Table 1.

Summarization of PURA gene variants in 24 patients with PURA syndrome.

Patient	Variant locationa	Variant type	Protein changeb	Inheritance	Literature report	ACMG classification
P1	c.159dup	Frameshift	p.L54Afs*147	De novo	No	Pathogenic
P2	c.42_43del	Frameshift	p.L15Gfs*185	De novo	No	Likely pathogenic
P3	c.159dup	Frameshift	p.L54Afs*147	De novo	No	Pathogenic
P4	c.697_699del	Deletion	p.F233del	De novo	#	Pathogenic
P5	c.449delG	Frameshift	p.R150Pfs*75	De novo	No	Pathogenic
P6	c.159dup	Frameshift	p.L54Afs*147	De novo	No	Pathogenic
P7	c.697_699del	Deletion	p.F233del	De novo	#	Pathogenic
P8	c.159dup	Frameshift	p.L54Afs*147	De novo	No	Pathogenic
P9	c.692T>G	Missense	p.F231C	De novo	No	Likely pathogenic
P10	c.575C>T	Missense	p.A192V	De novo	No	Likely pathogenic
P11	c.458G>C	Missense	p.R153P	De novo	No	Uncertain significance
P12	c.531del	Frameshift	p.P178Lfs*47	De novo	No	Pathogenic
P13	c.10C>T	Nonsense	p.R4X	De novo	No	Likely pathogenic
P14	c.583C>G	Missense	p.L195V	De novo	No	Uncertain significance
P15	c.865delC	Frameshift	p.R289fs*39	De novo	No	Likely pathogenic
P16	c.812T>C	Missense	p.F271S	De novo	No	Uncertain significance
P17	c.72delC	Frameshift	p.G25Afs*53	De novo	No	Pathogenic
P18	c.506G>C	Missense	p.R169P	De novo	No	Likely pathogenic
P19	c.697_699del	Deletion	p.F233del	De novo	#	Pathogenic
P20	c.697_699del	Deletion	p.F233del	De novo	#	Pathogenic
P21	c.218T>G	Missense	p.F73C	De novo	No	Likely pathogenic
P22	c.550C>T	Nonsense	p.Q184X	De novo	No	Likely pathogenic
P23	c.149_156dup	Frameshift	p.G53Pfs*28	De novo	No	Likely pathogenic
P24	c.430A>T	Nonsense	p.K144X	De novo	No	Likely pathogenic

*The stop codon; #: ref. 11.

ACMG American College of Medical Genetics and Genomic.

^aNM_005859.4.

^bNP_005850.1.