GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
DES P22Rinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
DES A213Vinsufficiently evaluated benign, f=0.011recessive

Reported in 2004 as a low penetrance allele for Restrictive myopathy and progressive skeletal myopathy. A dissertation published in 2007 (Kostareva, Karolinska Ins.) reports new evidence that it is a benign polymorphism.

(18 web hits)

CGI sample GS000006909
var-GS10851-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
DES A337Pinsufficiently evaluated pathogenicunknown

(23 web hits)

DES L345Pinsufficiently evaluated pathogenicunknown

(34 web hits)

DES R350Pinsufficiently evaluated pathogenicunknown

(80 web hits)

DES A360Pinsufficiently evaluated pathogenicunknown

(366 web hits)

DES R383Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19649-1100-36-ASM
DES L385Pinsufficiently evaluated pathogenicunknown

(6 web hits)

DES Q389Pinsufficiently evaluated pathogenicunknown

(6 web hits)

DES N393Iinsufficiently evaluated pathogenicunknown

(27 web hits)

DES R406Winsufficiently evaluated pathogenicunknown

(103 web hits)

DES T442Iinsufficiently evaluated pathogenicunknown

(9 web hits)

DES I451Minsufficiently evaluated pathogenicunknown

(19 web hits)

DES V459Iinsufficiently evaluated none, f=0.012unknown var-GS18504-1100-36-ASM
var-GS19238-1100-36-ASM
Page: 1 2
Total results: 14

Gene search

"GENE" or "GENE A123C":

Log in