Table 6.

Reportable genetic variants in subjects with hypermobile Ehlers–Danlos syndrome or hypermobility spectrum disorder.

Age (years)	Sex	Clinical diagnosis	CV phenotype	Test type	Gene	Zygosity	cDNA variant	AA change	Classification of variant
33	F	hEDS	None	CTD	FKBP14	het	c.362dupC	p.E122RfsX7	Pathogenic variant for autosomal recessive disorders
35	F	L-HSD	None	PGT	TNXB	het	121-bp deletion in exon 35		Likely pathogenic
61	F	L-HSD	None	WES	FLG	het	c.1501C>T	p.Arg501X	Pathogenic for icthyosis vulgaris
44	F	G-HSD	Aortic root dilatation + SCAD	hTAAD panel	COL5A1	het	c.3260G>C	p.Gly1087Ala	VUS
54	F	H-HSD	Aortic root dilatation + CeAD	hTAAD panel	COL5A2	het	c.379A>C	p.Ile127Leu	VUS
					MYLK	het	c.1802A>G	p.His601Arg	VUS
48	F	hEDS	Aortic root dilatation + CeAD	hTAAD + CTD panels	TNXB	het	c.2083C>T	p.Arg69Trp	VUS
					ADAMTS2	het	c.1793G>A	p.Arg598His	VUS
71	F	H-HSD	Aortic root dilatation	hTAAD panel	COL5A1	het	c.2708C>T	p.Pro903Leu	VUS
					FLNA	het	c.7604G>A	p.Cys2535Tyr	VUS
58	F	hEDS	Aortic root dilatation	hTAAD panel	SKI	het	c.1255G>A	p.Val419Met	VUS
53	M	EDS-NOS	MVP	COL3A1	COL3A1	het	c.3418–5C>A	intronic	VUS
26	F	hEDS	None	CTD	COL1A1	het	c.1018G>A	p.Ala340Thr	VUS
					B3GAT3	het	c.554G>A	p.Gly185Glu	VUS

AA, protein-level amino acid; CV, cardiovascular; cDNA, coding DNA; CeAD, cervical artery dissection; CTD, connective tissue disorder panel; G-HSD, generalized hypermobility spectrum disorder; hEDS, hypermobile Ehlers–Danlos syndrome; H-HSD, historical hypermobility spectrum disorder; hTAAD, heritable thoracic aortic aneurysm and dissection; L-HSD, localized hypermobility spectrum disorder; MVP, mitral valve prolapse; NOS, not otherwise specified; PGT, prenatal genetic testing; het, heterozygous; SCAD, spontaneous coronary artery dissection; VUS, variant of uncertain significance; WES; whole exome sequencing.