Table 1

Diagnostic variants meeting the American College of Medical Genetics (ACMG) criteria for pathogenic and likely pathogenic classification

Patient ID	Variant ID	Age (years)	Gender	Clinical diagnosis	Gene/NM	Protein	ACMG classification
33	1	40–49	F	HDCT	TGFB3 NM_003239.4 c.463C>T	p.Arg155Trp	LP
34	2	30–39	F	HDCT	COL5A1 NM_000093.4 c.4068G>A	Splice	LP
402	4	30–39	M	hEDS	COL12A1 NM_004370.6 c.5097+1G>A	Splice	LP
479	8	20–29	F	HDCT	SMAD2 NM_001003652.3 c.842A>T	p.Glu281Val	LP
564	9	20–29	M	HDCT	TGFB2 NM_001135599.3 c.989G>A	p.Arg330His	P
755	10	40–49	F	hEDS	COL12A1 NM_004370.6 c.8321G>A	p.Gly2774Glu	P
814	14	30–39	F	HDCT	TGFBR2 NM_001024847.2 c.1613T>C	p.Val538Ala	LP
1420	17	0–9	M	HDCT	ALPL NM_000478.6 c.394G>A	p.Ala132Thr	P
1484	18	50–59	F	hEDS	COMP NM_000095.3 c.2048G>T	p.Arg683Leu	LP
1528	19	30–39	M	cEDS	COL5A1 NM_001278074.1 c.3397C>T	p.Arg1133Ter	P

Additional variant annotation is given in online supplemental table 6.
cEDS, classical Ehlers-Danlos syndrome; HDCT, heritable disorders of connective tissue; hEDS, hypermobile Ehlers-Danlos syndrome; LP, likely pathogenic; P, pathogenic.