ClinVar Miner

List of variants studied for RASopathy by GeneDx

Included ClinVar conditions (52):
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ClinVar version:
Total variants: 55
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HGVS dbSNP
NM_002524.4(NRAS):c.112-1_113dup rs730880967
NM_002755.3(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002755.3(MAP2K1):c.169A>C (p.Lys57Gln) rs397516790
NM_002755.3(MAP2K1):c.383_384delinsTT (p.Gly128Val) rs730880508
NM_002834.4(PTPN11):c.*33-17_*33-13del rs730880991
NM_002834.4(PTPN11):c.1093-9C>A rs12301915
NM_002834.4(PTPN11):c.132C>A (p.Ser44=) rs397507502
NM_002834.4(PTPN11):c.1517_1518delinsCC (p.Gln506Pro) rs397509345
NM_002834.4(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797
NM_002834.4(PTPN11):c.179_182delinsT (p.Gly60_Asp61delinsVal) rs397507508
NM_002834.4(PTPN11):c.332+17T>G rs115658366
NM_002834.4(PTPN11):c.333-3T>C rs146749153
NM_002834.4(PTPN11):c.486C>T (p.Asp162=) rs397507522
NM_002834.4(PTPN11):c.487G>A (p.Gly163Ser) rs730880992
NM_002834.4(PTPN11):c.526-8C>A rs184804143
NM_002834.4(PTPN11):c.762_764ACA[4] (p.Gln257dup) rs397507524
NM_002834.4(PTPN11):c.879C>T (p.His293=) rs117730996
NM_002834.4(PTPN11):c.933+11C>T rs397507532
NM_002834.4(PTPN11):c.990A>C (p.Thr330=) rs369739920
NM_002834.4(PTPN11):c.996C>T (p.Gly332=) rs397507533
NM_002880.3(RAF1):c.1108+9_1108+21delGGGGCCCTCCCTT rs727504451
NM_002880.3(RAF1):c.1537-3_1537-2insGATACATGT rs730880996
NM_004333.6(BRAF):c.-18C>G rs397507453
NM_004333.6(BRAF):c.-19C>T rs71645935
NM_004333.6(BRAF):c.1332G>A (p.Arg444=) rs56101602
NM_004333.6(BRAF):c.1383A>G (p.Gln461=) rs56216404
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696
NM_004333.6(BRAF):c.1992+16G>C rs3789806
NM_004333.6(BRAF):c.2235A>G (p.Leu745=) rs56046546
NM_004333.6(BRAF):c.36G>A (p.Ala12=) rs397507454
NM_004333.6(BRAF):c.399A>G (p.Ser133=) rs397507463
NM_004333.6(BRAF):c.753T>C (p.Cys251=) rs397507468
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_004333.6(BRAF):c.83_88GCGCCG[1] (p.28_29GA[1]) rs397507458
NM_004333.6(BRAF):c.83_88GCGCCG[4] (p.28_29GA[4]) rs397507458
NM_004985.5(KRAS):c.184_186GAG[1] (p.Glu63del) rs730880469
NM_005188.2:c.1227+20insC
NM_005188.2:c.1227+2_1227+3delTACinsAAG
NM_005188.2:c.1228-10insT
NM_005188.3(CBL):c.1076_1087del (p.Asp359_Lys362del) rs397507490
NM_005188.3(CBL):c.107_109ACC[6] (p.His42del) rs373212940
NM_005188.3(CBL):c.1095+19G>T rs2510152
NM_005188.3(CBL):c.1096-4_1096-1del rs397517077
NM_005188.3(CBL):c.1227+2_1227+4delTACinsAAG rs397507493
NM_005188.3(CBL):c.1227+4C>T rs201747825
NM_005188.3(CBL):c.869+19A>G rs181589369
NM_005188.3(CBL):c.869+4A>G rs77284821
NM_005343.4(HRAS):c.35_36delinsAT (p.Gly12Asp) rs727503094
NM_005633.3(SOS1):c.1300_1301delinsAA (p.Gly434Lys) rs730881048
NM_005633.3(SOS1):c.345+12_345+13dupCT rs397517167
NM_005633.3:c.1-36_1-34delGCC
NM_007373.3(SHOC2):c.973-5delT rs730881016
NM_030662.3(MAP2K2):c.-18_-16delCCG rs397517411
NM_030662.3(MAP2K2):c.22del (p.Val8fs) rs730880519
NM_030662.3(MAP2K2):c.71del (p.Pro24fs) rs730880525

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