GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
TFR2 M172Kinsufficiently evaluated pathogenicunknown

(94 web hits)

TFR2 P225Qinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
TFR2 I238Minsufficiently evaluated none, f=0.043unknown

(16 web hits)

var-GS19020-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19701-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18517-1100-36-ASM
TFR2 Y250Xinsufficiently evaluated pathogenicunknown

(283 web hits)

TFR2 A364Tinsufficiently evaluated noneunknown

(1 web hit)

TFR2 R455Quncertain pathogenic, f=0.002undefined

Hypothesized to be increase risk or severity of hemochromatosis, but only speculations based on a couple sporadic observations (no statistical significance).

(32 web hits)

CGI sample GS01173-DNA_F02 from PGP sample 70008981
TFR2 Q690Pinsufficiently evaluated pathogenicunknown

(35 web hits)

TFR2 R752Hinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01669-DNA_H05 from PGP sample 10971581
TFR2 S770Rinsufficiently evaluated not reviewedunknown
Total results: 9

Gene search

"GENE" or "GENE A123C":

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