ClinVar (all) for Orgtrack (Select 507816) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 984437	NM_014251.3(SLC25A13):c.69+5G>A	SLC25A13	Single nucleotide variant (intron variant)	Neonatal intrahepatic cholestasis due to citrin deficiency	GPathogenic
Select item 850244	NM_014251.3(SLC25A13):c.1453-1G>A	SLC25A13	Single nucleotide variant (splice acceptor variant)	SLC25A13-related disorder +2 more	GPathogenic