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Results: 2

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:229568140
GRCh38:
Chr1:229432393
ACTA1Nemaline myopathy 3Pathogenic
(May 10, 2013)
no assertion criteria provided
2.
GRCh37:
Chr1:229568814
GRCh38:
Chr1:229433067
ACTA1Myopathy, actin, congenital, with excess of thin myofilamentsPathogenic
(May 10, 2013)
no assertion criteria provided