List of variants reported as likely pathogenic for Parkinson disease

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 110

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HGVS	dbSNP	gnomAD frequency
NM_001382273.1(TNK2):c.2675G>A (p.Arg892His)	rs112384084	0.01127
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)	rs34637584	0.00036
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met)	rs149653983	0.00029
NM_198578.4(LRRK2):c.3974G>A (p.Arg1325Gln)	rs72546338	0.00021
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp)	rs191486604	0.00013
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln)	rs149712244	0.00009
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln)	rs121908686	0.00009
NM_022089.4(ATP13A2):c.477+2T>G	rs758014228	0.00009
NM_004562.3(PRKN):c.2T>C (p.Met1Thr)	rs771586218	0.00008
NM_007262.5(PARK7):c.83G>A (p.Arg28Gln)	rs142405016	0.00008
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs)	rs765632065	0.00007
NM_000157.4(GBA1):c.115+1G>A	rs104886460	0.00006
NM_004562.3(PRKN):c.98G>A (p.Arg33Gln)	rs147757966	0.00006
NM_018206.6(VPS35):c.2320C>A (p.Leu774Met)	rs192419029	0.00006
NM_001103146.3(GIGYF2):c.2378C>T (p.Ala793Val)	rs748538823	0.00005
NM_004562.3(PRKN):c.1321T>C (p.Cys441Arg)	rs778305273	0.00005
NM_022089.4(ATP13A2):c.943G>A (p.Gly315Arg)	rs150519745	0.00005
NM_000157.4(GBA1):c.928A>G (p.Ser310Gly)	rs1057942	0.00004
NM_007262.5(PARK7):c.471_473del (p.Pro158del)	rs764877312	0.00004
NM_000157.4(GBA1):c.762-1G>C	rs1237637353	0.00003
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp)	rs121908687	0.00003
NM_022089.4(ATP13A2):c.1205C>T (p.Thr402Met)	rs763632781	0.00003
NM_000157.4(GBA1):c.946C>T (p.Arg316Cys)	rs1264734195	0.00002
NM_004562.3(PRKN):c.633A>T (p.Lys211Asn)	rs137853060	0.00002
NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile)	rs76539814	0.00001
NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg)	rs121908305	0.00001
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)	rs74500255	0.00001
NM_000157.4(GBA1):c.896T>C (p.Ile299Thr)	rs794727908	0.00001
NM_000345.4(SNCA):c.44T>C (p.Val15Ala)	rs1739238968	0.00001
NM_003560.4(PLA2G6):c.1061T>C (p.Leu354Pro)	rs1403125636	0.00001
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=)	rs368497893	0.00001
NM_003560.4(PLA2G6):c.1427+1G>A	rs750939090	0.00001
NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp)	rs587784350	0.00001
NM_004562.3(PRKN):c.1288G>A (p.Gly430Ser)	rs1226997153	0.00001
NM_004562.3(PRKN):c.1A>G (p.Met1Val)	rs772786691	0.00001
NM_007262.5(PARK7):c.460A>G (p.Thr154Ala)	rs1472900688	0.00001
NM_020821.3(VPS13C):c.8806C>T (p.Arg2936Ter)	rs148074630	0.00001
NM_022089.4(ATP13A2):c.1657C>T (p.Arg553Ter)	rs1264582344	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_058246.4(DNAJB6):c.577A>G (p.Thr193Ala)	rs770053224	0.00001
NM_203446.3(SYNJ1):c.1201-2A>G	rs1569086116	0.00001
GRCh37/hg19 6q26(chr6:162206818-162206900)
GRCh37/hg19 6q26(chr6:162475128-162475157)
GRCh37/hg19 6q26(chr6:162683576-162683772)
GRCh37/hg19 6q26(chr6:162864400-162864441)
NC_000001.10:g.(?_20974682)_(20975609_?)del
NC_000001.10:g.155183259_(155210558_155210826)del
NC_000001.11:g.(?_7969325)_(7969424_?)del
NC_000006.11:g.(?_162683537)_(162683817_?)dup
NC_000021.8:g.(?_34029319)_(34031816_?)del
NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser)	rs1553217294
NM_000157.4(GBA1):c.1312G>C (p.Asp438His)	rs1553217009
NM_000157.4(GBA1):c.896T>A (p.Ile299Asn)
NM_000345.4(SNCA):c.174G>C (p.Lys58Asn)
NM_000345.4(SNCA):c.88G>C (p.Ala30Pro)	rs104893878
NM_001018111.3(PODXL):c.89_90insGTCGCCCC (p.Gln32fs)	rs1554391082
NM_001256864.2(DNAJC6):c.2570del (p.Pro857fs)
NM_001256864.2(DNAJC6):c.49G>T (p.Glu17Ter)	rs1219237924
NM_001256864.2(DNAJC6):c.666+1G>A
NM_004562.3(PRKN):c.1301T>C (p.Met434Thr)	rs1582953433
NM_004562.3(PRKN):c.220_221dup (p.Trp74fs)	rs746646126
NM_004562.3(PRKN):c.73C>T (p.Gln25Ter)	rs1440010564
NM_007262.5(PARK7):c.191_192del (p.Glu64fs)	rs1553122929
NM_007262.5(PARK7):c.302T>C (p.Leu101Pro)	rs2151432401
NM_007262.5(PARK7):c.90+1dup	rs1578089802
NM_012179.4(FBXO7):c.1033C>T (p.Arg345Ter)
NM_012179.4(FBXO7):c.1183-2_1183-1del
NM_012179.4(FBXO7):c.1345_1347delinsTAA (p.Asp449Ter)	rs2146009225
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_020821.3(VPS13C):c.10576C>T (p.Arg3526Ter)
NM_020821.3(VPS13C):c.10786_10792del (p.Pro3596fs)	rs2140867780
NM_020821.3(VPS13C):c.1193_1194del (p.Ile398fs)
NM_020821.3(VPS13C):c.1483+1G>A	rs2046226928
NM_020821.3(VPS13C):c.9481G>T (p.Glu3161Ter)
NM_022089.4(ATP13A2):c.1298_1299del (p.Ser433fs)
NM_022089.4(ATP13A2):c.1306+1G>C
NM_022089.4(ATP13A2):c.1353_1353+1del
NM_022089.4(ATP13A2):c.1407_1428dup (p.Met477fs)
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.2135_2136del (p.Val712fs)	rs2076942520
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.3418C>T (p.Gln1140Ter)	rs1057519289
NM_022089.4(ATP13A2):c.348-9_351del	rs749798211
NM_022089.4(ATP13A2):c.557+1G>T
NM_022089.4(ATP13A2):c.558-1G>T	rs2077392348
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.385C>T (p.Gln129Ter)
NM_032409.3(PINK1):c.774C>A (p.Tyr258Ter)	rs756783990
NM_032409.3(PINK1):c.776+1G>A
NM_198578.4(LRRK2):c.4321C>A (p.Arg1441Ser)	rs33939927
NM_203446.3(SYNJ1):c.2242C>T (p.Gln748Ter)
NM_203446.3(SYNJ1):c.2254del (p.Asp752fs)	rs2040866242
NM_203446.3(SYNJ1):c.2398C>T (p.Arg800Cys)
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
Single allele

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