Table 1.

Novel Pathogenic VPS33B and VIPAR Variants Listed in ARC Database

Database ID	Gene	Exon	DNA Change	Protein Change
VPS33B_00221	VPS33B	1	c.67C>T	p.(Arg23*)
VPS33B_00223	VPS33B	1i	c.97-2A>C	p.(?)a
VPS33B_00231	VPS33B	2i	c.178-2A>C	p.(?)
VPS33B_00224	VPS33B	2i	c.178-1G>C	p.(?)
VPS33B_00225	VPS33B	10	c.711del	p.(Phe237Leufs*2)
VPS33B_00226	VPS33B	11i	c.853-3C>G	p.(?)
VPS33B_00227	VPS33B	13i	c.1030+5G>T	p.(?)
VPS33B_00230	VPS33B	16i	c.1225+5G>C	p.(?)
VPS33B_00229	VPS33B	17	c.1261_1262del	p.(Gln421Valfs*8)
VPS33B_00228	VPS33B	20	c.1498G>T	p.(Glu500*)
VPS33B_00232	VPS33B	Δ4	c.240-577_290-156del	p.(Leu81Serfs*5)
VPS33B_00233	VPS33B	3i	c.240-1G>C	p.(?)
VPS33B_00234	VPS33B	21i	c.1657+1G>A	p.(?)
VPS33B_00226	VPS33B	11i	c.853-3C>G	p.(?)
VPS33B_00235	VPS33B	1-23	c.(?_-354)_(*431+d127_?)del	p.(0?)b
VIPAR_00023	VIPAR	9	c.638T>C	p.(Leu213Pro)
VIPAR_00021	VIPAR	6	c.463_464del	p.(Trp155Glufs*4)
VIPAR_00022	VIPAR	6	c.484C>T	p.(Arg162*)
VIPAR_00019	VIPAR	13	c.1021T>C	p.(Cys341Arg)
VIPAR_00020	VIPAR	11i	c.837-1G>T	p.(?)

Variants were numbered using the VPS33B RefSeq (NG_012162.1, NM_018668.3) and VIPAR RefSeq (NG_023421.1, NM_022067.3).

Del, deletion; Fs, frameshift; i, intron; *, stop; Δ, whole exon deletion.

^ap.(?) effect of the variant upon the protein is unknown.

^bp.(0?) no protein product is predicted.