ClinVar Miner

List of variants reported as benign for Noonan syndrome and Noonan-related syndrome

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 411
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.2791+53C>T rs7577088 0.94549
NM_005633.4(SOS1):c.2964+43C>A rs1454223 0.94284
NM_005633.4(SOS1):c.*2567T>A rs6704656 0.94064
NM_005633.4(SOS1):c.720+25C>G rs997344 0.92897
NM_006939.4(SOS2):c.213+37C>G rs1075537 0.88797
NM_006939.4(SOS2):c.2667+43G>A rs2064667 0.87379
NM_006939.4(SOS2):c.1197-32G>A rs4900992 0.87236
NM_006939.4(SOS2):c.2057+34T>C rs3736761 0.83210
NM_006939.4(SOS2):c.2057+38C>T rs3736760 0.83188
NM_007373.4(SHOC2):c.1161+42T>C rs1980869 0.82744
NM_152594.3(SPRED1):c.291G>A (p.Lys97=) rs7182445 0.82029
NM_152594.3(SPRED1):c.424-8C>A rs7180446 0.82015
NM_152594.3(SPRED1):c.1044T>C (p.Val348=) rs3751526 0.81965
NM_152594.3(SPRED1):c.684+49_684+50insTT rs61670754 0.81547
NM_005633.4(SOS1):c.*1844A>G rs10166395 0.80685
NM_006912.6(RIT1):c.430-7C>T rs1749409 0.80479
NM_006912.6(RIT1):c.-21G>C rs493446 0.80472
NM_005633.4(SOS1):c.*3918T>C rs1043793 0.79061
NM_005633.4(SOS1):c.*3539T>C rs1037495 0.79060
NM_152594.3(SPRED1):c.*4662T>A rs10852019 0.77666
NM_152594.3(SPRED1):c.*5110C>T rs8026118 0.76725
NM_030662.4(MAP2K2):c.919+12A>G rs350911 0.74641
NM_006270.5(RRAS):c.344+13G>A rs1368464 0.71978
NM_006270.5(RRAS):c.333C>T (p.Asn111=) rs1865077 0.71974
NM_006939.4(SOS2):c.2232C>T (p.Asn744=) rs2229869 0.60005
NM_002709.3(PPP1CB):c.201A>G (p.Gln67=) rs1128416 0.57257
NM_005633.4(SOS1):c.*328A>G rs1059310 0.52005
NM_033360.4(KRAS):c.*633T>C rs9266 0.48177
NM_033360.4(KRAS):c.*4200T>A rs12245 0.48134
NM_033360.4(KRAS):c.*298T>G rs712 0.45514
NM_030662.4(MAP2K2):c.660C>A (p.Ile220=) rs10250 0.42547
NM_002834.5(PTPN11):c.1600-95C>T rs3741983 0.37076
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628 0.34645
NM_006939.4(SOS2):c.88-6T>C rs12888783 0.31349
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696 0.30796
NM_002755.4(MAP2K1):c.291+22G>C rs16949924 0.27222
NM_152594.3(SPRED1):c.424-18G>A rs7179118 0.23890
NM_006270.5(RRAS):c.454-10C>G rs731861 0.23663
NM_152594.3(SPRED1):c.*3830G>A rs8039150 0.22628
NM_002524.5(NRAS):c.*872C>T rs14804 0.20324
NM_152594.3(SPRED1):c.*4932A>G rs16966843 0.20289
NM_152594.3(SPRED1):c.*2831G>A rs35490364 0.19653
NM_152594.3(SPRED1):c.424-98= rs7163339 0.17991
NM_152594.3(SPRED1):c.424-8= rs7180446 0.17985
NM_006939.4(SOS2):c.3490-18A>C rs79858475 0.14981
NM_005633.4(SOS1):c.*805C>A rs1059313 0.14564
NM_030662.4(MAP2K2):c.453C>T (p.Asp151=) rs17851657 0.13902
NM_152594.3(SPRED1):c.*3521A>G rs11634702 0.11111
NM_002834.3(PTPN11):c.-273G>A rs58805176 0.10884
NM_152594.3(SPRED1):c.*1724A>C rs1554527 0.08749
NM_152594.3(SPRED1):c.*3996G>A rs72725364 0.08710
NM_004985.5(KRAS):c.451-9G>A rs12313763 0.08467
NM_007373.4(SHOC2):c.*1503A>G rs1327552 0.06997
NM_030662.4(MAP2K2):c.192C>T (p.Val64=) rs8157 0.06496
NM_033360.4(KRAS):c.*2626T>G rs61764370 0.06273
NM_007373.4(SHOC2):c.*1487del rs143768227 0.06116
NM_002834.5(PTPN11):c.14+25G>C rs7972574 0.05545
NM_002834.5(PTPN11):c.854-21C>T rs41279090 0.05308
NM_005633.4(SOS1):c.*3724T>C rs11124658 0.04952
NM_030662.4(MAP2K2):c.405G>C (p.Gly135=) rs10424722 0.04706
NM_152594.3(SPRED1):c.*248T>C rs16966842 0.04503
NM_030662.4(MAP2K2):c.-243C>T rs181533374 0.04405
NM_005343.4(HRAS):c.111+15G>A rs41258054 0.04363
NM_002834.5(PTPN11):c.14+54C>A rs7973432 0.04259
NM_002834.5(PTPN11):c.1093-9C>A rs12301915 0.04151
NM_005633.4(SOS1):c.195A>C (p.Arg65=) rs7609455 0.03809
NM_005343.4(HRAS):c.-10C>T rs41294870 0.03593
NM_005188.4(CBL):c.2592C>T (p.Leu864=) rs1893177 0.03391
NM_006767.4(LZTR1):c.1962C>T (p.Asp654=) rs1131176 0.03087
NM_002524.5(NRAS):c.*687A>G rs9724644 0.02952
NM_002524.5(NRAS):c.*2662G>A rs148827219 0.02701
NM_002524.5(NRAS):c.*2667T>C rs145382662 0.02698
NM_006939.4(SOS2):c.1448G>A (p.Ser483Asn) rs17122201 0.02622
NM_005633.4(SOS1):c.3081+32A>G rs6723430 0.02350
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_006939.4(SOS2):c.816T>C (p.Ser272=) rs35396088 0.02130
NM_002880.4(RAF1):c.1755A>G (p.Val585=) rs3730296 0.02125
NM_005188.4(CBL):c.869+4A>G rs77284821 0.02038
NM_006767.4(LZTR1):c.2160C>T (p.Phe720=) rs79640036 0.01999
NM_002834.5(PTPN11):c.*670G>A rs112287134 0.01588
NM_002755.4(MAP2K1):c.438+20C>T rs16949939 0.01567
NM_002880.4(RAF1):c.*348T>C rs5746247 0.01554
NM_006767.4(LZTR1):c.2253C>T (p.Phe751=) rs143758478 0.01424
NM_007373.4(SHOC2):c.457C>T (p.Leu153=) rs34081996 0.01281
NM_002834.5(PTPN11):c.*801C>T rs138246203 0.01271
NM_002755.4(MAP2K1):c.711G>A (p.Gly237=) rs17586159 0.01226
NM_152594.3(SPRED1):c.*256C>T rs145373657 0.01162
NM_004333.6(BRAF):c.-19C>T rs71645935 0.01115
NM_002880.4(RAF1):c.-281C>G rs61761285 0.01090
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_005633.4(SOS1):c.1203-20T>C rs112906251 0.01058
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_004333.6(BRAF):c.*387G>A rs114105685 0.00981
NM_006939.4(SOS2):c.2162-4C>A rs57179949 0.00961
NM_002834.5(PTPN11):c.854-30T>C rs144391508 0.00909
NM_152594.3(SPRED1):c.*3698T>G rs76527876 0.00908
NM_030662.4(MAP2K2):c.303+18G>A rs116988721 0.00894
NM_002834.5(PTPN11):c.854-32A>C rs187389813 0.00867
NM_004333.6(BRAF):c.1315-18T>G rs6959000 0.00840
NM_002834.5(PTPN11):c.*1374G>C rs139266170 0.00836
NM_006939.4(SOS2):c.591A>G (p.Leu197=) rs113460230 0.00834
NM_002834.5(PTPN11):c.*2927T>A rs190612693 0.00828
NM_002755.4(MAP2K1):c.-2A>G rs77796976 0.00820
NM_002880.4(RAF1):c.1669-13T>C rs147475396 0.00819
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu) rs56219475 0.00787
NM_006912.6(RIT1):c.375C>T (p.Asp125=) rs34831194 0.00759
NM_006939.4(SOS2):c.3075+7C>T rs144391749 0.00743
NM_005188.4(CBL):c.513T>C (p.Ser171=) rs2227987 0.00741
NM_002880.4(RAF1):c.1941C>T (p.Val647=) rs3730297 0.00729
NM_152594.3(SPRED1):c.-93C>T rs192699510 0.00724
NM_007373.4(SHOC2):c.*773G>A rs114628508 0.00719
NM_006939.4(SOS2):c.3489+19C>T rs149825446 0.00700
NM_152594.3(SPRED1):c.-244T>C rs138385793 0.00693
NM_005633.4(SOS1):c.*3458A>C rs114232209 0.00673
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_002834.5(PTPN11):c.*3043C>T rs41307084 0.00647
NM_002834.5(PTPN11):c.*3006G>A rs141870860 0.00646
NM_152594.3(SPRED1):c.583-7A>G rs115970207 0.00630
NM_152594.3(SPRED1):c.*427A>T rs185290497 0.00592
NM_002880.4(RAF1):c.923C>T (p.Pro308Leu) rs5746220 0.00571
NM_007373.4(SHOC2):c.1423-7C>T rs180671383 0.00563
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502 0.00561
NM_006767.4(LZTR1):c.1209C>T (p.Phe403=) rs145833752 0.00550
NM_005188.4(CBL):c.1485G>A (p.Pro495=) rs2229072 0.00547
NM_005633.4(SOS1):c.2167+6T>G rs186640807 0.00510
NM_002834.5(PTPN11):c.757-69T>C rs150087259 0.00468
NM_007373.4(SHOC2):c.*697C>T rs189140753 0.00453
NM_007373.4(SHOC2):c.1594A>G (p.Ser532Gly) rs145463534 0.00423
NM_005633.4(SOS1):c.*3569T>C rs115465194 0.00421
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_005633.4(SOS1):c.345+15C>T rs75937422 0.00407
NM_004333.6(BRAF):c.1383A>G (p.Gln461=) rs56216404 0.00399
NM_006270.5(RRAS):c.397G>A (p.Asp133Asn) rs61760904 0.00394
NM_006270.5(RRAS):c.408C>T (p.Pro136=) rs114187560 0.00377
NM_002755.4(MAP2K1):c.927A>T (p.Ala309=) rs146869577 0.00357
NM_002880.4(RAF1):c.*495C>T rs12808 0.00354
NM_005633.4(SOS1):c.2997T>C (p.Asn999=) rs145364368 0.00352
NM_006939.4(SOS2):c.1344G>A (p.Leu448=) rs35530861 0.00350
NM_002880.4(RAF1):c.*190G>A rs528863135 0.00335
NM_004333.6(BRAF):c.1227A>G (p.Ser409=) rs145035762 0.00318
NM_007373.4(SHOC2):c.-159T>C rs72819758 0.00305
NM_002834.5(PTPN11):c.*325G>A rs192080780 0.00304
NM_006767.4(LZTR1):c.2373C>T (p.His791=) rs148993324 0.00299
NM_002880.4(RAF1):c.*160C>T rs5746246 0.00295
NM_005633.4(SOS1):c.3081+26G>A rs186106971 0.00284
NM_007373.4(SHOC2):c.*164T>A rs191293913 0.00283
NM_030662.4(MAP2K2):c.846C>T (p.Pro282=) rs11539506 0.00282
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073 0.00281
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
NM_152594.3(SPRED1):c.*2742G>T rs149336440 0.00260
NM_152594.3(SPRED1):c.*5398G>T rs115003524 0.00257
NM_005633.4(SOS1):c.570C>T (p.Asp190=) rs55980502 0.00233
NM_002834.5(PTPN11):c.*775G>A rs181946923 0.00230
NM_005633.4(SOS1):c.3081+13A>G rs189695571 0.00223
NM_005343.4(HRAS):c.477G>A (p.Leu159=) rs140060409 0.00222
NM_006767.4(LZTR1):c.2187C>T (p.Tyr729=) rs117346988 0.00222
NM_005633.4(SOS1):c.1230G>A (p.Gln410=) rs141390073 0.00217
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635 0.00204
NM_002834.5(PTPN11):c.*2078G>A rs144513512 0.00193
NM_030662.4(MAP2K2):c.580+6G>A rs201435249 0.00183
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671 0.00164
NM_007373.4(SHOC2):c.*1775T>C rs535776105 0.00157
NM_006767.4(LZTR1):c.1530C>T (p.His510=) rs190714197 0.00155
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974 0.00137
NM_005633.4(SOS1):c.213+16T>C rs150536159 0.00128
NM_007373.4(SHOC2):c.*1483G>A rs180979375 0.00128
NM_002755.4(MAP2K1):c.648C>T (p.Ile216=) rs148968935 0.00123
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_005343.4(HRAS):c.357C>T (p.Asp119=) rs111352454 0.00121
NM_002880.4(RAF1):c.*110T>C rs550188508 0.00112
NM_006939.4(SOS2):c.858+9A>G rs201701595 0.00101
NM_007373.4(SHOC2):c.*3T>C rs143187497 0.00097
NM_006939.4(SOS2):c.213+18A>T rs143888968 0.00096
NM_152594.3(SPRED1):c.675C>T (p.Ser225=) rs144764225 0.00092
NM_002524.5(NRAS):c.*3384C>T rs140049110 0.00091
NM_002880.4(RAF1):c.1830A>G (p.Gln610=) rs141791080 0.00088
NM_002880.4(RAF1):c.581+4A>G rs201776526 0.00087
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578 0.00083
NM_007373.4(SHOC2):c.-179T>A rs143180451 0.00080
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083 0.00076
NM_030662.4(MAP2K2):c.498C>T (p.Pro166=) rs139404261 0.00076
NM_005188.4(CBL):c.1641T>C (p.Pro547=) rs61755280 0.00074
NM_152594.3(SPRED1):c.207+15A>G rs377288061 0.00073
NM_006270.5(RRAS):c.453+20C>T rs117957448 0.00071
NM_152594.3(SPRED1):c.939G>A (p.Thr313=) rs140644874 0.00070
NM_006767.4(LZTR1):c.453C>T (p.Asp151=) rs142421078 0.00069
NM_004333.6(BRAF):c.1332G>A (p.Arg444=) rs56101602 0.00068
NM_006767.4(LZTR1):c.1353+8C>G rs75959644 0.00065
NM_030662.4(MAP2K2):c.1093-6T>C rs369681843 0.00065
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_006270.5(RRAS):c.243C>T (p.Ile81=) rs116683551 0.00063
NM_002755.4(MAP2K1):c.315C>T (p.Pro105=) rs144166521 0.00061
NM_006767.4(LZTR1):c.-6C>T rs188063382 0.00061
NM_006939.4(SOS2):c.3602A>G (p.His1201Arg) rs555945363 0.00061
NM_006939.4(SOS2):c.621C>T (p.Ile207=) rs147109760 0.00061
NM_005633.4(SOS1):c.*44T>C rs182657531 0.00060
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile) rs142004123 0.00053
NM_006939.4(SOS2):c.700C>T (p.Leu234=) rs145848231 0.00053
NM_005633.4(SOS1):c.2760G>A (p.Arg920=) rs149092581 0.00051
NM_005633.4(SOS1):c.345+12_345+13dup rs397517167 0.00050
NM_005633.4(SOS1):c.1203-13T>A rs145166996 0.00049
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00048
NM_006939.4(SOS2):c.1071A>G (p.Gln357=) rs111961549 0.00046
NM_006939.4(SOS2):c.346-10C>G rs146395803 0.00046
NM_006767.4(LZTR1):c.2022C>T (p.Asp674=) rs145303406 0.00044
NM_004333.6(BRAF):c.2127+3A>G rs371976102 0.00043
NM_006939.4(SOS2):c.2162-10C>T rs375702667 0.00042
NM_152594.3(SPRED1):c.30C>A (p.Asn10Lys) rs201692618 0.00042
NM_006939.4(SOS2):c.2959-20T>C rs375042033 0.00041
NM_006939.4(SOS2):c.3744G>T (p.Trp1248Cys) rs138133010 0.00041
NM_006939.4(SOS2):c.3830T>C (p.Leu1277Pro) rs146802994 0.00041
NM_002834.5(PTPN11):c.*838G>A rs142648640 0.00035
NM_005188.4(CBL):c.1942A>C (p.Ser648Arg) rs143264567 0.00035
NM_006939.4(SOS2):c.2854G>A (p.Asp952Asn) rs200387871 0.00034
NM_030662.4(MAP2K2):c.1140C>T (p.Ala380=) rs146618055 0.00034
NM_030662.4(MAP2K2):c.893C>T (p.Pro298Leu) rs200371894 0.00034
NM_002834.5(PTPN11):c.*1805C>T rs188162577 0.00033
NM_007373.4(SHOC2):c.704-16G>T rs185614302 0.00033
NM_002880.4(RAF1):c.321-14T>A rs3730270 0.00032
NM_005188.4(CBL):c.1287C>T (p.Ile429=) rs148368481 0.00031
NM_006939.4(SOS2):c.2640A>G (p.Ser880=) rs146730136 0.00031
NM_004333.6(BRAF):c.2235A>G (p.Leu745=) rs56046546 0.00030
NM_002834.5(PTPN11):c.48A>G (p.Ala16=) rs372736227 0.00029
NM_006939.4(SOS2):c.3952C>T (p.Pro1318Ser) rs140995728 0.00029
NM_030662.4(MAP2K2):c.525C>T (p.Ile175=) rs150833333 0.00029
NM_006939.4(SOS2):c.294A>G (p.Lys98=) rs149713664 0.00027
NM_006939.4(SOS2):c.315G>T (p.Leu105=) rs141575190 0.00027
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00026
NM_152594.3(SPRED1):c.290A>G (p.Lys97Arg) rs556636985 0.00026
NM_002880.4(RAF1):c.909A>C (p.Thr303=) rs5746219 0.00025
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn) rs397507456 0.00025
NM_004333.6(BRAF):c.-5A>G rs71645936 0.00024
NM_005633.4(SOS1):c.1770G>A (p.Glu590=) rs553331572 0.00022
NM_152594.3(SPRED1):c.1226C>T (p.Ala409Val) rs751260227 0.00022
NM_002880.4(RAF1):c.125C>T (p.Ala42Val) rs11549992 0.00021
NM_007373.4(SHOC2):c.*1323C>T rs371721188 0.00021
NM_006939.4(SOS2):c.2712A>G (p.Glu904=) rs143332839 0.00020
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) rs138272051 0.00019
NM_007373.4(SHOC2):c.841+12G>A rs201258692 0.00019
NM_005633.4(SOS1):c.2964+17A>G rs201906525 0.00018
NM_005633.4(SOS1):c.87+15G>C rs375493196 0.00018
NM_006939.4(SOS2):c.3076-17A>T rs200184350 0.00018
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile) rs147204964 0.00017
NM_002880.4(RAF1):c.119G>A (p.Arg40His) rs192632236 0.00016
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_030662.4(MAP2K2):c.420C>T (p.Asp140=) rs369925884 0.00016
NM_006912.6(RIT1):c.237+10C>A rs367785615 0.00015
NM_006939.4(SOS2):c.2057+19T>A rs544924513 0.00015
NM_002880.4(RAF1):c.*556G>A rs187286358 0.00014
NM_002880.4(RAF1):c.680+6T>C rs371846795 0.00014
NM_006939.4(SOS2):c.2668-13T>C rs368749459 0.00014
NM_002880.4(RAF1):c.*404G>A rs150460686 0.00013
NM_002880.4(RAF1):c.94A>G (p.Ile32Val) rs372738063 0.00013
NM_005633.4(SOS1):c.214-10A>G rs371447614 0.00013
NM_006939.4(SOS2):c.2625A>T (p.Ala875=) rs761442415 0.00013
NM_007373.4(SHOC2):c.*16C>A rs753327392 0.00013
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00012
NM_006767.4(LZTR1):c.351C>T (p.Pro117=) rs202066345 0.00012
NM_006939.4(SOS2):c.702G>A (p.Leu234=) rs200208472 0.00012
NM_030662.4(MAP2K2):c.581-8G>A rs369262004 0.00012
NM_002834.5(PTPN11):c.1224+15G>A rs373271861 0.00011
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_005633.4(SOS1):c.553A>G (p.Ile185Val) rs143962515 0.00010
NM_006767.4(LZTR1):c.263+7G>A rs185749722 0.00010
NM_007373.4(SHOC2):c.*1106A>C rs118172559 0.00010
NM_152594.3(SPRED1):c.26A>T (p.Asp9Val) rs200157475 0.00010
NM_002834.3(PTPN11):c.-287G>C rs377496292 0.00009
NM_006939.4(SOS2):c.2520A>G (p.Ala840=) rs775682587 0.00009
NM_006939.4(SOS2):c.3066A>G (p.Pro1022=) rs201696354 0.00009
NM_030662.4(MAP2K2):c.1020C>T (p.Pro340=) rs192389729 0.00009
NM_002834.5(PTPN11):c.1599+33A>G rs727505380 0.00008
NM_004333.6(BRAF):c.375T>G (p.Ser125=) rs201507202 0.00008
NM_007373.4(SHOC2):c.1161+9A>G rs201795589 0.00008
NM_002524.5(NRAS):c.*740G>A rs372008962 0.00007
NM_006939.4(SOS2):c.2707G>A (p.Val903Met) rs745788940 0.00007
NM_002834.5(PTPN11):c.137+35G>A rs727505387 0.00006
NM_005343.4(HRAS):c.369C>T (p.Arg123=) rs200945755 0.00006
NM_005633.4(SOS1):c.1018C>T (p.Pro340Ser) rs190222208 0.00006
NM_006767.4(LZTR1):c.21G>A (p.Thr7=) rs377622689 0.00006
NM_006912.6(RIT1):c.106+15C>T rs755316223 0.00006
NM_006939.4(SOS2):c.2605G>A (p.Val869Ile) rs373143128 0.00006
NM_006939.4(SOS2):c.2700C>T (p.Asp900=) rs369410641 0.00006
NM_006939.4(SOS2):c.2959-16A>G rs147830734 0.00006
NM_006939.4(SOS2):c.36C>T (p.Ser12=) rs377290612 0.00006
NM_006939.4(SOS2):c.720C>T (p.Ile240=) rs373852615 0.00006
NM_007373.4(SHOC2):c.1239G>T (p.Gln413His) rs200215822 0.00006
NM_007373.4(SHOC2):c.610A>G (p.Ile204Val) rs200015085 0.00006
NM_005188.4(CBL):c.1647C>A (p.Asp549Glu) rs369030902 0.00005
NM_005343.4(HRAS):c.222C>T (p.Thr74=) rs372223975 0.00005
NM_006939.4(SOS2):c.121A>G (p.Asn41Asp) rs575983927 0.00005
NM_007373.4(SHOC2):c.*20C>T rs371005619 0.00005
NM_030662.4(MAP2K2):c.1198G>A (p.Val400Met) rs533247725 0.00005
NM_030662.4(MAP2K2):c.690G>A (p.Thr230=) rs201287884 0.00005
NM_004333.6(BRAF):c.1150A>G (p.Arg384Gly) rs545495379 0.00004
NM_005343.4(HRAS):c.36C>T (p.Gly12=) rs727504424 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_005633.4(SOS1):c.1621T>C (p.Leu541=) rs371286473 0.00004
NM_006939.4(SOS2):c.338C>T (p.Ser113Leu) rs751240491 0.00004
NM_006939.4(SOS2):c.3520G>A (p.Ala1174Thr) rs935249167 0.00004
NM_006939.4(SOS2):c.3553G>T (p.Val1185Leu) rs778368766 0.00004
NM_006939.4(SOS2):c.970-19A>G rs369274700 0.00004
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg) rs397517231 0.00004
NM_152594.3(SPRED1):c.32+20C>T rs374284804 0.00004
NM_152594.3(SPRED1):c.634G>A (p.Val212Ile) rs769630742 0.00004
NM_002834.5(PTPN11):c.*3381A>G rs374962107 0.00003
NM_002834.5(PTPN11):c.824A>C (p.Asn275Thr) rs397507528 0.00003
NM_004333.6(BRAF):c.1068A>G (p.Gln356=) rs143335467 0.00003
NM_004333.6(BRAF):c.1694+14G>A rs184144181 0.00003
NM_004333.6(BRAF):c.2128-10_2128-9insC rs758588300 0.00003
NM_004333.6(BRAF):c.708C>T (p.Asn236=) rs138333692 0.00003
NM_005633.4(SOS1):c.510+9C>G rs553448375 0.00003
NM_006939.4(SOS2):c.2604C>T (p.Gly868=) rs765945171 0.00003
NM_006939.4(SOS2):c.2668-4T>C rs763298498 0.00003
NM_030662.4(MAP2K2):c.141C>T (p.Asp47=) rs201526172 0.00003
NM_006939.4(SOS2):c.3641A>T (p.Asp1214Val) rs772043913 0.00002
NM_007373.4(SHOC2):c.*914G>A rs189223963 0.00002
NM_152594.3(SPRED1):c.879G>A (p.Leu293=) rs535687467 0.00002
NM_002755.4(MAP2K1):c.804C>G (p.Ala268=) rs371652992 0.00001
NM_002834.5(PTPN11):c.*329T>C rs576039073 0.00001
NM_002834.5(PTPN11):c.1599+26G>A rs727505390 0.00001
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=) rs374896287 0.00001
NM_002834.5(PTPN11):c.951G>A (p.Lys317=) rs576405446 0.00001
NM_002880.4(RAF1):c.1141G>A (p.Asp381Asn) rs559632360 0.00001
NM_002880.4(RAF1):c.1914G>A (p.Thr638=) rs144876026 0.00001
NM_005343.4(HRAS):c.378A>G (p.Glu126=) rs397517140 0.00001
NM_005633.4(SOS1):c.3347-20T>G rs727505382 0.00001
NM_005633.4(SOS1):c.3552T>G (p.Pro1184=) rs200485215 0.00001
NM_005633.4(SOS1):c.87+9C>T rs397517179 0.00001
NM_006767.4(LZTR1):c.450C>T (p.Asn150=) rs560328641 0.00001
NM_006939.4(SOS2):c.1211C>T (p.Pro404Leu) rs201265921 0.00001
NM_006939.4(SOS2):c.1732A>G (p.Lys578Glu) rs748480687 0.00001
NM_006939.4(SOS2):c.3502T>C (p.Ser1168Pro) rs756607027 0.00001
NM_006939.4(SOS2):c.3944C>T (p.Ser1315Leu) rs865922330 0.00001
NM_152594.3(SPRED1):c.1046G>C (p.Arg349Thr) rs1221405249 0.00001
NM_152594.3(SPRED1):c.446G>A (p.Ser149Asn) rs373384814 0.00001
NM_002524.5(NRAS):c.*346G>A rs9724642
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002755.4(MAP2K1):c.694-12TC[4] rs113913469
NM_002834.3:c.1-140delG
NM_002834.5(PTPN11):c.*1536T>C rs371375321
NM_002834.5(PTPN11):c.*2629A>G rs141655134
NM_002834.5(PTPN11):c.1221A>G (p.Gly407=) rs532529560
NM_002834.5(PTPN11):c.15-38C>T rs727505378
NM_002834.5(PTPN11):c.53A>G (p.Asn18Ser) rs587778635
NM_002880.4(RAF1):c.*266C>T rs1051208
NM_002880.4(RAF1):c.*606A>G rs556460176
NM_002880.4(RAF1):c.*83C>T rs2229757
NM_002880.4(RAF1):c.-267G>A rs116247741
NM_002880.4(RAF1):c.1108+9_1108+21del rs727504451
NM_002880.4(RAF1):c.1629G>C (p.Thr543=) rs5746244
NM_002880.4(RAF1):c.1668+10_1668+11del rs730880997
NM_004333.6(BRAF):c.*111C>T rs539860876
NM_004333.6(BRAF):c.2128-16_2128-7del rs766844227
NM_004333.6(BRAF):c.2128-5dup rs373442098
NM_004333.6(BRAF):c.83GCGCCG[4] (p.28GA[4]) rs397507458
NM_005188.4(CBL):c.107ACC[8] (p.His42dup) rs373212940
NM_005633.3:c.213+15C>G
NM_005633.4(SOS1):c.*1333_*1336dup rs35969619
NM_005633.4(SOS1):c.2167+16del rs79984786
NM_005633.4(SOS1):c.2167+16dup rs79984786
NM_005633.4(SOS1):c.2511-9del rs727503436
NM_005633.4(SOS1):c.2674-22C>G rs61601281
NM_005633.4(SOS1):c.2792-50dup rs869215095
NM_005633.4(SOS1):c.2964+32T>G rs727505384
NM_006270.5(RRAS):c.454-10dup
NM_006270.5(RRAS):c.54A>T (p.Gly18=) rs571103858
NM_006767.4(LZTR1):c.321-14_321-3del rs137977968
NM_006939.4(SOS2):c.1069-6dup rs756206186
NM_006939.4(SOS2):c.1197-5del
NM_006939.4(SOS2):c.1243C>T (p.Leu415=)
NM_006939.4(SOS2):c.1263T>C (p.Asn421=) rs369267864
NM_006939.4(SOS2):c.1833A>G (p.Leu611=)
NM_006939.4(SOS2):c.1935-20C>G rs376985307
NM_006939.4(SOS2):c.2057+19_2057+20del rs111970905
NM_006939.4(SOS2):c.2057+20del rs111970905
NM_006939.4(SOS2):c.2217G>A (p.Lys739=) rs186110427
NM_006939.4(SOS2):c.2786-18_2786-17dup rs201957103
NM_006939.4(SOS2):c.2786-18dup rs201957103
NM_006939.4(SOS2):c.2786-6del rs201957103
NM_006939.4(SOS2):c.2854G>T (p.Asp952Tyr)
NM_006939.4(SOS2):c.3151A>G (p.Thr1051Ala)
NM_006939.4(SOS2):c.3338-14del rs1362501070
NM_006939.4(SOS2):c.3380-10del rs749810829
NM_006939.4(SOS2):c.3481A>G (p.Asn1161Asp)
NM_006939.4(SOS2):c.3490-13_3490-11dup rs10658395
NM_006939.4(SOS2):c.3490-13_3490-12dup rs10658395
NM_006939.4(SOS2):c.3490-13dup rs10658395
NM_006939.4(SOS2):c.3490-4del rs10658395
NM_006939.4(SOS2):c.3540TCC[4] (p.Pro1183dup) rs765097073
NM_006939.4(SOS2):c.3813G>A (p.Pro1271=) rs2227276
NM_006939.4(SOS2):c.3818G>A (p.Arg1273Gln) rs58365465
NM_006939.4(SOS2):c.3934C>A (p.Arg1312=) rs775973831
NM_006939.4(SOS2):c.3952C>G (p.Pro1318Ala)
NM_006939.4(SOS2):c.399A>C (p.Val133=) rs144584870
NM_006939.4(SOS2):c.564A>G (p.Glu188=)
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.705T>G (p.Phe235Leu)
NM_006939.4(SOS2):c.714+14del rs2139733668
NM_006939.4(SOS2):c.859-19del
NM_006939.4(SOS2):c.859-4del rs776327707
NM_006939.4(SOS2):c.934T>C (p.Leu312=)
NM_007373.4(SHOC2):c.1541-7del rs371544139
NM_007373.4(SHOC2):c.973-5del rs730881016
NM_012250.6(RRAS2):c.409-16A>T rs2303972
NM_030662.4(MAP2K2):c.705+11G>C rs202086678
NM_152594.3(SPRED1):c.*3946G>A rs8039337
NM_152594.3(SPRED1):c.1225G>T (p.Ala409Ser) rs762735151
NM_152594.3(SPRED1):c.582+22del
NM_176795.5(HRAS):c.488_507del (p.Leu163fs) rs776060230

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.