| - GRCh37:
- Chr8:24813392
- GRCh38:
- Chr8:24955878
| NEFL | I213T | Charcot-Marie-Tooth disease | Uncertain significance
(Feb 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70443999
- GRCh38:
- ChrX:71224149
| GJB1 | V148I | Charcot-Marie-Tooth Neuropathy X | Benign
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70443839
- GRCh38:
- ChrX:71223989
| GJB1 | | Charcot-Marie-Tooth Neuropathy X | Likely benign
(Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70443663
- GRCh38:
- ChrX:71223813
| GJB1 | L36V | Charcot-Marie-Tooth Neuropathy X | Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:70444315
- GRCh38:
- ChrX:71224465
| GJB1 | S253N | Charcot-Marie-Tooth Neuropathy X | Uncertain significance
(Aug 26, 2021) | criteria provided, single submitter |
| | | | Amyloidogenic transthyretin amyloidosis | Pathogenic
(Feb 15, 2021) | no assertion criteria provided |
| - GRCh37:
- ChrX:70444084
- GRCh38:
- ChrX:71224234
| GJB1 | T176I | Charcot-Marie-Tooth Neuropathy X, not provided | Uncertain significance
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:24813523
- GRCh38:
- Chr8:24956009
| NEFL | | Charcot-Marie-Tooth disease | Benign | criteria provided, single submitter |
| - GRCh37:
- Chr8:134292502
- GRCh38:
- Chr8:133280259
| NDRG1 | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4 | Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:134260182
- GRCh38:
- Chr8:133247939
| LOC126860531, NDRG1 | | Charcot-Marie-Tooth disease | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr8:134260159
- GRCh38:
- Chr8:133247916
| LOC126860531, NDRG1 | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4 | Likely benign
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:134271398
- GRCh38:
- Chr8:133259155
| NDRG1 | | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease | Likely benign
(Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:134296573-134296574
- GRCh38:
- Chr8:133284330-133284331
| NDRG1 | | Charcot-Marie-Tooth disease, not provided, Charcot-Marie-Tooth disease type 4D
| Benign/Likely benign
(Nov 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:134251253
- GRCh38:
- Chr8:133239010
| NDRG1 | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4 | Likely benign
(Sep 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:134261030
- GRCh38:
- Chr8:133248787
| LOC126860531, NDRG1 | | not provided, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4,
Charcot-Marie-Tooth disease type 4D | Benign/Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:134254328
- GRCh38:
- Chr8:133242085
| NDRG1 | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4 | Likely benign
(Oct 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161275888
- GRCh38:
- Chr1:161306098
| MPZ | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, type I | Likely benign
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161279654
- GRCh38:
- Chr1:161309864
| MPZ | | not provided, Charcot-Marie-Tooth disease | Likely benign
(Dec 1, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161276172
- GRCh38:
- Chr1:161306382
| MPZ | | Charcot-Marie-Tooth disease, not provided | Likely benign
(May 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161275665
- GRCh38:
- Chr1:161305875
| MPZ | R250W | Charcot-Marie-Tooth disease | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr1:161277108
- GRCh38:
- Chr1:161307318
| MPZ | | Charcot-Marie-Tooth disease | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr1:161277133
- GRCh38:
- Chr1:161307343
| MPZ | C50S | Charcot-Marie-Tooth disease | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:161276600
- GRCh38:
- Chr1:161306810
| MPZ | N116Y | Charcot-Marie-Tooth disease | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:161277074
- GRCh38:
- Chr1:161307284
| MPZ | P70T | Charcot-Marie-Tooth disease | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:161275754
- GRCh38:
- Chr1:161305964
| MPZ | Y220C | Charcot-Marie-Tooth disease | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:161275931
- GRCh38:
- Chr1:161306141
| MPZ | K204N | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, type I | Uncertain significance
(Oct 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161276134
- GRCh38:
- Chr1:161306344
| MPZ | L190P | Charcot-Marie-Tooth disease | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:161276627
- GRCh38:
- Chr1:161306837
| MPZ | W107R | Charcot-Marie-Tooth disease | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:12069697-12069705
- GRCh38:
- Chr1:12009640-12009648
| MFN2 | | Charcot-Marie-Tooth disease | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:12058919
- GRCh38:
- Chr1:11998862
| MFN2 | S231C | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2 | Conflicting interpretations of pathogenicity
(Aug 28, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:12059138
- GRCh38:
- Chr1:11999081
| MFN2 | E268K | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2 | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12059132
- GRCh38:
- Chr1:11999075
| MFN2 | E266K | Charcot-Marie-Tooth disease, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
| Uncertain significance
(Dec 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12049384
- GRCh38:
- Chr1:11989327
| MFN2 | S53R | Charcot-Marie-Tooth disease | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:12064874
- GRCh38:
- Chr1:12004817
| MFN2 | | Charcot-Marie-Tooth disease | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:12052698
- GRCh38:
- Chr1:11992641
| MFN2 | I88V | Charcot-Marie-Tooth disease | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:12052609
- GRCh38:
- Chr1:11992552
| MFN2 | | Charcot-Marie-Tooth disease | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:12064977
- GRCh38:
- Chr1:12004920
| MFN2 | D496E | not provided, Charcot-Marie-Tooth disease | Uncertain significance
(Apr 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12059093
- GRCh38:
- Chr1:11999036
| MFN2 | I253F | Charcot-Marie-Tooth disease | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:12061587
- GRCh38:
- Chr1:12001530
| MFN2 | K316E | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2 | Uncertain significance
(Oct 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12069672
- GRCh38:
- Chr1:12009615
| MFN2 | H698R | Charcot-Marie-Tooth disease | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:12069750
- GRCh38:
- Chr1:12009693
| MFN2 | L724R | Charcot-Marie-Tooth disease | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr19:50338354
- GRCh38:
- Chr19:49835097
| MED25 | G532S | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2 | Uncertain significance
(Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:50333074
- GRCh38:
- Chr19:49829817
| MED25 | R186Q | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2 | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:50321827
- GRCh38:
- Chr19:49818570
| MED25 | | Charcot-Marie-Tooth disease | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr12:57892073
- GRCh38:
- Chr12:57498290
| MARS1 | | Charcot-Marie-Tooth disease, not provided, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency,
Charcot-Marie-Tooth disease axonal type 2U | Benign/Likely benign
(Jul 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:57910206
- GRCh38:
- Chr12:57516423
| MARS1 | | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U, Charcot-Marie-Tooth disease
| Benign/Likely benign
(Aug 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:130253511
- GRCh38:
- Chr9:127491232
| LRSAM1 | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2P | Likely benign
(Aug 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:130258394
- GRCh38:
- Chr9:127496115
| LRSAM1 | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2P | Likely benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:130255095
- GRCh38:
- Chr9:127492816
| LRSAM1 | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2P | Likely benign
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:130255158
- GRCh38:
- Chr9:127492879
| LRSAM1 | | Charcot-Marie-Tooth disease | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr9:130263438
- GRCh38:
- Chr9:127501159
| LRSAM1 | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2P | Likely benign
(Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:130221273
- GRCh38:
- Chr9:127458994
| LRSAM1 | | Charcot-Marie-Tooth disease | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr9:130242206
- GRCh38:
- Chr9:127479927
| LRSAM1 | T331M, T68M | Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2P
| Uncertain significance
(Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:130248053
- GRCh38:
- Chr9:127485774
| LRSAM1 | R400W, R137W | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2P | Uncertain significance
(May 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:11647561
- GRCh38:
- Chr16:11553705
| LITAF | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1C | Likely benign
(Jun 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:11647386
- GRCh38:
- Chr16:11553530
| LITAF | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1C | Likely benign
(May 29, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:11650388
- GRCh38:
- Chr16:11556532
| LITAF | P67S | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1C | Uncertain significance
(Sep 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:10351131
- GRCh38:
- Chr1:10291073
| KIF1B | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2 | Likely benign
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:10327630
- GRCh38:
- Chr1:10267572
| KIF1B | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2 | Likely benign
(Oct 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:10384135
- GRCh38:
- Chr1:10324077
| KIF1B | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2 | Likely benign
(Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:10318619
- GRCh38:
- Chr1:10258561
| KIF1B | | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Hereditary cancer-predisposing syndrome
| Likely benign
(May 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:10436587
- GRCh38:
- Chr1:10376529
| KIF1B | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2 | Likely benign
(Aug 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:10357051
- GRCh38:
- Chr1:10296993
| KIF1B | P607H, P653H | Charcot-Marie-Tooth disease, Hereditary cancer-predisposing syndrome | Uncertain significance
(Dec 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:10397231
- GRCh38:
- Chr1:10337173
| KIF1B | P1031S, P1077S | Charcot-Marie-Tooth disease, Hereditary cancer-predisposing syndrome | Uncertain significance
(Mar 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:10357036-10357038
- GRCh38:
- Chr1:10296978-10296980
| KIF1B | S603del, S649del | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Hereditary cancer-predisposing syndrome
| Uncertain significance
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:10434393
- GRCh38:
- Chr1:10374335
| KIF1B | R1610W, R1656W | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Hereditary cancer-predisposing syndrome
| Uncertain significance
(Jun 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:10435046
- GRCh38:
- Chr1:10374988
| KIF1B | I1698T, I1744T | Charcot-Marie-Tooth disease, Hereditary cancer-predisposing syndrome | Uncertain significance
(Jun 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:10336363
- GRCh38:
- Chr1:10276305
| KIF1B | | Charcot-Marie-Tooth disease | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:10342584
- GRCh38:
- Chr1:10282526
| KIF1B | R430L, R476L | Charcot-Marie-Tooth disease | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:10435355
- GRCh38:
- Chr1:10375297
| KIF1B | L1732V, L1778V | Charcot-Marie-Tooth disease, Hereditary cancer-predisposing syndrome | Uncertain significance
(Feb 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:68704018
- GRCh38:
- Chr11:68936550
| IGHMBP2 | | Charcot-Marie-Tooth disease | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr11:68701914-68701917
- GRCh38:
- Chr11:68934446-68934449
| IGHMBP2, LOC126861245 | | Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease
| Likely benign
(Sep 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:68707217
- GRCh38:
- Chr11:68939749
| IGHMBP2 | | Charcot-Marie-Tooth disease | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr11:68675989
- GRCh38:
- Chr11:68908521
| IGHMBP2 | | Charcot-Marie-Tooth disease | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr11:68696632
- GRCh38:
- Chr11:68929164
| IGHMBP2 | | Charcot-Marie-Tooth disease | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr11:68675762
- GRCh38:
- Chr11:68908294
| IGHMBP2 | | Charcot-Marie-Tooth disease | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr11:68678889
- GRCh38:
- Chr11:68911421
| IGHMBP2 | | Charcot-Marie-Tooth disease | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr7:75933122
- GRCh38:
- Chr7:76303805
| HSPB1 | K123T | Charcot-Marie-Tooth disease | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr7:75932182
- GRCh38:
- Chr7:76302865
| HSPB1 | W51* | Charcot-Marie-Tooth disease axonal type 2F, not provided, Charcot-Marie-Tooth disease
| Conflicting interpretations of pathogenicity
(Sep 5, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:75932264
- GRCh38:
- Chr7:76302947
| HSPB1 | R79W | Charcot-Marie-Tooth disease | Benign | criteria provided, single submitter |
| - GRCh37:
- ChrX:70444427
- GRCh38:
- ChrX:71224577
| GJB1 | | Charcot-Marie-Tooth disease | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr7:30634524
- GRCh38:
- Chr7:30594908
| GARS1 | | Charcot-Marie-Tooth disease | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr7:30655498
- GRCh38:
- Chr7:30615882
| GARS1 | | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease | Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:30634666
- GRCh38:
- Chr7:30595050
| GARS1 | | Charcot-Marie-Tooth disease | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr7:30638471
- GRCh38:
- Chr7:30598855
| GARS1 | | Charcot-Marie-Tooth disease | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr7:30668301
- GRCh38:
- Chr7:30628685
| GARS1 | | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease | Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:30673462
- GRCh38:
- Chr7:30633846
| GARS1 | T682P, T736P | Charcot-Marie-Tooth disease | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr7:30661078
- GRCh38:
- Chr7:30621462
| GARS1 | K423E, K477E | Charcot-Marie-Tooth disease | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr7:30661075
- GRCh38:
- Chr7:30621459
| GARS1 | T422S, T476S | Charcot-Marie-Tooth disease | Uncertain significance | criteria provided, single submitter |
| - 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:
- Chr12:110222230
- GRCh38:
- Chr12:109784425
| TRPV4 | | Charcot-Marie-Tooth disease | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr12:110236399-110236400
- GRCh38:
- Chr12:109798594-109798595
| TRPV4 | | Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease | Benign/Likely benign
(Mar 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110221432
- GRCh38:
- Chr12:109783627
| TRPV4 | | Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease | Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110226256
- GRCh38:
- Chr12:109788451
| TRPV4 | | Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease, not provided
| Likely benign
(Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110246264
- GRCh38:
- Chr12:109808459
| TRPV4 | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2C | Likely benign
(Feb 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110230443
- GRCh38:
- Chr12:109792638
| TRPV4 | | Charcot-Marie-Tooth disease | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr12:32772706
- GRCh38:
- Chr12:32619772
| FGD4 | | Charcot-Marie-Tooth disease | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr12:32772815
- GRCh38:
- Chr12:32619881
| FGD4 | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4 | Likely benign
(Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32793386
- GRCh38:
- Chr12:32640452
| FGD4 | | Charcot-Marie-Tooth disease | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr12:32755082
- GRCh38:
- Chr12:32602148
| FGD4 | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4 | Likely benign
(Oct 28, 2021) | criteria provided, multiple submitters, no conflicts |