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Links from MedGen

Items: 1 to 100 of 294

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:20972192
GRCh38:
Chr1:20645699
PINK1, PINK1-ASN367DAutosomal recessive early-onset Parkinson disease 6Uncertain significancecriteria provided, single submitter
2.
GRCh37:
Chr1:20960426
GRCh38:
Chr1:20633933
PINK1Q129*Autosomal recessive early-onset Parkinson disease 6Likely pathogeniccriteria provided, single submitter
3.
GRCh37:
Chr1:20968595
GRCh38:
Chr1:20642102
PINK1Autosomal recessive early-onset Parkinson disease 6Uncertain significance
(May 16, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr1:20968517
GRCh38:
Chr1:20642024
PINK1Autosomal recessive early-onset Parkinson disease 6Uncertain significance
(May 16, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr1:20972033-20972236
PINK1Autosomal recessive early-onset Parkinson disease 6Pathogenic
(Sep 10, 2021)
criteria provided, single submitter
6.
GRCh37:
Chr1:20974682-20975609
PINK1Autosomal recessive early-onset Parkinson disease 6Likely pathogenic
(Dec 13, 2021)
criteria provided, single submitter
7.
GRCh37:
Chr1:19199339-22987879
Congenital disorder of glycosylation type Ir, Deficiency of pyrroline-5-carboxylate reductase, Autosomal recessive early-onset Parkinson disease 6
Uncertain significance
(Jul 29, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr1:20964631
GRCh38:
Chr1:20638138
PINK1Autosomal recessive early-onset Parkinson disease 6Likely benign
(Jun 21, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr1:20960418
GRCh38:
Chr1:20633925
PINK1Q126PAutosomal recessive early-onset Parkinson disease 6Likely pathogenic
(Mar 25, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr1:20960210-20960211
GRCh38:
Chr1:20633717-20633718
MIR6084, PINK1Autosomal recessive early-onset Parkinson disease 6Uncertain significance
(Aug 17, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr1:20966503
GRCh38:
Chr1:20640010
PINK1Autosomal recessive early-onset Parkinson disease 6Likely benign
(Oct 18, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr1:20975004
GRCh38:
Chr1:20648511
PINK1, PINK1-ASC377FAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Apr 29, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr1:20975470
GRCh38:
Chr1:20648977
PINK1, PINK1-ASAutosomal recessive early-onset Parkinson disease 6Likely benign
(Jul 31, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr1:20972227
GRCh38:
Chr1:20645734
PINK1-AS, PINK1Autosomal recessive early-onset Parkinson disease 6Likely benign
(May 27, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr1:20976948
GRCh38:
Chr1:20650455
PINK1, PINK1-ASA504TAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Apr 11, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr1:20960426
GRCh38:
Chr1:20633933
PINK1Q129EAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Sep 27, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr1:20975592
GRCh38:
Chr1:20649099
PINK1, PINK1-ASAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Aug 7, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr1:20964546
GRCh38:
Chr1:20638053
PINK1A200VAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Sep 27, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr1:20964601
GRCh38:
Chr1:20638108
PINK1Autosomal recessive early-onset Parkinson disease 6Likely benign
(Aug 5, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr1:20964345
GRCh38:
Chr1:20637852
PINK1T133IAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Jul 16, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr1:20964332
GRCh38:
Chr1:20637839
PINK1Autosomal recessive early-onset Parkinson disease 6Uncertain significance
(Jul 16, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr1:20964563
GRCh38:
Chr1:20638070
PINK1E206KAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Oct 14, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr1:20960329
GRCh38:
Chr1:20633836
PINK1C96WAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(May 10, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr1:20972200
GRCh38:
Chr1:20645707
PINK1, PINK1-ASAutosomal recessive early-onset Parkinson disease 6Likely benign
(Jul 31, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr1:20975588
GRCh38:
Chr1:20649095
PINK1, PINK1-ASN451IAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Apr 24, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr1:20975738
GRCh38:
Chr1:20649245
PINK1-AS, PINK1Autosomal recessive early-onset Parkinson disease 6Likely benign
(Jul 17, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr1:20966463
GRCh38:
Chr1:20639970
PINK1E252KAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Apr 15, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr1:20972228
GRCh38:
Chr1:20645735
PINK1, PINK1-ASAutosomal recessive early-onset Parkinson disease 6Likely benign
(Jul 21, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr1:20960214
GRCh38:
Chr1:20633721
MIR6084, PINK1R58KAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Jun 24, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr1:20960355
GRCh38:
Chr1:20633862
PINK1G105VAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Sep 16, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr1:20971119
GRCh38:
Chr1:20644626
PINK1-AS, PINK1P305AAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Feb 10, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr1:20975468
GRCh38:
Chr1:20648975
PINK1, PINK1-ASAutosomal recessive early-onset Parkinson disease 6Likely benign
(Apr 9, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr1:20976964-20976965
GRCh38:
Chr1:20650471-20650472
PINK1-AS, PINK1L511fsAutosomal recessive early-onset Parkinson disease 6Likely pathogenic
(Mar 25, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr1:20964372
GRCh38:
Chr1:20637879
PINK1P142LAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Aug 12, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr1:20972045
GRCh38:
Chr1:20645552
PINK1-AS, PINK1Autosomal recessive early-onset Parkinson disease 6Uncertain significance
(Aug 22, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr1:20966368
GRCh38:
Chr1:20639875
PINK1Autosomal recessive early-onset Parkinson disease 6Likely benign
(Feb 19, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr1:20971043
GRCh38:
Chr1:20644550
PINK1, PINK1-ASAutosomal recessive early-onset Parkinson disease 6Likely benign
(Sep 26, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr1:20964360
GRCh38:
Chr1:20637867
PINK1P138RAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Jun 30, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr1:20966446
GRCh38:
Chr1:20639953
PINK1R246QAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Aug 9, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr1:20975507
GRCh38:
Chr1:20649014
PINK1, PINK1-ASG424DAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Nov 28, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr1:20960405
GRCh38:
Chr1:20633912
PINK1V122LAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Dec 19, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr1:20960244-20960245
GRCh38:
Chr1:20633751-20633752
MIR6084, PINK1R68PAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Aug 10, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr1:20966419
GRCh38:
Chr1:20639926
PINK1M237fsAutosomal recessive early-onset Parkinson disease 6Pathogenic
(May 25, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr1:20960106
GRCh38:
Chr1:20633613
PINK1T22MAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Jan 17, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr1:20976939
GRCh38:
Chr1:20650446
PINK1, PINK1-ASR501*Autosomal recessive early-onset Parkinson disease 6, not providedPathogenic/Likely pathogenic
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr1:20975501
GRCh38:
Chr1:20649008
PINK1, PINK1-ASR422HAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Feb 11, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr1:20975509
GRCh38:
Chr1:20649016
PINK1, PINK1-ASP425SAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Feb 6, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr1:20960443
GRCh38:
Chr1:20633950
PINK1Autosomal recessive early-onset Parkinson disease 6Likely benign
(Aug 6, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr1:20960369
GRCh38:
Chr1:20633876
PINK1L110IAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Aug 22, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr1:20975744
GRCh38:
Chr1:20649251
PINK1, PINK1-ASAutosomal recessive early-onset Parkinson disease 6Likely benign
(May 30, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr1:20964503
GRCh38:
Chr1:20638010
PINK1K186EAutosomal recessive early-onset Parkinson disease 6, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Feb 28, 2022)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr1:20964330
GRCh38:
Chr1:20637837
PINK1Autosomal recessive early-onset Parkinson disease 6Likely benign
(Feb 28, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr1:20964317
GRCh38:
Chr1:20637824
PINK1Autosomal recessive early-onset Parkinson disease 6Likely benign
(Sep 1, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr1:20977038
GRCh38:
Chr1:20650545
PINK1, PINK1-ASQ534*Autosomal recessive early-onset Parkinson disease 6Pathogenic
(Aug 9, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr1:20975634
GRCh38:
Chr1:20649141
PINK1, PINK1-ASAutosomal recessive early-onset Parkinson disease 6Likely benign
(Jul 30, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr1:20960433
GRCh38:
Chr1:20633940
PINK1Autosomal recessive early-onset Parkinson disease 6Uncertain significance
(Apr 13, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr1:20976998
GRCh38:
Chr1:20650505
PINK1, PINK1-ASAutosomal recessive early-onset Parkinson disease 6Likely benign
(Sep 19, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr1:20975050
GRCh38:
Chr1:20648557
PINK1, PINK1-ASE392DAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Aug 15, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr1:20971059
GRCh38:
Chr1:20644566
PINK1-AS, PINK1V285MAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Feb 22, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr1:20974988
GRCh38:
Chr1:20648495
PINK1, PINK1-ASAutosomal recessive early-onset Parkinson disease 6Likely benign
(Aug 25, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr1:20975603
GRCh38:
Chr1:20649110
PINK1, PINK1-ASQ456RAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Oct 24, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr1:20964586
GRCh38:
Chr1:20638093
PINK1Autosomal recessive early-onset Parkinson disease 6Likely benign
(Oct 24, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr1:20960425
GRCh38:
Chr1:20633932
PINK1Autosomal recessive early-onset Parkinson disease 6Likely benign
(Jun 10, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr1:20972192
GRCh38:
Chr1:20645699
PINK1-AS, PINK1N367HAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Feb 27, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr1:20960243
GRCh38:
Chr1:20633750
PINK1, MIR6084R68CAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Jul 31, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr1:20977069-20977070
GRCh38:
Chr1:20650576-20650577
PINK1, PINK1-ASL544PAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Apr 24, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr1:20960170
GRCh38:
Chr1:20633677
PINK1Autosomal recessive early-onset Parkinson disease 6Likely benign
(Feb 12, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr1:20964459
GRCh38:
Chr1:20637966
PINK1Y171CAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Aug 12, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr1:20972231
GRCh38:
Chr1:20645738
PINK1, PINK1-ASAutosomal recessive early-onset Parkinson disease 6Likely benign
(Jun 30, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr1:20960225
GRCh38:
Chr1:20633732
PINK1, MIR6084G62RInborn genetic diseases, Autosomal recessive early-onset Parkinson disease 6Uncertain significance
(Jul 11, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr1:20971070-20971071
GRCh38:
Chr1:20644577-20644578
PINK1-AS, PINK1P289TAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Dec 3, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr1:20976937
GRCh38:
Chr1:20650444
PINK1, PINK1-ASA500GAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Sep 16, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr1:20971104
GRCh38:
Chr1:20644611
PINK1, PINK1-ASP300SAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Feb 2, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr1:20960199
GRCh38:
Chr1:20633706
PINK1, MIR6084G53DAutosomal recessive early-onset Parkinson disease 6Uncertain significance
(Mar 1, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr1:20960180
GRCh38:
Chr1:20633687
MIR6084, PINK1G47RAutosomal recessive early-onset Parkinson disease 6, See cases, Inborn genetic diseases,
not provided
Uncertain significance
(May 16, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr1:20966445
GRCh38:
Chr1:20639952
PINK1Autosomal recessive early-onset Parkinson disease 6Likely benign
(Sep 13, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr1:20977157
GRCh38:
Chr1:20650664
PINK1, PINK1-ASAutosomal recessive early-onset Parkinson disease 6Likely benign
(Dec 8, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr1:20960448
GRCh38:
Chr1:20633955
PINK1Autosomal recessive early-onset Parkinson disease 6Benign/Likely benign
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr1:20972104
GRCh38:
Chr1:20645611
PINK1-AS, PINK1Autosomal recessive early-onset Parkinson disease 6Likely benign
(Jul 30, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr1:20975144
GRCh38:
Chr1:20648651
PINK1-AS, PINK1Autosomal recessive early-onset Parkinson disease 6Likely benign
(Aug 18, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr1:20960218
GRCh38:
Chr1:20633725
PINK1, MIR6084Autosomal recessive early-onset Parkinson disease 6Likely benign
(Dec 3, 2021)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr1:20972040
GRCh38:
Chr1:20645547
PINK1, PINK1-ASAutosomal recessive early-onset Parkinson disease 6Likely benign
(Oct 15, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr1:20964493
GRCh38:
Chr1:20638000
PINK1Autosomal recessive early-onset Parkinson disease 6Likely benign
(Dec 3, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr1:20972033
GRCh38:
Chr1:20645540
PINK1-AS, PINK1Autosomal recessive early-onset Parkinson disease 6Likely benign
(Jun 18, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr1:20974999
GRCh38:
Chr1:20648506
PINK1, PINK1-ASAutosomal recessive early-onset Parkinson disease 6Likely benign
(Jun 13, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr1:20975134
GRCh38:
Chr1:20648641
PINK1, PINK1-ASAutosomal recessive early-onset Parkinson disease 6Likely benign
(Aug 7, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr1:20975741
GRCh38:
Chr1:20649248
PINK1-AS, PINK1Autosomal recessive early-onset Parkinson disease 6Likely benign
(Jul 20, 2022)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr1:20960356
GRCh38:
Chr1:20633863
PINK1Autosomal recessive early-onset Parkinson disease 6Likely benign
(Sep 20, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr1:20960110
GRCh38:
Chr1:20633617
PINK1Autosomal recessive early-onset Parkinson disease 6Likely benign
(Aug 5, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr1:20964630
GRCh38:
Chr1:20638137
PINK1Autosomal recessive early-onset Parkinson disease 6Likely benign
(Oct 17, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr1:20977127
GRCh38:
Chr1:20650634
PINK1, PINK1-ASAutosomal recessive early-onset Parkinson disease 6Likely benign
(Jul 18, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr1:20972140
GRCh38:
Chr1:20645647
PINK1-AS, PINK1Autosomal recessive early-onset Parkinson disease 6Likely benign
(Dec 2, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr1:20972036
GRCh38:
Chr1:20645543
PINK1-AS, PINK1Autosomal recessive early-onset Parkinson disease 6Likely benign
(Feb 9, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr1:20976950
GRCh38:
Chr1:20650457
PINK1, PINK1-ASAutosomal recessive early-onset Parkinson disease 6Likely benign
(May 13, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr1:20972110
GRCh38:
Chr1:20645617
PINK1, PINK1-ASAutosomal recessive early-onset Parkinson disease 6Likely benign
(Apr 30, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr1:20975739
GRCh38:
Chr1:20649246
PINK1, PINK1-ASAutosomal recessive early-onset Parkinson disease 6Likely benign
(Jun 13, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr1:20964574
GRCh38:
Chr1:20638081
PINK1Autosomal recessive early-onset Parkinson disease 6Likely benign
(Sep 25, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr1:20964451
GRCh38:
Chr1:20637958
PINK1Autosomal recessive early-onset Parkinson disease 6Likely benign
(Jul 11, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr1:20964376
GRCh38:
Chr1:20637883
PINK1Autosomal recessive early-onset Parkinson disease 6Likely benign
(Oct 14, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr1:20975655
GRCh38:
Chr1:20649162
PINK1, PINK1-ASAutosomal recessive early-onset Parkinson disease 6Likely benign
(Jul 20, 2022)
criteria provided, single submitter
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