GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CLN6 A12Tinsufficiently evaluated none, f=0.008unknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
CLN6 A18Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
CLN6 E72Xinsufficiently evaluated pathogenicunknown

(13 web hits)

CLN6 G116Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
CLN6 G123Dinsufficiently evaluated pathogenicunknown

(10 web hits)

CLN6 Y221Xinsufficiently evaluated pathogenicunknown

(2 web hits)

CLN6 P299Linsufficiently evaluated not reviewedunknown
Total results: 7

Gene search

"GENE" or "GENE A123C":

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