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Results: 3

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
POLGMyoclonic epilepsy myopathy sensory ataxiaPathogenic/Likely pathogenic
(Oct 25, 2013)
classified by single submitter1589327006
2.
POLGProgressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Myoclonic epilepsy myopathy sensory ataxia,
not provided
GO-ESP:0.00046(G)Pathogenic/Likely pathogenic
(Oct 25, 2013)
classified by multiple submitters1589323426
3.
POLGProgressive sclerosing poliodystrophy, Cerebellar ataxia infantile with progressive external ophthalmoplegia, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis,
Myoclonic epilepsy myopathy sensory ataxia
GO-ESP:0.00123(T)Pathogenic/Likely pathogenic
(Oct 25, 2013)
classified by multiple submitters1589327201

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