U.S. flag

An official website of the United States government

Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 47

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr10:64573874
GRCh38:
Chr10:62814114
EGR2S125Y, S175Y, S188YCharcot-Marie-Tooth disease type 1DUncertain significancecriteria provided, single submitter
2.
GRCh37:
Chr10:64573208
GRCh38:
Chr10:62813448
EGR2P347H, P397H, P410HERG2-related disorders, Charcot-Marie-Tooth disease type 1DConflicting interpretations of pathogenicity
(Jun 30, 2020)		no assertion criteria provided
3.
GRCh37:
Chr10:64572888
GRCh38:
Chr10:62813128
EGR2Charcot-Marie-Tooth disease type 1DUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
4.
GRCh37:
Chr10:64572817
GRCh38:
Chr10:62813057
EGR2Charcot-Marie-Tooth disease type 1DUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
5.
GRCh37:
Chr10:64572737
GRCh38:
Chr10:62812977
EGR2Charcot-Marie-Tooth disease type 1DUncertain significance
(Jan 15, 2018)		criteria provided, single submitter
6.
GRCh37:
Chr10:64572349
GRCh38:
Chr10:62812589
EGR2Charcot-Marie-Tooth disease type 1DUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
7.
GRCh37:
Chr10:64576088
GRCh38:
Chr10:62816328
EGR2Charcot-Marie-Tooth disease type 1DUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
8.
GRCh37:
Chr10:64575853
GRCh38:
Chr10:62816093
EGR2Charcot-Marie-Tooth disease type 1DUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
9.
GRCh37:
Chr10:64574018
GRCh38:
Chr10:62814258
EGR2P127L, P77LDejerine-Sottas disease, Charcot-Marie-Tooth disease type 1DUncertain significance
(Apr 27, 2019)		criteria provided, single submitter
10.
GRCh37:
Chr10:64573257
GRCh38:
Chr10:62813497
EGR2R381C, R331CCharcot-Marie-Tooth disease, type I, not providedPathogenic
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr10:64573341
GRCh38:
Chr10:62813581
EGR2R353G, R303GCharcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1DUncertain significance
(Jan 6, 2016)		no assertion criteria provided
12.
GRCh37:
Chr10:64573251
GRCh38:
Chr10:62813491
EGR2D383H, D333HCharcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1DUncertain significance
(Jan 6, 2016)		no assertion criteria provided
13.
GRCh37:
Chr10:64573334
GRCh38:
Chr10:62813574
EGR2D355V, D305VCharcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1DUncertain significance
(Jan 6, 2016)		no assertion criteria provided
14.
GRCh37:
Chr10:64573314
GRCh38:
Chr10:62813554
EGR2R362*, R312*Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 1D, Dejerine-Sottas disease
Uncertain significance
(Mar 5, 2018)		criteria provided, single submitter
15.
GRCh37:
Chr10:64573941
GRCh38:
Chr10:62814181
EGR2T153P, T103PCharcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1D, Inborn genetic diseases
Conflicting interpretations of pathogenicity
(Oct 14, 2022)		criteria provided, conflicting interpretations
16.
GRCh37:
Chr10:64573163
GRCh38:
Chr10:62813403
EGR2E412G, E362GCharcot-Marie-Tooth disease, type IPathogenic
(Aug 24, 2021)		criteria provided, single submitter
17.
GRCh37:
Chr10:64575790
GRCh38:
Chr10:62816030
EGR2Charcot-Marie-Tooth disease type 1D, Charcot-Marie-Tooth diseaseLikely benign
(Jan 12, 2018)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr10:64575611
GRCh38:
Chr10:62815851
EGR2Charcot-Marie-Tooth disease, type I, not specified, Charcot-Marie-Tooth disease type 1D
Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr10:64574152
GRCh38:
Chr10:62814392
EGR2Charcot-Marie-Tooth disease, not provided, Charcot-Marie-Tooth disease type 1D,
Charcot-Marie-Tooth disease, type I, Inborn genetic diseases		Benign/Likely benign
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr10:64573857
GRCh38:
Chr10:62814097
EGR2L181F, L131FCharcot-Marie-Tooth disease type 1DUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
21.
GRCh37:
Chr10:64573480
GRCh38:
Chr10:62813720
EGR2Charcot-Marie-Tooth disease, type I, Inborn genetic diseases, Charcot-Marie-Tooth disease type 1D
Conflicting interpretations of pathogenicity
(May 6, 2022)		criteria provided, conflicting interpretations
22.
GRCh37:
Chr10:64573474
GRCh38:
Chr10:62813714
EGR2Charcot-Marie-Tooth disease, type I, Inborn genetic diseases, Charcot-Marie-Tooth disease type 1D
Conflicting interpretations of pathogenicity
(Mar 3, 2022)		criteria provided, conflicting interpretations
23.
GRCh37:
Chr10:64573038
GRCh38:
Chr10:62813278
EGR2C454G, C404GCharcot-Marie-Tooth disease type 1DUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
24.
GRCh37:
Chr10:64572822
GRCh38:
Chr10:62813062
EGR2Charcot-Marie-Tooth disease type 1DUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
25.
GRCh37:
Chr10:64572680
GRCh38:
Chr10:62812920
EGR2not provided, Charcot-Marie-Tooth disease type 1DBenign
(Jun 16, 2018)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr10:64572679
GRCh38:
Chr10:62812919
EGR2not provided, Charcot-Marie-Tooth disease type 1DBenign/Likely benign
(Jun 19, 2018)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr10:64572538
GRCh38:
Chr10:62812778
EGR2Charcot-Marie-Tooth disease type 1DBenign
(Jan 12, 2018)		criteria provided, single submitter
28.
GRCh37:
Chr10:64572511
GRCh38:
Chr10:62812751
EGR2Charcot-Marie-Tooth disease type 1DUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
29.
GRCh37:
Chr10:64572321
GRCh38:
Chr10:62812561
EGR2Charcot-Marie-Tooth disease type 1DUncertain significance
(Jan 12, 2018)		criteria provided, single submitter
30.
GRCh37:
Chr10:64572312
GRCh38:
Chr10:62812552
EGR2Charcot-Marie-Tooth disease type 1DUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
31.
GRCh37:
Chr10:64572093
GRCh38:
Chr10:62812333
EGR2Charcot-Marie-Tooth disease type 1DBenign
(Jan 13, 2018)		criteria provided, single submitter
32.
GRCh37:
Chr10:64572048
GRCh38:
Chr10:62812288
EGR2Charcot-Marie-Tooth disease type 1DUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
33.
GRCh37:
Chr10:64573771
GRCh38:
Chr10:62814011
EGR2Charcot-Marie-Tooth disease type 4E, Dejerine-Sottas disease, Charcot-Marie-Tooth disease, type I,
Charcot-Marie-Tooth disease type 1D, not specified		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr10:64573312
GRCh38:
Chr10:62813552
EGR2Charcot-Marie-Tooth disease, not specified, Charcot-Marie-Tooth disease type 1D,
Charcot-Marie-Tooth disease, type I, not provided		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr10:64574206
GRCh38:
Chr10:62814446
EGR2M64I, M14IInborn genetic diseases, Charcot-Marie-Tooth disease, type I, not specified,
not provided, Charcot-Marie-Tooth disease type 1D		Conflicting interpretations of pathogenicity
(Jun 12, 2023)		criteria provided, conflicting interpretations
36.
GRCh37:
Chr10:64574224
GRCh38:
Chr10:62814464
EGR2Charcot-Marie-Tooth disease, type I, not specified, not provided,
Charcot-Marie-Tooth disease type 1D		Benign/Likely benign
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr10:64573754
GRCh38:
Chr10:62813994
EGR2T215M, T165MCharcot-Marie-Tooth disease type 1D, Inborn genetic diseases, Charcot-Marie-Tooth disease, type I,
not provided		Conflicting interpretations of pathogenicity
(Aug 8, 2023)		criteria provided, conflicting interpretations
38.
GRCh37:
Chr10:64573046
GRCh38:
Chr10:62813286
EGR2G451V, G401VCharcot-Marie-Tooth disease, not provided, Charcot-Marie-Tooth disease, type I,
Charcot-Marie-Tooth disease type 1D		Benign/Likely benign
(Oct 23, 2022)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr10:64573238
GRCh38:
Chr10:62813478
EGR2T387N, T337NCharcot-Marie-Tooth disease, type IUncertain significance
(Jan 11, 2022)		criteria provided, single submitter
40.
GRCh37:
Chr10:64573256
GRCh38:
Chr10:62813496
EGR2R381H, R331HCharcot-Marie-Tooth disease type 1D, Charcot-Marie-Tooth disease, type I, not provided
Pathogenic
(Oct 1, 2023)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr10:64573322
GRCh38:
Chr10:62813562
EGR2R359Q, R309QCharcot-Marie-Tooth disease, type IPathogenic
(Jun 10, 2022)		criteria provided, single submitter
42.
GRCh37:
Chr10:64573251
GRCh38:
Chr10:62813491
EGR2D383Y, D333YCharcot-Marie-Tooth disease type 1DUncertain significance
(Jan 6, 2016)		no assertion criteria provided
43.
GRCh37:
Chr10:64573252
GRCh38:
Chr10:62813492
EGR2S382R, S332RCharcot-Marie-Tooth disease type 1DUncertain significance
(Jan 6, 2016)		no assertion criteria provided
44.
GRCh37:
Chr10:64573323
GRCh38:
Chr10:62813563
EGR2R359W, R309WCharcot-Marie-Tooth disease, type I, not provided, Dejerine-Sottas disease
Pathogenic
(Jul 26, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr10:64573252
Chr10:64573251
GRCh38:
Chr10:62813492
Chr10:62813491
EGR2, EGR2S382R, S332R, D383Y, D333YCongenital hypomyelinating neuropathy 1, autosomal dominantPathogenic
(Nov 27, 2018)		no assertion criteria provided
46.
GRCh37:
Chr10:64573173
GRCh38:
Chr10:62813413
EGR2R409W, R359WCharcot-Marie-Tooth disease, type IPathogenic
(Aug 26, 2021)		criteria provided, single submitter
47.
GRCh37:
Chr10:64573595
GRCh38:
Chr10:62813835
EGR2I268N, I218NCharcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 1DConflicting interpretations of pathogenicity
(Jan 6, 2016)		no assertion criteria provided
Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination