GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SLC7A7 M1Linsufficiently evaluated pathogenicunknown

(14 web hits)

SLC7A7 G54Vinsufficiently evaluated pathogenicunknown

(22 web hits)

SLC7A7 A91Vinsufficiently evaluated none, f=0.014unknown

(1 web hit)

hu34D5B9 exome
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
SLC7A7 G101Ainsufficiently evaluated not reviewedunknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
SLC7A7 W242Xinsufficiently evaluated pathogenicunknown

(17 web hits)

SLC7A7 L334Rinsufficiently evaluated pathogenicunknown

(21 web hits)

SLC7A7 R410Xinsufficiently evaluated pathogenicunknown

(25 web hits)

Total results: 7

Gene search

"GENE" or "GENE A123C":

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