GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
FANCC Q13Xinsufficiently evaluated pathogenicunknown

(33 web hits)

FANCC G139Einsufficiently evaluated not reviewed, f=0.017unknown var-GS19704-1100-36-ASM
FANCC R185Xinsufficiently evaluated pathogenic, f=0.000unknown

(33 web hits)

FANCC D195Vinsufficiently evaluated not reviewed, f=0.004unknown var-GS06985-1100-36-ASM
FANCC S264Ginsufficiently evaluated not reviewedunknown
FANCC A336Sinsufficiently evaluated noneunknown
FANCC S386Pinsufficiently evaluated not reviewed, f=0.002unknown var-GS18501-1100-36-ASM
FANCC G401Einsufficiently evaluated noneunknown
FANCC V449Minsufficiently evaluated not reviewed, f=0.028unknown var-GS19025-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS18504-1100-36-ASM
FANCC L496Rinsufficiently evaluated pathogenicunknown

(23 web hits)

FANCC R548Xinsufficiently evaluated pathogenic, f=0.000recessive

Fanconi Anemia

(46 web hits)

FANCC L554Pinsufficiently evaluated pathogenic, f=0.000unknown

(88 web hits)

Page: 1 2
Total results: 12

Gene search

"GENE" or "GENE A123C":

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