GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
HSD17B10 L75Vinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
HSD17B10 L122Vinsufficiently evaluated pathogenicunknown

(6 web hits)

HSD17B10 R130Cinsufficiently evaluated pathogenicunknown

(20 web hits)

HSD17B10 R192Rinsufficiently evaluated pathogenicunknown

(4 web hits)

HSD17B10 N247Sinsufficiently evaluated pathogenicunknown

(1 web hit)

HSD17B10 E249Qinsufficiently evaluated pathogenicunknown

(13 web hits)

Total results: 6

Gene search

"GENE" or "GENE A123C":

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