Table 2.

Molecular findings of MPS IIIB patients.

	Genotype	Protein	Location	Novelty	ACMG
P-1	c.[2045T>G];[2045T>G]	Leu682Arg	Exon 6	Known	LP
P-2	c.[230T>G];[230T>G]	Val77Gly	Exon 1	Known	LP
P-3	c.[1694G>A];[1694G>A]	Arg565Gln	Exon 6	Known	P
P-4	c.[509G>T];[509G> T]	Gly170Val	Exon 2	Novel	VUS
P-5	c.[509G>T];[509G>T]	Gly170Val	Exon 2	Novel	VUS
P-6	c.[235G>T];[235G>T]	Gly79Cys	Exon 1	Known	LP
P-7	c.[1022-2A>G];[1022-2A>G]		Intron 5	Known	P
P-8	c.[700C>G];[700C>G]	Arg234Gly	Exon 4	Novel	LP
P-9	c.[1022-2A>G];[1022-2A>G]		Intron 5	Known	P
P-10	c.[934G>A];[934G>A]	Asp312Asn	Exon 5	Known	LP
P-11	c.[1000G>A];[1022-2A>G]	Val334Ile	Exon 5/ Intron 5	Known/ known	VUS/ P
P-12	c.[532-?_764+?del]; [532-?_764+?del]		Exon 3–4	Known
P-13	c.[934G>A]; [934G>A]	Asp312Asn	Exon 5	Known	LP

LP: Likely pathogenic.

P: Pathogenic.

VUS: variant of uncertain significance.