GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
EPM2A W32Ginsufficiently evaluated pathogenicunknown

(24 web hits)

EPM2A P34Ainsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
EPM2A R45Cinsufficiently evaluated pathogenicunknown

(5 web hits)

EPM2A Q55Kinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01173-DNA_B02 from PGP sample 94378523
EPM2A R90Hinsufficiently evaluated pathogenicunknown

(8 web hits)

EPM2A I126Vinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_F01_200_37
EPM2A R160Xinsufficiently evaluated pathogenicunknown
EPM2A R168Xinsufficiently evaluated pathogenicunknown

(11 web hits)

EPM2A G198Sinsufficiently evaluated pathogenicunknown

(2 web hits)

EPM2A G216Sinsufficiently evaluated pathogenicunknown
EPM2A A227Vinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
EPM2A R241Xinsufficiently evaluated pathogenicunknown

(14 web hits)

Page: 1 2
Total results: 12

Gene search

"GENE" or "GENE A123C":

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