Table 2.

This table presents a comprehensive overview of the phenotypic and genotypic features observed in all reported cases of Hermansky-Pudlak Syndrome 9, up to now, including the findings from the current study

Study by	Badolato et al.	Yousaf et al.	Okamura et al.	Michaud et al.	Liu et al.	Current Study
Publish date	2012	2016	2018	2020	2021	2023
Origin	Italian	Pakistani	Japanese	Syrian	Chinese	Iranian
Gender	Female	Female	Female	Female	Male	Male
Age	17	4	52	2.5	6	32
Hair color	N/A	Golden white	Blond	Yellow	Brownish-yellow	White blonde/ Gold white
Skin color	N/A	Pink white	White	White	White	Pink white
NM	NM_012388.4	NM_012388.4	NM_012388.4	NM_012388.4	NM_012388.4	NM_012388.4
Variant	c.232 C > T	c.232 C > T	c.285_286dupTC	c.200 C > G, c.319_320delinsAT	c.148G > T, c.351dupT	DEL: chr15(hg38):?-45583185-45590761-?
Exon	Exon 3/5	Exon 3/5	Exon 3/5	Exon 2/5, Exon 4/5	Exon 2/5, Exon 4/5	Exon 1/5
Amino acid change	p.Gln78Ter(Q78*)	p.Gln78Ter(Q78*)	p.His96LeufsTer22	p.Ser67Ter(S67*), p.Glu107Met (E107M)	p.Glu50Ter(E50*), p.Ile118TyrfsTer10(I118Yfs*10)	NMD or Unknown
Protein Position	78/173	78/173	96 /173	67/173, 107/173	50/173, 118/173	1–28/173
Frequency (ExAC)	< 0.01%	< 0.01%	N/A	< 0.01%, N/A	N/A, N/A	N/A
Zygosity	Homo	Homo	Homo	Compound heterozygous	Compound heterozygous	Homo
Variant type	Nonsense	Nonsense	Frameshift	Nonsense, Missense	Nonsense, Frameshift	CNV (deletion)
ACMG classification	Pathogenic	Pathogenic	Likely Pathogenic	Pathogenic, Likely Pathogenic	Pathogenic, Pathogenic	Likely Pathogenic
CLINVAR	Pathogenic	Pathogenic	Not registered in Clinvar	Pathogenic, Likely Pathogenic	Not registered in Clinvar, Not registered in Clinvar	Not registered in Clinvar
Inheritance	AR	AR	AR	AR	AR	AR