ClinVar for MedGen (Select 340091) - ClinVar

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

Links from MedGen

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061792	NM_014251.3(SLC25A13):c.1349A>G (p.Glu450Gly)	SLC25A13 (E450G +1 more)	Single nucleotide variant (missense variant +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency	GUncertain significance
Select item 2442009	NM_014251.3(SLC25A13):c.1452+5C>G	SLC25A13	Single nucleotide variant (intron variant)	Neonatal intrahepatic cholestasis due to citrin deficiency	GUncertain significance
Select item 1706616	NM_014251.3(SLC25A13):c.1474C>T (p.Arg492Trp)	SLC25A13 (R492W +1 more)	Single nucleotide variant (missense variant +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency	GPathogenic
Select item 1695400	NM_014251.3(SLC25A13):c.1751-5_1751-4insGATTTCTCCA	SLC25A13	Insertion (intron variant)	Neonatal intrahepatic cholestasis due to citrin deficiency	GPathogenic
Select item 1695399	NM_014251.3(SLC25A13):c.70-63_132del	SLC25A13	Deletion (splice acceptor variant)	Neonatal intrahepatic cholestasis due to citrin deficiency	GPathogenic
Select item 1695398	NM_014251.3(SLC25A13):c.[1956C>A;1962del]	SLC25A13 (N652K +3 more)	Single nucleotide variant (missense variant +2 more)	Neonatal intrahepatic cholestasis due to citrin deficiency	GPathogenic
Select item 1451920	NM_014251.3(SLC25A13):c.754G>A (p.Glu252Lys)	SLC25A13 (E252K)	Single nucleotide variant (missense variant +1 more)	Citrullinemia, type II, adult-onset +3 more	GPathogenic/Likely pathogenic
Select item 1388183	NM_014251.3(SLC25A13):c.1453-2A>T	SLC25A13	Single nucleotide variant (splice acceptor variant)	Neonatal intrahepatic cholestasis due to citrin deficiency +2 more	GPathogenic
Select item 1361947	NM_014251.3(SLC25A13):c.127C>T (p.Arg43Ter)	SLC25A13 (R43*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1348003	NM_014251.3(SLC25A13):c.1637C>G (p.Thr546Arg)	SLC25A13 (T546R +1 more)	Single nucleotide variant (missense variant +1 more)	Citrullinemia, type II, adult-onset +3 more	GConflicting classifications of pathogenicity
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
Select item 1207220	NM_014251.3(SLC25A13):c.1157G>C (p.Gly386Ala)	SLC25A13 (G386A +1 more)	Single nucleotide variant (missense variant +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency +2 more	GUncertain significance
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 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 939098	NM_014251.3(SLC25A13):c.1399C>T (p.Arg467Ter)	SLC25A13 (R467* +1 more)	Single nucleotide variant (nonsense +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency +3 more	GPathogenic
Select item 855835	NM_014251.3(SLC25A13):c.1048G>A (p.Asp350Asn)	SLC25A13 (D351N +1 more)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency +3 more	GPathogenic/Likely pathogenic
Select item 850379	NM_014251.3(SLC25A13):c.848+3A>C	SLC25A13	Single nucleotide variant (intron variant)	Neonatal intrahepatic cholestasis due to citrin deficiency +3 more	GConflicting classifications of pathogenicity
Select item 850244	NM_014251.3(SLC25A13):c.1453-1G>A	SLC25A13	Single nucleotide variant (splice acceptor variant)	SLC25A13-related disorder +2 more	GPathogenic
Select item 849656	NM_014251.3(SLC25A13):c.135G>C (p.Leu45Phe)	SLC25A13 (L45F)	Single nucleotide variant (missense variant +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency +2 more	GConflicting classifications of pathogenicity
Select item 813457	NM_014251.3(SLC25A13):c.699del (p.Arg234fs)	SLC25A13 (R234fs)	Deletion (frameshift variant +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency	GLikely pathogenic
Select item 813456	NM_014251.3(SLC25A13):c.1121del (p.Ser374fs)	SLC25A13 (S375fs +1 more)	Deletion (frameshift variant +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency	GLikely pathogenic
Select item 813455	NM_014251.3(SLC25A13):c.1231G>A (p.Val411Met)	SLC25A13 (V411M +1 more)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency +2 more	GPathogenic/Likely pathogenic
Select item 813454	NM_014251.3(SLC25A13):c.1336A>C (p.Thr446Pro)	SLC25A13 (T446P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 590804	NM_014251.3(SLC25A13):c.493C>T (p.Gln165Ter)	SLC25A13 (Q165*)	Single nucleotide variant (nonsense +1 more)	Citrullinemia, type II, adult-onset +1 more	GPathogenic
Select item 590803	NM_014251.3(SLC25A13):c.1664_1665insAGATTACAGGTGGCTGCCCGGGG (p.Gln556fs)	SLC25A13 (Q557fs +1 more)	Microsatellite (frameshift variant +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency	GPathogenic
Select item 587600	NM_014251.3(SLC25A13):c.1267G>A (p.Asp423Asn)	SLC25A13 (D423N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 498687	NM_014251.3(SLC25A13):c.1814G>A (p.Arg605Gln)	SLC25A13 (R605Q +1 more)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency +4 more	GUncertain significance
Select item 417947	NM_014251.3(SLC25A13):c.468+1G>C	SLC25A13	Single nucleotide variant (splice donor variant)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 361031	NM_014251.3(SLC25A13):c.-115G>T	LOC129998833, SLC25A13	Single nucleotide variant (5 prime UTR variant +1 more)	Citrullinemia type I +3 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 361010	NM_014251.3(SLC25A13):c.1945G>C (p.Gly649Arg)	SLC25A13 (G649R +1 more)	Single nucleotide variant (missense variant +1 more)	Citrullinemia type I +6 more	GConflicting classifications of pathogenicity
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 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 252924	NM_014251.3(SLC25A13):c.495del (p.Ala166fs)	SLC25A13 (A166fs)	Deletion (frameshift variant +1 more)	Neonatal intrahepatic cholestasis due to 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 252922	NM_014251.3(SLC25A13):c.1311C>T (p.Cys437=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	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 +3 more	GConflicting classifications of pathogenicity
Select item 252920	NM_014251.3(SLC25A13):c.775C>T (p.Gln259Ter)	SLC25A13 (Q259*)	Single nucleotide variant (nonsense +1 more)	Citrullinemia, type II, adult-onset +1 more	GPathogenic
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 225472	NM_014251.3(SLC25A13):c.852_855del (p.Met285fs)	SLC25A13 (M285fs)	Deletion (frameshift variant +1 more)	not provided +5 more	GPathogenic
Select item 203938	NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala)	SLC25A13 (V637A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 193371	NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr)	LOC129998833, SLC25A13 (M1T)	Single nucleotide variant (missense variant +2 more)	Citrullinemia, type II, adult-onset +6 more	GUncertain significance
Select item 92110	NM_014251.3(SLC25A13):c.1064G>A (p.Arg355Gln)	SLC25A13 (R355Q +1 more)	Single nucleotide variant (missense variant +1 more)	Citrullinemia, type II, adult-onset +2 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
Select item 21516	NM_014251.3(SLC25A13):c.615+1G>C	SLC25A13	Single nucleotide variant (splice donor variant)	Neonatal intrahepatic cholestasis due to citrin deficiency	Gnot provided
Select item 21515	NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter)	SLC25A13 (R184*)	Single nucleotide variant (nonsense +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency +3 more	GPathogenic
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 21513	NM_014251.3(SLC25A13):c.1801G>T (p.Glu601Ter)	SLC25A13 (E601* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrin deficiency +1 more	GPathogenic
Select item 21512	NM_014251.3(SLC25A13):c.1801G>A (p.Glu601Lys)	SLC25A13 (E601K +1 more)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency +2 more	GConflicting classifications of pathogenicity
Select item 21510	NM_014251.3(SLC25A13):c.15G>A (p.Lys5=)	SLC25A13, LOC129998833	Single nucleotide variant (synonymous variant +1 more)	Citrullinemia, type II, adult-onset +1 more	GPathogenic/Likely pathogenic
Select item 21509	NM_014251.3(SLC25A13):c.1592G>A (p.Gly531Asp)	SLC25A13 (G531D +1 more)	Single nucleotide variant (missense variant +1 more)	Citrullinemia, type II, adult-onset +1 more	GLikely pathogenic
Select item 6007	NM_014251.3(SLC25A13):c.1763G>A (p.Arg588Gln)	SLC25A13 (R588Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 6005	NM_014251.3(SLC25A13):c.1311+1G>A	SLC25A13	Single nucleotide variant (splice donor variant)	Citrin deficiency +3 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 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 6002	NM_014251.3(SLC25A13):c.1177+1G>A	SLC25A13	Single nucleotide variant (splice donor variant)	Citrullinemia, type II, adult-onset +3 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 58