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Results: 8

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
EGR2Charcot-Marie-Tooth disease, type IDPathogenic/Likely pathogenic
(Oct 18, 2012)
classified by single submitter1062813478
2.
EGR2Charcot-Marie-Tooth disease, type IDPathogenic/Likely pathogenic
(Oct 18, 2012)
classified by single submitter1062813496
3.
EGR2Charcot-Marie-Tooth disease, type IDPathogenic/Likely pathogenic
(Oct 18, 2012)
classified by single submitter1062813562
4.
EGR2Congenital hypomyelinating neuropathyPathogenic/Likely pathogenic
(Oct 18, 2012)
classified by single submitter1062813491
5.
EGR2Congenital hypomyelinating neuropathyPathogenic/Likely pathogenic
(Oct 18, 2012)
classified by single submitter1062813492
6.
EGR2Charcot-Marie-Tooth disease, type IDPathogenic/Likely pathogenic
(Aug 26, 2013)
classified by multiple submitters1062813413
7.
EGR2Congenital hypomyelinating neuropathy, Neuropathy, congenital hypomyelinating, autosomal recessivePathogenic/Likely pathogenic
(Aug 26, 2013)
classified by multiple submitters1062813835
8.
EGR2Charcot-Marie-Tooth disease, type ID, Dejerine-Sottas disease, Dejerine-sottas neuropathy, autosomal dominant
Pathogenic/Likely pathogenic
(Aug 26, 2013)
classified by multiple submitters1062813563

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