"PreventionGenetics, part of Exact Sciences"[submitter] AND "SLC25A13" - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 203938	NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala)	SLC25A13 (V637A +1 more)	Single nucleotide variant (missense variant +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency +5 more	GConflicting classifications of pathogenicity
Select item 1159154	NM_014251.3(SLC25A13):c.1896G>A (p.Pro632=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency +1 more	GLikely benign
Select item 760633	NM_014251.3(SLC25A13):c.1751-4_1751-3insT	SLC25A13	Insertion (intron variant)	Citrin deficiency +1 more	GLikely benign
Select item 1609420	NM_014251.3(SLC25A13):c.1740G>A (p.Lys580=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	SLC25A13-related disorder +1 more	GLikely benign
Select item 1366531	NM_014251.3(SLC25A13):c.1711C>T (p.Arg571Cys)	SLC25A13 (R571C +1 more)	Single nucleotide variant (missense variant +1 more)	SLC25A13-related disorder +1 more	GUncertain significance
Select item 501938	NM_014251.3(SLC25A13):c.1665C>T (p.Gly555=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	SLC25A13-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3047814	NM_014251.3(SLC25A13):c.1657C>T (p.Arg553Trp)	SLC25A13 (R553W +1 more)	Single nucleotide variant (missense variant +1 more)	SLC25A13-related disorder	GUncertain significance
Select item 969422	NM_014251.3(SLC25A13):c.1653_1655del (p.Ala552del)	SLC25A13 (A552del +1 more)	Deletion (inframe_deletion +1 more)	SLC25A13-related disorder +1 more	GUncertain significance
Select item 1348003	NM_014251.3(SLC25A13):c.1637C>G (p.Thr546Arg)	SLC25A13 (T546R +1 more)	Single nucleotide variant (missense variant +1 more)	SLC25A13-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 501902	NM_014251.3(SLC25A13):c.1618C>T (p.Pro540Ser)	SLC25A13 (P540S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2637135	NM_014251.3(SLC25A13):c.1564A>T (p.Ser522Cys)	SLC25A13 (S522C +1 more)	Single nucleotide variant (missense variant +1 more)	SLC25A13-related disorder	GUncertain significance
Select item 3029640	NM_014251.3(SLC25A13):c.1544A>T (p.Asp515Val)	SLC25A13 (D515V +1 more)	Single nucleotide variant (missense variant +1 more)	SLC25A13-related disorder	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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1623582	NM_014251.3(SLC25A13):c.1464A>C (p.Ala488=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency +1 more	GLikely benign
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 2442009	NM_014251.3(SLC25A13):c.1452+5C>G	SLC25A13	Single nucleotide variant (intron variant)	Neonatal intrahepatic cholestasis due to citrin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 598534	NM_014251.3(SLC25A13):c.1451A>G (p.Lys484Arg)	SLC25A13 (K484R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2073364	NM_014251.3(SLC25A13):c.1424G>A (p.Arg475Gln)	SLC25A13 (R475Q +1 more)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency +1 more	GUncertain significance
Select item 766612	NM_014251.3(SLC25A13):c.1344T>C (p.Pro448=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency +1 more	GLikely benign
Select item 813454	NM_014251.3(SLC25A13):c.1336A>C (p.Thr446Pro)	SLC25A13 (T446P +1 more)	Single nucleotide variant (missense variant +1 more)	Citrullinemia, type II, adult-onset +2 more	GConflicting classifications of pathogenicity
Select item 361017	NM_014251.3(SLC25A13):c.1311+3A>G	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency +4 more	GConflicting classifications of pathogenicity
Select item 361018	NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency +5 more	GConflicting classifications of pathogenicity
Select item 2183601	NM_014251.3(SLC25A13):c.1274C>T (p.Ser425Leu)	SLC25A13 (S425L +1 more)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency +1 more	GUncertain significance
Select item 385583	NM_014251.3(SLC25A13):c.1236C>T (p.Asn412=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	SLC25A13-related disorder +3 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)	Citrullinemia type I +6 more	GBenign
Select item 3044951	NM_014251.3(SLC25A13):c.1083A>C (p.Ser361=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	SLC25A13-related disorder	GLikely benign
Select item 1459235	NM_014251.3(SLC25A13):c.1075C>T (p.Gln359Ter)	SLC25A13 (Q359* +1 more)	Single nucleotide variant (nonsense +1 more)	SLC25A13-related disorder +1 more	GPathogenic
Select item 499617	NM_014251.3(SLC25A13):c.960A>G (p.Pro320=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	SLC25A13-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 287001	NM_014251.3(SLC25A13):c.882T>C (p.Ala294=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	SLC25A13-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 225472	NM_014251.3(SLC25A13):c.852_855del (p.Met285fs)	SLC25A13 (M285fs)	Deletion (frameshift variant +1 more)	SLC25A13-related disorder +5 more	GPathogenic
Select item 386284	NM_014251.3(SLC25A13):c.849-4A>G	SLC25A13	Single nucleotide variant (intron variant)	SLC25A13-related disorder +2 more	GLikely benign
Select item 384766	NM_014251.3(SLC25A13):c.848+9G>T	SLC25A13	Single nucleotide variant (intron variant)	SLC25A13-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 802338	NM_014251.3(SLC25A13):c.848+1G>T	SLC25A13	Single nucleotide variant (splice donor variant)	Citrullinemia, type II, adult-onset +3 more	GPathogenic/Likely pathogenic
Select item 2629836	NM_014251.3(SLC25A13):c.848G>C (p.Gly283Ala)	SLC25A13 (G283A)	Single nucleotide variant (missense variant +1 more)	SLC25A13-related disorder	GUncertain significance
Select item 3031677	NM_014251.3(SLC25A13):c.755-8C>A	SLC25A13	Single nucleotide variant (intron variant)	SLC25A13-related disorder	GLikely benign
Select item 21517	NM_014251.3(SLC25A13):c.615+5G>A	SLC25A13	Single nucleotide variant (intron variant)	Neonatal intrahepatic cholestasis due to citrin deficiency +5 more	GPathogenic/Likely pathogenic
Select item 1170718	NM_014251.3(SLC25A13):c.576C>G (p.Pro192=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency +1 more	GBenign/Likely benign
Select item 1423505	NM_014251.3(SLC25A13):c.551G>A (p.Arg184Gln)	SLC25A13 (R184Q)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency +1 more	GUncertain significance
Select item 1105608	NM_014251.3(SLC25A13):c.534C>T (p.Val178=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	SLC25A13-related disorder +1 more	GLikely benign
Select item 1130585	NM_014251.3(SLC25A13):c.483G>A (p.Glu161=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	SLC25A13-related disorder +1 more	GLikely benign
Select item 703307	NM_014251.3(SLC25A13):c.408A>G (p.Leu136=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	SLC25A13-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 260371	NM_014251.3(SLC25A13):c.328+6A>G	SLC25A13	Single nucleotide variant (intron variant)	Citrullinemia, type II, adult-onset +6 more	GBenign
Select item 748636	NM_014251.3(SLC25A13):c.306T>C (p.Ala102=)	SLC25A13	Single nucleotide variant (synonymous variant)	Citrin deficiency +1 more	GBenign/Likely benign
Select item 260372	NM_014251.3(SLC25A13):c.93T>C (p.Gly31=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency +2 more	GBenign
Select item 390887	NM_014251.3(SLC25A13):c.15+9G>A	LOC129998833, SLC25A13	Single nucleotide variant (intron variant)	SLC25A13-related disorder +2 more	GLikely benign
Select item 361027	NM_014251.3(SLC25A13):c.6G>T (p.Ala2=)	LOC129998833, SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency +3 more	GConflicting classifications of pathogenicity

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Items: 46