Table 1. Summary of causative mutations identified after molecular analysis in the investigated cases.

Sample ID	Definitive Medical Diagnosis	Gene ID	NM Number	cDNA Level Change	Protein Level Change	NGS Coverage	HGMD*	MIM Number	Classification #
R6	Spondylocarpotarsal Synostosis	FLNB	NM_001457.3	c.1945C>T	p.(Arg649Ter)	89X	CM040999	272460	Pathogenic
R34	Neurofibromatosis-Noonan syndrome	NF1	NM_000267.3	c.625C>T	p.(Gln209Ter)	139X	NA	162200	Pathogenic
R43	Geleophysic dysplasia 2	FBN1	NM_000138	c.5284G>A	p.(Gly1762Ser)	99X	CM115510	614185	Pathogenic
R47	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate syndrome 3	TP63	NM_001114978.1	c.740A>G	p.(His247Arg)	133X	CM100075	604292	Pathogenic
R82	Apert syndrome	FGFR2	NM_022970.3	c.755C>G	p.(Ser252Trp)	86X	CM970526	101200	Pathogenic
R85	Nail-patella syndrome	LMX1B	NM_001174146.1	c.306C>G	p.(Tyr102Ter)	35X	NA	161200	Likely Pathogenic
R99	Cleidocranial dysplasia	RUNX2	NM_001015051.3	c.476G>A	p.(Gly159Asp)	125X	NA	119600	Likely Pathogenic
R121	Weaver syndrome	EZH2	NM_152998.2	c.149T>C	p.(Leu50Ser)	194X	NA	277590	Likely Pathogenic
R122	Townes-Brock syndrome	SALL1	NM_002968.2	c.949C>T	p.(Pro317Ser)	28X	NA	107480	Likely Pathogenic
R150	Hypochondroplasia	FGFR3	NM_001163213.1	c.1626C>G	p.(Asn542Lys)	96X	CM950475	146000	Pathogenic
R156	Wolcott-Rallison syndrome	EIF2AK3	NM_004836.5	c.1192C>T	p.(Gln398Ter)	35X	CM113379	226980	Pathogenic
R163	Spondyloepiphyseal Dysplasia, Congenital type	COL2A1	NM_001844.4	c.3301G>A	p.(Gly1101Arg)	294X	NA	183900	Likely Pathogenic
R174	Trichrhinophalangeal syndrome I	TRPS1	NM_014112.4	c.1693C>T	p.(Gln565Ter)	177X	NA	190350	Likely Pathogenic

*HGMD Access code.

^#Variant Classification according to the ACMG and AMP guidelines [78]. NA: Not applicable.