ClinVar Miner

List of variants reported as likely 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: 186
Download table as spreadsheet
HGVS dbSNP
NC_000012.11:g.(?_112915455)_(112915819_?)del
NM_001085049.3(MRAS):c.67G>C (p.Gly23Arg) rs1560171992
NM_001269039.2(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_001354689.3(RAF1):c.773C>G (p.Thr258Arg)
NM_002755.3(MAP2K1):c.124C>T (p.Leu42Phe) rs397516789
NM_002755.3(MAP2K1):c.169A>C (p.Lys57Gln) rs397516790
NM_002755.3(MAP2K1):c.275T>G (p.Leu92Arg) rs397516791
NM_002755.3(MAP2K1):c.323G>T (p.Arg108Leu) rs727504819
NM_002755.3(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
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.388T>C (p.Tyr130His) rs397516793
NM_002755.3(MAP2K1):c.608A>G rs727503996
NM_002755.4(MAP2K1):c.137A>T (p.Gln46Leu)
NM_002834.4(PTPN11):c.1505C>T (p.Ser502Leu) rs397507544
NM_002834.4(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.4(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
NM_002834.4(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.4(PTPN11):c.166A>G (p.Ile56Val) rs397507504
NM_002834.4(PTPN11):c.167T>C (p.Ile56Thr) rs1052382672
NM_002834.4(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.4(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.4(PTPN11):c.182A>C (p.Asp61Ala) rs121918461
NM_002834.4(PTPN11):c.206A>T (p.Glu69Val) rs727503380
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.213T>G (p.Phe71Leu) rs1555267558
NM_002834.4(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.4(PTPN11):c.214G>C (p.Ala72Pro) rs121918453
NM_002834.4(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.4(PTPN11):c.235C>A (p.Gln79Lys) rs397516803
NM_002834.4(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002834.4(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381
NM_002834.4(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.4(PTPN11):c.774G>T (p.Glu258Asp) rs397516809
NM_002834.4(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002834.4(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002834.4(PTPN11):c.802G>T (p.Gly268Cys) rs397507527
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.4(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002834.4(PTPN11):c.853T>G (p.Phe285Val) rs397507531
NM_002834.4(PTPN11):c.959A>G (p.Asn320Ser) rs1398859175
NM_002834.5(PTPN11):c.1271C>T (p.Pro424Leu)
NM_002834.5(PTPN11):c.768_770dup rs397507524
NM_002880.3(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_002880.3(RAF1):c.1172G>T (p.Arg391Met) rs587782972
NM_002880.3(RAF1):c.1423T>C (p.Phe475Leu) rs730881003
NM_002880.3(RAF1):c.1457A>G (p.Asp486Gly) rs397516815
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.285C>G (p.Cys95Trp) rs727503384
NM_002880.3(RAF1):c.452T>C (p.Phe151Ser) rs587782971
NM_002880.3(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_002880.3(RAF1):c.768G>C (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.775T>C (p.Ser259Pro) rs3730271
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.779C>A (p.Thr260Lys)
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.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_004333.6(BRAF):c.1096G>C (p.Ala366Pro)
NM_004333.6(BRAF):c.1387A>G (p.Ile463Val) rs1562957000
NM_004333.6(BRAF):c.1388_1408dup (p.Ile463_Gly469dup) rs1562956929
NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg) rs121913349
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1391G>C (p.Gly464Ala)
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) rs121913348
NM_004333.6(BRAF):c.1406_1411del (p.Gly469_Thr470del)
NM_004333.6(BRAF):c.1408A>C (p.Thr470Pro)
NM_004333.6(BRAF):c.1409C>G (p.Thr470Arg) rs397516891
NM_004333.6(BRAF):c.1442C>A (p.Ala481Glu) rs397516892
NM_004333.6(BRAF):c.1447A>C (p.Lys483Gln) rs397507474
NM_004333.6(BRAF):c.1448A>C (p.Lys483Thr)
NM_004333.6(BRAF):c.1449A>C (p.Lys483Asn) rs727504375
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) rs397507475
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1460T>G (p.Val487Gly) rs397516893
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.6(BRAF):c.1501G>C (p.Glu501Gln) rs180177038
NM_004333.6(BRAF):c.1502A>T (p.Glu501Val) rs180177039
NM_004333.6(BRAF):c.1505_1507dup (p.Val502dup) rs1562955153
NM_004333.6(BRAF):c.1513C>T (p.Leu505Phe) rs397507477
NM_004333.6(BRAF):c.1592G>T (p.Trp531Leu) rs397507478
NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr) rs397507479
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.6(BRAF):c.1695T>G (p.Asp565Glu) rs397507480
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) rs397507481
NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys) rs397516895
NM_004333.6(BRAF):c.1750C>T (p.Leu584Phe)
NM_004333.6(BRAF):c.1782T>G (p.Asp594Glu) rs121913337
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.1802A>T (p.Lys601Ile) rs397507484
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.2134G>A (p.Ala712Thr)
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) rs727502904
NM_004333.6(BRAF):c.2276G>A (p.Gly759Glu)
NM_004333.6(BRAF):c.644C>T (p.Ser215Phe)
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.735A>T (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) rs397516903
NM_004333.6(BRAF):c.739T>G (p.Phe247Val) rs397516903
NM_004333.6(BRAF):c.740T>C (p.Phe247Ser)
NM_004333.6(BRAF):c.741T>G (p.Phe247Leu) rs397509343
NM_004333.6(BRAF):c.769C>A (p.Gln257Lys) rs397507469
NM_004333.6(BRAF):c.779G>A (p.Arg260His)
NM_004333.6(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_004333.6(BRAF):c.785A>G (p.Gln262Arg) rs397516904
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_005188.3(CBL):c.1096-4_1096-1del rs397517077
NM_005188.3(CBL):c.1099C>A (p.Gln367Lys) rs727504504
NM_005188.3(CBL):c.1228-2A>G rs727504426
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) rs727503093
NM_005343.4(HRAS):c.175_176delinsCT (p.Ala59Leu) rs727504747
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) rs28933406
NM_005343.4(HRAS):c.183G>T (p.Gln61His) rs121913496
NM_005343.4(HRAS):c.35_36delinsAA (p.Gly12Glu) rs727503094
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
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.1132A>G (p.Thr378Ala) rs397517146
NM_005633.3(SOS1):c.1293_1294delinsGA (p.Trp432Arg)
NM_005633.3(SOS1):c.1653_1655del (p.Arg552del)
NM_005633.3(SOS1):c.1654A>T (p.Arg552Trp) rs137852814
NM_005633.3(SOS1):c.1655G>T (p.Arg552Met) rs397517154
NM_005633.3(SOS1):c.1867T>A (p.Phe623Ile)
NM_005633.3(SOS1):c.1867T>G (p.Phe623Val) rs727505093
NM_005633.3(SOS1):c.2183A>T (p.Lys728Ile) rs397517156
NM_005633.3(SOS1):c.2197A>T (p.Ile733Phe) rs574088829
NM_005633.3(SOS1):c.253T>C (p.Trp85Arg) rs730881054
NM_005633.3(SOS1):c.2671G>A (p.Glu891Lys) rs1553353452
NM_005633.3(SOS1):c.3022T>C (p.Tyr1008His) rs397517163
NM_005633.3(SOS1):c.305C>G (p.Pro102Arg) rs1553362937
NM_005633.3(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_005633.3(SOS1):c.335C>G (p.Pro112Arg) rs397517166
NM_005633.3(SOS1):c.512T>C (p.Val171Ala) rs397517174
NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu) rs148677674
NM_006767.4(LZTR1):c.510-2A>G
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276
NM_006912.6(RIT1):c.151G>T (p.Asp51Tyr) rs869025190
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.233G>A (p.Gly78Glu) rs1557960268
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.251C>T (p.Ala84Val) rs869025196
NM_006939.4(SOS2):c.1126A>T (p.Thr376Ser)
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
NM_006939.4(SOS2):c.800T>G (p.Met267Arg) rs797045167
NM_030662.3(MAP2K2):c.181A>G (p.Lys61Glu) rs730880517
NM_030662.3(MAP2K2):c.191T>G (p.Val64Gly) rs1135401787
NM_030662.3(MAP2K2):c.376A>G (p.Asn126Asp) rs1057519806
NM_030662.3(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_030662.3(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_030662.3(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_030662.4(MAP2K2):c.187_192del (p.Lys63_Val64del)
NM_033360.4(KRAS):c.*12A>G rs104894360
NM_033360.4(KRAS):c.*20T>G rs397517042
NM_033360.4(KRAS):c.*8G>T rs397517041
NM_033360.4(KRAS):c.101C>G (p.Pro34Arg) 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.179G>T (p.Gly60Val) rs727503108
NM_033360.4(KRAS):c.184_186GAG[1] (p.Glu63del) rs730880469
NM_033360.4(KRAS):c.194G>T (p.Ser65Ile) rs1555194026
NM_033360.4(KRAS):c.211T>G (p.Tyr71Asp) rs387907205
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) rs730880471
NM_033360.4(KRAS):c.436G>T (p.Ala146Ser) rs121913527
NM_033360.4(KRAS):c.458A>T (p.Glu153Val)
NM_033360.4(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_152594.3(SPRED1):c.1196dup (p.Phe400fs) rs1555392791
NM_152594.3(SPRED1):c.1_2del (p.Met1fs) rs1555386649
NM_152594.3(SPRED1):c.207+1G>A
NM_152594.3(SPRED1):c.24del (p.Asp9fs) rs1555386654
NM_152594.3(SPRED1):c.880_881dup (p.Ser295fs) rs1555392750

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.