ClinVar Miner

List of variants studied for RASopathy by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 202
Download table as spreadsheet
HGVS dbSNP
NM_000267.3(NF1):c.204+1G>T rs886039548
NM_000267.3(NF1):c.2970_2972delAAT (p.Met992del) rs267606606
NM_000267.3(NF1):c.4267A>G (p.Lys1423Glu) rs137854550
NM_000267.3(NF1):c.5242C>T (p.Arg1748Ter) rs876657714
NM_000267.3(NF1):c.6791dupA (p.Tyr2264Terfs) rs876657715
NM_001042492.2(NF1):c.(?_-50)_(*68_?)del
NM_001042492.2(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.2(NF1):c.3060delA (p.Val1021Terfs) rs1555614521
NM_001042492.2(NF1):c.3827G>A (p.Arg1276Gln) rs137854556
NM_002524.3(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.3(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.4(NRAS):c.149C>T (p.Thr50Ile) rs267606921
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.199G>A (p.Asp67Asn) rs727504317
NM_002755.3(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
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.389A>G (p.Tyr130Cys) rs121908595
NM_002834.4(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.4(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.4(PTPN11):c.1471C>A (p.Pro491Thr) 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.1507G>A (p.Gly503Arg) rs397507545
NM_002834.4(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.4(PTPN11):c.1510A>G (p.Met504Val) rs397507547
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.155C>T (p.Thr52Ile) rs397507503
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.181G>A (p.Asp61Asn) rs397507510
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.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>C (p.Ala72Pro) 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_218delACinsCT (p.Thr73Leu) rs397516802
NM_002834.4(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
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.235C>A (p.Gln79Lys) rs397516803
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.774G>T (p.Glu258Asp) rs397516809
NM_002834.4(PTPN11):c.781C>T (p.Leu261Phe) rs397507525
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.844A>G (p.Ile282Val) rs397507529
NM_002834.4(PTPN11):c.846C>G (p.Ile282Met) rs397507530
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_002880.3(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
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.524A>G (p.His175Arg) rs397516822
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.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.775T>C (p.Ser259Pro) rs3730271
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>G (p.Val263Gly) rs397516830
NM_004333.4(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.4(BRAF):c.1409C>G (p.Thr470Arg) rs397516891
NM_004333.4(BRAF):c.1442C>A (p.Ala481Glu) rs397516892
NM_004333.4(BRAF):c.1447A>C (p.Lys483Gln) rs397507474
NM_004333.4(BRAF):c.1449A>C (p.Lys483Asn) rs727504375
NM_004333.4(BRAF):c.1460T>G (p.Val487Gly) rs397516893
NM_004333.4(BRAF):c.1501G>A (p.Glu501Lys) rs180177038
NM_004333.4(BRAF):c.1501G>C (p.Glu501Gln) rs180177038
NM_004333.4(BRAF):c.1695T>G (p.Asp565Glu) rs397507480
NM_004333.4(BRAF):c.1743T>A (p.Asn581Lys) rs397516895
NM_004333.4(BRAF):c.1801A>C (p.Lys601Gln) rs121913364
NM_004333.4(BRAF):c.1802A>C (p.Lys601Thr) rs397507484
NM_004333.4(BRAF):c.1914T>G (p.Asp638Glu) rs180177042
NM_004333.4(BRAF):c.2135C>A (p.Ala712Asp) rs727502904
NM_004333.4(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.4(BRAF):c.722C>A (p.Thr241Lys) rs387906660
NM_004333.4(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.4(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004333.4(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_004333.5(BRAF):c.1403T>C (p.Phe468Ser) rs397507473
NM_004333.5(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.5(BRAF):c.1454T>C (p.Leu485Ser) rs397507475
NM_004333.5(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_004333.5(BRAF):c.1455G>T (p.Leu485Phe) rs180177036
NM_004333.5(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_004333.5(BRAF):c.1502A>T (p.Glu501Val) rs180177039
NM_004333.5(BRAF):c.1595G>A (p.Cys532Tyr) rs397507479
NM_004333.5(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.5(BRAF):c.1720C>T (p.His574Tyr) rs397516894
NM_004333.5(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.5(BRAF):c.1785T>G (p.Phe595Leu) rs121913341
NM_004333.5(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.5(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.5(BRAF):c.730A>C (p.Thr244Pro) rs397507465
NM_004333.5(BRAF):c.736G>C (p.Ala246Pro) rs180177034
NM_004333.5(BRAF):c.769C>A (p.Gln257Lys) rs397507469
NM_004333.5(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_004985.4(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004985.4(KRAS):c.101C>T (p.Pro34Leu) rs104894366
NM_004985.4(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_004985.4(KRAS):c.173C>T (p.Thr58Ile) rs104894364
NM_004985.4(KRAS):c.178G>C (p.Gly60Arg) rs104894359
NM_004985.4(KRAS):c.179G>T (p.Gly60Val) rs727503108
NM_004985.4(KRAS):c.211T>G (p.Tyr71Asp) rs387907205
NM_004985.4(KRAS):c.214A>T (p.Met72Leu) rs727504662
NM_004985.4(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_004985.4(KRAS):c.454G>T (p.Val152Phe) rs397517041
NM_004985.4(KRAS):c.458A>G (p.Asp153Gly) rs104894360
NM_004985.4(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004985.4(KRAS):c.466T>A (p.Phe156Ile) rs397517042
NM_004985.4(KRAS):c.466T>G (p.Phe156Val) rs397517042
NM_004985.4(KRAS):c.65A>G (p.Gln22Arg) rs727503110
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_1096-1delAAAG rs397517077
NM_005188.3(CBL):c.1099C>A (p.Gln367Lys) rs727504504
NM_005188.3(CBL):c.1228-2A>G rs727504426
NM_005633.3(SOS1):c.1132A>G (p.Thr378Ala) rs397517146
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.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>G (p.Phe623Val) rs727505093
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.2671G>A (p.Glu891Lys) rs1553353452
NM_005633.3(SOS1):c.3022T>C (p.Tyr1008His) rs397517163
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.508A>G (p.Lys170Glu) rs397517172
NM_005633.3(SOS1):c.512T>C (p.Val171Ala) rs397517174
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_006912.5(RIT1):c.104G>C (p.Ser35Thr) rs869025189
NM_006912.5(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.5(RIT1):c.229G>C (p.Ala77Pro) rs869025191
NM_006912.5(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.5(RIT1):c.251C>T (p.Ala84Val) rs869025196
NM_006912.5(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_006912.5(RIT1):c.284G>C (p.Gly95Ala) rs672601335
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_033360.3(KRAS):c.13A>G (p.Lys5Glu) rs193929331
NM_033360.3(KRAS):c.182A>G (p.Gln61Arg) rs121913240

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.