GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
FKRP R54Winsufficiently evaluated pathogenicunknown

(6 web hits)

FKRP V79Mpathogenic, f=0.005recessive

This rare, recessive variant is reported to cause limb-girdle muscular dystrophy.

(3 web hits)

var-GS18508-1100-36-ASM
FKRP R134Winsufficiently evaluated pathogenicunknown

(3 web hits)

FKRP R143Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
FKRP S221Rinsufficiently evaluated pathogenicunknown

(22 web hits)

FKRP W255Xinsufficiently evaluated pathogenicunknown

(1 web hit)

FKRP I274Minsufficiently evaluated none, f=0.001unknown var-GS18517-1100-36-ASM
FKRP L276Iinsufficiently evaluated pathogenic, f=0.001recessive

Limb Girdle Muscular Dystrophy

(161 web hits)

FKRP V300Ainsufficiently evaluated pathogenicunknown

(4 web hits)

FKRP Y307Ninsufficiently evaluated pathogenicunknown

(6 web hits)

FKRP Y309Cinsufficiently evaluated pathogenicunknown

(2 web hits)

FKRP P316Tinsufficiently evaluated pathogenicunknown

(2 web hits)

FKRP C318Yinsufficiently evaluated pathogenicunknown

(20 web hits)

FKRP S385Xinsufficiently evaluated pathogenicunknown

(1 web hit)

FKRP V405Linsufficiently evaluated pathogenicunknown

(10 web hits)

FKRP P448Linsufficiently evaluated pathogenicunknown

(58 web hits)

FKRP A455Dinsufficiently evaluated pathogenicunknown

(30 web hits)

FKRP N463Dinsufficiently evaluated pathogenicunknown

(5 web hits)

Page: 1 2
Total results: 18

Gene search

"GENE" or "GENE A123C":

Log in