. 2022 Feb 22;13:743472. doi: 10.3389/fgene.2022.743472

TABLE 2.

Genetic variants in TRIM63 gene of Patient 1 and Patient 2.

Patient	Pathogenicity		Gene	Position GRCh37 and nomenclature	rs	MAF,%
Patient	ACMG	ClinVar	Gene	Position GRCh37 and nomenclature	rs	MAF,%
1	VUS	—	TRIM63	Chr1: 26393871:A>C	—	—
	VUS	—	TRIM63	NM_032588: c.T115G:p.C39G	—	—
	VUS	Pathogenic	TRIM63	Chr1: 26387675:ACT>A	rs540072010	0.004
	VUS	Pathogenic	TRIM63	NM_032588:c.481_482del:p.S161CfsTer8	rs540072010	0.004
2	VUS	Likely pathogenic	TRIM63	Chr1: 26384973G>A	rs14839503	0.07
	VUS	Likely pathogenic	TRIM63	NM_032588: c.739C>T: p.Q247X	rs14839503	0.07
	VUS	—	TRIM63	Chr1: 26392867C>T	rs200811483	0.01
	VUS	—	TRIM63	NM_032588: c.224G>A: p.C75Y	rs200811483	0.01

ACMG, American College of Medical Genetics; MAF, minor allele frequency; VUS, variant of unknown significance.