Mercurial > repos > nathandunn > monarchinitiative
diff test-data/variants-for-disease.tsv @ 9:5fa1f0ca69cc draft default tip
planemo upload commit f59eaefa6c10f425809c7cb6d2e3df6164fa3a15
| author | nathandunn |
|---|---|
| date | Sun, 25 Sep 2016 21:59:32 -0400 |
| parents | 61d8060bf2ed |
| children |
line wrap: on
line diff
--- a/test-data/variants-for-disease.tsv Mon Aug 22 12:53:55 2016 -0400 +++ b/test-data/variants-for-disease.tsv Sun Sep 25 21:59:32 2016 -0400 @@ -1,117 +1,125 @@ -ClinVarVariant:2409 NM_032409.2(PINK1):c.1570_1573dupTTAG (p.Asp525Valfs) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset PMID:15349871 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:6204 NM_003560.2(PLA2G6):c.2239C>T (p.Arg747Trp) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:612953 Parkinson disease 14 PMID:18981035|PMID:18570303|PMID:20886109|PMID:18570303|PMID:26633545 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:2408 NM_032409.2(PINK1):c.1040T>C (p.Leu347Pro) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset PMID:15596610|PMID:15349870|PMID:15824318 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:6203 NM_003560.2(PLA2G6):c.2222G>A (p.Arg741Gln) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:612953 Parkinson disease 14 PMID:18570303|PMID:18981035 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:218884 NM_001320327.1(CHCHD2):c.300+5G>A NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:616710 Parkinson disease 22, autosomal dominant PMID:26067113|PMID:25662902 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:56171 NM_015268.3(DNAJC13):c.2564A>G (p.Asn855Ser) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:168600 Parkinson Disease, Late-Onset PMID:24218364 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:39131 NM_198578.3(LRRK2):c.1256C>T (p.Ala419Val) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:218882 NM_001320327.1(CHCHD2):c.182C>T (p.Thr61Ile) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:616710 Parkinson disease 22, autosomal dominant PMID:25662902|PMID:26067113 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:14011 SNCA, DUPLICATION NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:168601 Parkinson disease 1 PMID:17625105|PMID:18195271|PMID:17251522|PMID:18852448|PMID:18852449|PMID:15451224|PMID:18852445|PMID:15451225|PMID:14593171|PMID:14755720|PMID:16358335 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:2407 NM_032409.2(PINK1):c.736C>T (p.Arg246Ter) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset PMID:15349870 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:218883 NM_001320327.1(CHCHD2):c.434G>A (p.Arg145Gln) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:616710 Parkinson disease 22, autosomal dominant PMID:25662902|PMID:26067113 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:2406 NM_032409.2(PINK1):c.1311G>A (p.Trp437Ter) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset PMID:16207731|PMID:15087508|PMID:18524835 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:2405 NM_032409.2(PINK1):c.813C>A (p.His271Gln) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset PMID:15349870 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:14009 SNCA, TRIPLICATION NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:605543 Parkinson Disease 4, Autosomal Dominant PMID:17251522|PMID:8285594|PMID:15159488|PMID:14593171|PMID:14755720 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -OMIM:602544.0002 PARK2, EX4DEL OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/coriell.ttl inferred -ClinVarVariant:88844 NM_203446.2(SYNJ1):c.773G>A (p.Arg258Gln) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:615530 Parkinson disease 20, early-onset PMID:23804577|PMID:23804563 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7043 NM_004562.2(PARK2):c.483A>T (p.Lys161Asn) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:10072423|PMID:16049031 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:1219 NM_022089.3(ATP13A2):c.1306+5G>A NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:606693 Parkinson disease 9 PMID:16964263|PMID:21724849 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7042 NM_004562.2(PARK2):c.1358G>A (p.Trp453Ter) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:10072423|PMID:16049031 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:1218 ATP13A2, 1-BP DEL, 3057C NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:606693 Parkinson disease 9 PMID:21724849|PMID:16964263 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -OMIM:602544.0011 PARK2, ALA82GLU OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred -ClinVarVariant:7041 NM_004562.2(PARK2):c.872-?_1083+?del NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:9802278 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:88855 NM_001256865.1(DNAJC6):c.2200C>T (p.Gln734Ter) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:615528 Parkinson Disease 19, Juvenile-Onset PMID:23211418 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:88854 NM_001256864.1(DNAJC6):c.801-2A>G NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:615528 Parkinson Disease 19, Juvenile-Onset PMID:24220513|PMID:22563501 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7040 NM_004562.2(PARK2):c.8-?_171+?del NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:9634531|PMID:9802278 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:16764 NM_001044.4(SLC6A3):c.1184C>T (p.Pro395Leu) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:613135 Parkinsonism-Dystonia, Infantile PMID:19478460 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:16763 NM_001044.4(SLC6A3):c.1103T>A (p.Leu368Gln) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:613135 Parkinsonism-Dystonia, Infantile PMID:19478460 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:30196 NM_018206.5(VPS35):c.1858G>A (p.Asp620Asn) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:614203 Parkinson Disease 17 PMID:22991136|PMID:22517097|PMID:22801713|PMID:21763483|PMID:18342564 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7063 NC_000001.10:g.(8018845_8022846)_(8037799_8044954)del NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:606324 Parkinson disease 7 PMID:12446870|PMID:20639397 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7036 NM_004562.2(PARK2):c.719C>G (p.Thr240Arg) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:16049031|PMID:9731209 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7037 NM_004562.2(PARK2):c.931C>T (p.Gln311Ter) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:16049031|PMID:9731209 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7038 NM_004562.2(PARK2):c.245C>A (p.Ala82Glu) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:11487568 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:39198 NM_198578.3(LRRK2):c.4883G>C (p.Arg1628Pro) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7034 NM_004562.2(PARK2):c.172-?_871+?del NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:9560156 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -OMIM:602544.0005 PARK2, EX3DEL OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred -ClinVarVariant:30833 NM_022089.3(ATP13A2):c.1101_1102dupGA (p.Thr368Argfs) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:606693 Parkinson disease 9 PMID:20310007 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7066 NM_007262.4(PARK7):c.446A>C (p.Asp149Ala) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:606324 Parkinson disease 7 PMID:12953260|PMID:23792957 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:14007 NM_000345.3(SNCA):c.157G>A (p.Ala53Thr) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:168601 Parkinson disease 1 PMID:18704525|PMID:11261505|PMID:17489854|PMID:10417297|PMID:9506559|PMID:9499430|PMID:9197268|PMID:9827625|PMID:20340137|PMID:19632874 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7067 NM_007262.4(PARK7):c.192G>C (p.Glu64Asp) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:606324 Parkinson disease 7 PMID:15365989 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7064 NM_007262.4(PARK7):c.497T>C (p.Leu166Pro) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:606324 Parkinson disease 7 PMID:20639397|PMID:12446870|PMID:22492997 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:2404 NM_032409.2(PINK1):c.926G>A (p.Gly309Asp) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset PMID:18003639|PMID:15087508|PMID:16207731 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:1943 NM_198578.3(LRRK2):c.7153G>A (p.Gly2385Arg) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -dbSNP:rs34637584 rs34637584-A NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred +ClinVarVariant:39212 NM_198578.3(LRRK2):c.5605A>G (p.Met1869Val) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:4808 NM_012179.3(FBXO7):c.1132C>G (p.Arg378Gly) NCBITaxon:9606 Homo sapiens NCBIGene:25793 FBXO7 GENO:0000840 pathogenic_for_condition OMIM:260300 autosomal recessive early-onset Parkinson disease 15 PMID:18513678 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:7036 NM_004562.2(PARK2):c.719C>G (p.Thr240Arg) NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:9731209|PMID:16049031 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +NCBIGene:108353827 PARK21 NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:616361 PARK21 ECO:0000177 genomic context evidence http://data.monarchinitiative.org/ttl/omim.ttl direct +ClinVarVariant:30196 NM_018206.5(VPS35):c.1858G>A (p.Asp620Asn) NCBITaxon:9606 Homo sapiens NCBIGene:55737 VPS35 GENO:0000840 pathogenic_for_condition OMIM:614203 Parkinson Disease 17 PMID:18342564|PMID:22517097|PMID:21763483|PMID:22991136|PMID:22801713 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:7063 NC_000001.10:g.(8018845_8022846)_(8037799_8044954)del NCBITaxon:9606 Homo sapiens NCBIGene:11315 PARK7 GENO:0000840 pathogenic_for_condition OMIM:606324 Parkinson disease 7 PMID:20639397|PMID:12446870 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:7065 NM_007262.4(PARK7):c.78G>A (p.Met26Ile) NCBITaxon:9606 Homo sapiens NCBIGene:11315 PARK7 GENO:0000840 pathogenic_for_condition OMIM:606324 Parkinson disease 7 PMID:12953260|PMID:22492997 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:162095 NM_000345.3(SNCA):c.150T>G (p.His50Gln) NCBITaxon:9606 Homo sapiens NCBIGene:6622 SNCA GENO:0000840 pathogenic_for_condition OMIM:168601 Parkinson disease 1 PMID:24936070|PMID:23427326 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:7064 NM_007262.4(PARK7):c.497T>C (p.Leu166Pro) NCBITaxon:9606 Homo sapiens NCBIGene:11315 PARK7 GENO:0000840 pathogenic_for_condition OMIM:606324 Parkinson disease 7 PMID:22492997|PMID:20639397|PMID:12446870 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:209136 NM_022089.3(ATP13A2):c.943G>A (p.Gly315Arg) NCBITaxon:9606 Homo sapiens NCBIGene:23400 ATP13A2 GENO:0000841 likely_pathogenic_for_condition OMIM:606693 Parkinson disease 9 PMID:26633545 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:50354 NM_004562.2(PARK2):c.1292G>T (p.Cys431Phe) NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:10939576|PMID:7565830 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:7035 NM_004562.2(PARK2):c.413-?_534+?del NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:11009195|PMID:16086186|PMID:9560156|PMID:7565830|PMID:11405814 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:157665 NC_000023.11:g.(155246216_?)_(?_155288781)del NCBITaxon:9606 Homo sapiens NCBIGene:116442 RAB39B GENO:0000840 pathogenic_for_condition OMIM:311510 Parkinsonism, early onset with mental retardation http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:39198 NM_198578.3(LRRK2):c.4883G>C (p.Arg1628Pro) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:7034 NM_004562.2(PARK2):c.172-?_871+?del NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:9560156 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:7037 NM_004562.2(PARK2):c.931C>T (p.Gln311Ter) NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:16049031|PMID:9731209 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:7038 NM_004562.2(PARK2):c.245C>A (p.Ala82Glu) NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:11487568 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:7050 NM_004562.2(PARK2):c.823C>T (p.Arg275Trp) NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:14519684|PMID:16049031|PMID:15970950 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:39148 NM_198578.3(LRRK2):c.2264C>T (p.Pro755Leu) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:7051 NM_004562.2(PARK2):c.633A>T (p.Lys211Asn) NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:15970950 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:1936 NM_198578.3(LRRK2):c.4321C>G (p.Arg1441Gly) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 PMID:19020907|PMID:16003110|PMID:16533964|PMID:19308469|PMID:15541308 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:9579 m.8344A>G NCBITaxon:9606 Homo sapiens NCBIGene:4566 TRNK GENO:0000840 pathogenic_for_condition OMIM:556500 Parkinson disease, mitochondrial PMID:1463005|PMID:1678125|PMID:8264702|PMID:1661776|PMID:1848674|PMID:1900002|PMID:1910259|PMID:20581069|PMID:7647790|PMID:8447321|PMID:1334369|PMID:17200493|PMID:8602753|PMID:8513395|PMID:10699170|PMID:8069655|PMID:1487239|PMID:1910341|PMID:9529371|PMID:2112427|PMID:1899320|PMID:1324294|PMID:8170567|PMID:9674814 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:29936 NM_012084.3(GLUD2):c.1492T>G (p.Ser498Ala) NCBITaxon:9606 Homo sapiens NCBIGene:2747 GLUD2 GENO:0000840 pathogenic_for_condition OMIM:168600 Parkinson Disease, Late-Onset PMID:19826450 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:1939 NM_198578.3(LRRK2):c.3364A>G (p.Ile1122Val) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 PMID:15541309 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:7054 NM_004562.2(PARK2):c.719C>T (p.Thr240Met) NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:16476817 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +OMIM:602544.0022 PARK2, EX5-6 DEL NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred +ClinVarVariant:9726 m.3397A>G NCBITaxon:9606 Homo sapiens NCBIGene:4535 ND1 GENO:0000840 pathogenic_for_condition OMIM:168600 Parkinson Disease, Late-Onset PMID:7624338 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:7055 PARK2, EX5-6 DEL NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:16476817 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:1937 NM_198578.3(LRRK2):c.5096A>G (p.Tyr1699Cys) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 PMID:15541309|PMID:16003110|PMID:18591067|PMID:15541308 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:4811 NM_012179.3(FBXO7):c.65C>T (p.Thr22Met) NCBITaxon:9606 Homo sapiens NCBIGene:25793 FBXO7 GENO:0000840 pathogenic_for_condition OMIM:260300 autosomal recessive early-onset Parkinson disease 15 PMID:19038853 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +NCBIGene:5072 PARK3 NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:602404 PARK3 ECO:0000177 genomic context evidence http://data.monarchinitiative.org/ttl/omim.ttl direct +NCBIGene:677662 PARK12 NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:300557 PARK12 ECO:0000177 genomic context evidence http://data.monarchinitiative.org/ttl/omim.ttl direct +ClinVarVariant:7052 PARK2, 1-BP DEL, 1072T NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:16130111|PMID:10894217 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:30371 NM_003560.2(PLA2G6):c.991G>T (p.Asp331Tyr) NCBITaxon:9606 Homo sapiens NCBIGene:8398 PLA2G6 GENO:0000840 pathogenic_for_condition OMIM:612953 Adult-onset dystonia-parkinsonism PMID:21700586 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:1938 NM_198578.3(LRRK2):c.4321C>T (p.Arg1441Cys) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 PMID:7898705|PMID:16269541|PMID:19667187|PMID:15541309 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:7053 NM_004562.2(PARK2):c.7+1G>T NCBITaxon:9606 Homo sapiens NCBIGene:135138 PACRG GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:16328510 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:156532 NM_171998.3(RAB39B):c.503C>A (p.Thr168Lys) NCBITaxon:9606 Homo sapiens NCBIGene:116442 RAB39B GENO:0000840 pathogenic_for_condition OMIM:311510 Parkinsonism, early onset with mental retardation PMID:25434005|PMID:4025396 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:4809 NM_012179.3(FBXO7):c.1492C>T (p.Arg498Ter) NCBITaxon:9606 Homo sapiens NCBIGene:25793 FBXO7 GENO:0000840 pathogenic_for_condition OMIM:260300 autosomal recessive early-onset Parkinson disease 15 PMID:19038853 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:143196 NM_022089.3(ATP13A2):c.490C>T (p.Arg164Trp) NCBITaxon:9606 Homo sapiens NCBIGene:23400 ATP13A2 GENO:0000840 pathogenic_for_condition OMIM:606693 Parkinson disease 9 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +OMIM:163890.0003 SNCA, TRIPLICATION NCBITaxon:9606 Homo sapiens NCBIGene:6622 SNCA OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred +ClinVarVariant:39215 NM_198578.3(LRRK2):c.5620G>T (p.Glu1874Ter) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:209135 NM_022089.3(ATP13A2):c.348-9_351del NCBITaxon:9606 Homo sapiens NCBIGene:23400 ATP13A2 GENO:0000840 pathogenic_for_condition OMIM:606693 Parkinson disease 9 PMID:26633545 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:14007 NM_000345.3(SNCA):c.157G>A (p.Ala53Thr) NCBITaxon:9606 Homo sapiens NCBIGene:6622 SNCA GENO:0000840 pathogenic_for_condition OMIM:168601 Parkinson disease 1 PMID:9827625|PMID:11261505|PMID:9506559|PMID:10417297|PMID:19632874|PMID:20340137|PMID:17489854|PMID:9499430|PMID:9197268|PMID:18704525 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:7067 NM_007262.4(PARK7):c.192G>C (p.Glu64Asp) NCBITaxon:9606 Homo sapiens NCBIGene:11315 PARK7 GENO:0000840 pathogenic_for_condition OMIM:606324 Parkinson disease 7 PMID:15365989 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:7066 NM_007262.4(PARK7):c.446A>C (p.Asp149Ala) NCBITaxon:9606 Homo sapiens NCBIGene:11315 PARK7 GENO:0000840 pathogenic_for_condition OMIM:606324 Parkinson disease 7 PMID:12953260|PMID:23792957 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:30833 NM_022089.3(ATP13A2):c.1101_1102dupGA (p.Thr368Argfs) NCBITaxon:9606 Homo sapiens NCBIGene:23400 ATP13A2 GENO:0000840 pathogenic_for_condition OMIM:606693 Parkinson disease 9 PMID:20310007 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +OMIM:602544.0005 PARK2, EX3DEL NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred +ClinVarVariant:218362 NM_171998.3(RAB39B):c.574G>A (p.Gly192Arg) NCBITaxon:9606 Homo sapiens NCBIGene:116442 RAB39B GENO:0000840 pathogenic_for_condition OMIM:311510 Parkinsonism, early onset with mental retardation http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:2405 NM_032409.2(PINK1):c.813C>A (p.His271Gln) NCBITaxon:9606 Homo sapiens NCBIGene:100861548 PINK1-AS GENO:0000840 pathogenic_for_condition OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset PMID:15349870 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:14009 SNCA, TRIPLICATION NCBITaxon:9606 Homo sapiens NCBIGene:6622 SNCA GENO:0000840 pathogenic_for_condition OMIM:605543 Parkinson Disease 4, Autosomal Dominant PMID:8285594|PMID:15159488|PMID:17251522|PMID:14593171|PMID:14755720 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +OMIM:602544.0002 PARK2, EX4DEL NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/coriell.ttl inferred +ClinVarVariant:2406 NM_032409.2(PINK1):c.1311G>A (p.Trp437Ter) NCBITaxon:9606 Homo sapiens NCBIGene:100861548 PINK1-AS GENO:0000840 pathogenic_for_condition OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset PMID:18524835|PMID:16207731|PMID:15087508 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:14011 SNCA, DUPLICATION NCBITaxon:9606 Homo sapiens NCBIGene:6622 SNCA GENO:0000840 pathogenic_for_condition OMIM:168601 Parkinson disease 1 PMID:14593171|PMID:17625105|PMID:18852448|PMID:16358335|PMID:18852449|PMID:18852445|PMID:18195271|PMID:15451224|PMID:14755720|PMID:15451225|PMID:17251522 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:2407 NM_032409.2(PINK1):c.736C>T (p.Arg246Ter) NCBITaxon:9606 Homo sapiens NCBIGene:102464833 MIR6084 GENO:0000840 pathogenic_for_condition OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset PMID:15349870 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:39131 NM_198578.3(LRRK2):c.1256C>T (p.Ala419Val) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:218882 NM_001320327.1(CHCHD2):c.182C>T (p.Thr61Ile) NCBITaxon:9606 Homo sapiens NCBIGene:51142 CHCHD2 GENO:0000840 pathogenic_for_condition OMIM:616710 Parkinson disease 22, autosomal dominant PMID:25662902|PMID:26067113 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:218883 NM_001320327.1(CHCHD2):c.434G>A (p.Arg145Gln) NCBITaxon:9606 Homo sapiens NCBIGene:51142 CHCHD2 GENO:0000840 pathogenic_for_condition OMIM:616710 Parkinson disease 22, autosomal dominant PMID:25662902|PMID:26067113 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:6203 NM_003560.2(PLA2G6):c.2222G>A (p.Arg741Gln) NCBITaxon:9606 Homo sapiens NCBIGene:8398 PLA2G6 GENO:0000840 pathogenic_for_condition OMIM:612953 Adult-onset dystonia-parkinsonism PMID:18570303|PMID:18981035 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:2408 NM_032409.2(PINK1):c.1040T>C (p.Leu347Pro) NCBITaxon:9606 Homo sapiens NCBIGene:100861548 PINK1-AS GENO:0000840 pathogenic_for_condition OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset PMID:15824318|PMID:15349870|PMID:15596610 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:218884 NM_001320327.1(CHCHD2):c.300+5G>A NCBITaxon:9606 Homo sapiens NCBIGene:51142 CHCHD2 GENO:0000840 pathogenic_for_condition OMIM:616710 Parkinson disease 22, autosomal dominant PMID:26067113|PMID:25662902 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:56171 NM_015268.3(DNAJC13):c.2564A>G (p.Asn855Ser) NCBITaxon:9606 Homo sapiens NCBIGene:23317 DNAJC13 GENO:0000840 pathogenic_for_condition OMIM:168600 Parkinson Disease, Late-Onset PMID:24218364 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:6204 NM_003560.2(PLA2G6):c.2239C>T (p.Arg747Trp) NCBITaxon:9606 Homo sapiens NCBIGene:8398 PLA2G6 GENO:0000840 pathogenic_for_condition OMIM:612953 Adult-onset dystonia-parkinsonism PMID:18570303|PMID:26633545|PMID:18570303|PMID:20886109|PMID:18981035 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:2409 NM_032409.2(PINK1):c.1570_1573dupTTAG (p.Asp525Valfs) NCBITaxon:9606 Homo sapiens NCBIGene:100861548 PINK1-AS GENO:0000840 pathogenic_for_condition OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset PMID:15349871 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:16763 NM_001044.4(SLC6A3):c.1103T>A (p.Leu368Gln) NCBITaxon:9606 Homo sapiens NCBIGene:6531 SLC6A3 GENO:0000840 pathogenic_for_condition OMIM:613135 Parkinsonism-Dystonia, Infantile PMID:19478460 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:88854 NM_001256864.1(DNAJC6):c.801-2A>G NCBITaxon:9606 Homo sapiens NCBIGene:9829 DNAJC6 GENO:0000840 pathogenic_for_condition OMIM:615528 Parkinson disease 19a, juvenile-onset PMID:22563501|PMID:24220513 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:7040 NM_004562.2(PARK2):c.8-?_171+?del NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:9634531|PMID:9802278 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:16764 NM_001044.4(SLC6A3):c.1184C>T (p.Pro395Leu) NCBITaxon:9606 Homo sapiens NCBIGene:6531 SLC6A3 GENO:0000840 pathogenic_for_condition OMIM:613135 Parkinsonism-Dystonia, Infantile PMID:19478460 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:7041 NM_004562.2(PARK2):c.872-?_1083+?del NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:9802278 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:224604 NM_020821.2(VPS13C):c.802_805dupCAGA (p.Arg269Thrfs) NCBITaxon:9606 Homo sapiens NCBIGene:54832 VPS13C GENO:0000840 pathogenic_for_condition OMIM:616840 Parkinson Disease 23, Autosomal Recessive Early-Onset PMID:26942284 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:1218 ATP13A2, 1-BP DEL, 3057C NCBITaxon:9606 Homo sapiens NCBIGene:23400 ATP13A2 GENO:0000840 pathogenic_for_condition OMIM:606693 Parkinson disease 9 PMID:16964263|PMID:21724849 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +OMIM:602544.0011 PARK2, ALA82GLU NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred +ClinVarVariant:222067 NM_020821.2(VPS13C):c.8445+2T>G NCBITaxon:9606 Homo sapiens NCBIGene:54832 VPS13C GENO:0000840 pathogenic_for_condition OMIM:616840 Parkinson Disease 23, Autosomal Recessive Early-Onset PMID:26942284 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:88855 NM_001256865.1(DNAJC6):c.2200C>T (p.Gln734Ter) NCBITaxon:9606 Homo sapiens NCBIGene:9829 DNAJC6 GENO:0000840 pathogenic_for_condition OMIM:615528 Parkinson disease 19a, juvenile-onset PMID:23211418 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:222069 NM_020821.2(VPS13C):c.9568G>T (p.Glu3190Ter) NCBITaxon:9606 Homo sapiens NCBIGene:54832 VPS13C GENO:0000840 pathogenic_for_condition OMIM:616840 Parkinson Disease 23, Autosomal Recessive Early-Onset PMID:26942284 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:1219 NM_022089.3(ATP13A2):c.1306+5G>A NCBITaxon:9606 Homo sapiens NCBIGene:23400 ATP13A2 GENO:0000840 pathogenic_for_condition OMIM:606693 Parkinson disease 9 PMID:16964263|PMID:21724849 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:7042 NM_004562.2(PARK2):c.1358G>A (p.Trp453Ter) NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:10072423|PMID:16049031 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:1941 NM_198578.3(LRRK2):c.6059T>C (p.Ile2020Thr) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 PMID:15541309|PMID:15880653|PMID:9276200|PMID:16321986 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:14008 NM_000345.3(SNCA):c.88G>C (p.Ala30Pro) NCBITaxon:9606 Homo sapiens NCBIGene:6622 SNCA GENO:0000840 pathogenic_for_condition OMIM:168601 Parkinson disease 1 PMID:11376188|PMID:9462735|PMID:24158909|PMID:20437567|PMID:24158904 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:1940 NM_198578.3(LRRK2):c.6055G>A (p.Gly2019Ser) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 PMID:17215492|PMID:16436782|PMID:16966502|PMID:16269541|PMID:15852371|PMID:16436781|PMID:15680457|PMID:16401756|PMID:15726496|PMID:16533964|PMID:23075850|PMID:19283415|PMID:17353388|PMID:17050822|PMID:15811455|PMID:18704525|PMID:15929036|PMID:17060595|PMID:21115957|PMID:16240353|PMID:19020907|PMID:16728648|PMID:20008657|PMID:16311269|PMID:15680455|PMID:15680456|PMID:18981379|PMID:16960813|PMID:16145815|PMID:17938369|PMID:15732108 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:30834 NM_022089.3(ATP13A2):c.2552_2553delTT (p.Phe851Cysfs) NCBITaxon:9606 Homo sapiens NCBIGene:23400 ATP13A2 GENO:0000840 pathogenic_for_condition OMIM:606693 Parkinson disease 9 PMID:21094623 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:1942 NM_198578.3(LRRK2):c.4322G>A (p.Arg1441His) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 PMID:17060595|PMID:16172858|PMID:16157909 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:29685 NM_001044.4(SLC6A3):c.1269+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:6531 SLC6A3 GENO:0000840 pathogenic_for_condition OMIM:613135 Parkinsonism-Dystonia, Infantile PMID:22279524 http://data.monarchinitiative.org/ttl/clinvar.ttl direct NCBIGene:100359403 PARK16 NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:613164 PARK16 ECO:0000177 genomic context evidence http://data.monarchinitiative.org/ttl/omim.ttl direct -ClinVarVariant:1942 NM_198578.3(LRRK2):c.4322G>A (p.Arg1441His) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 PMID:16157909|PMID:17060595|PMID:16172858 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:29685 NM_001044.4(SLC6A3):c.1269+1G>A NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:613135 Parkinsonism-Dystonia, Infantile PMID:22279524 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7045 NM_004562.2(PARK2):c.735-?_871+?del NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:16130111|PMID:11487568|PMID:10894217 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7044 PARK2, 1-BP DEL, 202A NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:11402119|PMID:12707457 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -OMIM:606463.0003 GBA, ASN370SER OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred -ClinVarVariant:7065 NM_007262.4(PARK7):c.78G>A (p.Met26Ile) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:606324 Parkinson disease 7 PMID:12953260|PMID:22492997 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:56171 NM_015268.3(DNAJC13):c.2564A>G (p.Asn855Ser) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:616361 Parkinson disease 21 PMID:24218364 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:162095 NM_000345.3(SNCA):c.150T>G (p.His50Gln) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:168601 Parkinson disease 1 PMID:24936070|PMID:23427326 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:9579 m.8344A>G NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:556500 Parkinson disease, mitochondrial PMID:8602753|PMID:7647790|PMID:9674814|PMID:1899320|PMID:1910341|PMID:8513395|PMID:1900002|PMID:17200493|PMID:1334369|PMID:8069655|PMID:1910259|PMID:1848674|PMID:8264702|PMID:10699170|PMID:8447321|PMID:2112427|PMID:9529371|PMID:8170567|PMID:20581069|PMID:1661776|PMID:1678125|PMID:1463005|PMID:1487239|PMID:1324294 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:39148 NM_198578.3(LRRK2):c.2264C>T (p.Pro755Leu) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7051 NM_004562.2(PARK2):c.633A>T (p.Lys211Asn) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:15970950 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:1936 NM_198578.3(LRRK2):c.4321C>G (p.Arg1441Gly) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 PMID:16533964|PMID:16003110|PMID:15541308|PMID:19020907|PMID:19308469 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:4810 NM_012179.3(FBXO7):c.1144+1G>T NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:260300 autosomal recessive early-onset Parkinson disease 15 PMID:19038853 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7050 NM_004562.2(PARK2):c.823C>T (p.Arg275Trp) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:14519684|PMID:16049031|PMID:15970950 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7035 NM_004562.2(PARK2):c.413-?_534+?del NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:16086186|PMID:9560156|PMID:11405814|PMID:11009195|PMID:7565830 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:209136 NM_022089.3(ATP13A2):c.943G>A (p.Gly315Arg) NCBITaxon:9606 Homo sapiens GENO:0000841 likely_pathogenic_for_condition OMIM:606693 Parkinson disease 9 PMID:26633545 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:50354 NM_004562.2(PARK2):c.1292G>T (p.Cys431Phe) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:7565830|PMID:10939576 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:14008 NM_000345.3(SNCA):c.88G>C (p.Ala30Pro) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:168601 Parkinson disease 1 PMID:24158904|PMID:20437567|PMID:24158909|PMID:11376188|PMID:9462735 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:30834 NM_022089.3(ATP13A2):c.2552_2553delTT (p.Phe851Cysfs) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:606693 Parkinson disease 9 PMID:21094623 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:1940 NM_198578.3(LRRK2):c.6055G>A (p.Gly2019Ser) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 PMID:16533964|PMID:18704525|PMID:23075850|PMID:21115957|PMID:16728648|PMID:17353388|PMID:20008657|PMID:15811455|PMID:19283415|PMID:15852371|PMID:16436782|PMID:15732108|PMID:15680456|PMID:17050822|PMID:15680455|PMID:15929036|PMID:18981379|PMID:16401756|PMID:16966502|PMID:16240353|PMID:17060595|PMID:16311269|PMID:16436781|PMID:16269541|PMID:19020907|PMID:17938369|PMID:16960813|PMID:17215492|PMID:16145815|PMID:15680457|PMID:15726496 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:1941 NM_198578.3(LRRK2):c.6059T>C (p.Ile2020Thr) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 PMID:9276200|PMID:15541309|PMID:15880653|PMID:16321986 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:4808 NM_012179.3(FBXO7):c.1132C>G (p.Arg378Gly) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:260300 autosomal recessive early-onset Parkinson disease 15 PMID:18513678 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:39215 NM_198578.3(LRRK2):c.5620G>T (p.Glu1874Ter) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:209135 NM_022089.3(ATP13A2):c.348-9_351del NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:606693 Parkinson disease 9 PMID:26633545 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -OMIM:163890.0003 SNCA, TRIPLICATION OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred -ClinVarVariant:4809 NM_012179.3(FBXO7):c.1492C>T (p.Arg498Ter) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:260300 autosomal recessive early-onset Parkinson disease 15 PMID:19038853 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:143196 NM_022089.3(ATP13A2):c.490C>T (p.Arg164Trp) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:606693 Parkinson disease 9 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:1938 NM_198578.3(LRRK2):c.4321C>T (p.Arg1441Cys) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 PMID:19667187|PMID:16269541|PMID:15541309|PMID:7898705 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:30371 NM_003560.2(PLA2G6):c.991G>T (p.Asp331Tyr) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:612953 Parkinson disease 14 PMID:21700586 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7053 NM_004562.2(PARK2):c.7+1G>T NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:16328510 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -NCBIGene:5072 PARK3 NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:602404 PARK3 ECO:0000177 genomic context evidence http://data.monarchinitiative.org/ttl/omim.ttl direct -ClinVarVariant:4811 NM_012179.3(FBXO7):c.65C>T (p.Thr22Met) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:260300 autosomal recessive early-onset Parkinson disease 15 PMID:19038853 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -NCBIGene:677662 PARK12 NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:300557 PARK12 ECO:0000177 genomic context evidence http://data.monarchinitiative.org/ttl/omim.ttl direct -ClinVarVariant:1937 NM_198578.3(LRRK2):c.5096A>G (p.Tyr1699Cys) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 PMID:15541308|PMID:18591067|PMID:15541309|PMID:16003110 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7052 PARK2, 1-BP DEL, 1072T NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:16130111|PMID:10894217 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:9726 m.3397A>G NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:168600 Parkinson Disease, Late-Onset PMID:7624338 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7055 PARK2, EX5-6 DEL NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:16476817 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:1221 NM_022089.3(ATP13A2):c.1510G>C (p.Gly504Arg) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:606693 Parkinson disease 9 PMID:17485642 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:97018 NM_001044.4(SLC6A3):c.1561C>T (p.Arg521Trp) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:613135 Parkinsonism-Dystonia, Infantile PMID:21112253 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:1220 ATP13A2, 22-BP DUP NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:606693 Parkinson disease 9 PMID:21724849|PMID:16964263 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:39212 NM_198578.3(LRRK2):c.5605A>G (p.Met1869Val) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:1939 NM_198578.3(LRRK2):c.3364A>G (p.Ile1122Val) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 PMID:15541309 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:29936 NM_012084.3(GLUD2):c.1492T>G (p.Ser498Ala) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:168600 Parkinson Disease, Late-Onset PMID:19826450 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7054 NM_004562.2(PARK2):c.719C>T (p.Thr240Met) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:16476817 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -OMIM:602544.0022 PARK2, EX5-6 DEL OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred -ClinVarVariant:30368 PLA2G6, PHE72LEU NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:612953 Parkinson disease 14 PMID:20938027 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -OMIM:602544.0014 PARK2, 1-BP DEL, 255A OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred -OMIM:602544.0017 PARK2, ARG275TRP OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred -ClinVarVariant:216934 NM_001103146.1(GIGYF2):c.2378C>T (p.Ala793Val) NCBITaxon:9606 Homo sapiens GENO:0000841 likely_pathogenic_for_condition OMIM:607688 Parkinson disease 11 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:2413 NM_032409.2(PINK1):c.938C>T (p.Thr313Met) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset PMID:17030667 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:1943 NM_198578.3(LRRK2):c.7153G>A (p.Gly2385Arg) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +dbSNP:rs34637584 rs34637584-A NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred +ClinVarVariant:2404 NM_032409.2(PINK1):c.926G>A (p.Gly309Asp) NCBITaxon:9606 Homo sapiens NCBIGene:100861548 PINK1-AS GENO:0000840 pathogenic_for_condition OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset PMID:15087508|PMID:16207731|PMID:18003639 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:7043 NM_004562.2(PARK2):c.483A>T (p.Lys161Asn) NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:16049031|PMID:10072423 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:88844 NM_203446.2(SYNJ1):c.773G>A (p.Arg258Gln) NCBITaxon:9606 Homo sapiens NCBIGene:8867 SYNJ1 GENO:0000840 pathogenic_for_condition OMIM:615530 Parkinson disease 20, early-onset PMID:23804563|PMID:23804577 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +OMIM:606463.0003 GBA, ASN370SER NCBITaxon:9606 Homo sapiens NCBIGene:2629 GBA OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred +ClinVarVariant:7044 PARK2, 1-BP DEL, 202A NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:12707457|PMID:11402119 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:7045 NM_004562.2(PARK2):c.735-?_871+?del NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:11487568|PMID:16130111|PMID:10894217 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:30367 NM_003560.2(PLA2G6):c.1354C>T (p.Gln452Ter) NCBITaxon:9606 Homo sapiens NCBIGene:8398 PLA2G6 GENO:0000840 pathogenic_for_condition OMIM:612953 Adult-onset dystonia-parkinsonism PMID:20938027 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:39183 NM_198578.3(LRRK2):c.4309A>C (p.Asn1437His) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:30366 NM_003560.2(PLA2G6):c.1904G>A (p.Arg635Gln) NCBITaxon:9606 Homo sapiens NCBIGene:8398 PLA2G6 GENO:0000840 pathogenic_for_condition OMIM:612953 Adult-onset dystonia-parkinsonism PMID:20938027 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:7048 PARK2, 1-BP DEL, 255A NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:10072423|PMID:12056932 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:7046 NM_004562.2(PARK2):c.635G>A (p.Cys212Tyr) NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:12056932|PMID:11163284 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:189240 NM_032409.2(PINK1):c.620delG (p.Arg207Glnfs) NCBITaxon:9606 Homo sapiens NCBIGene:102464833 MIR6084 GENO:0000840 pathogenic_for_condition OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:7047 NM_004562.2(PARK2):c.167T>A (p.Val56Glu) NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:12056932 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:218942 NM_005397.3(PODXL):c.89_90insGTCGCCCC (p.Gln32Profs) NCBITaxon:9606 Homo sapiens NCBIGene:5420 PODXL GENO:0000841 likely_pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:26864383 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:97017 NM_001044.4(SLC6A3):c.671T>C (p.Leu224Pro) NCBITaxon:9606 Homo sapiens NCBIGene:6531 SLC6A3 GENO:0000840 pathogenic_for_condition OMIM:613135 Parkinsonism-Dystonia, Infantile PMID:21112253 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:2415 NM_032409.2(PINK1):c.1366C>T (p.Gln456Ter) NCBITaxon:9606 Homo sapiens NCBIGene:100861548 PINK1-AS GENO:0000840 pathogenic_for_condition OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset PMID:16769864|PMID:18685134 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:97000 NM_000345.3(SNCA):c.152G>A (p.Gly51Asp) NCBITaxon:9606 Homo sapiens NCBIGene:6622 SNCA GENO:0000840 pathogenic_for_condition OMIM:168601 Parkinson disease 1 PMID:23526723 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:97016 NM_001044.4(SLC6A3):c.1031+1G>A NCBITaxon:9606 Homo sapiens NCBIGene:6531 SLC6A3 GENO:0000840 pathogenic_for_condition OMIM:613135 Parkinsonism-Dystonia, Infantile PMID:21112253 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:66099 NM_022089.3(ATP13A2):c.2629G>A (p.Gly877Arg) NCBITaxon:9606 Homo sapiens NCBIGene:23400 ATP13A2 GENO:0000840 pathogenic_for_condition OMIM:606693 Parkinson disease 9 PMID:20853184 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:66098 NM_022089.3(ATP13A2):c.2561T>G (p.Met854Arg) NCBITaxon:9606 Homo sapiens NCBIGene:23400 ATP13A2 GENO:0000840 pathogenic_for_condition OMIM:606693 Parkinson disease 9 PMID:22388936|PMID:495089 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +OMIM:163890.0003 SNCA, TRIPLICATION NCBITaxon:9606 Homo sapiens NCBIGene:6622 SNCA OMIM:168601 Parkinson disease 1 http://data.monarchinitiative.org/ttl/coriell.ttl inferred +ClinVarVariant:2414 NM_032409.2(PINK1):c.650C>A (p.Ala217Asp) NCBITaxon:9606 Homo sapiens NCBIGene:102464833 MIR6084 GENO:0000840 pathogenic_for_condition OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset PMID:16966503 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +OMIM:602544.0017 PARK2, ARG275TRP NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred +ClinVarVariant:216934 NM_001103146.1(GIGYF2):c.2378C>T (p.Ala793Val) NCBITaxon:9606 Homo sapiens NCBIGene:26058 GIGYF2 GENO:0000841 likely_pathogenic_for_condition OMIM:607688 Parkinson disease 11 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:2413 NM_032409.2(PINK1):c.938C>T (p.Thr313Met) NCBITaxon:9606 Homo sapiens NCBIGene:100861548 PINK1-AS GENO:0000840 pathogenic_for_condition OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset PMID:17030667 http://data.monarchinitiative.org/ttl/clinvar.ttl direct NCBIGene:170534 PARK10 NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:606852 PARK10 ECO:0000177 genomic context evidence http://data.monarchinitiative.org/ttl/omim.ttl direct -ClinVarVariant:66099 NM_022089.3(ATP13A2):c.2629G>A (p.Gly877Arg) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:606693 Parkinson disease 9 PMID:20853184 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:97016 NM_001044.4(SLC6A3):c.1031+1G>A NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:613135 Parkinsonism-Dystonia, Infantile PMID:21112253 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:2414 NM_032409.2(PINK1):c.650C>A (p.Ala217Asp) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset PMID:16966503 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:66098 NM_022089.3(ATP13A2):c.2561T>G (p.Met854Arg) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:606693 Parkinson disease 9 PMID:22388936|PMID:495089 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -OMIM:163890.0003 SNCA, TRIPLICATION OMIM:168601 Parkinson disease 1 http://data.monarchinitiative.org/ttl/coriell.ttl inferred -ClinVarVariant:97017 NM_001044.4(SLC6A3):c.671T>C (p.Leu224Pro) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:613135 Parkinsonism-Dystonia, Infantile PMID:21112253 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:97000 NM_000345.3(SNCA):c.152G>A (p.Gly51Asp) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:168601 Parkinson disease 1 PMID:23526723 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:2415 NM_032409.2(PINK1):c.1366C>T (p.Gln456Ter) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset PMID:16769864|PMID:18685134 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:218942 NM_005397.3(PODXL):c.89_90insGTCGCCCC (p.Gln32Profs) NCBITaxon:9606 Homo sapiens GENO:0000841 likely_pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:26864383 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7046 NM_004562.2(PARK2):c.635G>A (p.Cys212Tyr) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:12056932|PMID:11163284 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:189240 NM_032409.2(PINK1):c.620delG (p.Arg207Glnfs) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7047 NM_004562.2(PARK2):c.167T>A (p.Val56Glu) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:12056932 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:7048 PARK2, 1-BP DEL, 255A NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile PMID:10072423|PMID:12056932 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:39183 NM_198578.3(LRRK2):c.4309A>C (p.Asn1437His) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:30366 NM_003560.2(PLA2G6):c.1904G>A (p.Arg635Gln) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:612953 Parkinson disease 14 PMID:20938027 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:30367 NM_003560.2(PLA2G6):c.1354C>T (p.Gln452Ter) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:612953 Parkinson disease 14 PMID:20938027 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:2412 NM_005216.4(DDOST):c.*807_*5409del NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset PMID:15955953 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:60700 NM_007262.4(PARK7):c.-24+75_-24+92dup NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:606324 Parkinson disease 7 PMID:16240358 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:2410 PINK1, 3-BP INS, 1602CAA NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset PMID:15970950 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:2411 NM_032409.2(PINK1):c.836G>A (p.Arg279His) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset PMID:18704525|PMID:15970950 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:225276 NM_198578.3(LRRK2):c.4321C>A (p.Arg1441Ser) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:168600 Parkinson Disease, Late-Onset PMID:27111571 http://data.monarchinitiative.org/ttl/clinvar.ttl direct -ClinVarVariant:39164 NM_198578.3(LRRK2):c.3342A>G (p.Leu1114=) NCBITaxon:9606 Homo sapiens GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:2412 NM_005216.4(DDOST):c.*807_*5409del NCBITaxon:9606 Homo sapiens NCBIGene:100861548 PINK1-AS GENO:0000840 pathogenic_for_condition OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset PMID:15955953 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:60700 NM_007262.4(PARK7):c.-24+75_-24+92dup NCBITaxon:9606 Homo sapiens NCBIGene:11315 PARK7 GENO:0000840 pathogenic_for_condition OMIM:606324 Parkinson disease 7 PMID:16240358 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:222070 NM_020821.2(VPS13C):c.4165G>C (p.Gly1389Arg) NCBITaxon:9606 Homo sapiens NCBIGene:54832 VPS13C GENO:0000840 pathogenic_for_condition OMIM:616840 Parkinson Disease 23, Autosomal Recessive Early-Onset PMID:26942284 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:97018 NM_001044.4(SLC6A3):c.1561C>T (p.Arg521Trp) NCBITaxon:9606 Homo sapiens NCBIGene:6531 SLC6A3 GENO:0000840 pathogenic_for_condition OMIM:613135 Parkinsonism-Dystonia, Infantile PMID:21112253 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:1220 ATP13A2, 22-BP DUP NCBITaxon:9606 Homo sapiens NCBIGene:23400 ATP13A2 GENO:0000840 pathogenic_for_condition OMIM:606693 Parkinson disease 9 PMID:16964263|PMID:21724849 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:222071 NM_020821.2(VPS13C):c.4777delC (p.Gln1593Lysfs) NCBITaxon:9606 Homo sapiens NCBIGene:54832 VPS13C GENO:0000840 pathogenic_for_condition OMIM:616840 Parkinson Disease 23, Autosomal Recessive Early-Onset PMID:26942284 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:1221 NM_022089.3(ATP13A2):c.1510G>C (p.Gly504Arg) NCBITaxon:9606 Homo sapiens NCBIGene:23400 ATP13A2 GENO:0000840 pathogenic_for_condition OMIM:606693 Parkinson disease 9 PMID:17485642 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:4810 NM_012179.3(FBXO7):c.1144+1G>T NCBITaxon:9606 Homo sapiens NCBIGene:25793 FBXO7 GENO:0000840 pathogenic_for_condition OMIM:260300 autosomal recessive early-onset Parkinson disease 15 PMID:19038853 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:30368 PLA2G6, PHE72LEU NCBITaxon:9606 Homo sapiens NCBIGene:8398 PLA2G6 GENO:0000840 pathogenic_for_condition OMIM:612953 Adult-onset dystonia-parkinsonism PMID:20938027 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +OMIM:602544.0014 PARK2, 1-BP DEL, 255A NCBITaxon:9606 Homo sapiens NCBIGene:5071 PARK2 OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred +ClinVarVariant:2411 NM_032409.2(PINK1):c.836G>A (p.Arg279His) NCBITaxon:9606 Homo sapiens NCBIGene:100861548 PINK1-AS GENO:0000840 pathogenic_for_condition OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset PMID:18704525|PMID:15970950 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:225276 NM_198578.3(LRRK2):c.4321C>A (p.Arg1441Ser) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 GENO:0000840 pathogenic_for_condition OMIM:168600 Parkinson Disease, Late-Onset PMID:27111571 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:39164 NM_198578.3(LRRK2):c.3342A>G (p.Leu1114=) NCBITaxon:9606 Homo sapiens NCBIGene:120892 LRRK2 GENO:0000840 pathogenic_for_condition OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct +ClinVarVariant:2410 PINK1, 3-BP INS, 1602CAA NCBITaxon:9606 Homo sapiens NCBIGene:102464833 MIR6084 GENO:0000840 pathogenic_for_condition OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset PMID:15970950 http://data.monarchinitiative.org/ttl/clinvar.ttl direct