ClinVar Miner

List of variants reported as likely pathogenic for basal ganglia disorder by Invitae

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_022089.4(ATP13A2):c.477+2T>G rs758014228 0.00009
NM_018206.6(VPS35):c.2320C>A (p.Leu774Met) rs192419029 0.00006
NM_152296.5(ATP1A3):c.2885C>A (p.Pro962His) rs145179304 0.00004
NM_004082.5(DCTN1):c.3823C>T (p.Arg1275Cys) rs766653950 0.00001
NM_022089.4(ATP13A2):c.1845+1G>A rs2076970587 0.00001
NM_022089.4(ATP13A2):c.2529+1G>A rs776448394 0.00001
NM_152296.5(ATP1A3):c.7-2A>C rs1555866356 0.00001
NM_203446.3(SYNJ1):c.1201-2A>G rs1569086116 0.00001
NC_000001.10:g.(?_20974682)_(20975609_?)del
NC_000001.11:g.(?_7969325)_(7969424_?)del
NC_000006.11:g.(?_162683537)_(162683817_?)dup
NC_000021.8:g.(?_34029319)_(34031816_?)del
NM_001044.5(SLC6A3):c.1031+1G>A rs431905514
NM_001044.5(SLC6A3):c.1156G>A (p.Gly386Arg)
NM_001044.5(SLC6A3):c.1767+2T>C rs2126324037
NM_001256864.2(DNAJC6):c.666+1G>A
NM_004082.5(DCTN1):c.279G>C (p.Gln93His)
NM_012179.4(FBXO7):c.1183-2_1183-1del
NM_012179.4(FBXO7):c.418-1G>C
NM_012179.4(FBXO7):c.418-2A>G
NM_012179.4(FBXO7):c.418-2A>T
NM_022089.4(ATP13A2):c.1353_1353+1del
NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg) rs121918227
NM_022089.4(ATP13A2):c.1846-2A>G rs2100783138
NM_022089.4(ATP13A2):c.2006-1G>C
NM_022089.4(ATP13A2):c.2127-2_2127-1delinsCC
NM_022089.4(ATP13A2):c.2413-1G>C
NM_022089.4(ATP13A2):c.2763-4_2763-1del
NM_022089.4(ATP13A2):c.3083+2T>C rs771581490
NM_022089.4(ATP13A2):c.348-9_351del rs749798211
NM_022089.4(ATP13A2):c.557+1G>T
NM_025243.4(SLC19A3):c.1172+2T>G rs2106325851
NM_025243.4(SLC19A3):c.1173-1G>A
NM_025243.4(SLC19A3):c.1403del (p.Lys468fs)
NM_025243.4(SLC19A3):c.150+2T>C rs780157041
NM_025243.4(SLC19A3):c.151-1G>C
NM_025243.4(SLC19A3):c.1A>C (p.Met1Leu)
NM_025243.4(SLC19A3):c.280T>C (p.Trp94Arg) rs1695586409
NM_025243.4(SLC19A3):c.67G>C (p.Gly23Arg)
NM_032409.3(PINK1):c.1252-2_1272del
NM_032409.3(PINK1):c.1527_1530dup (p.Leu511fs)
NM_032409.3(PINK1):c.377A>C (p.Gln126Pro)
NM_032409.3(PINK1):c.776+1G>A
NM_152296.5(ATP1A3):c.1108A>G (p.Thr370Ala) rs2145972442
NM_152296.5(ATP1A3):c.1109C>T (p.Thr370Ile)
NM_152296.5(ATP1A3):c.1302+1G>A rs1599719130
NM_152296.5(ATP1A3):c.1438-2A>G rs2075199553
NM_152296.5(ATP1A3):c.1630+2T>C rs2145965854
NM_152296.5(ATP1A3):c.1790G>A (p.Arg597His) rs1599715341
NM_152296.5(ATP1A3):c.1807-2A>G
NM_152296.5(ATP1A3):c.2051C>A (p.Ser684Tyr)
NM_152296.5(ATP1A3):c.2051C>T (p.Ser684Phe) rs397515577
NM_152296.5(ATP1A3):c.2094+2_2094+3del
NM_152296.5(ATP1A3):c.2095-1G>A rs2145959709
NM_152296.5(ATP1A3):c.2303A>G (p.Tyr768Cys) rs1599706613
NM_152296.5(ATP1A3):c.2407G>C (p.Gly803Arg) rs2075090666
NM_152296.5(ATP1A3):c.2417T>G (p.Met806Arg) rs549006436
NM_152296.5(ATP1A3):c.2428A>G (p.Ile810Val)
NM_152296.5(ATP1A3):c.2677G>C (p.Gly893Arg) rs1568853466
NM_152296.5(ATP1A3):c.2851G>A (p.Glu951Lys) rs2145942372
NM_152296.5(ATP1A3):c.2921+1G>C rs2075058462
NM_152296.5(ATP1A3):c.2977_2982dup (p.Ile994_Arg995insGluIle)
NM_152296.5(ATP1A3):c.724+1G>T rs2075276177
NM_152296.5(ATP1A3):c.973G>C (p.Gly325Arg) rs2145977694
NM_152296.5(ATP1A3):c.977T>C (p.Leu326Pro)
NM_152296.5(ATP1A3):c.994-1G>A
NM_198578.4(LRRK2):c.4321C>A (p.Arg1441Ser) rs33939927
NM_203446.3(SYNJ1):c.2461+2T>C
NM_203446.3(SYNJ1):c.3247+2T>G
NM_203446.3(SYNJ1):c.3430+1G>A rs2145769010
NM_203446.3(SYNJ1):c.3478+1G>A rs1085307987
NM_203446.3(SYNJ1):c.3589-1G>A
NM_203446.3(SYNJ1):c.789+1G>A rs2042124608

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