GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PAX3 N47Hinsufficiently evaluated pathogenicunknown

(16 web hits)

PAX3 N47Kinsufficiently evaluated pathogenicunknown

(4 web hits)

PAX3 G48Ainsufficiently evaluated pathogenicunknown

(5 web hits)

PAX3 P50Linsufficiently evaluated pathogenicunknown

(6 web hits)

PAX3 S84Finsufficiently evaluated pathogenicunknown

(28 web hits)

PAX3 Y90Hinsufficiently evaluated pathogenicunknown

(19 web hits)

PAX3 K175Ninsufficiently evaluated not reviewed, f=0.002unknown var-GS19239-1100-36-ASM
PAX3 T314Kinsufficiently evaluated not reviewedunknown
PAX3 T315Kinsufficiently evaluated not reviewed, f=0.027unknown

(8 web hits)

hu3215A7 build 36 substitution variants
CGI sample GS01173-DNA_F02 from PGP sample 70008981
Total results: 9

Gene search

"GENE" or "GENE A123C":

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