C1853942[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 967116	NM_014251.3(SLC25A13):c.1420G>A (p.Val474Met)	SLC25A13 (V474M +1 more)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency +4 more	GUncertain significance
Select item 361018	NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency +4 more	GConflicting classifications of pathogenicity
Select item 260370	NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	not provided +6 more	GBenign
Select item 260371	NM_014251.3(SLC25A13):c.328+6A>G	SLC25A13	Single nucleotide variant (intron variant)	Citrullinemia type I +6 more	GBenign
Select item 596568	NM_014251.3(SLC25A13):c.185G>A (p.Ser62Asn)	SLC25A13 (S62N)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency +3 more	GUncertain significance
Select item 1209794	NM_014251.3(SLC25A13):c.73G>A (p.Ala25Thr)	SLC25A13 (A25T)	Single nucleotide variant (missense variant +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency +2 more	GUncertain significance

ClinVar