| - GRCh37:
- Chr7:30634692
- GRCh38:
- Chr7:30595076
| GARS1 | R52Q | Charcot-Marie-Tooth disease type 2D | Uncertain significance
(Nov 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:30651837
- GRCh38:
- Chr7:30612221
| GARS1 | P282H, P336H | Charcot-Marie-Tooth disease type 2D | Pathogenic
(Feb 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr7:30656831
- GRCh38:
- Chr7:30617215
| GARS1 | H378Q, H432Q | Charcot-Marie-Tooth disease type 2D | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr7:30642678
- GRCh38:
- Chr7:30603062
| GARS1 | D146Y, D200Y | Charcot-Marie-Tooth disease type 2D | not provided | no assertion provided |
| - GRCh37:
- Chr7:30649259
- GRCh38:
- Chr7:30609643
| GARS1 | S265Y, S211Y | Charcot-Marie-Tooth disease type 2D | Pathogenic
(Nov 16, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr7:30673621
- GRCh38:
- Chr7:30634005
| GARS1 | | Distal spinal muscular atrophy, Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:30655677
- GRCh38:
- Chr7:30616061
| GARS1 | | Distal spinal muscular atrophy, Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:30655668
- GRCh38:
- Chr7:30616052
| GARS1 | | Distal spinal muscular atrophy, Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:30634469
- GRCh38:
- Chr7:30594853
| GARS1 | | Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A, Distal spinal muscular atrophy
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:30668246
- GRCh38:
- Chr7:30628630
| GARS1 | | Distal spinal muscular atrophy, Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:30655623
- GRCh38:
- Chr7:30616007
| GARS1 | Q381H, Q327H | Distal spinal muscular atrophy, Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:30634453
- GRCh38:
- Chr7:30594837
| GARS1 | | Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A, Distal spinal muscular atrophy,
not provided | Conflicting interpretations of pathogenicity
(Aug 14, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:30634372
- GRCh38:
- Chr7:30594756
| GARS1 | | Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A, Distal spinal muscular atrophy
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:30634258
- GRCh38:
- Chr7:30594642
| GARS1 | | Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A, Distal spinal muscular atrophy
| Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:30634358
- GRCh38:
- Chr7:30594742
| GARS1 | | Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A, Distal spinal muscular atrophy
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:30656788
- GRCh38:
- Chr7:30617172
| GARS1 | T364M, T418M | Distal 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 |
| - GRCh37:
- Chr7:30634474
- GRCh38:
- Chr7:30594858
| GARS1 | | Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A, Distal spinal muscular atrophy
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:30634343
- GRCh38:
- Chr7:30594727
| GARS1 | | Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A, Distal spinal muscular atrophy
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:30665930
- GRCh38:
- Chr7:30626314
| GARS1 | L511Q, L565Q | 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 | Conflicting interpretations of pathogenicity
(Sep 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:30634571
- GRCh38:
- Chr7:30594955
| GARS1 | A12T | Charcot-Marie-Tooth disease type 2D | Uncertain significance
(Sep 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:30642727
- GRCh38:
- Chr7:30603111
| GARS1 | H162R, H216R | Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A | Pathogenic/Likely pathogenic
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:30642696
- GRCh38:
- Chr7:30603080
| GARS1 | V152I, V206I | Distal 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 |
| - GRCh37:
- Chr7:30639570
- GRCh38:
- Chr7:30599954
| GARS1 | A111V, A57V | Charcot-Marie-Tooth disease type 2 | Uncertain significance
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:30673415
- GRCh38:
- Chr7:30633799
| GARS1 | E720A, E666A | Inborn 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 |
| - GRCh37:
- Chr7:30651831
- GRCh38:
- Chr7:30612215
| GARS1 | I334N, I280N | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D | Pathogenic/Likely pathogenic
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:30643153
- GRCh38:
- Chr7:30603537
| GARS1 | E234K, E180K | Distal 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 |
| - GRCh37:
- Chr7:30651830
- GRCh38:
- Chr7:30612214
| GARS1 | I334F, I280F | not provided, Charcot-Marie-Tooth disease type 2 | Pathogenic
(May 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:30634493
- GRCh38:
- Chr7:30594877
| GARS1 | | Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A | not provided | no assertion provided |
| - GRCh37:
- Chr7:30640809
- GRCh38:
- Chr7:30601193
| GARS1 | V188I, V134I | Charcot-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 |
| - GRCh37:
- Chr7:30638442
- GRCh38:
- Chr7:30598826
| GARS1 | K85E, K31E | Inborn 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 |
| - GRCh37:
- Chr7:30638451
- GRCh38:
- Chr7:30598835
| GARS1 | Q88E, Q34E | Inborn 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 |
| - GRCh37:
- Chr7:30655666
- GRCh38:
- Chr7:30616050
| GARS1 | V396I, V342I | Charcot-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 |
| - GRCh37:
- Chr7:30673549
- GRCh38:
- Chr7:30633933
| GARS1 | | Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A
| Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:30673543
- GRCh38:
- Chr7:30633927
| GARS1 | | Distal 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 |
| - GRCh37:
- Chr7:30673468
- GRCh38:
- Chr7:30633852
| GARS1 | E738K, E684K | Distal 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 |
| - GRCh37:
- Chr7:30673467
- GRCh38:
- Chr7:30633851
| GARS1 | | Distal 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 |
| - GRCh37:
- Chr7:30671882
- GRCh38:
- Chr7:30632266
| GARS1 | | Distal 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 |
| - GRCh37:
- Chr7:30668299
- GRCh38:
- Chr7:30628683
| GARS1 | | Distal 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 |
| - GRCh37:
- Chr7:30668237
- GRCh38:
- Chr7:30628621
| GARS1 | | not specified, Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy,
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, not provided,
Neuronopathy, distal hereditary motor, type 5A | Benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:30661943
- GRCh38:
- Chr7:30622327
| GARS1 | N493S, N439S | 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
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:30661069
- GRCh38:
- Chr7:30621453
| GARS1 | | Inborn 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 |
| - GRCh37:
- Chr7:30655643
- GRCh38:
- Chr7:30616027
| GARS1 | R388Q, R334Q | not provided, Distal spinal muscular atrophy, Charcot-Marie-Tooth disease,
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D, not specified,
Neuronopathy, distal hereditary motor, type 5A | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:30655580
- GRCh38:
- Chr7:30615964
| GARS1 | N367S, N313S | not provided, Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D,
Distal spinal muscular atrophy, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:30655539
- GRCh38:
- Chr7:30615923
| GARS1 | H353Q, H299Q | Distal spinal muscular atrophy, Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:30651708
- GRCh38:
- Chr7:30612092
| GARS1 | | Inborn 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 |
| - GRCh37:
- Chr7:30651697
- GRCh38:
- Chr7:30612081
| GARS1 | | Distal 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 |
| - GRCh37:
- Chr7:30649231
- GRCh38:
- Chr7:30609615
| GARS1 | D256H, D202H | Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D,
Neuronopathy, distal hereditary motor, type 5A, not provided | Benign/Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:30649230
- GRCh38:
- Chr7:30609614
| GARS1 | | Inborn 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 |
| - GRCh37:
- Chr7:30649229
- GRCh38:
- Chr7:30609613
| GARS1 | A255V, A201V | Inborn 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 |
| - GRCh37:
- Chr7:30643152
- GRCh38:
- Chr7:30603536
| GARS1 | | Inborn 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 |
| - GRCh37:
- Chr7:30639622
- GRCh38:
- Chr7:30600006
| GARS1 | | Inborn 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 |
| - GRCh37:
- Chr7:30638459
- GRCh38:
- Chr7:30598843
| GARS1 | | Inborn 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 |
| - GRCh37:
- Chr7:30634502
- GRCh38:
- Chr7:30594886
| GARS1 | | Distal spinal muscular atrophy, Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:30634502
- GRCh38:
- Chr7:30594886
| GARS1 | | Distal 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 |
| - GRCh37:
- Chr7:30634479
- GRCh38:
- Chr7:30594863
| GARS1 | | Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:30634469
- GRCh38:
- Chr7:30594853
| GARS1 | | Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy, Neuronopathy, distal hereditary motor, type 5A
| Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:30634458
- GRCh38:
- Chr7:30594842
| GARS1 | | Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:30634361
- GRCh38:
- Chr7:30594745
| GARS1 | | Charcot-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 |
| - GRCh37:
- Chr7:30634341
- GRCh38:
- Chr7:30594725
| GARS1 | | Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:30634333
- GRCh38:
- Chr7:30594717
| GARS1 | | Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy,
not provided | Benign/Likely benign
(Jun 14, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:30634321
- GRCh38:
- Chr7:30594705
| GARS1 | | not provided, Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2D,
Neuronopathy, distal hereditary motor, type 5A | Benign
(Jun 16, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:30634313
- GRCh38:
- Chr7:30594697
| GARS1 | | Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy,
not provided | Benign/Likely benign
(Jun 16, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:30634301
- GRCh38:
- Chr7:30594685
| GARS1 | | Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy, Neuronopathy, distal hereditary motor, type 5A
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:30634221
- GRCh38:
- Chr7:30594605
| GARS1 | | Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy, not provided,
Neuronopathy, distal hereditary motor, type 5A | Benign
(Jun 14, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:30649212
- GRCh38:
- Chr7:30609596
| GARS1 | | Charcot-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
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:30643069
- GRCh38:
- Chr7:30603453
| GARS1 | | Spinal 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 |
| - GRCh37:
- Chr7:30673345
- GRCh38:
- Chr7:30633729
| GARS1 | | Spinal muscular atrophy, infantile, James type, Charcot-Marie-Tooth disease, not specified,
Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2,
not provided, Neuronopathy, distal hereditary motor, type 5A | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:30634661
- GRCh38:
- Chr7:30595045
| GARS1 | P42A | Charcot-Marie-Tooth disease, not specified, Charcot-Marie-Tooth disease type 2D,
Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2, not provided,
Spinal muscular atrophy, infantile, James type, Neuronopathy, distal hereditary motor, type 5A | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:30651875
- GRCh38:
- Chr7:30612259
| GARS1 | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy,
Charcot-Marie-Tooth disease type 2, not provided, not specified,
Neuronopathy, distal hereditary motor, type 5A | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:30672001
- GRCh38:
- Chr7:30632385
| GARS1 | P681L, P627L | Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D,
Neuronopathy, distal hereditary motor, type 5A | Uncertain significance
(Aug 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:30638494
- GRCh38:
- Chr7:30598878
| GARS1 | K102R, K48R | Charcot-Marie-Tooth disease type 2, not provided, Charcot-Marie-Tooth disease type 2D
| Uncertain significance
(Jan 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:30638491
- GRCh38:
- Chr7:30598875
| GARS1 | R101H, R47H | Distal 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
(Nov 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:30634548
- GRCh38:
- Chr7:30594932
| GARS1 | P4L | not provided, Distal spinal muscular atrophy, Charcot-Marie-Tooth disease,
Neuronopathy, distal hereditary motor, type 5A, not specified, Charcot-Marie-Tooth disease type 2,
Charcot-Marie-Tooth disease type 2D | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:30671921
- GRCh38:
- Chr7:30632305
| GARS1 | | Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2, not specified,
Inborn genetic diseases, Charcot-Marie-Tooth disease, not provided,
Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A | Benign/Likely benign
(Apr 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:30651828
- GRCh38:
- Chr7:30612212
| GARS1 | E333V, E279V | Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D | Likely pathogenic
(Aug 6, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr7:30671106
- GRCh38:
- Chr7:30631490
| GARS1 | V618I, V564I | Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2D, Inborn genetic diseases,
not provided, Charcot-Marie-Tooth disease type 2, Neuronopathy, distal hereditary motor, type 5A
| Conflicting interpretations of pathogenicity
(Oct 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:30671863
- GRCh38:
- Chr7:30632247
| GARS1 | S635L, S581L | Charcot-Marie-Tooth disease type 2D, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
| Conflicting interpretations of pathogenicity
(Oct 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:30668192
- GRCh38:
- Chr7:30628576
| GARS1 | | Distal spinal muscular atrophy, Inborn genetic diseases, 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 | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:30649268
- GRCh38:
- Chr7:30609652
| GARS1 | T268I, T214I | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Distal spinal muscular atrophy,
not specified, not provided, Charcot-Marie-Tooth disease type 2D,
Neuronopathy, distal hereditary motor, type 5A, Inborn genetic diseases | Benign/Likely benign
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:30634630
- GRCh38:
- Chr7:30595014
| GARS1 | | Distal spinal muscular atrophy, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2,
Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D, not specified,
Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:30673401
- GRCh38:
- Chr7:30633785
| GARS1 | | Distal spinal muscular atrophy, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2,
not specified, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A
| Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:30671087
- GRCh38:
- Chr7:30631471
| GARS1 | | Distal 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 |
| - GRCh37:
- Chr7:30662087
- GRCh38:
- Chr7:30622471
| GARS1 | | Distal 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 |
| - GRCh37:
- Chr7:30655542
- GRCh38:
- Chr7:30615926
| GARS1 | | Distal 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 |
| - GRCh37:
- Chr7:30634764
- GRCh38:
- Chr7:30595148
| GARS1 | | Distal spinal muscular atrophy, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2,
Neuronopathy, distal hereditary motor, type 5A, Charcot-Marie-Tooth disease type 2D, not specified,
Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:30651723
- GRCh38:
- Chr7:30612107
| GARS1 | P244L, P298L | Charcot-Marie-Tooth disease type 2D | Pathogenic
(May 1, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr7:30665896
- GRCh38:
- Chr7:30626280
| GARS1 | D500N, D554N | Distal 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 |
| - GRCh37:
- Chr7:30668214
- GRCh38:
- Chr7:30628598
| GARS1 | G526R, G580R | Charcot-Marie-Tooth disease type 2 | Pathogenic
(Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:30639612
- GRCh38:
- Chr7:30599996
| GARS1 | E71G, E125G | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor, type 5A
| Conflicting interpretations of pathogenicity
(Nov 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr7:30649345
- GRCh38:
- Chr7:30609729
| GARS1 | G240R, G294R | Charcot-Marie-Tooth disease type 2, not provided | Pathogenic
(Sep 26, 2022) | criteria provided, multiple submitters, no conflicts |