ClinVar Miner

List of variants studied for Moyamoya syndrome by Invitae

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 370
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_155880221)_(156109650_?)del
NC_000011.10:g.(?_532616)_(534342_?)dup
NC_000011.10:g.(?_532636)_(534322_?)del
NC_000011.10:g.(?_532636)_(534322_?)dup
NC_000011.10:g.(?_534206)_(534328_?)dup
NC_000011.9:g.(?_532626)_(534332_?)dup
NC_000011.9:g.(?_532631)_(532755_?)dup
NC_000011.9:g.(?_532631)_(534375_?)dup
NC_000014.8:g.(?_50092240)_(50698021_?)dup
NC_000014.9:g.(?_50188487)_(50204419_?)dup
NM_005343.4(HRAS):c.102C>T (p.Pro34=) rs149199691
NM_005343.4(HRAS):c.106A>G (p.Ile36Val) rs1060502663
NM_005343.4(HRAS):c.111+6C>T rs377130570
NM_005343.4(HRAS):c.112-10C>T rs727503092
NM_005343.4(HRAS):c.112-7_112-5del
NM_005343.4(HRAS):c.120C>T (p.Tyr40=) rs763920334
NM_005343.4(HRAS):c.133G>A (p.Val45Ile)
NM_005343.4(HRAS):c.141T>C (p.Asp47=) rs765092617
NM_005343.4(HRAS):c.153C>T (p.Cys51=) rs759482455
NM_005343.4(HRAS):c.156G>A (p.Leu52=) rs1060504681
NM_005343.4(HRAS):c.171T>C (p.Asp57=) rs776105083
NM_005343.4(HRAS):c.174C>T (p.Thr58=) rs746639086
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.177C>T (p.Ala59=) rs730880456
NM_005343.4(HRAS):c.178G>A (p.Gly60Ser) rs1589792804
NM_005343.4(HRAS):c.17_19TGG[3] (p.Val9del)
NM_005343.4(HRAS):c.186_206dup (p.Glu62_Arg68dup) rs1554884966
NM_005343.4(HRAS):c.203G>A (p.Arg68Gln) rs730880461
NM_005343.4(HRAS):c.219C>T (p.Arg73=) rs749870259
NM_005343.4(HRAS):c.222C>T (p.Thr74=) rs372223975
NM_005343.4(HRAS):c.231C>T (p.Gly77=) rs1182602668
NM_005343.4(HRAS):c.237G>A (p.Leu79=) rs767586105
NM_005343.4(HRAS):c.238T>A (p.Cys80Ser) rs1370566417
NM_005343.4(HRAS):c.245T>G (p.Phe82Cys)
NM_005343.4(HRAS):c.249C>T (p.Ala83=) rs111372582
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) rs138272051
NM_005343.4(HRAS):c.260C>A (p.Thr87Asn)
NM_005343.4(HRAS):c.263A>G (p.Lys88Arg)
NM_005343.4(HRAS):c.270dup (p.Glu91Ter)
NM_005343.4(HRAS):c.274G>A (p.Asp92Asn)
NM_005343.4(HRAS):c.275A>C (p.Asp92Ala) rs1589792495
NM_005343.4(HRAS):c.280C>T (p.His94Tyr)
NM_005343.4(HRAS):c.282C>G (p.His94Gln)
NM_005343.4(HRAS):c.290+6C>A rs878854758
NM_005343.4(HRAS):c.290+9C>G rs747854581
NM_005343.4(HRAS):c.291-6T>G rs766909143
NM_005343.4(HRAS):c.291-8C>T rs1057522962
NM_005343.4(HRAS):c.291-9A>G rs1564789180
NM_005343.4(HRAS):c.295C>G (p.Gln99Glu)
NM_005343.4(HRAS):c.297G>T (p.Gln99His)
NM_005343.4(HRAS):c.302A>G (p.Lys101Arg) rs1131691997
NM_005343.4(HRAS):c.309G>A (p.Val103=) rs575789207
NM_005343.4(HRAS):c.312G>A (p.Lys104=) rs1060504682
NM_005343.4(HRAS):c.317C>G (p.Ser106Trp) rs730880462
NM_005343.4(HRAS):c.317C>T (p.Ser106Leu) rs730880462
NM_005343.4(HRAS):c.31G>A (p.Ala11Thr) rs727504496
NM_005343.4(HRAS):c.330C>T (p.Pro110=) rs200747280
NM_005343.4(HRAS):c.332T>C (p.Met111Thr) rs1564789063
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.357C>T (p.Asp119=) rs111352454
NM_005343.4(HRAS):c.358C>T (p.Leu120=) rs397517139
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) rs104894230
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.363T>C (p.Ala121=) rs146440188
NM_005343.4(HRAS):c.367C>T (p.Arg123Cys) rs369106578
NM_005343.4(HRAS):c.368G>C (p.Arg123Pro) rs730880464
NM_005343.4(HRAS):c.369C>T (p.Arg123=) rs200945755
NM_005343.4(HRAS):c.36C>T (p.Gly12=) rs727504424
NM_005343.4(HRAS):c.378A>G (p.Glu126=) rs397517140
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.382C>T (p.Arg128Trp) rs1350889077
NM_005343.4(HRAS):c.383G>A (p.Arg128Gln)
NM_005343.4(HRAS):c.383G>C (p.Arg128Pro) rs1554884794
NM_005343.4(HRAS):c.388G>C (p.Ala130Pro) rs1564788957
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) rs104894226
NM_005343.4(HRAS):c.391C>T (p.Gln131Ter) rs376688893
NM_005343.4(HRAS):c.394G>A (p.Asp132Asn) rs759893630
NM_005343.4(HRAS):c.397C>T (p.Leu133Phe) rs776888712
NM_005343.4(HRAS):c.398T>A (p.Leu133His) rs766801436
NM_005343.4(HRAS):c.401C>T (p.Ala134Val) rs397517141
NM_005343.4(HRAS):c.407G>A (p.Ser136Asn)
NM_005343.4(HRAS):c.410A>C (p.Tyr137Ser)
NM_005343.4(HRAS):c.411C>T (p.Tyr137=) rs1471385417
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser) rs397517142
NM_005343.4(HRAS):c.412_431del (p.Gly138fs)
NM_005343.4(HRAS):c.413G>A (p.Gly138Asp) rs1554884772
NM_005343.4(HRAS):c.418C>T (p.Pro140Ser) rs144001095
NM_005343.4(HRAS):c.419C>T (p.Pro140Leu)
NM_005343.4(HRAS):c.41T>G (p.Val14Gly) rs1589793707
NM_005343.4(HRAS):c.422A>G (p.Tyr141Cys)
NM_005343.4(HRAS):c.424A>C (p.Ile142Leu) rs1564788848
NM_005343.4(HRAS):c.426C>G (p.Ile142Met)
NM_005343.4(HRAS):c.427G>C (p.Glu143Gln)
NM_005343.4(HRAS):c.42G>A (p.Val14=) rs777038147
NM_005343.4(HRAS):c.435G>A (p.Ser145=) rs747008553
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005343.4(HRAS):c.445C>T (p.Arg149Trp) rs1554884750
NM_005343.4(HRAS):c.451-10C>T rs1589789759
NM_005343.4(HRAS):c.451-3C>T rs1158205210
NM_005343.4(HRAS):c.451-4C>T rs1589789708
NM_005343.4(HRAS):c.451-5C>G rs370181298
NM_005343.4(HRAS):c.451-5C>T rs370181298
NM_005343.4(HRAS):c.451-6T>G
NM_005343.4(HRAS):c.451-8T>C rs373444310
NM_005343.4(HRAS):c.452G>C (p.Gly151Ala) rs1362209698
NM_005343.4(HRAS):c.45C>T (p.Gly15=) rs727504614
NM_005343.4(HRAS):c.460G>A (p.Asp154Asn) rs745497215
NM_005343.4(HRAS):c.461A>T (p.Asp154Val) rs1434040739
NM_005343.4(HRAS):c.463G>T (p.Ala155Ser)
NM_005343.4(HRAS):c.464C>T (p.Ala155Val)
NM_005343.4(HRAS):c.473C>T (p.Thr158Met) rs587778400
NM_005343.4(HRAS):c.477G>A (p.Leu159=) rs140060409
NM_005343.4(HRAS):c.481C>T (p.Arg161Cys) rs758956556
NM_005343.4(HRAS):c.482G>A (p.Arg161His) rs748729430
NM_005343.4(HRAS):c.487A>T (p.Ile163Phe) rs1564787934
NM_005343.4(HRAS):c.490C>T (p.Arg164Trp) rs779101895
NM_005343.4(HRAS):c.491G>A (p.Arg164Gln)
NM_005343.4(HRAS):c.491G>C (p.Arg164Pro)
NM_005343.4(HRAS):c.492G>A (p.Arg164=) rs1461319720
NM_005343.4(HRAS):c.498C>A (p.His166Gln) rs878854760
NM_005343.4(HRAS):c.4A>G (p.Thr2Ala) rs878854761
NM_005343.4(HRAS):c.503T>C (p.Leu168Pro)
NM_005343.4(HRAS):c.505C>T (p.Arg169Trp) rs151229168
NM_005343.4(HRAS):c.506G>A (p.Arg169Gln) rs142218590
NM_005343.4(HRAS):c.508A>T (p.Lys170Ter) rs372936166
NM_005343.4(HRAS):c.510G>A (p.Lys170=) rs397517143
NM_005343.4(HRAS):c.516C>T (p.Asn172=) rs765180494
NM_005343.4(HRAS):c.518C>T (p.Pro173Leu) rs1171786943
NM_005343.4(HRAS):c.519T>G (p.Pro173=) rs759004302
NM_005343.4(HRAS):c.520C>G (p.Pro174Ala) rs397517144
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) rs397517144
NM_005343.4(HRAS):c.532G>C (p.Gly178Arg) rs1445835026
NM_005343.4(HRAS):c.534C>G (p.Gly178=) rs770431635
NM_005343.4(HRAS):c.535C>G (p.Pro179Ala) rs1201430199
NM_005343.4(HRAS):c.537C>T (p.Pro179=) rs371316832
NM_005343.4(HRAS):c.538G>A (p.Gly180Ser) rs772602067
NM_005343.4(HRAS):c.539G>A (p.Gly180Asp)
NM_005343.4(HRAS):c.544A>C (p.Met182Leu)
NM_005343.4(HRAS):c.544A>G (p.Met182Val) rs730880465
NM_005343.4(HRAS):c.546G>A (p.Met182Ile) rs748639813
NM_005343.4(HRAS):c.548G>A (p.Ser183Asn)
NM_005343.4(HRAS):c.54G>A (p.Ala18=) rs148380285
NM_005343.4(HRAS):c.552dup (p.Lys185fs) rs1554884418
NM_005343.4(HRAS):c.565T>G (p.Ser189Ala)
NM_005343.4(HRAS):c.566C>T (p.Ser189Phe)
NM_005343.4(HRAS):c.57G>C (p.Leu19=) rs761648389
NM_005343.4(HRAS):c.5C>T (p.Thr2Met) rs1447218022
NM_005343.4(HRAS):c.60C>T (p.Thr20=) rs774042283
NM_005343.4(HRAS):c.69G>A (p.Leu23=) rs1589793671
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628
NM_005343.4(HRAS):c.90C>T (p.Asp30=) rs745489020
NM_005343.4(HRAS):c.96C>T (p.Tyr32=) rs369039481
NM_005343.4(HRAS):c.97G>A (p.Asp33Asn)
NM_006270.5(RRAS):c.11G>C (p.Gly4Ala)
NM_006270.5(RRAS):c.145T>C (p.Phe49Leu) rs151014532
NM_006270.5(RRAS):c.147C>A (p.Phe49Leu)
NM_006270.5(RRAS):c.154-4C>G rs372925843
NM_006270.5(RRAS):c.158A>T (p.Tyr53Phe) rs908791453
NM_006270.5(RRAS):c.167C>G (p.Ser56Cys) rs537601977
NM_006270.5(RRAS):c.174C>T (p.Tyr58=) rs145282813
NM_006270.5(RRAS):c.175G>C (p.Asp59His) rs775437600
NM_006270.5(RRAS):c.201G>A (p.Thr67=) rs1421164782
NM_006270.5(RRAS):c.231C>A (p.Ala77=) rs557964716
NM_006270.5(RRAS):c.241+5G>A
NM_006270.5(RRAS):c.243C>T (p.Ile81=) rs116683551
NM_006270.5(RRAS):c.255G>A (p.Ala85=) rs142801791
NM_006270.5(RRAS):c.307G>A (p.Gly103Ser)
NM_006270.5(RRAS):c.338G>A (p.Arg113Gln) rs766259420
NM_006270.5(RRAS):c.344+6_344+7del
NM_006270.5(RRAS):c.345-4G>A rs377672475
NM_006270.5(RRAS):c.352G>A (p.Glu118Lys)
NM_006270.5(RRAS):c.362A>G (p.Lys121Arg) rs138124318
NM_006270.5(RRAS):c.371C>T (p.Thr124Met) rs369508242
NM_006270.5(RRAS):c.372G>A (p.Thr124=) rs368978550
NM_006270.5(RRAS):c.379C>T (p.Leu127=) rs145907892
NM_006270.5(RRAS):c.37C>A (p.Arg13=) rs1272875791
NM_006270.5(RRAS):c.394C>T (p.Arg132Cys)
NM_006270.5(RRAS):c.397G>A (p.Asp133Asn) rs61760904
NM_006270.5(RRAS):c.400G>A (p.Asp134Asn) rs374650566
NM_006270.5(RRAS):c.408C>T (p.Pro136=) rs114187560
NM_006270.5(RRAS):c.409G>A (p.Val137Ile) rs757080959
NM_006270.5(RRAS):c.427A>T (p.Lys143Ter) rs896071517
NM_006270.5(RRAS):c.454-6C>T rs1568436933
NM_006270.5(RRAS):c.454-9T>C rs1490597941
NM_006270.5(RRAS):c.457C>A (p.Pro153Thr) rs1423079476
NM_006270.5(RRAS):c.472_473insTT (p.Ser158fs) rs760978291
NM_006270.5(RRAS):c.49G>T (p.Gly17Trp) rs373359206
NM_006270.5(RRAS):c.515C>T (p.Ser172Leu) rs754342165
NM_006270.5(RRAS):c.516G>C (p.Ser172=) rs199924228
NM_006270.5(RRAS):c.526C>T (p.Arg176Cys)
NM_006270.5(RRAS):c.54A>T (p.Gly18=) rs571103858
NM_006270.5(RRAS):c.568G>C (p.Val190Leu) rs2230917
NM_006270.5(RRAS):c.572G>A (p.Arg191Gln) rs759803129
NM_006270.5(RRAS):c.600G>A (p.Pro200=) rs183538580
NM_006270.5(RRAS):c.614C>T (p.Ala205Val)
NM_006270.5(RRAS):c.623A>G (p.Lys208Arg) rs1568436746
NM_006270.5(RRAS):c.627G>T (p.Lys209Asn)
NM_006270.5(RRAS):c.631G>A (p.Gly211Arg) rs369588682
NM_006270.5(RRAS):c.649C>G (p.Leu217Val) rs988964363
NM_006270.5(RRAS):c.64G>T (p.Gly22Trp) rs754976061
NM_006270.5(RRAS):c.74C>T (p.Pro25Leu) rs558985706
NM_006270.5(RRAS):c.94C>T (p.Leu32=)
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) rs869025189
NM_006912.6(RIT1):c.107-9C>G rs200597833
NM_006912.6(RIT1):c.112A>G (p.Thr38Ala) rs1557962699
NM_006912.6(RIT1):c.13A>T (p.Thr5Ser) rs771768320
NM_006912.6(RIT1):c.140C>T (p.Pro47Leu)
NM_006912.6(RIT1):c.151G>T (p.Asp51Tyr) rs869025190
NM_006912.6(RIT1):c.153T>G (p.Asp51Glu) rs1571999275
NM_006912.6(RIT1):c.163+5G>T
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
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.230C>G (p.Ala77Gly)
NM_006912.6(RIT1):c.237+10C>A rs367785615
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) rs869025194
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.265T>C (p.Tyr89His) rs869025197
NM_006912.6(RIT1):c.268A>G (p.Met90Val) rs1557960039
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006912.6(RIT1):c.334C>T (p.Arg112Cys) rs375724784
NM_006912.6(RIT1):c.365G>T (p.Arg122Leu) rs777520196
NM_006912.6(RIT1):c.367C>T (p.Arg123Cys)
NM_006912.6(RIT1):c.375C>T (p.Asp125=) rs34831194
NM_006912.6(RIT1):c.393T>C (p.Leu131=) rs34974790
NM_006912.6(RIT1):c.461G>A (p.Arg154Gln) rs754596127
NM_006912.6(RIT1):c.540G>A (p.Arg180=) rs369738767
NM_006912.6(RIT1):c.640_643AAGA[1] (p.Lys215fs) rs766063111
NM_006912.6(RIT1):c.649del (p.Ser217fs)
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006912.6(RIT1):c.69A>C (p.Lys23Asn) rs1557962794
NM_006939.4(SOS2):c.1042T>G (p.Cys348Gly)
NM_006939.4(SOS2):c.1071A>G (p.Gln357=) rs111961549
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_006939.4(SOS2):c.1146A>G (p.Gln382=) rs1178247373
NM_006939.4(SOS2):c.1176T>C (p.Tyr392=) rs1555370242
NM_006939.4(SOS2):c.1181C>T (p.Pro394Leu)
NM_006939.4(SOS2):c.1320T>A (p.Asn440Lys)
NM_006939.4(SOS2):c.1344G>A (p.Leu448=) rs35530861
NM_006939.4(SOS2):c.1448G>A (p.Ser483Asn) rs17122201
NM_006939.4(SOS2):c.147A>G (p.Glu49=) rs1030329651
NM_006939.4(SOS2):c.1521G>T (p.Glu507Asp) rs141604342
NM_006939.4(SOS2):c.1859A>G (p.Asn620Ser)
NM_006939.4(SOS2):c.185C>T (p.Ala62Val)
NM_006939.4(SOS2):c.1868G>A (p.Arg623His) rs138459515
NM_006939.4(SOS2):c.1889G>A (p.Arg630His) rs754778456
NM_006939.4(SOS2):c.1900A>G (p.Lys634Glu)
NM_006939.4(SOS2):c.195G>A (p.Arg65=) rs1803661
NM_006939.4(SOS2):c.1976T>C (p.Leu659Ser)
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502
NM_006939.4(SOS2):c.2120A>G (p.Glu707Gly) rs369462490
NM_006939.4(SOS2):c.2128G>C (p.Glu710Gln) rs768829374
NM_006939.4(SOS2):c.2154T>C (p.Ser718=) rs568511771
NM_006939.4(SOS2):c.2162-10C>T rs375702667
NM_006939.4(SOS2):c.2162-4C>A rs57179949
NM_006939.4(SOS2):c.2168C>T (p.Ala723Val) rs1566827698
NM_006939.4(SOS2):c.220G>A (p.Val74Ile)
NM_006939.4(SOS2):c.2217G>A (p.Lys739=) rs186110427
NM_006939.4(SOS2):c.2221G>A (p.Ala741Thr) rs1594973893
NM_006939.4(SOS2):c.2246A>G (p.Asn749Ser) rs761689009
NM_006939.4(SOS2):c.2261G>A (p.Ser754Asn) rs181275468
NM_006939.4(SOS2):c.2264C>T (p.Pro755Leu)
NM_006939.4(SOS2):c.2290A>G (p.Ser764Gly)
NM_006939.4(SOS2):c.2304G>T (p.Gln768His) rs778281839
NM_006939.4(SOS2):c.2315T>G (p.Phe772Cys)
NM_006939.4(SOS2):c.2317G>C (p.Asp773His) rs114711076
NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser) rs142863840
NM_006939.4(SOS2):c.2384+5A>G rs376903120
NM_006939.4(SOS2):c.2385-3T>C
NM_006939.4(SOS2):c.2396C>T (p.Pro799Leu) rs773672997
NM_006939.4(SOS2):c.2443A>G (p.Asn815Asp) rs886041958
NM_006939.4(SOS2):c.2520A>G (p.Ala840=) rs775682587
NM_006939.4(SOS2):c.257C>T (p.Ala86Val) rs146272145
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser) rs561495878
NM_006939.4(SOS2):c.2602G>A (p.Gly868Ser) rs751419448
NM_006939.4(SOS2):c.2604C>T (p.Gly868=) rs765945171
NM_006939.4(SOS2):c.2605G>A (p.Val869Ile) rs373143128
NM_006939.4(SOS2):c.2606T>C (p.Val869Ala) rs750095346
NM_006939.4(SOS2):c.2625A>T (p.Ala875=) rs761442415
NM_006939.4(SOS2):c.2640A>G (p.Ser880=) rs146730136
NM_006939.4(SOS2):c.2707G>A (p.Val903Met)
NM_006939.4(SOS2):c.2758A>G (p.Ile920Val) rs755783805
NM_006939.4(SOS2):c.2786-6T>A rs552609367
NM_006939.4(SOS2):c.2849G>A (p.Gly950Glu)
NM_006939.4(SOS2):c.2854G>A (p.Asp952Asn) rs200387871
NM_006939.4(SOS2):c.290G>A (p.Arg97Gln) rs777574895
NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys) rs772746106
NM_006939.4(SOS2):c.2969A>G (p.Glu990Gly) rs761320331
NM_006939.4(SOS2):c.2981C>G (p.Pro994Arg)
NM_006939.4(SOS2):c.2983A>G (p.Met995Val) rs933544183
NM_006939.4(SOS2):c.2986G>A (p.Gly996Arg)
NM_006939.4(SOS2):c.3066A>G (p.Pro1022=) rs201696354
NM_006939.4(SOS2):c.3075+7C>T rs144391749
NM_006939.4(SOS2):c.3076-3C>T
NM_006939.4(SOS2):c.3076C>T (p.Pro1026Ser) rs201874067
NM_006939.4(SOS2):c.3088A>G (p.Thr1030Ala) rs550680554
NM_006939.4(SOS2):c.3114A>G (p.Ile1038Met)
NM_006939.4(SOS2):c.315G>T (p.Leu105=) rs141575190
NM_006939.4(SOS2):c.3172C>T (p.Pro1058Ser)
NM_006939.4(SOS2):c.3190T>C (p.Cys1064Arg)
NM_006939.4(SOS2):c.3235A>G (p.Thr1079Ala) rs61755576
NM_006939.4(SOS2):c.3250A>G (p.Thr1084Ala) rs150752193
NM_006939.4(SOS2):c.3266C>A (p.Pro1089Gln) rs1409054252
NM_006939.4(SOS2):c.3275C>T (p.Pro1092Leu) rs1442962879
NM_006939.4(SOS2):c.3277C>T (p.Pro1093Ser)
NM_006939.4(SOS2):c.3289T>C (p.Ser1097Pro)
NM_006939.4(SOS2):c.3338-4A>G rs777684425
NM_006939.4(SOS2):c.3338-6C>G
NM_006939.4(SOS2):c.3383C>G (p.Ser1128Cys) rs1566815476
NM_006939.4(SOS2):c.338C>T (p.Ser113Leu)
NM_006939.4(SOS2):c.3403A>G (p.Ser1135Gly) rs375478974
NM_006939.4(SOS2):c.3407T>C (p.Leu1136Ser)
NM_006939.4(SOS2):c.3443_3454del (p.Pro1148_Pro1151del)
NM_006939.4(SOS2):c.346-10C>G rs146395803
NM_006939.4(SOS2):c.346-3C>T
NM_006939.4(SOS2):c.3490-13_3490-12dup rs10658395
NM_006939.4(SOS2):c.3490-4del rs10658395
NM_006939.4(SOS2):c.3503C>A (p.Ser1168Tyr) rs143166880
NM_006939.4(SOS2):c.3520G>A (p.Ala1174Thr)
NM_006939.4(SOS2):c.3540_3542TCC[4] (p.Pro1183dup) rs765097073
NM_006939.4(SOS2):c.3553G>T (p.Val1185Leu)
NM_006939.4(SOS2):c.3560C>T (p.Pro1187Leu) rs1594951526
NM_006939.4(SOS2):c.3584C>T (p.Ala1195Val) rs753151750
NM_006939.4(SOS2):c.3614C>T (p.Pro1205Leu) rs113660113
NM_006939.4(SOS2):c.3741C>G (p.Asp1247Glu)
NM_006939.4(SOS2):c.3744G>T (p.Trp1248Cys) rs138133010
NM_006939.4(SOS2):c.3755_3757del (p.Ile1252del) rs775506222
NM_006939.4(SOS2):c.3758G>C (p.Ser1253Thr)
NM_006939.4(SOS2):c.3761C>G (p.Thr1254Arg) rs772587016
NM_006939.4(SOS2):c.3769A>G (p.Asn1257Asp) rs150393358
NM_006939.4(SOS2):c.3781A>C (p.Thr1261Pro) rs1555367637
NM_006939.4(SOS2):c.3818G>A (p.Arg1273Gln)
NM_006939.4(SOS2):c.3830T>C (p.Leu1277Pro) rs146802994
NM_006939.4(SOS2):c.3845A>G (p.Asn1282Ser)
NM_006939.4(SOS2):c.3952C>T (p.Pro1318Ser) rs140995728
NM_006939.4(SOS2):c.396T>C (p.Ala132=) rs774402309
NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg)
NM_006939.4(SOS2):c.399A>C (p.Val133=) rs144584870
NM_006939.4(SOS2):c.432G>A (p.Leu144=) rs1051166055
NM_006939.4(SOS2):c.516G>C (p.Leu172Phe)
NM_006939.4(SOS2):c.533A>C (p.Gln178Pro) rs1273376869
NM_006939.4(SOS2):c.542T>C (p.Ile181Thr)
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869
NM_006939.4(SOS2):c.591A>G (p.Leu197=) rs113460230
NM_006939.4(SOS2):c.599A>G (p.Tyr200Cys) rs148595463
NM_006939.4(SOS2):c.621C>T (p.Ile207=) rs147109760
NM_006939.4(SOS2):c.622G>A (p.Ala208Thr) rs61755579
NM_006939.4(SOS2):c.622G>T (p.Ala208Ser) rs61755579
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln) rs780580623
NM_006939.4(SOS2):c.700C>T (p.Leu234=) rs145848231
NM_006939.4(SOS2):c.702G>A (p.Leu234=) rs200208472
NM_006939.4(SOS2):c.714T>G (p.Ser238=) rs750665891
NM_006939.4(SOS2):c.720C>T (p.Ile240=) rs373852615
NM_006939.4(SOS2):c.721G>A (p.Glu241Lys) rs148747022
NM_006939.4(SOS2):c.780G>T (p.Leu260Phe) rs1348457314
NM_006939.4(SOS2):c.800T>A (p.Met267Lys) rs797045167
NM_006939.4(SOS2):c.800T>G (p.Met267Arg) rs797045167
NM_006939.4(SOS2):c.811A>G (p.Ser271Gly)
NM_006939.4(SOS2):c.816T>C (p.Ser272=) rs35396088
NM_006939.4(SOS2):c.837C>T (p.Ser279=) rs542617984
NM_006939.4(SOS2):c.839G>C (p.Cys280Ser) rs530007285
NM_006939.4(SOS2):c.858+9A>G rs201701595
NM_006939.4(SOS2):c.859-10A>T rs761341096
NM_006939.4(SOS2):c.940G>A (p.Ala314Thr)

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.