10165[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 153321	GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1	LOC110121296, LOC111365161 +110 more	Copy number loss	See cases	GPathogenic
Select item 146112	GRCh38/hg38 7q21.3(chr7:95127070-97873487)x1	ASB4, ASNS +61 more	Copy number loss	See cases	GPathogenic
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 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 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 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 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 1707378	NM_014251.3(SLC25A13):c.679_684del	SLC25A13	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 2192407	NM_014251.3(SLC25A13):c.2026T>C (p.Ter676Gln)	SLC25A13	Single nucleotide variant (stop lost +1 more)	Citrin deficiency	GUncertain significance
Select item 2159651	NM_014251.3(SLC25A13):c.2013T>C (p.Ile671=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 2421986	NM_014251.3(SLC25A13):c.2004A>G (p.Ser668=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 2112875	NM_014251.3(SLC25A13):c.1998T>C (p.Ser666=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 1931381	NM_014251.3(SLC25A13):c.1995A>G (p.Val665=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 1139371	NM_014251.3(SLC25A13):c.1986G>A (p.Lys662=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 1575086	NM_014251.3(SLC25A13):c.1983C>T (p.Phe661=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 2752339	NM_014251.3(SLC25A13):c.1977T>C (p.Pro659=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 1150953	NM_014251.3(SLC25A13):c.1972C>T (p.Leu658=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 2151518	NM_014251.3(SLC25A13):c.1971C>T (p.Tyr657=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 1695425	NM_014251.3(SLC25A13):c.1962del (p.Phe654fs)	SLC25A13 (F654fs +1 more)	Deletion (frameshift variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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 1695424	NM_014251.3(SLC25A13):c.1956C>A (p.Asn652Lys)	SLC25A13 (N652K +1 more)	Single nucleotide variant (missense variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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 1996755	NM_014251.3(SLC25A13):c.1955A>G (p.Asn652Ser)	SLC25A13 (N652S +1 more)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency	GUncertain significance
Select item 3163588	NM_014251.3(SLC25A13):c.1948A>G (p.Ile650Val)	SLC25A13 (I650V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1617050	NM_014251.3(SLC25A13):c.1944A>C (p.Ala648=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
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 2978457	NM_014251.3(SLC25A13):c.1938A>G (p.Thr646=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 1150980	NM_014251.3(SLC25A13):c.1935T>G (p.Ala645=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 1100553	NM_014251.3(SLC25A13):c.1924C>T (p.Leu642=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 1155008	NM_014251.3(SLC25A13):c.1917C>T (p.Gly639=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
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 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)	Neonatal intrahepatic cholestasis due to citrin deficiency +5 more	GConflicting classifications of pathogenicity
Select item 2435988	NM_014251.3(SLC25A13):c.1909G>A (p.Val637Ile)	SLC25A13 (V637I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1111936	NM_014251.3(SLC25A13):c.1908C>T (p.His636=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 1119435	NM_014251.3(SLC25A13):c.1905T>C (p.Asp635=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 1696309	NM_014251.3(SLC25A13):c.1904A>G (p.Asp635Gly)	SLC25A13 (D635G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1596442	NM_014251.3(SLC25A13):c.1903G>T (p.Asp635Tyr)	SLC25A13 (D635Y +1 more)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency	GLikely benign
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 2069205	NM_014251.3(SLC25A13):c.1895C>T (p.Pro632Leu)	SLC25A13 (P633L +1 more)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency	GUncertain significance
Select item 1499984	NM_014251.3(SLC25A13):c.1894C>T (p.Pro632Ser)	SLC25A13 (P633S +1 more)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency	GUncertain significance
Select item 361011	NM_014251.3(SLC25A13):c.1884C>T (p.Asn628=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrullinemia type II +3 more	GBenign/Likely benign
Select item 1103372	NM_014251.3(SLC25A13):c.1869T>C (p.Pro623=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 1660769	NM_014251.3(SLC25A13):c.1854A>C (p.Gly618=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 1636869	NM_014251.3(SLC25A13):c.1845A>G (p.Lys615=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 385040	NM_014251.3(SLC25A13):c.1842-12C>A	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency +1 more	GBenign/Likely benign
Select item 1054965	NM_014251.3(SLC25A13):c.1666_1842-31del	SLC25A13	Deletion (splice acceptor variant +1 more)	Citrin deficiency	GUncertain significance
Select item 3023474	NM_014251.3(SLC25A13):c.1841+19C>T	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2869155	NM_014251.3(SLC25A13):c.1841+18T>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 3016801	NM_014251.3(SLC25A13):c.1841+17A>G	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2961683	NM_014251.3(SLC25A13):c.1841+13C>A	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2858331	NM_014251.3(SLC25A13):c.1841+12G>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 668498	NM_014251.3(SLC25A13):c.1841+11T>C	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency +1 more	GLikely benign
Select item 1146531	NM_014251.3(SLC25A13):c.1841+9C>T	SLC25A13	Single nucleotide variant (intron variant)	Citrin deficiency	GLikely benign
Select item 2418949	NM_014251.3(SLC25A13):c.1841+3_1841+4del	SLC25A13	Deletion (intron variant)	Citrin deficiency	GLikely pathogenic
Select item 2678815	NM_014251.3(SLC25A13):c.1841+1G>T	SLC25A13	Single nucleotide variant (splice donor variant)	Citrullinemia, type II, adult-onset	GLikely pathogenic
Select item 1022684	NM_014251.3(SLC25A13):c.1833del (p.Phe611fs)	SLC25A13 (F611fs +1 more)	Deletion (frameshift variant +1 more)	Citrin deficiency	GUncertain significance
Select item 2678829	NM_014251.3(SLC25A13):c.1824dup (p.Ile609fs)	SLC25A13 (I609fs +1 more)	Duplication (frameshift variant +1 more)	Citrullinemia, type II, adult-onset	GLikely pathogenic
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 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 1364672	NM_014251.3(SLC25A13):c.1818G>T (p.Trp606Cys)	SLC25A13 (W606C +1 more)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency	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 +3 more	GUncertain significance
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 2052392	NM_014251.3(SLC25A13):c.1812G>A (p.Gln604=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 1102463	NM_014251.3(SLC25A13):c.1809A>G (p.Leu603=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 1110767	NM_014251.3(SLC25A13):c.1806G>A (p.Leu602=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 21513	NM_014251.3(SLC25A13):c.1801G>T (p.Glu601Ter)	SLC25A13 (E601* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrullinemia, type II, adult-onset +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	GLikely pathogenic
Select item 2678822	NM_014251.3(SLC25A13):c.1800C>A (p.Tyr600Ter)	SLC25A13 (Y600* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrullinemia, type II, adult-onset	GPathogenic
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 6006	NM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter)	SLC25A13 (Y600* +1 more)	Duplication (nonsense +1 more)	Neonatal intrahepatic cholestasis due to citrin deficiency +2 more	GPathogenic
Select item 2964307	NM_014251.3(SLC25A13):c.1797T>G (p.Thr599=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely 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 2466873	NM_014251.3(SLC25A13):c.1792C>A (p.Leu598Met)	SLC25A13 (L599M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2118335	NM_014251.3(SLC25A13):c.1789T>C (p.Leu597=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 2877621	NM_014251.3(SLC25A13):c.1788T>C (p.Thr596=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
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 1084459	NM_014251.3(SLC25A13):c.1770A>T (p.Ser590=)	SLC25A13	Single nucleotide variant (synonymous variant +1 more)	Citrin deficiency	GLikely benign
Select item 1929400	NM_014251.3(SLC25A13):c.1769C>A (p.Ser590Ter)	SLC25A13 (S590* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrin deficiency +1 more	GPathogenic/Likely pathogenic
Select item 3233849	NM_014251.3(SLC25A13):c.1763G>T (p.Arg588Leu)	SLC25A13 (R588L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	Neonatal intrahepatic cholestasis due to citrin deficiency +3 more	GConflicting classifications of pathogenicity
Select item 664925	NM_014251.3(SLC25A13):c.1762C>T (p.Arg588Ter)	SLC25A13 (R589* +1 more)	Single nucleotide variant (nonsense +1 more)	Citrin deficiency +1 more	GPathogenic/Likely pathogenic
Select item 501137	NM_014251.3(SLC25A13):c.1754G>A (p.Arg585His)	SLC25A13 (R585H +1 more)	Single nucleotide variant (missense variant +1 more)	Citrin deficiency +1 more	GUncertain significance
Select item 760633	NM_014251.3(SLC25A13):c.1751-4_1751-3insT	SLC25A13	Insertion (intron variant)	Citrin deficiency +1 more	GLikely benign
Select item 1695400	NM_014251.3(SLC25A13):c.1751-5_1751-4insGATTTCTCCA	SLC25A13	Insertion (intron variant)	Neonatal intrahepatic cholestasis due to citrin deficiency	GPathogenic

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