| - GRCh37:
- Chr6:110081546
- GRCh38:
- Chr6:109760343
| FIG4 | I411V | Charcot-Marie-Tooth disease type 4J | Uncertain significance
(Jan 6, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr6:110056359
- GRCh38:
- Chr6:109735156
| FIG4 | S168R | Bilateral parasagittal parieto-occipital polymicrogyria, Yunis-Varon syndrome, Charcot-Marie-Tooth disease type 4J
| Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr6:110048416
- GRCh38:
- Chr6:109727213
| FIG4 | M132V | Charcot-Marie-Tooth disease type 4J | Uncertain significance
(Apr 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:110048470
- GRCh38:
- Chr6:109727267
| FIG4 | | Charcot-Marie-Tooth disease type 4J | Likely pathogenic
(Oct 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:110048422
- GRCh38:
- Chr6:109727219
| FIG4 | Y134H | Charcot-Marie-Tooth disease type 4J | Uncertain significance
(Nov 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:110146449
- GRCh38:
- Chr6:109825246
| FIG4 | I902T | Charcot-Marie-Tooth disease type 4 | Uncertain significance
(Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:110110873-110110874
- GRCh38:
- Chr6:109789670-109789671
| FIG4 | L726fs | Charcot-Marie-Tooth disease type 4J | Pathogenic
(Oct 5, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr6:110062698
- GRCh38:
- Chr6:109741495
| FIG4 | S276F | Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease type 4 | Uncertain significance
(Apr 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110146290
- GRCh38:
- Chr6:109825087
| FIG4 | | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, not provided
| Conflicting interpretations of pathogenicity
(Aug 29, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:110048489-110048490
- GRCh38:
- Chr6:109727286-109727287
| FIG4 | | not provided, Charcot-Marie-Tooth disease, Bilateral parasagittal parieto-occipital polymicrogyria,
Yunis-Varon syndrome, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11
| Benign
(Aug 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110053820-110053821
- GRCh38:
- Chr6:109732617-109732618
| FIG4 | | Bilateral parasagittal parieto-occipital polymicrogyria, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J,
Yunis-Varon syndrome, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease,
not provided | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110053824
- GRCh38:
- Chr6:109732621
| FIG4 | | Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J, Yunis-Varon syndrome,
Bilateral parasagittal parieto-occipital polymicrogyria, Charcot-Marie-Tooth disease | Likely benign
(May 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110118059
- GRCh38:
- Chr6:109796856
| FIG4 | | Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:110112620
- GRCh38:
- Chr6:109791417
| FIG4 | T741M | Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J
| Uncertain significance
(Jun 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110107655
- GRCh38:
- Chr6:109786452
| FIG4 | | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11,
Charcot-Marie-Tooth disease type 4J | Uncertain significance
(Dec 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110146434
- GRCh38:
- Chr6:109825231
| FIG4 | M897T | not provided, Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11,
Charcot-Marie-Tooth disease type 4J | Uncertain significance
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110098272
- GRCh38:
- Chr6:109777069
| FIG4 | | Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:110086263
- GRCh38:
- Chr6:109765060
| FIG4 | | Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4
| Conflicting interpretations of pathogenicity
(Aug 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:110012487
- GRCh38:
- Chr6:109691284
| FIG4 | | Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:110113852
- GRCh38:
- Chr6:109792649
| FIG4 | F815S | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11,
Charcot-Marie-Tooth disease type 4J, Yunis-Varon syndrome, Bilateral parasagittal parieto-occipital polymicrogyria,
not provided, Charcot-Marie-Tooth disease type 4J | Uncertain significance
(Jun 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110059539
- GRCh38:
- Chr6:109738336
| FIG4 | I220V | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease,
Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J | Conflicting interpretations of pathogenicity
(Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:110146296
- GRCh38:
- Chr6:109825093
| FIG4 | P851L | not provided, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11
| Uncertain significance
(Dec 9, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110053824-110053825
- GRCh38:
- Chr6:109732621-109732622
| FIG4 | | Charcot-Marie-Tooth disease, Bilateral parasagittal parieto-occipital polymicrogyria, not provided,
Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4,
Yunis-Varon syndrome | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110106277
- GRCh38:
- Chr6:109785074
| FIG4 | | not provided, Bilateral parasagittal parieto-occipital polymicrogyria, Yunis-Varon syndrome,
Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11 | Benign
(Aug 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110081591
- GRCh38:
- Chr6:109760388
| FIG4 | | Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4,
Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11 | Conflicting interpretations of pathogenicity
(Aug 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:110048310
- GRCh38:
- Chr6:109727107
| FIG4 | | Bilateral parasagittal parieto-occipital polymicrogyria, Yunis-Varon syndrome, Charcot-Marie-Tooth disease type 4J
| Pathogenic
(Apr 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:110064311
- GRCh38:
- Chr6:109743108
| FIG4 | | not provided, Inborn genetic diseases, FIG4-related condition,
Charcot-Marie-Tooth disease type 4 | Pathogenic/Likely pathogenic
(Aug 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110088023
- GRCh38:
- Chr6:109766820
| FIG4 | K559* | Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease | Uncertain significance
(Jan 6, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr6:110081462-110081463
- GRCh38:
- Chr6:109760259-109760260
| FIG4 | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4J | Uncertain significance
(Jan 6, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr6:110062661-110062664
- GRCh38:
- Chr6:109741458-109741461
| FIG4 | G264fs | Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease | Uncertain significance
(Jan 6, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr6:110112694-110112695
- GRCh38:
- Chr6:109791491-109791492
| FIG4 | E767fs | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 | Pathogenic
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110107541-110107542
- GRCh38:
- Chr6:109786338-109786339
| FIG4 | K663fs | Charcot-Marie-Tooth disease type 4 | Pathogenic
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:110081464-110081465
- GRCh38:
- Chr6:109760261-109760262
| FIG4 | K383fs | Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease | Uncertain significance
(Jan 6, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr6:110037687
- GRCh38:
- Chr6:109716484
| FIG4 | R69C | Inborn genetic diseases, FIG4-related condition, not provided,
Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11, FIG4-Related Disorders,
Charcot-Marie-Tooth disease type 4 | Uncertain significance
(Jun 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110112758
- GRCh38:
- Chr6:109791555
| FIG4 | S787N | Yunis-Varon syndrome, Bilateral parasagittal parieto-occipital polymicrogyria, Amyotrophic lateral sclerosis type 11,
Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases,
not provided | Uncertain significance
(Dec 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110113794
- GRCh38:
- Chr6:109792591
| FIG4 | Q796* | Charcot-Marie-Tooth disease type 4, not provided | Pathogenic/Likely pathogenic
(Jun 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110056495
- GRCh38:
- Chr6:109735292
| FIG4 | G214R | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4J,
Amyotrophic lateral sclerosis type 11 | Conflicting interpretations of pathogenicity
(Oct 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:110036323
- GRCh38:
- Chr6:109715120
| FIG4 | R37C | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4J,
Amyotrophic lateral sclerosis type 11 | Uncertain significance
(May 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110146439
- GRCh38:
- Chr6:109825236
| FIG4 | R899* | Charcot-Marie-Tooth disease type 4, not provided | Uncertain significance
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110117960
- GRCh38:
- Chr6:109796757
| FIG4 | | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4J, not provided
| Uncertain significance
(Aug 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110117975
- GRCh38:
- Chr6:109796772
| FIG4 | Q823* | not provided, Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease type 4,
Yunis-Varon syndrome | Pathogenic/Likely pathogenic
(Jul 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110059618
- GRCh38:
- Chr6:109738415
| FIG4 | W246* | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, FIG4-related condition,
not provided, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J,
Yunis-Varon syndrome, Bilateral parasagittal parieto-occipital polymicrogyria | Pathogenic
(Apr 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110083391-110083392
- GRCh38:
- Chr6:109762188-109762189
| FIG4 | L458fs | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, not provided
| Pathogenic
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110062705
- GRCh38:
- Chr6:109741502
| FIG4 | K278N | Bilateral parasagittal parieto-occipital polymicrogyria, not specified, Charcot-Marie-Tooth disease type 4,
Yunis-Varon syndrome, not provided, Inborn genetic diseases,
Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11 | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:110012671
- GRCh38:
- Chr6:109691468
| FIG4 | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, not specified,
Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11, Inborn genetic diseases
| Conflicting interpretations of pathogenicity
(Aug 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:110048477
- GRCh38:
- Chr6:109727274
| FIG4 | | not specified, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11,
Charcot-Marie-Tooth disease, not provided, Charcot-Marie-Tooth disease type 4
| Conflicting interpretations of pathogenicity
(Oct 11, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:110146588
- GRCh38:
- Chr6:109825385
| FIG4 | | not provided, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11
| Benign
(Jun 19, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110146497
- GRCh38:
- Chr6:109825294
| FIG4 | | not provided, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11
| Benign
(Jun 26, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110146475
- GRCh38:
- Chr6:109825272
| FIG4 | | not provided, Charcot-Marie-Tooth disease, Amyotrophic lateral sclerosis type 11,
Charcot-Marie-Tooth disease type 4J | Benign
(Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110146312
- GRCh38:
- Chr6:109825109
| FIG4 | | Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J
| Conflicting interpretations of pathogenicity
(Aug 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:110146287
- GRCh38:
- Chr6:109825084
| FIG4 | | Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J
| Conflicting interpretations of pathogenicity
(May 8, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:110146286
- GRCh38:
- Chr6:109825083
| FIG4 | | Charcot-Marie-Tooth disease, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J,
Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, not provided
| Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:110146280
- GRCh38:
- Chr6:109825077
| FIG4 | | Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J
| Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:110117968
- GRCh38:
- Chr6:109796765
| FIG4 | R820S | not provided, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J
| Uncertain significance
(Dec 20, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110112621
- GRCh38:
- Chr6:109791418
| FIG4 | | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11,
Charcot-Marie-Tooth disease type 4J | Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:110107652
- GRCh38:
- Chr6:109786449
| FIG4 | R699H | Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease type 4,
Yunis-Varon syndrome, not provided | Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110098237
- GRCh38:
- Chr6:109777034
| FIG4 | | Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease,
Charcot-Marie-Tooth disease type 4, not specified, not provided
| Conflicting interpretations of pathogenicity
(Oct 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:110098167
- GRCh38:
- Chr6:109776964
| FIG4 | F598Y | Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J
| Uncertain significance
(Oct 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110088010-110088011
- GRCh38:
- Chr6:109766807-109766808
| FIG4 | T556fs | not provided, FIG4-Related Disorders, Charcot-Marie-Tooth disease type 4
| Pathogenic/Likely pathogenic
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110083284
- GRCh38:
- Chr6:109762081
| FIG4 | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11,
Charcot-Marie-Tooth disease type 4J | Conflicting interpretations of pathogenicity
(Oct 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:110081557
- GRCh38:
- Chr6:109760354
| FIG4 | | Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4,
Bilateral parasagittal parieto-occipital polymicrogyria, Charcot-Marie-Tooth disease type 4J, Yunis-Varon syndrome,
Amyotrophic lateral sclerosis type 11, not specified, Amyotrophic lateral sclerosis type 11,
Charcot-Marie-Tooth disease type 4J | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110048372
- GRCh38:
- Chr6:109727169
| FIG4 | A117V | not provided, Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11,
Charcot-Marie-Tooth disease type 4J | Conflicting interpretations of pathogenicity
(Sep 15, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:110037744
- GRCh38:
- Chr6:109716541
| FIG4 | R88* | FIG4-Related Disorders, Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11
| Conflicting interpretations of pathogenicity
(Jul 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:110037725
- GRCh38:
- Chr6:109716522
| FIG4 | | Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4
| Conflicting interpretations of pathogenicity
(Oct 12, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:110037717
- GRCh38:
- Chr6:109716514
| FIG4 | G79R | Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:110037655
- GRCh38:
- Chr6:109716452
| FIG4 | Y58C | not provided, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J,
Inborn genetic diseases, not specified, Charcot-Marie-Tooth disease type 4
| Benign/Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110012555
- GRCh38:
- Chr6:109691352
| FIG4 | | Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:110012527
- GRCh38:
- Chr6:109691324
| FIG4 | | Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:110012519
- GRCh38:
- Chr6:109691316
| FIG4 | | not provided, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J
| Benign
(Nov 25, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110012518
- GRCh38:
- Chr6:109691315
| FIG4 | | not provided, Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11
| Benign
(Jan 6, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110012515
- GRCh38:
- Chr6:109691312
| FIG4 | | Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:110012507
- GRCh38:
- Chr6:109691304
| FIG4 | | Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:110012505
- GRCh38:
- Chr6:109691302
| FIG4 | | Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:110012501
- GRCh38:
- Chr6:109691298
| FIG4 | | Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:110012457
- GRCh38:
- Chr6:109691254
| FIG4 | | not provided, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J
| Benign/Likely benign
(Jun 14, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110062679
- GRCh38:
- Chr6:109741476
| FIG4 | T270A | Charcot-Marie-Tooth disease, not specified, not provided,
Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4J
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110053824
- GRCh38:
- Chr6:109732621
| FIG4 | | Yunis-Varon syndrome, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J,
Bilateral parasagittal parieto-occipital polymicrogyria, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4,
not specified, not provided | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110146303
- GRCh38:
- Chr6:109825100
| FIG4 | | Charcot-Marie-Tooth disease, Amyotrophic lateral sclerosis type 11, not specified,
Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease type 4, not provided,
Bilateral parasagittal parieto-occipital polymicrogyria, Yunis-Varon syndrome | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110110787
- GRCh38:
- Chr6:109789584
| FIG4 | | not specified, Charcot-Marie-Tooth disease, Amyotrophic lateral sclerosis type 11,
Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease type 4, not provided
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:110106234
- GRCh38:
- Chr6:109785031
| FIG4 | | Charcot-Marie-Tooth disease, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J,
Charcot-Marie-Tooth disease type 4, not specified, not provided,
Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J, Bilateral parasagittal parieto-occipital polymicrogyria,
Yunis-Varon syndrome | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110087924
- GRCh38:
- Chr6:109766721
| FIG4 | | Charcot-Marie-Tooth disease, not specified, Charcot-Marie-Tooth disease type 4,
Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J, not provided
| Conflicting interpretations of pathogenicity
(Apr 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:110146482
- GRCh38:
- Chr6:109825279
| FIG4 | | Charcot-Marie-Tooth disease, not specified, not provided,
Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J | Benign/Likely benign
(Dec 18, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110106223
- GRCh38:
- Chr6:109785020
| FIG4 | Y647C | Inborn genetic diseases, not provided, Charcot-Marie-Tooth disease,
Charcot-Marie-Tooth disease type 4, not specified, Amyotrophic lateral sclerosis type 11,
Charcot-Marie-Tooth disease type 4J | Conflicting interpretations of pathogenicity
(Jan 9, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:110059638
- GRCh38:
- Chr6:109738435
| FIG4 | | not provided, Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11
| Pathogenic
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110113868
- GRCh38:
- Chr6:109792665
| FIG4 | | not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4,
Charcot-Marie-Tooth disease type 4J | Pathogenic/Likely pathogenic
(Jun 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110112598
- GRCh38:
- Chr6:109791395
| FIG4 | E734K | Charcot-Marie-Tooth disease type 4, not provided, Charcot-Marie-Tooth disease type 4J,
Amyotrophic lateral sclerosis type 11 | Uncertain significance
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110012714
- GRCh38:
- Chr6:109691511
| FIG4 | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, not specified,
Charcot-Marie-Tooth disease type 4J, Amyotrophic lateral sclerosis type 11, not provided
| Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110081456
- GRCh38:
- Chr6:109760253
| FIG4 | R381* | Charcot-Marie-Tooth disease type 4J, not provided, Inborn genetic diseases,
Charcot-Marie-Tooth disease type 4 | Pathogenic
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110146311
- GRCh38:
- Chr6:109825108
| FIG4 | S856L | Charcot-Marie-Tooth disease type 4, not provided, Charcot-Marie-Tooth disease type 4J,
Amyotrophic lateral sclerosis type 11 | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110048310
- GRCh38:
- Chr6:109727107
| FIG4 | | Charcot-Marie-Tooth disease type 4J | Likely pathogenic
(Jun 13, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:110064340
- GRCh38:
- Chr6:109743137
| FIG4 | E302K | Charcot-Marie-Tooth disease type 4, Tremor | Conflicting interpretations of pathogenicity
(Jul 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:110012688
- GRCh38:
- Chr6:109691485
| FIG4 | L17P | Charcot-Marie-Tooth disease type 4 | Uncertain significance
(Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:110107517
- GRCh38:
- Chr6:109786314
| FIG4 | V654A | Charcot-Marie-Tooth disease, Yunis-Varon syndrome, Charcot-Marie-Tooth disease type 4,
Bilateral parasagittal parieto-occipital polymicrogyria, not provided, not specified,
Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110012665
- GRCh38:
- Chr6:109691462
| FIG4 | | Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J, Yunis-Varon syndrome,
Bilateral parasagittal parieto-occipital polymicrogyria, Charcot-Marie-Tooth disease, Inborn genetic diseases,
not specified, Charcot-Marie-Tooth disease type 4, not provided,
Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J ...see more | Benign/Likely benign
(Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110064928
- GRCh38:
- Chr6:109743725
| FIG4 | M364L | Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease,
Charcot-Marie-Tooth disease type 4, not specified, Amyotrophic lateral sclerosis type 11,
Charcot-Marie-Tooth disease type 4J | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110036274
- GRCh38:
- Chr6:109715071
| FIG4 | | Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease,
not specified, Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11,
Charcot-Marie-Tooth disease type 4J | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110062701-110062708
- GRCh38:
- Chr6:109741498-109741505
| FIG4 | K278fs | Charcot-Marie-Tooth disease type 4, not provided, Inborn genetic diseases
| Pathogenic
(Feb 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110064881-110064888
- GRCh38:
- Chr6:109743678-109743685
| FIG4 | D348fs | Charcot-Marie-Tooth disease type 4 | Pathogenic
(Aug 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:110056402
- GRCh38:
- Chr6:109735199
| FIG4 | R183* | Charcot-Marie-Tooth disease type 4, not provided, Amyotrophic lateral sclerosis
| Pathogenic/Likely pathogenic
(Jul 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:110048313
- GRCh38:
- Chr6:109727110
| FIG4 | F98fs | Yunis-Varon syndrome | Pathogenic
(Oct 2, 2019) | criteria provided, single submitter |