ClinVar for MedGen (Select 350276) - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2577098	NM_014251.3(SLC25A13):c.103A>G (p.Met35Val)	SLC25A13 (M35V)	Single nucleotide variant (missense variant +1 more)	Citrullinemia type II	GLikely pathogenic
Select item 2504051	NM_014251.3(SLC25A13):c.1307_1308delinsAA (p.Gly436Glu)	SLC25A13 (G436E +1 more)	Indel (missense variant +1 more)	Citrullinemia type II	GLikely pathogenic
Select item 1696310	NM_014251.3(SLC25A13):c.1210G>T (p.Glu404Ter)	SLC25A13 (E404* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrullinemia type II	GLikely pathogenic
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 1451917	NM_014251.3(SLC25A13):c.1095del (p.Phe365fs)	SLC25A13 (F365fs +1 more)	Deletion (frameshift variant +1 more)	Citrullinemia, type II, adult-onset +2 more	GPathogenic
Select item 934709	NM_014251.3(SLC25A13):c.1637C>T (p.Thr546Met)	SLC25A13 (T546M +1 more)	Single nucleotide variant (missense variant +1 more)	Citrullinemia type II +2 more	GLikely pathogenic
Select item 912283	NM_014251.2(SLC25A13):c.-205G>T	LOC129998833, SLC25A13	Single nucleotide variant	Citrullinemia type II	GUncertain significance
Select item 912282	NM_014251.2(SLC25A13):c.-203C>A	LOC129998833, SLC25A13	Single nucleotide variant	Citrullinemia type II	GUncertain significance
Select item 912281	NM_014251.3(SLC25A13):c.-99C>A	LOC129998833, SLC25A13	Single nucleotide variant (5 prime UTR variant +1 more)	Citrullinemia type II	GUncertain significance
Select item 912218	NM_014251.3(SLC25A13):c.1419C>T (p.Val473=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 912152	NM_014251.3(SLC25A13):c.*881T>G	SLC25A13	Single nucleotide variant (3 prime UTR variant +1 more)	Citrullinemia type II	GUncertain significance
Select item 911046	NM_014251.3(SLC25A13):c.16-4A>G	SLC25A13	Single nucleotide variant (intron variant)	Citrullinemia type II	GUncertain significance
Select item 911045	NM_014251.3(SLC25A13):c.90C>T (p.Asn30=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 910988	NM_014251.3(SLC25A13):c.1823A>G (p.Tyr608Cys)	SLC25A13 (Y608C +1 more)	Single nucleotide variant (missense variant +1 more)	Citrullinemia type II	GUncertain significance
Select item 910160	NM_014251.3(SLC25A13):c.508C>T (p.Arg170Trp)	SLC25A13 (R170W)	Single nucleotide variant (missense variant +1 more)	Citrullinemia type II	GUncertain significance
Select item 910159	NM_014251.3(SLC25A13):c.633A>C (p.Thr211=)	SLC25A13	Single nucleotide variant (non-coding transcript variant +1 more)	Citrin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 910158	NM_014251.3(SLC25A13):c.701G>C (p.Arg234Thr)	SLC25A13 (R234T)	Single nucleotide variant (missense variant +1 more)	Citrullinemia type II	GUncertain significance
Select item 910096	NM_014251.3(SLC25A13):c.*40C>T	SLC25A13	Single nucleotide variant (3 prime UTR variant +1 more)	Citrullinemia type II	GUncertain significance
Select item 910095	NM_014251.3(SLC25A13):c.*93G>A	SLC25A13	Single nucleotide variant (3 prime UTR variant +1 more)	Citrullinemia type II	GUncertain significance
Select item 910094	NM_014251.3(SLC25A13):c.*280G>T	SLC25A13	Single nucleotide variant (3 prime UTR variant +1 more)	Citrullinemia type II	GUncertain significance
Select item 908214	NM_014251.3(SLC25A13):c.1019-6T>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 908143	NM_014251.3(SLC25A13):c.*622C>T	SLC25A13	Single nucleotide variant (3 prime UTR variant +1 more)	Citrullinemia type II	GUncertain significance
Select item 908142	NM_014251.3(SLC25A13):c.*750T>C	SLC25A13	Single nucleotide variant (3 prime UTR variant +1 more)	Citrullinemia type II	GUncertain significance
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 +2 more	GPathogenic/Likely pathogenic
Select item 751781	NM_014251.3(SLC25A13):c.666A>C (p.Gly222=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 703307	NM_014251.3(SLC25A13):c.408A>G (p.Leu136=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	SLC25A13-related condition +2 more	GConflicting classifications of pathogenicity
Select item 697987	NM_014251.3(SLC25A13):c.1374G>A (p.Val458=)	SLC25A13	Single nucleotide variant (non-coding transcript variant +1 more)	Citrin deficiency +2 more	GBenign
Select item 632513	NM_014251.3(SLC25A13):c.1916del (p.Gly639fs)	SLC25A13 (G639fs +1 more)	Deletion (frameshift variant +1 more)	Citrullinemia type II	GUncertain significance
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 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 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 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 587600	NM_014251.3(SLC25A13):c.1267G>A (p.Asp423Asn)	SLC25A13 (D423N +1 more)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency +4 more	GUncertain significance
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 449394	NM_014251.3(SLC25A13):c.1063C>T (p.Arg355Ter)	SLC25A13 (R355* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrullinemia, type II, adult-onset +3 more	GConflicting classifications of pathogenicity
Select item 417947	NM_014251.3(SLC25A13):c.468+1G>C	SLC25A13	Single nucleotide variant (splice donor variant)	Citrullinemia type II +1 more	GLikely pathogenic
Select item 361033	NM_014251.2(SLC25A13):c.-160C>T	LOC129998833, SLC25A13	Single nucleotide variant	Citrullinemia type I +1 more	GUncertain significance
Select item 361032	NM_014251.3(SLC25A13):c.-127G>A	LOC129998833, SLC25A13	Single nucleotide variant (5 prime UTR variant +1 more)	Citrullinemia type I +1 more	GUncertain significance
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 361030	NM_014251.3(SLC25A13):c.-107G>A	LOC129998833, SLC25A13	Single nucleotide variant (5 prime UTR variant +1 more)	Citrullinemia type II +1 more	GUncertain significance
Select item 361028	NM_014251.3(SLC25A13):c.-10G>A	LOC129998833, SLC25A13	Single nucleotide variant (5 prime UTR variant +1 more)	Citrullinemia type I +1 more	GUncertain significance
Select item 361027	NM_014251.3(SLC25A13):c.6G>T (p.Ala2=)	SLC25A13, LOC129998833	Single nucleotide variant (synonymous variant +1 more)	SLC25A13-related condition +3 more	GConflicting classifications of pathogenicity
Select item 361026	NM_014251.3(SLC25A13):c.421G>A (p.Glu141Lys)	SLC25A13 (E141K)	Single nucleotide variant (missense variant +1 more)	Citrullinemia type I +2 more	GUncertain significance
Select item 361025	NM_014251.3(SLC25A13):c.675G>A (p.Ser225=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrullinemia type I +3 more	GBenign/Likely benign
Select item 361024	NM_014251.3(SLC25A13):c.711T>C (p.Tyr237=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency +2 more	GConflicting classifications of pathogenicity
Select item 361022	NM_014251.3(SLC25A13):c.1088G>T (p.Gly363Val)	SLC25A13 (G363V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Citrullinemia type I +3 more	GConflicting classifications of pathogenicity
Select item 361021	NM_014251.3(SLC25A13):c.1177+5G>A	SLC25A13	Single nucleotide variant (intron variant)	Citrullinemia type II +1 more	GUncertain significance
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 361019	NM_014251.3(SLC25A13):c.1230+11T>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency +2 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 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 361015	NM_014251.3(SLC25A13):c.1313C>T (p.Ala438Val)	SLC25A13 (A438V +1 more)	Single nucleotide variant (missense variant +1 more)	Citrullinemia type I +1 more	GUncertain significance
Select item 361014	NM_014251.3(SLC25A13):c.1393G>T (p.Gly465Cys)	SLC25A13 (G465C +1 more)	Single nucleotide variant (missense variant +1 more)	Citrullinemia type II +1 more	GUncertain significance
Select item 361013	NM_014251.3(SLC25A13):c.1671C>T (p.Thr557=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 361012	NM_014251.3(SLC25A13):c.1797T>A (p.Thr599=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency +2 more	GConflicting classifications of pathogenicity
Select item 361011	NM_014251.3(SLC25A13):c.1884C>T (p.Asn628=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrullinemia type I +3 more	GBenign/Likely benign
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 +4 more	GUncertain significance
Select item 361009	NM_014251.3(SLC25A13):c.*72G>A	SLC25A13	Single nucleotide variant (3 prime UTR variant +1 more)	Citrullinemia type I +1 more	GUncertain significance
Select item 361008	NM_014251.3(SLC25A13):c.*175A>G	SLC25A13	Single nucleotide variant (3 prime UTR variant +1 more)	Citrullinemia type I +2 more	GBenign/Likely benign
Select item 361007	NM_014251.3(SLC25A13):c.*191T>C	SLC25A13	Single nucleotide variant (3 prime UTR variant +1 more)	Citrullinemia type II +1 more	GUncertain significance
Select item 361006	NM_014251.3(SLC25A13):c.*310C>T	SLC25A13	Single nucleotide variant (3 prime UTR variant +1 more)	Citrullinemia type II +1 more	GUncertain significance
Select item 361005	NM_014251.3(SLC25A13):c.*330G>T	SLC25A13	Single nucleotide variant (3 prime UTR variant +1 more)	Citrullinemia type II +1 more	GUncertain significance
Select item 361004	NM_014251.3(SLC25A13):c.*507T>C	SLC25A13	Single nucleotide variant (3 prime UTR variant +1 more)	Citrullinemia type II +1 more	GUncertain significance
Select item 361003	NM_014251.3(SLC25A13):c.*517A>G	SLC25A13	Single nucleotide variant (3 prime UTR variant +1 more)	Citrullinemia type II +1 more	GUncertain significance
Select item 361002	NM_014251.3(SLC25A13):c.*570G>A	SLC25A13	Single nucleotide variant (3 prime UTR variant +1 more)	Citrullinemia type I +1 more	GConflicting classifications of pathogenicity
Select item 361001	NM_014251.3(SLC25A13):c.*729G>A	SLC25A13	Single nucleotide variant (3 prime UTR variant +1 more)	Citrullinemia type I +1 more	GUncertain significance
Select item 361000	NM_014251.3(SLC25A13):c.*792C>T	SLC25A13	Single nucleotide variant (3 prime UTR variant +1 more)	Citrullinemia type I +1 more	GConflicting classifications of pathogenicity
Select item 360999	NM_014251.3(SLC25A13):c.*909C>G	SLC25A13	Single nucleotide variant (3 prime UTR variant +1 more)	Citrullinemia type I +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 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 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 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 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 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 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 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
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 +3 more	GConflicting classifications of pathogenicity
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 21514	NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter)	SLC25A13 (R605* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrullinemia, type II, adult-onset +4 more	GPathogenic/Likely pathogenic
Select item 21508	NM_014251.3(SLC25A13):c.1078C>T (p.Arg360Ter)	SLC25A13 (R360* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrullinemia, type II, adult-onset +2 more	GPathogenic/Likely pathogenic
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 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 +2 more	GPathogenic
Select item 6004	NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter)	SLC25A13 (S225*)	Single nucleotide variant (nonsense +1 more)	Citrullinemia, type II, adult-onset +3 more	GPathogenic
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 6002	NM_014251.3(SLC25A13):c.1177+1G>A	SLC25A13	Single nucleotide variant (splice donor variant)	Neonatal intrahepatic cholestasis due to citrin deficiency +3 more	GPathogenic

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Items: 86