Table 1.

Meester-Loeys syndrome cohort extension led to the identification of BGN variants in thirteen additional families

Family ID	cDNA change	Protein change	Variant effect	Variant classification	Classification criteria
1	c.46delG	p.Ala16Profs*20	Frameshift	Likely pathogenic variant	pathogenic very strong (PVS) 1, pathogenic moderate (PM) 2
2	c.59_60insAA	p.Gln21Serfs*16	Frameshift	Likely pathogenic variant	PVS1, PM2
3	c.75 G > A	p.Trp25*	Nonsense	Likely pathogenic variant	PVS1, PM2
4	c.75 G > A	p.Trp25*	Nonsense	Likely pathogenic variant	PVS1, PM2
5	c.223 C > T	p.Gln75*	Nonsense	Likely pathogenic variant	PVS1, PM2
6	c.351+1 G > A	p.Tyr117_Ala118insIleArgSerTrpGluGluProAlaGly-LeuGlnGlnArgAlaGlyValArg	Splice site, in-frame insertion	Variant of unknown significance	PM2, PM4
7	c.441delinsAA	p.Asn148Lysfs*54	Frameshift	Variant of unknown significance	PVS1
8	c.441delinsAA	p.Asn148Lysfs*54	Frameshift	Variant of unknown significance	PVS1
9	c.565 G > A	p.Val174Argfs*20 or p.Glu189Lys	Missense, splice site, frameshift	Likely pathogenic variant	PVS1_strong, PM2, PP3
10	c.677-2 A > G	p.Asp225_Leu236del	Splice site, in-frame deletion	Likely pathogenic variant	PM2, PM4_strong, pathogenic supporting (PP) 1
11	c.677-2 A > T	p.Asp225_Leu236del	Splice site, in-frame deletion	Likely pathogenic variant	PM2, PM4_strong
12	c.770+1 G > A	p.?	Splice site, predicted frameshift	Likely pathogenic variant	PVS1_strong, PM2
13	c.910-1 G > A	p.?	Splice site, predicted frameshift	Likely pathogenic variant	PVS1_strong, PM2