| - GRCh37:
- Chr19:40901161
- GRCh38:
- Chr19:40395254
| PRX | T1033fs | Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4 | Pathogenic/Likely pathogenic
(May 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - 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:
- Chr19:40901678
- GRCh38:
- Chr19:40395771
| PRX | L861fs | Charcot-Marie-Tooth disease type 4F | Pathogenic
(Nov 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40901540
- GRCh38:
- Chr19:40395633
| PRX | Q907* | Charcot-Marie-Tooth disease type 4F | Likely pathogenic
(Nov 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40903075
- GRCh38:
- Chr19:40397168
| PRX | T395I | Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Feb 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40904677
- GRCh38:
- Chr19:40398770
| PRX | Y77* | Charcot-Marie-Tooth disease type 4 | Pathogenic
(Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40902698
- GRCh38:
- Chr19:40396791
| PRX | Q521* | Charcot-Marie-Tooth disease type 4F | Likely pathogenic
(Sep 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40900492
- GRCh38:
- Chr19:40394585
| PRX | V1256G | Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease | Uncertain significance
(Jan 3, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40909610
- GRCh38:
- Chr19:40403703
| PRX | | Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40903814
- GRCh38:
- Chr19:40397907
| PRX | A149S | Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40901953
- GRCh38:
- Chr19:40396046
| PRX | P769L | not provided, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
| Uncertain significance
(Jul 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40901750
- GRCh38:
- Chr19:40395843
| PRX | | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F | Conflicting interpretations of pathogenicity
(Aug 22, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40900858
- GRCh38:
- Chr19:40394951
| PRX | V1134A | Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40900573
- GRCh38:
- Chr19:40394666
| PRX | R1229Q | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40903684
- GRCh38:
- Chr19:40397777
| PRX | R192Q | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Apr 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40902482
- GRCh38:
- Chr19:40396575
| PRX | M593V | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40902441
- GRCh38:
- Chr19:40396534
| PRX | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
| Conflicting interpretations of pathogenicity
(Dec 3, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40901562
- GRCh38:
- Chr19:40395655
| PRX | | Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40900333
- GRCh38:
- Chr19:40394426
| PRX | P1309L | Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Mar 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40903434
- GRCh38:
- Chr19:40397527
| PRX | | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F, not provided
| Conflicting interpretations of pathogenicity
(Oct 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40903415
- GRCh38:
- Chr19:40397508
| PRX | A282P | Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40902391
- GRCh38:
- Chr19:40396484
| PRX | L623R | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40902390
- GRCh38:
- Chr19:40396483
| PRX | | Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40901409
- GRCh38:
- Chr19:40395502
| PRX | | Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40899980
- GRCh38:
- Chr19:40394073
| PRX | D1427Y | Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40914055
- GRCh38:
- Chr19:40408148
| LOC130064456, PRX | | Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40903316
- GRCh38:
- Chr19:40397409
| PRX | R315W | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
| Uncertain significance
(Oct 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40901998
- GRCh38:
- Chr19:40396091
| PRX | R754Q | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, not provided,
Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Apr 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40901976
- GRCh38:
- Chr19:40396069
| PRX | | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F | Conflicting interpretations of pathogenicity
(Mar 23, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40899828
- GRCh38:
- Chr19:40393921
| PRX | | Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40899705
- GRCh38:
- Chr19:40393798
| PRX | | Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40903706
- GRCh38:
- Chr19:40397799
| PRX | R185C | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
| Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40900586
- GRCh38:
- Chr19:40394679
| PRX | V1225M | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F | Conflicting interpretations of pathogenicity
(Jul 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40902712
- GRCh38:
- Chr19:40396805
| PRX | R516Q | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40913812
- GRCh38:
- Chr19:40407905
| PRX | | Charcot-Marie-Tooth disease type 4F | Likely pathogenic
(Aug 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr19:40901174
- GRCh38:
- Chr19:40395267
| PRX | R1029* | Charcot-Marie-Tooth disease type 4F | Likely pathogenic
(Sep 26, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr19:40900296
- GRCh38:
- Chr19:40394389
| PRX | | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F | Conflicting interpretations of pathogenicity
(Jul 30, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40903315
- GRCh38:
- Chr19:40397408
| PRX | R315Q | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
| Conflicting interpretations of pathogenicity
(Mar 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40903527
- GRCh38:
- Chr19:40397620
| PRX | | Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4 | Conflicting interpretations of pathogenicity
(Nov 12, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40901544
- GRCh38:
- Chr19:40395637
| PRX | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4,
not provided | Conflicting interpretations of pathogenicity
(Oct 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40903632
- GRCh38:
- Chr19:40397725
| PRX | A210fs | Charcot-Marie-Tooth disease type 4, not provided | Pathogenic
(Aug 1, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40903267
- GRCh38:
- Chr19:40397360
| PRX | P331L | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
| Uncertain significance
(Feb 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40903864-40903865
- GRCh38:
- Chr19:40397957-40397958
| PRX | L132fs | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4F | Conflicting interpretations of pathogenicity
(Jan 1, 2006) | no assertion criteria provided |
| - GRCh37:
- Chr19:40903062-40903065
- GRCh38:
- Chr19:40397155-40397158
| PRX | L400fs | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4F | Conflicting interpretations of pathogenicity
(Mar 14, 2006) | no assertion criteria provided |
| - GRCh37:
- Chr19:40903280
- GRCh38:
- Chr19:40397373
| PRX | D327fs | Charcot-Marie-Tooth disease type 4F | Pathogenic
(Jan 1, 2019) | 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:
- Chr19:40900537
- GRCh38:
- Chr19:40394630
| PRX | G1241D | Charcot-Marie-Tooth disease type 4, not provided, Charcot-Marie-Tooth disease type 4F
| Uncertain significance
(Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40900340
- GRCh38:
- Chr19:40394433
| PRX | R1307W | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40901350
- GRCh38:
- Chr19:40395443
| PRX | R970Q | Inborn genetic diseases, not provided, Charcot-Marie-Tooth disease type 4F,
Charcot-Marie-Tooth disease type 4 | Uncertain significance
(Mar 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40900556
- GRCh38:
- Chr19:40394649
| PRX | E1235* | Charcot-Marie-Tooth disease type 4F | Pathogenic
(Apr 25, 2018) | no assertion criteria provided |
| - 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:
- Chr19:40903044
- GRCh38:
- Chr19:40397137
| PRX | | Charcot-Marie-Tooth disease type 4F, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
| Conflicting interpretations of pathogenicity
(Jul 6, 2022) | criteria provided, conflicting interpretations |
| - 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:
- Chr19:40903266
- GRCh38:
- Chr19:40397359
| PRX | | Inborn genetic diseases, Charcot-Marie-Tooth disease, not provided,
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F, not specified
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40903540
- GRCh38:
- Chr19:40397633
| PRX | R240Q | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4,
not provided | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40900551
- GRCh38:
- Chr19:40394644
| PRX | | not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease,
Charcot-Marie-Tooth disease type 4, not specified, Charcot-Marie-Tooth disease type 4F
| Conflicting interpretations of pathogenicity
(Oct 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40902030
- GRCh38:
- Chr19:40396123
| PRX | | Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
| Conflicting interpretations of pathogenicity
(Oct 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40902890
- GRCh38:
- Chr19:40396983
| PRX | E457K | not provided, Charcot-Marie-Tooth disease type 4F, Inborn genetic diseases,
Charcot-Marie-Tooth disease type 4 | Conflicting interpretations of pathogenicity
(Nov 17, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40903233
- GRCh38:
- Chr19:40397326
| PRX | | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4
| Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40902635
- GRCh38:
- Chr19:40396728
| PRX | R542W | not provided, Charcot-Marie-Tooth disease type 4F, Inborn genetic diseases,
Charcot-Marie-Tooth disease type 4 | Likely benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40899942
- GRCh38:
- Chr19:40394035
| PRX | | Charcot-Marie-Tooth disease type 4F, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
| Conflicting interpretations of pathogenicity
(Jul 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40902699-40902776
- GRCh38:
- Chr19:40396792-40396869
| PRX | | Inborn genetic diseases, not provided, Charcot-Marie-Tooth disease type 4F,
Charcot-Marie-Tooth disease type 4 | Uncertain significance
(Nov 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40901711
- GRCh38:
- Chr19:40395804
| PRX | P850A | Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4,
not specified, not provided, Charcot-Marie-Tooth disease type 4F
| Conflicting interpretations of pathogenicity
(Jun 6, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40901531
- GRCh38:
- Chr19:40395624
| PRX | A910T | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
| Conflicting interpretations of pathogenicity
(Aug 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40901977
- GRCh38:
- Chr19:40396070
| PRX | P761L | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40900484
- GRCh38:
- Chr19:40394577
| PRX | E1259K | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F, not provided
| Conflicting interpretations of pathogenicity
(Oct 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40901427
- GRCh38:
- Chr19:40395520
| PRX | | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F,
not specified | Conflicting interpretations of pathogenicity
(Jun 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40900457
- GRCh38:
- Chr19:40394550
| PRX | A1268P | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, not provided,
Charcot-Marie-Tooth disease type 4F | Conflicting interpretations of pathogenicity
(Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40901790
- GRCh38:
- Chr19:40395883
| PRX | | Charcot-Marie-Tooth disease, not provided, Charcot-Marie-Tooth disease type 4,
not specified, Charcot-Marie-Tooth disease type 4F, Inborn genetic diseases
| Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40914284
- GRCh38:
- Chr19:40408377
| PRX | | Charcot-Marie-Tooth disease type 4F, not specified | Likely benign
(Jan 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40914240
- GRCh38:
- Chr19:40408333
| PRX | | Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40914177
- GRCh38:
- Chr19:40408270
| PRX | | Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40914125
- GRCh38:
- Chr19:40408218
| LOC130064456, PRX | | Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40914108
- GRCh38:
- Chr19:40408201
| LOC130064456, PRX | | Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40914079
- GRCh38:
- Chr19:40408172
| LOC130064456, PRX | | not provided, Charcot-Marie-Tooth disease type 4F | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40904671
- GRCh38:
- Chr19:40398764
| PRX | | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, not specified,
Charcot-Marie-Tooth disease type 4F | Conflicting interpretations of pathogenicity
(Jul 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40904529
- GRCh38:
- Chr19:40398622
| PRX | | Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4 | Conflicting interpretations of pathogenicity
(Jul 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40903788
- GRCh38:
- Chr19:40397881
| PRX | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F,
not provided | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40903766
- GRCh38:
- Chr19:40397859
| PRX | R165C | Charcot-Marie-Tooth disease type 4F, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
| Benign/Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40903759
- GRCh38:
- Chr19:40397852
| PRX | R167P | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F,
Inborn genetic diseases, not provided | Uncertain significance
(Aug 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40903720
- GRCh38:
- Chr19:40397813
| PRX | P180L | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Jan 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40903705
- GRCh38:
- Chr19:40397798
| PRX | R185H | not provided, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease,
Charcot-Marie-Tooth disease type 4F | Benign/Likely benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40903662
- GRCh38:
- Chr19:40397755
| PRX | | Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4,
Charcot-Marie-Tooth disease type 4F | Conflicting interpretations of pathogenicity
(Aug 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40903576
- GRCh38:
- Chr19:40397669
| PRX | R228H | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4F
| Conflicting interpretations of pathogenicity
(Oct 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40903426
- GRCh38:
- Chr19:40397519
| PRX | P278L | Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4 | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40903299
- GRCh38:
- Chr19:40397392
| PRX | | Charcot-Marie-Tooth disease type 4, not specified, Charcot-Marie-Tooth disease type 4F,
Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Aug 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40903293
- GRCh38:
- Chr19:40397386
| PRX | | Charcot-Marie-Tooth disease type 4F, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4,
not provided | Conflicting interpretations of pathogenicity
(Dec 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40903172
- GRCh38:
- Chr19:40397265
| PRX | P363A | Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40902978
- GRCh38:
- Chr19:40397071
| PRX | | Inborn genetic diseases, not provided, Dejerine-Sottas disease,
Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4, not specified,
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4F | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40902759
- GRCh38:
- Chr19:40396852
| PRX | | not specified, Charcot-Marie-Tooth disease, Inborn genetic diseases,
Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4 | Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40902691
- GRCh38:
- Chr19:40396784
| PRX | L523P | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4
| Conflicting interpretations of pathogenicity
(Mar 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:40902634
- GRCh38:
- Chr19:40396727
| PRX | R542Q | not provided, Charcot-Marie-Tooth disease type 4, Dejerine-Sottas disease,
Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4F
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40902431
- GRCh38:
- Chr19:40396524
| PRX | E610K | Charcot-Marie-Tooth disease, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4F,
Charcot-Marie-Tooth disease type 4 | Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40902368
- GRCh38:
- Chr19:40396461
| PRX | L631V | Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40902295
- GRCh38:
- Chr19:40396388
| PRX | P655L | 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
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40902242
- GRCh38:
- Chr19:40396335
| PRX | M673V | not specified, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4F,
Charcot-Marie-Tooth disease type 4, not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40902188
- GRCh38:
- Chr19:40396281
| PRX | M691L | Charcot-Marie-Tooth disease type 4F | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:40902044
- GRCh38:
- Chr19:40396137
| PRX | D739N | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4,
not provided | Uncertain significance
(Jul 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:40901967
- GRCh38:
- Chr19:40396060
| PRX | | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4F
| Conflicting interpretations of pathogenicity
(Aug 25, 2022) | criteria provided, conflicting interpretations |