| - GRCh37:
- Chr10:64573104
- GRCh38:
- Chr10:62813344
| EGR2 | S382T, S432T, S445T | Dejerine-Sottas disease | Uncertain significance
(Feb 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:15134279-15134299
- GRCh38:
- Chr17:15230962-15230982
| PMP22 | | Dejerine-Sottas disease | Uncertain significance
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40900016
- GRCh38:
- Chr19:40394109
| PRX | V1415M, V1510M | Dejerine-Sottas disease | Uncertain significance
(Nov 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:15164011
- GRCh38:
- Chr17:15260694
| PMP22 | H12Y | Dejerine-Sottas disease | Likely pathogenic
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40902701-40902707
- GRCh38:
- Chr19:40396794-40396800
| PRX | P518fs | Dejerine-Sottas disease | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:64573246
- GRCh38:
- Chr10:62813486
| EGR2 | H334Q, H384Q | Dejerine-Sottas disease | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:64573166
- GRCh38:
- Chr10:62813406
| EGR2 | D361G, D411G | Dejerine-Sottas disease | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr19:40901469
- GRCh38:
- Chr19:40395562
| PRX | K930N | Dejerine-Sottas disease, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4,
Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Mar 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40899929
- GRCh38:
- Chr19:40394022
| PRX | E1444Q | Dejerine-Sottas disease | Uncertain significance
(Dec 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161277048
- GRCh38:
- Chr1:161307258
| MPZ | | Charcot-Marie-Tooth disease, type I, Inborn genetic diseases, Dejerine-Sottas disease
| Conflicting interpretations of pathogenicity
(Oct 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:64574018
- GRCh38:
- Chr10:62814258
| EGR2 | P127L, P77L | Dejerine-Sottas disease, Charcot-Marie-Tooth disease type 1D | Uncertain significance
(Apr 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70443801
- GRCh38:
- ChrX:71223951
| GJB1 | I82V | Dejerine-Sottas disease | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr1:161276178-161276181
- GRCh38:
- Chr1:161306388-161306391
| MPZ | L175fs | Dejerine-Sottas disease | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:15142868
- GRCh38:
- Chr17:15239551
| PMP22 | L80P | Dejerine-Sottas disease | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:15142880
- GRCh38:
- Chr17:15239563
| PMP22 | S76I | Dejerine-Sottas disease | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:15142892
- GRCh38:
- Chr17:15239575
| PMP22 | S72W | Charcot-Marie-Tooth disease, type I, not provided | Pathogenic/Likely pathogenic
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:15142854-15142856
- GRCh38:
- Chr17:15239537-15239539
| PMP22 | F84del | not provided, Charcot-Marie-Tooth disease, type I | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:15142868
- GRCh38:
- Chr17:15239551
| PMP22 | L80R | Dejerine-Sottas disease | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:15142872
- GRCh38:
- Chr17:15239555
| PMP22 | S79P | Dejerine-Sottas disease | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:15142809
- GRCh38:
- Chr17:15239492
| PMP22 | G100R | Dejerine-Sottas disease | Pathogenic
(Oct 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:15142895
- GRCh38:
- Chr17:15239578
| PMP22 | L71P | Dejerine-Sottas disease | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr1:161276569-161276574
- GRCh38:
- Chr1:161306779-161306784
| MPZ | | Dejerine-Sottas disease | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr1:161275750-161275751
- GRCh38:
- Chr1:161305960-161305961
| MPZ | M222fs | Dejerine-Sottas disease | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr1:161275752
- GRCh38:
- Chr1:161305962
| MPZ | A221T | Dejerine-Sottas disease | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr1:161276539
- GRCh38:
- Chr1:161306749
| MPZ | V136E | Charcot-Marie-Tooth disease, type I | Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161277157-161277159
- GRCh38:
- Chr1:161307367-161307369
| MPZ | V42del | Dejerine-Sottas disease | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr19:40902224
- GRCh38:
- Chr19:40396317
| PRX | R679* | Dejerine-Sottas disease | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:15168570
- GRCh38:
- Chr17:15265253
| PMP22 | | Guillain-Barre syndrome, familial, Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease, type IA,
Roussy-Lévy syndrome, Dejerine-Sottas disease, Charcot-Marie-Tooth disease type 1E
| Uncertain significance
(Dec 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:15142893
- GRCh38:
- Chr17:15239576
| PMP22 | S72P | Charcot-Marie-Tooth disease, type I | Pathogenic
(Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:15163989
- GRCh38:
- Chr17:15260672
| PMP22 | L19P | Dejerine-Sottas disease | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:15142808
- GRCh38:
- Chr17:15239491
| PMP22 | G100E | Dejerine-Sottas disease | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr1:161276681-161276688
- GRCh38:
- Chr1:161306891-161306898
| MPZ | | Dejerine-Sottas disease | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr1:161276566
- GRCh38:
- Chr1:161306776
| MPZ | C127Y | Charcot-Marie-Tooth disease, type I, Dejerine-Sottas disease | Pathogenic/Likely pathogenic
(Jun 18, 2022) | 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:
- Chr19:40899941
- GRCh38:
- Chr19:40394034
| PRX | V1440M | Dejerine-Sottas disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
| Uncertain significance
(Sep 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:15134355
- GRCh38:
- Chr17:15231038
| PMP22 | H121R | not provided | Uncertain significance
(Feb 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161276535
- GRCh38:
- Chr1:161306745
| MPZ | | Charcot-Marie-Tooth disease, type I | Pathogenic
(Oct 14, 2021) | criteria provided, single submitter |
| - 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:
- Chr19:40909717
- GRCh38:
- Chr19:40403810
| LOC130064454, PRX | T27N | Charcot-Marie-Tooth disease type 4F, Dejerine-Sottas disease, not provided,
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40903541
- GRCh38:
- Chr19:40397634
| PRX | R240W | Dejerine-Sottas disease, Charcot-Marie-Tooth disease type 4F, Inborn genetic diseases,
Charcot-Marie-Tooth disease type 4 | Uncertain significance
(Dec 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40899952
- GRCh38:
- Chr19:40394045
| PRX | R1436Q | Charcot-Marie-Tooth disease type 4F, Inborn genetic diseases, Charcot-Marie-Tooth disease,
Charcot-Marie-Tooth disease type 4, not provided, Dejerine-Sottas disease
| Uncertain significance
(Jun 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:15142852
- GRCh38:
- Chr17:15239535
| PMP22 | C85W | Guillain-Barre syndrome, familial, Roussy-Lévy syndrome, Hereditary liability to pressure palsies,
Charcot-Marie-Tooth disease type 1E, Charcot-Marie-Tooth disease, type IA, Dejerine-Sottas disease,
not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease, type I
| Uncertain significance
(Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161276145
- GRCh38:
- Chr1:161306355
| MPZ | R186fs | Neuropathy, congenital hypomyelinating, 2, Dejerine-Sottas disease | Pathogenic
(Oct 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - 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:
- Chr17:15134239
- GRCh38:
- Chr17:15230922
| PMP22 | E160K | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1E, Guillain-Barre syndrome, familial,
Roussy-Lévy syndrome, Dejerine-Sottas disease, Charcot-Marie-Tooth disease, type IA,
Hereditary liability to pressure palsies | Uncertain significance
(Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161276578
- GRCh38:
- Chr1:161306788
| MPZ | G123D | not provided | Likely pathogenic
(Jul 18, 2017) | criteria provided, single submitter |
| - 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:
- Chr19:40903247
- GRCh38:
- Chr19:40397340
| PRX | A338fs | Dejerine-Sottas disease | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr17:15134268
- GRCh38:
- Chr17:15230951
| PMP22 | G150V | Charcot-Marie-Tooth disease, type I | Pathogenic
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:15134321
- GRCh38:
- Chr17:15231004
| PMP22 | | Guillain-Barre syndrome, familial, Charcot-Marie-Tooth disease type 1E, Charcot-Marie-Tooth disease, type IA,
Hereditary liability to pressure palsies, Roussy-Lévy syndrome, Dejerine-Sottas disease,
not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease, type I,
not specified | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40902978
- GRCh38:
- Chr19:40397071
| PRX | | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Dejerine-Sottas disease,
Charcot-Marie-Tooth disease type 4F, not specified, not provided,
Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40902634
- GRCh38:
- Chr19:40396727
| PRX | R542Q | Charcot-Marie-Tooth disease type 4, not provided, Dejerine-Sottas disease,
Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40902295
- GRCh38:
- Chr19:40396388
| PRX | P655L | Charcot-Marie-Tooth disease type 4, Dejerine-Sottas disease, Charcot-Marie-Tooth disease type 4F,
not provided, Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40900215
- GRCh38:
- Chr19:40394308
| PRX | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, not provided,
Dejerine-Sottas disease, Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4F,
Inborn genetic diseases, not specified | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:15162516
- GRCh38:
- Chr17:15259199
| PMP22 | | Guillain-Barre syndrome, familial, Roussy-Lévy syndrome, Dejerine-Sottas disease,
Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease type 1E, Charcot-Marie-Tooth disease, type IA,
not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease,
Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease, type I ...see more | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - 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:
- Chr1:161277149
- 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:
- Chr19:40902713
- GRCh38:
- Chr19:40396806
| PRX | R516W | Inborn genetic diseases, Dejerine-Sottas disease, Charcot-Marie-Tooth disease type 4F,
Charcot-Marie-Tooth disease type 4, not provided, Charcot-Marie-Tooth disease type 4F,
Dejerine-Sottas disease | Uncertain significance
(Mar 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40903085
- GRCh38:
- Chr19:40397178
| PRX | R392* | Charcot-Marie-Tooth disease type 4, not provided | Pathogenic
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40900490
- GRCh38:
- Chr19:40394583
| PRX | G1257R | Inborn genetic diseases, Dejerine-Sottas disease, Charcot-Marie-Tooth disease type 4F,
Charcot-Marie-Tooth disease type 4, not provided | Uncertain significance
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:15134268
- GRCh38:
- Chr17:15230951
| PMP22 | G150D | Charcot-Marie-Tooth disease, type I, not provided | Pathogenic
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:15134270
- GRCh38:
- Chr17:15230953
| PMP22 | S149R | not provided | Pathogenic
(Oct 18, 2016) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70443792
- GRCh38:
- ChrX:71223942
| GJB1 | | Charcot-Marie-Tooth Neuropathy X, Inborn genetic diseases, Charcot-Marie-Tooth disease X-linked dominant 1,
not specified, not provided | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - 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:
- Chr17:15142922
- GRCh38:
- Chr17:15239605
| PMP22 | L62R | Guillain-Barre syndrome, familial, Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease type 1E,
Charcot-Marie-Tooth disease, type IA, Roussy-Lévy syndrome, Dejerine-Sottas disease,
Charcot-Marie-Tooth disease, type I, not specified, not provided
| Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40900865
- GRCh38:
- Chr19:40394958
| PRX | G1132R | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, not specified,
not provided, Dejerine-Sottas disease, Charcot-Marie-Tooth disease type 4F
| Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40901604
- GRCh38:
- Chr19:40395697
| PRX | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, not provided,
Dejerine-Sottas disease, Charcot-Marie-Tooth disease type 4F | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40901614
- GRCh38:
- Chr19:40395707
| PRX | V882A | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, not specified,
not provided, Dejerine-Sottas disease, Charcot-Marie-Tooth disease type 4F
| Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161277193
- GRCh38:
- Chr1:161307403
| MPZ | I30T | Charcot-Marie-Tooth disease, type I | Likely pathogenic
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40904661
- GRCh38:
- Chr19:40398754
| PRX | L83fs | Dejerine-Sottas disease, Autosomal recessive Dejerine-Sottas syndrome | Conflicting interpretations of pathogenicity
(Jun 1, 2002) | no assertion criteria provided |
| - GRCh37:
- Chr10:64573164
- GRCh38:
- Chr10:62813404
| EGR2 | E412K, E362K | Charcot-Marie-Tooth disease, type I | Pathogenic
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:64573323
- GRCh38:
- Chr10:62813563
| EGR2 | R359W, R309W | Charcot-Marie-Tooth disease, type I, not provided, Dejerine-Sottas disease
| Pathogenic
(Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - 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 | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 2I, Dejerine-Sottas disease,
Charcot-Marie-Tooth disease type 2J, Charcot-Marie-Tooth disease type 4E, Roussy-Lévy syndrome,
Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 1B, Inborn genetic diseases,
not provided, Charcot-Marie-Tooth disease dominant intermediate D ...see more | Pathogenic
(Jul 1, 2022) | 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:
- Chr1:161276204
- 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:
- Chr1:161277094
- GRCh38:
- Chr1:161307304
| MPZ | S63C | Charcot-Marie-Tooth disease, type I, not provided | Pathogenic
(Aug 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70443964
- GRCh38:
- ChrX:71224114
| GJB1 | V136A | Charcot-Marie-Tooth disease X-linked dominant 1, Dejerine-Sottas disease | Pathogenic
(Sep 1, 2005) | no assertion criteria provided |
| - GRCh37:
- Chr17:15164009
- GRCh38:
- Chr17:15260692
| PMP22 | H12Q | Inborn genetic diseases, Charcot-Marie-Tooth disease, type I, Roussy-Lévy syndrome
| Pathogenic/Likely pathogenic
(Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40901051
- GRCh38:
- Chr19:40395144
| PRX | R1070* | Charcot-Marie-Tooth disease type 4, Dejerine-Sottas disease, Charcot-Marie-Tooth disease type 4F
| Pathogenic/Likely pathogenic
(Jun 10, 2022) | criteria provided, multiple submitters, no conflicts |