ClinVar Miner

List of variants reported as pathogenic for Noonan syndrome and Noonan-related syndrome

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 336
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HGVS dbSNP
NC_000010.10:g.(?_112327555)_(112771596_?)dup
NC_000015.9:g.(?_38545367)_(39313402_?)del
NC_000015.9:g.(?_38545381)_(38643871_?)del
NC_000015.9:g.(?_38591574)_(38649450_?)del
NM_001085049.3(MRAS):c.203C>T (p.Thr68Ile)
NM_001085049.3(MRAS):c.212A>G (p.Gln71Arg)
NM_001085049.3(MRAS):c.68G>T (p.Gly23Val)
NM_001269039.2(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_002524.5(NRAS):c.101C>T (p.Pro34Leu) rs397514553
NM_002524.5(NRAS):c.112-1_113dup rs730880967
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) rs267606921
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) rs267606920
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.5(NRAS):c.71T>A (p.Ile24Asn) rs869025573
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002709.3(PPP1CB):c.166G>C (p.Ala56Pro) rs1114167429
NM_002709.3(PPP1CB):c.548A>C (p.Glu183Ala) rs886037954
NM_002709.3(PPP1CB):c.548A>T (p.Glu183Val) rs886037954
NM_002709.3(PPP1CB):c.820G>A (p.Glu274Lys) rs886037955
NM_002755.3(MAP2K1):c.158T>C (p.Phe53Ser) rs121908594
NM_002755.3(MAP2K1):c.171G>T (p.Lys57Asn) rs869025608
NM_002755.3(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.3(MAP2K1):c.305A>G (p.Glu102Gly) rs797044593
NM_002755.3(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002755.3(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002755.3(MAP2K1):c.383_384delinsTT (p.Gly128Val) rs730880508
NM_002755.3(MAP2K1):c.388T>A (p.Tyr130Asn)
NM_002755.3(MAP2K1):c.388T>C (p.Tyr130His) rs397516793
NM_002755.3(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.3(PTPN11):c.179_181delGTG (p.Gly60del) rs80338836
NM_002834.4(PTPN11):c.1232C>T (p.Thr411Met) rs121918467
NM_002834.4(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.4(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.4(PTPN11):c.1381G>T (p.Ala461Ser) rs121918468
NM_002834.4(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.4(PTPN11):c.1402A>C (p.Thr468Pro) rs397507537
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.4(PTPN11):c.1471C>G (p.Pro491Ala) rs397507539
NM_002834.4(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.4(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002834.4(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.4(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541
NM_002834.4(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.4(PTPN11):c.1502G>A (p.Arg501Lys) rs397507543
NM_002834.4(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.4(PTPN11):c.1504T>G (p.Ser502Ala) rs121918458
NM_002834.4(PTPN11):c.1505C>T (p.Ser502Leu) rs397507544
NM_002834.4(PTPN11):c.1506_1507delinsCC (p.Gly503Arg) rs1566186833
NM_002834.4(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.4(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.4(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546
NM_002834.4(PTPN11):c.1508G>C (p.Gly503Ala) rs397507546
NM_002834.4(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.4(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.4(PTPN11):c.1517_1518delinsCC (p.Gln506Pro) rs397509345
NM_002834.4(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.4(PTPN11):c.1529A>C (p.Gln510Pro) rs121918470
NM_002834.4(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
NM_002834.4(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_002834.4(PTPN11):c.166A>G (p.Ile56Val) rs397507504
NM_002834.4(PTPN11):c.172A>C (p.Asn58His) rs397507505
NM_002834.4(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.4(PTPN11):c.174C>A (p.Asn58Lys) rs397507506
NM_002834.4(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.4(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.4(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.4(PTPN11):c.179_182delinsT (p.Gly60_Asp61delinsVal) rs397507508
NM_002834.4(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.4(PTPN11):c.181G>C (p.Asp61His) rs397507510
NM_002834.4(PTPN11):c.181_183del (p.Asp61del) rs869025574
NM_002834.4(PTPN11):c.182A>C (p.Asp61Ala) rs121918461
NM_002834.4(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.4(PTPN11):c.182A>T (p.Asp61Val) rs121918461
NM_002834.4(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.4(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459
NM_002834.4(PTPN11):c.205G>C (p.Glu69Gln) rs397507511
NM_002834.4(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.4(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.4(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.4(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.4(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.4(PTPN11):c.217_218delinsCT (p.Thr73Leu) rs397516802
NM_002834.4(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.4(PTPN11):c.227A>T (p.Glu76Val) rs121918465
NM_002834.4(PTPN11):c.228G>C (p.Glu76Asp) rs397507514
NM_002834.4(PTPN11):c.228G>T (p.Glu76Asp) rs397507514
NM_002834.4(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.4(PTPN11):c.317A>C (p.Asp106Ala) rs397507517
NM_002834.4(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002834.4(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.4(PTPN11):c.417G>T (p.Glu139Asp) rs397507520
NM_002834.4(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381
NM_002834.4(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.4(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.4(PTPN11):c.781C>T (p.Leu261Phe) rs397507525
NM_002834.4(PTPN11):c.782T>A (p.Leu261His) rs765642157
NM_002834.4(PTPN11):c.785T>G (p.Leu262Arg) rs397507526
NM_002834.4(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002834.4(PTPN11):c.802G>T (p.Gly268Cys) rs397507527
NM_002834.4(PTPN11):c.836A>C (p.Tyr279Ser) rs121918456
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.4(PTPN11):c.844A>G (p.Ile282Val) rs397507529
NM_002834.4(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.4(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.4(PTPN11):c.854T>G (p.Phe285Cys) rs121918463
NM_002834.4(PTPN11):c.855T>G (p.Phe285Leu) rs397516810
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.4(PTPN11):c.923A>C (p.Asn308Thr) rs121918455
NM_002834.4(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002834.5(PTPN11):c.768_770dup rs397507524
NM_002880.3(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_002880.3(RAF1):c.1456G>A (p.Asp486Asn) rs80338798
NM_002880.3(RAF1):c.1472C>G (p.Thr491Arg) rs80338799
NM_002880.3(RAF1):c.1472C>T (p.Thr491Ile) rs80338799
NM_002880.3(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.3(RAF1):c.505G>C (p.Gly169Arg) rs886039607
NM_002880.3(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_002880.3(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_002880.3(RAF1):c.768G>T (p.Arg256Ser) rs397516826
NM_002880.3(RAF1):c.769T>C (p.Ser257Pro) rs727505017
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.3(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_002880.3(RAF1):c.776C>A (p.Ser259Tyr) rs397516827
NM_002880.3(RAF1):c.776C>G (p.Ser259Cys) rs397516827
NM_002880.3(RAF1):c.776C>T (p.Ser259Phe) rs397516827
NM_002880.3(RAF1):c.781C>A (p.Pro261Thr) rs121434594
NM_002880.3(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_002880.3(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_002880.3(RAF1):c.782C>G (p.Pro261Arg) rs397516828
NM_002880.3(RAF1):c.782C>T (p.Pro261Leu) rs397516828
NM_002880.3(RAF1):c.786T>A (p.Asn262Lys) rs397516829
NM_002880.3(RAF1):c.788T>A (p.Val263Asp) rs397516830
NM_002880.3(RAF1):c.788T>C (p.Val263Ala) rs397516830
NM_002880.3(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_004004.6(GJB2):c.205T>C (p.Phe69Leu)
NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg) rs121913349
NM_004333.6(BRAF):c.1399T>G (p.Ser467Ala) rs869025606
NM_004333.6(BRAF):c.1403T>C (p.Phe468Ser) rs397507473
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1408_1410del (p.Thr470del) rs869025607
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.6(BRAF):c.1497A>T (p.Lys499Asn)
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) rs180177038
NM_004333.6(BRAF):c.1502A>C (p.Glu501Ala) rs180177039
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_004333.6(BRAF):c.1592G>C (p.Trp531Ser)
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) rs606231228
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.6(BRAF):c.1720C>T (p.His574Tyr) rs397516894
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) rs397507481
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys) rs397516895
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) rs794729219
NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu) rs121913341
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.1796C>G (p.Thr599Arg) rs121913375
NM_004333.6(BRAF):c.1798G>C (p.Val600Leu) rs121913378
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1799T>G (p.Val600Gly) rs113488022
NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln) rs121913364
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) rs397507484
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.1914T>G (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.722C>A (p.Thr241Lys) rs387906660
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg) rs387906660
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.6(BRAF):c.730A>C (p.Thr244Pro) rs397507465
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) rs180177034
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) rs397516903
NM_004333.6(BRAF):c.741T>G (p.Phe247Leu) rs397509343
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529
NM_005188.2:c.1227+2_1227+3delTACinsAAG
NM_005188.3(CBL):c.1076_1087del (p.Asp359_Lys362del) rs397507490
NM_005188.3(CBL):c.1096-1G>C rs397517076
NM_005188.3(CBL):c.1096-1G>T rs397517076
NM_005188.3(CBL):c.1096-4_1096-1del rs397517077
NM_005188.3(CBL):c.1100A>C (p.Gln367Pro) rs267606704
NM_005188.3(CBL):c.1111T>A (p.Tyr371Asn) rs267606706
NM_005188.3(CBL):c.1111T>C (p.Tyr371His) rs267606706
NM_005188.3(CBL):c.1227+2_1227+4delinsAAG rs397507493
NM_005343.4(HRAS):c.108_110dup (p.Glu37dup) rs398122809
NM_005343.4(HRAS):c.110_111+1dup rs398122808
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile) rs121917758
NM_005343.4(HRAS):c.187G>A (p.Glu63Lys) rs121917756
NM_005343.4(HRAS):c.187_207dup (p.Glu63_Asp69dup) rs587777239
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.350A>G (p.Lys117Arg) rs104894227
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) rs104894230
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) rs104894230
NM_005343.4(HRAS):c.35_36delinsAT (p.Gly12Asp) rs727503094
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) rs104894226
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr) rs104894231
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005343.4(HRAS):c.450+139dup rs35613389
NM_005343.4(HRAS):c.64C>A (p.Gln22Lys) rs121917757
NM_005633.3(SOS1):c.1294T>C (p.Trp432Arg) rs267607080
NM_005633.3(SOS1):c.1297G>A (p.Glu433Lys) rs397517147
NM_005633.3(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005633.3(SOS1):c.1300_1301delinsAA (p.Gly434Lys) rs730881048
NM_005633.3(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.3(SOS1):c.1322G>A (p.Cys441Tyr) rs727504295
NM_005633.3(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005633.3(SOS1):c.1649T>C (p.Leu550Pro) rs397517153
NM_005633.3(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.3(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_005633.3(SOS1):c.1655G>C (p.Arg552Thr) rs397517154
NM_005633.3(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.3(SOS1):c.1656G>T (p.Arg552Ser) rs267607079
NM_005633.3(SOS1):c.1867T>A (p.Phe623Ile)
NM_005633.3(SOS1):c.2104T>C (p.Tyr702His) rs727505381
NM_005633.3(SOS1):c.2183A>T (p.Lys728Ile) rs397517156
NM_005633.3(SOS1):c.2536G>A (p.Glu846Lys) rs397517159
NM_005633.3(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_005633.3(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005633.3(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_005633.3(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_005633.3(SOS1):c.806T>G (p.Met269Arg) rs137852813
NM_005633.3(SOS1):c.925G>T (p.Asp309Tyr) rs397517180
NM_006767.4(LZTR1):c.-38T>A rs1459786357
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283
NM_006767.4(LZTR1):c.1311G>A (p.Trp437Ter) rs770933647
NM_006767.4(LZTR1):c.1407G>A (p.Trp469Ter) rs777243508
NM_006767.4(LZTR1):c.1943-256C>T rs761685529
NM_006767.4(LZTR1):c.2178C>A (p.Tyr726Ter) rs1034395178
NM_006767.4(LZTR1):c.2220-17C>A rs1249726034
NM_006767.4(LZTR1):c.2264G>A (p.Arg755Gln) rs762834512
NM_006767.4(LZTR1):c.361C>G (p.His121Asp) rs1569154492
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) rs150419186
NM_006767.4(LZTR1):c.740G>A (p.Ser247Asn) rs797045166
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) rs869025189
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro) rs869025191
NM_006912.6(RIT1):c.241G>C (p.Glu81Gln) rs869025192
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) rs869025194
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) rs869025194
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.245T>C (p.Phe82Ser)
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) rs869025195
NM_006912.6(RIT1):c.265T>C (p.Tyr89His) rs869025197
NM_006912.6(RIT1):c.268A>G (p.Met90Val) rs1557960039
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.270G>T (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006912.6(RIT1):c.69A>C (p.Lys23Asn) rs1557962794
NM_006912.6(RIT1):c.91G>C (p.Gly31Arg)
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_006939.4(SOS2):c.800T>A (p.Met267Lys) rs797045167
NM_007373.3(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr)
NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu) rs113954997
NM_012250.6(RRAS2):c.65_73dup (p.Gly22_Gly24dup)
NM_012250.6(RRAS2):c.68G>T (p.Gly23Val)
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup)
NM_030662.3(MAP2K2):c.169T>G (p.Phe57Val) rs121434498
NM_030662.3(MAP2K2):c.170T>G (p.Phe57Cys) rs121434497
NM_030662.3(MAP2K2):c.171T>A (p.Phe57Leu) rs1057519910
NM_030662.3(MAP2K2):c.376A>G (p.Asn126Asp) rs1057519806
NM_030662.3(MAP2K2):c.383C>A (p.Pro128Gln) rs267607230
NM_030662.3(MAP2K2):c.395G>A (p.Gly132Asp) rs387906800
NM_030662.3(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_030662.3(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_033360.4(KRAS):c.*12A>T rs104894360
NM_033360.4(KRAS):c.*20T>A rs397517042
NM_033360.4(KRAS):c.*22C>G rs104894362
NM_033360.4(KRAS):c.*9T>G rs104894367
NM_033360.4(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_033360.4(KRAS):c.101C>T (p.Pro34Leu) rs104894366
NM_033360.4(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_033360.4(KRAS):c.13A>G (p.Lys5Glu) rs193929331
NM_033360.4(KRAS):c.15A>T (p.Lys5Asn) rs104894361
NM_033360.4(KRAS):c.173C>T (p.Thr58Ile) rs104894364
NM_033360.4(KRAS):c.178G>A (p.Gly60Ser) rs104894359
NM_033360.4(KRAS):c.178G>C (p.Gly60Arg) rs104894359
NM_033360.4(KRAS):c.182A>G (p.Gln61Arg) rs121913240
NM_033360.4(KRAS):c.211T>C (p.Tyr71His) rs387907205
NM_033360.4(KRAS):c.214A>T (p.Met72Leu) rs727504662
NM_033360.4(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_033360.4(KRAS):c.439A>G (p.Lys147Glu) rs387907206
NM_033360.4(KRAS):c.440A>G (p.Lys147Arg) rs1135401776
NM_033360.4(KRAS):c.64C>G (p.Gln22Glu) rs121913236
NM_033360.4(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_152594.3(SPRED1):c.103G>T (p.Gly35Ter) rs1555389690
NM_152594.3(SPRED1):c.1044_1046delinsC (p.Arg349fs) rs1566876929
NM_152594.3(SPRED1):c.1045_1046del (p.Arg349fs) rs1566876941
NM_152594.3(SPRED1):c.1053del (p.Lys351fs) rs1566876954
NM_152594.3(SPRED1):c.1095_1098AGTT[1] (p.Ser367fs) rs1555392783
NM_152594.3(SPRED1):c.1149_1150AG[1] (p.Glu384fs) rs878855228
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs)
NM_152594.3(SPRED1):c.1151del (p.Glu384fs)
NM_152594.3(SPRED1):c.131T>A (p.Val44Asp) rs121434318
NM_152594.3(SPRED1):c.190C>T (p.Arg64Ter) rs121434315
NM_152594.3(SPRED1):c.234dup (p.Asp79fs) rs1566867209
NM_152594.3(SPRED1):c.301_307del (p.Leu101fs) rs1566867246
NM_152594.3(SPRED1):c.304dup (p.Thr102fs) rs1555391053
NM_152594.3(SPRED1):c.306_307dup (p.Phe103fs)
NM_152594.3(SPRED1):c.340_341AG[1] (p.Gly115fs) rs1555391061
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter) rs121434312
NM_152594.3(SPRED1):c.384dup (p.Glu129fs) rs1566868022
NM_152594.3(SPRED1):c.421C>T (p.Gln141Ter) rs1060502505
NM_152594.3(SPRED1):c.423+1G>A rs1566868058
NM_152594.3(SPRED1):c.423+2T>C rs1555391161
NM_152594.3(SPRED1):c.46C>T (p.Arg16Ter) rs1057517941
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter) rs750777752
NM_152594.3(SPRED1):c.637C>T (p.Gln213Ter) rs121434316
NM_152594.3(SPRED1):c.643C>T (p.Gln215Ter) rs121434314
NM_152594.3(SPRED1):c.676C>T (p.Gln226Ter) rs1555392609
NM_152594.3(SPRED1):c.70C>T (p.Arg24Ter) rs121434313
NM_152594.3(SPRED1):c.784A>T (p.Arg262Ter) rs121434317
NM_152594.3(SPRED1):c.796_797del (p.Met266fs) rs864622410
NM_152594.3(SPRED1):c.7_20del (p.Glu3fs) rs1555386651
NM_152594.3(SPRED1):c.800G>A (p.Trp267Ter)
NM_152594.3(SPRED1):c.900dup (p.Lys301Ter)
NM_152594.3(SPRED1):c.921_922CT[1] (p.Ser308fs) rs1555392759
NM_152594.3(SPRED1):c.973C>T (p.Arg325Ter) rs1057518683

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