro25= Multiple submitters von Hippel-Lindau disease
• p.Pro59= Multiple submitters Chuvash polycythemia
• p.Pro71= Multiple submitters Chuvash polycythemia
• p.Pro81= Multiple submitters Chuvash polycythemia
• p.Pro86= Multiple submitters von Hippel-Lindau disease
• p.Pro95= Multiple submitters Chuvash polycythemia
• p.Pro97= Multiple submitters hereditary neoplastic syndrome
• p.Pro99= Multiple submitters von Hippel-Lindau disease
• p.Ser38= Multiple submitters hereditary neoplastic syndrome
• p.Ser65= Multiple submitters Chuvash polycythemia
• p.Ser80= Multiple submitters Chuvash polycythemia
• p.Tyr112= Multiple submitters von Hippel-Lindau disease
• p.Tyr23= Multiple submitters Chuvash polycythemia
• p.Tyr98= Multiple submitters Chuvash polycythemia
• p.Val74= Multiple submitters Chuvash polycythemia
• p.Val87= Multiple submitters von Hippel-Lindau disease

Likely benign 103

• p.Gly30Glu Expert panel von Hippel-Lindau disease
• c.340+10C>A Multiple submitters von Hippel-Lindau disease
• c.340+10C>G Multiple submitters von Hippel-Lindau disease
• c.340+11G>A Multiple submitters von Hippel-Lindau disease
• c.340+20G>A Multiple submitters von Hippel-Lindau disease
• c.340+7G>C Multiple submitters von Hippel-Lindau disease
• c.340+7G>T Multiple submitters von Hippel-Lindau disease
• c.340+8C>A Multiple submitters Chuvash polycythemia
• c.340+8C>T Multiple submitters von Hippel-Lindau disease
• c.340+9C>T Multiple submitters von Hippel-Lindau disease
• c.-16C>T Multiple submitters
• p.Ala11= Multiple submitters von Hippel-Lindau disease
• p.Ala35= Multiple submitters hereditary neoplastic syndrome
• p.Ala5= Multiple submitters Chuvash polycythemia
• p.Arg4= Multiple submitters Chuvash polycythemia
• p.Arg60= Multiple submitters Chuvash polycythemia
• p.Asn90= Multiple submitters Chuvash polycythemia
• p.Gln96= Multiple submitters hereditary neoplastic syndrome
• p.Glu21= Multiple submitters von Hippel-Lindau disease
• p.Glu52= Multiple submitters hereditary neoplastic syndrome
• p.Gly106= Multiple submitters hereditary neoplastic syndrome
• p.Gly29= Multiple submitters Chuvash polycythemia
• p.Gly34= Multiple submitters hereditary neoplastic syndrome
• p.Ile109= Multiple submitters Chuvash polycythemia
• p.Leu63= Multiple submitters Chuvash polycythemia
• p.Leu89= Multiple submitters Chuvash polycythemia
• p.Ser33= Multiple submitters hereditary neoplastic syndrome
• p.Thr105= Multiple submitters von Hippel-Lindau disease
• p.Val13= Multiple submitters hereditary neoplastic syndrome
• p.Val20= Multiple submitters hereditary neoplastic syndrome
• p.Val83= Multiple submitters Chuvash polycythemia
• p.Val84= Multiple submitters Chuvash polycythemia
• c.340+10del Single submitter Chuvash polycythemia
• c.340+11G>T Single submitter von Hippel-Lindau disease
• c.340+14G>C Single submitter Chuvash polycythemia
• c.340+14G>T Single submitter
• c.340+15C>T Single submitter von Hippel-Lindau disease
• c.340+16T>G Single submitter Chuvash polycythemia
• c.340+20G>T Single submitter Chuvash polycythemia
• c.340+5_340+17dup Single submitter Chuvash polycythemia
• c.340+9C>G Single submitter von Hippel-Lindau disease
• c.-13G>T Single submitter
• c.-23G>C Single submitter
• c.-25C>A Single submitter
• c.-29C>A Single submitter
• c.-31T>C Single submitter
• c.-36C>G Single submitter
• c.-36C>T Single submitter
• c.-38C>T Single submitter
• c.-40C>T Single submitter
• c.-47C>G Single submitter
• c.-70G>A Single submitter von Hippel-Lindau disease
• p.Ala15= Single submitter Chuvash polycythemia
• p.Ala18= Single submitter hereditary neoplastic syndrome
• p.Ala18Gly Single submitter hereditary neoplastic syndrome
• p.Ala18Ser Single submitter hereditary neoplastic syndrome
• p.Ala56= Single submitter Chuvash polycythemia
• p.Arg113Gln Single submitter hereditary neoplastic syndrome
• p.Arg182= Single submitter hereditary neoplastic syndrome
• p.Arg3= Single submitter von Hippel-Lindau disease
• p.Arg58= Single submitter Chuvash polycythemia
• p.Arg69His Single submitter hereditary neoplastic syndrome ⚠
• p.Cys77= Single submitter hereditary neoplastic syndrome
• p.Glu12= Single submitter hereditary neoplastic syndrome
• p.Glu31= Single submitter von Hippel-Lindau disease
• p.Glu53= Single submitter Chuvash polycythemia
• p.Glu6= Single submitter Chuvash polycythemia
• p.Glu6Lys Single submitter hereditary neoplastic syndrome
• p.Glu70= Single submitter Chuvash polycythemia
• p.Glu94= Single submitter von Hippel-Lindau disease
• p.Gly14= Single submitter hereditary neoplastic syndrome
• p.Gly19= Single submitter von Hippel-Lindau disease
• p.Gly30= Single submitter Chuvash polycythemia
• p.Gly39= Single submitter hereditary neoplastic syndrome
• p.Gly44= Single submitter von Hippel-Lindau disease
• p.Gly49= Single submitter hereditary neoplastic syndrome
• p.Gly57= Single submitter Chuvash polycythemia
• p.Ile109Thr Single submitter hereditary neoplastic syndrome
• p.Leu116Ile Single submitter hereditary neoplastic syndrome
• p.Leu118Val Single submitter hereditary neoplastic syndrome
• p.Leu48= Single submitter von Hippel-Lindau disease
• p.Leu85= Single submitter hereditary neoplastic syndrome
• p.Lys171= Single submitter hereditary neoplastic syndrome
• p.Met211Arg Single submitter hereditary neoplastic syndrome
• p.Phe91Val Single submitter von Hippel-Lindau disease
• p.Pro2= Single submitter hereditary neoplastic syndrome
• p.Pro45= Single submitter Chuvash polycythemia
• p.Pro97Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Ser111= Single submitter Chuvash polycythemia
• p.Ser43= Single submitter Chuvash polycythemia
• p.Ser68= Single submitter von Hippel-Lindau disease
• p.Thr100= Single submitter Chuvash polycythemia
• p.Thr105Arg Single submitter hereditary neoplastic syndrome
• p.Val62_Leu63= Single submitter Chuvash polycythemia
• p.Val66= Single submitter von Hippel-Lindau disease
• p.Val66Ala Single submitter hereditary neoplastic syndrome
• p.Val66Glu Single submitter hereditary neoplastic syndrome
• p.Val66Met Single submitter hereditary neoplastic syndrome
• c.341-1133C>T No assertion criteria hereditary neoplastic syndrome
• c.341-1135T>C No assertion criteria hereditary neoplastic syndrome
• c.341-1173C>T No assertion criteria hereditary neoplastic syndrome
• c.-28G>C No assertion criteria VHL-related disorder
• c.-78G>C No assertion criteria VHL-related disorder

Uncertain significance 360

Showing the top 300 by review status; the full set is in the sitemap.

• p.Phe91Leu Expert panel von Hippel-Lindau disease ⚠
• c.340+4C>T Multiple submitters hereditary neoplastic syndrome
• c.-188G>A Multiple submitters von Hippel-Lindau disease
• c.-207C>T Multiple submitters von Hippel-Lindau disease
• c.-2G>A Multiple submitters hereditary neoplastic syndrome
• c.-39_-10del Multiple submitters von Hippel-Lindau disease
• c.-4G>C Multiple submitters hereditary neoplastic syndrome
• c.-50_-28del Multiple submitters Chuvash polycythemia
• c.-50_-28dup Multiple submitters Chuvash polycythemia
• c.-54_-35del Multiple submitters von Hippel-Lindau disease
• c.-54_-35dup Multiple submitters von Hippel-Lindau disease
• c.-55del Multiple submitters von Hippel-Lindau disease
• c.-7G>C Multiple submitters von Hippel-Lindau disease
• p.38_42SGPEE[3] Multiple submitters von Hippel-Lindau disease
• p.Ala11fs Multiple submitters hereditary neoplastic syndrome
• p.Ala11Ser Multiple submitters Chuvash polycythemia ⚠
• p.Ala15fs Multiple submitters hereditary neoplastic syndrome
• p.Ala15Val Multiple submitters von Hippel-Lindau disease ⚠
• p.Ala35_Gly39dup Multiple submitters hereditary neoplastic syndrome
• p.Ala35Asp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala35Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala50Val Multiple submitters Chuvash polycythemia ⚠
• p.Ala56Thr Multiple submitters Chuvash polycythemia ⚠
• p.Ala56Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala5Pro Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala5Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala5Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala5Val Multiple submitters von Hippel-Lindau disease ⚠
• p.Arg113Pro Multiple submitters von Hippel-Lindau disease ⚠
• p.Arg3_Arg4insIleAlaGluGlyMetProArg Multiple submitters hereditary neoplastic syndrome
• p.Arg3Gln Multiple submitters Chuvash polycythemia ⚠
• p.Arg3Gly Multiple submitters Chuvash polycythemia ⚠
• p.Arg3Pro Multiple submitters Chuvash polycythemia ⚠
• p.Arg4fs Multiple submitters von Hippel-Lindau disease
• p.Arg4Gly Multiple submitters von Hippel-Lindau disease ⚠
• p.Arg4Leu Multiple submitters von Hippel-Lindau disease
• p.Arg4Met Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg58Gln Multiple submitters Chuvash polycythemia ⚠
• p.Arg60Pro Multiple submitters von Hippel-Lindau disease ⚠
• p.Arg69Leu Multiple submitters von Hippel-Lindau disease ⚠
• p.Arg79Cys Multiple submitters VHL-related disorder ⚠
• p.Arg79Leu Multiple submitters von Hippel-Lindau disease ⚠
• p.Arg82Cys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn67Ser Multiple submitters Chuvash polycythemia ⚠
• p.Asp9His Multiple submitters hereditary neoplastic syndrome ⚠
• p.Cys77Arg Multiple submitters von Hippel-Lindau disease ⚠
• p.Cys77Phe Multiple submitters hereditary neoplastic syndrome ⚠
• p.Cys77Ser Multiple submitters Chuvash polycythemia ⚠
• p.Gln73Arg Multiple submitters Chuvash polycythemia
• p.Gln73His Multiple submitters Chuvash polycythemia
• p.Glu10Ala Multiple submitters von Hippel-Lindau disease ⚠
• p.Glu10Asp Multiple submitters von Hippel-Lindau disease ⚠
• p.Glu10Gln Multiple submitters von Hippel-Lindau disease ⚠
• p.Glu10Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Glu10Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu10Val Multiple submitters von Hippel-Lindau disease ⚠
• p.Glu12Asp Multiple submitters Chuvash polycythemia ⚠
• p.Glu12Gln Multiple submitters Chuvash polycythemia ⚠
• p.Glu12Gly Multiple submitters Chuvash polycythemia ⚠
• p.Glu12Leu Multiple submitters Chuvash polycythemia
• p.Glu12Ter Multiple submitters von Hippel-Lindau disease
• p.Glu16Ala Multiple submitters von Hippel-Lindau disease ⚠
• p.Glu16Asp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Glu16Gln Multiple submitters von Hippel-Lindau disease ⚠
• p.Glu16Lys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Glu16Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu16Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Glu17Asp Multiple submitters Chuvash polycythemia ⚠
• p.Glu17Ter Multiple submitters Chuvash polycythemia
• p.Glu21Ala Multiple submitters Chuvash polycythemia ⚠
• p.Glu21Gln Multiple submitters hereditary neoplastic syndrome ⚠
• p.Glu21Lys Multiple submitters Chuvash polycythemia ⚠
• p.Glu22Gly Multiple submitters von Hippel-Lindau disease ⚠
• p.Glu26Gln Multiple submitters von Hippel-Lindau disease ⚠
• p.Glu27Ala Multiple submitters von Hippel-Lindau disease ⚠
• p.Glu27Asp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Glu27Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Glu31fs Multiple submitters hereditary neoplastic syndrome
• p.Glu31Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Glu31Ter Multiple submitters von Hippel-Lindau disease
• p.Glu32Gly Multiple submitters von Hippel-Lindau disease ⚠
• p.Glu36Ter Multiple submitters Chuvash polycythemia
• p.Glu37Lys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Glu41Lys Multiple submitters von Hippel-Lindau disease ⚠
• p.Glu42Ala Multiple submitters Chuvash polycythemia ⚠
• p.Glu42Asp Multiple submitters Chuvash polycythemia ⚠
• p.Glu42Lys Multiple submitters von Hippel-Lindau disease ⚠
• p.Glu47Lys Multiple submitters von Hippel-Lindau disease ⚠
• p.Glu47Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu51Lys Multiple submitters Chuvash polycythemia ⚠
• p.Glu51Ter Multiple submitters Chuvash polycythemia
• p.Glu52Ter Multiple submitters Chuvash polycythemia
• p.Glu53del Multiple submitters Chuvash polycythemia
• p.Glu55Val Multiple submitters Chuvash polycythemia ⚠
• p.Glu6Ter Multiple submitters Chuvash polycythemia
• p.Glu70Asp Multiple submitters Chuvash polycythemia
• p.Glu94Lys Multiple submitters Chuvash polycythemia ⚠
• p.Gly104Asp Multiple submitters von Hippel-Lindau disease ⚠
• p.Gly14Arg Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gly14Asp Multiple submitters Chuvash polycythemia ⚠
• p.Gly14Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gly19_Val20insAlaGluGluAlaGly Multiple submitters von Hippel-Lindau disease
• p.Gly24Arg Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gly24Asp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gly24Cys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gly29Arg Multiple submitters Chuvash polycythemia ⚠
• p.Gly29Asp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gly29Cys Multiple submitters von Hippel-Lindau disease ⚠
• p.Gly29Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gly29Val Multiple submitters Chuvash polycythemia
• p.Gly30Ala Multiple submitters von Hippel-Lindau disease ⚠
• p.Gly30Trp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gly34Ser Multiple submitters Chuvash polycythemia ⚠
• p.Gly39Asp Multiple submitters von Hippel-Lindau disease ⚠
• p.Gly39Ser Multiple submitters von Hippel-Lindau disease ⚠
• p.Gly39Val Multiple submitters Chuvash polycythemia ⚠
• p.Gly44Cys Multiple submitters von Hippel-Lindau disease ⚠
• p.Gly49Asp Multiple submitters von Hippel-Lindau disease ⚠
• p.Gly57Ala Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gly93= Multiple submitters hereditary neoplastic syndrome
• p.Ile75Val Multiple submitters Chuvash polycythemia
• p.Leu63Pro Multiple submitters Chuvash polycythemia ⚠
• p.Met1fs Multiple submitters hereditary neoplastic syndrome
• p.Phe76Cys Multiple submitters Chuvash polycythemia ⚠
• p.Phe76Leu Multiple submitters von Hippel-Lindau disease ⚠
• p.Pro102Leu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Pro25Ala Multiple submitters hereditary neoplastic syndrome ⚠
• p.Pro25Arg Multiple submitters hereditary neoplastic syndrome ⚠
• p.Pro2Ala Multiple submitters Chuvash polycythemia ⚠
• p.Pro2Arg Multiple submitters hereditary neoplastic syndrome ⚠
• p.Pro2His Multiple submitters hereditary neoplastic syndrome ⚠
• p.Pro2Phe Multiple submitters Chuvash polycythemia
• p.Pro2Ser Multiple submitters Chuvash polycythemia ⚠
• p.Pro40Ala Multiple submitters hereditary neoplastic syndrome ⚠
• p.Pro40Arg Multiple submitters Chuvash polycythemia ⚠
• p.Pro40Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Pro59Gln Multiple submitters von Hippel-Lindau disease ⚠
• p.Pro61_Val62insArgPro Multiple submitters von Hippel-Lindau disease
• p.Pro61Leu Multiple submitters pheochromocytoma ⚠
• p.Pro61Ser Multiple submitters Chuvash polycythemia
• p.Pro71Ser Multiple submitters Chuvash polycythemia ⚠
• p.Pro95Leu Multiple submitters Chuvash polycythemia ⚠
• p.Pro97Leu Multiple submitters Chuvash polycythemia ⚠
• p.Ser33fs Multiple submitters von Hippel-Lindau disease
• p.Ser33Leu Multiple submitters von Hippel-Lindau disease ⚠
• p.Ser33Ter Multiple submitters hereditary neoplastic syndrome
• p.Ser33Thr Multiple submitters von Hippel-Lindau disease ⚠
• p.Ser38_Glu52del Multiple submitters hereditary neoplastic syndrome
• p.Ser38_Glu52dup Multiple submitters Chuvash polycythemia
• p.Ser38Phe Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ser43Pro Multiple submitters Chuvash polycythemia ⚠
• p.Ser72Phe Multiple submitters Chuvash polycythemia ⚠
• p.Thr105Met Multiple submitters hereditary neoplastic syndrome ⚠
• p.Trp8Ter Multiple submitters hereditary neoplastic syndrome
• p.Tyr23Ter Multiple submitters Chuvash polycythemia
• p.Val20Asp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Val20fs Multiple submitters Chuvash polycythemia
• p.Val62Ala Multiple submitters hereditary neoplastic syndrome ⚠
• p.Val83Leu Multiple submitters Chuvash polycythemia
• p.Val84Ala Multiple submitters nonpapillary renal cell carcinoma ⚠
• c.340+4C>A Single submitter
• c.340+4C>G Single submitter von Hippel-Lindau disease
• c.340+6G>A Single submitter von Hippel-Lindau disease
• c.340+6G>T Single submitter Chuvash polycythemia
• c.341-62G>T Single submitter hereditary neoplastic syndrome
• c.-10C>A Single submitter
• c.-110C>G Single submitter
• c.-118C>T Single submitter von Hippel-Lindau disease
• c.-12_-4dup Single submitter
• c.-122T>C Single submitter
• c.-166C>T Single submitter von Hippel-Lindau disease
• c.-179G>A Single submitter von Hippel-Lindau disease
• c.-19G>T Single submitter von Hippel-Lindau disease
• c.-26C>T Single submitter von Hippel-Lindau disease
• c.-2G>T Single submitter hereditary neoplastic syndrome
• c.-30C>T Single submitter von Hippel-Lindau disease
• c.-3G>A Single submitter hereditary neoplastic syndrome
• c.-3G>C Single submitter hereditary neoplastic syndrome
• c.-3G>T Single submitter hereditary neoplastic syndrome
• c.-44G>A Single submitter Chuvash polycythemia
• c.-45C>T Single submitter Chuvash polycythemia
• c.-46_-45delinsAA Single submitter Chuvash polycythemia
• c.-46G>A Single submitter Chuvash polycythemia
• c.-47C>A Single submitter Chuvash polycythemia
• c.-48C>T Single submitter Chuvash polycythemia
• c.-49C>A Single submitter Chuvash polycythemia
• c.-49C>G Single submitter Chuvash polycythemia
• c.-49C>T Single submitter Chuvash polycythemia
• c.-4delinsAT Single submitter hereditary neoplastic syndrome
• c.-4G>A Single submitter hereditary neoplastic syndrome
• c.-50A>C Single submitter Chuvash polycythemia
• c.-51G>A Single submitter Chuvash polycythemia
• c.-51G>T Single submitter Chuvash polycythemia
• c.-52C>A Single submitter Chuvash polycythemia
• c.-54T>A Single submitter Chuvash polycythemia
• c.-55G>C Single submitter Chuvash polycythemia
• c.-55G>T Single submitter Chuvash polycythemia
• c.-56C>T Single submitter Chuvash polycythemia
• c.-57G>A Single submitter Chuvash polycythemia
• c.-58C>T Single submitter Chuvash polycythemia
• c.-58del Single submitter Chuvash polycythemia
• c.-59C>A Single submitter Chuvash polycythemia
• c.-59C>T Single submitter Chuvash polycythemia
• c.-5dup Single submitter von Hippel-Lindau disease
• c.-61_-51del Single submitter Chuvash polycythemia
• c.-62_-43del Single submitter
• c.-66C>G Single submitter von Hippel-Lindau disease
• c.-69C>A Single submitter von Hippel-Lindau disease
• p.Ala11Gly Single submitter pheochromocytoma ⚠
• p.Ala11Thr Single submitter ⚠
• p.Ala18fs Single submitter Chuvash polycythemia
• p.Ala35_Gly39del Single submitter hereditary neoplastic syndrome
• p.Ala35_Gly44dup Single submitter Chuvash polycythemia
• p.Ala35Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Ala56Asp Single submitter von Hippel-Lindau disease ⚠
• p.Ala5Glu Single submitter Chuvash polycythemia ⚠
• p.Ala5Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Arg107Cys Single submitter ⚠
• p.Arg108del Single submitter von Hippel-Lindau disease
• p.Arg108Gly Single submitter von Hippel-Lindau disease ⚠
• p.Arg108Leu Single submitter Chuvash polycythemia ⚠
• p.Arg113= Single submitter Chuvash polycythemia
• p.Arg113Gly Single submitter Chuvash polycythemia ⚠
• p.Arg3fs Single submitter hereditary neoplastic syndrome
• p.Arg4Trp Single submitter von Hippel-Lindau disease ⚠
• p.Arg60Leu Single submitter von Hippel-Lindau disease ⚠
• p.Arg60Trp Single submitter Chuvash polycythemia ⚠
• p.Arg64Cys Single submitter hereditary neoplastic syndrome ⚠
• p.Arg64Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Arg69Cys Single submitter Chuvash polycythemia ⚠
• p.Arg69Ser Single submitter ⚠
• p.Arg79His Single submitter Chuvash polycythemia ⚠
• p.Arg79Ser Single submitter Chuvash polycythemia ⚠
• p.Asn67Asp Single submitter Chuvash polycythemia ⚠
• p.Asn67Thr Single submitter Chuvash polycythemia ⚠
• p.Asn7Thr Single submitter Chuvash polycythemia ⚠
• p.Asn90Asp Single submitter Chuvash polycythemia ⚠
• p.Asn90Lys Single submitter von Hippel-Lindau disease ⚠
• p.Asn90Thr Single submitter von Hippel-Lindau disease ⚠
• p.Asn90Tyr Single submitter ⚠
• p.Asp28_Glu42del Single submitter von Hippel-Lindau disease
• p.Asp28_Ser33dup Single submitter Chuvash polycythemia
• p.Asp28Glu Single submitter ⚠
• p.Asp28His Single submitter Chuvash polycythemia ⚠
• p.Asp28Val Single submitter Chuvash polycythemia ⚠
• p.Asp92Ala Single submitter Chuvash polycythemia ⚠
• p.Asp92Glu Single submitter von Hippel-Lindau disease ⚠
• p.Asp9Gly Single submitter Chuvash polycythemia ⚠
• p.Cys77Tyr Single submitter Chuvash polycythemia ⚠
• p.Gln73Leu Single submitter Chuvash polycythemia
• p.Gln73Pro Single submitter Chuvash polycythemia ⚠
• p.Gln96His Single submitter von Hippel-Lindau disease
• p.Gln96Thr Single submitter von Hippel-Lindau disease
• p.Glu12fs Single submitter
• p.Glu12Val Single submitter von Hippel-Lindau disease ⚠
• p.Glu16fs Single submitter Chuvash polycythemia
• p.Glu17Lys Single submitter von Hippel-Lindau disease ⚠
• p.Glu21Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Glu21Val Single submitter von Hippel-Lindau disease ⚠
• p.Glu22Lys Single submitter von Hippel-Lindau disease ⚠
• p.Glu22Val Single submitter hereditary neoplastic syndrome ⚠
• p.Glu26Gly Single submitter Chuvash polycythemia ⚠
• p.Glu26Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Glu31Lys Single submitter Chuvash polycythemia ⚠
• p.Glu32Gln Single submitter hereditary neoplastic syndrome ⚠
• p.Glu32Lys Single submitter Chuvash polycythemia ⚠
• p.Glu32Val Single submitter Chuvash polycythemia ⚠
• p.Glu36fs Single submitter von Hippel-Lindau disease
• p.Glu36Gln Single submitter Chuvash polycythemia ⚠
• p.Glu36Lys Single submitter Chuvash polycythemia ⚠
• p.Glu41Ala Single submitter Chuvash polycythemia ⚠
• p.Glu41Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Glu41Gly Single submitter von Hippel-Lindau disease ⚠
• p.Glu41Val Single submitter Chuvash polycythemia ⚠
• p.Glu42Gln Single submitter von Hippel-Lindau disease ⚠
• p.Glu46Ala Single submitter von Hippel-Lindau disease ⚠
• p.Glu46Asp Single submitter von Hippel-Lindau disease ⚠
• p.Glu47Gln Single submitter Chuvash polycythemia ⚠
• p.Glu53Asp Single submitter Chuvash polycythemia ⚠
• p.Glu53Gln Single submitter Chuvash polycythemia ⚠
• p.Glu55Asp Single submitter Chuvash polycythemia ⚠
• p.Glu55Gln Single submitter Chuvash polycythemia ⚠
• p.Glu6Asp Single submitter von Hippel-Lindau disease ⚠
• p.Glu70Ala Single submitter Chuvash polycythemia
• p.Glu70Val Single submitter hereditary neoplastic syndrome ⚠
• p.Glu94Val Single submitter Chuvash polycythemia ⚠
• p.Gly104Ala Single submitter von Hippel-Lindau disease ⚠
• p.Gly14Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Gly14Val Single submitter hereditary neoplastic syndrome ⚠
• p.Gly19Arg Single submitter von Hippel-Lindau disease ⚠
• p.Gly19Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Gly19Val Single submitter Chuvash polycythemia ⚠
• p.Gly24Val Single submitter Chuvash polycythemia ⚠
• p.Gly29Ala Single submitter von Hippel-Lindau disease ⚠
• p.Gly34Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Gly39Ala Single submitter Chuvash polycythemia ⚠
• p.Gly44Ser Single submitter Chuvash polycythemia ⚠
• p.Gly49Val Single submitter Chuvash polycythemia ⚠
• p.Gly57Arg Single submitter Chuvash polycythemia ⚠
• p.Gly93_Tyr98del Single submitter Chuvash polycythemia