Table 2. Molecular summary of infants diagnosed through whole genome sequencing.

No.		Disease	Gene	Inheritance pattern	Ref. seq.	DNA change	AA change	Type of variant	Zygosity	Inheritance	Classification	Evidence	Known or novel
Identified variants in genetically confirmed cases
	1	CHARGE syndrome	CHD7	AD	NM_017780.3	c.2429_2430del	p.(Ser810Cysfs*14)	Frameshift	Het	De novo	PV	PVS1, PS2, PM2	Novel
	2	CHARGE syndrome	CHD7	AD	NM_017780.3	c.2958-19C>G	p.(?)	Splicing	Het	De novo	LPV	PS2, PM2, PP3	Novel
	3	Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy	MED23	AR	NM_004830.3	c.2996-1G>A	p.(?)	Splicing	Het	Paternal	LPV	PVS1_M, PM2, PM3	Novel
						c.431_433del	p.(Lys144del)	In-frame	Het	Maternal	VUS	PM2, PM4	Novel
	4	Ehlers-Danslos syndrome	COL5A2	AD	NM_000393.3	c.3039+2T>C	p.(?)	Splicing	Het	De novo	PV	PVS1_S, PS2, PM2	Novel
	5	Kabuki syndrome	KMT2D	AD	NM_003482.3	c.3103C>T	p.(Gln1035*)	Nonsense	Het	De novo	PV	PVS1, PS2, PM2	Novel
	6	Lymphatic malformation 1	FLT4	AD	NM_182925.4	c.2534T>C	p.(Leu845Pro)	Missense	Het	Maternal	LPV	PM1, PM2, PP1, PP3	Novel
	7	CHARGE syndrome	CHD7	AD	NM_017780.3	c.8745dup	p.(Leu2916Ilefs*25)	Frameshift	Het	De novo	PV	PVS1, PS2, PM2	Novel
	8	Epidermolysis bullosa simplex 1A, generalized severe; Epidermolysis bullosa simplex 1B, generalized intermediate; Epidermolysis bullosa simplex 1C, localized	KRT14	AD	NM_000526.4	c.377T>A	p.(Leu126Gln)	Missense	Het	De novo	LPV	PS2, PM2, PM5, PP3	Novel
	9	Branchio-oto-renal syndrome	EYA1	AD	NC_000008.10(NM_000503.6)	c.203-2100_419-1133delinsG (exon 5-6 deletion)	p.(?)	CNV	Het	Paternal	LPV	PM2, PM4, PP1, PP4	Known42
	10	Godenhar syndrome; Rubinstein-Taybi syndrome	CREBBP	AD	NM_004380.2	c.14dup	p.(Leu5Phefs*22)	Frameshift	Het	De novo	PV	PVS1, PS2, PM2	Novel
	11	Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties	PURA	AD	NM_005859.4	c.583del	p.(Leu195Serfs*30)	Frameshift	Het	De novo	PV	PVS1, PS2, PM2	Novel
	12	Anterior segment dysgenesis 3, multiple subtypes; Axenfeld-Rieger syndrome, type 3	FOXC1	AD	NC_000006.11	g.1596640_1655705delinsGAG (whole gene deletion)	p.(?)	CNV	Het	De novo	PV	PVS1, PS2, PM2	Novel
	13	Polycystic kidney disease 4, with or without hepatic disease	PKHD1	AR	NM_138694.3	c.6840G>A	p.(Trp2280*)	Nonsense	Het	Paternal	PV	PVS1, PM2, PM3	Known43
						c.8408G>A	p.(Cys2803Tyr)	Missense	Het	Maternal	LPV	PM2, PM3, PM5	Novel
	14	Noonan syndrome 1	PTPN11	AD	NM_002834.3	c.228G>C	p.(Glu76Asp)	Missense	Het	De novo	PV	PS2, PS3_M, PS4_M, PM2	Known44
	15	Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities	HNRNPR	AD	NM_001102398.1	c.1609dup	p.(Ala537Glyfs*10)	Frameshift	Het	De novo	PV	PVS1, PS2, PM2	Known45
	16	Thrombophilia 7 due to antithrombin III deficiency	SERPINC1	AR	NM_000488.3	c.235C>T	p.(Arg79Cys)	Missense	Hom	Paternal/Maternal	PV	PS3, PS4_M, PM2, PM5, PP4	Known46
	17	Cornelia de Lange syndrome 1	NIPBL	AD	NM_133433.3	c.5808G>A	r.5710_5808del	Splicing	Het	De novo	LPV	PS2, PM2, PM4	Novel
							p.(Lys1904_Val1936del)
	18	Ciliary dyskinesia, primary, 40	DNAH9	AR	NM_001372.3	c.12844-1G>C	p.(?)	Splicing	Hom	Paternal/Maternal	LPV	PS3, PVS1_M, PM3	Known47
	19	CHARGE syndrome	CHD7	AD	NM_017780.3	c.5968C>T	p.(Gln1990*)	Nonsense	Het	De novo	PV	PVS1, PS2, PM3	Known48
	20	Diets-Jongmans syndrome	KDM3B	AD	NM_016604.3	c.1987G>C	p.(Ala663Pro)	Missense	Het	De novo	LPV	PS2, PM2	Novel
Novel candidate gene
	21	No known Mendelian disease	OLIG3	NA	NM_175747.2	c.536_539dup	p.(Val181Profs*162)	Frameshift	Hom	Maternal isoUPD	VUS	NA	Novel

AA = amino acid, AD = autosomal dominant, Het = heterozygous, PV = pathogenic variant, LPV = likely pathogenic variant, AR = autosomal recessive, VUS = variant of uncertain significance, CNV = copy number variant, Hom = homozygous, NA = not applicable, isoUPD = isouniparental disomy.