GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ACVR1 A15Ginsufficiently evaluated unknown, f=0.006unknown

(1 web hit)

hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_H05 from PGP sample 10971581
hu728FFF build 36 substitution variants
CGI sample GS01173-DNA_B02 from PGP sample 94378523
ACVR1 V132Ainsufficiently evaluated noneunknown
ACVR1 K148Ninsufficiently evaluated noneunknown
ACVR1 R206Hinsufficiently evaluated pathogenicunknown

(398 web hits)

ACVR1 R258Sinsufficiently evaluated pathogenicunknown

(10 web hits)

ACVR1 G356Dinsufficiently evaluated pathogenicunknown

(81 web hits)

ACVR1B T98Ninsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
ACVR1B R478Hinsufficiently evaluated not reviewedunknown

(3 web hits)

ACVR1C I325Vinsufficiently evaluated noneunknown
ACVR1C I402Vinsufficiently evaluated noneunknown
ACVR1C I432Vinsufficiently evaluated noneunknown
ACVR1C I482Vinsufficiently evaluated none, f=0.173unknown var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS18508-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
Page: 1 2
Total results: 12

Gene search

"GENE" or "GENE A123C":

Log in