| - GRCh37:
- Chr1:12058633-12059409
| MFN2 | | Charcot-Marie-Tooth disease type 2A2, Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
| not provided | no assertion provided |
| - GRCh37:
- Chr12:123738236-123738239
- GRCh38:
- Chr12:123253689-123253692
| MTRFR | L6fs | Hereditary motor and sensory neuropathy with optic atrophy | Likely pathogenic
(Dec 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12066655
- GRCh38:
- Chr1:12006598
| MFN2 | S593T | Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2 | Uncertain significance
(Feb 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12073452
- GRCh38:
- Chr1:12013395
| MFN2 | | Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12073385
- GRCh38:
- Chr1:12013328
| MFN2 | | Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12073284
- GRCh38:
- Chr1:12013227
| MFN2 | | Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12072676
- GRCh38:
- Chr1:12012619
| MFN2 | | Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12071926
- GRCh38:
- Chr1:12011869
| MFN2 | | Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12040309
- GRCh38:
- Chr1:11980252
| LOC129929423, MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12072656
- GRCh38:
- Chr1:12012599
| MFN2 | | Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12071848
- GRCh38:
- Chr1:12011791
| MFN2 | | Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12071753
- GRCh38:
- Chr1:12011696
| MFN2 | | Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12067175
- GRCh38:
- Chr1:12007118
| MFN2 | | Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12042096
- GRCh38:
- Chr1:11982039
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12040223
- GRCh38:
- Chr1:11980166
| LOC129929423, MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12073157
- GRCh38:
- Chr1:12013100
| MFN2 | | Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12072435
- GRCh38:
- Chr1:12012378
| MFN2 | | Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2 | Uncertain significance
(Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12071648
- GRCh38:
- Chr1:12011591
| MFN2 | | Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2 | Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12071559
- GRCh38:
- Chr1:12011502
| MFN2 | | Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2 | Uncertain significance
(Feb 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12065996
- GRCh38:
- Chr1:12005939
| LOC129929426, MFN2 | | Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12065903
- GRCh38:
- Chr1:12005846
| MFN2 | H544R | Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12073524
- GRCh38:
- Chr1:12013467
| MFN2 | | Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12072844
- GRCh38:
- Chr1:12012787
| MFN2 | | Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12072003
- GRCh38:
- Chr1:12011946
| MFN2 | | Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12069796
- GRCh38:
- Chr1:12009739
| MFN2 | | Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2 | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:12052707
- GRCh38:
- Chr1:11992650
| MFN2 | V91M | Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, Neuropathy, hereditary motor and sensory, type 6A,
Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Uncertain significance
(May 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12052641
- GRCh38:
- Chr1:11992584
| MFN2 | V69I | Hereditary motor and sensory neuropathy with optic atrophy, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
| Conflicting interpretations of pathogenicity
(Jul 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:12040332
- GRCh38:
- Chr1:11980275
| LOC129929423, MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12065783
- GRCh38:
- Chr1:12005726
| MFN2 | L504P | Charcot-Marie-Tooth disease type 2 | Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12066736
- GRCh38:
- Chr1:12006679
| MFN2 | V620I | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Uncertain significance
(Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12052605
- GRCh38:
- Chr1:11992548
| MFN2 | | not specified, Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy
| Benign/Likely benign
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12066715-12066716
- GRCh38:
- Chr1:12006658-12006659
| MFN2 | T614fs | Hereditary motor and sensory neuropathy with optic atrophy | Likely pathogenic
(Dec 9, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12062143-12062145
- GRCh38:
- Chr1:12002086-12002088
| MFN2 | A383del | not provided, Charcot-Marie-Tooth disease type 2A2, Hereditary motor and sensory neuropathy with optic atrophy,
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | Uncertain significance
(Feb 18, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12059056
- GRCh38:
- Chr1:11998999
| MFN2 | F240L | Hereditary motor and sensory neuropathy with optic atrophy | Likely pathogenic
(Dec 6, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12057401
- GRCh38:
- Chr1:11997344
| MFN2 | | not provided, Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2,
Inborn genetic diseases | Benign/Likely benign
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12069736
- GRCh38:
- Chr1:12009679
| MFN2 | | Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2,
Hereditary motor and sensory neuropathy with optic atrophy, not provided | Conflicting interpretations of pathogenicity
(Sep 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:12064140
- GRCh38:
- Chr1:12004083
| MFN2 | R418* | Charcot-Marie-Tooth disease type 2, not provided, Hereditary motor and sensory neuropathy with optic atrophy
| Pathogenic/Likely pathogenic
(Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12073328
- GRCh38:
- Chr1:12013271
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Benign/Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12073198
- GRCh38:
- Chr1:12013141
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12073184
- GRCh38:
- Chr1:12013127
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12073168
- GRCh38:
- Chr1:12013111
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12073161
- GRCh38:
- Chr1:12013104
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12073110
- GRCh38:
- Chr1:12013053
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12073014
- GRCh38:
- Chr1:12012957
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12072917
- GRCh38:
- Chr1:12012860
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12072898
- GRCh38:
- Chr1:12012841
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12072880
- GRCh38:
- Chr1:12012823
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12072783
- GRCh38:
- Chr1:12012726
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12072775
- GRCh38:
- Chr1:12012718
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12072722
- GRCh38:
- Chr1:12012665
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12072690
- GRCh38:
- Chr1:12012633
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12072568
- GRCh38:
- Chr1:12012511
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12072534
- GRCh38:
- Chr1:12012477
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12072518
- GRCh38:
- Chr1:12012461
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12072492
- GRCh38:
- Chr1:12012435
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12072486
- GRCh38:
- Chr1:12012429
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12072399
- GRCh38:
- Chr1:12012342
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12072352
- GRCh38:
- Chr1:12012295
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12072035
- GRCh38:
- Chr1:12011978
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12071919
- GRCh38:
- Chr1:12011862
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12071878
- GRCh38:
- Chr1:12011821
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12071853
- GRCh38:
- Chr1:12011796
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12071680
- GRCh38:
- Chr1:12011623
| MFN2 | | Charcot-Marie-Tooth disease type 2, not provided, Hereditary motor and sensory neuropathy with optic atrophy,
not specified | Benign
(Aug 17, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12071679
- GRCh38:
- Chr1:12011622
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12071658
- GRCh38:
- Chr1:12011601
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12069724
- GRCh38:
- Chr1:12009667
| MFN2 | | Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Hereditary motor and sensory neuropathy with optic atrophy
| Conflicting interpretations of pathogenicity
(Aug 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:12067187
- GRCh38:
- Chr1:12007130
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy, Inborn genetic diseases
| Benign/Likely benign
(Aug 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12066696
- GRCh38:
- Chr1:12006639
| MFN2 | | Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Hereditary motor and sensory neuropathy with optic atrophy
| Likely benign
(Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12065931
- GRCh38:
- Chr1:12005874
| LOC129929426, MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12064157
- GRCh38:
- Chr1:12004100
| MFN2 | | Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease,
Hereditary motor and sensory neuropathy with optic atrophy | Conflicting interpretations of pathogenicity
(Oct 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:12061532
- GRCh38:
- Chr1:12001475
| MFN2 | | Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2,
not specified, Inborn genetic diseases, not provided
| Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12056379
- GRCh38:
- Chr1:11996322
| MFN2 | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy
| Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:12049378
- GRCh38:
- Chr1:11989321
| MFN2 | Q51H | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12049209
- GRCh38:
- Chr1:11989152
| MFN2 | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, not provided,
Hereditary motor and sensory neuropathy with optic atrophy | Benign/Likely benign
(Apr 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12040530
- GRCh38:
- Chr1:11980473
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy, not specified
| Benign/Likely benign
(Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12040479
- GRCh38:
- Chr1:11980422
| MFN2, PLOD1 | | Hereditary motor and sensory neuropathy, Charcot-Marie-Tooth disease type 2, not provided,
Hereditary motor and sensory neuropathy with optic atrophy, Ehlers-Danlos syndrome, kyphoscoliotic type 1 | Benign
(Jun 29, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12040474
- GRCh38:
- Chr1:11980417
| MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12040442
- GRCh38:
- Chr1:11980385
| MFN2 | | Hereditary motor and sensory neuropathy, not provided, Charcot-Marie-Tooth disease type 2,
Hereditary motor and sensory neuropathy with optic atrophy | Benign/Likely benign
(Dec 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12040404
- GRCh38:
- Chr1:11980347
| MFN2 | | Hereditary motor and sensory neuropathy, Charcot-Marie-Tooth disease type 2, not provided,
Hereditary motor and sensory neuropathy with optic atrophy | Benign/Likely benign
(Dec 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12040363
- GRCh38:
- Chr1:11980306
| LOC129929423, MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12040347
- GRCh38:
- Chr1:11980290
| LOC129929423, MFN2 | | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12040324
- GRCh38:
- Chr1:11980267
| LOC129929423, MFN2, PLOD1 | | Hereditary motor and sensory neuropathy, not provided, Charcot-Marie-Tooth disease type 2,
Hereditary motor and sensory neuropathy with optic atrophy, Ehlers-Danlos syndrome, kyphoscoliotic type 1 | Benign
(Jun 29, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12052615
- GRCh38:
- Chr1:11992558
| MFN2 | T60M | not provided, Inborn genetic diseases, Hereditary motor and sensory neuropathy with optic atrophy,
Charcot-Marie-Tooth disease type 2 | Conflicting interpretations of pathogenicity
(Oct 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:12067183
- GRCh38:
- Chr1:12007126
| MFN2 | R649H | Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2 | Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12067157
- GRCh38:
- Chr1:12007100
| MFN2 | | Charcot-Marie-Tooth disease, not provided, Hereditary motor and sensory neuropathy with optic atrophy,
not specified, Charcot-Marie-Tooth disease type 2 | Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:12062126
- GRCh38:
- Chr1:12002069
| MFN2 | M376V | not provided, Charcot-Marie-Tooth disease type 2A2, Inborn genetic diseases,
Charcot-Marie-Tooth disease type 2 | Pathogenic/Likely pathogenic
(Jul 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12064993
- GRCh38:
- Chr1:12004936
| MFN2 | | not provided, Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease,
Charcot-Marie-Tooth disease type 2, not specified | Benign/Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12049283
- GRCh38:
- Chr1:11989226
| MFN2 | H20Y | Inborn genetic diseases, Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease,
Charcot-Marie-Tooth disease type 2, not provided | Conflicting interpretations of pathogenicity
(Oct 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:12069725
- GRCh38:
- Chr1:12009668
| MFN2 | A716T | Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2,
not provided, Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:12067224
- GRCh38:
- Chr1:12007167
| MFN2 | R663C | Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2A2, not provided,
Inborn genetic diseases, Charcot-Marie-Tooth disease type 2 | Conflicting interpretations of pathogenicity
(Dec 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:12061539
- GRCh38:
- Chr1:12001482
| MFN2 | R300C | Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy, not provided
| Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:12061483
- GRCh38:
- Chr1:12001426
| MFN2 | C281S | Hereditary motor and sensory neuropathy with optic atrophy, Inborn genetic diseases, Charcot-Marie-Tooth disease,
not specified, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, Charcot-Marie-Tooth disease type 2,
not provided | Conflicting interpretations of pathogenicity
(Aug 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:12049384
- GRCh38:
- Chr1:11989327
| MFN2 | | Charcot-Marie-Tooth disease, Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2,
not specified, not provided | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12071540
- GRCh38:
- Chr1:12011483
| MFN2 | | Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2,
not specified, not provided | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12066684
- GRCh38:
- Chr1:12006627
| MFN2 | | Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy,
Charcot-Marie-Tooth disease, not specified | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12061533
- GRCh38:
- Chr1:12001476
| MFN2 | G298R | Inborn genetic diseases, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;,
Neuropathy, hereditary motor and sensory, type 6A, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2,
not specified, not provided, Hereditary motor and sensory neuropathy with optic atrophy,
Charcot-Marie-Tooth disease type 2A2 | Benign/Likely benign
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12059092
- GRCh38:
- Chr1:11999035
| MFN2 | | Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease,
not specified, not provided, Hereditary motor and sensory neuropathy with optic atrophy
| Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:12064941
- GRCh38:
- Chr1:12004884
| MFN2 | | Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease,
not specified, not provided, Hereditary motor and sensory neuropathy with optic atrophy
| Benign/Likely benign
(Dec 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12061830
- GRCh38:
- Chr1:12001773
| MFN2 | | Charcot-Marie-Tooth disease type 2, not specified, Hereditary motor and sensory neuropathy with optic atrophy
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12049390
- GRCh38:
- Chr1:11989333
| MFN2 | | Neuropathy, hereditary motor and sensory, type 6A, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;,
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, not specified,
not provided, Hereditary motor and sensory neuropathy with optic atrophy | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |