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annotate 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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61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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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
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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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
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nathandunn
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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
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nathandunn
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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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
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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
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15 OMIM:602544.0002 PARK2, EX4DEL OMIM:600116 Parkinson Disease 2, Autosomal Recessive Juvenile http://data.monarchinitiative.org/ttl/coriell.ttl inferred
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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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
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21 OMIM:602544.0011 PARK2, ALA82GLU OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
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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
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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35 OMIM:602544.0005 PARK2, EX3DEL OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
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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
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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
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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
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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
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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
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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
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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
0
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43 dbSNP:rs34637584 rs34637584-A NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
7
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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
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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
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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
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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
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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
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49 OMIM:606463.0003 GBA, ASN370SER OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
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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
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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
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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
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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
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
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parents: 0
diff changeset
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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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69 OMIM:163890.0003 SNCA, TRIPLICATION OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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diff changeset
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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
89 OMIM:602544.0022 PARK2, EX5-6 DEL OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
91 OMIM:602544.0014 PARK2, 1-BP DEL, 255A OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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92 OMIM:602544.0017 PARK2, ARG275TRP OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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100 OMIM:163890.0003 SNCA, TRIPLICATION OMIM:168601 Parkinson disease 1 http://data.monarchinitiative.org/ttl/coriell.ttl inferred
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
diff changeset
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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
parents: 0
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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
61d8060bf2ed planemo upload commit cc498cdcd54060998f80018b8f2dc92345adc414
nathandunn
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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
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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
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nathandunn
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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
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nathandunn
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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
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nathandunn
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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
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nathandunn
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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
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nathandunn
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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
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nathandunn
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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