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Results: 7

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
CLCN1Congenital myotonia, autosomal recessive form, Congenital myotonia, autosomal dominant formPathogenic
(Oct 7, 2013)
classified by multiple submitters
2.
CLCN1Congenital myotonia, autosomal dominant formPathogenic
(Oct 7, 2013)
classified by single submitter7143321718
3.
CLCN1Congenital myotonia, autosomal recessive formPathogenic
(Oct 7, 2013)
classified by single submitter
4.
CLCN1Congenital myotonia, autosomal recessive form, Congenital myotonia, autosomal dominant form, Myotonia congenita
GO-ESP:0.00085(T)
GMAF:0.00160(T)
Pathogenic
(Oct 7, 2013)
classified by multiple submitters7143351678
5.
CLCN1Congenital myotonia, autosomal recessive formPathogenic
(Oct 7, 2013)
classified by single submitter
6.
SCN4APotassium aggravated myotoniaPathogenic
(May 14, 2013)
classified by single submitter1763964587
7.
SCN4APotassium aggravated myotonia, Paramyotonia congenita of von EulenburgPathogenic
(Feb 10, 2015)
classified by single submitter1763943846

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