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Items: 3

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:10904505
GRCh38:
Chr19:10793829
DNM2Myopathy, centronuclear, 1, Myopathy, centronuclearGO-ESP:0.00001(A)Pathogenic
(May 12, 2016)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr3:9730718
GRCh38:
Chr3:9689034
MTMR14MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OFGO-ESP:0.00001(G)risk factor
(Nov 1, 2006)
no assertion criteria provided
3.
GRCh37:
Chr3:9726311
GRCh38:
Chr3:9684627
MTMR14MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OFrisk factor
(Nov 1, 2006)
no assertion criteria provided
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