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Links from MedGen

Items: 1 to 100 of 102

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr7:30643171
GRCh38:
Chr7:30603555
GARS1E186Q, E240QCharcot-Marie-Tooth disease type 2DUncertain significance
(Jan 6, 2016)		no assertion criteria provided
2.
GRCh37:
Chr7:30668263
GRCh38:
Chr7:30628647
GARS1R542Q, R596QCharcot-Marie-Tooth disease type 2DUncertain significance
(Jan 6, 2016)		no assertion criteria provided
3.
GRCh37:
Chr7:30661041
GRCh38:
Chr7:30621425
GARS1S411fs, S465fsCharcot-Marie-Tooth disease type 2DUncertain significance
(May 30, 2019)		no assertion criteria provided
4.
GRCh37:
Chr7:30634692
GRCh38:
Chr7:30595076
GARS1R52QCharcot-Marie-Tooth disease type 2DUncertain significance
(Nov 30, 2020)		criteria provided, single submitter
5.
GRCh37:
Chr7:30651837
GRCh38:
Chr7:30612221
GARS1P282H, P336HCharcot-Marie-Tooth disease type 2DPathogenic
(Feb 21, 2022)		no assertion criteria provided
6.
GRCh37:
Chr7:30656831
GRCh38:
Chr7:30617215
GARS1H378Q, H432QCharcot-Marie-Tooth disease type 2DUncertain significanceno assertion criteria provided
7.
GRCh37:
Chr7:30642678
GRCh38:
Chr7:30603062
GARS1D146Y, D200YCharcot-Marie-Tooth disease type 2Dnot providedno assertion provided
8.
GRCh37:
Chr7:30649259
GRCh38:
Chr7:30609643
GARS1S265Y, S211YCharcot-Marie-Tooth disease type 2DPathogenic
(Nov 16, 2020)		no assertion criteria provided
9.
GRCh37:
Chr7:30673621
GRCh38:
Chr7:30634005
GARS1Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
10.
GRCh37:
Chr7:30655677
GRCh38:
Chr7:30616061
GARS1Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
11.
GRCh37:
Chr7:30655668
GRCh38:
Chr7:30616052
GARS1Distal spinal muscular atrophy, Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
12.
GRCh37:
Chr7:30634469
GRCh38:
Chr7:30594853
GARS1Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
13.
GRCh37:
Chr7:30668246
GRCh38:
Chr7:30628630
GARS1Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
14.
GRCh37:
Chr7:30655623
GRCh38:
Chr7:30616007
GARS1Q381H, Q327HDistal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
15.
GRCh37:
Chr7:30634453
GRCh38:
Chr7:30594837
GARS1Distal spinal muscular atrophy, not provided, Charcot-Marie-Tooth disease type 2D,
Neuronopathy, distal hereditary motor, type 5A		Conflicting interpretations of pathogenicity
(Aug 14, 2018)		criteria provided, conflicting interpretations
16.
GRCh37:
Chr7:30634372
GRCh38:
Chr7:30594756
GARS1Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
17.
GRCh37:
Chr7:30634258
GRCh38:
Chr7:30594642
GARS1Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A
Benign
(Jan 13, 2018)		criteria provided, single submitter
18.
GRCh37:
Chr7:30634358
GRCh38:
Chr7:30594742
GARS1Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
19.
GRCh37:
Chr7:30656788
GRCh38:
Chr7:30617172
GARS1T364M, T418MDistal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease type 2,
Neuronopathy, distal hereditary motor, type 5A		Conflicting interpretations of pathogenicity
(Dec 21, 2021)		criteria provided, conflicting interpretations
20.
GRCh37:
Chr7:30634474
GRCh38:
Chr7:30594858
GARS1Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
21.
GRCh37:
Chr7:30634343
GRCh38:
Chr7:30594727
GARS1Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
22.
GRCh37:
Chr7:30665930
GRCh38:
Chr7:30626314
GARS1L511Q, L565QDistal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D,
Neuronopathy, distal hereditary motor, type 5A, Inborn genetic diseases		Conflicting interpretations of pathogenicity
(Sep 19, 2022)		criteria provided, conflicting interpretations
23.
GRCh37:
Chr7:30634571
GRCh38:
Chr7:30594955
GARS1A12TCharcot-Marie-Tooth disease type 2DUncertain significance
(Sep 12, 2019)		criteria provided, single submitter
24.
GRCh37:
Chr7:30642727
GRCh38:
Chr7:30603111
GARS1H162R, H216RNeuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2DPathogenic/Likely pathogenic
(May 4, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr7:30642696
GRCh38:
Chr7:30603080
GARS1V152I, V206IDistal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D,
Neuronopathy, distal hereditary motor, type 5A		Uncertain significance
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr7:30649280
GRCh38:
Chr7:30609664
GARS1L272Q, L218QCharcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2DUncertain significance
(Jan 6, 2016)		no assertion criteria provided
27.
GRCh37:
Chr7:30671914
GRCh38:
Chr7:30632298
GARS1G652A, G598AAutosomal dominant distal hereditary motor neuropathy, Spinal muscular atrophy, infantile, James type, Charcot-Marie-Tooth disease type 2D
Conflicting interpretations of pathogenicity
(Jan 6, 2016)		no assertion criteria provided
28.
GRCh37:
Chr7:30642711
GRCh38:
Chr7:30603095
GARS1C211R, C157RCharcot-Marie-Tooth disease type 2Likely pathogenic
(Aug 31, 2021)		criteria provided, single submitter
29.
GRCh37:
Chr7:30651862
GRCh38:
Chr7:30612246
GARS1Inborn genetic diseases, Charcot-Marie-Tooth disease type 2Conflicting interpretations of pathogenicity
(May 1, 2022)		criteria provided, conflicting interpretations
30.
GRCh37:
Chr7:30668286
GRCh38:
Chr7:30628670
GARS1Charcot-Marie-Tooth disease type 2Uncertain significance
(Aug 27, 2021)		criteria provided, single submitter
31.
GRCh37:
Chr7:30640702
GRCh38:
Chr7:30601086
GARS1P152L, P98LCharcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2DUncertain significance
(Jan 6, 2016)		no assertion criteria provided
32.
GRCh37:
Chr7:30639570
GRCh38:
Chr7:30599954
GARS1A111V, A57VCharcot-Marie-Tooth disease type 2Uncertain significance
(May 27, 2022)		criteria provided, single submitter
33.
GRCh37:
Chr7:30673415
GRCh38:
Chr7:30633799
GARS1E720A, E666AInborn genetic diseases, Charcot-Marie-Tooth disease type 2, not provided,
Charcot-Marie-Tooth disease type 2D		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
34.
GRCh37:
Chr7:30651831
GRCh38:
Chr7:30612215
GARS1I334N, I280NCharcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease type 2Pathogenic/Likely pathogenic
(Jun 20, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr7:30643153
GRCh38:
Chr7:30603537
GARS1E234K, E180KDistal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A,
Charcot-Marie-Tooth disease type 2		Benign/Likely benign
(Aug 19, 2021)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr7:30651830
GRCh38:
Chr7:30612214
GARS1I334F, I280Fnot provided, Charcot-Marie-Tooth disease type 2Pathogenic
(May 23, 2023)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr7:30655651
GRCh38:
Chr7:30616035
GARS1R391C, R337Cnot provided, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
Conflicting interpretations of pathogenicity
(Jun 4, 2022)		criteria provided, conflicting interpretations
38.
GRCh37:
Chr7:30634493
GRCh38:
Chr7:30594877
GARS1Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5Anot providedno assertion provided
39.
GRCh37:
Chr7:30640809
GRCh38:
Chr7:30601193
GARS1V188I, V134ICharcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy,
not provided, Neuronopathy, distal hereditary motor, type 5A		Conflicting interpretations of pathogenicity
(Jul 22, 2022)		criteria provided, conflicting interpretations
40.
GRCh37:
Chr7:30638442
GRCh38:
Chr7:30598826
GARS1K85E, K31EInborn genetic diseases, Charcot-Marie-Tooth disease type 2, not provided,
Distal spinal muscular atrophy, not specified, Charcot-Marie-Tooth disease type 2D,
Neuronopathy, distal hereditary motor, type 5A		Conflicting interpretations of pathogenicity
(Oct 28, 2022)		criteria provided, conflicting interpretations
41.
GRCh37:
Chr7:30661064
GRCh38:
Chr7:30621448
GARS1H472R, H418RInborn genetic diseases, Charcot-Marie-Tooth disease type 2Pathogenic
(Aug 30, 2021)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr7:30638451
GRCh38:
Chr7:30598835
GARS1Q88E, Q34ENeuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D, not provided,
Inborn genetic diseases, Charcot-Marie-Tooth disease type 2		Conflicting interpretations of pathogenicity
(Apr 15, 2022)		criteria provided, conflicting interpretations
43.
GRCh37:
Chr7:30655666
GRCh38:
Chr7:30616050
GARS1V396I, V342INeuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D, not specified,
Charcot-Marie-Tooth disease type 2		Uncertain significance
(May 4, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr7:30673549
GRCh38:
Chr7:30633933
GARS1Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A, Distal spinal muscular atrophy
Benign
(Jan 13, 2018)		criteria provided, single submitter
45.
GRCh37:
Chr7:30673543
GRCh38:
Chr7:30633927
GARS1Charcot-Marie-Tooth disease type 2D, not provided, Distal spinal muscular atrophy,
Neuronopathy, distal hereditary motor, type 5A		Benign/Likely benign
(Aug 14, 2018)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr7:30673468
GRCh38:
Chr7:30633852
GARS1E738K, E684Knot provided, Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy,
Inborn genetic diseases, Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2
Benign/Likely benign
(Feb 28, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr7:30673467
GRCh38:
Chr7:30633851
GARS1Inborn genetic diseases, Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy,
Charcot-Marie-Tooth disease type 2, Neuronopathy, distal hereditary motor, type 5A		Conflicting interpretations of pathogenicity
(Dec 27, 2021)		criteria provided, conflicting interpretations
48.
GRCh37:
Chr7:30671882
GRCh38:
Chr7:30632266
GARS1not specified, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2D,
Neuronopathy, distal hereditary motor, type 5A, Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2
Benign/Likely benign
(Apr 5, 2021)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr7:30668299
GRCh38:
Chr7:30628683
GARS1Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy,
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, not specified
Conflicting interpretations of pathogenicity
(Nov 4, 2022)		criteria provided, conflicting interpretations
50.
GRCh37:
Chr7:30668237
GRCh38:
Chr7:30628621
GARS1not specified, Charcot-Marie-Tooth disease, not provided,
Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy, Neuronopathy, distal hereditary motor, type 5A,
Charcot-Marie-Tooth disease type 2		Benign
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr7:30661943
GRCh38:
Chr7:30622327
GARS1N493S, N439SDistal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D,
not provided, Neuronopathy, distal hereditary motor, type 5A		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
52.
GRCh37:
Chr7:30661069
GRCh38:
Chr7:30621453
GARS1Charcot-Marie-Tooth disease type 2, not specified, not provided,
Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy, Inborn genetic diseases,
Charcot-Marie-Tooth disease, Neuronopathy, distal hereditary motor, type 5A		Benign/Likely benign
(Oct 26, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr7:30655643
GRCh38:
Chr7:30616027
GARS1R388Q, R334QCharcot-Marie-Tooth disease, not provided, Charcot-Marie-Tooth disease type 2D,
Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2, not specified,
Neuronopathy, distal hereditary motor, type 5A		Benign/Likely benign
(Oct 31, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr7:30655580
GRCh38:
Chr7:30615964
GARS1N367S, N313Snot provided, Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy,
Inborn genetic diseases, Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2
Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
55.
GRCh37:
Chr7:30655539
GRCh38:
Chr7:30615923
GARS1H353Q, H299QCharcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A, Distal spinal muscular atrophy
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
56.
GRCh37:
Chr7:30651708
GRCh38:
Chr7:30612092
GARS1Inborn genetic diseases, Charcot-Marie-Tooth disease type 2D, not specified,
Neuronopathy, distal hereditary motor, type 5A, Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2
Conflicting interpretations of pathogenicity
(Nov 3, 2022)		criteria provided, conflicting interpretations
57.
GRCh37:
Chr7:30651697
GRCh38:
Chr7:30612081
GARS1not provided, Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy,
Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2		Conflicting interpretations of pathogenicity
(Aug 13, 2022)		criteria provided, conflicting interpretations
58.
GRCh37:
Chr7:30649231
GRCh38:
Chr7:30609615
GARS1D256H, D202HNeuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy,
not provided, Charcot-Marie-Tooth disease type 2		Benign/Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr7:30649230
GRCh38:
Chr7:30609614
GARS1Charcot-Marie-Tooth disease type 2, not provided, Charcot-Marie-Tooth disease type 2D,
Distal spinal muscular atrophy, Neuronopathy, distal hereditary motor, type 5A, Inborn genetic diseases
Conflicting interpretations of pathogenicity
(Aug 24, 2022)		criteria provided, conflicting interpretations
60.
GRCh37:
Chr7:30649229
GRCh38:
Chr7:30609613
GARS1A255V, A201VInborn genetic diseases, not specified, Charcot-Marie-Tooth disease type 2D,
Neuronopathy, distal hereditary motor, type 5A, Distal spinal muscular atrophy, Charcot-Marie-Tooth disease,
Charcot-Marie-Tooth disease type 2		Conflicting interpretations of pathogenicity
(May 31, 2023)		criteria provided, conflicting interpretations
61.
GRCh37:
Chr7:30643152
GRCh38:
Chr7:30603536
GARS1not provided, Distal spinal muscular atrophy, Inborn genetic diseases,
Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2,
not specified, Charcot-Marie-Tooth disease type 2D		Benign/Likely benign
(Apr 1, 2023)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr7:30639622
GRCh38:
Chr7:30600006
GARS1Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy, Inborn genetic diseases,
Charcot-Marie-Tooth disease type 2, Neuronopathy, distal hereditary motor, type 5A		Conflicting interpretations of pathogenicity
(Mar 22, 2020)		criteria provided, conflicting interpretations
63.
GRCh37:
Chr7:30638459
GRCh38:
Chr7:30598843
GARS1Inborn genetic diseases, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A,
Distal spinal muscular atrophy, not specified, not provided,
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2		Benign/Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr7:30634502
GRCh38:
Chr7:30594886
GARS1Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy, Neuronopathy, distal hereditary motor, type 5A
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
65.
GRCh37:
Chr7:30634502
GRCh38:
Chr7:30594886
GARS1Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy, Neuronopathy, distal hereditary motor, type 5A
Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
66.
GRCh37:
Chr7:30634479
GRCh38:
Chr7:30594863
GARS1Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy, Neuronopathy, distal hereditary motor, type 5A
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
67.
GRCh37:
Chr7:30634469
GRCh38:
Chr7:30594853
GARS1Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy, Neuronopathy, distal hereditary motor, type 5A
Benign
(Jan 13, 2018)		criteria provided, single submitter
68.
GRCh37:
Chr7:30634458
GRCh38:
Chr7:30594842
GARS1Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy, Neuronopathy, distal hereditary motor, type 5A
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
69.
GRCh37:
Chr7:30634361
GRCh38:
Chr7:30594745
GARS1Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy, not provided,
Neuronopathy, distal hereditary motor, type 5A		Benign/Likely benign
(Apr 1, 2023)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr7:30634341
GRCh38:
Chr7:30594725
GARS1Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
71.
GRCh37:
Chr7:30634333
GRCh38:
Chr7:30594717
GARS1Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy, not provided,
Neuronopathy, distal hereditary motor, type 5A		Benign/Likely benign
(Jun 14, 2018)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr7:30634321
GRCh38:
Chr7:30594705
GARS1not provided, Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy,
Neuronopathy, distal hereditary motor, type 5A		Benign
(Jun 16, 2018)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr7:30634313
GRCh38:
Chr7:30594697
GARS1not provided, Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy,
Neuronopathy, distal hereditary motor, type 5A		Benign/Likely benign
(Jun 16, 2018)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr7:30634301
GRCh38:
Chr7:30594685
GARS1Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy, Neuronopathy, distal hereditary motor, type 5A
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
75.
GRCh37:
Chr7:30634221
GRCh38:
Chr7:30594605
GARS1not provided, Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy,
Neuronopathy, distal hereditary motor, type 5A		Benign
(Jun 14, 2018)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr7:30649212
GRCh38:
Chr7:30609596
GARS1not specified, not provided, Charcot-Marie-Tooth disease type 2D,
Charcot-Marie-Tooth disease, Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2,
Neuronopathy, distal hereditary motor, type 5A		Benign
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr7:30643069
GRCh38:
Chr7:30603453
GARS1Spinal muscular atrophy, infantile, James type, Charcot-Marie-Tooth disease type 2D, not specified,
not provided, Neuronopathy, distal hereditary motor, type 5A		Benign
(Aug 10, 2021)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr7:30673345
GRCh38:
Chr7:30633729
GARS1Spinal muscular atrophy, infantile, James type, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2D,
Neuronopathy, distal hereditary motor, type 5A, Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2,
not specified, not provided		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr7:30634661
GRCh38:
Chr7:30595045
GARS1P42Anot specified, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A,
Charcot-Marie-Tooth disease, not provided, Distal spinal muscular atrophy,
Charcot-Marie-Tooth disease type 2, Spinal muscular atrophy, infantile, James type		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr7:30651875
GRCh38:
Chr7:30612259
GARS1not specified, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A,
Charcot-Marie-Tooth disease, Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2,
not provided		Benign/Likely benign
(Oct 31, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr7:30672001
GRCh38:
Chr7:30632385
GARS1P681L, P627LCharcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2,
Inborn genetic diseases		Uncertain significance
(Aug 24, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr7:30638494
GRCh38:
Chr7:30598878
GARS1K102R, K48RCharcot-Marie-Tooth disease type 2, not provided, Charcot-Marie-Tooth disease type 2D
Uncertain significance
(Jan 3, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr7:30638491
GRCh38:
Chr7:30598875
GARS1R101H, R47HDistal spinal muscular atrophy, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2,
not provided, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A
Conflicting interpretations of pathogenicity
(Aug 1, 2023)		criteria provided, conflicting interpretations
84.
GRCh37:
Chr7:30634548
GRCh38:
Chr7:30594932
GARS1P4Lnot provided, Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy,
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Neuronopathy, distal hereditary motor, type 5A,
not specified		Benign/Likely benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr7:30671921
GRCh38:
Chr7:30632305
GARS1Charcot-Marie-Tooth disease type 2, Distal spinal muscular atrophy, Inborn genetic diseases,
Charcot-Marie-Tooth disease, not specified, Neuronopathy, distal hereditary motor, type 5A,
not provided, Charcot-Marie-Tooth disease type 2D		Benign/Likely benign
(Apr 1, 2023)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr7:30651828
GRCh38:
Chr7:30612212
GARS1E333V, E279VNeuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2DLikely pathogenic
(Aug 6, 2013)		criteria provided, single submitter
87.
GRCh37:
Chr7:30671106
GRCh38:
Chr7:30631490
GARS1V618I, V564IDistal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2, Inborn genetic diseases,
not provided, Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D
Conflicting interpretations of pathogenicity
(Oct 14, 2022)		criteria provided, conflicting interpretations
88.
GRCh37:
Chr7:30671863
GRCh38:
Chr7:30632247
GARS1S635L, S581LInborn genetic diseases, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D
Conflicting interpretations of pathogenicity
(Oct 19, 2022)		criteria provided, conflicting interpretations
89.
GRCh37:
Chr7:30668192
GRCh38:
Chr7:30628576
GARS1Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2,
Distal spinal muscular atrophy, not provided, not specified,
Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
90.
GRCh37:
Chr7:30649268
GRCh38:
Chr7:30609652
GARS1T268I, T214IInborn genetic diseases, Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease type 2,
Charcot-Marie-Tooth disease, Neuronopathy, distal hereditary motor, type 5A, not specified,
not provided, Distal spinal muscular atrophy		Benign/Likely benign
(Oct 1, 2023)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr7:30634630
GRCh38:
Chr7:30595014
GARS1Distal spinal muscular atrophy, Charcot-Marie-Tooth disease, not specified,
Charcot-Marie-Tooth disease type 2, Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D,
Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr7:30673401
GRCh38:
Chr7:30633785
GARS1not specified, Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2,
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A
Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr7:30671087
GRCh38:
Chr7:30631471
GARS1Distal spinal muscular atrophy, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2,
not specified, not provided, Charcot-Marie-Tooth disease type 2D,
Neuronopathy, distal hereditary motor, type 5A		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr7:30662087
GRCh38:
Chr7:30622471
GARS1Distal spinal muscular atrophy, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2,
not provided, not specified, Charcot-Marie-Tooth disease type 2D,
Neuronopathy, distal hereditary motor, type 5A		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr7:30655542
GRCh38:
Chr7:30615926
GARS1Distal spinal muscular atrophy, not specified, Charcot-Marie-Tooth disease type 2,
Charcot-Marie-Tooth disease, not provided, Charcot-Marie-Tooth disease type 2D,
Neuronopathy, distal hereditary motor, type 5A		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr7:30634764
GRCh38:
Chr7:30595148
GARS1not specified, Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2,
Charcot-Marie-Tooth disease, Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D,
Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr7:30651723
GRCh38:
Chr7:30612107
GARS1P244L, P298LCharcot-Marie-Tooth disease type 2DConflicting interpretations of pathogenicity
(Jan 6, 2016)		no assertion criteria provided
98.
GRCh37:
Chr7:30665896
GRCh38:
Chr7:30626280
GARS1D500N, D554NDistal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A
Conflicting interpretations of pathogenicity
(Jan 1, 2019)		criteria provided, conflicting interpretations
99.
GRCh37:
Chr7:30668214
GRCh38:
Chr7:30628598
GARS1G526R, G580RCharcot-Marie-Tooth disease type 2Pathogenic
(Aug 28, 2021)		criteria provided, single submitter
100.
GRCh37:
Chr7:30639612
GRCh38:
Chr7:30599996
GARS1E71G, E125GCharcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A
Conflicting interpretations of pathogenicity
(Jan 6, 2016)		no assertion criteria provided
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