TABLE 1.

Patients with rare nonsynonymous variants in liver panel genes.

Patient	Disease	Gene	Variation
			Type	Change	Status	AF	ACMG‐AMP
							Classification	Criteria
P1	rELT	ACOX2	Missense	NM_003500.4:c.674G > A:p.Arg225Gln	Hom	5.14E‐05	VUS	PM1, PP3, PM5
P2	rELT	PYGL	Nonsense	NM_002863.5:c.1180G > T:p.Glu394*	Hom	‐	P	PVS1, PM2, PP3
		SLC27A5	Missense	NM_012254.3:c.923C > T:p.Thr308Met	Hom	1.86E‐05	VUS	PM1, PM2, PP3
P3	rELT	PHKA2	Missense	NM_000292.3:c.556C > T:p.Arg186Cys	Hem	9.26E‐07	P	PS1, PM1, PM2, PP3, PP5
P4	rELT	ABCB4	Missense	NM_000443.4:c.2950G > A:p.Ala984Thr	Hom	1.37E‐06	LP	PS1, PM2, PP3, BP1
P5	ALF	CDAN1	Missense	NM_138477.2:c.1945C > T:p.Arg649Trp	Hom	3.28E‐05	LP	PS1, PM2, PP3
P6	rELT	JAG1	Missense	NM_000214.3:c.322A > C:p.Asn108His	Het	2.05E‐06	VUS	PM2, PP3, BP1
		PCK2	Missense	NM_004563.4:c.644G > A:p.Gly215Asp	Hom	2.01E‐04	VUS	PM1, PM2, PP3, BP1
		VPS33B	Missense	NM_018668.5:c.1209G > T:p.Leu403Phe	Hom	1.37E‐06	VUS	PM1, PM2, PP3, BP1

Abbreviations: AF: overall allele frequency in gnomAD v4.1.0 (as of May 08, 2024); Hom, Homozygous, Hem, Hemizygous, Het: Heterozygous, VUS, variant of uncertain significance, P: Pathogenic, LP: Likely pathogenic.