Mercurial > repos > nathandunn > monarchinitiative
comparison test-data/variants-for-phenotype.tsv @ 0:850bb90bd667 draft
planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
| author | nathandunn |
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| date | Sun, 26 Jun 2016 16:00:28 -0400 |
| parents | |
| children | 61d8060bf2ed |
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| -1:000000000000 | 0:850bb90bd667 |
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| 1 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 | |
| 2 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 | |
| 3 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 | |
| 4 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 | |
| 5 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 | |
| 6 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 | |
| 7 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 | |
| 8 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 | |
| 9 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 | |
| 10 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 | |
| 11 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 | |
| 12 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 | |
| 13 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 | |
| 14 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 | |
| 15 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 | |
| 16 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 | |
| 17 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 | |
| 18 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 | |
| 19 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 | |
| 20 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 | |
| 21 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 | |
| 22 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 | |
| 23 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 | |
| 24 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 | |
| 25 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 | |
| 26 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 | |
| 27 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 | |
| 28 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 | |
| 29 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 | |
| 30 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 | |
| 31 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 | |
| 32 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 | |
| 33 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 | |
| 34 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 | |
| 35 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 | |
| 36 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 | |
| 37 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 | |
| 38 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 | |
| 39 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 | |
| 40 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 | |
| 41 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 | |
| 42 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 | |
| 43 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 | |
| 44 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 | |
| 45 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 | |
| 46 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 | |
| 47 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 | |
| 48 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 | |
| 49 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 | |
| 50 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 | |
| 51 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 | |
| 52 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 | |
| 53 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 | |
| 54 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 | |
| 55 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 | |
| 56 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 | |
| 57 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 | |
| 58 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 | |
| 59 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 | |
| 60 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 | |
| 61 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 | |
| 62 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 | |
| 63 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 | |
| 64 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 | |
| 65 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 | |
| 66 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 | |
| 67 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 | |
| 68 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 | |
| 69 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 | |
| 70 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 | |
| 71 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 | |
| 72 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 | |
| 73 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 | |
| 74 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 | |
| 75 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 | |
| 76 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 | |
| 77 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 | |
| 78 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 | |
| 79 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 | |
| 80 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 | |
| 81 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 | |
| 82 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 | |
| 83 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 | |
| 84 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 | |
| 85 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 | |
| 86 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 | |
| 87 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 | |
| 88 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 | |
| 89 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 | |
| 90 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 | |
| 91 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 | |
| 92 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 | |
| 93 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 | |
| 94 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 | |
| 95 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 | |
| 96 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 | |
| 97 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 | |
| 98 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 | |
| 99 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 | |
| 100 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 | |
| 101 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 | |
| 102 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 | |
| 103 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 | |
| 104 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 | |
| 105 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 | |
| 106 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 | |
| 107 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 | |
| 108 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 | |
| 109 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 | |
| 110 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 | |
| 111 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 | |
| 112 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 | |
| 113 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 | |
| 114 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 | |
| 115 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 | |
| 116 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 | |
| 117 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 | |
| 118 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 | |
| 119 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 | |
| 120 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 | |
| 121 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 | |
| 122 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 | |
| 123 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 | |
| 124 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 | |
| 125 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 | |
| 126 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 | |
| 127 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 | |
| 128 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 | |
| 129 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 | |
| 130 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 | |
| 131 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 | |
| 132 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 | |
| 133 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 | |
| 134 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 | |
| 135 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 | |
| 136 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 | |
| 137 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 | |
| 138 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 | |
| 139 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 | |
| 140 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 | |
| 141 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 | |
| 142 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 | |
| 143 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 | |
| 144 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 | |
| 145 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 | |
| 146 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 | |
| 147 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 | |
| 148 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 | |
| 149 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 | |
| 150 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 | |
| 151 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 | |
| 152 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 | |
| 153 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 | |
| 154 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 | |
| 155 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 | |
| 156 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 | |
| 157 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 | |
| 158 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 | |
| 159 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 | |
| 160 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 | |
| 161 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 | |
| 162 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 | |
| 163 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 | |
| 164 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 | |
| 165 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 | |
| 166 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 | |
| 167 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 | |
| 168 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 | |
| 169 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 | |
| 170 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 | |
| 171 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 | |
| 172 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 | |
| 173 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 | |
| 174 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 | |
| 175 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 | |
| 176 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 | |
| 177 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 | |
| 178 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 | |
| 179 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 | |
| 180 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 | |
| 181 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 | |
| 182 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 | |
| 183 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 | |
| 184 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 |