| - GRCh37:
- Chr10:64573486-64573487
- GRCh38:
- Chr10:62813726-62813727
| EGR2 | | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 4E | Uncertain significance
(Aug 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:64573314
- GRCh38:
- Chr10:62813554
| EGR2 | R362*, R312* | Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 1D, Dejerine-Sottas disease
| Uncertain significance
(Mar 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161276549
- GRCh38:
- Chr1:161306759
| MPZ | P133T | Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease type 2J, Roussy-Lévy syndrome,
Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D, Dejerine-Sottas disease,
Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease, type I | Pathogenic/Likely pathogenic
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161255241-161276497
| MPZ | | Charcot-Marie-Tooth disease type 4E | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:161284158
- GRCh38:
- Chr1:161314368
| MPZ, SDHC | | Paragangliomas 3, Gastrointestinal stroma tumor, not provided,
Hereditary cancer-predisposing syndrome, not specified, Charcot-Marie-Tooth disease type 4E,
Hereditary pheochromocytoma-paraganglioma, Roussy-Lévy syndrome, Pheochromocytoma,
Paragangliomas 3, Charcot-Marie-Tooth, IntermediateCharcot-Marie-Tooth disease, type I,
Paragangliomas 3, Gastrointestinal stroma tumor, Carney-Stratakis syndrome,
...see more | Benign
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161279744
- GRCh38:
- Chr1:161309954
| MPZ | | Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease dominant intermediate D,
Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:161277205
- GRCh38:
- Chr1:161307415
| MPZ | P26L | Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease dominant intermediate D,
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1B,
Roussy-Lévy syndrome | Conflicting interpretations of pathogenicity
(Apr 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:161276199
- GRCh38:
- Chr1:161306409
| MPZ | | not specified, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, type I,
not provided, Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease type 1B,
Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 4E, Roussy-Lévy syndrome
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161276188
- GRCh38:
- Chr1:161306398
| MPZ | L172P | Charcot-Marie-Tooth, Intermediate, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease, type I,
Roussy-Lévy syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161275614
- GRCh38:
- Chr1:161305824
| MPZ | G267S | Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease dominant intermediate D,
Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:161275471
- GRCh38:
- Chr1:161305681
| MPZ | | Roussy-Lévy syndrome, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 1B,
Charcot-Marie-Tooth disease dominant intermediate D, Neuropathy, congenital hypomyelinating, 2, not provided
| Conflicting interpretations of pathogenicity
(Oct 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:161275415
- GRCh38:
- Chr1:161305625
| MPZ | | Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease dominant intermediate D,
Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161275098
- GRCh38:
- Chr1:161305308
| MPZ | | Neuropathy, congenital hypomyelinating, 2, not provided, Charcot-Marie-Tooth disease type 4E,
Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome
| Benign/Likely benign
(May 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161275042
- GRCh38:
- Chr1:161305252
| MPZ | | Neuropathy, congenital hypomyelinating, 2, not provided, Charcot-Marie-Tooth disease type 4E,
Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome
| Benign/Likely benign
(May 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161274985
- GRCh38:
- Chr1:161305195
| MPZ | | Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease dominant intermediate D,
Roussy-Lévy syndrome, Charcot-Marie-Tooth disease type 1B | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161274923
- GRCh38:
- Chr1:161305133
| MPZ | | Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 1B,
Charcot-Marie-Tooth disease dominant intermediate D, Roussy-Lévy syndrome | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:161274905
- GRCh38:
- Chr1:161305115
| MPZ | | Neuropathy, congenital hypomyelinating, 2, not provided, Charcot-Marie-Tooth disease type 4E,
Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D, Roussy-Lévy syndrome
| Benign
(May 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161274808
- GRCh38:
- Chr1:161305018
| MPZ | | Charcot-Marie-Tooth, Intermediate, Charcot-Marie-Tooth disease type 4E, Roussy-Lévy syndrome,
Charcot-Marie-Tooth disease, type I | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161274755-161274756
- GRCh38:
- Chr1:161304965-161304966
| MPZ | | Charcot-Marie-Tooth, Intermediate, not provided, Charcot-Marie-Tooth disease type 4E,
Charcot-Marie-Tooth disease, type I, Roussy-Lévy syndrome | Benign
(May 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161274712
- GRCh38:
- Chr1:161304922
| MPZ | | Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease dominant intermediate D,
Roussy-Lévy syndrome, Charcot-Marie-Tooth disease type 1B | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161274646
- GRCh38:
- Chr1:161304856
| MPZ | | Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease dominant intermediate D,
Roussy-Lévy syndrome, Charcot-Marie-Tooth disease type 1B | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161274618
- GRCh38:
- Chr1:161304828
| MPZ | | not provided, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 1B,
Roussy-Lévy syndrome, Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease dominant intermediate D
| Conflicting interpretations of pathogenicity
(May 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:161274592
- GRCh38:
- Chr1:161304802
| MPZ | | Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease dominant intermediate D,
Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:64573771
- GRCh38:
- Chr10:62814011
| EGR2 | | Charcot-Marie-Tooth disease type 4E, Dejerine-Sottas disease, Charcot-Marie-Tooth disease, type I,
Charcot-Marie-Tooth disease type 1D, not specified | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161275906
- GRCh38:
- Chr1:161306116
| MPZ | G213R | Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, type I,
Inborn genetic diseases, not provided, not specified,
Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D,
Roussy-Lévy syndrome | Conflicting interpretations of pathogenicity
(Oct 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:161277149
- GRCh38:
- Chr1:161307359
| MPZ | R45W | Charcot-Marie-Tooth disease, type I, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2J,
Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D,
Dejerine-Sottas disease, Roussy-Lévy syndrome, Charcot-Marie-Tooth disease type 4E,
not provided | Conflicting interpretations of pathogenicity
(Oct 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:161276252
- GRCh38:
- Chr1:161306462
| MPZ | P151T | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 2I,
Charcot-Marie-Tooth disease type 2J, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D,
Roussy-Lévy syndrome, Dejerine-Sottas disease, not provided
| Conflicting interpretations of pathogenicity
(Sep 2, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:161275943
- GRCh38:
- Chr1:161306153
| MPZ | | Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 2J,
Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease type 1B, not specified,
Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D,
Roussy-Lévy syndrome | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161275729
- GRCh38:
- Chr1:161305939
| MPZ | | Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, type I,
not specified, not provided, Charcot-Marie-Tooth disease type 4E,
Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D, Roussy-Lévy syndrome
| Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161284226-161284227
- GRCh38:
- Chr1:161314434-161314435
| MPZ, SDHC | | Charcot-Marie-Tooth, Intermediate, Charcot-Marie-Tooth disease, type I, Paragangliomas 3,
Gastrointestinal stroma tumor, Hereditary cancer-predisposing syndrome, not specified,
not provided, Charcot-Marie-Tooth disease type 4E, Roussy-Lévy syndrome,
Pheochromocytoma | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:64573251
- GRCh38:
- Chr10:62813491
| EGR2 | D383Y, D333Y | Charcot-Marie-Tooth disease type 4E | not provided | no assertion provided |
| - GRCh37:
- Chr10:64573252
- GRCh38:
- Chr10:62813492
| EGR2 | S382R, S332R | Charcot-Marie-Tooth disease type 4E | not provided | no assertion provided |
| - GRCh37:
- Chr10:64573252
- Chr10:64573251
- GRCh38:
- Chr10:62813492
- Chr10:62813491
| EGR2, EGR2 | S382R, S332R, D383Y, D333Y | Congenital hypomyelinating neuropathy 1, autosomal dominant | Pathogenic
(Nov 27, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr10:64573595
- GRCh38:
- Chr10:62813835
| EGR2 | I268N, I218N | Charcot-Marie-Tooth disease type 4E | Pathogenic
(Nov 1, 2007) | no assertion criteria provided |
| - GRCh37:
- Chr1:161276512
- GRCh38:
- Chr1:161306722
| MPZ | Y145S | MPZ-related condition, Charcot-Marie-Tooth disease type 4E, Roussy-Lévy syndrome,
Charcot-Marie-Tooth disease type 2J, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease type 2I,
Dejerine-Sottas disease, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease, type I,
not provided | Pathogenic
(Mar 29, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161276575
- GRCh38:
- Chr1:161306785
| MPZ | T124M | Inborn genetic diseases, Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease dominant intermediate D,
Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease type 4E,
Dejerine-Sottas disease, Roussy-Lévy syndrome, Charcot-Marie-Tooth disease type 2J,
not provided, Charcot-Marie-Tooth disease dominant intermediate D ...see more | Pathogenic
(Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161276204
- GRCh38:
- Chr1:161306414
| MPZ | G167R | Charcot-Marie-Tooth disease dominant intermediate D, Dejerine-Sottas disease, Charcot-Marie-Tooth disease type 2I,
Charcot-Marie-Tooth disease type 2J, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease type 4E,
Roussy-Lévy syndrome, Charcot-Marie-Tooth disease, type I | Pathogenic
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |