ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome

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ClinVar version:
Total variants: 243
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HGVS dbSNP
NM_001354689.3(RAF1):c.*729AACA[4] rs371820097
NM_001354689.3(RAF1):c.*729AACA[6] rs371820097
NM_001354689.3(RAF1):c.1139T>C (p.Phe380Ser)
NM_001354689.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_001354689.3(RAF1):c.1478A>G (p.Asn493Ser)
NM_001354689.3(RAF1):c.1492G>A (p.Glu498Lys)
NM_001354689.3(RAF1):c.1526T>C (p.Leu509Ser)
NM_001354689.3(RAF1):c.1527G>T (p.Leu509Phe) rs1553610155
NM_001354689.3(RAF1):c.176G>A (p.Arg59His) rs1559447623
NM_001354689.3(RAF1):c.1781A>G (p.Tyr594Cys) rs370242565
NM_001354689.3(RAF1):c.226A>G (p.Met76Val) rs730880999
NM_001354689.3(RAF1):c.31A>T (p.Ile11Phe) rs779001930
NM_001354689.3(RAF1):c.445C>T (p.Leu149Phe) rs1559433480
NM_001354689.3(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_001354689.3(RAF1):c.767G>C (p.Arg256Thr)
NM_001354689.3(RAF1):c.776C>A (p.Ser259Tyr) rs397516827
NM_001354689.3(RAF1):c.977C>T (p.Ser326Leu) rs886041231
NM_001374258.1(BRAF):c.1325C>A (p.Pro442His) rs199927105
NM_001374258.1(BRAF):c.1325C>G (p.Pro442Arg) rs199927105
NM_001374258.1(BRAF):c.1529C>G (p.Thr510Arg) rs397516891
NM_001374258.1(BRAF):c.1575G>T (p.Leu525Phe) rs180177036
NM_001374258.1(BRAF):c.1622A>C (p.Glu541Ala) rs180177039
NM_001374258.1(BRAF):c.1819T>G (p.Leu607Val)
NM_001374258.1(BRAF):c.1860T>C (p.Asn620=)
NM_001374258.1(BRAF):c.1916C>T (p.Thr639Ile) rs121913375
NM_001374258.1(BRAF):c.2248-16_2248-15del rs886062015
NM_001374258.1(BRAF):c.2248-27_2248-16delinsTCT rs886062016
NM_001374258.1(BRAF):c.2248-28dup rs60814637
NM_001374258.1(BRAF):c.2248-4del rs886062014
NM_001374258.1(BRAF):c.2248-5dup rs373442098
NM_001374258.1(BRAF):c.2281T>G (p.Leu761Val)
NM_001374258.1(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_001374258.1(BRAF):c.977T>C (p.Ile326Thr) rs368435578
NM_001374258.1(BRAF):c.995C>T (p.Thr332Ile) rs1008080053
NM_002524.4(NRAS):c.-132C>T rs886045109
NM_002524.4(NRAS):c.-179G>C rs886045110
NM_002524.4(NRAS):c.-209A>G rs886045111
NM_002524.4(NRAS):c.-242G>C rs886045112
NM_002524.4(NRAS):c.-245C>T rs886045113
NM_002524.5(NRAS):c.*1062_*1063del rs775070295
NM_002524.5(NRAS):c.*935dup rs886045106
NM_002524.5(NRAS):c.235C>T (p.Leu79Phe)
NM_002524.5(NRAS):c.457G>A (p.Glu153Lys)
NM_002755.4(MAP2K1):c.*148_*149del rs745540522
NM_002755.4(MAP2K1):c.*917del rs886051370
NM_002755.4(MAP2K1):c.*917dup rs886051370
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002834.5(PTPN11):c.*1157ATG[13] rs80269561
NM_002834.5(PTPN11):c.*1157ATG[16] rs80269561
NM_002834.5(PTPN11):c.*1157ATG[17] rs80269561
NM_002834.5(PTPN11):c.*2731G>A rs768622106
NM_002834.5(PTPN11):c.*41_*46del rs886048967
NM_002834.5(PTPN11):c.*656del rs886048968
NM_002834.5(PTPN11):c.1277A>C (p.His426Pro) rs727505389
NM_002834.5(PTPN11):c.1380-14C>G rs193922657
NM_002834.5(PTPN11):c.1468G>A (p.Val490Ile) rs781083623
NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala) rs397507539
NM_002834.5(PTPN11):c.15-4del rs1223869705
NM_002834.5(PTPN11):c.1500G>T (p.Gln500His)
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.5(PTPN11):c.325T>C (p.Ser109Pro)
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002834.5(PTPN11):c.387A>C (p.Lys129Asn)
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_002834.5(PTPN11):c.395A>C (p.His132Pro)
NM_002834.5(PTPN11):c.455G>A (p.Arg152His) rs397507521
NM_002834.5(PTPN11):c.487G>A (p.Gly163Ser) rs730880992
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp) rs143433437
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381
NM_002834.5(PTPN11):c.64A>G (p.Thr22Ala)
NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)
NM_002834.5(PTPN11):c.827A>G (p.Lys276Arg) rs777603059
NM_002834.5(PTPN11):c.854T>A (p.Phe285Tyr) rs121918463
NM_002834.5(PTPN11):c.940T>C (p.Phe314Leu) rs968167995
NM_002880.3(RAF1):c.-339_-338AG[1] rs527774250
NM_004409.5(DMPK):c.161-189T>C rs752437441
NM_004985.5(KRAS):c.-160A>G rs727503111
NM_004985.5(KRAS):c.164T>G (p.Ile55Ser)
NM_004985.5(KRAS):c.198A>G (p.Ala66=) rs200229810
NM_004985.5(KRAS):c.264A>G (p.Lys88=) rs370920665
NM_005188.4(CBL):c.2519G>C (p.Cys840Ser) rs376536789
NM_005343.4(HRAS):c.374T>C (p.Val125Ala)
NM_005343.4(HRAS):c.450+107_450+112dup
NM_005343.4(HRAS):c.520C>G (p.Pro174Ala) rs397517144
NM_005633.4(SOS1):c.*1090TTTG[1] rs886056016
NM_005633.4(SOS1):c.*1694del rs767903412
NM_005633.4(SOS1):c.*2048_*2050dup rs761591990
NM_005633.4(SOS1):c.*2063_*2066dup rs886056011
NM_005633.4(SOS1):c.*2208dup rs886056010
NM_005633.4(SOS1):c.*2503_*2506dup rs886056007
NM_005633.4(SOS1):c.*298C>G rs886056021
NM_005633.4(SOS1):c.*3189_*3192del rs572584074
NM_005633.4(SOS1):c.*3416_*3417del rs200892895
NM_005633.4(SOS1):c.*3566_*3568del rs886056005
NM_005633.4(SOS1):c.*696G>A rs886056018
NM_005633.4(SOS1):c.*766del rs533720751
NM_005633.4(SOS1):c.1175C>G (p.Ser392Cys)
NM_005633.4(SOS1):c.1250T>C (p.Leu417Pro)
NM_005633.4(SOS1):c.1310T>G (p.Ile437Ser) rs397517150
NM_005633.4(SOS1):c.1391T>C (p.Phe464Ser)
NM_005633.4(SOS1):c.1403T>C (p.Met468Thr)
NM_005633.4(SOS1):c.1405A>T (p.Ile469Phe)
NM_005633.4(SOS1):c.1422T>A (p.Asn474Lys)
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838
NM_005633.4(SOS1):c.1528T>C (p.Tyr510His) rs201404055
NM_005633.4(SOS1):c.1644T>A (p.Ser548Arg) rs730881045
NM_005633.4(SOS1):c.1829T>C (p.Ile610Thr) rs776146535
NM_005633.4(SOS1):c.1989A>C (p.Ile663=) rs587781172
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile) rs142004123
NM_005633.4(SOS1):c.244A>G (p.Ile82Val) rs397517157
NM_005633.4(SOS1):c.253T>C (p.Trp85Arg) rs730881054
NM_005633.4(SOS1):c.2708A>C (p.Glu903Ala)
NM_005633.4(SOS1):c.280A>G (p.Ile94Val) rs144757941
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671
NM_005633.4(SOS1):c.3197G>C (p.Ser1066Thr) rs1428068201
NM_005633.4(SOS1):c.3286T>A (p.Ser1096Thr) rs376722127
NM_005633.4(SOS1):c.3290G>C (p.Ser1097Thr) rs727505379
NM_005633.4(SOS1):c.3392G>A (p.Arg1131Lys) rs768113420
NM_005633.4(SOS1):c.3433G>A (p.Asp1145Asn) rs727505383
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734
NM_005633.4(SOS1):c.38A>G (p.Glu13Gly)
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241
NM_005633.4(SOS1):c.608A>G (p.Asp203Gly)
NM_005633.4(SOS1):c.698A>G (p.Asn233Ser) rs144934321
NM_005633.4(SOS1):c.797_799del (p.Thr266_Val267delinsIle)
NM_005633.4(SOS1):c.805A>G (p.Met269Val)
NM_005633.4(SOS1):c.809C>G (p.Thr270Arg)
NM_006270.5(RRAS):c.11G>C (p.Gly4Ala)
NM_006270.5(RRAS):c.147C>A (p.Phe49Leu)
NM_006270.5(RRAS):c.158A>T (p.Tyr53Phe) rs908791453
NM_006270.5(RRAS):c.167C>G (p.Ser56Cys) rs537601977
NM_006270.5(RRAS):c.175G>C (p.Asp59His) rs775437600
NM_006270.5(RRAS):c.241+5G>A
NM_006270.5(RRAS):c.241+6G>A
NM_006270.5(RRAS):c.307G>A (p.Gly103Ser)
NM_006270.5(RRAS):c.338G>A (p.Arg113Gln) rs766259420
NM_006270.5(RRAS):c.344+6_344+7del
NM_006270.5(RRAS):c.352G>A (p.Glu118Lys)
NM_006270.5(RRAS):c.371C>G (p.Thr124Arg)
NM_006270.5(RRAS):c.371C>T (p.Thr124Met) rs369508242
NM_006270.5(RRAS):c.394C>T (p.Arg132Cys)
NM_006270.5(RRAS):c.400G>A (p.Asp134Asn) rs374650566
NM_006270.5(RRAS):c.409G>A (p.Val137Ile) rs757080959
NM_006270.5(RRAS):c.427A>T (p.Lys143Ter) rs896071517
NM_006270.5(RRAS):c.448C>T (p.Arg150Cys)
NM_006270.5(RRAS):c.454-6C>T rs1568436933
NM_006270.5(RRAS):c.457C>A (p.Pro153Thr) rs1423079476
NM_006270.5(RRAS):c.472_473insTT (p.Ser158fs) rs760978291
NM_006270.5(RRAS):c.496G>A (p.Val166Met)
NM_006270.5(RRAS):c.49G>T (p.Gly17Trp) rs373359206
NM_006270.5(RRAS):c.509A>G (p.Glu170Gly)
NM_006270.5(RRAS):c.515C>T (p.Ser172Leu) rs754342165
NM_006270.5(RRAS):c.526C>T (p.Arg176Cys)
NM_006270.5(RRAS):c.533A>G (p.Asn178Ser)
NM_006270.5(RRAS):c.553C>A (p.Gln185Lys)
NM_006270.5(RRAS):c.562C>T (p.Arg188Trp)
NM_006270.5(RRAS):c.572G>A (p.Arg191Gln) rs759803129
NM_006270.5(RRAS):c.572G>T (p.Arg191Leu)
NM_006270.5(RRAS):c.598C>T (p.Pro200Ser)
NM_006270.5(RRAS):c.614C>T (p.Ala205Val)
NM_006270.5(RRAS):c.61C>T (p.Pro21Ser) rs1166281308
NM_006270.5(RRAS):c.623A>G (p.Lys208Arg) rs1568436746
NM_006270.5(RRAS):c.627G>T (p.Lys209Asn)
NM_006270.5(RRAS):c.631G>A (p.Gly211Arg) rs369588682
NM_006270.5(RRAS):c.649C>G (p.Leu217Val) rs988964363
NM_006270.5(RRAS):c.64G>T (p.Gly22Trp) rs754976061
NM_006270.5(RRAS):c.67G>A (p.Asp23Asn)
NM_006270.5(RRAS):c.74C>T (p.Pro25Leu) rs558985706
NM_006270.5(RRAS):c.94C>T (p.Leu32=)
NM_006912.6(RIT1):c.113C>A (p.Thr38Asn)
NM_006912.6(RIT1):c.152A>T (p.Asp51Val)
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268
NM_006912.6(RIT1):c.235C>G (p.Gln79Glu)
NM_006939.4(SOS2):c.13C>G (p.Pro5Ala)
NM_006939.4(SOS2):c.1634G>A (p.Arg545His)
NM_006939.4(SOS2):c.2312_2313insTGTCCT (p.Phe772_Asp773insValLeu)
NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg)
NM_006939.4(SOS2):c.530A>G (p.Asp177Gly)
NM_007373.4(SHOC2):c.1231A>G (p.Thr411Ala) rs730881021
NM_007373.4(SHOC2):c.1741A>G (p.Met581Val) rs1470655019
NM_007373.4(SHOC2):c.187G>A (p.Gly63Arg)
NM_007373.4(SHOC2):c.307A>G (p.Met103Val)
NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly) rs730881019
NM_030662.4(MAP2K2):c.1109A>G (p.Lys370Arg) rs1599278009
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241
NM_030662.4(MAP2K2):c.26T>C (p.Leu9Pro) rs758307267
NM_030662.4(MAP2K2):c.46C>A (p.Pro16Thr) rs904859028
NM_030662.4(MAP2K2):c.523A>G (p.Ile175Val) rs373325880
NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn) rs150369301
NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln) rs151133017
NM_033360.4(KRAS):c.*101_*106del rs1339924833
NM_033360.4(KRAS):c.*1326C>T rs574966178
NM_033360.4(KRAS):c.*1622G>A rs886049194
NM_033360.4(KRAS):c.*16T>C rs779184057
NM_033360.4(KRAS):c.*1752A>G rs763217196
NM_033360.4(KRAS):c.*1777A>G rs886049193
NM_033360.4(KRAS):c.*180A>G rs886049198
NM_033360.4(KRAS):c.*1826C>G rs539213224
NM_033360.4(KRAS):c.*1831G>A rs531344668
NM_033360.4(KRAS):c.*1893A>G rs886049192
NM_033360.4(KRAS):c.*1967del rs886049191
NM_033360.4(KRAS):c.*2012T>C rs886049190
NM_033360.4(KRAS):c.*2360A>G rs886049189
NM_033360.4(KRAS):c.*2391_*2392insC rs886049188
NM_033360.4(KRAS):c.*2446G>A rs886049187
NM_033360.4(KRAS):c.*2577G>A rs886049186
NM_033360.4(KRAS):c.*2605G>A rs779071703
NM_033360.4(KRAS):c.*2815C>T rs886049185
NM_033360.4(KRAS):c.*297C>T rs886049197
NM_033360.4(KRAS):c.*3092_*3095del rs886049184
NM_033360.4(KRAS):c.*314C>T rs150334904
NM_033360.4(KRAS):c.*3269C>T rs886049183
NM_033360.4(KRAS):c.*3323T>C rs886049182
NM_033360.4(KRAS):c.*3575T>C rs749403585
NM_033360.4(KRAS):c.*3620C>T rs886049181
NM_033360.4(KRAS):c.*3672C>G rs188922523
NM_033360.4(KRAS):c.*3766A>G rs529959450
NM_033360.4(KRAS):c.*3803_*3804dup rs142323886
NM_033360.4(KRAS):c.*3875_*3878del rs886049180
NM_033360.4(KRAS):c.*4036A>G rs886049179
NM_033360.4(KRAS):c.*4187del rs34719539
NM_033360.4(KRAS):c.*4195G>A rs886049177
NM_033360.4(KRAS):c.*4549G>C rs545014897
NM_033360.4(KRAS):c.*4604G>A rs577486152
NM_033360.4(KRAS):c.*4619T>C rs768891600
NM_033360.4(KRAS):c.*4643G>A rs886049176
NM_033360.4(KRAS):c.*491C>G rs886049196
NM_033360.4(KRAS):c.*659del rs756307694
NM_033360.4(KRAS):c.*671C>T rs566222739
NM_033360.4(KRAS):c.*886A>G rs886049195
NM_033360.4(KRAS):c.*986T>C rs559143985
NM_033360.4(KRAS):c.-128C>G rs886049199
NM_033360.4(KRAS):c.-176_-174CGG[4] rs886049200
NM_033360.4(KRAS):c.-180G>A rs886049201
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473
NM_144670.6(A2ML1):c.1417G>T (p.Asp473Tyr) rs201950472
NM_152594.3(SPRED1):c.1225_1226delinsTT (p.Ala409Phe) rs1566877075
NM_152594.3(SPRED1):c.47G>A (p.Arg16Gln)
NM_152594.3(SPRED1):c.836G>A (p.Ser279Asn)
NM_152594.3(SPRED1):c.854C>T (p.Pro285Leu)

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