ClinVar Miner

List of variants reported as likely pathogenic for connective tissue neoplasm

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 353
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HGVS dbSNP
NC_000014.8:g.96163103_96857129dup
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter) rs121917830
NM_000127.2(EXT1):c.1021A>G (p.Arg341Gly) rs1554580149
NM_000127.2(EXT1):c.1063T>C (p.Cys355Arg) rs1587003655
NM_000127.2(EXT1):c.1315_1337dup (p.Lys447_His448insHisValThrValTer) rs1563571296
NM_000127.2(EXT1):c.1884-1G>T rs1131691623
NM_000127.2(EXT1):c.572T>C (p.Leu191Ser) rs1563659467
NM_000127.2(EXT1):c.992C>A (p.Ala331Asp) rs1554580153
NM_000127.3(EXT1):c.1015G>A (p.Gly339Ser)
NM_000127.3(EXT1):c.1037G>T (p.Arg346Ile)
NM_000127.3(EXT1):c.444del (p.Ser149fs)
NM_000127.3(EXT1):c.70G>T (p.Gly24Ter)
NM_000127.3(EXT1):c.934T>C (p.Cys312Arg)
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met) rs199544087
NM_000143.3(FH):c.322C>T (p.Gln108Ter) rs1060499630
NM_000215.3(JAK3):c.1503G>C (p.Gln501His) rs201283129
NM_000215.3(JAK3):c.1503G>T (p.Gln501His) rs201283129
NM_000215.3(JAK3):c.1715C>T (p.Ala572Val) rs121913504
NM_000215.3(JAK3):c.1970G>A (p.Arg657Gln) rs758959409
NM_000215.3(JAK3):c.2164G>A (p.Val722Ile) rs3213409
NM_000215.3(JAK3):c.260T>C (p.Ile87Thr) rs1057519770
NM_000215.3(JAK3):c.394C>A (p.Pro132Thr) rs3212723
NM_000222.2(KIT):c.1675G>A (p.Val559Ile) rs121913520
NM_000222.3(KIT):c.2466T>A rs121913514
NM_000222.3(KIT):c.2466T>G rs121913514
NM_000267.3(NF1):c.3447G>T (p.Met1149Ile) rs1064794277
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del) rs750123656
NM_000401.3(EXT2):c.359T>G (p.Met120Arg) rs140075817
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) rs1555727841
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348
NM_000459.4(TEK):c.2228G>C (p.Gly743Ala) rs202131936
NM_000460.4(THPO):c.13+2T>C
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000546.5(TP53):c.373A>C (p.Thr125Pro) rs1057520003
NM_000546.5(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.5(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.5(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_000546.5(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.5(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.5(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_000546.5(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_000546.5(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_000546.5(TP53):c.526T>C (p.Cys176Arg) rs967461896
NM_000546.5(TP53):c.526T>G (p.Cys176Gly) rs967461896
NM_000546.5(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.5(TP53):c.527G>T (p.Cys176Phe) rs786202962
NM_000546.5(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.5(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.5(TP53):c.535C>G (p.His179Asp) rs587780070
NM_000546.5(TP53):c.535C>T (p.His179Tyr) rs587780070
NM_000546.5(TP53):c.536A>C (p.His179Pro) rs1057519991
NM_000546.5(TP53):c.536A>G (p.His179Arg) rs1057519991
NM_000546.5(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.5(TP53):c.537T>G (p.His179Gln) rs876660821
NM_000546.5(TP53):c.577C>A (p.His193Asn) rs876658468
NM_000546.5(TP53):c.577C>G (p.His193Asp) rs876658468
NM_000546.5(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.5(TP53):c.578A>C (p.His193Pro) rs786201838
NM_000546.5(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.5(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.5(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.5(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.5(TP53):c.584T>G (p.Ile195Ser) rs760043106
NM_000546.5(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_000546.5(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.5(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.5(TP53):c.644G>T (p.Ser215Ile) rs587782177
NM_000546.5(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_000546.5(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_000546.5(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_000546.5(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.5(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_000546.5(TP53):c.746G>C (p.Arg249Thr) rs587782329
NM_000546.5(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.5(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.5(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.5(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.5(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.5(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_000546.5(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_000546.5(TP53):c.839G>T (p.Arg280Ile) rs121912660
NM_000546.5(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.5(TP53):c.856G>C (p.Glu286Gln) rs786201059
NM_000546.5(TP53):c.857A>C (p.Glu286Ala) rs1057519985
NM_000546.5(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_000546.5(TP53):c.857A>T (p.Glu286Val) rs1057519985
NM_000546.6(TP53):c.422G>T rs587781288
NM_000546.6(TP53):c.583A>T rs942158624
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000760.4(CSF3R):c.1843A>G (p.Thr615Ala) rs1057519776
NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile) rs796065343
NM_001025203.1(U2AF1):c.101C>A (p.Ser34Tyr) rs371769427
NM_001025203.1(U2AF1):c.101C>T (p.Ser34Phe) rs371769427
NM_001025203.1(U2AF1):c.470A>C (p.Gln157Pro) rs371246226
NM_001025203.1(U2AF1):c.470A>G (p.Gln157Arg) rs371246226
NM_001042492.3(NF1):c.2182_2196delinsT (p.Val728fs) rs1597712665
NM_001145661.2(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_001145661.2(GATA2):c.1192C>T (p.Arg398Trp) rs387906629
NM_001195427.2(SRSF2):c.284C>G (p.Pro95Arg)
NM_001276697.2(TP53):c.-57T>A rs1057519978
NM_001276697.2(TP53):c.-57T>C rs1057519978
NM_001276697.2(TP53):c.-57T>G rs1057519978
NM_001285829.1(CEBPA):c.-172_-168del rs1060502121
NM_001285829.1(CEBPA):c.-38del rs1600023511
NM_001289910.1(IDH2):c.358A>G (p.Arg120Gly) rs1057519906
NM_001289910.1(IDH2):c.358A>T (p.Arg120Trp) rs1057519906
NM_001370259.2(MEN1):c.*412G>A rs972128957
NM_001370259.2(MEN1):c.*470A>G rs778272737
NM_001374258.1(BRAF):c.1862A>G (p.Asn621Ser) rs121913370
NM_001754.4(RUNX1):c.484A>G (p.Arg162Gly) rs1057519751
NM_001754.4(RUNX1):c.485G>A (p.Arg162Lys) rs1057519750
NM_001754.4(RUNX1):c.486G>C (p.Arg162Ser) rs1057519749
NM_001754.4(RUNX1):c.486G>T (p.Arg162Ser) rs1057519749
NM_001754.4(RUNX1):c.601C>T (p.Arg201Ter) rs1057519748
NM_001754.5(RUNX1):c.1219_1221delinsGGGATCGTTCGGA (p.Tyr407fs)
NM_001904.4(CTNNB1):c.100G>A (p.Gly34Arg) rs121913399
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg) rs121913399
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) rs28931589
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr) rs28931588
NM_001982.3(ERBB3):c.4009G>A (p.Ala1337Thr) rs755855285
NM_002227.4(JAK1):c.1972G>T (p.Val658Phe) rs1057519753
NM_002227.4(JAK1):c.2347C>T (p.Leu783Phe)
NM_002430.3(MN1):c.772_776del (p.His258fs) rs1568986076
NM_002430.3(MN1):c.785del (p.Gly262fs) rs1568986066
NM_002520.6(NPM1):c.862_863insCATG (p.Trp288fs) rs1057519744
NM_002520.6(NPM1):c.862_863insCCTG (p.Trp288fs) rs1057519744
NM_002520.6(NPM1):c.862_863insTCAG (p.Trp288fs) rs1057519744
NM_002520.6(NPM1):c.862_863insTCTG (p.Trp288fs) rs1057519744
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.5(NRAS):c.183A>C (p.Gln61His) rs121913255
NM_002524.5(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys) rs121913250
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala) rs121913237
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.5(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_002609.4(PDGFRB):c.1998C>A (p.Asn666Lys) rs864309711
NM_002834.4(PTPN11):c.1232C>T (p.Thr411Met) rs121918467
NM_002834.4(PTPN11):c.215C>A (p.Ala72Asp) rs121918454
NM_002834.4(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_003482.3(KMT2D):c.11047C>T (p.Gln3683Ter) rs1565779530
NM_003977.2(AIP):c.(?_1)_(*_?)del
NM_003977.2(AIP):c.-1212_279+578del
NM_003977.3(AIP):c.74_81delTCCCGGACins7
NM_003977.3(AIP):c.[-125-145_-125-144delCGinsAA];[-125-95G>A]
NM_003977.3(AIP):c.[878_879delAGinsGT];[880_891delCTGGACCCAGCC]
NM_003977.4(AIP):c.100-1025_279+357del
NM_003977.4(AIP):c.140_163del (p.Gly47_Arg54del) rs267606537
NM_003977.4(AIP):c.166C>A (p.Arg56Ser) rs267606538
NM_003977.4(AIP):c.174G>C (p.Lys58Asn) rs267606539
NM_003977.4(AIP):c.245_249del (p.Glu82fs) rs267606542
NM_003977.4(AIP):c.249G>T (p.Gly83=) rs104895072
NM_003977.4(AIP):c.250G>A (p.Glu84Lys) rs267606543
NM_003977.4(AIP):c.280-1G>A rs267606544
NM_003977.4(AIP):c.286_287del (p.Val96fs) rs267606545
NM_003977.4(AIP):c.2T>C (p.Met1Thr) rs267606546
NM_003977.4(AIP):c.308A>G (p.Lys103Arg) rs267606548
NM_003977.4(AIP):c.350del (p.Gly117fs) rs267606549
NM_003977.4(AIP):c.3G>A (p.Met1Ile) rs886037871
NM_003977.4(AIP):c.3_4insC (p.Ala2fs) rs267606547
NM_003977.4(AIP):c.404del (p.His135fs) rs267606551
NM_003977.4(AIP):c.424C>T (p.Gln142Ter) rs267606552
NM_003977.4(AIP):c.468+1G>A rs267606554
NM_003977.4(AIP):c.469-1G>A rs267606555
NM_003977.4(AIP):c.469-2A>G rs267606556
NM_003977.4(AIP):c.490C>T (p.Gln164Ter) rs104895073
NM_003977.4(AIP):c.500del (p.Pro167fs) rs267606557
NM_003977.4(AIP):c.521_525del (p.Glu174fs) rs267606558
NM_003977.4(AIP):c.543del (p.Ile182fs) rs267606559
NM_003977.4(AIP):c.550C>T (p.Gln184Ter) rs267606560
NM_003977.4(AIP):c.584T>C (p.Val195Ala) rs267606561
NM_003977.4(AIP):c.591G>A (p.Glu197=) rs202006716
NM_003977.4(AIP):c.601A>T (p.Lys201Ter) rs267606563
NM_003977.4(AIP):c.646G>T (p.Glu216Ter) rs267606565
NM_003977.4(AIP):c.649C>T (p.Gln217Ter) rs267606566
NM_003977.4(AIP):c.64C>T (p.Arg22Ter) rs121908357
NM_003977.4(AIP):c.662dup (p.Pro221_Glu222insTer) rs104895075
NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del) rs267606567
NM_003977.4(AIP):c.70G>T (p.Glu24Ter) rs267606568
NM_003977.4(AIP):c.713G>A (p.Cys238Tyr) rs267606569
NM_003977.4(AIP):c.715C>T (p.Gln239Ter) rs267606571
NM_003977.4(AIP):c.721A>T (p.Lys241Ter) rs267606573
NM_003977.4(AIP):c.739TAC[1] (p.Tyr248del) rs267606574
NM_003977.4(AIP):c.769A>G (p.Ile257Val) rs267606575
NM_003977.4(AIP):c.803A>G (p.Tyr268Cys) rs267606577
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter) rs121908356
NM_003977.4(AIP):c.824dup (p.His275fs) rs267606580
NM_003977.4(AIP):c.829G>C (p.Ala277Pro) rs267606581
NM_003977.4(AIP):c.854_857del (p.Gln285fs) rs267606582
NM_003977.4(AIP):c.919dup (p.Arg307fs) rs267606589
NM_004119.3(FLT3):c.1715A>G (p.Tyr572Cys) rs121913491
NM_004119.3(FLT3):c.1736T>C (p.Val579Ala) rs1057520022
NM_004119.3(FLT3):c.1771T>G (p.Tyr591Asp) rs1057520043
NM_004119.3(FLT3):c.1772A>G (p.Tyr591Cys) rs1057520024
NM_004119.3(FLT3):c.1775T>C (p.Val592Ala) rs1057520025
NM_004119.3(FLT3):c.1780T>C (p.Phe594Leu) rs1057520021
NM_004119.3(FLT3):c.1855G>T (p.Gly619Cys) rs1057519769
NM_004119.3(FLT3):c.1952A>G (p.Asp651Gly) rs1057519768
NM_004119.3(FLT3):c.1987A>C (p.Lys663Gln) rs1057520026
NM_004119.3(FLT3):c.2026A>G (p.Asn676Asp) rs1057519767
NM_004119.3(FLT3):c.2028C>A (p.Asn676Lys) rs1057519766
NM_004119.3(FLT3):c.2028C>G (p.Asn676Lys) rs1057519766
NM_004119.3(FLT3):c.2059A>T (p.Ile687Phe) rs1057519765
NM_004119.3(FLT3):c.2073T>A (p.Phe691Leu) rs1057519764
NM_004119.3(FLT3):c.2073T>G (p.Phe691Leu) rs1057519764
NM_004119.3(FLT3):c.2503_2504delinsTT (p.Asp835Phe) rs1057519763
NM_004119.3(FLT3):c.2503_2505del (p.Asp835del) rs121913486
NM_004119.3(FLT3):c.2506A>G (p.Ile836Val) rs1057519726
NM_004119.3(FLT3):c.2506A>T (p.Ile836Phe) rs1057519726
NM_004119.3(FLT3):c.2507T>G (p.Ile836Ser) rs1057520023
NM_004119.3(FLT3):c.2508_2510del (p.Ile836del) rs121913490
NM_004119.3(FLT3):c.2516A>G (p.Asp839Gly) rs991132188
NM_004119.3(FLT3):c.2521A>C (p.Asn841His) rs772061268
NM_004119.3(FLT3):c.2523C>A (p.Asn841Lys) rs749281035
NM_004119.3(FLT3):c.2524T>C (p.Tyr842His) rs1057519762
NM_004119.3(FLT3):c.2525A>G (p.Tyr842Cys) rs376588714
NM_004260.3(RECQL4):c.1717C>T (p.Gln573Ter) rs1483085748
NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp) rs868064163
NM_004364.4(CEBPA):c.195_198delinsACG (p.Ser65fs) rs1600023950
NM_004364.5(CEBPA):c.442G>T (p.Glu148Ter)
NM_004364.5(CEBPA):c.60dup (p.Ser21fs)
NM_004525.3(LRP2):c.13753C>T (p.Arg4585Ter) rs202057289
NM_004972.3(JAK2):c.1691G>T (p.Arg564Leu) rs368927897
NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) rs77375493
NM_004972.3(JAK2):c.2047A>G (p.Arg683Gly) rs1057519721
NM_004972.3(JAK2):c.2624C>A (p.Thr875Asn) rs1057520016
NM_004985.5(KRAS):c.183A>C (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441
NM_005157.6(ABL1):c.1052T>C (p.Met351Thr) rs121913457
NM_005157.6(ABL1):c.1064A>G (p.Glu355Gly) rs121913450
NM_005157.6(ABL1):c.1075T>A (p.Phe359Ile) rs121913452
NM_005157.6(ABL1):c.1075T>C (p.Phe359Leu) rs121913452
NM_005157.6(ABL1):c.1075T>G (p.Phe359Val) rs121913452
NM_005157.6(ABL1):c.1076T>G (p.Phe359Cys) rs1057519775
NM_005157.6(ABL1):c.1187A>G (p.His396Arg) rs121913454
NM_005157.6(ABL1):c.706G>A (p.Glu236Lys) rs387906517
NM_005157.6(ABL1):c.730A>G (p.Met244Val) rs121913456
NM_005157.6(ABL1):c.742C>G (p.Leu248Val) rs121913455
NM_005157.6(ABL1):c.749G>A (p.Gly250Glu) rs121913453
NM_005157.6(ABL1):c.756G>C (p.Gln252His) rs121913458
NM_005157.6(ABL1):c.756G>T (p.Gln252His) rs121913458
NM_005157.6(ABL1):c.757T>C (p.Tyr253His) rs121913461
NM_005157.6(ABL1):c.758A>T (p.Tyr253Phe) rs121913460
NM_005157.6(ABL1):c.763G>A (p.Glu255Lys) rs121913448
NM_005157.6(ABL1):c.764A>T (p.Glu255Val) rs121913449
NM_005157.6(ABL1):c.847T>G (p.Phe283Val) rs1057519758
NM_005157.6(ABL1):c.895G>C (p.Val299Leu) rs1057519771
NM_005157.6(ABL1):c.943A>G (p.Thr315Ala) rs1057519772
NM_005157.6(ABL1):c.944C>T (p.Thr315Ile) rs121913459
NM_005157.6(ABL1):c.949T>A (p.Phe317Ile) rs1057519773
NM_005157.6(ABL1):c.949T>G (p.Phe317Val) rs1057519773
NM_005157.6(ABL1):c.950T>G (p.Phe317Cys) rs1057519774
NM_005157.6(ABL1):c.951C>A (p.Phe317Leu) rs121913451
NM_005157.6(ABL1):c.951C>G (p.Phe317Leu) rs121913451
NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_005188.3(CBL):c.1112A>C (p.Tyr371Ser) rs387906666
NM_005188.4(CBL):c.1228-2A>G rs727504426
NM_005211.3(CSF1R):c.1711T>G (p.Tyr571Asp) rs1057519802
NM_005343.4(HRAS):c.181C>G (p.Gln61Glu) rs28933406
NM_005343.4(HRAS):c.182A>C (p.Gln61Pro) rs121913233
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu) rs121913233
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>C (p.Gly13Ala) rs104894226
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr) rs104894231
NM_005343.4(HRAS):c.436G>C (p.Ala146Pro) rs104894231
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005373.2(MPL):c.1513A>T (p.Ser505Cys) rs1057519752
NM_005373.2(MPL):c.1514G>A (p.Ser505Asn) rs121913614
NM_005373.2(MPL):c.1904C>T (p.Pro635Leu) rs121913612
NM_005373.2(MPL):c.311T>C (p.Phe104Ser) rs1196161699
NM_005373.2(MPL):c.981-1G>C rs769297582
NM_005373.3(MPL):c.1165+1G>C
NM_005373.3(MPL):c.1309-1G>T
NM_005373.3(MPL):c.1469-1G>T
NM_005373.3(MPL):c.1573del (p.Arg525fs)
NM_005373.3(MPL):c.79+2T>A rs146249964
NM_005417.4(SRC):c.1579G>A (p.Glu527Lys) rs879255268
NM_006265.3(RAD21):c.9C>A (p.Tyr3Ter)
NM_006565.4(CTCF):c.1502_1503dup (p.Tyr502fs)
NM_006565.4(CTCF):c.1640_1650delinsT (p.Asp547fs)
NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly) rs1057519960
NM_007194.4(CHEK2):c.319+2T>A rs587782401
NM_012433.3(SF3B1):c.1996A>G (p.Lys666Glu) rs754688962
NM_012433.3(SF3B1):c.1997A>C (p.Lys666Thr) rs374250186
NM_012433.3(SF3B1):c.1997A>G (p.Lys666Arg) rs374250186
NM_012433.3(SF3B1):c.1998G>C (p.Lys666Asn) rs377023736
NM_012433.3(SF3B1):c.1998G>T (p.Lys666Asn) rs377023736
NM_012433.3(SF3B1):c.2098A>C (p.Lys700Gln) rs559063155
NM_012433.3(SF3B1):c.2098A>G (p.Lys700Glu) rs559063155
NM_012433.3(SF3B1):c.2098A>T (p.Lys700Ter) rs559063155
NM_012433.3(SF3B1):c.2099A>C (p.Lys700Thr) rs1057519756
NM_012433.3(SF3B1):c.2099A>G (p.Lys700Arg) rs1057519756
NM_012433.3(SF3B1):c.2099A>T (p.Lys700Ile) rs1057519756
NM_012433.3(SF3B1):c.2100A>C (p.Lys700Asn) rs1057519755
NM_012433.3(SF3B1):c.2100A>T (p.Lys700Asn) rs1057519755
NM_014159.7(SETD2):c.1321C>T (p.Arg441Ter)
NM_014159.7(SETD2):c.3918G>A (p.Trp1306Ter)
NM_015355.4(SUZ12):c.1150_1151del (p.Leu385fs)
NM_015922.3(NSDHL):c.1114del (p.Val372fs) rs587784222
NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu) rs1602937895
NM_015922.3(NSDHL):c.595C>T (p.Arg199Cys) rs587784223
NM_015922.3(NSDHL):c.727G>A (p.Val243Met) rs587784224
NM_016222.4(DDX41):c.142C>T (p.Gln48Ter)
NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs)
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253
NM_022455.4(NSD1):c.4378+1G>A rs587784115
NM_022552.5(DNMT3A):c.1035_1045del (p.Met345fs) rs1573338559
NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys) rs147828672
NM_022552.5(DNMT3A):c.2525A>G (p.Gln842Arg) rs771174392
NM_022552.5(DNMT3A):c.920C>T (p.Pro307Leu) rs759380437
NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641
NM_023110.2(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.2(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_024426.6(WT1):c.1157_1158insTGTACGGT (p.Ala387fs) rs1057519745
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) rs730880471
NM_058172.6(ANTXR2):c.1148G>A (p.Gly383Asp) rs886039907
NM_058172.6(ANTXR2):c.1190dup (p.Gly397_Asp398insTer) rs1578125066
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro) rs886041401
NM_058172.6(ANTXR2):c.241T>C (p.Ser81Pro) rs797045029
NM_058172.6(ANTXR2):c.720del (p.Ser240fs)
NM_058172.6(ANTXR2):c.770dup (p.Tyr257Ter) rs1578172709
NM_058172.6(ANTXR2):c.867_945del (p.Glu289fs) rs1560998734
NM_133171.5(ELMO2):c.1802-1G>C rs886037918
NM_198253.3(TERT):c.1620C>G (p.Ile540Met) rs797046041
NM_207122.2(EXT2):c.238del (p.Arg80fs) rs1565196333
Single allele
t(12;13)(p13.2;q12.2)
t(13;17)(q12.2;q11.2)

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