GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
STXBP1 V33VVinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
STXBP1 V84Dinsufficiently evaluated pathogenicunknown
STXBP1 C180Yinsufficiently evaluated pathogenicunknown

(2 web hits)

STXBP1 R388Xinsufficiently evaluated pathogenicunknown

(16 web hits)

STXBP1 S400Ginsufficiently evaluated not reviewedunknown
STXBP1 M443Rinsufficiently evaluated pathogenicunknown
STXBP1 G544Dinsufficiently evaluated pathogenicunknown
Total results: 7

Gene search

"GENE" or "GENE A123C":

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