GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
FBN2 A68Vinsufficiently evaluated not reviewed, f=0.037unknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
FBN2 Q226Rinsufficiently evaluated noneunknown
FBN2 I243Tinsufficiently evaluated none, f=0.004unknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS18940-1100-36-ASM
FBN2 V277Iinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
FBN2 P326Sinsufficiently evaluated not reviewed, f=0.009unknown CGI sample GS000006909
FBN2 R347Hinsufficiently evaluated none, f=0.005unknown

(3 web hits)

CGI sample GS00253-DNA_A01_200_37
FBN2 E390Kinsufficiently evaluated pathogenicunknown
FBN2 N522Iinsufficiently evaluated noneunknown
FBN2 N522Sinsufficiently evaluated not reviewedunknown
FBN2 R566Kinsufficiently evaluated not reviewed, f=0.008unknown var-GS19703-1100-36-ASM
FBN2 N603Dinsufficiently evaluated not reviewedunknown
FBN2 D619Ginsufficiently evaluated not reviewedunknown
FBN2 G925Rinsufficiently evaluated not reviewedunknown
FBN2 V964Iinsufficiently evaluated pathogenicunknown

(2 web hits)

FBN2 V965Iinsufficiently evaluated not reviewed, f=0.665unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
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) (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
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 (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
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 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
FBN2 A1056Sinsufficiently evaluated not reviewed, f=0.009unknown var-GS18501-1100-36-ASM
var-GS19703-1100-36-ASM
FBN2 D1114Hinsufficiently evaluated pathogenicunknown

(5 web hits)

FBN2 C1141Finsufficiently evaluated pathogenicunknown

(9 web hits)

FBN2 C1252Winsufficiently evaluated pathogenicunknown

(9 web hits)

FBN2 C1252Yinsufficiently evaluated pathogenicunknown

(1 web hit)

FBN2 Q1256Rinsufficiently evaluated not reviewed, f=0.000unknown var-GS19703-1100-36-ASM
FBN2 E1438Kinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
FBN2 I2219Vinsufficiently evaluated not reviewed, f=0.001unknown var-GS19703-1100-36-ASM
FBN2 T2278Minsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
FBN2 I2281Finsufficiently evaluated not reviewed, f=0.002unknown var-GS18502-1100-36-ASM
FBN2 M2311Vinsufficiently evaluated none, f=0.101unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS19669-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
FBN2 V2390Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS18501-1100-36-ASM
FBN2 Q2432Hinsufficiently evaluated not reviewed, f=0.009unknown var-GS19025-1100-36-ASM
FBN2 R2473Linsufficiently evaluated none, f=0.000unknown

(1 web hit)

FBN2 S2580Luncertain benign, f=0.078dominant

Probably benign — initially associated with congenital contractual arachnodactyly, but later reports classify it as a nonpathogenic polymorphism.

(1 web hit)

hu3215A7 build 36 substitution variants (hom)
var-GS19020-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000006909
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
hu728FFF build 36 substitution variants
var-GS19026-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
FBN2 T2672Iinsufficiently evaluated none, f=0.008unknown var-GS18517-1100-36-ASM
FBN2 E2783Qinsufficiently evaluated not reviewed, f=0.006unknown var-GS21767-1100-36-ASM
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Total results: 32

Gene search

"GENE" or "GENE A123C":

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