"Eurofins Ntd Llc (ga)"[submitter] AND "SLC25A13"[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 II +4 more	GUncertain significance
Select item 594432	NM_014251.3(SLC25A13):c.1943C>T (p.Ala648Val)	SLC25A13 (A648V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 499995	NM_014251.3(SLC25A13):c.1916G>A (p.Gly639Asp)	SLC25A13 (G639D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 +5 more	GConflicting classifications of pathogenicity
Select item 595001	NM_014251.3(SLC25A13):c.1909G>C (p.Val637Leu)	SLC25A13 (V637L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 500261	NM_014251.3(SLC25A13):c.1824C>T (p.Tyr608=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency +1 more	GConflicting classifications of pathogenicity
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 +3 more	GUncertain significance
Select item 595243	NM_014251.3(SLC25A13):c.1800C>T (p.Tyr600=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 597777	NM_014251.3(SLC25A13):c.1779T>G (p.Phe593Leu)	SLC25A13 (F593L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 6007	NM_014251.3(SLC25A13):c.1763G>A (p.Arg588Gln)	SLC25A13 (R588Q +1 more)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency +3 more	GConflicting classifications of pathogenicity
Select item 501137	NM_014251.3(SLC25A13):c.1754G>A (p.Arg585His)	SLC25A13 (R585H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 598445	NM_014251.3(SLC25A13):c.1751-5del	SLC25A13	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 594108	NM_014251.3(SLC25A13):c.1710G>T (p.Leu570=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 594072	NM_014251.3(SLC25A13):c.1695C>T (p.Cys565=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 499592	NM_014251.3(SLC25A13):c.1681G>A (p.Gly561Arg)	SLC25A13 (G561R +1 more)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency +1 more	GUncertain significance
Select item 290076	NM_014251.3(SLC25A13):c.1680C>T (p.Ser560=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency +3 more	GConflicting classifications of pathogenicity
Select item 361013	NM_014251.3(SLC25A13):c.1671C>T (p.Thr557=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrullinemia type II +4 more	GBenign/Likely benign
Select item 595244	NM_014251.3(SLC25A13):c.1667A>G (p.Gln556Arg)	SLC25A13 (Q556R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 501938	NM_014251.3(SLC25A13):c.1665C>T (p.Gly555=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency +2 more	GConflicting classifications of pathogenicity
Select item 6003	NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs)	SLC25A13 (A555fs +1 more)	Duplication (frameshift variant +1 more)	not provided +4 more	GPathogenic
Select item 597152	NM_014251.3(SLC25A13):c.1658G>A (p.Arg553Gln)	SLC25A13 (R553Q +1 more)	Single nucleotide variant (missense variant +1 more)	Citrullinemia type II +2 more	GUncertain significance
Select item 498759	NM_014251.3(SLC25A13):c.1638G>A (p.Thr546=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 593892	NM_014251.3(SLC25A13):c.1631del (p.Ile544fs)	SLC25A13 (I544fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 286778	NM_014251.3(SLC25A13):c.1631T>C (p.Ile544Thr)	SLC25A13 (I544T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
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 598168	NM_014251.3(SLC25A13):c.1591+7G>A	SLC25A13	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 497632	NM_014251.3(SLC25A13):c.1548G>A (p.Gly516=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 290112	NM_014251.3(SLC25A13):c.1506G>A (p.Pro502=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 +4 more	GConflicting classifications of pathogenicity
Select item 596918	NM_014251.3(SLC25A13):c.1475G>A (p.Arg492Gln)	SLC25A13 (R492Q +1 more)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency +1 more	GUncertain significance
Select item 598592	NM_014251.3(SLC25A13):c.1452+7T>C	SLC25A13	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 194403	NM_014251.3(SLC25A13):c.1434G>T (p.Gly478=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency +3 more	GConflicting classifications of pathogenicity
Select item 596201	NM_014251.3(SLC25A13):c.1423C>T (p.Arg475Trp)	SLC25A13 (R475W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 282810	NM_014251.3(SLC25A13):c.1364G>A (p.Arg455His)	SLC25A13 (R455H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 596092	NM_014251.3(SLC25A13):c.1354G>A (p.Val452Ile)	SLC25A13 (V452I +1 more)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency +3 more	GConflicting classifications of pathogenicity
Select item 500769	NM_014251.3(SLC25A13):c.1322C>T (p.Ser441Phe)	SLC25A13 (S441F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 361017	NM_014251.3(SLC25A13):c.1311+3A>G	SLC25A13	Single nucleotide variant (intron variant)	not provided +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)	SLC25A13-related condition +5 more	GConflicting classifications of pathogenicity
Select item 587600	NM_014251.3(SLC25A13):c.1267G>A (p.Asp423Asn)	SLC25A13 (D423N +1 more)	Single nucleotide variant (missense variant +1 more)	Citrullinemia type II +4 more	GUncertain significance
Select item 385583	NM_014251.3(SLC25A13):c.1236C>T (p.Asn412=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency +3 more	GConflicting classifications of pathogenicity
Select item 361020	NM_014251.3(SLC25A13):c.1230A>C (p.Thr410=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 592601	NM_014251.3(SLC25A13):c.1177G>A (p.Gly393Ser)	SLC25A13 (G393S +1 more)	Single nucleotide variant (missense variant +1 more)	Citrullinemia, type II, adult-onset +1 more	GConflicting classifications of pathogenicity
Select item 593885	NM_014251.3(SLC25A13):c.1147C>T (p.Arg383Cys)	SLC25A13 (R383C +1 more)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency +1 more	GUncertain significance
Select item 595408	NM_014251.3(SLC25A13):c.988T>C (p.Tyr330His)	SLC25A13 (Y330H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 499617	NM_014251.3(SLC25A13):c.960A>G (p.Pro320=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency +2 more	GConflicting classifications of pathogenicity
Select item 597299	NM_014251.3(SLC25A13):c.916G>A (p.Ala306Thr)	SLC25A13 (A306T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 500107	NM_014251.3(SLC25A13):c.884C>T (p.Pro295Leu)	SLC25A13 (P295L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 287001	NM_014251.3(SLC25A13):c.882T>C (p.Ala294=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency +2 more	GConflicting classifications of pathogenicity
Select item 598364	NM_014251.3(SLC25A13):c.875G>A (p.Arg292Gln)	SLC25A13 (R292Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 594933	NM_014251.3(SLC25A13):c.874C>T (p.Arg292Trp)	SLC25A13 (R292W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 225472	NM_014251.3(SLC25A13):c.852_855del (p.Met285fs)	SLC25A13 (M285fs)	Deletion (frameshift variant +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency +5 more	GPathogenic
Select item 597080	NM_014251.3(SLC25A13):c.851G>A (p.Arg284His)	SLC25A13 (R284H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 384766	NM_014251.3(SLC25A13):c.848+9G>T	SLC25A13	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 499396	NM_014251.3(SLC25A13):c.817T>C (p.Phe273Leu)	SLC25A13 (F273L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 498132	NM_014251.3(SLC25A13):c.800T>C (p.Met267Thr)	SLC25A13 (M267T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 595411	NM_014251.3(SLC25A13):c.790G>A (p.Val264Ile)	SLC25A13 (V264I)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency +3 more	GConflicting classifications of pathogenicity
Select item 501535	NM_014251.3(SLC25A13):c.756G>A (p.Glu252=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 597700	NM_014251.3(SLC25A13):c.635C>T (p.Ser212Phe)	SLC25A13 (S212F)	Single nucleotide variant (missense variant +1 more)	Citrullinemia type II +1 more	GUncertain significance
Select item 21517	NM_014251.3(SLC25A13):c.615+5G>A	SLC25A13	Single nucleotide variant (intron variant)	SLC25A13-related condition +5 more	GPathogenic/Likely pathogenic
Select item 501946	NM_014251.3(SLC25A13):c.571C>T (p.Arg191Cys)	SLC25A13 (R191C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 596888	NM_014251.3(SLC25A13):c.487G>A (p.Ala163Thr)	SLC25A13 (A163T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 597096	NM_014251.3(SLC25A13):c.486C>T (p.His162=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 596975	NM_014251.3(SLC25A13):c.454A>G (p.Thr152Ala)	SLC25A13 (T152A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 593450	NM_014251.3(SLC25A13):c.358A>G (p.Thr120Ala)	SLC25A13 (T120A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 286779	NM_014251.3(SLC25A13):c.235G>A (p.Val79Ile)	SLC25A13 (V79I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593997	NM_014251.3(SLC25A13):c.193G>A (p.Val65Met)	SLC25A13 (V65M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 596568	NM_014251.3(SLC25A13):c.185G>A (p.Ser62Asn)	SLC25A13 (S62N)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 581785	NM_014251.3(SLC25A13):c.158C>T (p.Pro53Leu)	SLC25A13 (P53L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 593512	NM_014251.3(SLC25A13):c.70-1G>A	SLC25A13	Single nucleotide variant (splice acceptor variant)	Citrullinemia, type II, adult-onset +2 more	GPathogenic/Likely pathogenic
Select item 195294	NM_014251.3(SLC25A13):c.51T>C (p.Leu17=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 593931	NM_014251.3(SLC25A13):c.2T>A (p.Met1Lys)	LOC129998833, SLC25A13 (M1K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 193371	NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr)	LOC129998833, SLC25A13 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided +6 more	GUncertain significance

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Items: 73