GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
OPHN1 V39Iinsufficiently evaluated none, f=0.057unknown

(3 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS07357-1100-36-ASM (hom)
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
var-GS06985-1100-36-ASM
OPHN1 Q62Xinsufficiently evaluated pathogenicunknown

(1 web hit)

OPHN1 M693Iinsufficiently evaluated not reviewed, f=0.005unknown var-GS19020-1100-36-ASM (hom)
OPHN1 R788Qinsufficiently evaluated not reviewed, f=0.011unknown var-GS18942-1100-36-ASM
Total results: 4

Gene search

"GENE" or "GENE A123C":

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