Full data view for gene FBN1

Information The variants shown are described using the NM_000138.4 transcript reference sequence.

1446 entries on 15 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-181-280C>G r.(=) p.(=) Unknown - likely benign g.48937427G>C - FBN1(NM_000138.4):c.-181-280C>G - FBN1_001067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. _1_15i c.-395_(1837+1_1838-1){0} r.0? p.0? Unknown - likely pathogenic (dominant) g.(48797345_48800778)_(48937985_?)del g.(48505148_48508581)_(48645788_?)del (?_1317)_(1837+1_1838-1)del - FBN1_001047 - - - - Germline yes - - 0 - DNA MLPA, SEQ, SEQ-NG-I blood panel FBN1,TGFBR1,TGFBR2,TGFB2,TGFB3,SMAD3,SKI MFS P1 - - F no India - - 0 - - 1 Katta M Girisha
+/. _1_66_ c.-395_*2684{0} r.0 p.0 Unknown ACMG pathogenic g.(?_48700504)_(48937986_?)del g.(?_48408307)_(48645789_?)del c.1_8616del - FBN1_001108 - - - - De novo - - - 0 - DNA MLPA - - MFS EENT0048 - - M - China - - - - - 1 Zexu Chen
+?/. - c.32T>G r.(?) p.(Leu11Arg) Unknown - likely pathogenic g.48936935A>C g.48644738A>C FBN1(NM_000138.4):c.32T>G (p.L11R) - FBN1_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.34G>A r.(?) p.(Gly12Arg) Unknown - VUS g.48936933C>T g.48644736C>T FBN1(NM_000138.4):c.34G>A (p.G12R) - FBN1_000968 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.50T>C r.(?) p.Leu17Ser Unknown ACMG VUS g.48936917A>G g.48644720A>G - - FBN1_000219 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.50T>C r.(?) p.Leu17Ser Unknown ACMG VUS g.48936917A>G g.48644720A>G - - FBN1_000219 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.56C>T r.(?) p.Ser19Phe Unknown ACMG VUS g.48936911G>A g.48644714G>A - - FBN1_000854 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.59A>G r.(?) p.(Tyr20Cys) Unknown - VUS g.48936908T>C g.48644711T>C FBN1(NM_000138.4):c.59A>G (p.Y20C) - FBN1_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.59A>G r.(?) p.(Tyr20Cys) Unknown - VUS g.48936908T>C g.48644711T>C FBN1(NM_000138.4):c.59A>G (p.Y20C) - FBN1_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.59A>G r.(?) p.Tyr20Cys Unknown ACMG VUS g.48936908T>C g.48644711T>C - - FBN1_000202 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.79G>A r.(?) p.(Ala27Thr) Unknown - likely benign g.48936888C>T g.48644691C>T FBN1(NM_000138.4):c.79G>A (p.A27T, p.(Ala27Thr)) - FBN1_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.79G>A r.(?) p.(Ala27Thr) Unknown - likely benign g.48936888C>T g.48644691C>T FBN1(NM_000138.4):c.79G>A (p.A27T, p.(Ala27Thr)) - FBN1_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 2 c.79G>A r.(?) p.Ala27Thr Unknown ACMG likely benign g.48936888C>T g.48644691C>T - - FBN1_000201 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.79G>A r.(?) p.(Ala27Thr) Unknown - likely benign g.48936888C>T g.48644691C>T FBN1(NM_000138.4):c.79G>A (p.A27T, p.(Ala27Thr)) - FBN1_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.83A>G r.(?) p.Asn28Ser Unknown ACMG VUS g.48936884T>C g.48644687T>C - - FBN1_000853 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.106G>A r.(?) p.(Glu36Lys) Unknown - VUS g.48936861C>T g.48644664C>T - - FBN1_000858 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - F - - - - 0 - - 1 IMGAG
-?/. 2 c.124G>C r.(?) p.Ala42Pro Unknown ACMG likely benign g.48936843C>G g.48644646C>G - - FBN1_000852 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.133A>G r.(?) p.(Arg45Gly) Unknown - VUS g.48936834T>C - FBN1(NM_000138.4):c.133A>G (p.R45G) - FBN1_001061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.137G>A r.(?) p.Gly46Asp Unknown ACMG VUS g.48936830C>T g.48644633C>T - - FBN1_000851 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.139G>A r.(?) p.Gly47Ser Unknown ACMG VUS g.48936828C>T g.48644631C>T - - FBN1_000850 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.149A>T r.(?) p.His50Leu Unknown ACMG VUS g.48936818T>A g.48644621T>A - - FBN1_000849 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.150C>T r.(?) p.(His50=) Unknown - likely benign g.48936817G>A g.48644620G>A FBN1(NM_000138.4):c.150C>T (p.H50=) - FBN1_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.153C>A r.(?) p.Asp51Glu Unknown ACMG VUS g.48936814G>T g.48644617G>T - - FBN1_000848 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.156G>T r.(?) p.(Ala52=) Unknown - benign g.48936811C>A g.48644614C>A FBN1(NM_000138.4):c.156G>T (p.A52=) - FBN1_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.164+1G>A r.spl? p.? Parent #1 - pathogenic g.48936802C>T g.48644605C>T - - FBN1_001005 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs794728213 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-?/. - c.164+10C>G r.(=) p.(=) Unknown - likely benign g.48936793G>C g.48644596G>C FBN1(NM_000138.4):c.164+10C>G - FBN1_000990 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.164+130G>A r.(=) p.(=) Unknown - likely benign g.48936673C>T - FBN1(NM_000138.4):c.164+130G>A - FBN1_001092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.175T>C r.(?) p.(Cys59Arg) Parent #1 - pathogenic (dominant) g.48905279A>G g.48613082A>G - - FBN1_000991 - PubMed: Wei 2011 - - Germline - - - 0 - DNA SEQ, SEQ-NG - gene panel MFS P3 PubMed: Wei 2011 - - - China - - 0 - - 1 Johan den Dunnen
+?/. 3 c.184C>T r.(?) p.Arg62Cys Unknown ACMG likely pathogenic g.48905270G>A g.48613073G>A - - FBN1_000847 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.184C>T r.(?) p.(Arg62Cys) Maternal (confirmed) ACMG pathogenic g.48905270G>A - - - FBN1_000847 - - - - Germline yes - - - - DNA SEQ-NG-I blood gene panel ECTOL-1 EENT0018 - - - - China - - - - - 1 Zexu Chen
+?/. - c.184C>T r.(?) p.(Arg62Cys) Paternal (confirmed) ACMG pathogenic g.48905270G>A - - - FBN1_000847 - - - - Germline yes - - - - DNA SEQ-NG-I - - MFS EENT0044 - - F - China - - - - - 1 Zexu Chen
+/. - c.184C>T r.(?) p.(Arg62Cys) Unknown ACMG pathogenic g.48905270G>A - - - FBN1_000847 - - - - De novo - - - - - DNA SEQ-NG-I blood gene panel ECTOL-1 EENT0055 - - F - China - - - - - 1 Zexu Chen
+/. - c.184C>T r.(?) p.(Arg62Cys) Unknown ACMG pathogenic g.48905270G>A - - - FBN1_000847 - - - - De novo - - - - - DNA SEQ-NG-I - - ECTOL-1 EENT0067 - - M - China - - - - - 1 Zexu Chen
+/. - c.184C>T r.(?) p.(Arg62Cys) Unknown ACMG pathogenic g.48905270G>A - - - FBN1_000847 - - - - De novo - - - - - DNA SEQ-NG-I - - ECTOL-1 EENT0068 - - F - China - - - - - 1 Zexu Chen
+/. - c.184C>T r.(?) p.(Arg62Cys) Unknown ACMG pathogenic g.48905270G>A - - - FBN1_000847 - - - - De novo - - - - - DNA SEQ-NG-I - - ECTOL-1 EENT0094 - - M - China - - - - - 1 Zexu Chen
-?/. 3 c.185G>A r.(?) p.Arg62His Unknown ACMG likely benign g.48905269C>T g.48613072C>T - - FBN1_000846 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 3 c.188A>G r.(?) p.Tyr63Cys Unknown ACMG likely pathogenic g.48905266T>C g.48613069T>C - - FBN1_000845 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.199T>C r.(?) p.(Cys67Arg) Unknown ACMG likely pathogenic g.48905255A>G - - - FBN1_001166 - - - - De novo - - - - - DNA SEQ-NG-I - - MFS EENT0038 - - M - China - - - - - 1 Zexu Chen
+?/. 3 c.202T>A r.(?) p.Cys68Ser Unknown ACMG likely pathogenic g.48905252A>T g.48613055A>T - - FBN1_000844 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 3 c.212G>C r.(?) p.Trp71Ser Unknown ACMG likely pathogenic g.48905242C>G g.48613045C>G - - FBN1_000843 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3 c.223C>T r.(?) p.Pro75Ser Unknown ACMG VUS g.48905231G>A g.48613034G>A - - FBN1_000842 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 3 c.229G>A r.(?) p.Gly77Arg Unknown ACMG likely benign g.48905225C>T g.48613028C>T - - FBN1_000841 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 3 c.239G>A r.(?) p.Cys80Tyr Unknown ACMG likely pathogenic g.48905215C>T g.48613018C>T - - FBN1_000840 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.247+1G>A r.spl? p.? Unknown - pathogenic g.48905206C>T - FBN1(NM_000138.4):c.247+1G>A - FBN1_001060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.248-17C>G r.(=) p.(=) Unknown - likely benign g.48903040G>C g.48610843G>C FBN1(NM_000138.4):c.248-17C>G - FBN1_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 4 c.260A>G r.(?) p.His87Arg Unknown ACMG VUS g.48903011T>C g.48610814T>C - - FBN1_000839 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 4 c.266G>A r.(?) p.Cys89Tyr Unknown ACMG likely pathogenic g.48903005C>T g.48610808C>T - - FBN1_000837 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 4 c.266G>C r.(?) p.Cys89Ser Unknown ACMG likely pathogenic g.48903005C>G g.48610808C>G - - FBN1_000838 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.273T>C r.(?) p.(Asp91=) Unknown - likely benign g.48902998A>G g.48610801A>G FBN1(NM_000138.4):c.273T>C (p.D91=) - FBN1_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 4 c.281G>T r.(?) p.Cys94Phe Unknown ACMG likely pathogenic g.48902990C>A g.48610793C>A - - FBN1_000836 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.284C>T r.(?) p.(Ser95Leu) Unknown - VUS g.48902987G>A g.48610790G>A FBN1(NM_000138.4):c.284C>T (p.(Ser95Leu)) - FBN1_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.284C>T r.(?) p.(Ser95Leu) Unknown - VUS g.48902987G>A g.48610790G>A FBN1(NM_000138.4):c.284C>T (p.(Ser95Leu)) - FBN1_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 4 c.287G>C r.(?) p.Arg96Thr Unknown ACMG VUS g.48902984C>G g.48610787C>G - - FBN1_000835 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 4 c.299G>A r.(?) p.Cys100Tyr Unknown ACMG likely pathogenic g.48902972C>T g.48610775C>T - - FBN1_000833 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 4 c.299G>T r.(?) p.Cys100Phe Unknown ACMG likely pathogenic g.48902972C>A g.48610775C>A - - FBN1_000834 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 4 c.305G>T r.(?) p.Cys102Phe Unknown ACMG likely pathogenic g.48902966C>A g.48610769C>A - - FBN1_000832 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.305G>T r.(?) p.(Cys102Phe) Unknown ACMG pathogenic g.48902966C>A - - - FBN1_000832 - - - - De novo - - - - - DNA SEQ-NG-I - - MFS EENT0100 - - - - China - - - - - 1 Zexu Chen
+?/. - c.306C>G r.(?) p.(Cys102Trp) Maternal (confirmed) ACMG pathogenic (dominant) g.48902965G>C - - - FBN1_001165 - - - - Germline yes - - - - DNA SEQ-NG-I - - MFS EENT0070 - - F - China - - - - - 1 Zexu Chen
-/. - c.306C>T r.(=) p.(=) Parent #1 - benign g.48902965G>A g.48610768G>A - - FBN1_000033 found in a patient in combination with pathogenic mutation p.Cys805Trp - - rs25388 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.306C>T r.(?) p.(Cys102=) Unknown - benign g.48902965G>A g.48610768G>A FBN1(NM_000138.4):c.306C>T (p.C102=) - FBN1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.306C>T r.(?) p.(Cys102=) Unknown - likely benign g.48902965G>A g.48610768G>A FBN1(NM_000138.4):c.306C>T (p.C102=) - FBN1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.328T>C r.(?) p.(Ser110Pro) Unknown - VUS g.48902943A>G g.48610746A>G FBN1(NM_000138.4):c.328T>C (p.S110P) - FBN1_000967 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.338C>G r.(?) p.Ser113Cys Unknown ACMG likely pathogenic g.48902933G>C g.48610736G>C - - FBN1_000831 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.338C>G r.(?) p.(Ser113Cys) Unknown ACMG likely pathogenic g.48902933G>C - - - FBN1_000831 - - - - Germline - - - - - DNA SEQ-NG-I blood gene panel MFS EENT0026 - - M - China - - - - - 1 Zexu Chen
-?/. - c.346+262G>A r.(=) p.(=) Unknown - likely benign g.48902663C>T g.48610466C>T FBN1(NM_000138.4):c.346+262G>A - FBN1_001014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.353A>G r.(?) p.His118Arg Unknown ACMG VUS g.48892425T>C g.48600228T>C - - FBN1_000830 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.364C>T r.(?) p.Arg122Cys Unknown ACMG pathogenic g.48892414G>A g.48600217G>A - - FBN1_000829 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.364C>T r.(?) p.(Arg122Cys) Unknown ACMG pathogenic g.48892414G>A - - - FBN1_000829 - - - - De novo - - - - - DNA SEQ-NG-I - - MFS EENT0103 - - M - China - - - - - 1 Zexu Chen
+?/. - c.364C>T r.(?) p.(Arg122Cys) Unknown ACMG pathogenic g.48892414G>A - - - FBN1_000829 - - - - De novo - - - - - DNA SEQ-NG-I blood gene panel MFS EENT0120 - - F - China - - - - - 1 Zexu Chen
+/. 5 c.368G>A r.(?) p.Cys123Tyr Unknown ACMG pathogenic g.48892410C>T g.48600213C>T - - FBN1_000828 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 5 c.370A>G r.(?) p.Met124Val Unknown ACMG likely benign g.48892408T>C g.48600211T>C - - FBN1_000827 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 5 c.379G>C r.(?) p.Gly127Arg Unknown ACMG VUS g.48892399C>G g.48600202C>G - - FBN1_000826 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.385T>G r.(?) p.(Cys129Gly) Unknown - pathogenic g.48892393A>C g.48600196A>C - - FBN1_000075 de novo, germline and somatic mosaicism - - - De novo - 1/200 - 0 - DNA SEQ - - MFS - - - M - Iran Iranian - 0 - - 1 Ramona Haji-Seyed-Javadi
+?/. 5 c.385T>G r.(?) p.Cys129Gly Unknown ACMG likely pathogenic g.48892393A>C g.48600196A>C - - FBN1_000075 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.407G>T r.(?) p.(Cys136Phe) Unknown ACMG pathogenic g.48892371C>A - - - FBN1_001164 - - - - Germline yes - - - - DNA SEQ-NG-I - - MFS EENT0086 - - F - China - - - - - 1 Zexu Chen
?/. 5 c.412A>C r.(?) p.Lys138Gln Unknown ACMG VUS g.48892366T>G g.48600169T>G - - FBN1_000825 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 5 c.415G>C r.(?) p.Gly139Arg Unknown ACMG VUS g.48892363C>G g.48600166C>G - - FBN1_000824 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.416G>T r.(?) p.(Gly139Val) Unknown ACMG likely pathogenic (dominant) g.48892362C>A g.48600165C>A g.48892362C>A - FBN1_001025 - Author 2020, submitted - - De novo - - - 0 - DNA SEQ-NG-I blood - MFS - Author 2020, submitted - F no Spain white >43y 0 - - 1 Angel Zuniga
+?/. 5 c.434G>A r.(?) p.Cys145Tyr Unknown ACMG likely pathogenic g.48892344C>T g.48600147C>T - - FBN1_000823 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.434G>A r.(?) p.(Cys145Tyr) Unknown ACMG pathogenic g.48892344C>T - - - FBN1_000823 - - - - De novo - - - - - DNA SEQ-NG-I - - MFS EENT0114 - - M - China - - - - - 1 Zexu Chen
+/. - c.439C>T r.(?) p.(Gln147Ter) Unknown - pathogenic g.48892339G>A g.48600142G>A FBN1(NM_000138.4):c.439C>T (p.Q147*) - FBN1_000966 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.442+15G>T r.(=) p.(=) Unknown - likely benign g.48892321C>A - FBN1(NM_000138.4):c.442+15G>T - FBN1_001091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.442+85C>G r.(=) p.(=) Unknown - likely benign g.48892251G>C g.48600054G>C FBN1(NM_000138.4):c.442+85C>G - FBN1_001013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.443-35A>G r.(=) p.(=) Parent #1 - benign g.48888610T>C g.48596413T>C - - FBN1_000032 - - - rs116842662 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.443-13C>T r.(=) p.(=) Unknown - likely benign g.48888588G>A g.48596391G>A FBN1(NM_000138.4):c.443-13C>T - FBN1_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.449G>A r.(?) p.(Cys150Tyr) Unknown ACMG pathogenic g.48888569C>T - - - FBN1_001163 - - - - Germline - - - - - DNA SEQ-NG-I blood gene panel MFS EENT0031 - - M - China - - - - - 1 Zexu Chen
+?/. 6 c.454A>T r.(?) p.Ser152Cys Unknown ACMG likely pathogenic g.48888564T>A g.48596367T>A - - FBN1_000822 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 6 c.461G>C r.(?) p.Cys154Ser Unknown ACMG likely pathogenic g.48888557C>G g.48596360C>G - - FBN1_000821 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 6 c.466A>G r.(?) p.Asn156Asp Unknown ACMG VUS g.48888552T>C g.48596355T>C - - FBN1_000820 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 6 c.478T>C r.(?) p.Cys160Arg Unknown ACMG likely pathogenic g.48888540A>G g.48596343A>G - - FBN1_000819 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.479G>A r.(?) p.(Cys160Tyr) Parent #1 - pathogenic g.48888539C>T g.48596342C>T - - FBN1_000031 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+/. 6 c.479G>A r.(?) p.(Cys160Tyr) Maternal (confirmed) ACMG pathogenic (dominant) g.48888539C>T g.48596342C>T g.54447G>A - FBN1_000031 - Author 2020, submitted - - Germline yes - - 0 - DNA SEQ-NG-I blood - MFS - Author 2020, submitted - M no (Spain) white >36y 0 - - 1 Angel Zuniga
+/. 6 c.479G>A r.(?) p.(Cys160Tyr) Unknown ACMG pathogenic (dominant) g.48888539C>T g.48596342C>T g.54447G>A - FBN1_000031 - Author 2020, submitted - - Germline yes - - 0 - DNA SEQ-NG-I blood - MFS - Author 2020, submitted - M no Spain white 28y 0 - - 1 Angel Zuniga
+?/. - c.479G>A r.(?) p.(Cys160Tyr) Maternal (confirmed) ACMG pathogenic g.48888539C>T - - - FBN1_000031 - - - - Germline yes - - - - DNA SEQ-ON blood gene panel MFS EENT0017 - - F - China - - - - - 1 Zexu Chen
?/. 6 c.484G>A r.(?) p.Ala162Thr Unknown ACMG VUS g.48888534C>T g.48596337C>T - - FBN1_000818 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.493C>T r.(?) p.(Arg165Ter) Unknown - pathogenic g.48888525G>A - FBN1(NM_000138.4):c.493C>T (p.R165*) - FBN1_001059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.494G>C r.(?) p.Arg165Pro Unknown ACMG VUS g.48888524C>G g.48596327C>G - - FBN1_000817 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 6 c.497G>C r.(?) p.Cys166Ser Unknown ACMG likely pathogenic g.48888521C>G g.48596324C>G - - FBN1_000816 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.509A>G r.(?) p.(Tyr170Cys) Unknown - pathogenic g.48888509T>C g.48596312T>C FBN1(NM_000138.4):c.509A>G (p.Y170C) - FBN1_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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