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Links from MedGen

Items: 35

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr1:12069699
GRCh38:
Chr1:12009642
MFN2R707QNeuropathy, 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, not provided		Uncertain significance
(Jun 29, 2023)		criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr1:12056363-12056365
GRCh38:
Chr1:11996306-11996308
MFN2R155delCharcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, Inborn genetic diseasesUncertain significance
(Feb 4, 2021)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr1:12058796
GRCh38:
Chr1:11998739
MFN2Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;Pathogenic
(May 10, 2022)		criteria provided, single submitter
4.
GRCh37:
Chr1:12064663
GRCh38:
Chr1:12004606
MFN2Y462CCharcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, not specified, Charcot-Marie-Tooth disease type 2,
Charcot-Marie-Tooth disease type 2A2, Neuropathy, hereditary motor and sensory, type 6A		Uncertain significance
(Sep 6, 2023)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr1:12064141
GRCh38:
Chr1:12004084
MFN2R418QCharcot-Marie-Tooth disease type 2, Neuropathy, hereditary motor and sensory, type 6A, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;,
Charcot-Marie-Tooth disease type 2A2		Uncertain significance
(May 19, 2023)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr1:12058633-12059409
MFN2Charcot-Marie-Tooth disease type 2A2, Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
not providedno assertion provided
7.
GRCh37:
Chr1:12052707
GRCh38:
Chr1:11992650
MFN2V91MCharcot-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
8.
GRCh37:
Chr1:12067200
GRCh38:
Chr1:12007143
MFN2K655ECharcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;Uncertain significance
(Aug 1, 2019)		no assertion criteria provided
9.
GRCh37:
Chr1:12064570
GRCh38:
Chr1:12004513
MFN2S431Lnot provided, Charcot-Marie-Tooth disease type 2Uncertain significance
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr1:12056223
GRCh38:
Chr1:11996166
MFN2G108RCharcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, Charcot-Marie-Tooth diseaseConflicting interpretations of pathogenicity
(Jun 1, 2023)		no assertion criteria provided
11.
GRCh37:
Chr1:12071605-12071606
GRCh38:
Chr1:12011548-12011549
MFN2Q754fsCharcot-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
12.
GRCh37:
Chr1:12056235
GRCh38:
Chr1:11996178
MFN2V112MCharcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, Charcot-Marie-Tooth disease type 2, Peripheral neuropathy
Conflicting interpretations of pathogenicity
(Jun 20, 2022)		criteria provided, conflicting interpretations
13.
GRCh37:
Chr1:12052707
GRCh38:
Chr1:11992650
MFN2V91LCharcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, Charcot-Marie-Tooth disease type 2Conflicting interpretations of pathogenicity
(Dec 1, 2020)		criteria provided, conflicting interpretations
14.
GRCh37:
Chr1:12049379
GRCh38:
Chr1:11989322
MFN2E52KCharcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;Likely pathogenic
(Apr 25, 2018)		no assertion criteria provided
15.
GRCh37:
Chr1:12056305
GRCh38:
Chr1:11996248
MFN2R135QCharcot-Marie-Tooth disease type 2Uncertain significance
(Dec 14, 2021)		criteria provided, single submitter
16.
GRCh37:
Chr1:12057370
GRCh38:
Chr1:11997313
MFN2A164VCharcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;Uncertain significance
(Apr 16, 2018)		criteria provided, single submitter
17.
GRCh37:
Chr1:12062161
GRCh38:
Chr1:12002104
MFN2Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, Charcot-Marie-Tooth disease type 2Likely pathogenic
(Jan 30, 2023)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr1:12065783
GRCh38:
Chr1:12005726
MFN2L504PCharcot-Marie-Tooth disease type 2Uncertain significance
(Aug 31, 2021)		criteria provided, single submitter
19.
GRCh37:
Chr1:12062143-12062145
GRCh38:
Chr1:12002086-12002088
MFN2A383delnot 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
20.
GRCh37:
Chr1:12062101
GRCh38:
Chr1:12002044
MFN2Q367HCharcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2,
not specified		Conflicting interpretations of pathogenicity
(Aug 28, 2022)		criteria provided, conflicting interpretations
21.
GRCh37:
Chr1:12057443
GRCh38:
Chr1:11997386
MFN2Inborn 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
22.
GRCh37:
Chr1:12057405
GRCh38:
Chr1:11997348
MFN2G176SCharcot-Marie-Tooth disease type 2A2Likely pathogenic
(Aug 18, 2015)		criteria provided, single submitter
23.
GRCh37:
Chr1:12061483
GRCh38:
Chr1:12001426
MFN2C281SHereditary 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
24.
GRCh37:
Chr1:12061533
GRCh38:
Chr1:12001476
MFN2G298RInborn genetic diseases, Charcot-Marie-Tooth disease, not provided,
Charcot-Marie-Tooth disease type 2A2, Neuropathy, hereditary motor and sensory, type 6A, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;,
Charcot-Marie-Tooth disease type 2, not specified, 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
25.
GRCh37:
Chr1:12049390
GRCh38:
Chr1:11989333
MFN2Charcot-Marie-Tooth disease type 2A2, Neuropathy, hereditary motor and sensory, type 6A, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;,
Charcot-Marie-Tooth disease, not specified, Charcot-Marie-Tooth disease type 2,
not provided, Hereditary motor and sensory neuropathy with optic atrophy		Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr1:12069692
GRCh38:
Chr1:12009635
MFN2V705ICharcot-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
(May 1, 2023)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr1:12056309
GRCh38:
Chr1:11996252
MFN2Charcot-Marie-Tooth disease type 2A2, Neuropathy, hereditary motor and sensory, type 6A, 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
28.
GRCh37:
Chr1:12062085
GRCh38:
Chr1:12002028
MFN2T362MCharcot-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
29.
MFN2LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH AXONAL PERIPHERAL NEUROPATHY, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;Pathogenic
(Jul 12, 2011)		no assertion criteria provided
30.
GRCh37:
Chr1:12058874
GRCh38:
Chr1:11998817
MFN2F216SCharcot-Marie-Tooth disease type 2, not providedPathogenic
(Jul 6, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr1:12049331-12049333
GRCh38:
Chr1:11989274-11989276
MFN2K38delnot providedUncertain significance
(Apr 8, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr1:12052746
GRCh38:
Chr1:11992689
MFN2R104WCharcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2A2,
Neuropathy, hereditary motor and sensory, type 6A, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, Inborn genetic diseases,
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, not provided,
Charcot-Marie-Tooth disease type 2A2, Hereditary motor and sensory neuropathy with optic atrophy ...see more		Pathogenic
(Mar 13, 2023)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr1:12069698
GRCh38:
Chr1:12009641
MFN2R707WMFN2-related condition, Neuropathy, hereditary motor and sensory, type 6A, Charcot-Marie-Tooth disease type 2A2,
Neuropathy, hereditary motor and sensory, type 6A, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;,
MFN2-Related Disorders, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;,
Inborn genetic diseases, Charcot-Marie-Tooth disease type 2Charcot-Marie-Tooth disease,
not provided, Peripheral axonal neuropathy, Charcot-Marie-Tooth disease type 2A2,
...see more		Pathogenic/Likely pathogenic
(Apr 19, 2023)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr1:12071567
GRCh38:
Chr1:12011510
MFN2W740SMFN2-Related Disorders, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, Hereditary motor and sensory neuropathy with optic atrophy,
Charcot-Marie-Tooth disease type 2A2, Inborn genetic diseases, 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
35.
GRCh37:
Chr1:12052717
GRCh38:
Chr1:11992660
MFN2R94QCharcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, Neuropathy, hereditary motor and sensory, type 6A, Inborn genetic diseases,
Charcot-Marie-Tooth disease type 2, not provided, Charcot-Marie-Tooth disease type 2A2
Pathogenic
(Aug 15, 2023)		criteria provided, multiple submitters, no conflicts
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