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comparison test-data/variants-for-diseases-union.tsv @ 7:61d8060bf2ed draft

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planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
author nathandunn
date Mon, 22 Aug 2016 12:41:24 -0400
parents 850bb90bd667
children 5fa1f0ca69cc
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6:307ec8cd152e 7:61d8060bf2ed
1 ClinVarVariant:39148 NM_198578.3(LRRK2):c.2264C>T (p.Pro755Leu) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 1 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
2 ClinVarVariant:7051 NM_004562.2(PARK2):c.633A>T (p.Lys211Asn) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/clinvar.ttl direct 2 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
3 ClinVarVariant:1936 NM_198578.3(LRRK2):c.4321C>G (p.Arg1441Gly) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 3 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
4 ClinVarVariant:4810 NM_012179.3(FBXO7):c.1144+1G>T NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:260300 autosomal recessive early-onset Parkinson disease 15 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 4 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
5 ClinVarVariant:39147 NM_198578.3(LRRK2):c.225G>A (p.Ala75=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 5 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
6 ClinVarVariant:39234 NM_198578.3(LRRK2):c.7155A>G (p.Gly2385=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 6 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
7 ClinVarVariant:2412 NM_005216.4(DDOST):c.*807_*5409del NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct 7 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
8 ClinVarVariant:7050 NM_004562.2(PARK2):c.823C>T (p.Arg275Trp) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/clinvar.ttl direct 8 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
9 ClinVarVariant:9695 m.14319T>C NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct 9 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
10 ClinVarVariant:39128 NM_198578.3(LRRK2):c.1000G>A (p.Glu334Lys) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 10 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
11 ClinVarVariant:39215 NM_198578.3(LRRK2):c.5620G>T (p.Glu1874Ter) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 11 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
12 ClinVarVariant:39195 NM_198578.3(LRRK2):c.4793T>A (p.Val1598Glu) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 12 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
13 ClinVarVariant:209135 NM_022089.3(ATP13A2):c.348-9_351del NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:606693 Kufor-Rakeb syndrome http://data.monarchinitiative.org/ttl/clinvar.ttl direct 13 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
14 ClinVarVariant:4809 NM_012179.3(FBXO7):c.1492C>T (p.Arg498Ter) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:260300 autosomal recessive early-onset Parkinson disease 15 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 14 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
15 ClinVarVariant:39214 NM_198578.3(LRRK2):c.5610G>T (p.Leu1870Phe) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 15 OMIM:602544.0002 PARK2, EX4DEL OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/coriell.ttl inferred
16 ClinVarVariant:143196 NM_022089.3(ATP13A2):c.490C>T (p.Arg164Trp) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:606693 Kufor-Rakeb syndrome http://data.monarchinitiative.org/ttl/clinvar.ttl direct 16 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
17 ClinVarVariant:39194 NM_198578.3(LRRK2):c.4666C>A (p.Leu1556Ile) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 17 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
18 ClinVarVariant:7042 NM_004562.2(PARK2):c.1358G>A (p.Trp453Ter) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct 18 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
19 ClinVarVariant:9695 m.14319T>C NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct 19 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
20 ClinVarVariant:39213 NM_198578.3(LRRK2):c.5606T>C (p.Met1869Thr) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 20 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
21 ClinVarVariant:39193 NM_198578.3(LRRK2):c.4624C>T (p.Pro1542Ser) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 21 OMIM:602544.0011 PARK2, ALA82GLU OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
22 NCBIGene:677662 PARK12 NCBITaxon:9606 Homo sapiens RO:0002326 contributes to NCBIGene:677662 PARK12 ECO:0000177 genomic context evidence http://data.monarchinitiative.org/ttl/omim.ttl direct 22 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
23 ClinVarVariant:39192 NM_198578.3(LRRK2):c.457T>C (p.Leu153=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 23 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
24 ClinVarVariant:39212 NM_198578.3(LRRK2):c.5605A>G (p.Met1869Val) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 24 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
25 NCBIGene:5072 PARK3 NCBITaxon:9606 Homo sapiens RO:0002326 contributes to NCBIGene:5072 PARK3 ECO:0000177 genomic context evidence http://data.monarchinitiative.org/ttl/omim.ttl direct 25 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
26 ClinVarVariant:4808 NM_012179.3(FBXO7):c.1132C>G (p.Arg378Gly) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:260300 autosomal recessive early-onset Parkinson disease 15 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 26 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
27 ClinVarVariant:39191 NM_198578.3(LRRK2):c.4541G>A (p.Arg1514Gln) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 27 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
28 ClinVarVariant:30371 NM_003560.2(PLA2G6):c.991G>T (p.Asp331Tyr) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:612953 Parkinson Disease 14, Autosomal Recessive http://data.monarchinitiative.org/ttl/clinvar.ttl direct 28 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
29 ClinVarVariant:39238 NM_198578.3(LRRK2):c.7190T= (p.Met2397=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 29 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
30 ClinVarVariant:7053 NM_004562.2(PARK2):c.7+1G>T NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/clinvar.ttl direct 30 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
31 ClinVarVariant:50354 NM_004562.2(PARK2):c.1292G>T (p.Cys431Phe) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct 31 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
32 ClinVarVariant:2404 NM_032409.2(PINK1):c.926G>A (p.Gly309Asp) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct 32 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
33 ClinVarVariant:39237 NM_198578.3(LRRK2):c.7186_7187dupGT (p.Met2397Terfs) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 33 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
34 ClinVarVariant:1937 NM_198578.3(LRRK2):c.5096A>G (p.Tyr1699Cys) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 34 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
35 ClinVarVariant:4811 NM_012179.3(FBXO7):c.65C>T (p.Thr22Met) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:260300 autosomal recessive early-onset Parkinson disease 15 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 35 OMIM:602544.0005 PARK2, EX3DEL OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
36 ClinVarVariant:7052 PARK2, 1-BP DEL, 1072T NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/clinvar.ttl direct 36 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
37 ClinVarVariant:39149 NM_198578.3(LRRK2):c.2378G>T (p.Arg793Met) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 37 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
38 ClinVarVariant:39236 NM_198578.3(LRRK2):c.7183G>A (p.Glu2395Lys) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 38 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
39 ClinVarVariant:8113 NM_002973.3(ATXN2):c.496_498CAG(15_24) (p.Gln188_Pro189insGlnGln) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct 39 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
40 ClinVarVariant:39235 NM_198578.3(LRRK2):c.7168G>A (p.Val2390Met) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 40 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
41 ClinVarVariant:12298 NM_004181.4(UCHL1):c.53C>A (p.Ser18Tyr) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:613643 Parkinson Disease 5, Autosomal Dominant, Susceptibility to http://data.monarchinitiative.org/ttl/clinvar.ttl direct 41 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
42 ClinVarVariant:39211 NM_198578.3(LRRK2):c.546A>G (p.Lys182=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 42 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
43 ClinVarVariant:7048 PARK2, 1-BP DEL, 255A NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
44 ClinVarVariant:4342 NM_013247.4(HTRA2):c.421G>T (p.Ala141Ser) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
45 ClinVarVariant:12297 NM_004181.4(UCHL1):c.279C>G (p.Ile93Met) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:613643 Parkinson Disease 5, Autosomal Dominant, Susceptibility to http://data.monarchinitiative.org/ttl/clinvar.ttl direct
46 ClinVarVariant:7050 NM_004562.2(PARK2):c.823C>T (p.Arg275Trp) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
47 ClinVarVariant:9726 m.3397A>G NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
48 ClinVarVariant:7055 PARK2, EX5-6 DEL NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/clinvar.ttl direct
49 ClinVarVariant:39210 NM_198578.3(LRRK2):c.5467C>A (p.Gln1823Lys) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
50 ClinVarVariant:39190 NM_198578.3(LRRK2):c.4448G>A (p.Arg1483Gln) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
51 ClinVarVariant:39239 NM_198578.3(LRRK2):c.7224G>A (p.Met2408Ile) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
52 ClinVarVariant:29936 NM_012084.3(GLUD2):c.1492T>G (p.Ser498Ala) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
53 ClinVarVariant:4885 FGF20, 951C/T NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
54 ClinVarVariant:1939 NM_198578.3(LRRK2):c.3364A>G (p.Ile1122Val) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
55 ClinVarVariant:39233 NM_198578.3(LRRK2):c.713A>T (p.Asn238Ile) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
56 ClinVarVariant:39146 NM_198578.3(LRRK2):c.2167A>G (p.Ile723Val) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
57 ClinVarVariant:7035 NM_004562.2(PARK2):c.413-?_534+?del NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
58 ClinVarVariant:98243 NM_016835.4(MAPT):c.1838_1840delATA (p.Asn613del) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
59 ClinVarVariant:9579 m.8344A>G NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:556500 Parkinson Disease, Mitochondrial http://data.monarchinitiative.org/ttl/clinvar.ttl direct
60 ClinVarVariant:7064 NM_007262.4(PARK7):c.497T>C (p.Leu166Pro) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
61 ClinVarVariant:39232 NM_198578.3(LRRK2):c.7067C>T (p.Thr2356Ile) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
62 ClinVarVariant:39145 NM_198578.3(LRRK2):c.2147C>T (p.Ala716Val) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
63 ClinVarVariant:4295 NM_001005741.2(GBA):c.1504C>T (p.Arg502Cys) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
64 ClinVarVariant:18181 NM_000669.4(ADH1C):c.232G>T (p.Gly78Ter) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:556500 Parkinson Disease, Mitochondrial http://data.monarchinitiative.org/ttl/clinvar.ttl direct
65 ClinVarVariant:39231 NM_198578.3(LRRK2):c.683G>C (p.Cys228Ser) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
66 ClinVarVariant:39144 NM_198578.3(LRRK2):c.2134A>G (p.Met712Val) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
67 ClinVarVariant:7040 NM_004562.2(PARK2):c.8-?_171+?del NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
68 ClinVarVariant:39143 NM_198578.3(LRRK2):c.2022A>C (p.Val674=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
69 ClinVarVariant:7043 NM_004562.2(PARK2):c.483A>T (p.Lys161Asn) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
70 ClinVarVariant:39230 NM_198578.3(LRRK2):c.6782A>T (p.Asn2261Ile) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
71 ClinVarVariant:6204 NM_003560.2(PLA2G6):c.2239C>T (p.Arg747Trp) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:612953 Parkinson Disease 14, Autosomal Recessive http://data.monarchinitiative.org/ttl/clinvar.ttl direct
72 ClinVarVariant:2409 NM_032409.2(PINK1):c.1570_1573dupTTAG (p.Asp525Valfs) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
73 ClinVarVariant:39221 NM_198578.3(LRRK2):c.6241A>G (p.Asn2081Asp) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
74 ClinVarVariant:2407 NM_032409.2(PINK1):c.736C>T (p.Arg246Ter) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
75 ClinVarVariant:39134 NM_198578.3(LRRK2):c.149A>G (p.His50Arg) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
76 ClinVarVariant:6203 NM_003560.2(PLA2G6):c.2222G>A (p.Arg741Gln) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:612953 Parkinson Disease 14, Autosomal Recessive http://data.monarchinitiative.org/ttl/clinvar.ttl direct
77 ClinVarVariant:30583 NM_013247.4(HTRA2):c.427C>G (p.Pro143Ala) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
78 ClinVarVariant:39132 NM_198578.3(LRRK2):c.1383T= (p.Ser461=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
79 ClinVarVariant:2408 NM_032409.2(PINK1):c.1040T>C (p.Leu347Pro) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
80 ClinVarVariant:39220 NM_198578.3(LRRK2):c.6187_6191delCTCTA (p.Leu2063Terfs) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
81 ClinVarVariant:39133 NM_198578.3(LRRK2):c.1464A>T (p.Leu488=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
82 ClinVarVariant:56171 NM_015268.3(DNAJC13):c.2564A>G (p.Asn855Ser) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
83 ClinVarVariant:39243 NM_198578.3(LRRK2):c.825T= (p.His275=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
84 ClinVarVariant:755 NM_015575.3(GIGYF2):c.1818C>G (p.Asp606Glu) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607688 Parkinson Disease 11, Autosomal Dominant, Susceptibility to http://data.monarchinitiative.org/ttl/clinvar.ttl direct
85 ClinVarVariant:39156 NM_198578.3(LRRK2):c.2857T>C (p.Leu953=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
86 ClinVarVariant:14009 SNCA, TRIPLICATION NCBITaxon:9606 Homo sapiens OMIM:168601 autosomal dominant Parkinson disease 1 http://data.monarchinitiative.org/ttl/coriell.ttl inferred
87 ClinVarVariant:7046 NM_004562.2(PARK2):c.635G>A (p.Cys212Tyr) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
88 ClinVarVariant:6144 NR_002717.2(ATXN8OS):n.1103_1105CTG(15_40) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
89 NCBIGene:100359403 PARK16 NCBITaxon:9606 Homo sapiens RO:0002326 contributes to NCBIGene:100359403 PARK16 ECO:0000177 genomic context evidence http://data.monarchinitiative.org/ttl/omim.ttl direct
90 ClinVarVariant:1942 NM_198578.3(LRRK2):c.4322G>A (p.Arg1441His) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
91 ClinVarVariant:29685 NM_001044.4(SLC6A3):c.1269+1G>A NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:613135 Parkinsonism-Dystonia, Infantile http://data.monarchinitiative.org/ttl/clinvar.ttl direct
92 ClinVarVariant:9054 NM_021074.4(NDUFV2):c.86T>C (p.Val29Ala) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:556500 Parkinson Disease, Mitochondrial http://data.monarchinitiative.org/ttl/clinvar.ttl direct
93 ClinVarVariant:39155 NM_198578.3(LRRK2):c.2830G>T (p.Asp944Tyr) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
94 ClinVarVariant:754 NM_015575.3(GIGYF2):c.1370A>C (p.Asn457Thr) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607688 Parkinson Disease 11, Autosomal Dominant, Susceptibility to http://data.monarchinitiative.org/ttl/clinvar.ttl direct
95 ClinVarVariant:39242 NM_198578.3(LRRK2):c.7468delC (p.Gln2490Asnfs) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
96 ClinVarVariant:41223 NM_004562.2(PARK2):c.500G>A (p.Ser167Asn) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
97 ClinVarVariant:757 NM_015575.3(GIGYF2):c.1262A>G (p.Lys421Arg) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607688 Parkinson Disease 11, Autosomal Dominant, Susceptibility to http://data.monarchinitiative.org/ttl/clinvar.ttl direct
98 ClinVarVariant:39158 NM_198578.3(LRRK2):c.2918G>A (p.Ser973Asn) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
99 ClinVarVariant:41222 NM_004562.2(PARK2):c.1180G>A (p.Asp394Asn) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/clinvar.ttl direct
100 ClinVarVariant:66098 NM_022089.3(ATP13A2):c.2561T>G (p.Met854Arg) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:606693 Kufor-Rakeb syndrome http://data.monarchinitiative.org/ttl/clinvar.ttl direct
101 ClinVarVariant:39167 NM_198578.3(LRRK2):c.356T>C (p.Leu119Pro) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
102 ClinVarVariant:2405 NM_032409.2(PINK1):c.813C>A (p.His271Gln) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
103 ClinVarVariant:2414 NM_032409.2(PINK1):c.650C>A (p.Ala217Asp) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
104 ClinVarVariant:41223 NM_004562.2(PARK2):c.500G>A (p.Ser167Asn) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/clinvar.ttl direct
105 ClinVarVariant:39169 NM_198578.3(LRRK2):c.3647A>G (p.His1216Arg) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
106 ClinVarVariant:7038 NM_004562.2(PARK2):c.245C>A (p.Ala82Glu) NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
107 ClinVarVariant:97017 NM_001044.4(SLC6A3):c.671T>C (p.Leu224Pro) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:613135 Parkinsonism-Dystonia, Infantile http://data.monarchinitiative.org/ttl/clinvar.ttl direct
108 ClinVarVariant:97000 NM_000345.3(SNCA):c.152G>A (p.Gly51Asp) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168601 autosomal dominant Parkinson disease 1 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
109 ClinVarVariant:2415 NM_032409.2(PINK1):c.1366C>T (p.Gln456Ter) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
110 ClinVarVariant:2412 NM_005216.4(DDOST):c.*807_*5409del NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
111 ClinVarVariant:60700 NM_007262.4(PARK7):c.-24+75_-24+92dup NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:606324 Parkinson Disease 7, Autosomal Recessive Early-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
112 ClinVarVariant:39165 NM_198578.3(LRRK2):c.3451G>A (p.Ala1151Thr) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
113 ClinVarVariant:96731 NM_198578.3(LRRK2):c.7300A>G (p.Ile2434Val) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
114 ClinVarVariant:216934 NM_001103146.1(GIGYF2):c.2378C>T (p.Ala793Val) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607688 Parkinson Disease 11, Autosomal Dominant, Susceptibility to http://data.monarchinitiative.org/ttl/clinvar.ttl direct
115 ClinVarVariant:2413 NM_032409.2(PINK1):c.938C>T (p.Thr313Met) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
116 ClinVarVariant:41221 NM_004562.2(PARK2):c.1138G>C (p.Val380Leu) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/clinvar.ttl direct
117 ClinVarVariant:39166 NM_198578.3(LRRK2):c.3494T>C (p.Leu1165Pro) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
118 ClinVarVariant:41220 NM_004562.2(PARK2):c.1096C>T (p.Arg366Trp) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/clinvar.ttl direct
119 ClinVarVariant:4342 NM_013247.4(HTRA2):c.421G>T (p.Ala141Ser) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:610297 Parkinson Disease 13, Autosomal Dominant, Susceptibility to http://data.monarchinitiative.org/ttl/clinvar.ttl direct
120 ClinVarVariant:2410 PINK1, 3-BP INS, 1602CAA NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
121 ClinVarVariant:7065 NM_007262.4(PARK7):c.78G>A (p.Met26Ile) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
122 ClinVarVariant:7036 NM_004562.2(PARK2):c.719C>G (p.Thr240Arg) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
123 ClinVarVariant:39163 NM_198578.3(LRRK2):c.3333G>T (p.Gln1111His) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
124 ClinVarVariant:2405 NM_032409.2(PINK1):c.813C>A (p.His271Gln) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
125 ClinVarVariant:39246 NM_198578.3(LRRK2):c.936G>T (p.Ala312=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
126 ClinVarVariant:14009 SNCA, TRIPLICATION NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:605543 Parkinson Disease 4, Autosomal Dominant http://data.monarchinitiative.org/ttl/clinvar.ttl direct
127 ClinVarVariant:39159 NM_198578.3(LRRK2):c.3018A>G (p.Ile1006Met) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
128 ClinVarVariant:39244 NM_198578.3(LRRK2):c.867C= (p.Asn289=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
129 ClinVarVariant:756 NM_015575.3(GIGYF2):c.832A>G (p.Ile278Val) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607688 Parkinson Disease 11, Autosomal Dominant, Susceptibility to http://data.monarchinitiative.org/ttl/clinvar.ttl direct
130 ClinVarVariant:39157 NM_198578.3(LRRK2):c.28G>A (p.Glu10Lys) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
131 ClinVarVariant:2404 NM_032409.2(PINK1):c.926G>A (p.Gly309Asp) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
132 ClinVarVariant:39245 NM_198578.3(LRRK2):c.894T>C (p.Ala298=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
133 ClinVarVariant:97016 NM_001044.4(SLC6A3):c.1031+1G>A NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:613135 Parkinsonism-Dystonia, Infantile http://data.monarchinitiative.org/ttl/clinvar.ttl direct
134 ClinVarVariant:3551 NM_004993.5(ATXN3):c.892_894CAG(8_36) (p.Gln298_Gln305=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
135 ClinVarVariant:39168 NM_198578.3(LRRK2):c.3574A>G (p.Ile1192Val) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
136 ClinVarVariant:66099 NM_022089.3(ATP13A2):c.2629G>A (p.Gly877Arg) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:606693 Kufor-Rakeb syndrome http://data.monarchinitiative.org/ttl/clinvar.ttl direct
137 ClinVarVariant:4341 NM_013247.4(HTRA2):c.1195G>A (p.Gly399Ser) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:610297 Parkinson Disease 13, Autosomal Dominant, Susceptibility to http://data.monarchinitiative.org/ttl/clinvar.ttl direct
138 ClinVarVariant:9571 m.15965A>G NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:556500 Parkinson Disease, Mitochondrial http://data.monarchinitiative.org/ttl/clinvar.ttl direct
139 ClinVarVariant:2411 NM_032409.2(PINK1):c.836G>A (p.Arg279His) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
140 ClinVarVariant:2413 NM_032409.2(PINK1):c.938C>T (p.Thr313Met) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
141 ClinVarVariant:39164 NM_198578.3(LRRK2):c.3342A>G (p.Leu1114=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
142 ClinVarVariant:96729 NM_032409.2(PINK1):c.923T>A (p.Leu308Gln) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
143 ClinVarVariant:39161 NM_198578.3(LRRK2):c.3200G>A (p.Arg1067Gln) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
144 ClinVarVariant:39189 NM_198578.3(LRRK2):c.4402A>G (p.Lys1468Glu) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
145 ClinVarVariant:39209 NM_198578.3(LRRK2):c.5457T>C (p.Gly1819=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
146 ClinVarVariant:39160 NM_198578.3(LRRK2):c.3021T= (p.Ser1007=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
147 ClinVarVariant:9559 m.15950G>A NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:556500 Parkinson Disease, Mitochondrial http://data.monarchinitiative.org/ttl/clinvar.ttl direct
148 ClinVarVariant:7044 PARK2, 1-BP DEL, 202A NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
149 ClinVarVariant:39206 NM_198578.3(LRRK2):c.5183G>A (p.Arg1728His) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
150 ClinVarVariant:30368 PLA2G6, PHE72LEU NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:612953 Parkinson Disease 14, Autosomal Recessive http://data.monarchinitiative.org/ttl/clinvar.ttl direct
151 ClinVarVariant:39186 NM_198578.3(LRRK2):c.4337C>T (p.Pro1446Leu) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
152 ClinVarVariant:7052 PARK2, 1-BP DEL, 1072T NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
153 ClinVarVariant:39162 NM_198578.3(LRRK2):c.3287C>G (p.Ser1096Cys) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
154 ClinVarVariant:96730 NM_198578.3(LRRK2):c.2352C>A (p.Ser784Arg) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
155 ClinVarVariant:39278 NM_198578.3(LRRK2):c.6523G>C (p.Asp2175His) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
156 ClinVarVariant:7035 NM_004562.2(PARK2):c.413-?_534+?del NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
157 ClinVarVariant:39208 NM_198578.3(LRRK2):c.5385G>T (p.Leu1795Phe) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
158 ClinVarVariant:30583 NM_013247.4(HTRA2):c.427C>G (p.Pro143Ala) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:610297 Parkinson Disease 13, Autosomal Dominant, Susceptibility to http://data.monarchinitiative.org/ttl/clinvar.ttl direct
159 ClinVarVariant:39188 NM_198578.3(LRRK2):c.4364_4365delAT (p.Asp1455Glyfs) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
160 ClinVarVariant:41221 NM_004562.2(PARK2):c.1138G>C (p.Val380Leu) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
161 ClinVarVariant:39187 NM_198578.3(LRRK2):c.4348G>A (p.Val1450Ile) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
162 ClinVarVariant:96728 NM_032409.2(PINK1):c.644C>T (p.Pro215Leu) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
163 ClinVarVariant:38301 NM_001005741.2(GBA):c.1226A>C (p.Asn409Thr) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl|http://data.monarchinitiative.org/ttl/clinvar.ttl direct
164 ClinVarVariant:39183 NM_198578.3(LRRK2):c.4309A>C (p.Asn1437His) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
165 ClinVarVariant:2406 NM_032409.2(PINK1):c.1311G>A (p.Trp437Ter) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
166 ClinVarVariant:39184 NM_198578.3(LRRK2):c.4323C>T (p.Arg1441=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
167 ClinVarVariant:30366 NM_003560.2(PLA2G6):c.1904G>A (p.Arg635Gln) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:612953 Parkinson Disease 14, Autosomal Recessive http://data.monarchinitiative.org/ttl/clinvar.ttl direct
168 ClinVarVariant:39204 NM_198578.3(LRRK2):c.5173C>T (p.Arg1725Ter) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
169 ClinVarVariant:96727 NM_018206.4(VPS35):c.1576C>T (p.Arg526Cys) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
170 ClinVarVariant:39185 NM_198578.3(LRRK2):c.4324G>C (p.Ala1442Pro) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
171 ClinVarVariant:30367 NM_003560.2(PLA2G6):c.1354C>T (p.Gln452Ter) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:612953 Parkinson Disease 14, Autosomal Recessive http://data.monarchinitiative.org/ttl/clinvar.ttl direct
172 ClinVarVariant:39205 NM_198578.3(LRRK2):c.5174G>A (p.Arg1725Gln) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
173 ClinVarVariant:39181 NM_198578.3(LRRK2):c.4269G>A (p.Lys1423=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
174 ClinVarVariant:7046 NM_004562.2(PARK2):c.635G>A (p.Cys212Tyr) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/clinvar.ttl direct
175 ClinVarVariant:2414 NM_032409.2(PINK1):c.650C>A (p.Ala217Asp) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
176 ClinVarVariant:39201 NM_198578.3(LRRK2):c.4939T>A (p.Ser1647Thr) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
177 ClinVarVariant:189240 NM_032409.2(PINK1):c.620delG (p.Arg207Glnfs) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
178 ClinVarVariant:7047 NM_004562.2(PARK2):c.167T>A (p.Val56Glu) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/clinvar.ttl direct
179 ClinVarVariant:183259 NM_032409.2(PINK1):c.799C>T (p.Gln267Ter) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
180 ClinVarVariant:39202 NM_198578.3(LRRK2):c.4959A>G (p.Leu1653=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
181 ClinVarVariant:39182 NM_198578.3(LRRK2):c.4290C>T (p.Ala1430=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
182 ClinVarVariant:4288 NM_001005741.2(GBA):c.1448T>C (p.Leu483Pro) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
183 ClinVarVariant:7048 PARK2, 1-BP DEL, 255A NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/clinvar.ttl direct
184 ClinVarVariant:39203 NM_198578.3(LRRK2):c.5163A>G (p.Ser1721=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
185 ClinVarVariant:39151 NM_198578.3(LRRK2):c.2481T>C (p.Ser827=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
186 dbSNP:rs34778348 rs34778348-? NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
187 ClinVarVariant:2408 NM_032409.2(PINK1):c.1040T>C (p.Leu347Pro) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
188 ClinVarVariant:2410 PINK1, 3-BP INS, 1602CAA NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
189 ClinVarVariant:1936 NM_198578.3(LRRK2):c.4321C>G (p.Arg1441Gly) NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
190 ClinVarVariant:39152 NM_198578.3(LRRK2):c.2611A>G (p.Lys871Glu) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
191 ClinVarVariant:30833 NM_022089.3(ATP13A2):c.1101_1102dupGA (p.Thr368Argfs) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:606693 Kufor-Rakeb syndrome http://data.monarchinitiative.org/ttl/clinvar.ttl direct
192 ClinVarVariant:14008 NM_000345.3(SNCA):c.88G>C (p.Ala30Pro) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168601 autosomal dominant Parkinson disease 1 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
193 ClinVarVariant:39240 NM_198578.3(LRRK2):c.7397T>A (p.Leu2466His) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
194 ClinVarVariant:41220 NM_004562.2(PARK2):c.1096C>T (p.Arg366Trp) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
195 ClinVarVariant:39142 NM_198578.3(LRRK2):c.1987T>C (p.Ser663Pro) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
196 ClinVarVariant:1221 NM_022089.3(ATP13A2):c.1510G>C (p.Gly504Arg) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:606693 Kufor-Rakeb syndrome http://data.monarchinitiative.org/ttl/clinvar.ttl direct
197 ClinVarVariant:7051 NM_004562.2(PARK2):c.633A>T (p.Lys211Asn) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
198 ClinVarVariant:97018 NM_001044.4(SLC6A3):c.1561C>T (p.Arg521Trp) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:613135 Parkinsonism-Dystonia, Infantile http://data.monarchinitiative.org/ttl/clinvar.ttl direct
199 ClinVarVariant:39140 NM_198578.3(LRRK2):c.1674G= (p.Gly558=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
200 ClinVarVariant:39141 NM_198578.3(LRRK2):c.1847A>G (p.Lys616Arg) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
201 ClinVarVariant:60700 NM_007262.4(PARK7):c.-24+75_-24+92dup NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
202 ClinVarVariant:1220 ATP13A2, 22-BP DUP NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:606693 Kufor-Rakeb syndrome http://data.monarchinitiative.org/ttl/clinvar.ttl direct
203 ClinVarVariant:39153 NM_198578.3(LRRK2):c.2769G>C (p.Gln923His) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
204 ClinVarVariant:30834 NM_022089.3(ATP13A2):c.2552_2553delTT (p.Phe851Cysfs) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:606693 Kufor-Rakeb syndrome http://data.monarchinitiative.org/ttl/clinvar.ttl direct
205 ClinVarVariant:7050 NM_004562.2(PARK2):c.823C>T (p.Arg275Trp) NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
206 ClinVarVariant:39154 NM_198578.3(LRRK2):c.2789A>G (p.Gln930Arg) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
207 ClinVarVariant:753 NM_015575.3(GIGYF2):c.167A>G (p.Asn56Ser) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607688 Parkinson Disease 11, Autosomal Dominant, Susceptibility to http://data.monarchinitiative.org/ttl/clinvar.ttl direct
208 ClinVarVariant:39241 NM_198578.3(LRRK2):c.7435A>G (p.Asn2479Asp) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
209 ClinVarVariant:1941 NM_198578.3(LRRK2):c.6059T>C (p.Ile2020Thr) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
210 ClinVarVariant:12298 NM_004181.4(UCHL1):c.53C>A (p.Ser18Tyr) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
211 ClinVarVariant:7064 NM_007262.4(PARK7):c.497T>C (p.Leu166Pro) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:606324 Parkinson Disease 7, Autosomal Recessive Early-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
212 ClinVarVariant:39176 NM_198578.3(LRRK2):c.4111A>G (p.Ile1371Val) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
213 ClinVarVariant:39175 NM_198578.3(LRRK2):c.3974G>A (p.Arg1325Gln) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
214 ClinVarVariant:7065 NM_007262.4(PARK7):c.78G>A (p.Met26Ile) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:606324 Parkinson Disease 7, Autosomal Recessive Early-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
215 ClinVarVariant:39177 NM_198578.3(LRRK2):c.4125C>A (p.Asp1375Glu) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
216 ClinVarVariant:30072 NM_198241.2(EIF4G1):c.3614G>A (p.Arg1205His) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:614251 Parkinson Disease 18, Autosomal Dominant, Susceptibility to http://data.monarchinitiative.org/ttl/clinvar.ttl direct
217 ClinVarVariant:56171 NM_015268.3(DNAJC13):c.2564A>G (p.Asn855Ser) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:616361 Parkinson Disease 21 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
218 ClinVarVariant:162095 NM_000345.3(SNCA):c.150T>G (p.His50Gln) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168601 autosomal dominant Parkinson disease 1 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
219 ClinVarVariant:7041 NM_004562.2(PARK2):c.872-?_1083+?del NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
220 ClinVarVariant:9449 NM_003194.4(TBP):c.172_174CAG(25_42) (p.Gln95(25_42)) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
221 ClinVarVariant:30073 NM_198241.2(EIF4G1):c.1505C>T (p.Ala502Val) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:614251 Parkinson Disease 18, Autosomal Dominant, Susceptibility to http://data.monarchinitiative.org/ttl/clinvar.ttl direct
222 ClinVarVariant:39178 NM_198578.3(LRRK2):c.4193G>A (p.Arg1398His) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
223 ClinVarVariant:7048 PARK2, 1-BP DEL, 255A NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
224 ClinVarVariant:7066 NM_007262.4(PARK7):c.446A>C (p.Asp149Ala) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:606324 Parkinson Disease 7, Autosomal Recessive Early-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
225 ClinVarVariant:14007 NM_000345.3(SNCA):c.157G>A (p.Ala53Thr) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168601 autosomal dominant Parkinson disease 1 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
226 ClinVarVariant:39179 NM_198578.3(LRRK2):c.4229C>T (p.Thr1410Met) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
227 ClinVarVariant:39150 NM_198578.3(LRRK2):c.2428A>G (p.Ile810Val) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
228 ClinVarVariant:7067 NM_007262.4(PARK7):c.192G>C (p.Glu64Asp) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:606324 Parkinson Disease 7, Autosomal Recessive Early-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
229 ClinVarVariant:39171 NM_198578.3(LRRK2):c.3683G>C (p.Ser1228Thr) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
230 ClinVarVariant:7036 NM_004562.2(PARK2):c.719C>G (p.Thr240Arg) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/clinvar.ttl direct
231 ClinVarVariant:7037 NM_004562.2(PARK2):c.931C>T (p.Gln311Ter) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/clinvar.ttl direct
232 ClinVarVariant:7038 NM_004562.2(PARK2):c.245C>A (p.Ala82Glu) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/clinvar.ttl direct
233 ClinVarVariant:7047 NM_004562.2(PARK2):c.167T>A (p.Val56Glu) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
234 ClinVarVariant:39173 NM_198578.3(LRRK2):c.3784C>G (p.Pro1262Ala) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
235 ClinVarVariant:4341 NM_013247.4(HTRA2):c.1195G>A (p.Gly399Ser) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
236 ClinVarVariant:30196 NM_018206.4(VPS35):c.1858G>A (p.Asp620Asn) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:614203 Parkinson Disease 17 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
237 ClinVarVariant:183259 NM_032409.2(PINK1):c.799C>T (p.Gln267Ter) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
238 ClinVarVariant:39174 NM_198578.3(LRRK2):c.3960G>T (p.Arg1320Ser) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
239 ClinVarVariant:7063 NC_000001.10:g.(8018845_8022846)_(8037799_8044954)del NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:606324 Parkinson Disease 7, Autosomal Recessive Early-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct
240 ClinVarVariant:209136 NM_022089.3(ATP13A2):c.943G>A (p.Gly315Arg) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:606693 Kufor-Rakeb syndrome http://data.monarchinitiative.org/ttl/clinvar.ttl direct
241 ClinVarVariant:39216 NM_198578.3(LRRK2):c.5822G>A (p.Arg1941His) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
242 ClinVarVariant:39196 NM_198578.3(LRRK2):c.4838T>C (p.Val1613Ala) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
243 ClinVarVariant:39129 NM_198578.3(LRRK2):c.1088A>G (p.Asn363Ser) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
244 ClinVarVariant:7034 NM_004562.2(PARK2):c.172-?_871+?del NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
245 ClinVarVariant:50354 NM_004562.2(PARK2):c.1292G>T (p.Cys431Phe) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/clinvar.ttl direct
246 ClinVarVariant:7063 NC_000001.10:g.(8018845_8022846)_(8037799_8044954)del NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
247 ClinVarVariant:39217 NM_198578.3(LRRK2):c.6016T>C (p.Tyr2006His) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
248 ClinVarVariant:39197 NM_198578.3(LRRK2):c.4872C>A (p.Gly1624=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct
249 ClinVarVariant:2411 NM_032409.2(PINK1):c.836G>A (p.Arg279His) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
250 ClinVarVariant:2409 NM_032409.2(PINK1):c.1570_1573dupTTAG (p.Asp525Valfs) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct
251 dbSNP:rs34637584 rs34637584-A NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred 43 dbSNP:rs34637584 rs34637584-A NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
252 ClinVarVariant:39218 NM_198578.3(LRRK2):c.6035T>C (p.Ile2012Thr) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 44 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
253 NCBIGene:170534 PARK10 NCBITaxon:9606 Homo sapiens RO:0002326 contributes to NCBIGene:170534 PARK10 ECO:0000177 genomic context evidence http://data.monarchinitiative.org/ttl/omim.ttl direct 45 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
254 ClinVarVariant:7679 NR4A2, 1-BP DEL, -291T NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct 46 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
255 ClinVarVariant:7043 NM_004562.2(PARK2):c.483A>T (p.Lys161Asn) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/clinvar.ttl direct 47 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
256 ClinVarVariant:39227 NM_198578.3(LRRK2):c.6428G>A (p.Arg2143His) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 48 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
257 ClinVarVariant:88844 NM_203446.2(SYNJ1):c.773G>A (p.Arg258Gln) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:615530 Parkinson Disease 20, Early-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct 49 OMIM:606463.0003 GBA, ASN370SER OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
258 ClinVarVariant:7055 PARK2, EX5-6 DEL NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred 50 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
259 ClinVarVariant:1219 NM_022089.3(ATP13A2):c.1306+5G>A NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:606693 Kufor-Rakeb syndrome http://data.monarchinitiative.org/ttl/clinvar.ttl direct 51 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
260 ClinVarVariant:7045 NM_004562.2(PARK2):c.735-?_871+?del NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct 52 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
261 ClinVarVariant:7042 NM_004562.2(PARK2):c.1358G>A (p.Trp453Ter) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/clinvar.ttl direct 53 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
262 ClinVarVariant:39226 NM_198578.3(LRRK2):c.6422C>T (p.Thr2141Met) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 54 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
263 ClinVarVariant:39139 NM_198578.3(LRRK2):c.1653C>G (p.Asn551Lys) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 55 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
264 ClinVarVariant:96726 NM_007262.4(PARK7):c.399G>C (p.Met133Ile) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct 56 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
265 ClinVarVariant:4335 NM_001005741.2(GBA):c.1444G>A (p.Asp482Asn) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct 57 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
266 ClinVarVariant:7066 NM_007262.4(PARK7):c.446A>C (p.Asp149Ala) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct 58 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
267 ClinVarVariant:39180 NM_198578.3(LRRK2):c.4258G>A (p.Asp1420Asn) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 59 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
268 ClinVarVariant:6078 NM_005460.3(SNCAIP):c.1861C>T (p.Arg621Cys) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct 60 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
269 ClinVarVariant:7037 NM_004562.2(PARK2):c.931C>T (p.Gln311Ter) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct 61 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
270 ClinVarVariant:189240 NM_032409.2(PINK1):c.620delG (p.Arg207Glnfs) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct 62 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
271 ClinVarVariant:39200 NM_198578.3(LRRK2):c.4937T>C (p.Met1646Thr) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 63 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
272 ClinVarVariant:7045 NM_004562.2(PARK2):c.735-?_871+?del NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/clinvar.ttl direct 64 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
273 ClinVarVariant:39229 NM_198578.3(LRRK2):c.6566A>G (p.Tyr2189Cys) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 65 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
274 ClinVarVariant:39228 NM_198578.3(LRRK2):c.6510C>A (p.Gly2170=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 66 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
275 ClinVarVariant:31151 NG_031977.1:g.5321_5326GGGGCC(24_?) NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred 67 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
276 ClinVarVariant:7044 PARK2, 1-BP DEL, 202A NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/clinvar.ttl direct 68 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
277 ClinVarVariant:39136 NM_198578.3(LRRK2):c.155C>T (p.Ser52Phe) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 69 OMIM:163890.0003 SNCA, TRIPLICATION OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
278 ClinVarVariant:39223 NM_198578.3(LRRK2):c.632C>T (p.Ala211Val) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 70 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
279 ClinVarVariant:7053 NM_004562.2(PARK2):c.7+1G>T NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct 71 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
280 ClinVarVariant:16763 NM_001044.4(SLC6A3):c.1103T>A (p.Leu368Gln) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:613135 Parkinsonism-Dystonia, Infantile http://data.monarchinitiative.org/ttl/clinvar.ttl direct 72 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
281 ClinVarVariant:39222 NM_198578.3(LRRK2):c.6324G>A (p.Glu2108=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 73 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
282 ClinVarVariant:39135 NM_198578.3(LRRK2):c.1517G>A (p.Arg506Gln) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 74 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
283 ClinVarVariant:9705 m.12397A>G NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct 75 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
284 ClinVarVariant:7041 NM_004562.2(PARK2):c.872-?_1083+?del NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/clinvar.ttl direct 76 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
285 ClinVarVariant:41222 NM_004562.2(PARK2):c.1180G>A (p.Asp394Asn) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct 77 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
286 ClinVarVariant:1218 ATP13A2, 1-BP DEL, 3057C NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:606693 Kufor-Rakeb syndrome http://data.monarchinitiative.org/ttl/clinvar.ttl direct 78 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
287 ClinVarVariant:9705 m.12397A>G NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct 79 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
288 ClinVarVariant:39225 NM_198578.3(LRRK2):c.6415T>A (p.Cys2139Ser) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 80 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
289 ClinVarVariant:39138 NM_198578.3(LRRK2):c.1630A>G (p.Lys544Glu) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 81 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
290 ClinVarVariant:88855 NM_001256865.1(DNAJC6):c.2200C>T (p.Gln734Ter) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:615528 Parkinson Disease 19, Juvenile-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct 82 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
291 ClinVarVariant:39137 NM_198578.3(LRRK2):c.1561A>G (p.Arg521Gly) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 83 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
292 ClinVarVariant:88854 NM_001256864.1(DNAJC6):c.801-2A>G NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:615528 Parkinson Disease 19, Juvenile-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct 84 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
293 ClinVarVariant:7040 NM_004562.2(PARK2):c.8-?_171+?del NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/clinvar.ttl direct 85 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
294 ClinVarVariant:16764 NM_001044.4(SLC6A3):c.1184C>T (p.Pro395Leu) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:613135 Parkinsonism-Dystonia, Infantile http://data.monarchinitiative.org/ttl/clinvar.ttl direct 86 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
295 ClinVarVariant:39198 NM_198578.3(LRRK2):c.4883G>C (p.Arg1628Pro) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 87 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
296 ClinVarVariant:7034 NM_004562.2(PARK2):c.172-?_871+?del NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/clinvar.ttl direct 88 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
297 ClinVarVariant:7680 NR4A2, -245T-G NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct 89 OMIM:602544.0022 PARK2, EX5-6 DEL OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
298 ClinVarVariant:39219 NM_198578.3(LRRK2):c.6091A>T (p.Thr2031Ser) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 90 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
299 ClinVarVariant:7035 NM_004562.2(PARK2):c.413-?_534+?del NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/coriell.ttl|http://data.monarchinitiative.org/ttl/clinvar.ttl direct 91 OMIM:602544.0014 PARK2, 1-BP DEL, 255A OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
300 ClinVarVariant:39199 NM_198578.3(LRRK2):c.4911A>G (p.Lys1637=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 92 OMIM:602544.0017 PARK2, ARG275TRP OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
301 ClinVarVariant:7055 PARK2, EX5-6 DEL NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct 93 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
302 ClinVarVariant:14009 SNCA, TRIPLICATION NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred 94 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
303 ClinVarVariant:39170 NM_198578.3(LRRK2):c.364C= (p.Leu122=) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 95 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
304 ClinVarVariant:12297 NM_004181.4(UCHL1):c.279C>G (p.Ile93Met) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct 96 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
305 ClinVarVariant:39224 NM_198578.3(LRRK2):c.6356C>T (p.Pro2119Leu) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 97 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
306 ClinVarVariant:14011 SNCA, DUPLICATION NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168601 autosomal dominant Parkinson disease 1 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 98 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
307 ClinVarVariant:2407 NM_032409.2(PINK1):c.736C>T (p.Arg246Ter) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct 99 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
308 ClinVarVariant:39131 NM_198578.3(LRRK2):c.1256C>T (p.Ala419Val) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 100 OMIM:163890.0003 SNCA, TRIPLICATION OMIM:168601 Parkinson disease 1 http://data.monarchinitiative.org/ttl/coriell.ttl inferred
309 dbSNP:rs34637584 rs34637584-A NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 101 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
310 ClinVarVariant:2415 NM_032409.2(PINK1):c.1366C>T (p.Gln456Ter) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct 102 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
311 ClinVarVariant:7067 NM_007262.4(PARK7):c.192G>C (p.Glu64Asp) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct 103 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
312 ClinVarVariant:7040 NM_004562.2(PARK2):c.8-?_171+?del NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct 104 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
313 ClinVarVariant:7038 NM_004562.2(PARK2):c.245C>A (p.Ala82Glu) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype Orphanet:2828 Young-onset Parkinson disease http://data.monarchinitiative.org/ttl/clinvar.ttl direct 105 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
314 ClinVarVariant:2406 NM_032409.2(PINK1):c.1311G>A (p.Trp437Ter) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:605909 Parkinson Disease 6, Autosomal Recessive Early-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct 106 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
315 dbSNP:rs6265 rs6265-C NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/clinvar.ttl direct 107 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
316 ClinVarVariant:39130 NM_198578.3(LRRK2):c.1096G>A (p.Val366Met) NCBITaxon:9606 Homo sapiens RO:0002200 has phenotype OMIM:607060 autosomal dominant Parkinson disease 8 http://data.monarchinitiative.org/ttl/clinvar.ttl direct 108 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
109 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
110 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
111 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
112 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
113 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
114 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
115 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
116 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
117 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