GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
FBN1 C68Rinsufficiently evaluated not reviewedunknown
FBN1 Q117Hinsufficiently evaluated not reviewed, f=0.000unknown var-GS20509-1100-36-ASM
FBN1 R122Cinsufficiently evaluated pathogenicunknown

(44 web hits)

FBN1 R240Cinsufficiently evaluated pathogenicunknown

(19 web hits)

FBN1 G343Rinsufficiently evaluated not reviewedunknown
FBN1 C472Yinsufficiently evaluated not reviewed, f=1.000unknown

(27 web hits)

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 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
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 (hom)
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
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 (hom)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
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 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
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-GS19649-1100-36-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 (hom)
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 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
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-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
FBN1 R485Cinsufficiently evaluated pathogenicunknown

(2 web hits)

FBN1 R529Xinsufficiently evaluated pathogenicunknown

(10 web hits)

FBN1 N548Iinsufficiently evaluated pathogenicunknown

(5 web hits)

FBN1 V645Ginsufficiently evaluated not reviewedunknown

(1 web hit)

FBN1 D723Ainsufficiently evaluated pathogenicunknown

(2 web hits)

FBN1 Y754Cinsufficiently evaluated pathogenicunknown
FBN1 R930Ginsufficiently evaluated not reviewedunknown
FBN1 P938Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
FBN1 G985Einsufficiently evaluated pathogenicunknown

(7 web hits)

FBN1 G1013Rinsufficiently evaluated pathogenicunknown

(12 web hits)

FBN1 C1032Yinsufficiently evaluated pathogenicunknown
FBN1 K1043Rinsufficiently evaluated pathogenicunknown

(3 web hits)

FBN1 E1073Kinsufficiently evaluated pathogenicunknown

(20 web hits)

FBN1 C1074Rinsufficiently evaluated pathogenicunknown

(6 web hits)

FBN1 C1086Yinsufficiently evaluated pathogenicunknown

(2 web hits)

FBN1 I1114Vinsufficiently evaluated none, f=0.008unknown CGI sample GS00253-DNA_D01_200_37
FBN1 C1117Yinsufficiently evaluated pathogenicunknown

(20 web hits)

FBN1 G1127Sinsufficiently evaluated pathogenicunknown

(41 web hits)

FBN1 C1129Yinsufficiently evaluated pathogenicunknown

(14 web hits)

FBN1 N1131Yinsufficiently evaluated pathogenicunknown

(6 web hits)

FBN1 R1137Pinsufficiently evaluated pathogenicunknown

(13 web hits)

FBN1 P1148Ainsufficiently evaluated none, f=0.004unknown

(53 web hits)

var-GS18942-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18947-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
FBN1 R1170Hpathogenic, f=0.002dominant

Reported to cause a “subdiagnostic variant” of Marfan syndrome as recorded by OMIM in ClinVar. This comes from Montgomery et al 1998 (PMID: 9837823) who report studying this in a single affected family. However, there aren’t later publications confirming this variant as causal, at it is quite common. 1 in 500 are expected to carry this, while the Marfan syndrome affects only 1 in 5,000.

(16 web hits)

FBN1 C1221Yinsufficiently evaluated pathogenicunknown

(1 web hit)

FBN1 C1223Yinsufficiently evaluated pathogenicunknown

(14 web hits)

FBN1 C1242Yinsufficiently evaluated pathogenicunknown

(3 web hits)

FBN1 C1249Sinsufficiently evaluated pathogenicunknown

(1 web hit)

FBN1 C1265Rinsufficiently evaluated pathogenicunknown

(2 web hits)

FBN1 N1484Dinsufficiently evaluated noneunknown

(1 web hit)

FBN1 C1663Rinsufficiently evaluated pathogenicunknown

(25 web hits)

FBN1 E1963Ginsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01669-DNA_H05 from PGP sample 10971581
FBN1 A2025Sinsufficiently evaluated not reviewed, f=0.002unknown var-GS19026-1100-36-ASM
FBN1 C2061Winsufficiently evaluated noneunknown
FBN1 Q2141Xinsufficiently evaluated not reviewedunknown
FBN1 N2144Sinsufficiently evaluated pathogenicunknown

(33 web hits)

FBN1 C2221Sinsufficiently evaluated pathogenicunknown

(2 web hits)

FBN1 C2307Sinsufficiently evaluated pathogenicunknown

(3 web hits)

FBN1 E2447Kinsufficiently evaluated pathogenicunknown

(9 web hits)

FBN1 G2619Einsufficiently evaluated none, f=0.000unknown
FBN1 R2726Winsufficiently evaluated pathogenic, f=0.001unknown

(86 web hits)

FBN1 R2776Xinsufficiently evaluated pathogenicunknown

(2 web hits)

FBN1 E2796Kinsufficiently evaluated not reviewedunknown
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Total results: 48

Gene search

"GENE" or "GENE A123C":

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