Table 1.

Classification of 24 Pathogenic Variants

Chromosome:position	Reference Allele	Alternate Allele	Mutation type	Gene	HGVS protein notation	ClinVar 9/30/18	rsID dbSNP 151
2:189858169	G	A	Nonsynonymous	COL3A1	p.G378D	NA
3:30732950	G	A	Stop Gain	TGFBR2	p.W521*	VUS for non-aortic phenotype
5:121412592	CCAGA	C	Frameshift	LOX	p.Cys244fs	NA	rs779512296†
10:53227579	G	A	Nonsynonymous	PRKG1	p.R177Q	Pathogenic	rs397515330
15:48707913	T	C	Nonsynonymous	FBN1	p.N2624S	VUS
15:48713849	G	C	Nonsynonymous	FBN1	p.C2535W	Pathogenic
15:48714232	C	A	Nonsynonymous	FBN1	p.C2496F	Likely pathogenic
15:48719947	TGAAGCAGTACCCTTCCC	T	Frameshift	FBN1	p.R2335fs	NA
15:48722967	A	G	Nonsynonymous	FBN1	p.C2258R	Pathogenic	rs1057520617
15:48725107	C	T	Nonsynonymous	FBN1	p.C2232Y	Pathogenic	rs1060501054
15:48730109	G	A	Stop Gain	FBN1	p.R2057*	Pathogenic	rs763091520
15:48744873	C	T	Nonsynonymous	FBN1	p.E1811K	Conflicting interpretation of pathogenicity	rs761857514†
15:48760660	A	G	Nonsynonymous	FBN1	p.C1511R	Likely pathogenic	rs397515811
15:48764793	A	G	Nonsynonymous	FBN1	p.C1431R	NA
15:48773870	C	CT	Frameshift	FBN1	p.G1316fs	Likely pathogenic
15:48782066	C	A	Stop Gain	FBN1	p.G1022*	NA	rs794728171
15:48786401	C	G	Nonsynonymous	FBN1	p.D910H	NA
15:48802264	G	GT	Frameshift	FBN1	p.Thr564fs	Likely pathogenic
15:48802366	T	C	Nonsynonymous	FBN1	p.D530G	VUS
15:48808561	T	C	Essential Splice Site	FBN1	.	Pathogenic	rs397515756
15:48812913	G	A	Stop Gain	FBN1	p.R364*	Pathogenic	rs794728165
15:48888576	C	T	Essential Splice Site	FBN1	.	Likely pathogenic
15:67457370	TGAA	T	In frame deletion	SMAD3	p.K116del	NA
15:67462935	TA	T	Frameshift	SMAD3	p.Asn218fs	Pathogenic	rs587776881

^†Also present in gnomAD version 2.1