GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
FLNB I92Vinsufficiently evaluated not reviewed, f=0.003unknown var-GS18504-1100-36-ASM
FLNB Y121Finsufficiently evaluated not reviewed, f=0.004unknown var-GS19700-1100-36-ASM
FLNB F161Cinsufficiently evaluated pathogenicunknown

(2 web hits)

FLNB A173Vinsufficiently evaluated pathogenicunknown

(2 web hits)

FLNB M202Vinsufficiently evaluated pathogenicunknown

(11 web hits)

FLNB E227Kinsufficiently evaluated pathogenicunknown

(2 web hits)

FLNB S235Pinsufficiently evaluated pathogenicunknown

(19 web hits)

FLNB P520Linsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
FLNB R566Qinsufficiently evaluated not reviewed, f=0.001unknown var-GS19648-1100-36-ASM
FLNB EG587DCinsufficiently evaluated not reviewed, f=0.008unknown var-GS18555-1100-36-ASM
FLNB K744Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
FLNB G751Rinsufficiently evaluated pathogenicunknown

(2 web hits)

FLNB R818Xinsufficiently evaluated pathogenicunknown

(2 web hits)

FLNB G925Cuncertain benign, f=0.001unknown

Rare, tentatively classified as benign. Polyphen 2 predicts a damaging effect and other variants in this gene are reported to cause serious diseases, but most of these are dominant and have phenotypes contradicted by the presence of this variant in a healthy PGP participant. Variants reported to cause recessive disease are more severe than this variant (nonsense instead of missense mutations).

CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
FLNB V989Minsufficiently evaluated noneunknown
FLNB D1157Ninsufficiently evaluated none, f=0.303unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM (hom)
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 GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
var-GS19669-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
FLNB E1179Kinsufficiently evaluated none, f=0.025unknown

(1 web hit)

var-GS19700-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
FLNB A1286Ginsufficiently evaluated not reviewedunknown
FLNB A1286Vinsufficiently evaluated not reviewed, f=0.034unknown var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18505-1100-36-ASM
FLNB F1411Linsufficiently evaluated not reviewed, f=0.001unknown var-GS20502-1100-36-ASM
FLNB V1471Minsufficiently evaluated none, f=0.363unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM (hom)
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
FLNB V1502Minsufficiently evaluated not reviewedunknown
FLNB R1504Hinsufficiently evaluated not reviewedunknown
FLNB G1586Rinsufficiently evaluated pathogenicunknown

(2 web hits)

FLNB R1607Xinsufficiently evaluated pathogenicunknown

(2 web hits)

FLNB G1691Sinsufficiently evaluated pathogenicunknown

(5 web hits)

FLNB G1782Sinsufficiently evaluated noneunknown
FLNB T1783Minsufficiently evaluated not reviewed, f=0.008unknown var-GS19017-1100-36-ASM
FLNB G1850Xinsufficiently evaluated pathogenicunknown

(1 web hit)

FLNB E1859Xinsufficiently evaluated noneunknown
FLNB G1874Rinsufficiently evaluated not reviewedunknown
FLNB E1950Vinsufficiently evaluated not reviewedunknown
FLNB R1969Qinsufficiently evaluated not reviewedunknown
FLNB R2004Xinsufficiently evaluated pathogenicunknown

(1 web hit)

FLNB K2006Rinsufficiently evaluated none, f=0.010unknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
FLNB A2076Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
FLNB S2137Xinsufficiently evaluated pathogenicunknown
FLNB S2481Pinsufficiently evaluated not reviewedunknown
FLNBA L171Rinsufficiently evaluated pathogenicunknown
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Total results: 39

Gene search

"GENE" or "GENE A123C":

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