Unique variants in the FBN1 gene

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

1156 entries on 12 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.-181-280C>G r.(=) p.(=) - likely benign g.48937427G>C - FBN1(NM_000138.4):c.-181-280C>G - FBN1_001067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 _1_15i c.-395_(1837+1_1838-1){0} r.0? p.0? - likely pathogenic (dominant) g.(48797345_48800778)_(48937985_?)del g.(48505148_48508581)_(48645788_?)del (?_1317)_(1837+1_1838-1)del - FBN1_001047 - - - - Germline yes - - - - Katta M Girisha
+/. 1 _1_66_ c.-395_*2684{0} r.0 p.0 ACMG pathogenic g.(?_48700504)_(48937986_?)del g.(?_48408307)_(48645789_?)del c.1_8616del - FBN1_001108 - - - - De novo - - - - - Zexu Chen
+?/. 1 - c.32T>G r.(?) p.(Leu11Arg) - 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 - - - - - VKGL-NL_VUmc
?/. 1 - c.34G>A r.(?) p.(Gly12Arg) - 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 - - - - - VKGL-NL_Utrecht
?/. 2 2 c.50T>C r.(?) p.Leu17Ser 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 - - - - - Linnea Baudhuin
?/. 1 2 c.56C>T r.(?) p.Ser19Phe 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 - - - - - Linnea Baudhuin
?/. 3 2 c.59A>G r.(?) p.(Tyr20Cys), p.Tyr20Cys ACMG VUS g.48936908T>C g.48644711T>C FBN1(NM_000138.4):c.59A>G (p.Y20C) - FBN1_000202 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria, 1 more item Baudhuin 2019, submitted present - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, Linnea Baudhuin
-?/. 4 2 c.79G>A r.(?) p.(Ala27Thr), p.Ala27Thr ACMG likely benign g.48936888C>T g.48644691C>T FBN1(NM_000138.4):c.79G>A (p.A27T, p.(Ala27Thr)) - FBN1_000201 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria, 1 more item Baudhuin 2019, submitted present - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_VUmc, Linnea Baudhuin
?/. 1 2 c.83A>G r.(?) p.Asn28Ser 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 - - - - - Linnea Baudhuin
?/. 1 - c.106G>A r.(?) p.(Glu36Lys) - VUS g.48936861C>T g.48644664C>T - - FBN1_000858 - - - - Unknown - - - - - IMGAG
-?/. 1 2 c.124G>C r.(?) p.Ala42Pro 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 - - - - - Linnea Baudhuin
?/. 1 - c.133A>G r.(?) p.(Arg45Gly) - VUS g.48936834T>C - FBN1(NM_000138.4):c.133A>G (p.R45G) - FBN1_001061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 2 c.137G>A r.(?) p.Gly46Asp 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 - - - - - Linnea Baudhuin
?/. 1 2 c.139G>A r.(?) p.Gly47Ser 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 - - - - - Linnea Baudhuin
?/. 1 2 c.149A>T r.(?) p.His50Leu 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 - - - - - Linnea Baudhuin
-?/. 1 - c.150C>T r.(?) p.(His50=) - 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 - - - - - VKGL-NL_VUmc
?/. 1 2 c.153C>A r.(?) p.Asp51Glu 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 - - - - - Linnea Baudhuin
-/. 1 - c.156G>T r.(?) p.(Ala52=) - 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 - - - - - VKGL-NL_VUmc
+/. 1 - c.164+1G>A r.spl? p.? - 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 - - - Mohammed Faruq
-?/. 1 - c.164+10C>G r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.164+130G>A r.(=) p.(=) - likely benign g.48936673C>T - FBN1(NM_000138.4):c.164+130G>A - FBN1_001092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 2 c.175T>C r.(?) p.(Cys59Arg) - pathogenic (dominant) g.48905279A>G g.48613082A>G - - FBN1_000991 - PubMed: Wei 2011 - - Germline - - - - - Johan den Dunnen
+/., +?/. 7 3 c.184C>T r.(?) p.(Arg62Cys), p.Arg62Cys ACMG likely pathogenic, 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, De novo, Germline -, yes - - - - Linnea Baudhuin, Zexu Chen
-?/. 1 3 c.185G>A r.(?) p.Arg62His 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 - - - - - Linnea Baudhuin
+?/. 1 3 c.188A>G r.(?) p.Tyr63Cys 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 - - - - - Linnea Baudhuin
+?/. 1 - c.199T>C r.(?) p.(Cys67Arg) ACMG likely pathogenic g.48905255A>G - - - FBN1_001166 - - - - De novo - - - - - Zexu Chen
+?/. 1 3 c.202T>A r.(?) p.Cys68Ser 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 - - - - - Linnea Baudhuin
+?/. 1 3 c.212G>C r.(?) p.Trp71Ser 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 - - - - - Linnea Baudhuin
?/. 1 3 c.223C>T r.(?) p.Pro75Ser 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 - - - - - Linnea Baudhuin
-?/. 1 3 c.229G>A r.(?) p.Gly77Arg 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 - - - - - Linnea Baudhuin
+?/. 1 3 c.239G>A r.(?) p.Cys80Tyr 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 - - - - - Linnea Baudhuin
+/. 1 - c.247+1G>A r.spl? p.? - pathogenic g.48905206C>T - FBN1(NM_000138.4):c.247+1G>A - FBN1_001060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.248-17C>G r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 4 c.260A>G r.(?) p.His87Arg 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 - - - - - Linnea Baudhuin
+?/. 1 4 c.266G>A r.(?) p.Cys89Tyr 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 - - - - - Linnea Baudhuin
+?/. 1 4 c.266G>C r.(?) p.Cys89Ser 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 - - - - - Linnea Baudhuin
-?/. 1 - c.273T>C r.(?) p.(Asp91=) - 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 - - - - - VKGL-NL_Utrecht
+?/. 1 4 c.281G>T r.(?) p.Cys94Phe 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 - - - - - Linnea Baudhuin
?/. 2 - c.284C>T r.(?) p.(Ser95Leu) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
?/. 1 4 c.287G>C r.(?) p.Arg96Thr 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 - - - - - Linnea Baudhuin
+?/. 1 4 c.299G>A r.(?) p.Cys100Tyr 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 - - - - - Linnea Baudhuin
+?/. 1 4 c.299G>T r.(?) p.Cys100Phe 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 - - - - - Linnea Baudhuin
+?/. 2 4 c.305G>T r.(?) p.(Cys102Phe), p.Cys102Phe ACMG likely pathogenic, 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, De novo - - - - - Linnea Baudhuin, Zexu Chen
+?/. 1 - c.306C>G r.(?) p.(Cys102Trp) ACMG pathogenic (dominant) g.48902965G>C - - - FBN1_001165 - - - - Germline yes - - - - Zexu Chen
-/., -?/. 3 - c.306C>T r.(=), r.(?) p.(=), p.(Cys102=) - benign, likely benign g.48902965G>A g.48610768G>A FBN1(NM_000138.4):c.306C>T (p.C102=) - FBN1_000033 found in a patient in combination with pathogenic mutation p.Cys805Trp, 1 more item - - rs25388 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.328T>C r.(?) p.(Ser110Pro) - 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 - - - - - VKGL-NL_Utrecht
+?/. 2 4 c.338C>G r.(?) p.(Ser113Cys), p.Ser113Cys 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, Germline - - - - - Linnea Baudhuin, Zexu Chen
-?/. 1 - c.346+262G>A r.(=) p.(=) - 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 - - - - - VKGL-NL_VUmc
?/. 1 5 c.353A>G r.(?) p.His118Arg 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 - - - - - Linnea Baudhuin
+/., +?/. 3 5 c.364C>T r.(?) p.(Arg122Cys), p.Arg122Cys 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, De novo - - - - - Linnea Baudhuin, Zexu Chen
+/. 1 5 c.368G>A r.(?) p.Cys123Tyr 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 - - - - - Linnea Baudhuin
-?/. 1 5 c.370A>G r.(?) p.Met124Val 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 - - - - - Linnea Baudhuin
?/. 1 5 c.379G>C r.(?) p.Gly127Arg 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 - - - - - Linnea Baudhuin
+/., +?/. 2 5 c.385T>G r.(?) p.(Cys129Gly), p.Cys129Gly ACMG likely pathogenic, pathogenic g.48892393A>C g.48600196A>C - - FBN1_000075 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria, 1 more item Baudhuin 2019, submitted present - CLASSIFICATION record, De novo - 1/200 - - - Ramona Haji-Seyed-Javadi, Linnea Baudhuin
+?/. 1 - c.407G>T r.(?) p.(Cys136Phe) ACMG pathogenic g.48892371C>A - - - FBN1_001164 - - - - Germline yes - - - - Zexu Chen
?/. 1 5 c.412A>C r.(?) p.Lys138Gln 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 - - - - - Linnea Baudhuin
?/. 1 5 c.415G>C r.(?) p.Gly139Arg 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 - - - - - Linnea Baudhuin
+/. 1 5 c.416G>T r.(?) p.(Gly139Val) ACMG likely pathogenic (dominant) g.48892362C>A g.48600165C>A g.48892362C>A - FBN1_001025 - Author 2020, submitted - - De novo - - - - - Angel Zuniga
+?/. 2 5 c.434G>A r.(?) p.(Cys145Tyr), p.Cys145Tyr ACMG likely pathogenic, 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, De novo - - - - - Linnea Baudhuin, Zexu Chen
+/. 1 - c.439C>T r.(?) p.(Gln147Ter) - 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 - - - - - VKGL-NL_VUmc
-?/. 1 - c.442+15G>T r.(=) p.(=) - likely benign g.48892321C>A - FBN1(NM_000138.4):c.442+15G>T - FBN1_001091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.442+85C>G r.(=) p.(=) - 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 - - - - - VKGL-NL_VUmc
-/. 1 - c.443-35A>G r.(=) p.(=) - benign g.48888610T>C g.48596413T>C - - FBN1_000032 - - - rs116842662 Germline - - - - - Andreas Laner
-?/. 1 - c.443-13C>T r.(=) p.(=) - 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 - - - - - VKGL-NL_VUmc
+?/. 1 - c.449G>A r.(?) p.(Cys150Tyr) ACMG pathogenic g.48888569C>T - - - FBN1_001163 - - - - Germline - - - - - Zexu Chen
+?/. 1 6 c.454A>T r.(?) p.Ser152Cys 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 - - - - - Linnea Baudhuin
+?/. 1 6 c.461G>C r.(?) p.Cys154Ser 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 - - - - - Linnea Baudhuin
?/. 1 6 c.466A>G r.(?) p.Asn156Asp 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 - - - - - Linnea Baudhuin
+?/. 1 6 c.478T>C r.(?) p.Cys160Arg 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 - - - - - Linnea Baudhuin
+/., +?/. 4 6 c.479G>A r.(?) p.(Cys160Tyr) ACMG pathogenic, pathogenic (dominant) g.48888539C>T g.48596342C>T g.54447G>A - FBN1_000031 - Author 2020, submitted - - Germline yes - - - - Andreas Laner, Angel Zuniga, Zexu Chen
?/. 1 6 c.484G>A r.(?) p.Ala162Thr 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 - - - - - Linnea Baudhuin
+/. 1 - c.493C>T r.(?) p.(Arg165Ter) - pathogenic g.48888525G>A - FBN1(NM_000138.4):c.493C>T (p.R165*) - FBN1_001059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 6 c.494G>C r.(?) p.Arg165Pro 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 - - - - - Linnea Baudhuin
+?/. 1 6 c.497G>C r.(?) p.Cys166Ser 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 - - - - - Linnea Baudhuin
+/. 1 - c.509A>G r.(?) p.(Tyr170Cys) - 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 - - - - - VKGL-NL_VUmc
-/., -?/. 2 - c.510C>T r.(?) p.(Tyr170=) - benign, likely benign g.48888508G>A g.48596311G>A FBN1(NM_000138.4):c.510C>T (p.Y170=) - FBN1_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.511G>A r.(?) p.(Gly171Arg) - VUS g.48888507C>T g.48596310C>T FBN1(NM_000138.4):c.511G>A (p.(Gly171Arg)) - FBN1_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 6 c.529T>C r.(?) p.Cys177Arg ACMG likely pathogenic g.48888489A>G g.48596292A>G - - FBN1_000815 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - - - Linnea Baudhuin
-?/. 2 - c.538+4A>G r.spl? p.? - likely benign g.48888476T>C g.48596279T>C FBN1(NM_000138.4):c.538+4A>G - FBN1_000965 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
+/. 1 - c.539-1G>A r.spl? p.? - pathogenic g.48830006C>T g.48537809C>T - - FBN1_001004 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs794728161 Germline - 1/2795 individuals - - - Mohammed Faruq
?/. 1 7 c.556T>C r.(?) p.Cys186Arg ACMG VUS g.48829988A>G g.48537791A>G - - FBN1_000814 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - - - Linnea Baudhuin
?/. 1 - c.572G>T r.(?) p.(Ser191Ile) - VUS g.48829972C>A g.48537775C>A - - FBN1_000964 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.576C>G r.(?) p.(Asn192Lys) - VUS g.48829968G>C g.48537771G>C - - FBN1_000970 - - - - Germline/De novo (untested) - - - - - Gemeinschaftspraxis für Humangenetik Dresden
?/. 1 7 c.589G>C r.(?) p.Gly197Arg ACMG VUS g.48829955C>G g.48537758C>G - - FBN1_000813 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - - - Linnea Baudhuin
?/. 1 - c.590G>A r.(?) p.(Gly197Glu) - VUS g.48829954C>T g.48537757C>T FBN1(NM_000138.4):c.590G>A (p.G197E) - FBN1_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 7 c.629G>A r.(?) p.Cys210Tyr ACMG VUS g.48829915C>T g.48537718C>T - - FBN1_000812 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - - - Linnea Baudhuin
+/., +?/. 3 7 c.640G>A r.(?) p.(Gly214Ser), p.Gly214Ser ACMG likely pathogenic, pathogenic g.48829904C>T g.48537707C>T - - FBN1_000811 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record, De novo - - - - - Linnea Baudhuin, Zexu Chen
+?/. 1 - c.641G>A r.(?) p.(Gly214Asp) ACMG pathogenic g.48829903C>T - - - FBN1_001162 - - - - De novo - - - - - Zexu Chen
+?/. 1 - c.643C>T r.(?) p.(Arg215Ter) - likely pathogenic g.48829901G>A g.48537704G>A - - FBN1_000989 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 7 c.649T>G r.(?) p.Trp217Gly ACMG likely pathogenic g.48829895A>C g.48537698A>C - - FBN1_000810 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - - - Linnea Baudhuin
?/. 1 - c.694C>T r.(?) p.(Arg232Cys) - VUS g.48829850G>A g.48537653G>A - - FBN1_000963 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 7 c.697C>T r.(?) p.Arg233Cys ACMG VUS g.48829847G>A g.48537650G>A - - FBN1_000809 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - - - Linnea Baudhuin
+/. 1 7 c.710C>A r.(?) p.(Pro237Gln) ACMG likely pathogenic (dominant) g.48829834G>T g.48537637G>T g.113152C>A - FBN1_001024 - Author 2020, submitted - - Germline yes - - - - Angel Zuniga
+/., +?/. 7 7 c.718C>T r.(?) p.(Arg240Cys), p.Arg240Cys ACMG likely pathogenic, pathogenic, pathogenic (dominant) g.48829826G>A g.48537629G>A FBN1(NM_000138.4):c.718C>T (p.R240C) - FBN1_000074 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland, 1 more item Baudhuin 2019, submitted, PubMed: Narang 2020, Journal: Narang 2020 present rs137854480 CLASSIFICATION record, De novo, Germline -, yes 1/2795 individuals - - - Kristina Lagerstedt Robinson, VKGL-NL_VUmc, Linnea Baudhuin, Mohammed Faruq, Zexu Chen
?/. 1 7 c.722C>T r.(?) p.Thr241Met ACMG VUS g.48829822G>A g.48537625G>A - - FBN1_000808 classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria Baudhuin 2019, submitted present - CLASSIFICATION record - - - - - Linnea Baudhuin
+/. 1 - c.725del r.(?) p.(Gly242GlufsTer88) - pathogenic g.48829821del g.48537624del 723del - FBN1_001096 not in 624 control chromosomes PubMed: Sun 2015 - - Germline - 1/596 chromosomes - - - LOVD
-/. 1 - c.737-21_737-20del r.(=) p.(=) - benign g.48826427_48826428del g.48534230_48534231del FBN1(NM_000138.4):c.737-21_737-20delCT - FBN1_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.762C>T r.(?) p.(Pro254=) - likely benign g.48826377G>A g.48534180G>A FBN1(NM_000138.4):c.762C>T (p.P254=) - FBN1_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.772C>T r.(?) p.(Gln258Ter) - pathogenic g.48826367G>A g.48534170G>A FBN1(NM_000138.4):c.772C>T (p.Q258*) - FBN1_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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