"Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital"[submi - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 252919	NM_014251.3(SLC25A13):c.1958A>G (p.Lys653Arg)	SLC25A13 (K653R +1 more)	Single nucleotide variant (missense variant +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency	GUncertain significance
Select item 252921	NM_014251.3(SLC25A13):c.1505C>T (p.Pro502Leu)	SLC25A13 (P502L +1 more)	Single nucleotide variant (missense variant +1 more)	Citrullinemia, type II, adult-onset +4 more	GConflicting classifications of pathogenicity
Select item 252922	NM_014251.3(SLC25A13):c.1311C>T (p.Cys437=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GUncertain significance
Select item 252920	NM_014251.3(SLC25A13):c.775C>T (p.Gln259Ter)	SLC25A13 (Q259*)	Single nucleotide variant (nonsense +1 more)	Citrin deficiency	GPathogenic
Select item 252923	NM_014251.3(SLC25A13):c.616-11A>G	SLC25A13	Single nucleotide variant (intron variant)	Neonatal intrahepatic cholestasis due to citrin deficiency	GUncertain significance
Select item 252924	NM_014251.3(SLC25A13):c.495del (p.Ala166fs)	SLC25A13 (A166fs)	Deletion (frameshift variant +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency	GPathogenic

ClinVar