GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
BBS1 L59Vinsufficiently evaluated not reviewed, f=0.000unknown
BBS1 E234Kinsufficiently evaluated pathogenic, f=0.034unknown

(5 web hits)

var-GS19703-1100-36-ASM
var-GS19834-1100-36-ASM
BBS1 E252Dinsufficiently evaluated not reviewed, f=0.000unknown var-GS18504-1100-36-ASM
BBS1 M390Rlikely pathogenic, f=0.002recessive

This variant is implicated in causing Bardet-Biedl syndrome; found mostly in Europeans, this is the most frequent Bardet-Biedl syndrome mutation. However homozygousity at this locus does not appear to be sufficient for causing the syndrome. Beales et al. supports the need for an additional mutation. Based on their data, we estimate that roughly 1 in 10 individuals homozygous for BBS1 M390R develop Bardet-Biedl Syndrome (which has a ~1:150,000 frequency in the population).

(189 web hits)

BBS1 R450Qinsufficiently evaluated none, f=0.023unknown

(1 web hit)

var-GS18517-1100-36-ASM
BBS1 L518Pinsufficiently evaluated pathogenicunknown

(3 web hits)

BBS1 N545Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
BBS1 E549Xinsufficiently evaluated pathogenicunknown

(6 web hits)

BBS1 V582Iinsufficiently evaluated not reviewedunknown
BBS10 D142Ninsufficiently evaluated not reviewedunknown hu34D5B9 exome
CGI sample GS01173-DNA_G02 from PGP sample 67180598
BBS10 Q147Rinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_H01_200_37
BBS10 P539Linsufficiently evaluated not reviewed, f=0.054unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_B05 from PGP sample 83494370
hu232307 build 36 substitution variants
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B01_200_37
hu728FFF build 36 substitution variants
var-GS19669-1100-36-ASM
BBS10 N544Sinsufficiently evaluated not reviewed, f=0.007unknown var-GS19020-1100-36-ASM
BBS10 L562Iinsufficiently evaluated not reviewedunknown
BBS10 K579Rinsufficiently evaluated not reviewed, f=0.001unknown var-GS18504-1100-36-ASM
BBS10 A636Vinsufficiently evaluated not reviewedunknown
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
Page: 1 2 3
Total results: 29

Gene search

"GENE" or "GENE A123C":

Log in