GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PNPO R116Qinsufficiently evaluated not reviewed, f=0.053unknown

(2 web hits)

hu3215A7 build 36 substitution variants
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
PNPO A174Xinsufficiently evaluated pathogenicunknown

(8 web hits)

PNPO R229Winsufficiently evaluated pathogenicunknown

(14 web hits)

Total results: 3

Gene search

"GENE" or "GENE A123C":

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