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Links from MedGen

Items: 1 to 100 of 167

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:30199203
GRCh38:
Chr19:29708296
C19orf12F40VNeurodegeneration with brain iron accumulation 4Uncertain significancecriteria provided, single submitter
2.
GRCh37:
Chr19:30199215-30199216
GRCh38:
Chr19:29708308-29708309
C19orf12A37fsNeurodegeneration with brain iron accumulation 4Pathogenic
(Nov 8, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr19:30193801
GRCh38:
Chr19:29702894
C19orf12P18T, P82TNeurodegeneration with brain iron accumulation 4Uncertain significance
(Sep 9, 2023)
criteria provided, single submitter
4.
GRCh37:
Chr19:30193630
GRCh38:
Chr19:29702723
C19orf12Y139H, Y75HNeurodegeneration with brain iron accumulation 4Uncertain significance
(Mar 26, 2021)
criteria provided, single submitter
5.
GRCh37:
Chr19:30193777
GRCh38:
Chr19:29702870
C19orf12N26D, N90DNeurodegeneration with brain iron accumulation 4, Hereditary spastic paraplegia 43Uncertain significance
(Aug 12, 2022)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr19:30193713
GRCh38:
Chr19:29702806
C19orf12V111A, V47ANeurodegeneration with brain iron accumulation 4Uncertain significance
(Apr 4, 2021)
criteria provided, single submitter
7.
GRCh37:
Chr19:30199236
GRCh38:
Chr19:29708329
C19orf12G29RHereditary spastic paraplegia 43Uncertain significance
(Aug 15, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr19:30193862-30193863
GRCh38:
Chr19:29702955-29702956
C19orf12L61fsNeurodegeneration with brain iron accumulation 4Pathogenic
(Feb 14, 2020)
no assertion criteria provided
9.
GRCh37:
Chr19:30193803-30193804
GRCh38:
Chr19:29702896-29702897
C19orf12P17fs, P81fsNeurodegeneration with brain iron accumulation 4Likely pathogeniccriteria provided, single submitter
10.
GRCh37:
Chr19:30199321
GRCh38:
Chr19:29708414
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr19:30191792
GRCh38:
Chr19:29700885
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr19:30191779
GRCh38:
Chr19:29700872
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
13.
GRCh37:
Chr19:30191765
GRCh38:
Chr19:29700858
C19orf12Neurodegeneration with brain iron accumulation 4Likely benign
(Apr 27, 2017)
criteria provided, single submitter
14.
GRCh37:
Chr19:30191749
GRCh38:
Chr19:29700842
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr19:30190835
GRCh38:
Chr19:29699928
C19orf12Neurodegeneration with brain iron accumulation 4Likely benign
(Jan 12, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr19:30190528
GRCh38:
Chr19:29699621
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr19:30199208
GRCh38:
Chr19:29708301
C19orf12M38T, M49TNeurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr19:30193674
GRCh38:
Chr19:29702767
C19orf12M60T, M124T, C106R, M135TNeurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr19:30192508
GRCh38:
Chr19:29701601
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr19:30191722
GRCh38:
Chr19:29700815
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr19:30191679
GRCh38:
Chr19:29700772
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr19:30191675
GRCh38:
Chr19:29700768
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr19:30191561
GRCh38:
Chr19:29700654
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr19:30191502
GRCh38:
Chr19:29700595
C19orf12Neurodegeneration with brain iron accumulation 4Benign
(Jan 13, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr19:30191412
GRCh38:
Chr19:29700505
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr19:30190347
GRCh38:
Chr19:29699440
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr19:30190319
GRCh38:
Chr19:29699412
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr19:30190305
GRCh38:
Chr19:29699398
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr19:30193614
GRCh38:
Chr19:29702707
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr19:30193338
GRCh38:
Chr19:29702431
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr19:30192416
GRCh38:
Chr19:29701509
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr19:30192393
GRCh38:
Chr19:29701486
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr19:30192258
GRCh38:
Chr19:29701351
C19orf12Neurodegeneration with brain iron accumulation 4Benign
(Jan 13, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr19:30192257
GRCh38:
Chr19:29701350
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr19:30192206
GRCh38:
Chr19:29701299
C19orf12Neurodegeneration with brain iron accumulation 4Likely benign
(Jan 12, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr19:30191411
GRCh38:
Chr19:29700504
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr19:30191291
GRCh38:
Chr19:29700384
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr19:30191235
GRCh38:
Chr19:29700328
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr19:30190267
GRCh38:
Chr19:29699360
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr19:30190262
GRCh38:
Chr19:29699355
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
41.
GRCh37:
Chr19:30190219
GRCh38:
Chr19:29699312
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr19:30193065
GRCh38:
Chr19:29702158
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr19:30193040
GRCh38:
Chr19:29702133
C19orf12Neurodegeneration with brain iron accumulation 4Benign
(Jan 12, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr19:30191971
GRCh38:
Chr19:29701064
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Mar 30, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr19:30191953
GRCh38:
Chr19:29701046
C19orf12Neurodegeneration with brain iron accumulation 4Benign
(Jan 13, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr19:30190948
GRCh38:
Chr19:29700041
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr19:30190927
GRCh38:
Chr19:29700020
C19orf12Neurodegeneration with brain iron accumulation 4Likely benign
(Jan 12, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr19:30190887
GRCh38:
Chr19:29699980
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Mar 23, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr19:30190841
GRCh38:
Chr19:29699934
C19orf12Neurodegeneration with brain iron accumulation 4Benign
(Apr 27, 2017)
criteria provided, single submitter
50.
GRCh37:
Chr19:30190101
GRCh38:
Chr19:29699194
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr19:30189922
GRCh38:
Chr19:29699015
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr19:30193804
GRCh38:
Chr19:29702897
C19orf12P17T, P92T, P81TNeurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 31, 2020)
criteria provided, single submitter
53.
GRCh37:
Chr19:30193841-30193851
GRCh38:
Chr19:29702934-29702944
C19orf12M1fs, M65fsNeurodegeneration with brain iron accumulation 4Pathogenic
(Jul 19, 2019)
no assertion criteria provided
54.
GRCh37:
Chr19:30193812-30193813
GRCh38:
Chr19:29702905-29702906
C19orf12M89fs, M14fs, M78fsNeurodegeneration with brain iron accumulation 4Pathogenic
(Jul 19, 2019)
no assertion criteria provided
55.
GRCh37:
Chr19:30193673-30193674
GRCh38:
Chr19:29702766-29702767
C19orf12C106fs, M124fs, M60fsAbnormal central motor function, not provided, Neurodegeneration with brain iron accumulation 4
Pathogenic/Likely pathogenic
(Jun 17, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr19:30199275
GRCh38:
Chr19:29708368
C19orf12S16P, S27PNeurodegeneration with brain iron accumulation 4Uncertain significance
(Dec 14, 2018)
no assertion criteria provided
57.
GRCh37:
Chr19:30199330
GRCh38:
Chr19:29708423
C19orf12K8NNeurodegeneration with brain iron accumulation 4Pathogenic
(Dec 6, 2018)
no assertion criteria provided
58.
GRCh37:
Chr19:30193884
GRCh38:
Chr19:29702977
C19orf12G54E, G65ENeurodegeneration with brain iron accumulation, Hereditary spastic paraplegia 43, not provided
Pathogenic/Likely pathogenic
(Mar 20, 2023)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr19:30193868
GRCh38:
Chr19:29702961
C19orf12Hereditary spastic paraplegia 43, not specified, not provided,
Neurodegeneration with brain iron accumulation 4
Conflicting interpretations of pathogenicity
(May 1, 2022)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr19:30193886
GRCh38:
Chr19:29702979
C19orf12Neurodegeneration with brain iron accumulation 4, Hereditary spastic paraplegia 43Conflicting interpretations of pathogenicity
(Sep 27, 2022)
criteria provided, conflicting interpretations
61.
GRCh37:
Chr19:30193742
GRCh38:
Chr19:29702835
C19orf12W101*, W112*, W37*Neurodegeneration with brain iron accumulation 4Likely pathogenic
(May 16, 2017)
criteria provided, single submitter
62.
GRCh37:
Chr19:30193840
GRCh38:
Chr19:29702933
C19orf12Q69*, Q80*, Q5*Neurodegeneration with brain iron accumulation 4, not providedPathogenic/Likely pathogenic
(Apr 28, 2020)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr19:30193884
GRCh38:
Chr19:29702977
C19orf12G54V, G65Vnot provided, Global developmental delay, Intellectual disability,
Neurodegeneration with brain iron accumulation 4
Likely pathogenic
(Mar 31, 2020)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr19:30205854
GRCh38:
Chr19:29714947
C19orf12, LOC130064129not specified, Neurodegeneration with brain iron accumulation 4Conflicting interpretations of pathogenicity
(Jan 15, 2018)
criteria provided, conflicting interpretations
65.
GRCh37:
Chr19:30193632
GRCh38:
Chr19:29702725
C19orf12Q138R, Q149R, Q74Rnot provided, Neurodegeneration with brain iron accumulation 4, Hereditary spastic paraplegia 43,
Hereditary spastic paraplegia
Likely benign
(Sep 1, 2023)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr19:30189786
GRCh38:
Chr19:29698879
C19orf12Neurodegeneration with brain iron accumulation 4Likely benign
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr19:30205912
GRCh38:
Chr19:29715005
C19orf12, LOC130064129Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr19:30205908
GRCh38:
Chr19:29715001
C19orf12, LOC130064129Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr19:30205901
GRCh38:
Chr19:29714994
C19orf12, LOC130064129Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr19:30205883
GRCh38:
Chr19:29714976
LOC130064129, C19orf12Neurodegeneration with brain iron accumulation 4, not specifiedLikely benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr19:30205869
GRCh38:
Chr19:29714962
C19orf12, LOC130064129Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr19:30205851
GRCh38:
Chr19:29714944
C19orf12, LOC130064129not specified, Neurodegeneration with brain iron accumulation 4Benign/Likely benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr19:30199342
GRCh38:
Chr19:29708435
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr19:30199253
GRCh38:
Chr19:29708346
C19orf12A34V, A23VNeurodegeneration with brain iron accumulation 4, not provided, Hereditary spastic paraplegia 43
Conflicting interpretations of pathogenicity
(Oct 8, 2022)
criteria provided, conflicting interpretations
75.
GRCh37:
Chr19:30199241
GRCh38:
Chr19:29708334
C19orf12H27L, H38LNeurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr19:30193599
GRCh38:
Chr19:29702692
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr19:30193572
GRCh38:
Chr19:29702665
C19orf12Neurodegeneration with brain iron accumulation 4, not providedBenign/Likely benign
(Jun 28, 2018)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr19:30193535
GRCh38:
Chr19:29702628
C19orf12not provided, Neurodegeneration with brain iron accumulation 4Benign
(Jun 23, 2018)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr19:30193483
GRCh38:
Chr19:29702576
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr19:30193482
GRCh38:
Chr19:29702575
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr19:30193311
GRCh38:
Chr19:29702404
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr19:30193182
GRCh38:
Chr19:29702275
C19orf12Neurodegeneration with brain iron accumulation 4Benign
(Jan 13, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr19:30193182
GRCh38:
Chr19:29702275
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr19:30193153
GRCh38:
Chr19:29702246
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr19:30193148
GRCh38:
Chr19:29702241
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr19:30193119
GRCh38:
Chr19:29702212
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr19:30193078
GRCh38:
Chr19:29702171
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr19:30192901
GRCh38:
Chr19:29701994
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr19:30192828
GRCh38:
Chr19:29701921
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr19:30192805
GRCh38:
Chr19:29701898
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr19:30192738
GRCh38:
Chr19:29701831
C19orf12Neurodegeneration with brain iron accumulation 4Benign
(Jan 13, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr19:30192675
GRCh38:
Chr19:29701768
C19orf12Neurodegeneration with brain iron accumulation 4Benign
(Jan 12, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr19:30192599
GRCh38:
Chr19:29701692
C19orf12Neurodegeneration with brain iron accumulation 4Benign
(Jan 12, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr19:30192599
GRCh38:
Chr19:29701692
C19orf12Neurodegeneration with brain iron accumulation 4Likely benign
(Jun 14, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr19:30192597-30192598
GRCh38:
Chr19:29701690-29701691
C19orf12Neurodegeneration with brain iron accumulation 4Likely benign
(Jun 14, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr19:30192582
GRCh38:
Chr19:29701675
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr19:30192505
GRCh38:
Chr19:29701598
C19orf12Neurodegeneration with brain iron accumulation 4Benign
(Jan 12, 2018)
criteria provided, single submitter
98.
GRCh37:
Chr19:30192475
GRCh38:
Chr19:29701568
C19orf12Neurodegeneration with brain iron accumulation 4Benign
(Jan 13, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr19:30192474
GRCh38:
Chr19:29701567
C19orf12Neurodegeneration with brain iron accumulation 4Benign
(Jan 13, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr19:30192461
GRCh38:
Chr19:29701554
C19orf12Neurodegeneration with brain iron accumulation 4Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
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