Table 3.

Genetic variants of the GHR gene in patients with Laron Syndrome.

Patient	Exon	Nucleotide	Protein	rs number	Homozygote/Heterozygote	Novel	Clinical Significance
P1	Exon 10	c.1483C>A	p.P495T	6183	Heterozygote	No	Likely benign
	Exon 10	c.1630A>C	p.I544L	6180	Heterozygote	No	benign
P2	Exon 8	c.808 A>G	p.I270V		Homozygote	Yes	Uncertain significance
P3	Exon 7	c.766C>T	p.Q256*		Heterozygote	No	pathogenic
P4	Exon 6	c.587A>C	p.Y196S	747888560	Heterozygote	No	Likely pathogenic
	Exon 10	c.1707_1710del	p.E570Afs*30		Heterozygote	Yes	pathogenic