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Results: 7

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
CFL2Nemaline myopathy 7Pathogenic/Likely pathogenic
(Dec 19, 2012)
classified by multiple submitters1434713462
2.
TPM3Nemaline myopathy 1Pathogenic/Likely pathogenic
(Aug 5, 2013)
classified by multiple submitters1154191925
3.
NEBNemaline myopathy 2Pathogenic/Likely pathogenic
(Sep 17, 2013)
classified by multiple submitters2151645758 - 151648259
4.
TPM3Nemaline myopathy 1Pathogenic/Likely pathogenic
(Aug 5, 2013)
classified by multiple submitters1154191993
5.
TNNT1Nemaline myopathy 5, not providedPathogenic/Likely pathogenic
(Feb 20, 2014)
classified by multiple submitters1955137176
6.
TPM3Nemaline myopathy 1Pathogenic/Likely pathogenic
(Aug 5, 2013)
classified by multiple submitters1154167938
7.
TPM3Nemaline myopathy 1, Congenital myopathy with fiber type disproportion, Cap myopathy 1
Pathogenic/Likely pathogenic
(Aug 5, 2013)
classified by multiple submitters1154172971

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