| - GRCh37:
- Chr7:75933149
- GRCh38:
- Chr7:76303832
| HSPB1 | G132V | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Dec 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932209
- GRCh38:
- Chr7:76302892
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933346
- GRCh38:
- Chr7:76304029
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932030-75933490
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932030-75933490
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Aug 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932366-75934037
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933390
- GRCh38:
- Chr7:76304073
| HSPB1 | A173V | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Jan 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933285-75933286
- GRCh38:
- Chr7:76303968-76303969
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932148
- GRCh38:
- Chr7:76302831
| HSPB1 | E40V | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(May 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933379
- GRCh38:
- Chr7:76304062
| HSPB1 | M169I | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Apr 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933294
- GRCh38:
- Chr7:76303977
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932404
- GRCh38:
- Chr7:76303087
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932252
- GRCh38:
- Chr7:76302935
| HSPB1 | R75C | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Oct 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932109
- GRCh38:
- Chr7:76302792
| HSPB1 | R27H | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932104
- GRCh38:
- Chr7:76302787
| HSPB1 | H25Q | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932391
- GRCh38:
- Chr7:76303074
| HSPB1 | T121S | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932228
- GRCh38:
- Chr7:76302911
| HSPB1 | A67T | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933349
- GRCh38:
- Chr7:76304032
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Mar 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933472
- GRCh38:
- Chr7:76304155
| HSPB1 | D200E | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932069
- GRCh38:
- Chr7:76302752
| HSPB1 | P14S | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933344
- GRCh38:
- Chr7:76304027
| HSPB1 | S158fs | Charcot-Marie-Tooth disease axonal type 2F | Pathogenic
(Oct 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933474
- GRCh38:
- Chr7:76304157
| HSPB1 | E201G | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933307
- GRCh38:
- Chr7:76303990
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(May 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932225
- GRCh38:
- Chr7:76302908
| HSPB1 | P66S | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933119
- GRCh38:
- Chr7:76303802
| HSPB1 | G122D | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Oct 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933471
- GRCh38:
- Chr7:76304154
| HSPB1 | D200V | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Apr 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932347
- GRCh38:
- Chr7:76303030
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Mar 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932274-75932275
- GRCh38:
- Chr7:76302957-76302958
| HSPB1 | S83fs | Charcot-Marie-Tooth disease axonal type 2F | Pathogenic
(Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932152
- GRCh38:
- Chr7:76302835
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933114
- GRCh38:
- Chr7:76303797
| HSPB1 | | Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2F | Conflicting interpretations of pathogenicity
(May 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:75932184
- GRCh38:
- Chr7:76302867
| HSPB1 | P52R | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933331
- GRCh38:
- Chr7:76304014
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Aug 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932074
- GRCh38:
- Chr7:76302757
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Dec 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932398-75932399
- GRCh38:
- Chr7:76303081-76303082
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Benign
(Oct 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933409
- GRCh38:
- Chr7:76304092
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932191
- GRCh38:
- Chr7:76302874
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Dec 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932203
- GRCh38:
- Chr7:76302886
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932406
- GRCh38:
- Chr7:76303089
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Oct 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933403
- GRCh38:
- Chr7:76304086
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932062
- GRCh38:
- Chr7:76302745
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Mar 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933363
- GRCh38:
- Chr7:76304046
| HSPB1 | T164I | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933298
- GRCh38:
- Chr7:76303981
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932255
- GRCh38:
- Chr7:76302938
| HSPB1 | A76P | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932157
- GRCh38:
- Chr7:76302840
| HSPB1 | S43W | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933114-75933115
- GRCh38:
- Chr7:76303797-76303798
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933139
- GRCh38:
- Chr7:76303822
| HSPB1 | D129N | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932343
- GRCh38:
- Chr7:76303026
| HSPB1 | A105D | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933108-75933110
- GRCh38:
- Chr7:76303791-76303793
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Aug 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933370
- GRCh38:
- Chr7:76304053
| HSPB1 | E166D | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933099-75933490
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Pathogenic
(Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932350
- GRCh38:
- Chr7:76303033
| HSPB1 | D107E | Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2F | Conflicting interpretations of pathogenicity
(Oct 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:75932383-75932385
- GRCh38:
- Chr7:76303066-76303068
| HSPB1 | E119del | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932188
- GRCh38:
- Chr7:76302871
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933116
- GRCh38:
- Chr7:76303799
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Jan 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932276
- GRCh38:
- Chr7:76302959
| HSPB1 | S83C | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932204
- GRCh38:
- Chr7:76302887
| HSPB1 | A61fs | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Oct 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932282
- GRCh38:
- Chr7:76302965
| HSPB1 | V85I | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933345
- GRCh38:
- Chr7:76304028
| HSPB1 | S158C | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Oct 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933446-75933448
- GRCh38:
- Chr7:76304129-76304131
| HSPB1 | G193del | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933332-75933334
- GRCh38:
- Chr7:76304015-76304017
| HSPB1 | S156del | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932095
- GRCh38:
- Chr7:76302778
| HSPB1 | W22C | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932304
- GRCh38:
- Chr7:76302987
| HSPB1 | A92V | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932208
- GRCh38:
- Chr7:76302891
| HSPB1 | P60R | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Feb 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933402
- GRCh38:
- Chr7:76304085
| HSPB1 | N177I | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932120
- GRCh38:
- Chr7:76302803
| HSPB1 | Q31E | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932204
- GRCh38:
- Chr7:76302887
| HSPB1 | P59S | not provided, Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Apr 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75932146
- GRCh38:
- Chr7:76302829
| HSPB1 | | not specified, Charcot-Marie-Tooth disease axonal type 2F | Conflicting interpretations of pathogenicity
(Aug 26, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:75932068
- GRCh38:
- Chr7:76302751
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932050
- GRCh38:
- Chr7:76302733
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Jan 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932200
- GRCh38:
- Chr7:76302883
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933126
- GRCh38:
- Chr7:76303809
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Mar 18, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932356
- GRCh38:
- Chr7:76303039
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Aug 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932380
- GRCh38:
- Chr7:76303063
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Dec 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933109
- GRCh38:
- Chr7:76303792
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Oct 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933304
- GRCh38:
- Chr7:76303987
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Mar 8, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932056
- GRCh38:
- Chr7:76302739
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Apr 5, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933341
- GRCh38:
- Chr7:76304024
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933191
- GRCh38:
- Chr7:76303874
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Sep 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932362
- GRCh38:
- Chr7:76303045
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932100-75932101
- GRCh38:
- Chr7:76302783-76302784
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Mar 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933380
- GRCh38:
- Chr7:76304063
| HSPB1 | P170T | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932076
- GRCh38:
- Chr7:76302759
| HSPB1 | W16* | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Jul 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932081
- GRCh38:
- Chr7:76302764
| HSPB1 | P18S | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932036
- GRCh38:
- Chr7:76302719
| HSPB1 | E3K | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932385
- GRCh38:
- Chr7:76303068
| HSPB1 | E119V | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933309
- GRCh38:
- Chr7:76303992
| HSPB1 | P146R | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932360
- GRCh38:
- Chr7:76303043
| HSPB1 | V111I | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932163
- GRCh38:
- Chr7:76302846
| HSPB1 | W45* | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Jun 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933113
- GRCh38:
- Chr7:76303796
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Likely benign
(Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932099
- GRCh38:
- Chr7:76302782
| HSPB1 | P24T | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Jan 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932081
- GRCh38:
- Chr7:76302764
| HSPB1 | P18T | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932207-75932208
- GRCh38:
- Chr7:76302890-76302891
| HSPB1 | | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932282
- GRCh38:
- Chr7:76302965
| HSPB1 | V85F | Charcot-Marie-Tooth disease axonal type 2F, Neuronopathy, distal hereditary motor, type 2B | Uncertain significance
(Dec 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75933332
- GRCh38:
- Chr7:76304015
| HSPB1 | S154A | not provided, Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Aug 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75933442
- GRCh38:
- Chr7:76304125
| HSPB1 | Q190H | Charcot-Marie-Tooth disease axonal type 2F | Conflicting interpretations of pathogenicity
(Jan 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:75932293
- GRCh38:
- Chr7:76302976
| HSPB1 | I88M | Charcot-Marie-Tooth disease axonal type 2F, Inborn genetic diseases | Uncertain significance
(Sep 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75933179
- GRCh38:
- Chr7:76303862
| HSPB1 | Y142C | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932178
- GRCh38:
- Chr7:76302861
| HSPB1 | S50I | Charcot-Marie-Tooth disease axonal type 2F, Inborn genetic diseases, not provided
| Uncertain significance
(Jul 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:75932198
- GRCh38:
- Chr7:76302881
| HSPB1 | P57S | Charcot-Marie-Tooth disease axonal type 2F | Uncertain significance
(Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933470
- GRCh38:
- Chr7:76304153
| HSPB1 | D200N | Charcot-Marie-Tooth disease axonal type 2F, Inborn genetic diseases | Uncertain significance
(Mar 20, 2022) | criteria provided, multiple submitters, no conflicts |