C1863844[trait identifier] AND "GeneReviews"[submitter] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21514	NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter)	SLC25A13 (R605* +1 more)	Single nucleotide variant (nonsense +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency +4 more	GPathogenic/Likely pathogenic
Select item 6006	NM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter)	SLC25A13 (Y600* +1 more)	Duplication (nonsense +1 more)	Citrullinemia, type II, adult-onset +2 more	GPathogenic
Select item 6003	NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs)	SLC25A13 (A555fs +1 more)	Duplication (frameshift variant +1 more)	Citrullinemia, type II, adult-onset +4 more	GPathogenic
Select item 6005	NM_014251.3(SLC25A13):c.1311+1G>A	SLC25A13	Single nucleotide variant (splice donor variant)	Citrin deficiency +3 more	GPathogenic
Select item 6002	NM_014251.3(SLC25A13):c.1177+1G>A	SLC25A13	Single nucleotide variant (splice donor variant)	Citrullinemia, type II, adult-onset +3 more	GPathogenic
Select item 21508	NM_014251.3(SLC25A13):c.1078C>T (p.Arg360Ter)	SLC25A13 (R360* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrin deficiency +2 more	GPathogenic/Likely pathogenic
Select item 225472	NM_014251.3(SLC25A13):c.852_855del (p.Met285fs)	SLC25A13 (M285fs)	Deletion (frameshift variant +1 more)	not provided +5 more	GPathogenic
Select item 6004	NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter)	SLC25A13 (S225*)	Single nucleotide variant (nonsense +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency +3 more	GPathogenic
Select item 21517	NM_014251.3(SLC25A13):c.615+5G>A	SLC25A13	Single nucleotide variant (intron variant)	not provided +4 more	GPathogenic/Likely pathogenic