| - GRCh37:
- Chr1:116937872-116937873
- GRCh38:
- Chr1:116395250-116395251
| ATP1A1, ATP1A1-AS1 | D570F, D601F | Charcot-Marie-Tooth disease type 2A2 | Uncertain significance
(Oct 7, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr1:12059060
- GRCh38:
- Chr1:11999003
| MFN2 | H242Y | Charcot-Marie-Tooth disease type 2A2 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr1:116937860
- GRCh38:
- Chr1:116395238
| ATP1A1, ATP1A1-AS1 | A566T, A597T | Charcot-marie-tooth disease, axonal, type 2DD, Charcot-Marie-Tooth disease type 2A2 | Conflicting interpretations of pathogenicity
(Oct 7, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr1:12058932
- GRCh38:
- Chr1:11998875
| MFN2 | Q235H | Charcot-Marie-Tooth disease type 2A2 | Pathogenic
(Mar 21, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr1:12071577
- GRCh38:
- Chr1:12011520
| MFN2 | S743R | Charcot-Marie-Tooth disease type 2A2, Neuropathy, hereditary motor and sensory, type 6A | Uncertain significance
(May 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12064663
- GRCh38:
- Chr1:12004606
| MFN2 | Y462C | Neuropathy, hereditary motor and sensory, type 6A, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, Charcot-Marie-Tooth disease type 2,
Charcot-Marie-Tooth disease type 2A2 | Uncertain significance
(Dec 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - 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:
- Chr1:12058922
- GRCh38:
- Chr1:11998865
| MFN2 | T232S | Charcot-Marie-Tooth disease type 2A2 | Likely pathogenic
(Oct 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12059117
- GRCh38:
- Chr1:11999060
| MFN2 | D261H | Charcot-Marie-Tooth disease type 2A2 | Uncertain significance
(Oct 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12059082
- GRCh38:
- Chr1:11999025
| MFN2 | S249C | Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2 | Likely pathogenic
(Dec 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12066700
- GRCh38:
- Chr1:12006643
| MFN2 | A608T | Charcot-Marie-Tooth disease type 2A2 | Uncertain significance
(Apr 1, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr1:12057394
- GRCh38:
- Chr1:11997337
| MFN2 | Q172R | Charcot-Marie-Tooth disease type 2A2 | Uncertain significance
(Jun 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12064925
- GRCh38:
- Chr1:12004868
| MFN2 | S479C | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2 | Uncertain significance
(Apr 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12058928
- GRCh38:
- Chr1:11998871
| MFN2 | M234K | Charcot-Marie-Tooth disease type 2A2 | Likely pathogenic
(Oct 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12061560
- GRCh38:
- Chr1:12001503
| MFN2 | K307E | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2 | Conflicting interpretations of pathogenicity
(Sep 17, 2021) | 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:
- Chr1:12061521
- GRCh38:
- Chr1:12001464
| MFN2 | R294* | Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2 | Pathogenic/Likely pathogenic
(Sep 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12058885
- GRCh38:
- Chr1:11998828
| MFN2 | A220T | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2 | Pathogenic/Likely pathogenic
(Oct 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12058894
- GRCh38:
- Chr1:11998837
| MFN2 | F223L | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2 | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:12064570
- GRCh38:
- Chr1:12004513
| MFN2 | S431L | Charcot-Marie-Tooth disease type 2, not provided | Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12062091
- GRCh38:
- Chr1:12002034
| MFN2 | R364L | Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2 | Likely pathogenic
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12061480
- GRCh38:
- Chr1:12001423
| MFN2 | R280P | Charcot-Marie-Tooth disease type 2A2 | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12058865
- GRCh38:
- Chr1:11998808
| MFN2 | I213N | Charcot-Marie-Tooth disease type 2A2 | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12058843
- GRCh38:
- Chr1:11998786
| MFN2 | T206A | Charcot-Marie-Tooth disease type 2A2 | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12052722
- GRCh38:
- Chr1:11992665
| MFN2 | H96N | Charcot-Marie-Tooth disease type 2A2 | Uncertain significance
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12049244
- GRCh38:
- Chr1:11989187
| MFN2 | R7* | Charcot-Marie-Tooth disease type 2A2 | Uncertain significance
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12058922
- GRCh38:
- Chr1:11998865
| MFN2 | T232N | Charcot-Marie-Tooth disease type 2 | Uncertain significance
(Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12071605-12071606
- GRCh38:
- Chr1:12011548-12011549
| MFN2 | Q754fs | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2
| Conflicting interpretations of pathogenicity
(Aug 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:12071561
- GRCh38:
- Chr1:12011504
| MFN2 | A738V | Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2 | Pathogenic
(Aug 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12064087
- GRCh38:
- Chr1:12004030
| MFN2 | R400P | Charcot-Marie-Tooth disease type 2A2 | Uncertain significance
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12069708
- GRCh38:
- Chr1:12009651
| MFN2 | L710P | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2 | Pathogenic/Likely pathogenic
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12057376
- GRCh38:
- Chr1:11997319
| MFN2 | A166V | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2 | Pathogenic/Likely pathogenic
(Feb 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12071599
- GRCh38:
- Chr1:12011542
| MFN2 | Q751* | Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2 | Pathogenic
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12062091
- GRCh38:
- Chr1:12002034
| MFN2 | R364P | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2 | Pathogenic
(Jan 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12058851
- GRCh38:
- Chr1:11998794
| MFN2 | E208D | not specified, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2,
not provided | Uncertain significance
(May 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:116941690
- GRCh38:
- Chr1:116399068
| ATP1A1, ATP1A1-AS1 | D811A, D780A | Charcot-marie-tooth disease, axonal, type 2DD, Charcot-Marie-Tooth disease type 2A2 | Conflicting interpretations of pathogenicity
(Jun 28, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr1:116937846
- GRCh38:
- Chr1:116395224
| ATP1A1-AS1, ATP1A1 | I592T, I561T | not provided | Pathogenic
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:116937869
- GRCh38:
- Chr1:116395247
| ATP1A1-AS1, ATP1A1 | P600T, P569T | not provided | Likely pathogenic
(Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:116937869
- GRCh38:
- Chr1:116395247
| ATP1A1, ATP1A1-AS1 | P600A, P569A | Charcot-marie-tooth disease, axonal, type 2DD | Pathogenic
(Apr 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:116927424
- GRCh38:
- Chr1:116384802
| ATP1A1 | L48R, L17R | not provided | Pathogenic
(Mar 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12064915
- GRCh38:
- Chr1:12004858
| MFN2 | R476G | Charcot-Marie-Tooth disease type 2A2 | Likely pathogenic
(Dec 18, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12065827
- GRCh38:
- Chr1:12005770
| MFN2 | R519C | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2 | Conflicting interpretations of pathogenicity
(Jun 4, 2022) | criteria provided, conflicting interpretations |
| - 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:
- Chr1:12057443
- GRCh38:
- Chr1:11997386
| MFN2 | | Inborn genetic diseases, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, Charcot-Marie-Tooth disease type 2A2,
Neuropathy, hereditary motor and sensory, type 6A, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2,
not specified | Benign/Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12058880
- GRCh38:
- Chr1:11998823
| MFN2 | L218P | Charcot-Marie-Tooth disease type 2, not provided, Charcot-Marie-Tooth disease type 2A2
| Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:12057405
- GRCh38:
- Chr1:11997348
| MFN2 | G176S | Charcot-Marie-Tooth disease type 2A2 | Likely pathogenic
(Aug 18, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12057358
- GRCh38:
- Chr1:11997301
| MFN2 | V160G | Charcot-Marie-Tooth disease type 2A2 | Likely pathogenic
(Aug 18, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12067183
- GRCh38:
- Chr1:12007126
| MFN2 | R649P | Charcot-Marie-Tooth disease type 2A2 | Likely pathogenic
(Aug 18, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12059066
- GRCh38:
- Chr1:11999009
| MFN2 | V244M | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2 | Pathogenic
(Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12059066
- GRCh38:
- Chr1:11999009
| MFN2 | V244L | Charcot-Marie-Tooth disease type 2A2 | Pathogenic
(Sep 17, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12058934
- GRCh38:
- Chr1:11998877
| MFN2 | T236M | Charcot-Marie-Tooth disease type 2, not provided, Charcot-Marie-Tooth disease type 2A2,
Peripheral axonal neuropathy, Distal muscle weakness, Distal lower limb amyotrophy
| Conflicting interpretations of pathogenicity
(Sep 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:12057373
- GRCh38:
- Chr1:11997316
| MFN2 | H165R | not provided, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2
| Pathogenic
(Sep 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12056337
- GRCh38:
- Chr1:11996280
| MFN2 | L146F | Charcot-Marie-Tooth disease type 2, not provided, Charcot-Marie-Tooth disease type 2A2
| Pathogenic/Likely pathogenic
(Jul 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12071604
- GRCh38:
- Chr1:12011547
| MFN2 | Y752* | not provided, Charcot-Marie-Tooth disease type 2A2 | Pathogenic
(Jul 1, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12062126
- GRCh38:
- Chr1:12002069
| MFN2 | M376V | Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2A2,
not provided | Pathogenic/Likely pathogenic
(Jul 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12056215
- GRCh38:
- Chr1:11996158
| MFN2 | T105M | Cerebellar ataxia, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2,
not provided | Pathogenic/Likely pathogenic
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12067224
- GRCh38:
- Chr1:12007167
| MFN2 | R663C | Inborn genetic diseases, Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy,
Charcot-Marie-Tooth disease type 2A2, not provided | Conflicting interpretations of pathogenicity
(Dec 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:12059082
- GRCh38:
- Chr1:11999025
| MFN2 | S249F | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2 | Pathogenic/Likely pathogenic
(Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12061533
- GRCh38:
- Chr1:12001476
| MFN2 | G298R | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, Charcot-Marie-Tooth disease type 2A2, Neuropathy, hereditary motor and sensory, type 6A,
Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2,
not specified, not provided, Charcot-Marie-Tooth disease type 2A2,
Hereditary motor and sensory neuropathy with optic atrophy | Benign/Likely benign
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12059111
- GRCh38:
- Chr1:11999054
| MFN2 | R259C | Charcot-Marie-Tooth disease type 2, not provided, Inborn genetic diseases,
Charcot-Marie-Tooth disease | Pathogenic/Likely pathogenic
(Apr 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12049390
- GRCh38:
- Chr1:11989333
| MFN2 | | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, Charcot-Marie-Tooth disease type 2A2, 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 | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12069692
- GRCh38:
- Chr1:12009635
| MFN2 | V705I | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, Neuropathy, hereditary motor and sensory, type 6A, Charcot-Marie-Tooth disease type 2A2,
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, not provided,
not specified, Hereditary motor and sensory neuropathy with optic atrophy | Benign/Likely benign
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12056309
- GRCh38:
- Chr1:11996252
| MFN2 | | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, Charcot-Marie-Tooth disease type 2A2, 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 | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12062085
- GRCh38:
- Chr1:12002028
| MFN2 | T362M | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, Inborn genetic diseases, Charcot-Marie-Tooth disease,
Charcot-Marie-Tooth disease type 2, not provided, Charcot-Marie-Tooth disease type 2A2,
Hereditary motor and sensory neuropathy with optic atrophy | Pathogenic/Likely pathogenic
(Aug 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12064672
- GRCh38:
- Chr1:12004615
| MFN2 | | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2A2 | Conflicting interpretations of pathogenicity
(Jun 8, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr1:12064892
- GRCh38:
- Chr1:12004835
| MFN2 | R468H | Inborn genetic diseases, 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, Tip-toe gait | Conflicting interpretations of pathogenicity
(Aug 22, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:12052746
- GRCh38:
- Chr1:11992689
| MFN2 | R104W | Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;,
Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2,
not provided, Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2A2
| Pathogenic
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12069698
- GRCh38:
- Chr1:12009641
| MFN2 | R707W | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, Neuropathy, hereditary motor and sensory, type 6A, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;,
Neuropathy, hereditary motor and sensory, type 6A, Charcot-Marie-Tooth disease type 2A2, MFN2-Related Disorders,
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2,
Inborn genetic diseases, not providedCharcot-Marie-Tooth disease type 2A2,
Charcot-Marie-Tooth disease, Peripheral axonal neuropathy, ...see more | Pathogenic/Likely pathogenic
(Apr 19, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12062090
- GRCh38:
- Chr1:12002033
| MFN2 | R364W | Charcot-Marie-Tooth disease type 2, not provided, Charcot-Marie-Tooth disease type 2A2,
Hereditary motor and sensory neuropathy with optic atrophy | Pathogenic
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12061468
- GRCh38:
- Chr1:12001411
| MFN2 | Q276R | Inborn genetic diseases, Charcot-Marie-Tooth disease type 2A2 | Conflicting interpretations of pathogenicity
(Apr 20, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:12052716
- GRCh38:
- Chr1:11992659
| MFN2 | R94W | Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2,
not provided, Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2A2,
Microcephaly, Abnormality of the dentition, Abnormal dental enamel morphology,
Abnormal blistering of the skin, Decreased body weightScarring alopecia of scalp,
Distal muscle weakness, Nail dystrophy, EMG abnormality,
Alopecia of scalp, Hyperpigmentation of the skin, Scarring,
Short stature, Failure to thrive, ...see more | Pathogenic
(Feb 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12057372
- GRCh38:
- Chr1:11997315
| MFN2 | H165D | Charcot-Marie-Tooth disease type 2 | Pathogenic
(Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12062071
- GRCh38:
- Chr1:12002014
| MFN2 | K357N | Charcot-Marie-Tooth disease type 2 | Pathogenic
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12052641
- GRCh38:
- Chr1:11992584
| MFN2 | V69F | Charcot-Marie-Tooth disease type 2A2 | Pathogenic
(May 11, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr1:12059087
- GRCh38:
- Chr1:11999030
| MFN2 | P251A | Charcot-Marie-Tooth disease | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr1:12061480
- GRCh38:
- Chr1:12001423
| MFN2 | R280H | Neuropathy, hereditary motor and sensory, type 6A, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2,
not provided, Charcot-Marie-Tooth disease type 2A2, Peripheral neuropathy
| Pathogenic
(Mar 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12052663
- GRCh38:
- Chr1:11992606
| MFN2 | L76P | Charcot-Marie-Tooth disease type 2, not provided | Pathogenic
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12071567
- GRCh38:
- Chr1:12011510
| MFN2 | W740S | MFN2-Related Disorders, Inborn genetic diseases, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;,
Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2,
not specified, not provided, Charcot-Marie-Tooth disease type 2A2
| Pathogenic/Likely pathogenic
(Aug 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:12052717
- GRCh38:
- Chr1:11992660
| MFN2 | R94Q | Charcot-Marie-Tooth disease type 2, not provided, Charcot-Marie-Tooth disease type 2A2
| Pathogenic
(Jan 1, 2023) | criteria provided, multiple submitters, no conflicts |