Table 3 Variants identified in FBN1 genes.

TAAD001

AD + AR

N

c.7204+6T > G

—

Splicing

VUS

*

TAAD003

MFS + AD + AR

N

c.1098G > T

p.Trp366Cys

Missense

Likely patho

25

TAAD005

MFS + AD + AR

N

c.8123A > G

p.Asn2708Ser

Missense

VUS

44

TAAD011

TAA + AR

N

c.1129T > A

p.Cys377Ser

Missense

VUS

*

TAAD013

MFS + TAA + AR

N

c.7471 delA

p.Thr2491ProfsX191

Frameshift

Likely patho

*

TAAD014

TAA + AR

N

c.1496G > C

p.Cys499Ser

Missense

Likely patho

27

TAAD017

AD

N

c.7754T > C

p.Ile2585Thr

Missense

patho

45

TAAD020

MFS + TAA + AR

Y

c.4049G > A

p.Cys1350Tyr

Missense

VUS

46

TAAD021

TAA + AR

Y

c.5084G > T

p.Cys1695Phe

Missense

VUS

*

TAAD023

MFS + TAA + AR

N

c.7988G > A

p.Cys2663Tyr

Missense

VUS

*

TAAD024

MFS + AD

N

c.8147_8148insA

p.Tyr2716Ter

Frameshift

patho

18

TAAD026

AD

N

c.911G > T

p.Cys304Phe

Missense

VUS

*

TAAD030

AD

N

c.5742C > A

p.Cys1914Ter

Nonsense

Likely patho

*

TAAD034

AD

N

c.8069T > G

p.Met2690Arg

Missense

VUS

*

TAAD036

MFS + MR + TR

Y

c.5579G > T

p.Cys1860Phe

Missense

VUS

46

TAAD038

MFS + AD + AR

N

c.4454G > A

p.Cys1485Tyr

Missense

Likely patho

28

TAAD039

MFS + AD + AR

N

c.2627G > T

p.Cys876Phe

Missense

VUS

*

TAAD045

MFS + TAA + AR

Y

EX5_54 DEL

—

Exon deletion

Likely patho

*

TAAD046

MFS + AD + AR

Y

c.2216G > A

p.Cys739Tyr

Missense

VUS

*

TAAD050

TAA + AR + MR

Y

EX4_53 DEL

—

Exon deletion

Likely patho

*

TAAD051

AD

Y

c.2056G > A

p.Ala686Thr

Missense

VUS

29

TAAD053

AD

Y

c.7567A > C

p.Ile2523Leu

Missense

VUS

*

TAAD056

MFS + AR + MR

N

c.247 + 1G > A

—

Splicing

patho

47

TAAD068

MFS + TAA + AR

Y

c.4292G > A

p.Cys1431Tyr

Missense

Likely patho

32

TAAD069

MFS + AR + MR

Y

c.8292_8293insT

p.Phe2764PhefsX10

Frameshift

Likely patho

*

TAAD070

MFS + TAA + AR

Y

c.6801C > A

p.Asn2267Lys

Missense

VUS

18