| - GRCh37:
- Chr5:148407461
- GRCh38:
- Chr5:149027898
| SH3TC2 | E612* | Charcot-Marie-Tooth disease type 4C | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr5:148384448-148384449
- GRCh38:
- Chr5:149004885-149004886
| SH3TC2 | T1231fs | Charcot-Marie-Tooth disease type 4C | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr5:148420978
- GRCh38:
- Chr5:149041415
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr5:148392148
- GRCh38:
- Chr5:149012585
| SH3TC2 | Q1068R | Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Jun 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148407604
- GRCh38:
- Chr5:149028041
| SH3TC2 | D564G | Charcot-Marie-Tooth disease type 4C | Pathogenic
(Mar 1, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr5:148408028
- GRCh38:
- Chr5:149028465
| SH3TC2 | E423* | Charcot-Marie-Tooth disease type 4C | Pathogenic
(Nov 20, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr5:148384407-148384408
- GRCh38:
- Chr5:149004844-149004845
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148406444-148406445
- GRCh38:
- Chr5:149026881-149026882
| SH3TC2 | L951fs | Charcot-Marie-Tooth disease type 4C | Likely pathogenic
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148406718
- GRCh38:
- Chr5:149027155
| SH3TC2 | Y859* | Charcot-Marie-Tooth disease type 4C | Likely pathogenic
(Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148388419-148388420
- GRCh38:
- Chr5:149008856-149008857
| SH3TC2 | V1158fs | Charcot-Marie-Tooth disease type 4C | Likely pathogenic
(Jun 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148417929-148417930
- GRCh38:
- Chr5:149038366-149038367
| SH3TC2 | S312fs | Charcot-Marie-Tooth disease type 4C | Pathogenic
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148420977
- GRCh38:
- Chr5:149041414
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148386492
- GRCh38:
- Chr5:149006929
| SH3TC2 | Y1209* | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C | Pathogenic
(Sep 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:148424194
- GRCh38:
- Chr5:149044631
| SH3TC2 | S96L | not specified | Uncertain significance
(Jul 27, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148406696
- GRCh38:
- Chr5:149027133
| SH3TC2 | Q867* | Charcot-Marie-Tooth disease type 4C | Pathogenic
(Nov 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148427465-148427471
- GRCh38:
- Chr5:149047902-149047908
| SH3TC2 | L78fs | Charcot-Marie-Tooth disease type 4C | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr5:148384337
- GRCh38:
- Chr5:149004774
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Apr 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148417949
- GRCh38:
- Chr5:149038386
| SH3TC2 | G304R | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:148424098
- GRCh38:
- Chr5:149044535
| SH3TC2 | L128* | Charcot-Marie-Tooth disease type 4C | Pathogenic
(Sep 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148389947
- GRCh38:
- Chr5:149010384
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Feb 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148406446
- GRCh38:
- Chr5:149026883
| SH3TC2 | G950V | Charcot-Marie-Tooth disease type 4C | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr5:148386607
- GRCh38:
- Chr5:149007044
| SH3TC2 | R1171H | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4C,
Susceptibility to mononeuropathy of the median nerve, mild, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:148384405
- GRCh38:
- Chr5:149004842
| SH3TC2 | D1246N | not provided, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4C,
Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4 | Uncertain significance
(Apr 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:148386469
- GRCh38:
- Chr5:149006906
| SH3TC2 | G1217D | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease
| Conflicting interpretations of pathogenicity
(Sep 26, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:148366973
- GRCh38:
- Chr5:148987410
| SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148366792
- GRCh38:
- Chr5:148987229
| SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148378738
- GRCh38:
- Chr5:148999175
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148365575
- GRCh38:
- Chr5:148986012
| SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148364836
- GRCh38:
- Chr5:148985273
| SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148364044
- GRCh38:
- Chr5:148984481
| LOC126807546, SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148363874
- GRCh38:
- Chr5:148984311
| LOC126807546, SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148376823
- GRCh38:
- Chr5:148997260
| SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148376464
- GRCh38:
- Chr5:148996901
| SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, not provided, Charcot-Marie-Tooth disease type 4C
| Likely benign
(Oct 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:148363155
- GRCh38:
- Chr5:148983592
| SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148363125
- GRCh38:
- Chr5:148983562
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:148362993
- GRCh38:
- Chr5:148983430
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148376013
- GRCh38:
- Chr5:148996450
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148362066
- GRCh38:
- Chr5:148982503
| SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148375240
- GRCh38:
- Chr5:148995677
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148375152
- GRCh38:
- Chr5:148995589
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148375081
- GRCh38:
- Chr5:148995518
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148407373
- GRCh38:
- Chr5:149027810
| SH3TC2 | R641L | Charcot-Marie-Tooth disease type 4, not provided, Charcot-Marie-Tooth disease type 4C,
Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Sep 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:148374163
- GRCh38:
- Chr5:148994600
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148374161
- GRCh38:
- Chr5:148994598
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148373509
- GRCh38:
- Chr5:148993946
| SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148373472
- GRCh38:
- Chr5:148993909
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Mar 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148384478
- GRCh38:
- Chr5:149004915
| SH3TC2 | | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild
| Conflicting interpretations of pathogenicity
(Nov 27, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:148372847
- GRCh38:
- Chr5:148993284
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148383623
- GRCh38:
- Chr5:149004060
| SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148372085
- GRCh38:
- Chr5:148992522
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148372084
- GRCh38:
- Chr5:148992521
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148382853
- GRCh38:
- Chr5:149003290
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148382729
- GRCh38:
- Chr5:149003166
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148382658
- GRCh38:
- Chr5:149003095
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148371070
- GRCh38:
- Chr5:148991507
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148370982
- GRCh38:
- Chr5:148991419
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Mar 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148382156
- GRCh38:
- Chr5:149002593
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148382037
- GRCh38:
- Chr5:149002474
| SH3TC2 | | not provided, Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild
| Benign/Likely benign
(May 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:148369824
- GRCh38:
- Chr5:148990261
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148369794
- GRCh38:
- Chr5:148990231
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148381353
- GRCh38:
- Chr5:149001790
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148381351
- GRCh38:
- Chr5:149001788
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148381028
- GRCh38:
- Chr5:149001465
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148380961
- GRCh38:
- Chr5:149001398
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148380855
- GRCh38:
- Chr5:149001292
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148367554
- GRCh38:
- Chr5:148987991
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Mar 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148378533
- GRCh38:
- Chr5:148998970
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148378526
- GRCh38:
- Chr5:148998963
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148365450
- GRCh38:
- Chr5:148985887
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148365255
- GRCh38:
- Chr5:148985692
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148377892
- GRCh38:
- Chr5:148998329
| SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Mar 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148377882
- GRCh38:
- Chr5:148998319
| SH3TC2 | | not provided, Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C
| Benign/Likely benign
(May 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:148364722
- GRCh38:
- Chr5:148985159
| LOC126807546, SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148364643
- GRCh38:
- Chr5:148985080
| LOC126807546, SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148377210
- GRCh38:
- Chr5:148997647
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148377122
- GRCh38:
- Chr5:148997559
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148377085
- GRCh38:
- Chr5:148997522
| SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148363762
- GRCh38:
- Chr5:148984199
| LOC126807546, SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148363721
- GRCh38:
- Chr5:148984158
| LOC126807546, SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148376397
- GRCh38:
- Chr5:148996834
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148376376
- GRCh38:
- Chr5:148996813
| SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148376357
- GRCh38:
- Chr5:148996794
| SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:148376356
- GRCh38:
- Chr5:148996793
| SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148362903
- GRCh38:
- Chr5:148983340
| SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148442662
- GRCh38:
- Chr5:149063099
| LOC114004390, SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148375925
- GRCh38:
- Chr5:148996362
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148361769
- GRCh38:
- Chr5:148982206
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148374917
- GRCh38:
- Chr5:148995354
| SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148407788
- GRCh38:
- Chr5:149028225
| SH3TC2 | E503K | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C,
Susceptibility to mononeuropathy of the median nerve, mild | Conflicting interpretations of pathogenicity
(Jun 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:148374260
- GRCh38:
- Chr5:148994697
| SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148374044
- GRCh38:
- Chr5:148994481
| SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148373879
- GRCh38:
- Chr5:148994316
| SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148384235
- GRCh38:
- Chr5:149004672
| SH3TC2 | | not provided, Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C
| Benign
(Jun 28, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:148384230
- GRCh38:
- Chr5:149004667
| SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148372685
- GRCh38:
- Chr5:148993122
| SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:148372670
- GRCh38:
- Chr5:148993107
| SH3TC2 | | not provided, Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C
| Benign/Likely benign
(May 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:148383477
- GRCh38:
- Chr5:149003914
| SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148372018
- GRCh38:
- Chr5:148992455
| SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148371918
- GRCh38:
- Chr5:148992355
| SH3TC2 | | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:148371832
- GRCh38:
- Chr5:148992269
| SH3TC2 | | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |