ClinVar Miner

List of variants reported as pathogenic for RASopathy by ClinGen RASopathy Variant Curation Expert Panel

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
Download table as spreadsheet
HGVS dbSNP
NM_002755.3(MAP2K1):c.158T>C (p.Phe53Ser) rs121908594
NM_002755.3(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.3(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.4(PTPN11):c.1529A>C (p.Gln510Pro) 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.188A>G (p.Tyr63Cys) rs121918459
NM_002834.4(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
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.922A>G (p.Asn308Asp) rs28933386
NM_002880.3(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
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.768G>T (p.Arg256Ser) rs397516826
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.781C>T (p.Pro261Ser) rs121434594
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
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.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.101C>T (p.Pro34Leu) rs104894366
NM_004985.5(KRAS):c.15A>T (p.Lys5Asn) rs104894361
NM_004985.5(KRAS):c.173C>T (p.Thr58Ile) rs104894364
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) rs104894359
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile) rs121917758
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.350A>G (p.Lys117Arg) rs104894227
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005633.3(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
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.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.806T>C (p.Met269Thr) rs137852813
NM_007373.3(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
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.401A>G (p.Tyr134Cys) rs727504370

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.