Mercurial > repos > nathandunn > monarchinitiative
view test-data/variants-for-phenotype.tsv @ 6:307ec8cd152e draft
planemo upload commit faa030eefa1a86bdf79c4ad1082fd8b5df9efd7a-dirty
| author | nathandunn |
|---|---|
| date | Wed, 29 Jun 2016 14:17:39 -0400 |
| parents | 850bb90bd667 |
| children | 61d8060bf2ed |
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ClinVarVariant:13509 NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39216 NM_198578.3(LRRK2):c.5822G>A (p.Arg1941His) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39156 NM_198578.3(LRRK2):c.2857T>C (p.Leu953=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39146 NM_198578.3(LRRK2):c.2167A>G (p.Ile723Val) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39136 NM_198578.3(LRRK2):c.155C>T (p.Ser52Phe) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39206 NM_198578.3(LRRK2):c.5183G>A (p.Arg1728His) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39246 NM_198578.3(LRRK2):c.936G>T (p.Ala312=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39236 NM_198578.3(LRRK2):c.7183G>A (p.Glu2395Lys) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39226 NM_198578.3(LRRK2):c.6422C>T (p.Thr2141Met) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39176 NM_198578.3(LRRK2):c.4111A>G (p.Ile1371Val) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39166 NM_198578.3(LRRK2):c.3494T>C (p.Leu1165Pro) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39186 NM_198578.3(LRRK2):c.4337C>T (p.Pro1446Leu) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39196 NM_198578.3(LRRK2):c.4838T>C (p.Val1613Ala) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:209135 NM_022089.3(ATP13A2):c.348-9_351del NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:755 NM_015575.3(GIGYF2):c.1818C>G (p.Asp606Glu) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000269 experimental evidence used in manual assertion PMID:18358451 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39191 NM_198578.3(LRRK2):c.4541G>A (p.Arg1514Gln) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39181 NM_198578.3(LRRK2):c.4269G>A (p.Lys1423=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39171 NM_198578.3(LRRK2):c.3683G>C (p.Ser1228Thr) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39161 NM_198578.3(LRRK2):c.3200G>A (p.Arg1067Gln) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39151 NM_198578.3(LRRK2):c.2481T>C (p.Ser827=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39141 NM_198578.3(LRRK2):c.1847A>G (p.Lys616Arg) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39131 NM_198578.3(LRRK2):c.1256C>T (p.Ala419Val) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:4808 NM_012179.3(FBXO7):c.1132C>G (p.Arg378Gly) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:12332 TH, 1-BP DEL, 291C NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:30833 NM_022089.3(ATP13A2):c.1101_1102dupGA (p.Thr368Argfs) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:12329 NM_199292.2(TH):c.826A>C (p.Thr276Pro) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:9284 NM_000161.2(GCH1):c.586G>T (p.Ala196Ser) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:9274 NM_000161.2(GCH1):c.602G>A (p.Gly201Glu) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:1218 ATP13A2, 1-BP DEL, 3057C NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:12327 NM_199292.2(TH):c.698G>A (p.Arg233His) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:4341 NM_013247.4(HTRA2):c.1195G>A (p.Gly399Ser) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:4811 NM_012179.3(FBXO7):c.65C>T (p.Thr22Met) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:9289 GCH1, IVS5, G-A, +1 NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:9279 GCH1, IVS2, G-C, +1 NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:188890 NM_000360.3(TH):c.1282C>T (p.Gln428Ter) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:753 NM_015575.3(GIGYF2):c.167A>G (p.Asn56Ser) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000269 experimental evidence used in manual assertion PMID:18358451 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:1221 NM_022089.3(ATP13A2):c.1510G>C (p.Gly504Arg) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:1941 NM_198578.3(LRRK2):c.6059T>C (p.Ile2020Thr) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:30583 NM_013247.4(HTRA2):c.427C>G (p.Pro143Ala) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39214 NM_198578.3(LRRK2):c.5610G>T (p.Leu1870Phe) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39224 NM_198578.3(LRRK2):c.6356C>T (p.Pro2119Leu) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39204 NM_198578.3(LRRK2):c.5173C>T (p.Arg1725Ter) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39174 NM_198578.3(LRRK2):c.3960G>T (p.Arg1320Ser) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39184 NM_198578.3(LRRK2):c.4323C>T (p.Arg1441=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39194 NM_198578.3(LRRK2):c.4666C>A (p.Leu1556Ile) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39144 NM_198578.3(LRRK2):c.2134A>G (p.Met712Val) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39154 NM_198578.3(LRRK2):c.2789A>G (p.Gln930Arg) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39164 NM_198578.3(LRRK2):c.3342A>G (p.Leu1114=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39134 NM_198578.3(LRRK2):c.149A>G (p.His50Arg) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39199 NM_198578.3(LRRK2):c.4911A>G (p.Lys1637=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39189 NM_198578.3(LRRK2):c.4402A>G (p.Lys1468Glu) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39179 NM_198578.3(LRRK2):c.4229C>T (p.Thr1410Met) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39169 NM_198578.3(LRRK2):c.3647A>G (p.His1216Arg) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39159 NM_198578.3(LRRK2):c.3018A>G (p.Ile1006Met) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39149 NM_198578.3(LRRK2):c.2378G>T (p.Arg793Met) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39139 NM_198578.3(LRRK2):c.1653C>G (p.Asn551Lys) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39129 NM_198578.3(LRRK2):c.1088A>G (p.Asn363Ser) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:1936 NM_198578.3(LRRK2):c.4321C>G (p.Arg1441Gly) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39244 NM_198578.3(LRRK2):c.867C= (p.Asn289=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39234 NM_198578.3(LRRK2):c.7155A>G (p.Gly2385=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:66098 NM_022089.3(ATP13A2):c.2561T>G (p.Met854Arg) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:12325 NM_199292.2(TH):c.707T>C (p.Leu236Pro) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:9277 NM_000161.2(GCH1):c.3G>C (p.Met1Ile) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:9862 TAF1, SVA RETROTRANSPOSON INSERTION NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:9272 NM_000161.2(GCH1):c.401A>T (p.Asp134Val) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39242 NM_198578.3(LRRK2):c.7468delC (p.Gln2490Asnfs) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39212 NM_198578.3(LRRK2):c.5605A>G (p.Met1869Val) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39222 NM_198578.3(LRRK2):c.6324G>A (p.Glu2108=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39232 NM_198578.3(LRRK2):c.7067C>T (p.Thr2356Ile) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39202 NM_198578.3(LRRK2):c.4959A>G (p.Leu1653=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39142 NM_198578.3(LRRK2):c.1987T>C (p.Ser663Pro) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39132 NM_198578.3(LRRK2):c.1383T= (p.Ser461=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39152 NM_198578.3(LRRK2):c.2611A>G (p.Lys871Glu) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39162 NM_198578.3(LRRK2):c.3287C>G (p.Ser1096Cys) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39182 NM_198578.3(LRRK2):c.4290C>T (p.Ala1430=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39192 NM_198578.3(LRRK2):c.457T>C (p.Leu153=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:4809 NM_012179.3(FBXO7):c.1492C>T (p.Arg498Ter) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:12330 NM_199292.2(TH):c.941C>T (p.Thr314Met) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39209 NM_198578.3(LRRK2):c.5457T>C (p.Gly1819=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39219 NM_198578.3(LRRK2):c.6091A>T (p.Thr2031Ser) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39229 NM_198578.3(LRRK2):c.6566A>G (p.Tyr2189Cys) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39239 NM_198578.3(LRRK2):c.7224G>A (p.Met2408Ile) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:13495 NM_002693.2(POLG):c.2864A>G (p.Tyr955Cys) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:209136 NM_022089.3(ATP13A2):c.943G>A (p.Gly315Arg) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:756 NM_015575.3(GIGYF2):c.832A>G (p.Ile278Val) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000269 experimental evidence used in manual assertion PMID:18358451 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39137 NM_198578.3(LRRK2):c.1561A>G (p.Arg521Gly) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39177 NM_198578.3(LRRK2):c.4125C>A (p.Asp1375Glu) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39187 NM_198578.3(LRRK2):c.4348G>A (p.Val1450Ile) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39197 NM_198578.3(LRRK2):c.4872C>A (p.Gly1624=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39147 NM_198578.3(LRRK2):c.225G>A (p.Ala75=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39157 NM_198578.3(LRRK2):c.28G>A (p.Glu10Lys) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39167 NM_198578.3(LRRK2):c.356T>C (p.Leu119Pro) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39237 NM_198578.3(LRRK2):c.7186_7187dupGT (p.Met2397Terfs) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:4342 NM_013247.4(HTRA2):c.421G>T (p.Ala141Ser) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39227 NM_198578.3(LRRK2):c.6428G>A (p.Arg2143His) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39217 NM_198578.3(LRRK2):c.6016T>C (p.Tyr2006His) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:1219 NM_022089.3(ATP13A2):c.1306+5G>A NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:216934 NM_001103146.1(GIGYF2):c.2378C>T (p.Ala793Val) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000269 experimental evidence used in manual assertion PMID:18358451 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:9275 GCH1, IVS1, A-G, -2 NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:9285 NM_000161.2(GCH1):c.404T>A (p.Ile135Lys) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:4810 NM_012179.3(FBXO7):c.1144+1G>T NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:1937 NM_198578.3(LRRK2):c.5096A>G (p.Tyr1699Cys) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:21011 NR_104387.1(TAF1):n.5894C>T NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:1939 NM_198578.3(LRRK2):c.3364A>G (p.Ile1122Val) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39140 NM_198578.3(LRRK2):c.1674G= (p.Gly558=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39130 NM_198578.3(LRRK2):c.1096G>A (p.Val366Met) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39150 NM_198578.3(LRRK2):c.2428A>G (p.Ile810Val) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39200 NM_198578.3(LRRK2):c.4937T>C (p.Met1646Thr) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39210 NM_198578.3(LRRK2):c.5467C>A (p.Gln1823Lys) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39230 NM_198578.3(LRRK2):c.6782A>T (p.Asn2261Ile) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39240 NM_198578.3(LRRK2):c.7397T>A (p.Leu2466His) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39220 NM_198578.3(LRRK2):c.6187_6191delCTCTA (p.Leu2063Terfs) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39160 NM_198578.3(LRRK2):c.3021T= (p.Ser1007=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39170 NM_198578.3(LRRK2):c.364C= (p.Leu122=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39180 NM_198578.3(LRRK2):c.4258G>A (p.Asp1420Asn) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39190 NM_198578.3(LRRK2):c.4448G>A (p.Arg1483Gln) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred dbSNP:rs34778348 rs34778348-? NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:12333 TH, -70G-A NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:13508 NM_002693.2(POLG):c.2869G>T (p.Ala957Ser) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:21866 NM_199292.2(TH):c.334G>A (p.Val112Met) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39185 NM_198578.3(LRRK2):c.4324G>C (p.Ala1442Pro) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39195 NM_198578.3(LRRK2):c.4793T>A (p.Val1598Glu) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39145 NM_198578.3(LRRK2):c.2147C>T (p.Ala716Val) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39135 NM_198578.3(LRRK2):c.1517G>A (p.Arg506Gln) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39175 NM_198578.3(LRRK2):c.3974G>A (p.Arg1325Gln) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39165 NM_198578.3(LRRK2):c.3451G>A (p.Ala1151Thr) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39155 NM_198578.3(LRRK2):c.2830G>T (p.Asp944Tyr) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39205 NM_198578.3(LRRK2):c.5174G>A (p.Arg1725Gln) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39245 NM_198578.3(LRRK2):c.894T>C (p.Ala298=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39215 NM_198578.3(LRRK2):c.5620G>T (p.Glu1874Ter) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39225 NM_198578.3(LRRK2):c.6415T>A (p.Cys2139Ser) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39235 NM_198578.3(LRRK2):c.7168G>A (p.Val2390Met) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:30834 NM_022089.3(ATP13A2):c.2552_2553delTT (p.Phe851Cysfs) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:12328 NM_199292.2(TH):c.1010G>A (p.Arg337His) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:754 NM_015575.3(GIGYF2):c.1370A>C (p.Asn457Thr) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000269 experimental evidence used in manual assertion PMID:18358451 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:1220 ATP13A2, 22-BP DUP NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:13496 NM_002693.2(POLG):c.1399G>A (p.Ala467Thr) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:143196 NM_022089.3(ATP13A2):c.490C>T (p.Arg164Trp) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:66099 NM_022089.3(ATP13A2):c.2629G>A (p.Gly877Arg) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:1942 NM_198578.3(LRRK2):c.4322G>A (p.Arg1441His) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:9283 NM_000161.2(GCH1):c.671A>G (p.Lys224Arg) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:9273 GCH1, 2-BP INS NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:9288 NM_000161.2(GCH1):c.142C>T (p.Gln48Ter) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:9278 NM_000161.2(GCH1):c.431A>C (p.His144Pro) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39148 NM_198578.3(LRRK2):c.2264C>T (p.Pro755Leu) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39138 NM_198578.3(LRRK2):c.1630A>G (p.Lys544Glu) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39128 NM_198578.3(LRRK2):c.1000G>A (p.Glu334Lys) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39178 NM_198578.3(LRRK2):c.4193G>A (p.Arg1398His) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39168 NM_198578.3(LRRK2):c.3574A>G (p.Ile1192Val) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39158 NM_198578.3(LRRK2):c.2918G>A (p.Ser973Asn) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39198 NM_198578.3(LRRK2):c.4883G>C (p.Arg1628Pro) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39188 NM_198578.3(LRRK2):c.4364_4365delAT (p.Asp1455Glyfs) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39278 NM_198578.3(LRRK2):c.6523G>C (p.Asp2175His) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39228 NM_198578.3(LRRK2):c.6510C>A (p.Gly2170=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39218 NM_198578.3(LRRK2):c.6035T>C (p.Ile2012Thr) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39238 NM_198578.3(LRRK2):c.7190T= (p.Met2397=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39208 NM_198578.3(LRRK2):c.5385G>T (p.Leu1795Phe) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:13514 NM_002693.2(POLG):c.1532G>A (p.Ser511Asn) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:12326 NM_199292.2(TH):c.1481C>T (p.Thr494Met) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39213 NM_198578.3(LRRK2):c.5606T>C (p.Met1869Thr) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39203 NM_198578.3(LRRK2):c.5163A>G (p.Ser1721=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39243 NM_198578.3(LRRK2):c.825T= (p.His275=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39233 NM_198578.3(LRRK2):c.713A>T (p.Asn238Ile) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39223 NM_198578.3(LRRK2):c.632C>T (p.Ala211Val) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39173 NM_198578.3(LRRK2):c.3784C>G (p.Pro1262Ala) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39163 NM_198578.3(LRRK2):c.3333G>T (p.Gln1111His) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39183 NM_198578.3(LRRK2):c.4309A>C (p.Asn1437His) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39193 NM_198578.3(LRRK2):c.4624C>T (p.Pro1542Ser) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39143 NM_198578.3(LRRK2):c.2022A>C (p.Val674=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39133 NM_198578.3(LRRK2):c.1464A>T (p.Leu488=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39153 NM_198578.3(LRRK2):c.2769G>C (p.Gln923His) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred dbSNP:rs34637584 rs34637584-A NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:757 NM_015575.3(GIGYF2):c.1262A>G (p.Lys421Arg) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000269 experimental evidence used in manual assertion PMID:18358451 http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:9291 GCH1, DEL NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:9271 NM_000161.2(GCH1):c.262C>T (p.Arg88Trp) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:12324 NM_199292.2(TH):c.1234C>A (p.Gln412Lys) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:12334 NM_199292.2(TH):c.1076G>T (p.Cys359Phe) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39231 NM_198578.3(LRRK2):c.683G>C (p.Cys228Ser) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39241 NM_198578.3(LRRK2):c.7435A>G (p.Asn2479Asp) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39201 NM_198578.3(LRRK2):c.4939T>A (p.Ser1647Thr) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39221 NM_198578.3(LRRK2):c.6241A>G (p.Asn2081Asp) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:39211 NM_198578.3(LRRK2):c.546A>G (p.Lys182=) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000501 evidence used in automatic assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:9276 GCH1, IVS2, A-G, -2 NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred ClinVarVariant:208620 NM_000360.3(TH):c.283delG (p.Ala95Argfs) NCBITaxon:9606 Homo sapiens HP:0002548 Parkinsonism with favorable response to dopaminergic medication ECO:0000304 traceable author statement used in manual assertion http://data.monarchinitiative.org/ttl/clinvar.ttl|http://data.monarchinitiative.org/ttl/hpoa.ttl inferred