GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
BBS12 V7Iinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_C01_200_37
BBS12 E126Dinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
BBS12 A289Pinsufficiently evaluated pathogenicunknown

(8 web hits)

BBS12 R355Xinsufficiently evaluated pathogenicunknown

(8 web hits)

BBS12 R368Hinsufficiently evaluated none, f=0.005unknown var-GS19129-1100-36-ASM
BBS12 R386Qinsufficiently evaluated not reviewed, f=0.416unknown

(2 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS000006909
CGI sample GS000005532 (hom)
hu232307 build 36 substitution variants (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37 (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
BBS12 V403Minsufficiently evaluated none, f=0.008unknown var-GS18555-1100-36-ASM
BBS12 S429Tinsufficiently evaluated none, f=0.035unknown var-GS19025-1100-36-ASM
var-GS19703-1100-36-ASM (hom)
var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
BBS12 N461Hinsufficiently evaluated not reviewed, f=0.030unknown var-GS18508-1100-36-ASM
BBS12 D467Ninsufficiently evaluated not reviewed, f=0.171unknown

(2 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000005532
hu232307 build 36 substitution variants (hom)
var-GS21767-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_D01_200_37 (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
hu728FFF build 36 substitution variants
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS20509-1100-36-ASM
BBS12 R484Kinsufficiently evaluated not reviewed, f=0.004unknown var-GS19026-1100-36-ASM
BBS12 S616Ninsufficiently evaluated not reviewed, f=0.033unknown var-GS21767-1100-36-ASM
var-GS18508-1100-36-ASM
BBS12 L623Pinsufficiently evaluated not reviewedunknown
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Total results: 13

Gene search

"GENE" or "GENE A123C":

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