GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
TGFBI R124Cinsufficiently evaluated pathogenicunknown

(337 web hits)

TGFBI R124Hinsufficiently evaluated pathogenicunknown

(262 web hits)

TGFBI R124Linsufficiently evaluated pathogenicunknown

(155 web hits)

TGFBI A149Vinsufficiently evaluated noneunknown
TGFBI M343Vinsufficiently evaluated not reviewed, f=0.007unknown var-GS19017-1100-36-ASM
var-GS19026-1100-36-ASM
TGFBI R496Ginsufficiently evaluated not reviewed, f=0.006unknown var-GS19700-1100-36-ASM
TGFBI P501Tinsufficiently evaluated pathogenic, f=0.000unknown

(49 web hits)

TGFBI L509Rinsufficiently evaluated pathogenicunknown

(2 web hits)

TGFBI R514Hinsufficiently evaluated not reviewed, f=0.000unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
TGFBI F540Sinsufficiently evaluated pathogenicunknown

(5 web hits)

TGFBI A549Tinsufficiently evaluated not reviewed, f=0.002unknown var-GS19025-1100-36-ASM
TGFBI R555Qinsufficiently evaluated pathogenicunknown

(115 web hits)

TGFBI R555Winsufficiently evaluated pathogenicunknown

(188 web hits)

TGFBI G623Dinsufficiently evaluated pathogenicunknown

(35 web hits)

TGFBI R666Sinsufficiently evaluated pathogenic, f=0.001unknown

(1 web hit)

Page: 1 2
Total results: 15

Gene search

"GENE" or "GENE A123C":

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