ClinVar Miner

List of variants reported as pathogenic for basal ganglia disorder by OMIM

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 172
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HGVS dbSNP gnomAD frequency
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_007262.5(PARK7):c.446A>C (p.Asp149Ala) rs74315352 0.00061
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686 0.00009
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu) rs121434410 0.00009
NM_000345.4(SNCA):c.150T>G (p.His50Gln) rs201106962 0.00007
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065 0.00007
NM_032409.3(PINK1):c.836G>A (p.Arg279His) rs74315358 0.00007
NM_004562.3(PRKN):c.167T>A (p.Val56Glu) rs137853059 0.00006
NM_022089.4(ATP13A2):c.2629G>A (p.Gly877Arg) rs144701072 0.00004
NM_032409.3(PINK1):c.1040T>C (p.Leu347Pro) rs28940285 0.00004
NM_032409.3(PINK1):c.1366C>T (p.Gln456Ter) rs45539432 0.00004
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687 0.00003
NM_021219.4(JAM2):c.323G>A (p.Arg108His) rs1383641309 0.00003
NM_198578.4(LRRK2):c.4321C>T (p.Arg1441Cys) rs33939927 0.00003
NM_004562.3(PRKN):c.633A>T (p.Lys211Asn) rs137853060 0.00002
NM_016139.4(CHCHD2):c.300+5G>A rs750014782 0.00002
NM_021219.4(JAM2):c.685C>T (p.Arg229Ter) rs781261918 0.00002
NM_001044.5(SLC6A3):c.1184C>T (p.Pro395Leu) rs267607069 0.00001
NM_001044.5(SLC6A3):c.1269+1G>A rs431905504 0.00001
NM_001044.5(SLC6A3):c.1561C>T (p.Arg521Trp) rs431905516 0.00001
NM_001256864.2(DNAJC6):c.2223A>T (p.Thr741=) rs879255554 0.00001
NM_002608.4(PDGFB):c.433C>T (p.Gln145Ter) rs397515631 0.00001
NM_002609.4(PDGFRB):c.2959C>T (p.Arg987Trp) rs397509382 0.00001
NM_004562.3(PRKN):c.635G>A (p.Cys212Tyr) rs137853058 0.00001
NM_007262.5(PARK7):c.192G>C (p.Glu64Asp) rs74315353 0.00001
NM_020702.5(MYORG):c.225G>A (p.Trp75Ter) rs760451348 0.00001
NM_021219.4(JAM2):c.395-1dup rs751103286 0.00001
NM_032409.3(PINK1):c.1311G>A (p.Trp437Ter) rs74315356 0.00001
NM_032409.3(PINK1):c.938C>T (p.Thr313Met) rs74315359 0.00001
NM_198578.4(LRRK2):c.4322G>A (p.Arg1441His) rs34995376 0.00001
NM_203446.3(SYNJ1):c.656G>A (p.Arg219Gln) rs398122403 0.00001
GRCh38/hg38 4q22.1(chr4:88504598-90127832)x3
I655T
NC_000004.12:g.(?_89724098)_(89927969_89934809)dup
NG_032161.2:g.(87059_102191)_(118197_128986)del
NG_050658.1:g.(5235_69181)_(69440_100126)del
NM_000345.4(SNCA):c.152G>A (p.Gly51Asp) rs431905511
NM_000345.4(SNCA):c.157G>A (p.Ala53Thr) rs104893877
NM_000345.4(SNCA):c.88G>C (p.Ala30Pro) rs104893878
NM_001044.5(SLC6A3):c.1031+1G>A rs431905514
NM_001044.5(SLC6A3):c.1103T>A (p.Leu368Gln) rs267607068
NM_001044.5(SLC6A3):c.671T>C (p.Leu224Pro) rs431905515
NM_001256864.2(DNAJC6):c.2410C>T (p.Gln804Ter) rs398122405
NM_001256864.2(DNAJC6):c.2536C>T (p.Gln846Ter) rs886039854
NM_001256864.2(DNAJC6):c.2779A>G (p.Arg927Gly) rs879255630
NM_001256864.2(DNAJC6):c.801-2A>G rs398122404
NM_001257180.2(SLC20A2):c.1492G>A (p.Gly498Arg) rs1586022262
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys) rs387906653
NM_001257180.2(SLC20A2):c.1784C>T (p.Thr595Met) rs387906654
NM_001257180.2(SLC20A2):c.1802C>G (p.Ser601Trp) rs387906652
NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu) rs387906652
NM_001257180.2(SLC20A2):c.1828_1831del (p.Ser610fs) rs398122396
NM_001257180.2(SLC20A2):c.509del (p.Ile169_Leu170insTer) rs398122395
NM_001257180.2(SLC20A2):c.583_584del (p.Val195fs) rs398122397
NM_002608.4(PDGFB):c.356T>C (p.Leu119Pro) rs397515632
NM_002608.4(PDGFB):c.3G>A (p.Met1Ile) rs398122399
NM_002608.4(PDGFB):c.445C>T (p.Arg149Ter) rs397515633
NM_002608.4(PDGFB):c.726G>C (p.Ter242Tyr) rs398122398
NM_002609.4(PDGFRB):c.1973T>C (p.Leu658Pro) rs397509381
NM_003054.6(SLC18A2):c.1160C>T (p.Pro387Leu) rs1392638187
NM_003054.6(SLC18A2):c.216dup (p.Asp73fs)
NM_003054.6(SLC18A2):c.240_244del (p.Ser80_Tyr81insTer)
NM_003054.6(SLC18A2):c.33G>A (p.Trp11Ter) rs2133723906
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His) rs767337086
NM_003054.6(SLC18A2):c.946C>G (p.Pro316Ala) rs1589981178
NM_003365.3(UQCRC1):c.931A>C (p.Ile311Leu) rs2107843274
NM_003365.3(UQCRC1):c.941A>C (p.Tyr314Ser) rs780978963
NM_003365.3(UQCRC1):c.[70-1G>A;73dup]
NM_003560.4(PLA2G6):c.1354C>T (p.Gln452Ter) rs387906864
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln) rs387906863
NM_003560.4(PLA2G6):c.216C>A (p.Phe72Leu) rs774631197
NM_003560.4(PLA2G6):c.991G>T (p.Asp331Tyr) rs199935023
NM_003690.5(PRKRA):c.267_268del (p.His89fs) rs730880307
NM_003719.5(PDE8B):c.94_95delinsC (p.Val32fs) rs2149371451
NM_004082.5(DCTN1):c.211G>A (p.Gly71Arg) rs72466485
NM_004082.5(DCTN1):c.212G>A (p.Gly71Glu) rs67586389
NM_004082.5(DCTN1):c.221A>C (p.Gln74Pro) rs72466487
NM_004562.2(PRKN):c.172-?_871+?del
NM_004562.2(PRKN):c.413-?_534+?del
NM_004562.2(PRKN):c.735-?_871+?del
NM_004562.2(PRKN):c.8-?_171+?del
NM_004562.2(PRKN):c.872-?_1083+?del
NM_004562.3(PRKN):c.101del (p.Gln34fs) rs748142049
NM_004562.3(PRKN):c.1292G>T (p.Cys431Phe) rs397514694
NM_004562.3(PRKN):c.1358G>A (p.Trp453Ter) rs137853056
NM_004562.3(PRKN):c.155del (p.Asn52fs) rs754809877
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu) rs55774500
NM_004562.3(PRKN):c.483A>T (p.Lys161Asn) rs137853057
NM_004562.3(PRKN):c.7+1G>T rs397518439
NM_004562.3(PRKN):c.719C>G (p.Thr240Arg) rs137853054
NM_004562.3(PRKN):c.931C>T (p.Gln311Ter) rs137853055
NM_004562.3(PRKN):c.971del (p.Val324fs) rs1562519380
NM_004562.3:c.536_735del
NM_004736.4(XPR1):c.407G>A (p.Ser136Asn) rs786205902
NM_004736.4(XPR1):c.419T>C (p.Leu140Pro) rs786205903
NM_004736.4(XPR1):c.434T>C (p.Leu145Pro) rs786205901
NM_004736.4(XPR1):c.653T>C (p.Leu218Ser) rs786205904
NM_005216.4(DDOST):c.*807_*5409del
NM_005765.3(ATP6AP2):c.345C>T (p.Ser115=) rs397518480
NM_007262.4(PARK7):c.[-24+75_-24+92dup;487G>A]
NM_007262.5(PARK7):c.497T>C (p.Leu166Pro) rs28938172
NM_007262.5(PARK7):c.78G>A (p.Met26Ile) rs74315351
NM_012179.4(FBXO7):c.1132C>G (p.Arg378Gly) rs71799110
NM_012179.4(FBXO7):c.1144+1G>T rs730880272
NM_012179.4(FBXO7):c.1492C>T (p.Arg498Ter) rs121918304
NM_012179.4(FBXO7):c.65C>T (p.Thr22Met) rs121918305
NM_015836.4(WARS2):c.149G>A (p.Gly50Asp) rs1571323203
NM_015836.4(WARS2):c.295CTT[1] (p.Leu100del) rs772867219
NM_015836.4(WARS2):c.622G>T (p.Glu208Ter) rs137890886
NM_015836.4(WARS2):c.683C>G (p.Ser228Trp) rs1647600390
NM_016139.4(CHCHD2):c.182C>T (p.Thr61Ile) rs864309650
NM_016139.4(CHCHD2):c.434G>A (p.Arg145Gln) rs752169833
NM_018206.6(VPS35):c.1858G>A (p.Asp620Asn) rs188286943
NM_018713.3(SLC30A10):c.1235del (p.Gln412fs) rs281860292
NM_018713.3(SLC30A10):c.266T>C (p.Leu89Pro) rs281860284
NM_018713.3(SLC30A10):c.314_322del (p.Ala105_Pro107del) rs281860285
NM_018713.3(SLC30A10):c.507del (p.Pro170fs) rs281860287
NM_018713.3(SLC30A10):c.585del (p.Thr196fs) rs281860288
NM_020702.5(MYORG):c.1057GAC[1] (p.Asp354del) rs1180204613
NM_020702.5(MYORG):c.1233del (p.Phe411fs) rs1563981857
NM_020702.5(MYORG):c.1321C>G (p.Arg441Gly) rs749427106
NM_020702.5(MYORG):c.1333C>T (p.Gln445Ter) rs1563981743
NM_020702.5(MYORG):c.607C>T (p.Gln203Ter) rs1563982489
NM_020702.5(MYORG):c.695C>T (p.Ser232Leu) rs757434146
NM_020702.5(MYORG):c.782_783delinsTT (p.Arg261Leu) rs1563982307
NM_020821.3(VPS13C):c.4165G>C (p.Gly1389Arg) rs369100678
NM_020821.3(VPS13C):c.4777del (p.Gln1593fs) rs869312811
NM_020821.3(VPS13C):c.802_805dup (p.Arg269fs) rs869320761
NM_020821.3(VPS13C):c.8445+2T>G rs869312809
NM_020821.3(VPS13C):c.9568G>T (p.Glu3190Ter) rs869312810
NM_021219.4(JAM2):c.143del (p.Ile47_Leu48insTer) rs1601038626
NM_021219.4(JAM2):c.177_180del (p.Ser59_Arg60insTer) rs1601038704
NM_021219.4(JAM2):c.1A>G (p.Met1Val) rs1600978441
NM_021219.4(JAM2):c.504G>C (p.Trp168Cys) rs1230941179
NM_021219.4:(67+1_68-1)_(394+1_395-1)del
NM_022089.4(ATP13A2):c.1101_1102dup (p.Thr368fs) rs762033589
NM_022089.4(ATP13A2):c.1306+5G>A rs786205056
NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg) rs121918227
NM_022089.4(ATP13A2):c.1633_1654dup (p.Leu552fs) rs2100817106
NM_022089.4(ATP13A2):c.2552_2553del (p.Phe851fs) rs587776890
NM_022089.4(ATP13A2):c.2561T>G (p.Met854Arg) rs587777053
NM_032409.3(PINK1):c.1570_1573dup (p.Asp525fs) rs730880302
NM_032409.3(PINK1):c.1597CAA[3] (p.Gln534dup) rs750664040
NM_032409.3(PINK1):c.650C>A (p.Ala217Asp) rs74315360
NM_032409.3(PINK1):c.736C>T (p.Arg246Ter) rs74315357
NM_032409.3(PINK1):c.813C>A (p.His271Gln) rs28940284
NM_032409.3(PINK1):c.926G>A (p.Gly309Asp) rs74315355
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
NM_152296.5(ATP1A3):c.2273T>G (p.Ile758Ser) rs80356535
NM_152296.5(ATP1A3):c.2338T>C (p.Phe780Leu) rs80356536
NM_152296.5(ATP1A3):c.2401G>T (p.Asp801Tyr) rs80356537
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.5(ATP1A3):c.3035ACT[3] (p.Tyr1013dup) rs397515382
NM_152296.5(ATP1A3):c.821T>C (p.Ile274Thr) rs80356532
NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys) rs80356533
NM_152296.5(ATP1A3):c.946G>A (p.Gly316Ser) rs869320661
NM_171998.4(RAB39B):c.503C>A (p.Thr168Lys) rs587777874
NM_171998.4(RAB39B):c.574G>A (p.Gly192Arg) rs864309527
NM_178000.3(PTPA):c.407C>A (p.Ala136Asp)
NM_178000.3(PTPA):c.788T>G (p.Met263Arg)
NM_198578.4(LRRK2):c.3364A>G (p.Ile1122Val) rs34805604
NM_198578.4(LRRK2):c.4321C>G (p.Arg1441Gly) rs33939927
NM_198578.4(LRRK2):c.5096A>G (p.Tyr1699Cys) rs35801418
NM_198578.4(LRRK2):c.6059T>C (p.Ile2020Thr) rs35870237
NM_203446.3(SYNJ1):c.1259G>C (p.Arg420Pro) rs1060499619
TAF1, SVA RETROTRANSPOSON INSERTION
m.3397A>G rs199476120
m.8344A>G rs118192098
nsv513788

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