GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
EIF2B2 R43Cinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
EIF2B2 S171Finsufficiently evaluated pathogenicunknown

(8 web hits)

EIF2B2 R183Xinsufficiently evaluated pathogenicunknown

(1 web hit)

EIF2B2 L207Finsufficiently evaluated noneunknown
EIF2B2 E213Ginsufficiently evaluated pathogenicunknown

(16 web hits)

EIF2B2 V316Dinsufficiently evaluated pathogenicunknown

(10 web hits)

Total results: 6

Gene search

"GENE" or "GENE A123C":

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