ClinVar Miner

List of variants in gene combination HRAS, LRRC56 reported as uncertain significance for Noonan syndrome and Noonan-related syndrome

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 263
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628 0.34645
NM_005343.4(HRAS):c.506G>A (p.Arg169Gln) rs142218590 0.00007
NM_005343.4(HRAS):c.508A>T (p.Lys170Ter) rs372936166 0.00005
NM_005343.4(HRAS):c.368G>C (p.Arg123Pro) rs730880464 0.00004
NM_005343.4(HRAS):c.36C>T (p.Gly12=) rs727504424 0.00004
NM_005343.4(HRAS):c.280C>T (p.His94Tyr) rs144718261 0.00003
NM_005343.4(HRAS):c.376G>C (p.Glu126Gln) rs763754805 0.00003
NM_005343.4(HRAS):c.505C>T (p.Arg169Trp) rs151229168 0.00003
NM_005343.4(HRAS):c.111+6C>T rs377130570 0.00002
NM_005343.4(HRAS):c.367C>T (p.Arg123Cys) rs369106578 0.00002
NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys) rs764622691 0.00001
NM_005343.4(HRAS):c.221C>T (p.Thr74Ile) rs1291306227 0.00001
NM_005343.4(HRAS):c.223G>A (p.Gly75Arg) rs756190012 0.00001
NM_005343.4(HRAS):c.277A>G (p.Ile93Val) rs587782949 0.00001
NM_005343.4(HRAS):c.297G>T (p.Gln99His) rs199656012 0.00001
NM_005343.4(HRAS):c.302A>G (p.Lys101Arg) rs1131691997 0.00001
NM_005343.4(HRAS):c.304C>T (p.Arg102Trp) rs1057517913 0.00001
NM_005343.4(HRAS):c.307G>A (p.Val103Met) rs1213269684 0.00001
NM_005343.4(HRAS):c.317C>T (p.Ser106Leu) rs730880462 0.00001
NM_005343.4(HRAS):c.31G>A (p.Ala11Thr) rs727504496 0.00001
NM_005343.4(HRAS):c.329C>T (p.Pro110Leu) rs1204223913 0.00001
NM_005343.4(HRAS):c.365C>T (p.Ala122Val) rs779711606 0.00001
NM_005343.4(HRAS):c.382C>T (p.Arg128Trp) rs1350889077 0.00001
NM_005343.4(HRAS):c.383G>C (p.Arg128Pro) rs1554884794 0.00001
NM_005343.4(HRAS):c.391C>T (p.Gln131Ter) rs376688893 0.00001
NM_005343.4(HRAS):c.394G>A (p.Asp132Asn) rs759893630 0.00001
NM_005343.4(HRAS):c.398T>A (p.Leu133His) rs766801436 0.00001
NM_005343.4(HRAS):c.400G>A (p.Ala134Thr) rs1389157073 0.00001
NM_005343.4(HRAS):c.407G>A (p.Ser136Asn) rs748289593 0.00001
NM_005343.4(HRAS):c.410A>C (p.Tyr137Ser) rs1180561549 0.00001
NM_005343.4(HRAS):c.422A>G (p.Tyr141Cys) rs372048612 0.00001
NM_005343.4(HRAS):c.451-3C>T rs1158205210 0.00001
NM_005343.4(HRAS):c.454G>A (p.Val152Met) rs1851183840 0.00001
NM_005343.4(HRAS):c.461A>T (p.Asp154Val) rs1434040739 0.00001
NM_005343.4(HRAS):c.463G>A (p.Ala155Thr) rs1171537215 0.00001
NM_005343.4(HRAS):c.482G>A (p.Arg161His) rs748729430 0.00001
NM_005343.4(HRAS):c.490C>T (p.Arg164Trp) rs779101895 0.00001
NM_005343.4(HRAS):c.491G>A (p.Arg164Gln) rs753977266 0.00001
NM_005343.4(HRAS):c.496C>T (p.His166Tyr) rs1439562437 0.00001
NM_005343.4(HRAS):c.536C>T (p.Pro179Leu) rs760429548 0.00001
NM_005343.4(HRAS):c.538G>A (p.Gly180Ser) rs772602067 0.00001
NM_005343.4(HRAS):c.546G>A (p.Met182Ile) rs748639813 0.00001
NM_005343.4(HRAS):c.566C>T (p.Ser189Phe) rs1851173218 0.00001
NC_000011.9:g.(?_532626)_(534332_?)dup
NC_000011.9:g.(?_532631)_(532755_?)dup
NC_000011.9:g.(?_532636)_(554276_?)dup
NM_005343.4(HRAS):c.-101C>T rs8176336
NM_005343.4(HRAS):c.-54+3G>A
NM_005343.4(HRAS):c.101C>T (p.Pro34Leu) rs2133994210
NM_005343.4(HRAS):c.103A>G (p.Thr35Ala) rs2133994194
NM_005343.4(HRAS):c.106A>G (p.Ile36Val) rs1060502663
NM_005343.4(HRAS):c.107T>C (p.Ile36Thr) rs775056058
NM_005343.4(HRAS):c.108dup (p.Glu37fs) rs2133994149
NM_005343.4(HRAS):c.110_111+5del rs1564790048
NM_005343.4(HRAS):c.112-10C>A rs727503092
NM_005343.4(HRAS):c.112-11T>A
NM_005343.4(HRAS):c.112-59_*6-51del
NM_005343.4(HRAS):c.115T>A (p.Ser39Thr) rs2133991854
NM_005343.4(HRAS):c.11A>C (p.Tyr4Ser) rs764622691
NM_005343.4(HRAS):c.122G>A (p.Arg41Gln)
NM_005343.4(HRAS):c.122G>C (p.Arg41Pro)
NM_005343.4(HRAS):c.127C>T (p.Gln43Ter) rs2133991697
NM_005343.4(HRAS):c.129G>C (p.Gln43His)
NM_005343.4(HRAS):c.131T>C (p.Val44Ala)
NM_005343.4(HRAS):c.133G>A (p.Val45Ile) rs1564789708
NM_005343.4(HRAS):c.134T>A (p.Val45Asp) rs1028352031
NM_005343.4(HRAS):c.136A>G (p.Ile46Val) rs2133991578
NM_005343.4(HRAS):c.137T>C (p.Ile46Thr) rs1564789700
NM_005343.4(HRAS):c.138T>G (p.Ile46Met) rs1851286467
NM_005343.4(HRAS):c.145G>A (p.Glu49Lys) rs1277340795
NM_005343.4(HRAS):c.145G>C (p.Glu49Gln) rs1277340795
NM_005343.4(HRAS):c.146A>G (p.Glu49Gly)
NM_005343.4(HRAS):c.151T>C (p.Cys51Arg)
NM_005343.4(HRAS):c.158T>A (p.Leu53Ter)
NM_005343.4(HRAS):c.158T>G (p.Leu53Trp)
NM_005343.4(HRAS):c.16_24del (p.Leu6_Val8del)
NM_005343.4(HRAS):c.174_192del (p.Gly60fs) rs878854757
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) rs727503093
NM_005343.4(HRAS):c.175G>T (p.Ala59Ser) rs727503093
NM_005343.4(HRAS):c.177_433dup (p.Glu98Ter)
NM_005343.4(HRAS):c.178G>C (p.Gly60Arg)
NM_005343.4(HRAS):c.17TGG[3] (p.Val9del) rs1164486792
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu) rs121913233
NM_005343.4(HRAS):c.188_230dup (p.Phe78fs) rs1589792614
NM_005343.4(HRAS):c.189G>C (p.Glu63Asp)
NM_005343.4(HRAS):c.191dup (p.Tyr64Ter)
NM_005343.4(HRAS):c.194G>A (p.Ser65Asn)
NM_005343.4(HRAS):c.197C>T (p.Ala66Val)
NM_005343.4(HRAS):c.19G>T (p.Val7Leu)
NM_005343.4(HRAS):c.201G>A (p.Met67Ile)
NM_005343.4(HRAS):c.202C>G (p.Arg68Gly) rs1370690781
NM_005343.4(HRAS):c.202C>T (p.Arg68Trp) rs1370690781
NM_005343.4(HRAS):c.203G>A (p.Arg68Gln) rs730880461
NM_005343.4(HRAS):c.203G>T (p.Arg68Leu) rs730880461
NM_005343.4(HRAS):c.211T>C (p.Tyr71His) rs2133990650
NM_005343.4(HRAS):c.215T>C (p.Met72Thr)
NM_005343.4(HRAS):c.217C>T (p.Arg73Cys)
NM_005343.4(HRAS):c.218G>A (p.Arg73His)
NM_005343.4(HRAS):c.220A>G (p.Thr74Ala)
NM_005343.4(HRAS):c.221C>G (p.Thr74Ser)
NM_005343.4(HRAS):c.230G>A (p.Gly77Asp)
NM_005343.4(HRAS):c.236T>A (p.Leu79Gln) rs1851275137
NM_005343.4(HRAS):c.238T>A (p.Cys80Ser) rs1370566417
NM_005343.4(HRAS):c.245T>C (p.Phe82Ser) rs1851274209
NM_005343.4(HRAS):c.245T>G (p.Phe82Cys) rs1851274209
NM_005343.4(HRAS):c.247G>A (p.Ala83Thr)
NM_005343.4(HRAS):c.250A>G (p.Ile84Val)
NM_005343.4(HRAS):c.253A>G (p.Asn85Asp)
NM_005343.4(HRAS):c.25dup (p.Val9fs)
NM_005343.4(HRAS):c.260C>A (p.Thr87Asn) rs1851272986
NM_005343.4(HRAS):c.260C>T (p.Thr87Ile) rs1851272986
NM_005343.4(HRAS):c.262A>G (p.Lys88Glu)
NM_005343.4(HRAS):c.263A>G (p.Lys88Arg) rs1851272638
NM_005343.4(HRAS):c.269T>C (p.Phe90Ser) rs1589792507
NM_005343.4(HRAS):c.270dup (p.Glu91Ter) rs1851272209
NM_005343.4(HRAS):c.274G>A (p.Asp92Asn) rs1851271948
NM_005343.4(HRAS):c.275A>C (p.Asp92Ala) rs1589792495
NM_005343.4(HRAS):c.282C>G (p.His94Gln) rs375893752
NM_005343.4(HRAS):c.285G>C (p.Gln95His) rs925794740
NM_005343.4(HRAS):c.290+3G>A
NM_005343.4(HRAS):c.290+3G>T
NM_005343.4(HRAS):c.290+6C>A rs878854758
NM_005343.4(HRAS):c.290+9C>G rs747854581
NM_005343.4(HRAS):c.291-3C>T rs1851251687
NM_005343.4(HRAS):c.292G>A (p.Glu98Lys) rs751137946
NM_005343.4(HRAS):c.294G>A (p.Glu98=)
NM_005343.4(HRAS):c.295C>G (p.Gln99Glu) rs1851251123
NM_005343.4(HRAS):c.295C>T (p.Gln99Ter)
NM_005343.4(HRAS):c.305G>A (p.Arg102Gln)
NM_005343.4(HRAS):c.307G>C (p.Val103Leu) rs1213269684
NM_005343.4(HRAS):c.313G>A (p.Asp105Asn) rs1274939921
NM_005343.4(HRAS):c.313G>C (p.Asp105His)
NM_005343.4(HRAS):c.317C>G (p.Ser106Trp) rs730880462
NM_005343.4(HRAS):c.319G>A (p.Asp107Asn)
NM_005343.4(HRAS):c.323A>G (p.Asp108Gly)
NM_005343.4(HRAS):c.325G>A (p.Val109Met) rs1342261234
NM_005343.4(HRAS):c.325G>T (p.Val109Leu)
NM_005343.4(HRAS):c.331A>G (p.Met111Val) rs771447288
NM_005343.4(HRAS):c.331A>T (p.Met111Leu)
NM_005343.4(HRAS):c.332T>C (p.Met111Thr) rs1564789063
NM_005343.4(HRAS):c.343G>A (p.Gly115Arg)
NM_005343.4(HRAS):c.347A>G (p.Asn116Ser)
NM_005343.4(HRAS):c.358C>G (p.Leu120Val) rs397517139
NM_005343.4(HRAS):c.361G>A (p.Ala121Thr) rs1851245429
NM_005343.4(HRAS):c.362C>A (p.Ala121Asp) rs376667492
NM_005343.4(HRAS):c.362C>T (p.Ala121Val) rs376667492
NM_005343.4(HRAS):c.364G>A (p.Ala122Thr) rs1851244921
NM_005343.4(HRAS):c.367C>G (p.Arg123Gly) rs369106578
NM_005343.4(HRAS):c.368G>A (p.Arg123His) rs730880464
NM_005343.4(HRAS):c.370A>G (p.Thr124Ala) rs1851243906
NM_005343.4(HRAS):c.373del (p.Val125fs)
NM_005343.4(HRAS):c.374T>C (p.Val125Ala)
NM_005343.4(HRAS):c.374T>G (p.Val125Gly)
NM_005343.4(HRAS):c.376G>T (p.Glu126Ter)
NM_005343.4(HRAS):c.379T>C (p.Ser127Pro) rs1221709596
NM_005343.4(HRAS):c.383G>A (p.Arg128Gln) rs1554884794
NM_005343.4(HRAS):c.383G>T (p.Arg128Leu) rs1554884794
NM_005343.4(HRAS):c.386A>G (p.Gln129Arg) rs1851242529
NM_005343.4(HRAS):c.388G>C (p.Ala130Pro) rs1564788957
NM_005343.4(HRAS):c.391C>G (p.Gln131Glu) rs376688893
NM_005343.4(HRAS):c.395A>G (p.Asp132Gly)
NM_005343.4(HRAS):c.401C>T (p.Ala134Val) rs397517141
NM_005343.4(HRAS):c.401_402insAAGACCTCGC (p.Ser136fs)
NM_005343.4(HRAS):c.403C>T (p.Arg135Ter)
NM_005343.4(HRAS):c.404G>A (p.Arg135Gln) rs1473091760
NM_005343.4(HRAS):c.406A>G (p.Ser136Gly)
NM_005343.4(HRAS):c.407G>C (p.Ser136Thr)
NM_005343.4(HRAS):c.412G>C (p.Gly138Arg)
NM_005343.4(HRAS):c.412_431del (p.Gly138fs) rs1851237302
NM_005343.4(HRAS):c.413G>A (p.Gly138Asp) rs1554884772
NM_005343.4(HRAS):c.413G>T (p.Gly138Val) rs1554884772
NM_005343.4(HRAS):c.414C>T (p.Gly138=) rs2133986610
NM_005343.4(HRAS):c.415A>T (p.Ile139Phe) rs2133986598
NM_005343.4(HRAS):c.419C>T (p.Pro140Leu) rs745637518
NM_005343.4(HRAS):c.41T>G (p.Val14Gly) rs1589793707
NM_005343.4(HRAS):c.424A>C (p.Ile142Leu) rs1564788848
NM_005343.4(HRAS):c.424A>G (p.Ile142Val) rs1564788848
NM_005343.4(HRAS):c.424A>T (p.Ile142Phe)
NM_005343.4(HRAS):c.424_426del (p.Ile142del)
NM_005343.4(HRAS):c.425T>C (p.Ile142Thr) rs2133986466
NM_005343.4(HRAS):c.426C>A (p.Ile142=) rs533567288
NM_005343.4(HRAS):c.426C>G (p.Ile142Met) rs533567288
NM_005343.4(HRAS):c.427G>A (p.Glu143Lys) rs909222512
NM_005343.4(HRAS):c.427G>C (p.Glu143Gln) rs909222512
NM_005343.4(HRAS):c.429G>C (p.Glu143Asp) rs1226399807
NM_005343.4(HRAS):c.440_450+16del
NM_005343.4(HRAS):c.443C>G (p.Thr148Ser)
NM_005343.4(HRAS):c.445C>A (p.Arg149=)
NM_005343.4(HRAS):c.445C>T (p.Arg149Trp) rs1554884750
NM_005343.4(HRAS):c.445del (p.Arg149fs) rs2133986181
NM_005343.4(HRAS):c.446G>A (p.Arg149Gln)
NM_005343.4(HRAS):c.44G>C (p.Gly15Ala) rs1554885139
NM_005343.4(HRAS):c.44G>T (p.Gly15Val)
NM_005343.4(HRAS):c.450+4A>C
NM_005343.4(HRAS):c.451-6T>G rs1480423930
NM_005343.4(HRAS):c.451G>A (p.Gly151Arg)
NM_005343.4(HRAS):c.451G>C (p.Gly151Arg)
NM_005343.4(HRAS):c.452G>C (p.Gly151Ala) rs1362209698
NM_005343.4(HRAS):c.457G>T (p.Glu153Ter)
NM_005343.4(HRAS):c.463G>T (p.Ala155Ser) rs1171537215
NM_005343.4(HRAS):c.464C>T (p.Ala155Val) rs1269551105
NM_005343.4(HRAS):c.469T>C (p.Tyr157His) rs1851182643
NM_005343.4(HRAS):c.473C>A (p.Thr158Lys)
NM_005343.4(HRAS):c.473C>G (p.Thr158Arg)
NM_005343.4(HRAS):c.473C>T (p.Thr158Met) rs587778400
NM_005343.4(HRAS):c.473_475delinsG (p.Thr158fs)
NM_005343.4(HRAS):c.476T>C (p.Leu159Ser) rs2133982455
NM_005343.4(HRAS):c.477G>T (p.Leu159Phe)
NM_005343.4(HRAS):c.479T>C (p.Val160Ala) rs1851181776
NM_005343.4(HRAS):c.479T>G (p.Val160Gly)
NM_005343.4(HRAS):c.481C>T (p.Arg161Cys) rs758956556
NM_005343.4(HRAS):c.482_511del (p.Arg161_Lys170del) rs2133982236
NM_005343.4(HRAS):c.484G>A (p.Glu162Lys) rs1564787942
NM_005343.4(HRAS):c.484G>C (p.Glu162Gln)
NM_005343.4(HRAS):c.486G>C (p.Glu162Asp)
NM_005343.4(HRAS):c.487A>T (p.Ile163Phe) rs1564787934
NM_005343.4(HRAS):c.489C>G (p.Ile163Met)
NM_005343.4(HRAS):c.491G>C (p.Arg164Pro) rs753977266
NM_005343.4(HRAS):c.493C>A (p.Gln165Lys)
NM_005343.4(HRAS):c.497A>G (p.His166Arg) rs1851180327
NM_005343.4(HRAS):c.4A>G (p.Thr2Ala) rs878854761
NM_005343.4(HRAS):c.503T>C (p.Leu168Pro) rs756367459
NM_005343.4(HRAS):c.506G>T (p.Arg169Leu) rs142218590
NM_005343.4(HRAS):c.511C>G (p.Leu171Val)
NM_005343.4(HRAS):c.515A>G (p.Asn172Ser) rs913523409
NM_005343.4(HRAS):c.516C>A (p.Asn172Lys)
NM_005343.4(HRAS):c.517C>T (p.Pro173Ser) rs1851178613
NM_005343.4(HRAS):c.518C>T (p.Pro173Leu) rs1171786943
NM_005343.4(HRAS):c.520C>G (p.Pro174Ala)
NM_005343.4(HRAS):c.521C>A (p.Pro174His) rs2133982181
NM_005343.4(HRAS):c.529_530del (p.Ser177fs)
NM_005343.4(HRAS):c.529_531del (p.Ser177del)
NM_005343.4(HRAS):c.530G>A (p.Ser177Asn) rs1191074796
NM_005343.4(HRAS):c.530G>C (p.Ser177Thr)
NM_005343.4(HRAS):c.532G>A (p.Gly178Ser)
NM_005343.4(HRAS):c.532G>C (p.Gly178Arg) rs1445835026
NM_005343.4(HRAS):c.535C>T (p.Pro179Ser) rs1201430199
NM_005343.4(HRAS):c.538G>C (p.Gly180Arg)
NM_005343.4(HRAS):c.539G>A (p.Gly180Asp) rs1851175904
NM_005343.4(HRAS):c.542G>A (p.Cys181Tyr) rs1187682907
NM_005343.4(HRAS):c.543C>T (p.Cys181=) rs2133982060
NM_005343.4(HRAS):c.544A>C (p.Met182Leu) rs730880465
NM_005343.4(HRAS):c.544A>G (p.Met182Val) rs730880465
NM_005343.4(HRAS):c.545T>C (p.Met182Thr) rs1851174858
NM_005343.4(HRAS):c.548G>A (p.Ser183Asn)
NM_005343.4(HRAS):c.551G>A (p.Cys184Tyr) rs2133982018
NM_005343.4(HRAS):c.551G>C (p.Cys184Ser) rs2133982018
NM_005343.4(HRAS):c.552dup (p.Lys185fs) rs1554884418
NM_005343.4(HRAS):c.559G>A (p.Val187Met)
NM_005343.4(HRAS):c.55C>A (p.Leu19Met)
NM_005343.4(HRAS):c.560T>C (p.Val187Ala) rs1851173673
NM_005343.4(HRAS):c.565T>G (p.Ser189Ala) rs1851173462
NM_005343.4(HRAS):c.566_568del (p.Ser189del)
NM_005343.4(HRAS):c.59C>T (p.Thr20Ile)
NM_005343.4(HRAS):c.5C>G (p.Thr2Arg) rs1447218022
NM_005343.4(HRAS):c.5C>T (p.Thr2Met) rs1447218022
NM_005343.4(HRAS):c.74A>G (p.Gln25Arg)
NM_005343.4(HRAS):c.88G>A (p.Asp30Asn) rs1226305644
NM_005343.4(HRAS):c.91G>C (p.Glu31Gln)
NM_005343.4(HRAS):c.97G>A (p.Asp33Asn) rs1851315835
NM_005343.4(HRAS):c.99C>A (p.Asp33Glu) rs756934316
NM_176795.5(HRAS):c.463_468dup (p.Gly155_Ser156dup)
NM_176795.5(HRAS):c.500dup (p.Pro169fs) rs35613389

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.