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Links from MedGen

Items: 1 to 100 of 708

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:40715903
GRCh38:
Chr12:40322101
LRRK2A1746DAutosomal dominant Parkinson disease 8Uncertain significancecriteria provided, single submitter
2.
GRCh37:
Chr12:40707850
GRCh38:
Chr12:40314048
LRRK2R1538LAutosomal dominant Parkinson disease 8Uncertain significance
(Jun 21, 2021)
criteria provided, single submitter
3.
GRCh37:
Chr12:40702497
GRCh38:
Chr12:40308695
LRRK2Autosomal dominant Parkinson disease 8Uncertain significance
(Apr 27, 2023)
criteria provided, single submitter
4.
GRCh37:
Chr12:40692264
GRCh38:
Chr12:40298462
LRRK2V1106LAutosomal dominant Parkinson disease 8Uncertain significance
(Aug 17, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr12:40651134
GRCh38:
Chr12:40257332
LRRK2V458AAutosomal dominant Parkinson disease 8Uncertain significance
(Oct 25, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr12:40696683
GRCh38:
Chr12:40302881
LRRK2H1197YAutosomal dominant Parkinson disease 8, Inborn genetic diseasesUncertain significance
(Jan 27, 2023)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr12:40734262
GRCh38:
Chr12:40340460
LRRK2Autosomal dominant Parkinson disease 8Uncertain significance
(Dec 13, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr12:40671821
GRCh38:
Chr12:40278019
LRRK2Autosomal dominant Parkinson disease 8Uncertain significance
(Oct 26, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr12:40645153
GRCh38:
Chr12:40251351
LRRK2H360YAutosomal dominant Parkinson disease 8Uncertain significance
(Feb 19, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr12:40637337
GRCh38:
Chr12:40243535
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(Jul 3, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr12:40687431
GRCh38:
Chr12:40293629
LRRK2C925YAutosomal dominant Parkinson disease 8Likely benign
(Aug 9, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr12:40715906
GRCh38:
Chr12:40322104
LRRK2Y1747CInborn genetic diseases, Autosomal dominant Parkinson disease 8Uncertain significance
(Aug 4, 2023)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr12:40634429
GRCh38:
Chr12:40240627
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(Nov 1, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr12:40668810
GRCh38:
Chr12:40275008
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(Aug 15, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr12:40709010
GRCh38:
Chr12:40315208
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(Sep 19, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr12:40677808
GRCh38:
Chr12:40284006
LRRK2Autosomal dominant Parkinson disease 8, Inborn genetic diseasesLikely benign
(Aug 29, 2023)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr12:40618955
GRCh38:
Chr12:40225153
LRRK2G8RAutosomal dominant Parkinson disease 8Uncertain significance
(Mar 2, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr12:40717067
GRCh38:
Chr12:40323265
LRRK2N1872SAutosomal dominant Parkinson disease 8Uncertain significance
(Aug 16, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr12:40651050
GRCh38:
Chr12:40257248
LRRK2V430AAutosomal dominant Parkinson disease 8Uncertain significance
(Aug 13, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr12:40702911
GRCh38:
Chr12:40309109
LRRK2R1398LAutosomal dominant Parkinson disease 8Uncertain significance
(Dec 29, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr12:40709052
GRCh38:
Chr12:40315250
LRRK2S1593GAutosomal dominant Parkinson disease 8Uncertain significance
(Jun 22, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr12:40745422
GRCh38:
Chr12:40351620
LRRK2M2155LAutosomal dominant Parkinson disease 8Uncertain significance
(Apr 1, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr12:40745516
GRCh38:
Chr12:40351714
LRRK2T2186IAutosomal dominant Parkinson disease 8Uncertain significance
(Dec 17, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr12:40757188
GRCh38:
Chr12:40363386
LRRK2Autosomal dominant Parkinson disease 8Benign
(Jun 20, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr12:40728893
GRCh38:
Chr12:40335091
LRRK2Q1961RAutosomal dominant Parkinson disease 8Uncertain significance
(Apr 18, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr12:40681171
GRCh38:
Chr12:40287369
LRRK2A840VAutosomal dominant Parkinson disease 8Uncertain significance
(Dec 6, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr12:40748295
GRCh38:
Chr12:40354493
LRRK2Autosomal dominant Parkinson disease 8Uncertain significance
(Jul 20, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr12:40651037
GRCh38:
Chr12:40257235
LRRK2Autosomal dominant Parkinson disease 8Benign
(Mar 1, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr12:40651047
GRCh38:
Chr12:40257245
LRRK2Autosomal dominant Parkinson disease 8Uncertain significance
(May 4, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr12:40681235
GRCh38:
Chr12:40287433
LRRK2Autosomal dominant Parkinson disease 8, Inborn genetic diseasesLikely benign
(Mar 29, 2023)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr12:40753137
GRCh38:
Chr12:40359335
LRRK2T2307PAutosomal dominant Parkinson disease 8Uncertain significance
(May 22, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr12:40709009
GRCh38:
Chr12:40315207
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(Sep 20, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr12:40631897
GRCh38:
Chr12:40238095
LRRK2F188YAutosomal dominant Parkinson disease 8Uncertain significance
(Mar 12, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr12:40734255
GRCh38:
Chr12:40340453
LRRK2Autosomal dominant Parkinson disease 8Uncertain significance
(Mar 2, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr12:40697860
GRCh38:
Chr12:40304058
LRRK2I1234TInborn genetic diseases, Autosomal dominant Parkinson disease 8Uncertain significance
(Nov 10, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr12:40728759
GRCh38:
Chr12:40334957
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(Feb 25, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr12:40734175
GRCh38:
Chr12:40340373
LRRK2A2010TAutosomal dominant Parkinson disease 8Uncertain significance
(Jan 5, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr12:40699715
GRCh38:
Chr12:40305913
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(May 8, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr12:40704298
GRCh38:
Chr12:40310496
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(Sep 1, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr12:40728831
GRCh38:
Chr12:40335029
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(May 5, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr12:40716184
GRCh38:
Chr12:40322382
LRRK2G1794VAutosomal dominant Parkinson disease 8Uncertain significance
(May 12, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr12:40619027
GRCh38:
Chr12:40225225
LRRK2I32LAutosomal dominant Parkinson disease 8Uncertain significance
(May 3, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr12:40697896
GRCh38:
Chr12:40304094
LRRK2R1246KAutosomal dominant Parkinson disease 8Uncertain significance
(Apr 22, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr12:40626205
GRCh38:
Chr12:40232403
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(Apr 18, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr12:40709111
GRCh38:
Chr12:40315309
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(Apr 18, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr12:40699752
GRCh38:
Chr12:40305950
LRRK2A1315SAutosomal dominant Parkinson disease 8Uncertain significance
(Apr 11, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr12:40677719
GRCh38:
Chr12:40283917
LRRK2L762VAutosomal dominant Parkinson disease 8Uncertain significance
(Mar 25, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr12:40758636
GRCh38:
Chr12:40364834
LRRK2Autosomal dominant Parkinson disease 8Uncertain significance
(Mar 21, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr12:40722195
GRCh38:
Chr12:40328393
LRRK2A1897GAutosomal dominant Parkinson disease 8Uncertain significance
(Mar 21, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr12:40668699
GRCh38:
Chr12:40274897
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(Mar 11, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr12:40692086
GRCh38:
Chr12:40298284
LRRK2K1046NAutosomal dominant Parkinson disease 8Uncertain significance
(Mar 6, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr12:40758872
GRCh38:
Chr12:40365070
LRRK2Autosomal dominant Parkinson disease 8Uncertain significance
(Aug 13, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr12:40657654
GRCh38:
Chr12:40263852
LRRK2Q536LAutosomal dominant Parkinson disease 8Uncertain significance
(Feb 19, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr12:40699609
GRCh38:
Chr12:40305807
LRRK2L1267PInborn genetic diseases, Autosomal dominant Parkinson disease 8Uncertain significance
(Feb 24, 2023)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr12:40699777
GRCh38:
Chr12:40305975
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(Jun 3, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr12:40740657
GRCh38:
Chr12:40346855
LRRK2G2071DAutosomal dominant Parkinson disease 8Uncertain significance
(Jun 22, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr12:40693077
GRCh38:
Chr12:40299275
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(Jan 26, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr12:40619418
GRCh38:
Chr12:40225616
LRRK2Y71*Autosomal dominant Parkinson disease 8Uncertain significance
(Jan 4, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr12:40618950
GRCh38:
Chr12:40225148
LRRK2C6SAutosomal dominant Parkinson disease 8Uncertain significance
(Jan 4, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr12:40681361
GRCh38:
Chr12:40287559
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(May 29, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr12:40709107
GRCh38:
Chr12:40315305
LRRK2Autosomal dominant Parkinson disease 8Uncertain significance
(Apr 11, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr12:40696662
GRCh38:
Chr12:40302860
LRRK2E1190KInborn genetic diseases, Autosomal dominant Parkinson disease 8Uncertain significance
(Dec 18, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr12:40651067
GRCh38:
Chr12:40257265
LRRK2Autosomal dominant Parkinson disease 8Uncertain significance
(Sep 22, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr12:40637493
GRCh38:
Chr12:40243691
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(Dec 30, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr12:40692934
GRCh38:
Chr12:40299132
LRRK2S1124FAutosomal dominant Parkinson disease 8Uncertain significance
(Sep 22, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr12:40699569-40699570
GRCh38:
Chr12:40305767-40305768
LRRK2Autosomal dominant Parkinson disease 8Benign
(Jan 5, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr12:40645300
GRCh38:
Chr12:40251498
LRRK2M379VAutosomal dominant Parkinson disease 8Uncertain significance
(Jun 8, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr12:40651100
GRCh38:
Chr12:40257298
LRRK2E447KAutosomal dominant Parkinson disease 8Uncertain significance
(Jun 22, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr12:40692192
GRCh38:
Chr12:40298390
LRRK2C1082RAutosomal dominant Parkinson disease 8Uncertain significance
(Aug 7, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr12:40653366
GRCh38:
Chr12:40259564
LRRK2Q501HInborn genetic diseases, Autosomal dominant Parkinson disease 8Uncertain significance
(Dec 5, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr12:40689366
GRCh38:
Chr12:40295564
LRRK2I1006VAutosomal dominant Parkinson disease 8Uncertain significance
(Jul 29, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr12:40757194
GRCh38:
Chr12:40363392
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(Mar 10, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr12:40716117
GRCh38:
Chr12:40322315
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(Mar 14, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr12:40697845
GRCh38:
Chr12:40304043
LRRK2H1229RInborn genetic diseases, Autosomal dominant Parkinson disease 8Uncertain significance
(Jun 30, 2023)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr12:40653356
GRCh38:
Chr12:40259554
LRRK2L498SAutosomal dominant Parkinson disease 8Uncertain significance
(Jun 12, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr12:40734270
GRCh38:
Chr12:40340468
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(Dec 14, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr12:40702310
GRCh38:
Chr12:40308508
LRRK2R1334QAutosomal dominant Parkinson disease 8Uncertain significance
(Apr 25, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr12:40645070-40645071
GRCh38:
Chr12:40251268-40251269
LRRK2Autosomal dominant Parkinson disease 8Uncertain significance
(Dec 10, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr12:40629468
GRCh38:
Chr12:40235666
LRRK2N130HAutosomal dominant Parkinson disease 8Uncertain significance
(Dec 10, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr12:40645179
GRCh38:
Chr12:40251377
LRRK2Autosomal dominant Parkinson disease 8Uncertain significance
(Dec 9, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr12:40645346
GRCh38:
Chr12:40251544
LRRK2H394LAutosomal dominant Parkinson disease 8Uncertain significance
(Jun 21, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr12:40671822
GRCh38:
Chr12:40278020
LRRK2Autosomal dominant Parkinson disease 8Uncertain significance
(Jul 22, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr12:40745321
GRCh38:
Chr12:40351519
LRRK2Autosomal dominant Parkinson disease 8Benign
(Jan 13, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr12:40699581
GRCh38:
Chr12:40305779
LRRK2Autosomal dominant Parkinson disease 8Uncertain significance
(Jul 13, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr12:40697736
GRCh38:
Chr12:40303934
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(Oct 14, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr12:40692216
GRCh38:
Chr12:40298414
LRRK2L1090MAutosomal dominant Parkinson disease 8Uncertain significance
(Jun 28, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr12:40699745
GRCh38:
Chr12:40305943
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(Jun 26, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr12:40677944
GRCh38:
Chr12:40284142
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(Dec 18, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr12:40668365
GRCh38:
Chr12:40274563
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(Sep 11, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr12:40699701
GRCh38:
Chr12:40305899
LRRK2P1298AAutosomal dominant Parkinson disease 8Uncertain significance
(Jun 22, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr12:40734113
GRCh38:
Chr12:40340311
LRRK2M1989RAutosomal dominant Parkinson disease 8Uncertain significance
(Jun 13, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr12:40631772
GRCh38:
Chr12:40237970
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(May 23, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr12:40671988-40671989
GRCh38:
Chr12:40278186-40278187
LRRK2Autosomal dominant Parkinson disease 8Uncertain significance
(Mar 18, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr12:40646835
GRCh38:
Chr12:40253033
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(Aug 15, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr12:40702366
GRCh38:
Chr12:40308564
LRRK2Q1353KAutosomal dominant Parkinson disease 8Uncertain significance
(Aug 30, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr12:40697945
GRCh38:
Chr12:40304143
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(Apr 30, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr12:40709077
GRCh38:
Chr12:40315275
LRRK2K1601RAutosomal dominant Parkinson disease 8Uncertain significance
(Jun 10, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr12:40619104
GRCh38:
Chr12:40225302
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(Feb 12, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr12:40728758
GRCh38:
Chr12:40334956
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(Sep 29, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr12:40681229
GRCh38:
Chr12:40287427
LRRK2Autosomal dominant Parkinson disease 8Likely benign
(Aug 5, 2022)
criteria provided, single submitter
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