ClinVar Miner

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

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 119
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HGVS dbSNP
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.149C>T (p.Thr50Ile) rs267606921
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) rs267606920
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
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.383G>T (p.Gly128Val) rs121908596
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.1381G>A (p.Ala461Thr) rs121918468
NM_002834.4(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
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.182A>G (p.Asp61Gly) 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.214G>T (p.Ala72Ser) rs121918453
NM_002834.4(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.4(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.4(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.4(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.4(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.4(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.3(RAF1):c.1472C>G (p.Thr491Arg) rs80338799
NM_002880.3(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.3(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) rs180177038
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
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.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
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.735A>C (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) rs180177034
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
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>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) rs104894230
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.64C>A (p.Gln22Lys) rs121917757
NM_005633.3(SOS1):c.1294T>C (p.Trp432Arg) rs267607080
NM_005633.3(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.3(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.3(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_005633.3(SOS1):c.806T>G (p.Met269Arg) rs137852813
NM_006767.4(LZTR1):c.1943-256C>T rs761685529
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.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_006939.4(SOS2):c.800T>A (p.Met267Lys) rs797045167
NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr)
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.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_033360.4(KRAS):c.*12A>T rs104894360
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.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.211T>C (p.Tyr71His) rs387907205
NM_033360.4(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_033360.4(KRAS):c.439A>G (p.Lys147Glu) rs387907206
NM_152594.3(SPRED1):c.1045_1046del (p.Arg349fs) rs1566876941
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.349C>T (p.Arg117Ter) rs121434312
NM_152594.3(SPRED1):c.423+1G>A rs1566868058
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.70C>T (p.Arg24Ter) rs121434313
NM_152594.3(SPRED1):c.784A>T (p.Arg262Ter) rs121434317

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