| - GRCh37:
- Chr1:161276684
- GRCh38:
- Chr1:161306894
| MPZ | Y88N | Charcot-Marie-Tooth disease type 1B | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:161276240
- GRCh38:
- Chr1:161306450
| MPZ | G155R | 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 | Uncertain significance
(Jan 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161277070
- GRCh38:
- Chr1:161307280
| MPZ | E71G | Charcot-Marie-Tooth disease type 1B | Uncertain significance
(Mar 31, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr1:161275960
- GRCh38:
- Chr1:161306170
| MPZ | | Charcot-Marie-Tooth disease type 1B | Likely pathogenic
(Nov 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161276545
- GRCh38:
- Chr1:161306755
| MPZ | D134V | Charcot-Marie-Tooth disease type 1B | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161276256
- GRCh38:
- Chr1:161306466
| MPZ | | Charcot-Marie-Tooth disease type 1B | Likely pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161276669
- GRCh38:
- Chr1:161306879
| MPZ | G93R | Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease, type I | Likely pathogenic
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161276643
- GRCh38:
- Chr1:161306853
| MPZ | W101C | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1B | Likely pathogenic
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161275306
- GRCh38:
- Chr1:161305516
| MPZ | | Neuropathy, congenital hypomyelinating, 2, not provided, Charcot-Marie-Tooth disease dominant intermediate D,
Charcot-Marie-Tooth disease type 1B, Roussy-Lévy syndrome | Conflicting interpretations of pathogenicity
(Aug 24, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:161275297
- GRCh38:
- Chr1:161305507
| MPZ | | Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 1B,
Roussy-Lévy syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161274914
- GRCh38:
- Chr1:161305124
| MPZ | | Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 1B,
Roussy-Lévy syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161274763
- GRCh38:
- Chr1:161304973
| MPZ | | Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D,
Roussy-Lévy syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161277098
- GRCh38:
- Chr1:161307308
| MPZ | I62V | Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 1B,
Roussy-Lévy syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161275231
- GRCh38:
- Chr1:161305441
| MPZ | | Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 1B,
Roussy-Lévy syndrome | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161275144
- GRCh38:
- Chr1:161305354
| MPZ | | Neuropathy, congenital hypomyelinating, 2, 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:
- Chr1:161275564
- GRCh38:
- Chr1:161305774
| MPZ | | Roussy-Lévy syndrome, Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease dominant intermediate D,
Charcot-Marie-Tooth disease type 1B | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161275325
- GRCh38:
- Chr1:161305535
| MPZ | | Roussy-Lévy syndrome, Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease dominant intermediate D,
Charcot-Marie-Tooth disease type 1B | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161276502
- GRCh38:
- Chr1:161306712
| MPZ | E148D | Roussy-Lévy syndrome, Neuropathy, congenital hypomyelinating, 2, Charcot-Marie-Tooth disease dominant intermediate D,
Charcot-Marie-Tooth disease type 1B | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161276543
- GRCh38:
- Chr1:161306753
| MPZ | I135L | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1B | Likely pathogenic
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161276584
- GRCh38:
- Chr1:161306794
| MPZ | D121G | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1B | Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161277088
- GRCh38:
- Chr1:161307298
| MPZ | T65N | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1B | Pathogenic/Likely pathogenic
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161276263
- GRCh38:
- Chr1:161306473
| MPZ | | Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease, type I | Likely benign
(Jan 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161277090-161277092
- GRCh38:
- Chr1:161307300-161307302
| MPZ | F64del | Charcot-Marie-Tooth disease type 1B | Likely pathogenic
(Jan 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161277181
- GRCh38:
- Chr1:161307391
| MPZ | T34I | Charcot-Marie-Tooth disease type 1B | Likely pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148408235
- GRCh38:
- Chr5:149028672
| SH3TC2 | | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 1B
| Conflicting interpretations of pathogenicity
(Dec 23, 2022) | criteria provided, conflicting interpretations |
|
| | | Variegate porphyria, Paragangliomas 3, Charcot-Marie-Tooth disease type 1B,
Migraine, familial hemiplegic, 2 | Pathogenic
(Apr 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161276518
- GRCh38:
- Chr1:161306728
| MPZ | T143M | Neuropathy, congenital hypomyelinating, 2, Inborn genetic diseases, not provided,
Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D,
Roussy-Lévy syndrome | Uncertain significance
(Aug 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161275751
- GRCh38:
- Chr1:161305961
| MPZ | A221V | Charcot-Marie-Tooth disease, type I | Uncertain significance
(Aug 31, 2021) | 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:
- Chr1:161276546
- GRCh38:
- Chr1:161306756
| MPZ | D134N | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1B, not provided
| Conflicting interpretations of pathogenicity
(Jun 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:161275705-161275707
- GRCh38:
- Chr1:161305915-161305917
| MPZ | K236del | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, type I, Inborn genetic diseases,
Charcot-Marie-Tooth disease type 2I, not provided | Conflicting interpretations of pathogenicity
(Jan 9, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:161276645
- GRCh38:
- Chr1:161306855
| MPZ | W101R | Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease, type I | Likely pathogenic
(Aug 31, 2021) | 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:
- Chr1:161275614
- 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:
- Chr1:161274712
- 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:
- 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:
- Chr1:161277092-161277094
- GRCh38:
- Chr1:161307302-161307304
| MPZ | S63del | Charcot-Marie-Tooth disease, type I, not provided | Pathogenic
(Nov 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161276117
- GRCh38:
- Chr1:161306327
| MPZ | | not provided | Pathogenic
(Nov 19, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161276543
- GRCh38:
- Chr1:161306753
| MPZ | I135L | Charcot-Marie-Tooth disease type 1B | Pathogenic
(Aug 18, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161279434-161299373
- GRCh38:
- Chr1:161309667-161329606
| MPZ, SDHC | | Charcot-Marie-Tooth disease type 1B | Likely pathogenic
(Sep 17, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161275597-161275598
- GRCh38:
- Chr1:161305807-161305808
| MPZ | | Charcot-Marie-Tooth disease type 1B | Likely pathogenic
(Sep 17, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161277082
- GRCh38:
- Chr1:161307292
| MPZ | R67H | 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,
not specified, Roussy-Lévy syndrome, Inborn genetic diseases
| Conflicting interpretations of pathogenicity
(Oct 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:161275763-161275777
- GRCh38:
- Chr1:161305973-161305987
| MPZ | | Charcot-Marie-Tooth disease type 1B | Pathogenic
(Aug 7, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161276536
- GRCh38:
- Chr1:161306746
| MPZ | G137D | Charcot-Marie-Tooth disease type 1B | Pathogenic
(Sep 3, 2015) | criteria provided, single submitter |
| - 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 |
| | MPZ | | Charcot-Marie-Tooth disease type 1B | Pathogenic
(Dec 18, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr1:161276204
- GRCh38:
- Chr1:161306414
| MPZ | G167R | Charcot-Marie-Tooth disease, type I | Pathogenic
(Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161276216
- GRCh38:
- Chr1:161306426
| MPZ | G163R | Charcot-Marie-Tooth disease, type I | Pathogenic
(Sep 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161276705
- Chr1:161276609
- GRCh38:
- Chr1:161306915
- Chr1:161306819
| MPZ, MPZ | H81Y, V113F | Charcot-Marie-Tooth disease type 1B | Pathogenic
(Mar 26, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr1:161277101
- GRCh38:
- Chr1:161307311
| MPZ | D61N | Charcot-Marie-Tooth disease, type I, not provided | Pathogenic
(Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - 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:
- Chr1:161275764
- GRCh38:
- Chr1:161305974
| MPZ | P217S | Charcot-Marie-Tooth disease | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr1:161275897
- GRCh38:
- Chr1:161306107
| MPZ | | Charcot-Marie-Tooth disease | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr1:161276599
- GRCh38:
- Chr1:161306809
| MPZ | N116S | Inborn genetic diseases, Charcot-Marie-Tooth disease, type I, not provided,
Charcot-Marie-Tooth disease type 2I | Uncertain significance
(Oct 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161277118
- GRCh38:
- Chr1:161307328
| MPZ | S55I | Charcot-Marie-Tooth disease | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr1:161275743
- GRCh38:
- Chr1:161305953
| MPZ | D224Y | Inborn genetic diseases, Charcot-Marie-Tooth disease, type I | Pathogenic/Likely pathogenic
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161275954-161275955
- GRCh38:
- Chr1:161306164-161306165
| MPZ | M197fs | Charcot-Marie-Tooth disease type 1B | not provided | no assertion provided |
| - GRCh37:
- Chr1:161276216
- GRCh38:
- Chr1:161306426
| MPZ | G163R | Inborn genetic diseases, Charcot-Marie-Tooth disease, type I, not provided
| Pathogenic/Likely pathogenic
(Oct 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161276557
- GRCh38:
- Chr1:161306767
| MPZ | K130R | Charcot-Marie-Tooth disease, type I, not provided, Charcot-Marie-Tooth disease type 1B
| Conflicting interpretations of pathogenicity
(Aug 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:161276609
- GRCh38:
- Chr1:161306819
| MPZ | V113F | Charcot-Marie-Tooth disease, type I, not provided | Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161276640
- GRCh38:
- Chr1:161306850
| MPZ | D104fs | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease dominant intermediate D | Pathogenic/Likely pathogenic
(Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161276680
- GRCh38:
- Chr1:161306890
| MPZ | I89T | Charcot-Marie-Tooth disease type 1B | not provided | no assertion provided |
| - GRCh37:
- Chr1:161276702
- GRCh38:
- Chr1:161306912
| MPZ | Y82H | Charcot-Marie-Tooth disease, type I, not provided, Charcot-Marie-Tooth disease type 2I,
Charcot-Marie-Tooth disease dominant intermediate D | Pathogenic/Likely pathogenic
(Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161276705
- GRCh38:
- Chr1:161306915
| MPZ | H81Y | Charcot-Marie-Tooth disease | Uncertain significance
(Aug 14, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr1:161277107
- GRCh38:
- Chr1:161307317
| MPZ | S59T | Charcot-Marie-Tooth disease type 1B | not provided | no assertion provided |
| - GRCh37:
- Chr1:161277193
- GRCh38:
- Chr1:161307403
| MPZ | I30T | Charcot-Marie-Tooth disease, type I | Likely pathogenic
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161276670
- GRCh38:
- Chr1:161306880
| MPZ | | Charcot-Marie-Tooth disease, type I | Likely pathogenic
(Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161276579
- GRCh38:
- Chr1:161306789
| MPZ | G123S | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1B | Conflicting interpretations of pathogenicity
(Jan 22, 2008) | no assertion criteria provided |
| - GRCh37:
- Chr1:161277104
- GRCh38:
- Chr1:161307314
| MPZ | D60H | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1B | Conflicting interpretations of pathogenicity
(Aug 4, 2022) | criteria provided, conflicting interpretations |
| - 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:
- Chr1:161277049
- GRCh38:
- Chr1:161307259
| MPZ | S78L | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease, not provided,
Charcot-Marie-Tooth disease type 1B | Pathogenic
(Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161276638
- GRCh38:
- Chr1:161306848
| MPZ | G103E | Inborn genetic diseases, Charcot-Marie-Tooth disease, type I, not provided
| Conflicting interpretations of pathogenicity
(Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:161276553
- GRCh38:
- Chr1:161306763
| MPZ | N131K | Charcot-Marie-Tooth disease, type I, not provided | Pathogenic
(Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161277151
- GRCh38:
- Chr1:161307361
| MPZ | S44F | Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, type I,
not provided | Pathogenic
(Jul 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161277058
- GRCh38:
- Chr1:161307268
| MPZ | D75V | Charcot-Marie-Tooth disease, type I | Pathogenic
(Aug 30, 2021) | criteria provided, single submitter |
| - 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:
- Chr1:161276704
- GRCh38:
- Chr1:161306914
| MPZ | H81R | Charcot-Marie-Tooth disease, type I, not provided | Pathogenic
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161277094
- GRCh38:
- Chr1:161307304
| MPZ | S63F | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, type I | Pathogenic/Likely pathogenic
(Aug 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161276653
- GRCh38:
- Chr1:161306863
| MPZ | R98H | MPZ-related condition, Inborn genetic diseases, Charcot-Marie-Tooth disease,
Charcot-Marie-Tooth disease, type I, not provided, Charcot-Marie-Tooth disease type 1B,
Distal lower limb amyotrophy, Pes cavus, Decreased nerve conduction velocity,
Sensory neuropathy, Distal muscle weakness ...see more | Pathogenic/Likely pathogenic
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161276654
- GRCh38:
- Chr1:161306864
| MPZ | R98C | not provided, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease, type I
| Pathogenic
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161276653
- GRCh38:
- Chr1:161306863
| MPZ | R98P | Inborn genetic diseases, Charcot-Marie-Tooth disease, type I, not provided
| Pathogenic/Likely pathogenic
(Jul 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161276537
- GRCh38:
- Chr1:161306747
| MPZ | G137S | Charcot-Marie-Tooth disease, type I, not provided | Likely pathogenic
(Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161276542
- GRCh38:
- Chr1:161306752
| MPZ | I135T | not provided, Dejerine-Sottas disease | Pathogenic/Likely pathogenic
(Jan 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161275766-161275774
- GRCh38:
- Chr1:161305976-161305984
| MPZ | | Charcot-Marie-Tooth disease type 1B | Pathogenic
(Nov 15, 1993) | no assertion criteria provided |
| - 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 |
| - GRCh37:
- Chr1:161276676
- GRCh38:
- Chr1:161306886
| MPZ | D90E | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1B | Pathogenic
(Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |