ClinVar Miner

List of variants reported as pathogenic for Parkinson disease by Invitae

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NC_000001.10:g.(?_17318209)_(17319096_?)del
NC_000004.11:g.(?_90647315)_(90756828_?)dup
NC_000004.11:g.(?_90647315)_(90756838_?)dup
NC_000006.11:g.(?_161990367)_(161990468_?)del
NC_000006.11:g.(?_162206784)_(162206960_?)dup
NC_000006.11:g.(?_162206784)_(162394469_?)del
NC_000006.11:g.(?_162394314)_(162475226_?)dup
NC_000006.11:g.(?_162475123)_(162475206_?)del
NC_000006.11:g.(?_162622143)_(162622304_?)del
NC_000006.11:g.(?_162622143)_(162683817_?)del
NC_000006.11:g.(?_162622163)_(162864505_?)del
NC_000006.11:g.(?_162683547)_(162683807_?)del
NC_000006.11:g.(?_162864322)_(162864525_?)dup
NM_000345.4(SNCA):c.157G>A (p.Ala53Thr) rs104893877
NM_001256865.1(DNAJC6):c.244C>T (p.Arg82Ter) rs864622011
NM_003895.3(SYNJ1):c.24G>A (p.Trp8Ter) rs1569147057
NM_003895.3(SYNJ1):c.2910_2914del (p.Arg971fs) rs778394516
NM_004562.2(PRKN):c.8-?_171+?del
NM_004562.3(PRKN):c.125G>C (p.Arg42Pro)
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp) rs191486604
NM_004562.3(PRKN):c.155del (p.Asn52fs) rs754809877
NM_004562.3(PRKN):c.560T>G (p.Leu187Ter) rs1562485799
NM_004562.3(PRKN):c.635G>A (p.Cys212Tyr) rs137853058
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054
NM_004562.3(PRKN):c.850G>C (p.Gly284Arg) rs751037529
NM_004562.3(PRKN):c.98G>A (p.Arg33Gln)
NM_007262.5(PARK7):c.105dup (p.Ala36fs) rs781600849
NM_012179.4(FBXO7):c.1206_1207dup (p.Arg403fs)
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter) rs773246271
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065
NM_022089.4(ATP13A2):c.3153_3154CT[2] (p.Leu1053fs)
NM_032409.3(PINK1):c.1040T>C (p.Leu347Pro) rs28940285
NM_032409.3(PINK1):c.13C>T (p.Gln5Ter)
NM_032409.3(PINK1):c.1474C>T (p.Arg492Ter) rs34208370
NM_032409.3(PINK1):c.273del (p.Cys92fs)
NM_032409.3(PINK1):c.599del (p.Ala200fs) rs1557561340
NM_032409.3(PINK1):c.736C>T (p.Arg246Ter) rs74315357
NM_198578.4(LRRK2):c.4321C>T (p.Arg1441Cys) rs33939927
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584
Single allele

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