| - GRCh37:
- ChrX:70444012
- GRCh38:
- ChrX:71224162
| GJB1 | V152A | Charcot-Marie-Tooth disease X-linked dominant 1 | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:70443961-70443962
- GRCh38:
- ChrX:71224111-71224112
| GJB1 | I137fs | Charcot-Marie-Tooth disease X-linked dominant 1 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- ChrX:70443829
- GRCh38:
- ChrX:71223979
| GJB1 | V91E | Charcot-Marie-Tooth disease X-linked dominant 1 | Likely pathogenic
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70443558
- GRCh38:
- ChrX:71223708
| GJB1 | M1V | Charcot-Marie-Tooth disease X-linked dominant 1 | Likely pathogenic
(Nov 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70443605
- GRCh38:
- ChrX:71223755
| GJB1 | | Charcot-Marie-Tooth disease X-linked dominant 1 | Pathogenic
(Jan 7, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:70443615
- GRCh38:
- ChrX:71223765
| GJB1 | I20F | Charcot-Marie-Tooth disease X-linked dominant 1 | Pathogenic
(Jan 7, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:70443614
- GRCh38:
- ChrX:71223764
| GJB1 | | Charcot-Marie-Tooth disease X-linked dominant 1 | Pathogenic
(Jan 7, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:70443645
- GRCh38:
- ChrX:71223795
| GJB1 | I30F | Charcot-Marie-Tooth disease X-linked dominant 1 | Pathogenic
(Jan 7, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:70443647
- GRCh38:
- ChrX:71223797
| GJB1 | I30M | Charcot-Marie-Tooth disease X-linked dominant 1 | Pathogenic
(Jan 7, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:70443652
- GRCh38:
- ChrX:71223802
| GJB1 | R32K | Charcot-Marie-Tooth disease X-linked dominant 1 | Pathogenic
(Jan 7, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:70443601
- GRCh38:
- ChrX:71223751
| GJB1 | R15P | not provided, Charcot-Marie-Tooth disease X-linked dominant 1 | Likely pathogenic
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70443578
- GRCh38:
- ChrX:71223728
| GJB1 | Y7* | Charcot-Marie-Tooth disease X-linked dominant 1 | Likely pathogenic
(Feb 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70444051
- GRCh38:
- ChrX:71224201
| GJB1 | L165Q | Charcot-Marie-Tooth disease X-linked dominant 1 | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70443952
- GRCh38:
- ChrX:71224102
| GJB1 | W132* | Charcot-Marie-Tooth disease X-linked dominant 1 | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70444153
- GRCh38:
- ChrX:71224303
| GJB1 | G199D | Charcot-Marie-Tooth disease X-linked dominant 1 | Uncertain significance
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70443844
- GRCh38:
- ChrX:71223994
| GJB1 | A96G | Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X | Pathogenic/Likely pathogenic
(Mar 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70443844
- GRCh38:
- ChrX:71223994
| GJB1 | A96V | Charcot-Marie-Tooth disease X-linked dominant 1 | Uncertain significance
(Mar 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70444176
- GRCh38:
- ChrX:71224326
| GJB1 | A207P | Charcot-Marie-Tooth disease X-linked dominant 1 | Uncertain significance
(Dec 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70444077
- GRCh38:
- ChrX:71224227
| GJB1 | P174A | Charcot-Marie-Tooth disease X-linked dominant 1 | Likely pathogenic
(Oct 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70443877
- GRCh38:
- ChrX:71224027
| GJB1 | R107Q | Charcot-Marie-Tooth disease X-linked dominant 1, not provided, Charcot-Marie-Tooth Neuropathy X
| Conflicting interpretations of pathogenicity
(Sep 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:70444203
- GRCh38:
- ChrX:71224353
| GJB1 | A216T | Charcot-Marie-Tooth disease X-linked dominant 1 | Uncertain significance
(Sep 16, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70444262
- GRCh38:
- ChrX:71224412
| GJB1 | F235L | Charcot-Marie-Tooth disease X-linked dominant 1, not specified | Uncertain significance
(May 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70443849
- GRCh38:
- ChrX:71223999
| GJB1 | Q98* | Charcot-Marie-Tooth disease X-linked dominant 1 | Pathogenic
(May 5, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70444024
- GRCh38:
- ChrX:71224174
| GJB1 | L156H | Charcot-Marie-Tooth disease X-linked dominant 1 | Likely pathogenic
(Aug 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70443067
- GRCh38:
- ChrX:71223217
| GJB1 | | Charcot-Marie-Tooth disease X-linked dominant 1 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- ChrX:70444852
- GRCh38:
- ChrX:71225002
| GJB1 | | Charcot-Marie-Tooth disease X-linked dominant 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70444811
- GRCh38:
- ChrX:71224961
| GJB1 | | Charcot-Marie-Tooth disease X-linked dominant 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70444718
- GRCh38:
- ChrX:71224868
| GJB1 | | Charcot-Marie-Tooth disease X-linked dominant 1 | Benign
(Mar 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70444686
- GRCh38:
- ChrX:71224836
| GJB1 | | Charcot-Marie-Tooth disease X-linked dominant 1 | Uncertain significance
(Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70444459
- GRCh38:
- ChrX:71224609
| GJB1 | | Charcot-Marie-Tooth disease X-linked dominant 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70444431
- GRCh38:
- ChrX:71224581
| GJB1 | | Charcot-Marie-Tooth disease X-linked dominant 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70443100
- GRCh38:
- ChrX:71223250
| GJB1 | | Charcot-Marie-Tooth disease X-linked dominant 1 | Uncertain significance
(Mar 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70443599
- GRCh38:
- ChrX:71223749
| GJB1 | N14K | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1 | Likely pathogenic
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70443943
- GRCh38:
- ChrX:71224093
| GJB1 | G129E | not provided, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1,
Cerebellar ataxia | Conflicting interpretations of pathogenicity
(Jul 20, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:70444339-70444340
- GRCh38:
- ChrX:71224489-71224490
| GJB1 | I262fs | Charcot-Marie-Tooth disease X-linked dominant 1 | Pathogenic
(Jan 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70444023-70444024
- GRCh38:
- ChrX:71224173-71224174
| GJB1 | Y157fs | Charcot-Marie-Tooth disease X-linked dominant 1 | Pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr22:50895085
- GRCh38:
- Chr22:50456656
| SBF1 | R1283W, R1308W | Charcot-Marie-Tooth disease type 4B3, not provided, Charcot-Marie-Tooth disease X-linked dominant 1
| Conflicting interpretations of pathogenicity
(Feb 21, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:70444228
- GRCh38:
- ChrX:71224378
| GJB1 | R224H | Inborn genetic diseases, Charcot-Marie-Tooth Neuropathy X, not provided,
Charcot-Marie-Tooth disease X-linked dominant 1 | Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70443675
- GRCh38:
- ChrX:71223825
| GJB1 | A40S | Charcot-Marie-Tooth disease X-linked dominant 1 | Likely pathogenic
(Feb 28, 2019) | no assertion criteria provided |
| - GRCh37:
- ChrX:70444065
- GRCh38:
- ChrX:71224215
| GJB1 | V170I | Charcot-Marie-Tooth disease X-linked dominant 1 | Uncertain significance
(Sep 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70444095
- GRCh38:
- ChrX:71224245
| GJB1 | F180L | Charcot-Marie-Tooth disease X-linked dominant 1 | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70443813
- GRCh38:
- ChrX:71223963
| GJB1 | T86A | Charcot-Marie-Tooth disease X-linked dominant 1 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- ChrX:70444149
- GRCh38:
- ChrX:71224299
| GJB1 | S198A | Charcot-Marie-Tooth disease X-linked dominant 1 | Likely pathogenic
(Oct 29, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70444105
- GRCh38:
- ChrX:71224255
| GJB1 | R183P | Charcot-Marie-Tooth disease X-linked dominant 1 | Likely pathogenic
(Nov 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70443604
- GRCh38:
- ChrX:71223754
| GJB1 | H16L | Charcot-Marie-Tooth disease X-linked dominant 1 | Pathogenic
(Dec 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70443970
- GRCh38:
- ChrX:71224120
| GJB1 | S138N | Charcot-Marie-Tooth disease X-linked dominant 1 | Uncertain significance
(Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70444150
- GRCh38:
- ChrX:71224300
| GJB1 | S198F | Charcot-Marie-Tooth disease X-linked dominant 1 | Likely pathogenic
(Dec 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70443967
- GRCh38:
- ChrX:71224117
| GJB1 | I137fs | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1 | Conflicting interpretations of pathogenicity
(Oct 1, 1995) | no assertion criteria provided |
| - GRCh37:
- ChrX:70443838
- GRCh38:
- ChrX:71223988
| GJB1 | H94R | Charcot-Marie-Tooth disease X-linked dominant 1 | Pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70443681
- GRCh38:
- ChrX:71223831
| GJB1 | S42C | Charcot-Marie-Tooth disease X-linked dominant 1 | Likely pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70444075
- GRCh38:
- ChrX:71224225
| GJB1 | C173F | Charcot-Marie-Tooth disease X-linked dominant 1 | Pathogenic
(Dec 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70444002
- GRCh38:
- ChrX:71224152
| GJB1 | F149I | Charcot-Marie-Tooth disease X-linked dominant 1 | Likely pathogenic
(Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70443684
- GRCh38:
- ChrX:71223834
| GJB1 | V43M | Charcot-Marie-Tooth disease X-linked dominant 1 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- ChrX:70443630
- GRCh38:
- ChrX:71223780
| GJB1 | L25F | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1 | Conflicting interpretations of pathogenicity
(Nov 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:70443861
- GRCh38:
- ChrX:71224011
| GJB1 | E102* | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1 | Conflicting interpretations of pathogenicity
(Oct 1, 1999) | no assertion criteria provided |
| - GRCh37:
- ChrX:70444071
- GRCh38:
- ChrX:71224221
| GJB1 | P172A | Charcot-Marie-Tooth disease X-linked dominant 1 | Likely pathogenic
(Nov 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70443594
- GRCh38:
- ChrX:71223744
| GJB1 | V13M | Charcot-Marie-Tooth Neuropathy X, Inborn genetic diseases, Charcot-Marie-Tooth disease X-linked dominant 1
| Conflicting interpretations of pathogenicity
(Oct 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:70443951
- GRCh38:
- ChrX:71224101
| GJB1 | W132R | Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease | Conflicting interpretations of pathogenicity
(Feb 11, 2019) | no assertion criteria provided |
| - GRCh37:
- ChrX:70444147
- GRCh38:
- ChrX:71224297
| GJB1 | A197V | Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease | Conflicting interpretations of pathogenicity
(Feb 11, 2019) | no assertion criteria provided |
| - GRCh37:
- ChrX:70444141
- GRCh38:
- ChrX:71224291
| GJB1 | L195P | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1 | Conflicting interpretations of pathogenicity
(Sep 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:70443949
- GRCh38:
- ChrX:71224099
| GJB1 | L131P | Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X | Likely pathogenic
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:23942624
- GRCh38:
- Chr13:23368485
| SACS | R88* | Spastic paraplegia, not provided, Charlevoix-Saguenay spastic ataxia
| Pathogenic
(Mar 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70444227
- GRCh38:
- ChrX:71224377
| GJB1 | R224C | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1 | Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70444048
- GRCh38:
- ChrX:71224198
| GJB1 | R164Q | Inborn genetic diseases, Charcot-Marie-Tooth Neuropathy X, not provided,
Peripheral neuropathy, Charcot-Marie-Tooth disease X-linked dominant 1 | Pathogenic/Likely pathogenic
(Jul 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70443951-70443952
- GRCh38:
- ChrX:71224099-71224100
| GJB1 | W132fs | Inborn genetic diseases, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1
| Pathogenic
(Dec 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70444122
- GRCh38:
- ChrX:71224272
| GJB1 | V189I | Charcot-Marie-Tooth Neuropathy X, Inborn genetic diseases, Charcot-Marie-Tooth disease X-linked dominant 1
| Conflicting interpretations of pathogenicity
(Jul 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:70444018
- GRCh38:
- ChrX:71224168
| GJB1 | Y154C | Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X | Uncertain significance
(Sep 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70443861-70443863
- GRCh38:
- ChrX:71224011-71224013
| GJB1 | E102del | Charcot-Marie-Tooth Neuropathy X | Pathogenic
(Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70443712-70443713
- GRCh38:
- ChrX:71223862-71223863
| GJB1 | | Charcot-Marie-Tooth Neuropathy X | Uncertain significance
(Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70443621
- GRCh38:
- ChrX:71223771
| GJB1 | R22* | Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X,
not provided, Inborn genetic diseases | Pathogenic
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70444105
- GRCh38:
- ChrX:71224255
| GJB1 | R183H | not provided, Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X,
Inborn genetic diseases | Pathogenic
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70443622
- GRCh38:
- ChrX:71223772
| GJB1 | R22Q | Inborn genetic diseases, Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X,
not provided | Pathogenic/Likely pathogenic
(Sep 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70444424
- GRCh38:
- ChrX:71224574
| GJB1 | | not specified, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1
| Conflicting interpretations of pathogenicity
(Sep 1, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:70444059
- GRCh38:
- ChrX:71224209
| GJB1 | C168G | Charcot-Marie-Tooth disease X-linked dominant 1, Pes cavus, Hammertoe,
Distal muscle weakness, Decreased nerve conduction velocity, Sensory neuropathy
| Likely pathogenic
(Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70444572
- GRCh38:
- ChrX:71224722
| GJB1 | | Charcot-Marie-Tooth disease X-linked dominant 1, not provided | Benign
(Jul 10, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70444526
- GRCh38:
- ChrX:71224676
| GJB1 | | not provided, Charcot-Marie-Tooth disease X-linked dominant 1 | Benign
(Jun 26, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70444443
- GRCh38:
- ChrX:71224593
| GJB1 | | Charcot-Marie-Tooth disease X-linked dominant 1, not provided | Benign
(Jun 16, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70444064
- GRCh38:
- ChrX:71224214
| GJB1 | | Charcot-Marie-Tooth Neuropathy X, not provided, Charcot-Marie-Tooth disease,
Charcot-Marie-Tooth disease X-linked dominant 1 | Benign/Likely benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70444020
- GRCh38:
- ChrX:71224170
| GJB1 | L155M | Charcot-Marie-Tooth disease X-linked dominant 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70443552
- GRCh38:
- ChrX:71223702
| GJB1 | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease X-linked dominant 1, not provided
| Benign/Likely benign
(Aug 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70443074
- GRCh38:
- ChrX:71223224
| GJB1 | | Charcot-Marie-Tooth disease X-linked dominant 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70444200
- GRCh38:
- ChrX:71224350
| GJB1 | R215W | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1, not provided
| Pathogenic/Likely pathogenic
(Sep 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70443185
- GRCh38:
- ChrX:71223335
| GJB1 | | Charcot-Marie-Tooth Neuropathy X, not provided, Charcot-Marie-Tooth disease X-linked dominant 1
| Pathogenic/Likely pathogenic
(Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70444098
- GRCh38:
- ChrX:71224248
| GJB1 | V181M | Charcot-Marie-Tooth Neuropathy X, not provided, Charcot-Marie-Tooth disease X-linked dominant 1
| Pathogenic
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70443540
- GRCh38:
- ChrX:71223690
| GJB1 | | Charcot-Marie-Tooth disease X-linked dominant 1 | Likely pathogenic
(Aug 18, 2015) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70443792
- GRCh38:
- ChrX:71223942
| GJB1 | | Inborn genetic diseases, not specified, not provided,
Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70444201
- GRCh38:
- ChrX:71224351
| GJB1 | R215P | not provided, Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X
| Pathogenic/Likely pathogenic
(Dec 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:220146784
- GRCh38:
- Chr2:219282062
| DNAJB2 | | not provided, Young adult-onset distal hereditary motor neuropathy, Charcot-Marie-Tooth disease X-linked dominant 1,
DNAJB2-related condition, Inborn genetic diseases | Pathogenic
(Sep 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70444047
- GRCh38:
- ChrX:71224197
| GJB1 | R164W | Charcot-Marie-Tooth Neuropathy X, not provided, Charcot-Marie-Tooth disease X-linked dominant 1
| Pathogenic
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70443876
- GRCh38:
- ChrX:71224026
| GJB1 | R107W | Charcot-Marie-Tooth Neuropathy X, not provided, Charcot-Marie-Tooth disease X-linked dominant 1
| Pathogenic
(Jul 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70443781
- GRCh38:
- ChrX:71223931
| GJB1 | R75Q | not provided, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1
| Pathogenic
(Aug 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70443099
- GRCh38:
- ChrX:71223249
| GJB1 | | not provided, Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1
| Pathogenic/Likely pathogenic
(Oct 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70444104
- GRCh38:
- ChrX:71224254
| GJB1 | R183C | Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X, not provided
| Pathogenic/Likely pathogenic
(May 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70443640
- GRCh38:
- ChrX:71223790
| GJB1 | I28N | Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1, Inborn genetic diseases,
Charcot-Marie-Tooth disease | Conflicting interpretations of pathogenicity
(Aug 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:70443828
- GRCh38:
- ChrX:71223978
| GJB1 | V91M | Charcot-Marie-Tooth Neuropathy X, not provided, Charcot-Marie-Tooth disease X-linked dominant 1
| Pathogenic/Likely pathogenic
(Oct 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70443982
- GRCh38:
- ChrX:71224132
| GJB1 | R142Q | Inborn genetic diseases, Charcot-Marie-Tooth Neuropathy X, D-2-hydroxyglutaric aciduria 1,
not provided, Charcot-Marie-Tooth disease X-linked dominant 1 | Conflicting interpretations of pathogenicity
(Dec 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:70444245
- GRCh38:
- ChrX:71224395
| GJB1 | R230C | Charcot-Marie-Tooth Neuropathy X, Inborn genetic diseases, not specified,
Charcot-Marie-Tooth disease X-linked dominant 1 | Benign/Likely benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70444347
- GRCh38:
- ChrX:71224497
| GJB1 | R264C | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X, not provided,
Charcot-Marie-Tooth disease X-linked dominant 1 | Conflicting interpretations of pathogenicity
(Sep 5, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:70443634
- GRCh38:
- ChrX:71223784
| GJB1 | S26L | Charcot-Marie-Tooth Neuropathy X, not provided, Charcot-Marie-Tooth disease X-linked dominant 1
| Pathogenic
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:70444137
- GRCh38:
- ChrX:71224287
| GJB1 | M194V | Charcot-Marie-Tooth Neuropathy X | Pathogenic
(Dec 30, 2021) | criteria provided, single submitter |