GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
LAMP2 L113Xinsufficiently evaluated pathogenicunknown

(1 web hit)

LAMP2 Q174Xinsufficiently evaluated pathogenicunknown

(1 web hit)

LAMP2 I252Sinsufficiently evaluated not reviewed, f=0.002unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
LAMP2 T258Iinsufficiently evaluated not reviewedunknown
LAMP2 V310Iinsufficiently evaluated pathogenicunknown

(2 web hits)

LAMP2 W321Rinsufficiently evaluated pathogenicunknown

(4 web hits)

Total results: 6

Gene search

"GENE" or "GENE A123C":

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