ClinVar Miner

List of variants reported as likely pathogenic for Moyamoya syndrome

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 130
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HGVS dbSNP
NC_000020.10:g.(?_35539601)_(35547942_?)dup
NM_000518.5(HBB):c.-138C>A rs33944208
NM_001111.5(ADAR):c.2608G>A (p.Ala870Thr) rs398122893
NM_001111.5(ADAR):c.2615T>C (p.Ile872Thr) rs398122897
NM_001111.5(ADAR):c.2675G>A (p.Arg892His) rs398122892
NM_001111.5(ADAR):c.2997G>T (p.Lys999Asn) rs398122896
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.3215G>T (p.Ser1072Ile) rs1553207540
NM_001111.5(ADAR):c.3335A>T (p.Tyr1112Phe) rs398122895
NM_001111.5(ADAR):c.3337G>C (p.Asp1113His) rs398122894
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_002755.3(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.3(MAP2K1):c.608A>G rs727503996
NM_002834.4(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.4(PTPN11):c.166A>G (p.Ile56Val) rs397507504
NM_002834.4(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.4(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.4(PTPN11):c.182A>C (p.Asp61Ala) rs121918461
NM_002834.4(PTPN11):c.206A>T (p.Glu69Val) rs727503380
NM_002834.4(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.4(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.4(PTPN11):c.214G>C (p.Ala72Pro) rs121918453
NM_002834.4(PTPN11):c.235C>A (p.Gln79Lys) rs397516803
NM_002834.4(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002834.4(PTPN11):c.774G>T (p.Glu258Asp) rs397516809
NM_002834.4(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002834.4(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002834.4(PTPN11):c.802G>T (p.Gly268Cys) rs397507527
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.4(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002834.4(PTPN11):c.959A>G (p.Asn320Ser) rs1398859175
NM_002880.3(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_002880.3(RAF1):c.1172G>T (p.Arg391Met) rs587782972
NM_002880.3(RAF1):c.1423T>C (p.Phe475Leu) rs730881003
NM_002880.3(RAF1):c.1457A>G (p.Asp486Gly) rs397516815
NM_002880.3(RAF1):c.1472C>T (p.Thr491Ile) rs80338799
NM_002880.3(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.3(RAF1):c.285C>G (p.Cys95Trp) rs727503384
NM_002880.3(RAF1):c.452T>C (p.Phe151Ser) rs587782971
NM_002880.3(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_002880.3(RAF1):c.768G>C (p.Arg256Ser) rs397516826
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.3(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_002880.3(RAF1):c.775T>C (p.Ser259Pro) rs3730271
NM_002880.3(RAF1):c.776C>T (p.Ser259Phe) rs397516827
NM_002880.3(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_002880.3(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_002880.3(RAF1):c.782C>T (p.Pro261Leu) rs397516828
NM_002880.3(RAF1):c.788T>A (p.Val263Asp) rs397516830
NM_002880.3(RAF1):c.788T>C (p.Val263Ala) rs397516830
NM_002880.3(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_004333.6(BRAF):c.1387A>G (p.Ile463Val) rs1562957000
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1409C>G (p.Thr470Arg) rs397516891
NM_004333.6(BRAF):c.1449A>C (p.Lys483Asn) rs727504375
NM_004333.6(BRAF):c.1513C>T (p.Leu505Phe) rs397507477
NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys) rs397516895
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) rs727502904
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) rs397516903
NM_004333.6(BRAF):c.739T>G (p.Phe247Val) rs397516903
NM_004333.6(BRAF):c.741T>G (p.Phe247Leu) rs397509343
NM_004333.6(BRAF):c.769C>A (p.Gln257Lys) rs397507469
NM_004333.6(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) rs193929331
NM_004985.5(KRAS):c.179G>T (p.Gly60Val) rs727503108
NM_004985.5(KRAS):c.194G>T (p.Ser65Ile) rs1555194026
NM_004985.5(KRAS):c.454G>T (p.Val152Phe) rs397517041
NM_004985.5(KRAS):c.458A>G (p.Asp153Gly) rs104894360
NM_004985.5(KRAS):c.466T>G (p.Phe156Val) rs397517042
NM_005188.3(CBL):c.1096-4_1096-1del rs397517077
NM_005188.3(CBL):c.1099C>A (p.Gln367Lys) rs727504504
NM_005188.3(CBL):c.1228-2A>G rs727504426
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) rs727503093
NM_005343.4(HRAS):c.175_176delinsCT (p.Ala59Leu) rs727504747
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) rs28933406
NM_005343.4(HRAS):c.183G>T (p.Gln61His) rs121913496
NM_005343.4(HRAS):c.35_36delinsAA (p.Gly12Glu) rs727503094
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005343.4(HRAS):c.64C>A (p.Gln22Lys) rs121917757
NM_005633.3(SOS1):c.1132A>G (p.Thr378Ala) rs397517146
NM_005633.3(SOS1):c.1293_1294delinsGA
NM_005633.3(SOS1):c.1867T>G (p.Phe623Val) rs727505093
NM_005633.3(SOS1):c.2183A>T (p.Lys728Ile) rs397517156
NM_005633.3(SOS1):c.2197A>T (p.Ile733Phe) rs574088829
NM_005633.3(SOS1):c.2671G>A (p.Glu891Lys) rs1553353452
NM_005633.3(SOS1):c.3022T>C (p.Tyr1008His) rs397517163
NM_005633.3(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_005633.3(SOS1):c.335C>G (p.Pro112Arg) rs397517166
NM_005633.3(SOS1):c.512T>C (p.Val171Ala) rs397517174
NM_006031.6(PCNT):c.2155-21_2186del rs1555959737
NM_006031.6(PCNT):c.4366C>T (p.Gln1456Ter) rs1569249386
NM_006031.6(PCNT):c.9715C>T (p.Gln3239Ter) rs1474939581
NM_006397.2(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971
NM_006397.2(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu) rs148677674
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276
NM_006912.6(RIT1):c.151G>T (p.Asp51Tyr) rs869025190
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.251C>T (p.Ala84Val) rs869025196
NM_006939.4(SOS2):c.1126A>T (p.Thr376Ser)
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
NM_015474.3(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088
NM_022168.4(IFIH1):c.1517T>A (p.Ile506Asn) rs1320095792
NM_022168.4(IFIH1):c.2936T>G (p.Leu979Trp) rs1553696482
NM_022168.4(IFIH1):c.716dup (p.Met240fs) rs1558875029
NM_022168.4(IFIH1):c.986T>C (p.Leu329Pro)
NM_024570.3(RNASEH2B):c.179T>G (p.Leu60Arg)
NM_024570.3(RNASEH2B):c.488C>T (p.Thr163Ile)
NM_024570.3(RNASEH2B):c.510+1delG
NM_024570.3(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_030662.3(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_030662.3(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_032193.3(RNASEH2C):c.178dup (p.Glu60fs) rs772940104
NM_032193.3(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_033360.4(KRAS):c.458A>T (p.Glu153Val)
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) rs760838030
NM_033629.6(TREX1):c.397del (p.Leu133fs) rs78762691
NM_033629.6(TREX1):c.829A>T (p.Lys277Ter) rs1553820518

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