GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
DARS2 S45Ginsufficiently evaluated pathogenicunknown
DARS2 C152Finsufficiently evaluated pathogenic, f=0.000unknown

(10 web hits)

DARS2 R179Hinsufficiently evaluated pathogenic, f=0.000unknown
DARS2 K196Rinsufficiently evaluated none, f=0.029unknown hu3215A7 build 36 substitution variants
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS19238-1100-36-ASM
var-GS19026-1100-36-ASM
DARS2 R263Qinsufficiently evaluated pathogenicunknown

(4 web hits)

DARS2 R263Xinsufficiently evaluated pathogenicunknown
DARS2 G338Einsufficiently evaluated not reviewed, f=0.025unknown CGI sample GS000005532
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS00253-DNA_C01_200_37
var-GS19026-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
DARS2 E425Xinsufficiently evaluated pathogenicunknown
DARS2 L613Finsufficiently evaluated pathogenicunknown
DARS2 L626Qinsufficiently evaluated pathogenicunknown
DARS2 L626Vinsufficiently evaluated pathogenicunknown

(4 web hits)

Page: 1 2
Total results: 11

Gene search

"GENE" or "GENE A123C":

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