Table 2.

Pathogenicity classifications

Patient	RAB27A mutation	Protein Change	ACMG classification
3	c.514_518del	p.Q172Nfs*2	Pathogenic
4	c.550C>T	p.Arg148Ter	Pathogenic
5	c.514_518del	p.Q172Nfs*2	Pathogenic
6	c.148delA	p.R50Kfs*35	Likely Pathogenic
7	c.454G>C	p.A152P	VUS
8	c.514_518del	p.Q172Nfs*2	Pathogenic
9	c.514_518del	p.Q172Nfs*2	Pathogenic
10	c.514_518del	p.Q172Nfs*2	Pathogenic
11	c.514_518del	p.Q172Nfs*2	Pathogenic