List of variants reported as likely pathogenic for polycythemia

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 113

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HGVS	dbSNP	gnomAD frequency
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)	rs33947415	0.00064
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	rs77375493	0.00036
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)	rs28940298	0.00010
NM_000518.5(HBB):c.-140C>T	rs34999973	0.00004
NM_000517.4(HBA2):c.142G>C (p.Asp48His)	rs281864834	0.00003
NM_000551.4(VHL):c.376G>A (p.Asp126Asn)	rs104893831	0.00002
NM_000517.6(HBA2):c.377T>G (p.Leu126Arg)	rs41397847	0.00001
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro)	rs41529844	0.00001
NM_000518.5(HBB):c.341T>A (p.Val114Glu)	rs34484056	0.00001
NM_000551.4(VHL):c.242C>T (p.Pro81Leu)	rs193922608	0.00001
NM_000551.4(VHL):c.340+770T>C	rs1346312258	0.00001
NM_000551.4(VHL):c.377A>G (p.Asp126Gly)	rs1354593943	0.00001
NM_000551.4(VHL):c.429C>T (p.Asp143=)	rs773556807	0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)	rs5030820	0.00001
NM_000551.4(VHL):c.548C>T (p.Ser183Leu)	rs5030823	0.00001
NM_000558.3(HBA1):c.389T>C (p.Leu130Pro)	rs35993655	0.00001
NM_001375405.1(CEP120):c.451C>T (p.Arg151Ter)	rs757499322	0.00001
NM_000517.6(HBA2):c.149_150del (p.Ser50fs)
NM_000517.6(HBA2):c.301-1G>A	rs587776827
NM_000517.6(HBA2):c.313T>C (p.Cys105Arg)	rs1263969213
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr)	rs41417548
NM_000517.6(HBA2):c.379G>A (p.Asp127Asn)	rs33933481
NM_000517.6(HBA2):c.43T>C (p.Trp15Arg)
NM_000517.6(HBA2):c.47del (p.Gly16fs)
NM_000517.6(HBA2):c.48dup (p.Lys17Ter)
NM_000517.6(HBA2):c.82_83insT (p.Glu28fs)
NM_000517.6(HBA2):c.98T>C (p.Met33Thr)
NM_000518.4(HBB):c.137T>G (p.Phe46Cys)	rs33978338
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	rs33946267
NM_000518.4(HBB):c.365A>T (p.Glu122Val)	rs33987957
NM_000518.5(HBB):c.-137C>T	rs33941377
NM_000518.5(HBB):c.-138C>A	rs33944208
NM_000518.5(HBB):c.-140C>G	rs34999973
NM_000518.5(HBB):c.-142C>T	rs34883338
NM_000518.5(HBB):c.-50A>C	rs34305195
NM_000518.5(HBB):c.-77_-76del	rs63750953
NM_000518.5(HBB):c.103G>T (p.Val35Phe)	rs1141387
NM_000518.5(HBB):c.160G>A (p.Ala54Thr)
NM_000518.5(HBB):c.199A>G (p.Lys67Glu)	rs34165323
NM_000518.5(HBB):c.205C>T (p.Leu69Phe)	rs33961459
NM_000518.5(HBB):c.327C>G (p.Asn109Lys)
NM_000518.5(HBB):c.344T>C (p.Leu115Pro)	rs36015961
NM_000518.5(HBB):c.380T>A (p.Val127Glu)	rs33925391
NM_000518.5(HBB):c.92G>A (p.Arg31Lys)	rs33960103
NM_000551.4(VHL):c.-89_-51del
NM_000551.4(VHL):c.160A>T (p.Met54Leu)	rs1696125033
NM_000551.4(VHL):c.161T>G (p.Met54Arg)
NM_000551.4(VHL):c.162G>A (p.Met54Ile)
NM_000551.4(VHL):c.188T>A (p.Leu63Gln)	rs104893827
NM_000551.4(VHL):c.190C>A (p.Arg64Ser)	rs1487408934
NM_000551.4(VHL):c.203C>T (p.Ser68Leu)	rs869025617
NM_000551.4(VHL):c.208G>C (p.Glu70Gln)	rs5030802
NM_000551.4(VHL):c.209A>G (p.Glu70Gly)	rs786202857
NM_000551.4(VHL):c.220G>T (p.Val74Phe)
NM_000551.4(VHL):c.221T>A (p.Val74Asp)	rs5030803
NM_000551.4(VHL):c.224T>G (p.Ile75Ser)	rs1064794271
NM_000551.4(VHL):c.233A>T (p.Asn78Ile)	rs5030804
NM_000551.4(VHL):c.242C>A (p.Pro81Gln)	rs193922608
NM_000551.4(VHL):c.245G>A (p.Arg82His)	rs794726890
NM_000551.4(VHL):c.265C>T (p.Leu89Phe)	rs1575922124
NM_000551.4(VHL):c.277G>C (p.Gly93Arg)	rs5030808
NM_000551.4(VHL):c.278_279delinsTT (p.Gly93Val)	rs1559426072
NM_000551.4(VHL):c.302T>C (p.Leu101Pro)	rs1553619456
NM_000551.4(VHL):c.308C>T (p.Pro103Leu)	rs2125125299
NM_000551.4(VHL):c.319C>G (p.Arg107Gly)	rs397516440
NM_000551.4(VHL):c.340+574A>T	rs982745672
NM_000551.4(VHL):c.340+694_340+711dup	rs1575923363
NM_000551.4(VHL):c.345C>A (p.His115Gln)	rs864622646
NM_000551.4(VHL):c.350G>C (p.Trp117Ser)
NM_000551.4(VHL):c.358A>G (p.Arg120Gly)	rs869025642
NM_000551.4(VHL):c.362A>G (p.Asp121Gly)	rs5030832
NM_000551.4(VHL):c.362A>T (p.Asp121Val)	rs5030832
NM_000551.4(VHL):c.376G>T (p.Asp126Tyr)	rs104893831
NM_000551.4(VHL):c.391A>T (p.Asn131Tyr)	rs2125128340
NM_000551.4(VHL):c.416C>T (p.Ser139Phe)	rs587780732
NM_000551.4(VHL):c.446C>T (p.Ala149Val)	rs1696266503
NM_000551.4(VHL):c.460C>A (p.Pro154Thr)
NM_000551.4(VHL):c.460C>G (p.Pro154Ala)	rs1553619993
NM_000551.4(VHL):c.464-1G>A	rs5030817
NM_000551.4(VHL):c.464T>G (p.Val155Gly)
NM_000551.4(VHL):c.483_500dup (p.Cys162_Arg167dup)	rs1553620312
NM_000551.4(VHL):c.487C>A (p.Leu163Ile)
NM_000551.4(VHL):c.488T>C (p.Leu163Pro)	rs28940297
NM_000551.4(VHL):c.509T>A (p.Val170Asp)	rs864321642
NM_000551.4(VHL):c.533_534del (p.Leu178fs)	rs1559429736
NM_000551.4(VHL):c.555C>G (p.Tyr185Ter)	rs864622109
NM_000551.4(VHL):c.563T>G (p.Leu188Arg)	rs1559429824
NM_000551.4(VHL):c.571C>G (p.His191Asp)	rs28940301
NM_000551.4(VHL):c.572A>C (p.His191Pro)	rs370050374
NM_000551.4(VHL):c.574C>A (p.Pro192Thr)	rs28940300
NM_000551.4(VHL):c.574C>T (p.Pro192Ser)	rs28940300
NM_000551.4(VHL):c.575C>G (p.Pro192Arg)	rs902694906
NM_000551.4(VHL):c.586A>G (p.Lys196Glu)	rs281860296
NM_000551.4(VHL):c.593T>A (p.Leu198Gln)	rs869025667
NM_000551.4(VHL):c.599G>T (p.Arg200Leu)	rs754016774
NM_000551.4(VHL):c.640T>A (p.Ter214Arg)	rs1575932781
NM_000551.4(VHL):c.640T>C (p.Ter214Arg)
NM_000551.4(VHL):c.641G>T (p.Ter214Leu)	rs869025668
NM_000558.5(HBA1):c.184A>T (p.Lys62Ter)
NM_000558.5(HBA1):c.187del (p.Val63fs)	rs1377412693
NM_000558.5(HBA1):c.2T>C (p.Met1Thr)
NM_000558.5(HBA1):c.300+1G>A	rs758093235
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp)	rs63749948
NM_000558.5(HBA1):c.43T>C (p.Trp15Arg)	rs33964317
NM_000558.5(HBA1):c.44G>A (p.Trp15Ter)
NM_000558.5(HBA1):c.45G>A (p.Trp15Ter)	rs1596573335
NM_000558.5(HBA1):c.62_63insT (p.Ala22fs)
NM_000558.5(HBA1):c.95+2T>C
NM_000558.5(HBA1):c.95G>A (p.Arg32Lys)
NM_000558.5(HBA1):c.99G>A (p.Met33Ile)
NM_001430.5(EPAS1):c.1601C>T (p.Pro534Leu)
NM_004972.4(JAK2):c.3284C>T (p.Pro1095Leu)
NM_022051.3(EGLN1):c.1192C>T (p.Arg398Ter)

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