U.S. flag

An official website of the United States government

Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 129

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr7:30651834
GRCh38:
Chr7:30612218
GARS1S281F, S335FNeuronopathy, distal hereditary motor, type 5AUncertain significance
(Feb 23, 2023)		criteria provided, single submitter
2.
GRCh37:
Chr7:30639614
GRCh38:
Chr7:30599998
GARS1D126N, D72NCharcot-Marie-Tooth disease type 2, Neuronopathy, distal hereditary motor, type 5AUncertain significance
(Dec 20, 2022)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr7:30672033
GRCh38:
Chr7:30632417
GARS1M638V, M692VNeuronopathy, distal hereditary motor, type 5AUncertain significance
(Sep 5, 2022)		criteria provided, single submitter
4.
GRCh37:
Chr7:30651807
GRCh38:
Chr7:30612191
GARS1I272T, I326TNeuronopathy, distal hereditary motor, type 5AUncertain significance
(Aug 26, 2022)		criteria provided, single submitter
5.
GRCh37:
Chr7:30651845
GRCh38:
Chr7:30612229
GARS1G285R, G339RNeuronopathy, distal hereditary motor, type 5A, not providedPathogenic/Likely pathogenic
(Sep 16, 2021)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr7:30651832
GRCh38:
Chr7:30612216
GARS1I280M, I334MSee cases, Charcot-Marie-Tooth disease type 2, Neuronopathy, distal hereditary motor, type 5A
Conflicting interpretations of pathogenicity
(May 4, 2022)		criteria provided, conflicting interpretations
7.
GRCh37:
Chr7:30673621
GRCh38:
Chr7:30634005
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
8.
GRCh37:
Chr7:30655677
GRCh38:
Chr7:30616061
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
9.
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
10.
GRCh37:
Chr7:30634469
GRCh38:
Chr7:30594853
GARS1Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
11.
GRCh37:
Chr7:30668246
GRCh38:
Chr7:30628630
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:
Chr7:30655623
GRCh38:
Chr7:30616007
GARS1Q381H, Q327HDistal spinal muscular atrophy, Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
13.
GRCh37:
Chr7:30634453
GRCh38:
Chr7:30594837
GARS1Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy,
not provided		Conflicting interpretations of pathogenicity
(Aug 14, 2018)		criteria provided, conflicting interpretations
14.
GRCh37:
Chr7:30634372
GRCh38:
Chr7:30594756
GARS1Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
15.
GRCh37:
Chr7:30634258
GRCh38:
Chr7:30594642
GARS1Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy
Benign
(Jan 13, 2018)		criteria provided, single submitter
16.
GRCh37:
Chr7:30634358
GRCh38:
Chr7:30594742
GARS1Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
17.
GRCh37:
Chr7:30656788
GRCh38:
Chr7:30617172
GARS1T364M, T418MDistal spinal muscular atrophy, Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2,
Charcot-Marie-Tooth disease type 2D		Conflicting interpretations of pathogenicity
(Dec 21, 2021)		criteria provided, conflicting interpretations
18.
GRCh37:
Chr7:30634474
GRCh38:
Chr7:30594858
GARS1Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
19.
GRCh37:
Chr7:30634343
GRCh38:
Chr7:30594727
GARS1Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
20.
GRCh37:
Chr11:62458771
GRCh38:
Chr11:62691299
BSCL2, HNRNPUL2-BSCL2R265Q, R329QCharcot-Marie-Tooth disease type 2, Congenital generalized lipodystrophy type 2, Neuronopathy, distal hereditary motor, type 5A,
Neuronopathy, distal hereditary motor, type 5C, Congenital generalized lipodystrophy type 2, Hereditary spastic paraplegia 17,
Severe neurodegenerative syndrome with lipodystrophy		Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr11:62458766
GRCh38:
Chr11:62691294
BSCL2, HNRNPUL2-BSCL2R331C, R267CCharcot-Marie-Tooth disease type 2, Congenital generalized lipodystrophy type 2, Neuronopathy, distal hereditary motor, type 5A
Uncertain significance
(Sep 7, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr11:62458118
GRCh38:
Chr11:62690646
BSCL2, HNRNPUL2-BSCL2Charcot-Marie-Tooth disease type 2, Congenital generalized lipodystrophy type 2, Neuronopathy, distal hereditary motor, type 5A
Conflicting interpretations of pathogenicity
(Apr 12, 2022)		criteria provided, conflicting interpretations
23.
GRCh37:
Chr11:62457781
GRCh38:
Chr11:62690309
BSCL2, HNRNPUL2-BSCL2Neuronopathy, distal hereditary motor, type 5A, Congenital generalized lipodystrophy type 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
24.
GRCh37:
Chr7:30665930
GRCh38:
Chr7:30626314
GARS1L511Q, L565QInborn genetic diseases, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A,
Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2		Conflicting interpretations of pathogenicity
(Sep 19, 2022)		criteria provided, conflicting interpretations
25.
GRCh37:
Chr7:30642727
GRCh38:
Chr7:30603111
GARS1H162R, H216RCharcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5APathogenic/Likely pathogenic
(May 4, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr7:30651809
GRCh38:
Chr7:30612193
GARS1G273R, G327RCharcot-Marie-Tooth disease type 2, Neuronopathy, distal hereditary motor, type 5APathogenic
(Apr 25, 2022)		criteria provided, multiple submitters, no conflicts
27.
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
28.
GRCh37:
Chr11:62470002
GRCh38:
Chr11:62702530
BSCL2, HNRNPUL2-BSCL2T142A, T78ACongenital generalized lipodystrophy type 2, Neuronopathy, distal hereditary motor, type 5AUncertain significance
(Dec 4, 2018)		criteria provided, single submitter
29.
GRCh37:
Chr7:30642723
GRCh38:
Chr7:30603107
GARS1D215H, D161HNeuronopathy, distal hereditary motor, type 5ALikely pathogenic
(Sep 21, 2017)		no assertion criteria provided
30.
GRCh37:
Chr11:62458116
GRCh38:
Chr11:62690644
HNRNPUL2-BSCL2, BSCL2G337E, G401E, G403ECharcot-Marie-Tooth disease type 2, Congenital generalized lipodystrophy type 2, Neuronopathy, distal hereditary motor, type 5A,
Congenital generalized lipodystrophy type 2, Hereditary spastic paraplegia 17, Neuronopathy, distal hereditary motor, type 5C,
Severe neurodegenerative syndrome with lipodystrophy		Uncertain significance
(Jul 5, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr11:62457930
GRCh38:
Chr11:62690458
BSCL2, HNRNPUL2-BSCL2A369V, A433V, A435VNeuronopathy, distal hereditary motor, type 5A, Hereditary spastic paraplegia 17, Severe neurodegenerative syndrome with lipodystrophy,
Congenital generalized lipodystrophy type 2, Hereditary spastic paraplegia, Charcot-Marie-Tooth disease type 2
Uncertain significance
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr11:62459901
GRCh38:
Chr11:62692429
BSCL2, HNRNPUL2-BSCL2Inborn genetic diseases, Congenital generalized lipodystrophy type 2, Neuronopathy, distal hereditary motor, type 5A,
Charcot-Marie-Tooth disease type 2, not specified		Conflicting interpretations of pathogenicity
(Feb 9, 2022)		criteria provided, conflicting interpretations
33.
GRCh37:
Chr11:62458077
GRCh38:
Chr11:62690605
BSCL2, HNRNPUL2-BSCL2not specified, not provided, Charcot-Marie-Tooth disease type 2,
Hereditary spastic paraplegia, Congenital generalized lipodystrophy type 2, Neuronopathy, distal hereditary motor, type 5A
Conflicting interpretations of pathogenicity
(Nov 4, 2022)		criteria provided, conflicting interpretations
34.
GRCh37:
Chr7:30643153
GRCh38:
Chr7:30603537
GARS1E234K, E180KDistal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D,
Neuronopathy, distal hereditary motor, type 5A		Benign/Likely benign
(Aug 19, 2021)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr7:30651830
GRCh38:
Chr7:30612214
GARS1I334F, I280Fnot provided, Charcot-Marie-Tooth disease type 2Pathogenic
(May 23, 2023)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr7:30634493
GRCh38:
Chr7:30594877
GARS1Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5Anot providedno assertion provided
37.
GRCh37:
Chr7:30640809
GRCh38:
Chr7:30601193
GARS1V188I, V134ICharcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2,
not provided, Neuronopathy, distal hereditary motor, type 5A		Conflicting interpretations of pathogenicity
(Jul 22, 2022)		criteria provided, conflicting interpretations
38.
GRCh37:
Chr7:30638442
GRCh38:
Chr7:30598826
GARS1K85E, K31EInborn genetic diseases, Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease type 2,
Neuronopathy, distal hereditary motor, type 5A, Distal spinal muscular atrophy, not specified,
not provided		Conflicting interpretations of pathogenicity
(Oct 28, 2022)		criteria provided, conflicting interpretations
39.
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
40.
GRCh37:
Chr7:30638451
GRCh38:
Chr7:30598835
GARS1Q88E, Q34EInborn genetic diseases, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A,
not provided, Charcot-Marie-Tooth disease type 2		Conflicting interpretations of pathogenicity
(Apr 15, 2022)		criteria provided, conflicting interpretations
41.
GRCh37:
Chr7:30655666
GRCh38:
Chr7:30616050
GARS1V396I, V342ICharcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A, not specified,
Charcot-Marie-Tooth disease type 2		Uncertain significance
(May 4, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr7:30673549
GRCh38:
Chr7:30633933
GARS1Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A
Benign
(Jan 13, 2018)		criteria provided, single submitter
43.
GRCh37:
Chr7:30673543
GRCh38:
Chr7:30633927
GARS1Distal spinal muscular atrophy, not provided, Charcot-Marie-Tooth disease type 2D,
Neuronopathy, distal hereditary motor, type 5A		Benign/Likely benign
(Aug 14, 2018)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr7:30673468
GRCh38:
Chr7:30633852
GARS1E738K, E684KDistal spinal muscular atrophy, Inborn genetic diseases, not provided,
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A
Benign/Likely benign
(Feb 28, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr7:30673467
GRCh38:
Chr7:30633851
GARS1Distal spinal muscular atrophy, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2,
Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A		Conflicting interpretations of pathogenicity
(Dec 27, 2021)		criteria provided, conflicting interpretations
46.
GRCh37:
Chr7:30671882
GRCh38:
Chr7:30632266
GARS1Distal spinal muscular atrophy, Inborn genetic diseases, not specified,
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A
Benign/Likely benign
(Apr 5, 2021)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr7:30668299
GRCh38:
Chr7:30628683
GARS1Distal spinal muscular atrophy, not specified, Charcot-Marie-Tooth disease,
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A
Conflicting interpretations of pathogenicity
(Nov 4, 2022)		criteria provided, conflicting interpretations
48.
GRCh37:
Chr7:30668237
GRCh38:
Chr7:30628621
GARS1Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D,
Distal spinal muscular atrophy, not specified, not provided,
Neuronopathy, distal hereditary motor, type 5A		Benign
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr7:30661943
GRCh38:
Chr7:30622327
GARS1N493S, N439SNeuronopathy, distal hereditary motor, type 5A, Distal spinal muscular atrophy, not provided,
Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease type 2		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
50.
GRCh37:
Chr7:30661069
GRCh38:
Chr7:30621453
GARS1Inborn genetic diseases, Charcot-Marie-Tooth disease, Distal spinal muscular atrophy,
Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2,
not specified, not provided		Benign/Likely benign
(Oct 26, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr7:30655643
GRCh38:
Chr7:30616027
GARS1R388Q, R334QCharcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D,
Neuronopathy, distal hereditary motor, type 5A, not specified, Distal spinal muscular atrophy,
not provided		Benign/Likely benign
(Oct 31, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr7:30655580
GRCh38:
Chr7:30615964
GARS1N367S, N313SInborn genetic diseases, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A,
Charcot-Marie-Tooth disease type 2, Distal spinal muscular atrophy, not provided
Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
53.
GRCh37:
Chr7:30655539
GRCh38:
Chr7:30615923
GARS1H353Q, H299QDistal spinal muscular atrophy, Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
54.
GRCh37:
Chr7:30651708
GRCh38:
Chr7:30612092
GARS1Inborn genetic diseases, Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2,
not specified, Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D
Conflicting interpretations of pathogenicity
(Nov 3, 2022)		criteria provided, conflicting interpretations
55.
GRCh37:
Chr7:30651697
GRCh38:
Chr7:30612081
GARS1Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2, not provided,
Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D		Conflicting interpretations of pathogenicity
(Aug 13, 2022)		criteria provided, conflicting interpretations
56.
GRCh37:
Chr7:30649231
GRCh38:
Chr7:30609615
GARS1D256H, D202HCharcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D, not provided,
Distal spinal muscular atrophy, Neuronopathy, distal hereditary motor, type 5A		Benign/Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr7:30649230
GRCh38:
Chr7:30609614
GARS1Inborn genetic diseases, Neuronopathy, distal hereditary motor, type 5A, Distal spinal muscular atrophy,
not provided, Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease type 2
Conflicting interpretations of pathogenicity
(Aug 24, 2022)		criteria provided, conflicting interpretations
58.
GRCh37:
Chr7:30649229
GRCh38:
Chr7:30609613
GARS1A255V, A201VInborn genetic diseases, Distal spinal muscular atrophy, Charcot-Marie-Tooth disease,
Charcot-Marie-Tooth disease type 2, not specified, Neuronopathy, distal hereditary motor, type 5A,
Charcot-Marie-Tooth disease type 2D		Conflicting interpretations of pathogenicity
(May 31, 2023)		criteria provided, conflicting interpretations
59.
GRCh37:
Chr7:30643152
GRCh38:
Chr7:30603536
GARS1Inborn genetic diseases, Charcot-Marie-Tooth disease, Distal spinal muscular atrophy,
Charcot-Marie-Tooth disease type 2, not specified, not provided,
Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A		Benign/Likely benign
(Sep 28, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr7:30639622
GRCh38:
Chr7:30600006
GARS1Inborn genetic diseases, Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2,
Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A		Conflicting interpretations of pathogenicity
(Mar 22, 2020)		criteria provided, conflicting interpretations
61.
GRCh37:
Chr7:30638459
GRCh38:
Chr7:30598843
GARS1Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2,
Distal spinal muscular atrophy, not specified, not provided,
Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D		Benign/Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr7:30634502
GRCh38:
Chr7:30594886
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
63.
GRCh37:
Chr7:30634502
GRCh38:
Chr7:30594886
GARS1Distal spinal muscular atrophy, Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D
Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
64.
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
65.
GRCh37:
Chr7:30634469
GRCh38:
Chr7:30594853
GARS1Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A, Distal spinal muscular atrophy
Benign
(Jan 13, 2018)		criteria provided, single submitter
66.
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
67.
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
68.
GRCh37:
Chr7:30634341
GRCh38:
Chr7:30594725
GARS1Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy, Neuronopathy, distal hereditary motor, type 5A
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
69.
GRCh37:
Chr7:30634333
GRCh38:
Chr7:30594717
GARS1Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A, not provided,
Distal spinal muscular atrophy		Benign/Likely benign
(Jun 14, 2018)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr7:30634321
GRCh38:
Chr7:30594705
GARS1Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy, not provided,
Neuronopathy, distal hereditary motor, type 5A		Benign
(Jun 16, 2018)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr7:30634313
GRCh38:
Chr7:30594697
GARS1Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A, Distal spinal muscular atrophy,
not provided		Benign/Likely benign
(Jun 16, 2018)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr7:30634301
GRCh38:
Chr7:30594685
GARS1Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A, Distal spinal muscular atrophy
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
73.
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
74.
GRCh37:
Chr11:62473763
GRCh38:
Chr11:62706291
BSCL2, HNRNPUL2-BSCL2Neuronopathy, distal hereditary motor, type 5A, Congenital generalized lipodystrophy type 2Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
75.
GRCh37:
Chr11:62473752
GRCh38:
Chr11:62706280
BSCL2, HNRNPUL2-BSCL2not provided, Hereditary spastic paraplegia, Neuronopathy, distal hereditary motor, type 5A,
Congenital generalized lipodystrophy type 2		Conflicting interpretations of pathogenicity
(May 15, 2021)		criteria provided, conflicting interpretations
76.
GRCh37:
Chr11:62473751
GRCh38:
Chr11:62706279
BSCL2, HNRNPUL2-BSCL2not provided, Hereditary spastic paraplegia, Congenital generalized lipodystrophy type 2,
Neuronopathy, distal hereditary motor, type 5A		Conflicting interpretations of pathogenicity
(May 15, 2021)		criteria provided, conflicting interpretations
77.
GRCh37:
Chr11:62473723
GRCh38:
Chr11:62706251
BSCL2, HNRNPUL2-BSCL2Neuronopathy, distal hereditary motor, type 5A, Congenital generalized lipodystrophy type 2Likely benign
(Jan 13, 2018)		criteria provided, single submitter
78.
GRCh37:
Chr11:62473709
GRCh38:
Chr11:62706237
BSCL2, HNRNPUL2-BSCL2Neuronopathy, distal hereditary motor, type 5A, Congenital generalized lipodystrophy type 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
79.
GRCh37:
Chr11:62473702
GRCh38:
Chr11:62706230
BSCL2, HNRNPUL2-BSCL2not provided, Neuronopathy, distal hereditary motor, type 5A, Congenital generalized lipodystrophy type 2
Benign/Likely benign
(Feb 26, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr11:62473053
GRCh38:
Chr11:62705581
HNRNPUL2-BSCL2, BSCL2R42Cnot specified, not provided, Neuronopathy, distal hereditary motor, type 5A,
Congenital generalized lipodystrophy type 2		Conflicting interpretations of pathogenicity
(Jun 1, 2019)		criteria provided, conflicting interpretations
81.
GRCh37:
Chr11:62473046
GRCh38:
Chr11:62705574
BSCL2, HNRNPUL2-BSCL2G44DNeuronopathy, distal hereditary motor, type 5A, Congenital generalized lipodystrophy type 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
82.
GRCh37:
Chr11:62473044
GRCh38:
Chr11:62705572
BSCL2, HNRNPUL2-BSCL2G45SCharcot-Marie-Tooth disease type 2, not provided, Congenital generalized lipodystrophy type 2,
Neuronopathy, distal hereditary motor, type 5A, Hereditary spastic paraplegia 17, Congenital generalized lipodystrophy type 2,
Severe neurodegenerative syndrome with lipodystrophy, Neuronopathy, distal hereditary motor, type 5C		Benign/Likely benign
(Oct 1, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr11:62472993
GRCh38:
Chr11:62705521
BSCL2, HNRNPUL2-BSCL2L62FNeuronopathy, distal hereditary motor, type 5A, Congenital generalized lipodystrophy type 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
84.
GRCh37:
Chr11:62462126
GRCh38:
Chr11:62694654
BSCL2, HNRNPUL2-BSCL2P118T, P182TNeuronopathy, distal hereditary motor, type 5A, Congenital generalized lipodystrophy type 2Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
85.
GRCh37:
Chr11:62462055
GRCh38:
Chr11:62694583
BSCL2, HNRNPUL2-BSCL2Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, not provided,
Neuronopathy, distal hereditary motor, type 5A, Congenital generalized lipodystrophy type 2		Conflicting interpretations of pathogenicity
(Aug 21, 2022)		criteria provided, conflicting interpretations
86.
GRCh37:
Chr11:62460155
GRCh38:
Chr11:62692683
BSCL2, HNRNPUL2-BSCL2A249S, A185SCharcot-Marie-Tooth disease type 2, Neuronopathy, distal hereditary motor, type 5A, Congenital generalized lipodystrophy type 2
Uncertain significance
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr11:62459888
GRCh38:
Chr11:62692416
BSCL2, HNRNPUL2-BSCL2G211R, G275RCharcot-Marie-Tooth disease type 2, Inborn genetic diseases, not provided,
Neuronopathy, distal hereditary motor, type 5A, Congenital generalized lipodystrophy type 2		Conflicting interpretations of pathogenicity
(Jul 19, 2022)		criteria provided, conflicting interpretations
88.
GRCh37:
Chr11:62459866
GRCh38:
Chr11:62692394
BSCL2, HNRNPUL2-BSCL2A218V, A282VInborn genetic diseases, not specified, Monogenic diabetes,
Charcot-Marie-Tooth disease type 2, not provided, Congenital generalized lipodystrophy type 2,
Neuronopathy, distal hereditary motor, type 5A		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr11:62459850
GRCh38:
Chr11:62692378
BSCL2, HNRNPUL2-BSCL2not specified, Charcot-Marie-Tooth disease type 2, Inborn genetic diseases,
Neuronopathy, distal hereditary motor, type 5A, Congenital generalized lipodystrophy type 2		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
90.
GRCh37:
Chr11:62458818
GRCh38:
Chr11:62691346
BSCL2, HNRNPUL2-BSCL2not specified, Charcot-Marie-Tooth disease type 2, Inborn genetic diseases,
not provided, Neuronopathy, distal hereditary motor, type 5A, Congenital generalized lipodystrophy type 2
Benign/Likely benign
(Sep 28, 2022)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr11:62458565
GRCh38:
Chr11:62691093
BSCL2, HNRNPUL2-BSCL2I288V, I352VNeuronopathy, distal hereditary motor, type 5A, Congenital generalized lipodystrophy type 2Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
92.
GRCh37:
Chr11:62458070
GRCh38:
Chr11:62690598
BSCL2, HNRNPUL2-BSCL2Charcot-Marie-Tooth disease type 2, Congenital generalized lipodystrophy type 2, Neuronopathy, distal hereditary motor, type 5A
Conflicting interpretations of pathogenicity
(Aug 1, 2022)		criteria provided, conflicting interpretations
93.
GRCh37:
Chr11:62457790
GRCh38:
Chr11:62690318
BSCL2, HNRNPUL2-BSCL2Neuronopathy, distal hereditary motor, type 5A, Congenital generalized lipodystrophy type 2Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
94.
GRCh37:
Chr7:30649212
GRCh38:
Chr7:30609596
GARS1not specified, Charcot-Marie-Tooth disease type 2, Distal spinal muscular atrophy,
not provided, Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease,
Charcot-Marie-Tooth disease type 2D		Benign
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr7:30643069
GRCh38:
Chr7:30603453
GARS1Spinal muscular atrophy, infantile, James type, not specified, not provided,
Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A		Benign
(Aug 10, 2021)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr7:30673345
GRCh38:
Chr7:30633729
GARS1Spinal muscular atrophy, infantile, James type, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2,
not specified, not provided, Distal spinal muscular atrophy,
Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr7:30634661
GRCh38:
Chr7:30595045
GARS1P42ASpinal muscular atrophy, infantile, James type, Charcot-Marie-Tooth disease type 2, not provided,
Distal spinal muscular atrophy, not specified, Neuronopathy, distal hereditary motor, type 5A,
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2D		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr7:30651875
GRCh38:
Chr7:30612259
GARS1not specified, Charcot-Marie-Tooth disease type 2, not provided,
Distal spinal muscular atrophy, Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease,
Charcot-Marie-Tooth disease type 2D		Benign/Likely benign
(Oct 31, 2022)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr11:62460120
GRCh38:
Chr11:62692648
BSCL2, HNRNPUL2-BSCL2Charcot-Marie-Tooth disease type 2, not specified, not provided,
Congenital generalized lipodystrophy type 2, Neuronopathy, distal hereditary motor, type 5A		Benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr11:62469929
GRCh38:
Chr11:62702457
BSCL2, HNRNPUL2-BSCL2Neuronopathy, distal hereditary motor, type 5C, Severe neurodegenerative syndrome with lipodystrophy, Charcot-Marie-Tooth disease type 2,
not specified, not provided, Congenital generalized lipodystrophy type 2,
Hereditary spastic paraplegia 17, Neuronopathy, distal hereditary motor, type 5A		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination