ClinVar Miner

List of variants reported as likely benign for Moyamoya syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 279
Download table as spreadsheet
HGVS dbSNP
NC_000007.14:g.140924603G>A
NM_001111.5(ADAR):c.1125C>T (p.Thr375=) rs145166589
NM_001111.5(ADAR):c.165G>T (p.Pro55=) rs570176840
NM_001111.5(ADAR):c.1725C>T (p.Ala575=) rs144279106
NM_001111.5(ADAR):c.1890C>T (p.Cys630=) rs558496566
NM_001111.5(ADAR):c.3432C>G (p.Gly1144=) rs568610646
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001111.5(ADAR):c.772G>A (p.Gly258Arg) rs201143561
NM_001142279.2(RNASEH2B):c.741+6955dup rs75254367
NM_002524.4(NRAS):c.-208T>A rs2273267
NM_002524.5(NRAS):c.*2510_*2515del rs549171175
NM_002524.5(NRAS):c.*2662G>A rs148827219
NM_002524.5(NRAS):c.*2667T>C rs145382662
NM_002524.5(NRAS):c.*2965del rs61652108
NM_002524.5(NRAS):c.*3219C>G rs72994441
NM_002524.5(NRAS):c.*3366G>T rs72994440
NM_002524.5(NRAS):c.*3384C>T rs140049110
NM_002524.5(NRAS):c.*346G>A rs9724642
NM_002524.5(NRAS):c.*3499C>T rs147926293
NM_002524.5(NRAS):c.*416A>C rs9724643
NM_002524.5(NRAS):c.*740G>A rs372008962
NM_002524.5(NRAS):c.*872C>T rs14804
NM_002755.3(MAP2K1):c.-216_-215dupCG rs141005341
NM_002755.3(MAP2K1):c.-2A>G rs77796976
NM_002755.3(MAP2K1):c.-31dup rs730880340
NM_002755.3(MAP2K1):c.-408G>T rs536414539
NM_002755.3(MAP2K1):c.-448C>T rs73469977
NM_002755.3(MAP2K1):c.-85G>C rs112542693
NM_002755.3(MAP2K1):c.1023-8C>T rs41306345
NM_002755.3(MAP2K1):c.1072C>T
NM_002755.3(MAP2K1):c.322C>T
NM_002755.3(MAP2K1):c.577C>G
NM_002755.3(MAP2K1):c.694-12TC[4] rs113913469
NM_002755.3(MAP2K1):c.872G>A
NM_002755.3(MAP2K1):c.927A>T (p.Ala309=) rs146869577
NM_002834.4(PTPN11):c.*1006del rs146940557
NM_002834.4(PTPN11):c.*1157_*1159ATG[14] rs80269561
NM_002834.4(PTPN11):c.*1374G>C rs139266170
NM_002834.4(PTPN11):c.*2927T>A rs190612693
NM_002834.4(PTPN11):c.*670G>A rs112287134
NM_002834.4(PTPN11):c.-273G>A rs58805176
NM_002834.4(PTPN11):c.1093-9C>A rs12301915
NM_002834.4(PTPN11):c.1174G>A (p.Ala392Thr) rs774356443
NM_002834.4(PTPN11):c.1620C>T (p.His540=) rs587781132
NM_002834.4(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.4(PTPN11):c.255C>T (p.His85=) rs61736914
NM_002834.4(PTPN11):c.933+25T>C rs727505386
NM_002880.3(RAF1):c.*160C>T rs5746246
NM_002880.3(RAF1):c.*266C>T rs1051208
NM_002880.3(RAF1):c.*348T>C rs5746247
NM_002880.3(RAF1):c.*83C>T rs2229757
NM_002880.3(RAF1):c.-281C>G rs61761285
NM_002880.3(RAF1):c.-415-1C>G rs61730434
NM_002880.3(RAF1):c.1669-13T>C rs147475396
NM_002880.3(RAF1):c.1755A>G (p.Val585=) rs3730296
NM_002880.3(RAF1):c.1914G>A (p.Thr638=) rs144876026
NM_002880.3(RAF1):c.321-14T>A rs3730270
NM_002880.3(RAF1):c.321-21dup rs202103447
NM_002880.3(RAF1):c.923C>T (p.Pro308Leu) rs5746220
NM_004333.6(BRAF):c.*111C>T rs539860876
NM_004333.6(BRAF):c.*387G>A rs114105685
NM_004333.6(BRAF):c.-19C>T rs71645935
NM_004333.6(BRAF):c.-5A>G rs71645936
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val) rs201481342
NM_004333.6(BRAF):c.1068A>G (p.Gln356=) rs143335467
NM_004333.6(BRAF):c.1227A>G (p.Ser409=) rs145035762
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.1694+14G>A rs184144181
NM_004333.6(BRAF):c.2128-5del rs373442098
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.375T>G (p.Ser125=) rs201507202
NM_004333.6(BRAF):c.708C>T (p.Asn236=) rs138333692
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_004985.5(KRAS):c.*1062G>A rs61763591
NM_004985.5(KRAS):c.*1083A>G rs7960917
NM_004985.5(KRAS):c.*1418_*1420del rs200038818
NM_004985.5(KRAS):c.*1540T>C rs61764366
NM_004985.5(KRAS):c.*1587T>C rs7973450
NM_004985.5(KRAS):c.*1627dup rs71065923
NM_004985.5(KRAS):c.*1637_*1638del rs535478558
NM_004985.5(KRAS):c.*1638A>G rs4597149
NM_004985.5(KRAS):c.*1655C>T rs7973623
NM_004985.5(KRAS):c.*1765T>C rs115968671
NM_004985.5(KRAS):c.*177T>G rs712
NM_004985.5(KRAS):c.*2184A>G rs61764368
NM_004985.5(KRAS):c.*2279dup rs56128001
NM_004985.5(KRAS):c.*2371C>T rs61764369
NM_004985.5(KRAS):c.*2505T>G rs61764370
NM_004985.5(KRAS):c.*2888A>G rs13096
NM_004985.5(KRAS):c.*3152G>A rs61764371
NM_004985.5(KRAS):c.*3264del rs34176876
NM_004985.5(KRAS):c.*3377C>T rs1137188
NM_004985.5(KRAS):c.*3401T>A rs1137189
NM_004985.5(KRAS):c.*3502T>A rs61764372
NM_004985.5(KRAS):c.*3683dup rs142323886
NM_004985.5(KRAS):c.*3760A>C rs1137196
NM_004985.5(KRAS):c.*3786A>G rs8720
NM_004985.5(KRAS):c.*3901A>C rs12587
NM_004985.5(KRAS):c.*404T>C rs140080026
NM_004985.5(KRAS):c.*4065_*4066del rs34719539
NM_004985.5(KRAS):c.*4079T>A rs12245
NM_004985.5(KRAS):c.*4305_*4306dup rs61764373
NM_004985.5(KRAS):c.*4311A>G rs61764374
NM_004985.5(KRAS):c.*512T>C rs9266
NM_004985.5(KRAS):c.*824T>C rs61763589
NM_004985.5(KRAS):c.*973G>T rs61763590
NM_004985.5(KRAS):c.451-9G>A rs12313763
NM_004985.5(KRAS):c.490C>T (p.Arg164Ter) rs1555192443
NM_004985.5(KRAS):c.519T>C (p.Asp173=) rs1137282
NM_005343.4(HRAS):c.102C>T (p.Pro34=) rs149199691
NM_005343.4(HRAS):c.112-10C>T rs727503092
NM_005343.4(HRAS):c.120C>T (p.Tyr40=) rs763920334
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.156G>T (p.Leu52=) rs1060504681
NM_005343.4(HRAS):c.16C>T (p.Leu6=) rs763376142
NM_005343.4(HRAS):c.177C>T (p.Ala59=) rs730880456
NM_005343.4(HRAS):c.219C>T (p.Arg73=) rs749870259
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.290+9C>T rs747854581
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.330C>T (p.Pro110=) rs200747280
NM_005343.4(HRAS):c.339G>A (p.Leu113=) rs878854759
NM_005343.4(HRAS):c.358C>T (p.Leu120=) rs397517139
NM_005343.4(HRAS):c.363T>C (p.Ala121=) rs146440188
NM_005343.4(HRAS):c.411C>T (p.Tyr137=) rs1471385417
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.441G>A (p.Lys147=) rs777386438
NM_005343.4(HRAS):c.451-4C>T
NM_005343.4(HRAS):c.451-5C>G rs370181298
NM_005343.4(HRAS):c.451-5C>T rs370181298
NM_005343.4(HRAS):c.474G>A (p.Thr158=) rs747269683
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.519T>G (p.Pro173=) rs759004302
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) rs397517144
NM_005343.4(HRAS):c.534C>G (p.Gly178=) rs770431635
NM_005343.4(HRAS):c.537C>T (p.Pro179=) rs371316832
NM_005343.4(HRAS):c.54G>A (p.Ala18=) rs148380285
NM_005343.4(HRAS):c.96C>T (p.Tyr32=) rs369039481
NM_005633.3(SOS1):c.*1333_*1336dup rs35969619
NM_005633.3(SOS1):c.*1606del rs34248802
NM_005633.3(SOS1):c.*1731A>G rs79270739
NM_005633.3(SOS1):c.*1844A>G rs10166395
NM_005633.3(SOS1):c.*2244_*2245dup rs3832123
NM_005633.3(SOS1):c.*2439del rs377250198
NM_005633.3(SOS1):c.*2567T>A rs6704656
NM_005633.3(SOS1):c.*328A>G rs1059310
NM_005633.3(SOS1):c.*3539T>C rs1037495
NM_005633.3(SOS1):c.*3592C>T rs550315455
NM_005633.3(SOS1):c.*3724T>C rs11124658
NM_005633.3(SOS1):c.*3918T>C rs1043793
NM_005633.3(SOS1):c.*399_*400insCA rs144104838
NM_005633.3(SOS1):c.*805C>A rs1059313
NM_005633.3(SOS1):c.1074+5G>C rs145155424
NM_005633.3(SOS1):c.1230G>A (p.Gln410=) rs141390073
NM_005633.3(SOS1):c.195A>C (p.Arg65=) rs7609455
NM_005633.3(SOS1):c.2122G>A (p.Ala708Thr) rs140811086
NM_005633.3(SOS1):c.2511-13_2511-9del rs727503436
NM_005633.3(SOS1):c.3391+7A>G rs201982464
NM_005633.3(SOS1):c.396A>T (p.Ala132=) rs727505385
NM_006031.6(PCNT):c.406G>A (p.Gly136Ser) rs59183158
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601
NM_006031.6(PCNT):c.467_505del (p.His156_Gln168del) rs587784306
NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup) rs587784306
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=) rs60444527
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783
NM_006031.6(PCNT):c.8752-5A>C rs149444205
NM_006049.4(SNAPC5):c.22-206G>T rs14303
NM_006049.4(SNAPC5):c.22-323C>A rs56366941
NM_006049.4(SNAPC5):c.22-555C>T rs8684
NM_006270.5(RRAS):c.154-4C>G rs372925843
NM_006270.5(RRAS):c.174C>T (p.Tyr58=) rs145282813
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.362A>G (p.Lys121Arg) rs138124318
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.454-9T>C rs1490597941
NM_006270.5(RRAS):c.568G>C (p.Val190Leu) rs2230917
NM_006270.5(RRAS):c.600G>A (p.Pro200=) rs183538580
NM_006397.2(RNASEH2A):c.*120C>T rs73925216
NM_006397.2(RNASEH2A):c.-16T>C rs1046220
NM_006397.2(RNASEH2A):c.33A>G (p.Thr11=) rs11554400
NM_006397.2(RNASEH2A):c.36C>T (p.Gly12=) rs375139492
NM_006397.2(RNASEH2A):c.417C>T (p.Phe139=) rs201413125
NM_006397.2(RNASEH2A):c.462G>A (p.Gln154=) rs7257575
NM_006397.2(RNASEH2A):c.465A>G (p.Gln155=) rs758492414
NM_006397.2(RNASEH2A):c.550-11T>C rs7247253
NM_006397.2(RNASEH2A):c.605T>C (p.Leu202Ser) rs7247284
NM_006397.2(RNASEH2A):c.615T>A (p.Asp205Glu) rs62619782
NM_006397.2(RNASEH2A):c.637+13G>A rs73503453
NM_006397.2(RNASEH2A):c.662A>G (p.Lys221Arg) rs143534021
NM_006397.2(RNASEH2A):c.777C>T (p.Ser259=) rs76634951
NM_006912.6(RIT1):c.237+10C>A rs367785615
NM_006912.6(RIT1):c.393T>C (p.Leu131=) rs34974790
NM_006939.4(SOS2):c.1071A>G (p.Gln357=) rs111961549
NM_006939.4(SOS2):c.1176T>C (p.Tyr392=) rs1555370242
NM_006939.4(SOS2):c.1198G>A (p.Asp400Asn) rs200368064
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.2154T>C (p.Ser718=) rs568511771
NM_006939.4(SOS2):c.2162-10C>T rs375702667
NM_006939.4(SOS2):c.2217G>A (p.Lys739=) rs186110427
NM_006939.4(SOS2):c.2268T>G (p.Pro756=) rs1555369534
NM_006939.4(SOS2):c.2317G>C (p.Asp773His) rs114711076
NM_006939.4(SOS2):c.2604C>T (p.Gly868=) rs765945171
NM_006939.4(SOS2):c.2640A>G (p.Ser880=) rs146730136
NM_006939.4(SOS2):c.2854G>A (p.Asp952Asn) rs200387871
NM_006939.4(SOS2):c.3088A>G (p.Thr1030Ala) rs550680554
NM_006939.4(SOS2):c.3250A>G (p.Thr1084Ala) rs150752193
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.3830T>C (p.Leu1277Pro) rs146802994
NM_006939.4(SOS2):c.3952C>T (p.Pro1318Ser) rs140995728
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578
NM_006939.4(SOS2):c.600T>C (p.Tyr200=) rs766470992
NM_006939.4(SOS2):c.837C>T (p.Ser279=) rs542617984
NM_006939.4(SOS2):c.859-10A>T rs761341096
NM_015474.3(SAMHD1):c.-110T>C rs28372906
NM_015474.3(SAMHD1):c.-166G>T rs546207604
NM_015474.3(SAMHD1):c.-31T>C rs142162198
NM_015474.3(SAMHD1):c.-39C>A rs368233437
NM_015474.3(SAMHD1):c.1593G>C (p.Arg531Ser) rs145735112
NM_015474.3(SAMHD1):c.1692C>T (p.Ala564=) rs200856791
NM_015474.3(SAMHD1):c.195G>T (p.Leu65=) rs202024857
NM_015474.3(SAMHD1):c.334G>A (p.Val112Ile) rs144353824
NM_015474.3(SAMHD1):c.77C>T (p.Pro26Leu) rs147240777
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr) rs150317197
NM_022168.4(IFIH1):c.1097T>A (p.Val366Glu) rs140977021
NM_022168.4(IFIH1):c.1121G>A (p.Arg374His) rs145520044
NM_022168.4(IFIH1):c.1583T>G (p.Leu528Arg) rs142348767
NM_022168.4(IFIH1):c.1965T>A (p.Asp655Glu) rs144274375
NM_022168.4(IFIH1):c.2016_2019AGAT[1] (p.Arg674fs) rs569337014
NM_022168.4(IFIH1):c.2105C>T (p.Thr702Ile) rs72650663
NM_022168.4(IFIH1):c.2196T>C (p.Tyr732=) rs147175706
NM_022168.4(IFIH1):c.2361C>T (p.Ile787=) rs35677292
NM_022168.4(IFIH1):c.2937G>A (p.Leu979=) rs372007025
NM_022168.4(IFIH1):c.329C>G (p.Ala110Gly)
NM_022168.4(IFIH1):c.436A>G (p.Ile146Val) rs146721166
NM_024570.3(RNASEH2B):c.-210G>C rs112702177
NM_024570.3(RNASEH2B):c.156G>A (p.Leu52=) rs35416748
NM_024570.3(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037
NM_024570.3(RNASEH2B):c.822+6T>C rs76413207
NM_024570.3(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326
NM_030662.3(MAP2K2):c.1187C>T (p.Thr396Met) rs117945277
NM_030662.3(MAP2K2):c.149A>G
NM_030662.3(MAP2K2):c.325C>G (p.Pro109Ala) rs1060502983
NM_032193.3(RNASEH2C):c.-10A>G rs77371161
NM_032193.3(RNASEH2C):c.265_267AAG[1] (p.Lys90del) rs141875736
NM_032193.3(RNASEH2C):c.417C>G (p.Gly139=) rs147021687
NM_032193.3(RNASEH2C):c.468+13G>A rs182000627
NM_032193.3(RNASEH2C):c.468G>T (p.Ala156=) rs61736590
NM_033629.6(TREX1):c.-60C>T rs2279076
NM_033629.6(TREX1):c.183G>A (p.Pro61=) rs55852466
NM_033629.6(TREX1):c.198G>A (p.Lys66=) rs3135943
NM_033629.6(TREX1):c.394C>G (p.Pro132Ala) rs200510205
NM_033629.6(TREX1):c.462T>C (p.Asp154=) rs3135944
NM_033629.6(TREX1):c.484C>T (p.Leu162=) rs1553820257
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987
NM_080628.3(TLDC2):c.*28T>C rs45595032
NM_080628.3(TLDC2):c.*43G>A rs115645414
NM_080628.3(TLDC2):c.18-1G>T rs138927042
NM_080628.3(TLDC2):c.18-218T>C rs114791229
NM_080628.3(TLDC2):c.18-25A>G rs147220022
NM_080628.3(TLDC2):c.18-938G>C rs116489517
NM_130384.3(ATRIP):c.*267T>C rs148393533
NM_130384.3(ATRIP):c.*272del rs3135939
NM_130384.3(ATRIP):c.*665C>T rs548710061
NM_182710.3(KAT5):c.1264+704G>A rs4645934
NM_182710.3(KAT5):c.1265-428T>C rs373799308
NM_182710.3(KAT5):c.1265-583G>A rs4645936
NM_182710.3(KAT5):c.1425-36dup rs142614068

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