Slc25a13 Variant Search Result - Rat Genome Database

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892 records found for search term Slc25a13

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11589483	CV303693	single nucleotide variant	NM_014251.3(SLC25A13):c.*72G>A	Citrullinemia type I [RCV000311156]\|Citrullinemia type II [RCV000368245]	uncertain significance	7	96121119	96121119	Human	2	name
11649889	CV312069	single nucleotide variant	NM_014251.3(SLC25A13):c.-10G>A	Citrullinemia type I [RCV000328714]\|Citrullinemia type II [RCV000290050]	uncertain significance	7	96321966	96321966	Human	2	name
14739915	CV655821	single nucleotide variant	NM_014251.3(SLC25A13):c.-23G>A	not provided [RCV000840110]	likely benign	7	96321979	96321979	Human		name
28910758	CV898561	single nucleotide variant	NM_014251.3(SLC25A13):c.*93G>A	Citrullinemia type II [RCV001161680]	uncertain significance	7	96121098	96121098	Human	1	name
28910760	CV898562	single nucleotide variant	NM_014251.3(SLC25A13):c.*40C>T	Citrullinemia type II [RCV001161681]	uncertain significance	7	96121151	96121151	Human	1	name
28874554	CV898569	single nucleotide variant	NM_014251.3(SLC25A13):c.-99C>A	Citrullinemia type II [RCV001165411]	uncertain significance	7	96322055	96322055	Human	1	name
41405209	CV981614	variation	NM_014251.3(SLC25A13):c.328+6=	not provided [RCV001812464]	benign	7	96234796	96234796	Human		name
151811498	CV1359463	single nucleotide variant	NM_014251.3(SLC25A13):c.15+1G>A	Citrin deficiency [RCV001991872]\|Citrullinemia, type II, adult-onset [RCV004571933]	likely pathogenic	7	96321941	96321941	Human	2	name
151809293	CV1362904	single nucleotide variant	NM_014251.3(SLC25A13):c.70-1G>T	Citrin deficiency [RCV001991665]	likely pathogenic	7	96277339	96277339	Human	1	name
151824660	CV1429390	single nucleotide variant	NM_014251.3(SLC25A13):c.16-2A>G	Citrin deficiency [RCV001993119]	pathogenic	7	96296953	96296953	Human	1	name
152047697	CV1569514	deletion	NM_014251.3(SLC25A13):c.70-7del	Citrin deficiency [RCV002126841]	benign	7	96277345	96277345	Human	1	name
156048964	CV1868903	single nucleotide variant	NM_014251.3(SLC25A13):c.70-7T>A	Citrin deficiency [RCV003052930]	likely benign	7	96277345	96277345	Human	1	name
156213675	CV1869134	single nucleotide variant	NM_014251.3(SLC25A13):c.70-7T>C	Citrin deficiency [RCV003058630]	likely benign	7	96277345	96277345	Human	1	name
156379148	CV2028963	single nucleotide variant	NM_014251.3(SLC25A13):c.69+5G>C	Citrin deficiency [RCV002722174]	uncertain significance	7	96296893	96296893	Human	1	name
156248110	CV2101786	single nucleotide variant	NM_014251.3(SLC25A13):c.15+2T>C	Citrin deficiency [RCV002895164]	likely pathogenic	7	96321940	96321940	Human	1	name
156003423	CV2119141	single nucleotide variant	NM_014251.3(SLC25A13):c.16-8A>G	Citrin deficiency [RCV002975292]	likely benign	7	96296959	96296959	Human	1	name
401949032	CV2838563	single nucleotide variant	NM_014251.3(SLC25A13):c.70-2A>T	Citrullinemia, type II, adult-onset [RCV003472821]	likely pathogenic	7	96277340	96277340	Human	1	name
405073781	CV2886643	single nucleotide variant	NM_014251.3(SLC25A13):c.15+7G>A	Citrin deficiency [RCV003581305]	likely benign	7	96321935	96321935	Human	1	name
405076480	CV2893893	duplication	NM_014251.3(SLC25A13):c.70-4dup	Citrin deficiency [RCV003581340]	likely benign	7	96277341	96277342	Human	1	name
405071066	CV3020244	single nucleotide variant	NM_014251.3(SLC25A13):c.69+7A>G	Citrin deficiency [RCV003742374]	likely benign	7	96296891	96296891	Human	1	name
11584663	CV303680	single nucleotide variant	NM_014251.3(SLC25A13):c.*729G>A	Citrullinemia type I [RCV000385869]\|Citrullinemia type II [RCV000275604]	uncertain significance	7	96120462	96120462	Human	2	name
11649607	CV303681	single nucleotide variant	NM_014251.3(SLC25A13):c.*517A>G	Citrullinemia type I [RCV000288528]\|Citrullinemia type II [RCV000345665]	uncertain significance	7	96120674	96120674	Human	2	name
11587970	CV303690	single nucleotide variant	NM_014251.3(SLC25A13):c.*310C>T	Citrullinemia type I [RCV000337812]\|Citrullinemia type II [RCV000299272]	uncertain significance	7	96120881	96120881	Human	2	name
11586314	CV303706	single nucleotide variant	NM_014251.3(SLC25A13):c.-115G>T	Citrullinemia type I [RCV000286955]\|Citrullinemia type II [RCV000341828]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV002502389]	uncertain significance	7	96322071	96322071	Human	4	name
11651145	CV303715	single nucleotide variant	NM_014251.3(SLC25A13):c.-127G>A	Citrullinemia type I [RCV000297330]\|Citrullinemia type II [RCV000406107]	uncertain significance	7	96322083	96322083	Human	2	name
11605144	CV307111	single nucleotide variant	NM_014251.3(SLC25A13):c.*909C>G	Citrullinemia type I [RCV000355060]\|Citrullinemia type II [RCV000316594]	uncertain significance	7	96120282	96120282	Human	2	name
11606158	CV307112	single nucleotide variant	NM_014251.3(SLC25A13):c.*570G>A	Citrullinemia type I [RCV000328397]\|Citrullinemia type II [RCV000385134]	likely benign\|uncertain significance	7	96120621	96120621	Human	2	name
11657356	CV307124	single nucleotide variant	NM_014251.3(SLC25A13):c.-107G>A	Citrullinemia type I [RCV000340805]\|Citrullinemia type II [RCV000391674]	uncertain significance	7	96322063	96322063	Human	2	name
11608539	CV307127	single nucleotide variant	NM_014251.2(SLC25A13):c.-160C>T	Citrullinemia type I [RCV000356811]\|Citrullinemia type II [RCV000404104]	uncertain significance	7	96322116	96322116	Human	2	name
11657235	CV312042	single nucleotide variant	NM_014251.3(SLC25A13):c.*330G>T	Citrullinemia type I [RCV000402837]\|Citrullinemia type II [RCV000339907]	uncertain significance	7	96120861	96120861	Human	2	name
11603235	CV312049	single nucleotide variant	NM_014251.3(SLC25A13):c.*191T>C	Citrullinemia type I [RCV000397951]\|Citrullinemia type II [RCV000298243]	uncertain significance	7	96121000	96121000	Human	2	name
11600767	CV312077	single nucleotide variant	NM_014251.3(SLC25A13):c.*792C>T	Citrullinemia type I [RCV000276344]\|Citrullinemia type II [RCV000333730]	likely benign\|uncertain significance	7	96120399	96120399	Human	2	name
11649391	CV312078	single nucleotide variant	NM_014251.3(SLC25A13):c.*507T>C	Citrullinemia type I [RCV000379208]\|Citrullinemia type II [RCV000287220]	uncertain significance	7	96120684	96120684	Human	2	name
11600849	CV312080	single nucleotide variant	NM_014251.3(SLC25A13):c.*175A>G	Citrullinemia type I [RCV000369377]\|Citrullinemia type II [RCV000277141]\|not provided [RCV001683432]	benign\|likely benign	7	96121016	96121016	Human	2	name
405246222	CV3162260	single nucleotide variant	NM_014251.3(SLC25A13):c.15+8C>T	Citrin deficiency [RCV003868779]	likely benign	7	96321934	96321934	Human	1	name
12834265	CV369326	single nucleotide variant	NM_014251.3(SLC25A13):c.15+9G>A	Citrin deficiency [RCV002522604]\|SLC25A13-related disorder [RCV003899891]\|not specified [RCV000420067]	likely benign	7	96321933	96321933	Human	2	name , trait , alternate_id
597723648	CV3729087	single nucleotide variant	NM_014251.3(SLC25A13):c.15+2T>G	Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005035951]	likely pathogenic	7	96321940	96321940	Human	2	name
13833344	CV584576	single nucleotide variant	NM_014251.3(SLC25A13):c.70-1G>A	Citrin deficiency [RCV001221001]\|Citrullinemia [RCV001830599]\|Citrullinemia, type II, adult-onset [RCV003465657]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005036048]\|not provided [RCV000728573]	pathogenic\|likely pathogenic	7	96277339	96277339	Human	4	name
28874051	CV898557	single nucleotide variant	NM_014251.3(SLC25A13):c.*881T>G	Citrullinemia type II [RCV001165183]	uncertain significance	7	96120310	96120310	Human	1	name
28905501	CV898558	single nucleotide variant	NM_014251.3(SLC25A13):c.*750T>C	Citrullinemia type II [RCV001158471]	uncertain significance	7	96120441	96120441	Human	1	name
28905503	CV898559	single nucleotide variant	NM_014251.3(SLC25A13):c.*622C>T	Citrullinemia type II [RCV001158472]	uncertain significance	7	96120569	96120569	Human	1	name
28910757	CV898560	single nucleotide variant	NM_014251.3(SLC25A13):c.*280G>T	Citrullinemia type II [RCV001161679]	uncertain significance	7	96120911	96120911	Human	1	name
28869925	CV900422	single nucleotide variant	NM_014251.3(SLC25A13):c.16-4A>G	Citrin deficiency [RCV005056968]\|Citrullinemia type II [RCV001163310]	likely benign\|uncertain significance	7	96296955	96296955	Human	1	name
28874557	CV900423	single nucleotide variant	NM_014251.2(SLC25A13):c.-203C>A	Citrullinemia type II [RCV001165412]	uncertain significance	7	96322159	96322159	Human	1	name
28874560	CV900424	single nucleotide variant	NM_014251.2(SLC25A13):c.-205G>T	Citrullinemia type II [RCV001165413]	uncertain significance	7	96322161	96322161	Human	1	name
38493410	CV940886	single nucleotide variant	NM_014251.3(SLC25A13):c.15+5C>T	Citrin deficiency [RCV001224220]\|not specified [RCV004699213]	uncertain significance	7	96321937	96321937	Human	1	name
127241128	CV972521	single nucleotide variant	NM_014251.3(SLC25A13):c.69+5G>A	Neonatal intrahepatic cholestasis due to citrin deficiency [RCV001376647]	pathogenic	7	96296893	96296893	Human	1	name
127249148	CV1055697	single nucleotide variant	NM_014251.3(SLC25A13):c.934-2A>T	Citrin deficiency [RCV001378096]	likely pathogenic	7	96185013	96185013	Human	1	name
127258263	CV1096589	single nucleotide variant	NM_014251.3(SLC25A13):c.849-9C>G	Citrin deficiency [RCV001427280]	likely benign	7	96189387	96189387	Human	1	name
127283418	CV1096591	single nucleotide variant	NM_014251.3(SLC25A13):c.755-5T>C	Citrin deficiency [RCV001448523]	likely benign	7	96189679	96189679	Human	1	name
127328214	CV1118118	single nucleotide variant	NM_014251.3(SLC25A13):c.848+8G>A	Citrin deficiency [RCV001469476]	likely benign	7	96189573	96189573	Human	1	name
127332506	CV1118121	single nucleotide variant	NM_014251.3(SLC25A13):c.615+8G>T	Citrin deficiency [RCV001472251]	likely benign	7	96193029	96193029	Human	1	name
127318801	CV1118122	single nucleotide variant	NM_014251.3(SLC25A13):c.615+8G>A	Citrin deficiency [RCV001466364]	likely benign	7	96193029	96193029	Human	1	name
127293999	CV1118126	single nucleotide variant	NM_014251.3(SLC25A13):c.213-7G>T	Citrin deficiency [RCV001476702]	likely benign	7	96234924	96234924	Human	1	name
127294216	CV1139050	single nucleotide variant	NM_014251.3(SLC25A13):c.755-6A>G	Citrin deficiency [RCV001496931]	likely benign	7	96189680	96189680	Human	1	name
127319246	CV1139055	single nucleotide variant	NM_014251.3(SLC25A13):c.328+8G>A	Citrin deficiency [RCV001503964]	likely benign	7	96234794	96234794	Human	1	name
127301721	CV1155805	duplication	NM_014251.3(SLC25A13):c.70-14dup	Citrin deficiency [RCV001514808]	benign	7	96277344	96277345	Human	1	name
150337496	CV1171788	single nucleotide variant	NM_014251.3(SLC25A13):c.69+36A>G	not provided [RCV001541689]	likely benign	7	96296862	96296862	Human		name
150407256	CV1199968	single nucleotide variant	NM_014251.3(SLC25A13):c.848+8G>T	not provided [RCV001579715]\|not specified [RCV001702927]	benign\|likely benign	7	96189573	96189573	Human		name
150476404	CV1251855	single nucleotide variant	NM_014251.3(SLC25A13):c.69+45C>G	not provided [RCV001672054]	benign	7	96296853	96296853	Human		name
151738070	CV1379109	single nucleotide variant	NM_014251.3(SLC25A13):c.848+1G>A	Citrin deficiency [RCV001911648]	pathogenic	7	96189580	96189580	Human	1	name
151888161	CV1516906	single nucleotide variant	NM_014251.3(SLC25A13):c.934-3C>T	Citrin deficiency [RCV002038342]	uncertain significance	7	96185014	96185014	Human	1	name
152040631	CV1577626	duplication	NM_014251.3(SLC25A13):c.329-4dup	Citrin deficiency [RCV002107687]	benign	7	96208980	96208981	Human	1	name
152039636	CV1617242	single nucleotide variant	NM_014251.3(SLC25A13):c.848+9G>A	Citrin deficiency [RCV002087763]	likely benign	7	96189572	96189572	Human	1	name
152133177	CV1621590	single nucleotide variant	NM_014251.3(SLC25A13):c.468+8T>A	Citrin deficiency [RCV002218356]	likely benign	7	96208830	96208830	Human	1	name
152079720	CV1632492	single nucleotide variant	NM_014251.3(SLC25A13):c.849-8C>T	Citrin deficiency [RCV002130675]	likely benign	7	96189386	96189386	Human	1	name
156374677	CV1871756	single nucleotide variant	NM_014251.3(SLC25A13):c.213-4G>C	Citrin deficiency [RCV003066606]	likely benign	7	96234921	96234921	Human	1	name
156173085	CV2053454	single nucleotide variant	NM_014251.3(SLC25A13):c.213-2A>G	Citrin deficiency [RCV002802010]	likely pathogenic	7	96234919	96234919	Human	1	name
155988427	CV2070530	single nucleotide variant	NM_014251.3(SLC25A13):c.468+7C>T	Citrin deficiency [RCV002842851]	likely benign	7	96208831	96208831	Human	1	name
156235577	CV2094036	single nucleotide variant	NM_014251.3(SLC25A13):c.213-2A>C	Citrin deficiency [RCV002894722]	likely pathogenic	7	96234919	96234919	Human	1	name
156215351	CV2110910	single nucleotide variant	NM_014251.3(SLC25A13):c.329-1G>A	Citrin deficiency [RCV002932236]	likely pathogenic	7	96208978	96208978	Human	1	name
156248204	CV2174417	single nucleotide variant	NM_014251.3(SLC25A13):c.469-2A>G	Citrin deficiency [RCV003043693]	likely pathogenic	7	96193185	96193185	Human	1	name
11542771	CV252989	single nucleotide variant	NM_014251.3(SLC25A13):c.328+6A>G	Citrin deficiency [RCV001514353]\|Citrullinemia [RCV001828145]\|Citrullinemia type I [RCV000369119]\|Citrullinemia type II [RCV000277047]\|Citrullinemia, type II, adult-onset [RCV001532822]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV001532823]\|not provided [RCV001358100]\|not specifie ... (more) d [RCV000241583]	benign\|uncertain significance	7	96234796	96234796	Human	5	name
401949020	CV2838551	single nucleotide variant	NM_014251.3(SLC25A13):c.213-1G>C	Citrullinemia, type II, adult-onset [RCV003472809]	likely pathogenic	7	96234918	96234918	Human	1	name
401949022	CV2838553	deletion	NM_014251.3(SLC25A13):c.848+1del	Citrin deficiency [RCV003741357]\|Citrullinemia, type II, adult-onset [RCV003472811]	pathogenic\|likely pathogenic	7	96189580	96189580	Human	2	name
405077125	CV2895235	single nucleotide variant	NM_014251.3(SLC25A13):c.15+15G>C	Citrin deficiency [RCV003581487]	likely benign	7	96321927	96321927	Human	1	name
405075837	CV2904966	single nucleotide variant	NM_014251.3(SLC25A13):c.755-1G>C	Citrin deficiency [RCV003581441]	likely pathogenic	7	96189675	96189675	Human	1	name
405075849	CV2904967	single nucleotide variant	NM_014251.3(SLC25A13):c.615+1G>A	Citrin deficiency [RCV003581442]\|Citrullinemia, type II, adult-onset [RCV004574098]	pathogenic	7	96193036	96193036	Human	2	name
405062564	CV2968541	single nucleotide variant	NM_014251.3(SLC25A13):c.849-6C>T	Citrin deficiency [RCV003741700]	likely benign	7	96189384	96189384	Human	1	name
405062819	CV2975743	single nucleotide variant	NM_014251.3(SLC25A13):c.329-2A>G	Citrin deficiency [RCV003741720]	likely pathogenic	7	96208979	96208979	Human	1	name
405063663	CV2977364	single nucleotide variant	NM_014251.3(SLC25A13):c.70-13T>G	Citrin deficiency [RCV003741796]	likely benign	7	96277351	96277351	Human	1	name
405067818	CV3005100	single nucleotide variant	NM_014251.3(SLC25A13):c.16-12G>T	Citrin deficiency [RCV003742121]	likely benign	7	96296963	96296963	Human	1	name
405070072	CV3022240	single nucleotide variant	NM_014251.3(SLC25A13):c.755-7C>G	Citrin deficiency [RCV003742302]	likely benign	7	96189681	96189681	Human	1	name
405051803	CV3045016	single nucleotide variant	NM_014251.3(SLC25A13):c.69+12G>A	Citrin deficiency [RCV003740677]	likely benign	7	96296886	96296886	Human	1	name
405051848	CV3045300	single nucleotide variant	NM_014251.3(SLC25A13):c.70-18T>C	Citrin deficiency [RCV003740681]	likely benign	7	96277356	96277356	Human	1	name
405052174	CV3048958	single nucleotide variant	NM_014251.3(SLC25A13):c.16-10T>C	Citrin deficiency [RCV003740708]	likely benign	7	96296961	96296961	Human	1	name
405056046	CV3080013	single nucleotide variant	NM_014251.3(SLC25A13):c.754+8A>C	Citrin deficiency [RCV003741056]	likely benign	7	96191101	96191101	Human	1	name
405057413	CV3080677	single nucleotide variant	NM_014251.3(SLC25A13):c.70-17T>A	Citrin deficiency [RCV003741118]	likely benign	7	96277355	96277355	Human	1	name
405215565	CV3124595	single nucleotide variant	NM_014251.3(SLC25A13):c.69+15A>G	Citrin deficiency [RCV003823957]	likely benign	7	96296883	96296883	Human	1	name
404990075	CV3131964	single nucleotide variant	NM_014251.3(SLC25A13):c.934-7A>G	Citrin deficiency [RCV003827093]	likely benign	7	96185018	96185018	Human	1	name
405223222	CV3158218	single nucleotide variant	NM_014251.3(SLC25A13):c.16-12G>A	Citrin deficiency [RCV003863714]	likely benign	7	96296963	96296963	Human	1	name
404993003	CV3176402	single nucleotide variant	NM_014251.3(SLC25A13):c.328+7A>G	Citrin deficiency [RCV003881834]	likely benign	7	96234795	96234795	Human	1	name
405269284	CV3201509	single nucleotide variant	NM_014251.3(SLC25A13):c.755-8C>A	SLC25A13-related disorder [RCV003899425]	likely benign	7	96189682	96189682	Human		name , trait , alternate_id
405869744	CV3399465	single nucleotide variant	NM_014251.3(SLC25A13):c.755-2A>G	Citrullinemia, type II, adult-onset [RCV004573610]	pathogenic	7	96189676	96189676	Human	1	name
8566965	CV34368	single nucleotide variant	NM_014251.3(SLC25A13):c.615+1G>C	Neonatal intrahepatic cholestasis due to citrin deficiency [RCV000020706]	pathogenic\|not provided	7	96193036	96193036	Human	1	name
8566966	CV34369	single nucleotide variant	NM_014251.3(SLC25A13):c.615+5G>A	Citrin deficiency [RCV000811639]\|Citrullinemia type II [RCV000779548]\|Citrullinemia, type II, adult-onset [RCV002259308]\|Late-onset citrullinemia [RCV001272104]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV000020707]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV00 ... (more) 4795933]\|SLC25A13-related disorder [RCV003924850]\|not provided [RCV000733522]	pathogenic\|likely pathogenic\|not provided	7	96193032	96193032	Human	3	name , trait , alternate_id
408376224	CV3505682	single nucleotide variant	NM_014251.3(SLC25A13):c.849-6C>G	SLC25A13-related disorder [RCV004726641]	uncertain significance	7	96189384	96189384	Human		name , trait , alternate_id
12835443	CV369322	single nucleotide variant	NM_014251.3(SLC25A13):c.849-4A>G	Citrin deficiency [RCV000873269]\|SLC25A13-related disorder [RCV003902574]\|not specified [RCV000421670]	likely benign	7	96189382	96189382	Human	2	name , trait , alternate_id
12839966	CV370035	single nucleotide variant	NM_014251.3(SLC25A13):c.848+9G>T	Citrin deficiency [RCV001083522]\|SLC25A13-related disorder [RCV003970168]\|not provided [RCV000732623]\|not specified [RCV000429795]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	96189572	96189572	Human	2	name , trait , alternate_id
598204044	CV3896580	deletion	NM_014251.3(SLC25A13):c.616-2del	Citrin deficiency [RCV005356798]	likely pathogenic	7	96191249	96191249	Human	1	name
12892759	CV404776	single nucleotide variant	NM_014251.3(SLC25A13):c.468+1G>C	Citrullinemia type II [RCV000477873]\|Citrullinemia, type II, adult-onset [RCV004568140]	likely pathogenic	7	96208837	96208837	Human	2	name
13211986	CV425773	single nucleotide variant	NM_014251.3(SLC25A13):c.468+5G>A	not provided [RCV000498186]	likely pathogenic	7	96208833	96208833	Human		name
21071643	CV790765	single nucleotide variant	NM_014251.3(SLC25A13):c.848+1G>T	Citrin deficiency [RCV001044508]\|Citrullinemia type I [RCV000987930]\|Citrullinemia, type II, adult-onset [RCV003473532]\|SLC25A13-related disorder [RCV003936241]	pathogenic\|likely pathogenic	7	96189580	96189580	Human	4	name , trait , alternate_id
26913853	CV852395	single nucleotide variant	NM_014251.3(SLC25A13):c.848+3A>C	Citrin deficiency [RCV001054533]\|Citrullinemia, type II, adult-onset [RCV003333128]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV003333127]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005047255]\|not specified [RCV003987768]	pathogenic\|likely pathogenic\|uncertain significance	7	96189578	96189578	Human	3	name
26915192	CV852404	single nucleotide variant	NM_014251.3(SLC25A13):c.328+1G>T	Citrin deficiency [RCV001041184]	likely pathogenic	7	96234801	96234801	Human	1	name
127258122	CV1055695	single nucleotide variant	NM_014251.3(SLC25A13):c.1750+1G>C	Citrin deficiency [RCV001379885]\|Citrullinemia, type II, adult-onset [RCV003473920]	likely pathogenic	7	96121838	96121838	Human	2	name
127255545	CV1055696	single nucleotide variant	NM_014251.3(SLC25A13):c.1231-1G>A	Citrin deficiency [RCV001379390]\|Citrullinemia, type II, adult-onset [RCV003473918]	pathogenic\|likely pathogenic	7	96170126	96170126	Human	2	name
127254478	CV1074934	single nucleotide variant	NM_014251.3(SLC25A13):c.1592-4G>A	Citrin deficiency [RCV001400813]	likely benign	7	96122001	96122001	Human	1	name
127274608	CV1096588	single nucleotide variant	NM_014251.3(SLC25A13):c.1018+8A>G	Citrin deficiency [RCV001442916]	likely benign	7	96184919	96184919	Human	1	name
127329753	CV1118109	single nucleotide variant	NM_014251.3(SLC25A13):c.1592-9C>T	Citrin deficiency [RCV001470408]	likely benign	7	96122006	96122006	Human	1	name
127333686	CV1118112	single nucleotide variant	NM_014251.3(SLC25A13):c.1591+9C>T	Citrin deficiency [RCV001473080]	likely benign	7	96131734	96131734	Human	1	name
127325502	CV1139039	single nucleotide variant	NM_014251.3(SLC25A13):c.1841+9C>T	Citrin deficiency [RCV001485820]	likely benign	7	96121646	96121646	Human	1	name
127332518	CV1139040	single nucleotide variant	NM_014251.3(SLC25A13):c.1750+8A>T	Citrin deficiency [RCV001489529]	likely benign	7	96121831	96121831	Human	1	name
127331625	CV1139041	single nucleotide variant	NM_014251.3(SLC25A13):c.1311+8C>G	Citrin deficiency [RCV001488950]	likely benign	7	96170037	96170037	Human	1	name
127322394	CV1139044	single nucleotide variant	NM_014251.3(SLC25A13):c.1177+8C>T	Citrin deficiency [RCV001484922]\|not provided [RCV003326578]	likely benign\|uncertain significance	7	96184269	96184269	Human	1	name
127306806	CV1139048	single nucleotide variant	NM_014251.3(SLC25A13):c.933+10G>T	Citrin deficiency [RCV001480181]	likely benign	7	96189284	96189284	Human	1	name
127308445	CV1155804	single nucleotide variant	NM_014251.3(SLC25A13):c.329-17G>C	Citrin deficiency [RCV001517515]	benign	7	96208994	96208994	Human	1	name
150410230	CV1176972	single nucleotide variant	NM_014251.3(SLC25A13):c.615+68A>G	not provided [RCV001546534]	likely benign	7	96192969	96192969	Human		name
150409924	CV1176973	single nucleotide variant	NM_014251.3(SLC25A13):c.70-171G>A	not provided [RCV001546418]	likely benign	7	96277509	96277509	Human		name
150408711	CV1176974	single nucleotide variant	NM_014251.3(SLC25A13):c.16-174G>T	not provided [RCV001546000]	likely benign	7	96297125	96297125	Human		name
150478998	CV1207763	single nucleotide variant	NM_014251.3(SLC25A13):c.15+240A>G	not provided [RCV001590039]	likely benign	7	96321702	96321702	Human		name
150430918	CV1231094	single nucleotide variant	NM_014251.3(SLC25A13):c.329-42T>G	not provided [RCV001641643]	benign	7	96209019	96209019	Human		name
150498384	CV1255570	single nucleotide variant	NM_014251.3(SLC25A13):c.16-282A>G	not provided [RCV001676358]	benign	7	96297233	96297233	Human		name
150548479	CV1316365	single nucleotide variant	NM_014251.3(SLC25A13):c.212+70A>G	not provided [RCV001786167]	likely benign	7	96277126	96277126	Human		name
151798204	CV1346792	single nucleotide variant	NM_014251.3(SLC25A13):c.1178-1G>T	Citrin deficiency [RCV001990703]\|Citrullinemia, type II, adult-onset [RCV003471206]	likely pathogenic	7	96171525	96171525	Human	2	name
151712611	CV1370924	single nucleotide variant	NM_014251.3(SLC25A13):c.1453-2A>T	Citrin deficiency [RCV001908312]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV002503498]	pathogenic	7	96131883	96131883	Human	3	name
151847740	CV1433268	single nucleotide variant	NM_014251.3(SLC25A13):c.1452+1G>A	Citrin deficiency [RCV001978515]	likely pathogenic	7	96146555	96146555	Human	1	name
151757544	CV1438738	single nucleotide variant	NM_014251.3(SLC25A13):c.328+10A>G	Citrin deficiency [RCV002007486]	likely benign	7	96234792	96234792	Human	1	name
152108704	CV1520086	single nucleotide variant	NM_014251.3(SLC25A13):c.848+15T>G	Citrin deficiency [RCV002134202]	likely benign	7	96189566	96189566	Human	1	name
152121569	CV1562523	duplication	NM_014251.3(SLC25A13):c.213-10dup	Citrin deficiency [RCV002098227]	benign	7	96234926	96234927	Human	1	name
152069498	CV1571017	single nucleotide variant	NM_014251.3(SLC25A13):c.1453-5T>C	Citrin deficiency [RCV002129419]	likely benign	7	96131886	96131886	Human	1	name
152110908	CV1582087	single nucleotide variant	NM_014251.3(SLC25A13):c.1311+9C>T	Citrin deficiency [RCV002080231]	likely benign	7	96170036	96170036	Human	1	name
152110266	CV1586136	single nucleotide variant	NM_014251.3(SLC25A13):c.1592-7C>T	Citrin deficiency [RCV002134389]	likely benign	7	96122004	96122004	Human	1	name
152027850	CV1607455	single nucleotide variant	NM_014251.3(SLC25A13):c.1177+7G>A	Citrin deficiency [RCV002105034]	likely benign	7	96184270	96184270	Human	1	name
152070682	CV1622896	single nucleotide variant	NM_014251.3(SLC25A13):c.1751-7T>C	Citrin deficiency [RCV002209935]	likely benign	7	96121752	96121752	Human	1	name
152169312	CV1637001	single nucleotide variant	NM_014251.3(SLC25A13):c.1592-6C>T	Citrin deficiency [RCV002182751]	likely benign	7	96122003	96122003	Human	1	name
156278190	CV1912001	single nucleotide variant	NM_014251.3(SLC25A13):c.615+13T>C	Citrin deficiency [RCV002628338]	likely benign	7	96193024	96193024	Human	1	name
156442357	CV1938582	single nucleotide variant	NM_014251.3(SLC25A13):c.1453-3C>T	Citrin deficiency [RCV003112698]	uncertain significance	7	96131884	96131884	Human	1	name
156438991	CV1943849	single nucleotide variant	NM_014251.3(SLC25A13):c.328+14T>G	Citrin deficiency [RCV003108943]	likely benign	7	96234788	96234788	Human	1	name
156294869	CV2009992	single nucleotide variant	NM_014251.3(SLC25A13):c.1591+4A>G	Citrin deficiency [RCV002715800]	uncertain significance	7	96131739	96131739	Human	1	name
156078070	CV2098473	single nucleotide variant	NM_014251.3(SLC25A13):c.1751-9T>G	Citrin deficiency [RCV002912608]	likely benign	7	96121754	96121754	Human	1	name
155921790	CV2102443	single nucleotide variant	NM_014251.3(SLC25A13):c.615+19T>C	Citrin deficiency [RCV002903388]	likely benign	7	96193018	96193018	Human	1	name
8559051	CV21041	single nucleotide variant	NM_014251.3(SLC25A13):c.1177+1G>A	CITRIN DEFICIENCY, NEONATAL ONSET [RCV005234780]\|Citrin deficiency [RCV000808307]\|Citrullinemia type II [RCV000006369]\|Citrullinemia, type II, adult-onset [RCV002259301]\|Late-onset citrullinemia [RCV001277073]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV000006370]\|Neonatal intrahe ... (more) patic cholestasis due to citrin deficiency [RCV005031396]\|SLC25A13-related disorder [RCV004742216]	pathogenic\|not provided	7	96184276	96184276	Human	3	name , trait , alternate_id
8559054	CV21044	single nucleotide variant	NM_014251.3(SLC25A13):c.1311+1G>A	Citrin deficiency [RCV000796573]\|Citrullinemia type II [RCV000006373]\|Citrullinemia, type II, adult-onset [RCV003472983]\|Late-onset citrullinemia [RCV001277071]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV004786241]\|not provided [RCV003488327]	pathogenic	7	96170044	96170044	Human	3	name
155910588	CV2141563	single nucleotide variant	NM_014251.3(SLC25A13):c.1311+1G>C	Citrin deficiency [RCV002968018]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005045128]	pathogenic	7	96170044	96170044	Human	3	name
155908136	CV2144590	single nucleotide variant	NM_014251.3(SLC25A13):c.468+10G>C	Citrin deficiency [RCV003012057]	likely benign	7	96208828	96208828	Human	1	name
243051143	CV2415723	single nucleotide variant	NM_014251.3(SLC25A13):c.1452+5C>G	Neonatal intrahepatic cholestasis due to citrin deficiency [RCV003148330]\|SLC25A13-related disorder [RCV003966279]	likely benign\|uncertain significance	7	96146551	96146551	Human	1	name , trait , alternate_id
11531201	CV247325	single nucleotide variant	NM_014251.3(SLC25A13):c.616-11A>G	Neonatal intrahepatic cholestasis due to citrin deficiency [RCV000239386]	uncertain significance	7	96191258	96191258	Human	1	name
401947891	CV2838533	single nucleotide variant	NM_014251.3(SLC25A13):c.1841+1G>T	Citrullinemia, type II, adult-onset [RCV003466387]	likely pathogenic	7	96121654	96121654	Human	1	name
401947645	CV2838535	single nucleotide variant	NM_014251.3(SLC25A13):c.1453-1G>C	Citrin deficiency [RCV005100226]\|Citrullinemia, type II, adult-onset [RCV003466389]	pathogenic\|likely pathogenic	7	96131882	96131882	Human	2	name
401947657	CV2838541	single nucleotide variant	NM_014251.3(SLC25A13):c.1591+1G>A	Citrullinemia, type II, adult-onset [RCV003466395]	likely pathogenic	7	96131742	96131742	Human	1	name
401947663	CV2838544	single nucleotide variant	NM_014251.3(SLC25A13):c.1750+1G>T	Citrullinemia, type II, adult-onset [RCV003466398]	likely pathogenic	7	96121838	96121838	Human	1	name
401949025	CV2838556	duplication	NM_014251.3(SLC25A13):c.1311+2dup	Citrullinemia, type II, adult-onset [RCV003472814]	likely pathogenic	7	96170042	96170043	Human	1	name
405082461	CV2858469	single nucleotide variant	NM_014251.3(SLC25A13):c.754+10A>C	Citrin deficiency [RCV003582204]	likely benign	7	96191099	96191099	Human	1	name
405082668	CV2861819	single nucleotide variant	NM_014251.3(SLC25A13):c.1592-9C>G	Citrin deficiency [RCV003582223]	likely benign	7	96122006	96122006	Human	1	name
405082955	CV2862299	single nucleotide variant	NM_014251.3(SLC25A13):c.1311+8C>T	Citrin deficiency [RCV003582246]	likely benign	7	96170037	96170037	Human	1	name
405085676	CV2878504	single nucleotide variant	NM_014251.3(SLC25A13):c.1751-9T>C	Citrin deficiency [RCV003582437]	likely benign	7	96121754	96121754	Human	1	name
405072554	CV2882440	single nucleotide variant	NM_014251.3(SLC25A13):c.848+15T>C	Citrin deficiency [RCV003581221]	likely benign	7	96189566	96189566	Human	1	name
405074870	CV2884033	single nucleotide variant	NM_014251.3(SLC25A13):c.1230+7C>G	Citrin deficiency [RCV003581380]	likely benign	7	96171465	96171465	Human	1	name
405072092	CV2892249	single nucleotide variant	NM_014251.3(SLC25A13):c.469-14T>A	Citrin deficiency [RCV003581188]	likely benign	7	96193197	96193197	Human	1	name
405089472	CV2900094	single nucleotide variant	NM_014251.3(SLC25A13):c.213-20A>G	Citrin deficiency [RCV003582676]	likely benign	7	96234937	96234937	Human	1	name
405090193	CV2912673	single nucleotide variant	NM_014251.3(SLC25A13):c.1453-4G>T	Citrin deficiency [RCV003582816]	likely benign	7	96131885	96131885	Human	1	name
405092356	CV2920774	single nucleotide variant	NM_014251.3(SLC25A13):c.934-11A>C	Citrin deficiency [RCV003582961]	likely benign	7	96185022	96185022	Human	1	name
405094011	CV2922421	single nucleotide variant	NM_014251.3(SLC25A13):c.933+12G>A	Citrin deficiency [RCV003583102]	likely benign	7	96189282	96189282	Human	1	name
405094051	CV2922510	deletion	NM_014251.3(SLC25A13):c.212+14del	Citrin deficiency [RCV003583106]	benign	7	96277182	96277182	Human	1	name
405081241	CV2927816	single nucleotide variant	NM_014251.3(SLC25A13):c.755-10T>C	Citrin deficiency [RCV003582060]	likely benign	7	96189684	96189684	Human	1	name
405080524	CV2929528	single nucleotide variant	NM_014251.3(SLC25A13):c.615+15G>T	Citrin deficiency [RCV003581995]	likely benign	7	96193022	96193022	Human	1	name
405060495	CV2954941	single nucleotide variant	NM_014251.3(SLC25A13):c.616-15T>C	Citrin deficiency [RCV003741538]	likely benign	7	96191262	96191262	Human	1	name
405061346	CV2956418	single nucleotide variant	NM_014251.3(SLC25A13):c.469-12C>A	Citrin deficiency [RCV003741593]	likely benign	7	96193195	96193195	Human	1	name
405061264	CV2959709	single nucleotide variant	NM_014251.3(SLC25A13):c.468+11C>T	Citrin deficiency [RCV003741584]	likely benign	7	96208827	96208827	Human	1	name
405060390	CV2961476	single nucleotide variant	NM_014251.3(SLC25A13):c.1453-2A>G	Citrin deficiency [RCV003741529]	pathogenic	7	96131883	96131883	Human	1	name
405064478	CV2982188	single nucleotide variant	NM_014251.3(SLC25A13):c.1591+9C>G	Citrin deficiency [RCV003741864]	likely benign	7	96131734	96131734	Human	1	name
405067320	CV3004344	single nucleotide variant	NM_014251.3(SLC25A13):c.212+13T>G	Citrin deficiency [RCV003742083]	likely benign	7	96277183	96277183	Human	1	name
405068900	CV3007127	single nucleotide variant	NM_014251.3(SLC25A13):c.1592-4G>T	Citrin deficiency [RCV003742222]	likely benign	7	96122001	96122001	Human	1	name
405068622	CV3010141	single nucleotide variant	NM_014251.3(SLC25A13):c.469-17A>T	Citrin deficiency [RCV003742203]	likely benign	7	96193200	96193200	Human	1	name
405070134	CV3022513	single nucleotide variant	NM_014251.3(SLC25A13):c.213-19T>C	Citrin deficiency [RCV003742306]	likely benign	7	96234936	96234936	Human	1	name
405070896	CV3026804	single nucleotide variant	NM_014251.3(SLC25A13):c.328+14T>C	Citrin deficiency [RCV003742361]	likely benign	7	96234788	96234788	Human	1	name
405071011	CV3028459	single nucleotide variant	NM_014251.3(SLC25A13):c.848+10C>G	Citrin deficiency [RCV003742275]	likely benign	7	96189571	96189571	Human	1	name
11648035	CV303697	single nucleotide variant	NM_014251.3(SLC25A13):c.1177+5G>A	Citrullinemia type I [RCV000279939]\|Citrullinemia type II [RCV000332632]	uncertain significance	7	96184272	96184272	Human	2	name
11586797	CV303705	microsatellite	NM_014251.3(SLC25A13):c.-97CCG[6]	Citrin deficiency [RCV000290533]\|Citrullinemia type I [RCV000381021]\|not provided [RCV004696042]	uncertain significance	7	96322038	96322039	Human		name
405072706	CV3039472	single nucleotide variant	NM_014251.3(SLC25A13):c.754+16T>G	Citrin deficiency [RCV003742486]	likely benign	7	96191093	96191093	Human	1	name
405051796	CV3044978	single nucleotide variant	NM_014251.3(SLC25A13):c.754+17C>T	Citrin deficiency [RCV003740676]	likely benign	7	96191092	96191092	Human	1	name
405073076	CV3049659	single nucleotide variant	NM_014251.3(SLC25A13):c.848+12T>C	Citrin deficiency [RCV003742513]	likely benign	7	96189569	96189569	Human	1	name
405054210	CV3060232	single nucleotide variant	NM_014251.3(SLC25A13):c.469-17A>C	Citrin deficiency [RCV003740771]	likely benign	7	96193200	96193200	Human	1	name
405053642	CV3060338	single nucleotide variant	NM_014251.3(SLC25A13):c.1018+9T>C	Citrin deficiency [RCV003740776]	likely benign	7	96184918	96184918	Human	1	name
405053126	CV3061088	single nucleotide variant	NM_014251.3(SLC25A13):c.329-20C>G	Citrin deficiency [RCV003740810]	likely benign	7	96208997	96208997	Human	1	name
11599793	CV307119	single nucleotide variant	NM_014251.3(SLC25A13):c.1311+3A>G	Citrin deficiency [RCV000365675]\|Citrullinemia type I [RCV000268655]\|Citrullinemia type II [RCV001095293]\|SLC25A13-related disorder [RCV003950281]\|not provided [RCV000594038]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	96170042	96170042	Human	3	name , trait , alternate_id
405054334	CV3075511	single nucleotide variant	NM_014251.3(SLC25A13):c.1230+1G>A	Citrin deficiency [RCV003740920]	pathogenic	7	96171471	96171471	Human	1	name
405055753	CV3076746	single nucleotide variant	NM_014251.3(SLC25A13):c.848+13T>C	Citrin deficiency [RCV003741034]	likely benign	7	96189568	96189568	Human	1	name
405056596	CV3077506	single nucleotide variant	NM_014251.3(SLC25A13):c.754+13A>T	Citrin deficiency [RCV003741099]	likely benign	7	96191096	96191096	Human	1	name
405056608	CV3077532	deletion	NM_014251.3(SLC25A13):c.469-13del	Citrin deficiency [RCV003741100]	likely benign	7	96193196	96193196	Human	1	name
405056936	CV3077890	single nucleotide variant	NM_014251.3(SLC25A13):c.469-17A>G	Citrin deficiency [RCV003741125]	likely benign	7	96193200	96193200	Human	1	name
405055064	CV3079103	single nucleotide variant	NM_014251.3(SLC25A13):c.328+18G>A	Citrin deficiency [RCV003740981]	likely benign	7	96234784	96234784	Human	1	name
405055574	CV3079614	single nucleotide variant	NM_014251.3(SLC25A13):c.329-11T>C	Citrin deficiency [RCV003741020]	likely benign	7	96208988	96208988	Human	1	name
405056911	CV3080946	single nucleotide variant	NM_014251.3(SLC25A13):c.329-13T>C	Citrin deficiency [RCV003741123]	likely benign	7	96208990	96208990	Human	1	name
405111688	CV3118489	single nucleotide variant	NM_014251.3(SLC25A13):c.1453-7T>C	Citrin deficiency [RCV003813717]	likely benign	7	96131888	96131888	Human	1	name
11652431	CV312131	deletion	NM_014251.3(SLC25A13):c.848+10del	Citrin deficiency [RCV000304793]\|Citrullinemia type I [RCV000405580]	uncertain significance	7	96189571	96189571	Human	2	name
405028514	CV3129740	single nucleotide variant	NM_014251.3(SLC25A13):c.329-16T>C	Citrin deficiency [RCV003830338]	likely benign	7	96208993	96208993	Human	1	name
405179925	CV3147413	single nucleotide variant	NM_014251.3(SLC25A13):c.469-13T>G	Citrin deficiency [RCV003842315]	likely benign	7	96193196	96193196	Human	1	name
405185710	CV3148996	single nucleotide variant	NM_014251.3(SLC25A13):c.1750+2T>C	Citrin deficiency [RCV003842918]	likely pathogenic	7	96121837	96121837	Human	1	name
405174156	CV3151950	single nucleotide variant	NM_014251.3(SLC25A13):c.468+11C>A	Citrin deficiency [RCV003858101]	likely benign	7	96208827	96208827	Human	1	name
402470074	CV3171058	single nucleotide variant	NM_014251.3(SLC25A13):c.469-19T>C	Citrin deficiency [RCV003874021]	likely benign	7	96193202	96193202	Human	1	name
405211422	CV3173389	single nucleotide variant	NM_014251.3(SLC25A13):c.1019-7A>C	Citrin deficiency [RCV003862138]	likely benign	7	96184442	96184442	Human	1	name
402468134	CV3174183	single nucleotide variant	NM_014251.3(SLC25A13):c.755-15T>G	Citrin deficiency [RCV003873466]	likely benign	7	96189689	96189689	Human	1	name
402514416	CV3178806	single nucleotide variant	NM_014251.3(SLC25A13):c.1178-1G>C	Citrin deficiency [RCV003879239]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005038614]	likely pathogenic	7	96171525	96171525	Human	3	name
402493057	CV3182659	single nucleotide variant	NM_014251.3(SLC25A13):c.934-16T>C	Citrin deficiency [RCV003877146]	likely benign	7	96185027	96185027	Human	1	name
404980718	CV3183404	single nucleotide variant	NM_014251.3(SLC25A13):c.934-11A>G	Citrin deficiency [RCV003880427]	likely benign	7	96185022	96185022	Human	1	name
407476337	CV3494809	single nucleotide variant	NM_014251.3(SLC25A13):c.1018+3T>C	not specified [RCV004690710]	uncertain significance	7	96184924	96184924	Human		name
408376775	CV3505693	single nucleotide variant	NM_014251.3(SLC25A13):c.1311+2T>G	SLC25A13-related disorder [RCV004726648]	pathogenic	7	96170043	96170043	Human		name , trait , alternate_id
12846909	CV370039	single nucleotide variant	NM_014251.3(SLC25A13):c.212+16A>C	Citrin deficiency [RCV003741182]\|not specified [RCV000442555]	likely benign	7	96277180	96277180	Human	1	name
597947451	CV3771687	single nucleotide variant	NM_014251.3(SLC25A13):c.1018+7C>T	Citrin deficiency [RCV005120212]	likely benign	7	96184920	96184920	Human	1	name
597865798	CV3834366	single nucleotide variant	NM_014251.3(SLC25A13):c.849-12T>C	Citrin deficiency [RCV005175733]	likely benign	7	96189390	96189390	Human	1	name
597861419	CV3880883	single nucleotide variant	NM_014251.3(SLC25A13):c.1230+1G>C	Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005229711]	pathogenic	7	96171471	96171471	Human	2	name
13837931	CV589229	single nucleotide variant	NM_014251.3(SLC25A13):c.1591+7G>A	Citrin deficiency [RCV002536522]\|not provided [RCV000734501]	likely benign\|uncertain significance	7	96131736	96131736	Human	1	name
13838207	CV589506	deletion	NM_014251.3(SLC25A13):c.1751-5del	Citrin deficiency [RCV003741216]\|not provided [RCV000734833]	benign\|uncertain significance	7	96121750	96121750	Human	1	name
13838351	CV589653	single nucleotide variant	NM_014251.3(SLC25A13):c.1452+7T>C	not provided [RCV000735021]	uncertain significance	7	96146549	96146549	Human		name
21406048	CV799526	deletion	NM_014251.3(SLC25A13):c.848+28del	not provided [RCV001683719]\|not specified [RCV001001821]	benign	7	96189553	96189553	Human		name
26913625	CV851169	single nucleotide variant	NM_014251.3(SLC25A13):c.1453-1G>A	Citrin deficiency [RCV001054372]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV001376648]\|SLC25A13-related disorder [RCV003405262]	pathogenic\|likely pathogenic	7	96131882	96131882	Human	2	name , trait , alternate_id
28905699	CV900421	single nucleotide variant	NM_014251.3(SLC25A13):c.1019-6T>C	Citrin deficiency [RCV002070952]\|Citrullinemia type II [RCV001158570]	likely benign\|uncertain significance	7	96184441	96184441	Human	1	name
41405443	CV981613	single nucleotide variant	NM_014251.3(SLC25A13):c.615+36T>C	not provided [RCV001541553]	benign\|likely benign	7	96193001	96193001	Human		name
127241182	CV1074929	single nucleotide variant	NM_014251.3(SLC25A13):c.1751-14C>T	Citrin deficiency [RCV001393084]	likely benign	7	96121759	96121759	Human	1	name
127264790	CV1074930	single nucleotide variant	NM_014251.3(SLC25A13):c.1751-22T>C	Citrin deficiency [RCV001403412]	likely benign	7	96121767	96121767	Human	1	name
127239715	CV1074931	single nucleotide variant	NM_014251.3(SLC25A13):c.1751-27A>G	Citrin deficiency [RCV001415420]	likely benign	7	96121772	96121772	Human	1	name
127334238	CV1118107	single nucleotide variant	NM_014251.3(SLC25A13):c.1751-12A>G	Citrin deficiency [RCV001473461]	likely benign	7	96121757	96121757	Human	1	name
127336804	CV1118110	single nucleotide variant	NM_014251.3(SLC25A13):c.1591+10C>G	Citrin deficiency [RCV001475231]	likely benign	7	96131733	96131733	Human	1	name
127337084	CV1118111	single nucleotide variant	NM_014251.3(SLC25A13):c.1591+10C>A	Citrin deficiency [RCV001475387]	likely benign	7	96131733	96131733	Human	1	name
150333276	CV1164326	deletion	NM_014251.3(SLC25A13):c.1452+19del	not provided [RCV001580097]\|not specified [RCV001528793]	benign\|likely benign	7	96146537	96146537	Human		name
150332296	CV1169264	single nucleotide variant	NM_014251.3(SLC25A13):c.933+131C>A	not provided [RCV001536816]	benign	7	96189163	96189163	Human		name
150336783	CV1171786	single nucleotide variant	NM_014251.3(SLC25A13):c.1312-67T>A	not provided [RCV001541185]	benign	7	96146763	96146763	Human		name
150334507	CV1171787	single nucleotide variant	NM_014251.3(SLC25A13):c.933+211C>G	not provided [RCV001540084]	likely benign	7	96189083	96189083	Human		name
150426062	CV1184049	single nucleotide variant	NM_014251.3(SLC25A13):c.755-235C>G	not provided [RCV001558860]	likely benign	7	96189909	96189909	Human		name
150412902	CV1190723	single nucleotide variant	NM_014251.3(SLC25A13):c.1591+56C>T	not provided [RCV001567046]	likely benign	7	96131687	96131687	Human		name
150410539	CV1190724	single nucleotide variant	NM_014251.3(SLC25A13):c.1177+93G>A	not provided [RCV001566107]	likely benign	7	96184184	96184184	Human		name
150404987	CV1194001	single nucleotide variant	NM_014251.3(SLC25A13):c.1018+46T>G	not provided [RCV001571423]	likely benign	7	96184881	96184881	Human		name
150449919	CV1205204	single nucleotide variant	NM_014251.3(SLC25A13):c.1592-79G>A	not provided [RCV001585103]	likely benign	7	96122076	96122076	Human		name
150466968	CV1207017	single nucleotide variant	NM_014251.3(SLC25A13):c.755-297G>C	not provided [RCV001587809]	likely benign	7	96189971	96189971	Human		name
150511448	CV1242717	single nucleotide variant	NM_014251.3(SLC25A13):c.468+285G>A	not provided [RCV001661069]	benign	7	96208553	96208553	Human		name
150509990	CV1248458	single nucleotide variant	NM_014251.3(SLC25A13):c.328+141A>G	not provided [RCV001659526]	benign	7	96234661	96234661	Human		name
150503329	CV1257772	single nucleotide variant	NM_014251.3(SLC25A13):c.1019-84G>A	not provided [RCV001677460]	benign	7	96184519	96184519	Human		name
150478494	CV1281966	single nucleotide variant	NM_014251.3(SLC25A13):c.1452+98C>G	not provided [RCV001714304]	benign	7	96146458	96146458	Human		name
151232373	CV1316762	single nucleotide variant	NM_014251.3(SLC25A13):c.934-123T>C	not provided [RCV001786582]	likely benign	7	96185134	96185134	Human		name
151233439	CV1317084	single nucleotide variant	NM_014251.3(SLC25A13):c.1018+31T>C	not provided [RCV001786905]	likely benign	7	96184896	96184896	Human		name
152029565	CV1568525	single nucleotide variant	NM_014251.3(SLC25A13):c.1751-27A>T	Citrin deficiency [RCV002186206]	likely benign	7	96121772	96121772	Human	1	name
156416781	CV1898138	single nucleotide variant	NM_014251.3(SLC25A13):c.1591+11C>T	Citrin deficiency [RCV002610357]	likely benign	7	96131732	96131732	Human	1	name
156275531	CV1900206	single nucleotide variant	NM_014251.3(SLC25A13):c.1591+17G>A	Citrin deficiency [RCV003086937]	likely benign	7	96131726	96131726	Human	1	name
156055654	CV1934119	single nucleotide variant	NM_014251.3(SLC25A13):c.1178-13T>C	Citrin deficiency [RCV002638098]	likely benign	7	96171537	96171537	Human	1	name
156118104	CV1952506	single nucleotide variant	NM_014251.3(SLC25A13):c.1591+13C>A	Citrin deficiency [RCV002571753]	likely benign	7	96131730	96131730	Human	1	name
156323707	CV1976392	single nucleotide variant	NM_014251.3(SLC25A13):c.1592-20G>T	Citrin deficiency [RCV002600396]	likely benign	7	96122017	96122017	Human	1	name
156025629	CV2025682	single nucleotide variant	NM_014251.3(SLC25A13):c.1751-23G>T	Citrin deficiency [RCV002735582]	likely benign	7	96121768	96121768	Human	1	name
155981922	CV2078503	single nucleotide variant	NM_014251.3(SLC25A13):c.1591+10C>T	Citrin deficiency [RCV002863811]	likely benign	7	96131733	96131733	Human	1	name
155958595	CV2087163	single nucleotide variant	NM_014251.3(SLC25A13):c.1751-21G>A	Citrin deficiency [RCV002862744]	likely benign	7	96121766	96121766	Human	1	name
156360415	CV2162485	single nucleotide variant	NM_014251.3(SLC25A13):c.1230+18G>A	Citrin deficiency [RCV003031525]	likely benign	7	96171454	96171454	Human	1	name
405074306	CV2893908	single nucleotide variant	NM_014251.3(SLC25A13):c.1751-28T>C	Citrin deficiency [RCV003581342]	likely benign	7	96121773	96121773	Human	1	name
405074896	CV2893956	single nucleotide variant	NM_014251.3(SLC25A13):c.1312-13T>C	Citrin deficiency [RCV003581382]	likely benign	7	96146709	96146709	Human	1	name
405077175	CV2895708	single nucleotide variant	NM_014251.3(SLC25A13):c.1453-17C>A	Citrin deficiency [RCV003581536]	likely benign	7	96131898	96131898	Human	1	name
405089150	CV2896835	single nucleotide variant	NM_014251.3(SLC25A13):c.1230+18G>C	Citrin deficiency [RCV003582735]	likely benign	7	96171454	96171454	Human	1	name
405075419	CV2898143	single nucleotide variant	NM_014251.3(SLC25A13):c.1592-15G>T	Citrin deficiency [RCV003581416]	likely benign	7	96122012	96122012	Human	1	name
405076886	CV2902289	single nucleotide variant	NM_014251.3(SLC25A13):c.1177+17C>G	Citrin deficiency [RCV003581513]	benign	7	96184260	96184260	Human	1	name
405088951	CV2903360	single nucleotide variant	NM_014251.3(SLC25A13):c.1453-11C>T	Citrin deficiency [RCV003582719]	likely benign	7	96131892	96131892	Human	1	name
405092267	CV2910121	single nucleotide variant	NM_014251.3(SLC25A13):c.1230+20G>A	Citrin deficiency [RCV003582953]	likely benign	7	96171452	96171452	Human	1	name
405091117	CV2913498	single nucleotide variant	NM_014251.3(SLC25A13):c.1019-12G>A	Citrin deficiency [RCV003582887]	likely benign	7	96184447	96184447	Human	1	name
405091396	CV2920162	single nucleotide variant	NM_014251.3(SLC25A13):c.1019-20A>G	Citrin deficiency [RCV003582908]	likely benign	7	96184455	96184455	Human	1	name
405093271	CV2925454	single nucleotide variant	NM_014251.3(SLC25A13):c.1231-20T>A	Citrin deficiency [RCV003583064]	likely benign	7	96170145	96170145	Human	1	name
405061044	CV2944394	single nucleotide variant	NM_014251.3(SLC25A13):c.1452+19T>G	Citrin deficiency [RCV003741417]	likely benign	7	96146537	96146537	Human	1	name
405060258	CV2958172	single nucleotide variant	NM_014251.3(SLC25A13):c.1751-26T>C	Citrin deficiency [RCV003741518]	likely benign	7	96121771	96121771	Human	1	name
405063329	CV2976504	deletion	NM_014251.3(SLC25A13):c.1452+20del	Citrin deficiency [RCV003741767]	likely benign	7	96146536	96146536	Human	1	name
405066405	CV2996142	single nucleotide variant	NM_014251.3(SLC25A13):c.1177+15C>G	Citrin deficiency [RCV003742014]	likely benign	7	96184262	96184262	Human	1	name
405069061	CV3010925	single nucleotide variant	NM_014251.3(SLC25A13):c.1591+19G>A	Citrin deficiency [RCV003742233]	likely benign	7	96131724	96131724	Human	1	name
405071308	CV3027638	single nucleotide variant	NM_014251.3(SLC25A13):c.1841+18T>C	Citrin deficiency [RCV003742391]	likely benign	7	96121637	96121637	Human	1	name
405071473	CV3028252	single nucleotide variant	NM_014251.3(SLC25A13):c.1841+12G>C	Citrin deficiency [RCV003742267]	likely benign	7	96121643	96121643	Human	1	name
405072175	CV3032815	single nucleotide variant	NM_014251.3(SLC25A13):c.1452+18T>G	Citrin deficiency [RCV003742451]	likely benign	7	96146538	96146538	Human	1	name
405073468	CV3046954	single nucleotide variant	NM_014251.3(SLC25A13):c.1177+17C>T	Citrin deficiency [RCV003742541]	likely benign	7	96184260	96184260	Human	1	name
405052824	CV3057069	single nucleotide variant	NM_014251.3(SLC25A13):c.1592-13G>A	Citrin deficiency [RCV003740761]	likely benign	7	96122010	96122010	Human	1	name
405053761	CV3062234	single nucleotide variant	NM_014251.3(SLC25A13):c.1750+18T>C	Citrin deficiency [RCV003740867]	likely benign	7	96121821	96121821	Human	1	name
405052894	CV3064049	single nucleotide variant	NM_014251.3(SLC25A13):c.1591+14A>G	Citrin deficiency [RCV003740791]	likely benign	7	96131729	96131729	Human	1	name
11599700	CV307122	single nucleotide variant	NM_014251.3(SLC25A13):c.1230+11T>C	Citrin deficiency [RCV003581651]\|Citrullinemia type I [RCV000267637]\|Citrullinemia type II [RCV000320495]	benign\|uncertain significance	7	96171461	96171461	Human	2	name
405057301	CV3080039	single nucleotide variant	NM_014251.3(SLC25A13):c.1452+20A>T	Citrin deficiency [RCV003741057]	likely benign	7	96146536	96146536	Human	1	name
405203687	CV3116845	single nucleotide variant	NM_014251.3(SLC25A13):c.1841+13C>A	Citrin deficiency [RCV003822329]	likely benign	7	96121642	96121642	Human	1	name
11604436	CV312065	deletion	NM_014251.3(SLC25A13):c.1312-12del	Citrin deficiency [RCV000390702]\|Citrullinemia type I [RCV000308700]	conflicting interpretations of pathogenicity\|uncertain significance	7	96146708	96146708	Human	2	name
405173386	CV3122929	single nucleotide variant	NM_014251.3(SLC25A13):c.1231-14T>A	Citrin deficiency [RCV003819327]	likely benign	7	96170139	96170139	Human	1	name
405037680	CV3130925	single nucleotide variant	NM_014251.3(SLC25A13):c.1750+13T>C	Citrin deficiency [RCV003831143]	likely benign	7	96121826	96121826	Human	1	name
405020392	CV3139142	single nucleotide variant	NM_014251.3(SLC25A13):c.1750+14G>A	Citrin deficiency [RCV003829784]	likely benign	7	96121825	96121825	Human	1	name
405072012	CV3140369	single nucleotide variant	NM_014251.3(SLC25A13):c.1230+20G>C	Citrin deficiency [RCV003833524]	likely benign	7	96171452	96171452	Human	1	name
405159991	CV3159851	single nucleotide variant	NM_014251.3(SLC25A13):c.1178-19A>G	Citrin deficiency [RCV003856922]	likely benign	7	96171543	96171543	Human	1	name
402480512	CV3170696	single nucleotide variant	NM_014251.3(SLC25A13):c.1750+16G>A	Citrin deficiency [RCV003875898]	likely benign	7	96121823	96121823	Human	1	name
402479316	CV3174343	single nucleotide variant	NM_014251.3(SLC25A13):c.1177+12A>G	Citrin deficiency [RCV003875690]	likely benign	7	96184265	96184265	Human	1	name
402469752	CV3174806	single nucleotide variant	NM_014251.3(SLC25A13):c.1592-14T>C	Citrin deficiency [RCV003873917]	likely benign	7	96122011	96122011	Human	1	name
402510675	CV3178319	single nucleotide variant	NM_014251.3(SLC25A13):c.1841+17A>G	Citrin deficiency [RCV003878936]	likely benign	7	96121638	96121638	Human	1	name
402511258	CV3178368	single nucleotide variant	NM_014251.3(SLC25A13):c.1230+15T>G	Citrin deficiency [RCV003878985]	likely benign	7	96171457	96171457	Human	1	name
405001825	CV3184077	single nucleotide variant	NM_014251.3(SLC25A13):c.1841+19C>T	Citrin deficiency [RCV003882660]	likely benign	7	96121636	96121636	Human	1	name
12843814	CV369319	single nucleotide variant	NM_014251.3(SLC25A13):c.1842-12C>A	Citrin deficiency [RCV003581660]\|not specified [RCV000436901]	benign\|likely benign	7	96121389	96121389	Human	1	name
597848008	CV3762043	single nucleotide variant	NM_014251.3(SLC25A13):c.1312-11G>C	Citrin deficiency [RCV005087461]	likely benign	7	96146707	96146707	Human	1	name
597919922	CV3765051	deletion	NM_014251.3(SLC25A13):c.1018+17del	Citrin deficiency [RCV005115067]	likely benign	7	96184910	96184910	Human	1	name
597921043	CV3765210	deletion	NM_014251.3(SLC25A13):c.1312-20del	Citrin deficiency [RCV005115227]	likely benign	7	96146716	96146716	Human	1	name
597886633	CV3800137	single nucleotide variant	NM_014251.3(SLC25A13):c.1231-19A>G	Citrin deficiency [RCV005150617]	likely benign	7	96170144	96170144	Human	1	name
14709319	CV662595	single nucleotide variant	NM_014251.3(SLC25A13):c.1841+11T>C	Citrin deficiency [RCV002536094]\|not provided [RCV000827400]	likely benign	7	96121644	96121644	Human	1	name
14719354	CV663089	single nucleotide variant	NM_014251.3(SLC25A13):c.933+162G>A	not provided [RCV000830736]	benign	7	96189132	96189132	Human		name
14746069	CV663105	single nucleotide variant	NM_014251.3(SLC25A13):c.754+202A>G	not provided [RCV000844046]	benign	7	96190907	96190907	Human		name
15110107	CV775202	single nucleotide variant	NM_014251.3(SLC25A13):c.1751-24T>C	Citrin deficiency [RCV000938481]	likely benign	7	96121769	96121769	Human	1	name
15127795	CV775429	single nucleotide variant	NM_014251.3(SLC25A13):c.1751-29A>G	Citrin deficiency [RCV000941604]	likely benign	7	96121774	96121774	Human	1	name
150411755	CV1176971	single nucleotide variant	NM_014251.3(SLC25A13):c.1312-133T>C	not provided [RCV001547287]	likely benign	7	96146829	96146829	Human		name
150419146	CV1197741	single nucleotide variant	NM_014251.3(SLC25A13):c.1178-237T>C	not provided [RCV001577045]	likely benign	7	96171761	96171761	Human		name
150499278	CV1224563	single nucleotide variant	NM_014251.3(SLC25A13):c.1452+160G>A	not provided [RCV001620394]	benign	7	96146396	96146396	Human		name
150434960	CV1231223	single nucleotide variant	NM_014251.3(SLC25A13):c.1178-173G>A	not provided [RCV001643868]	benign	7	96171697	96171697	Human		name
150456450	CV1235209	single nucleotide variant	NM_014251.3(SLC25A13):c.1231-106A>G	not provided [RCV001648625]	benign	7	96170231	96170231	Human		name
150437879	CV1249946	single nucleotide variant	NM_014251.3(SLC25A13):c.1312-141G>A	not provided [RCV001665860]	benign	7	96146837	96146837	Human		name
151232483	CV1316805	single nucleotide variant	NM_014251.3(SLC25A13):c.1177+155C>T	not provided [RCV001786625]	likely benign	7	96184122	96184122	Human		name
156327216	CV2184466	deletion	NM_014251.3(SLC25A13):c.70-12_72del	Citrin deficiency [RCV003047000]	pathogenic	7	96277336	96277350	Human	1	name
8649643	CV126217	single nucleotide variant	NM_014251.2(SLC25A13):c.1311+8513A>T	Lung cancer [RCV000106704]	uncertain significance	7	96161532	96161532	Human		name
156164122	CV1687827	deletion	NM_014251.3(SLC25A13):c.70-63_132del	Neonatal intrahepatic cholestasis due to citrin deficiency [RCV002508347]	pathogenic	7	96277276	96277401	Human	1	name
155268860	CV1705687	deletion	NM_014251.3(SLC25A13):c.679_684del	not provided [RCV002286294]	likely benign	7	96120507	96120512	Human		name
405869745	CV3399466	deletion	NM_014251.3(SLC25A13):c.15+2_15+11del	Citrullinemia, type II, adult-onset [RCV004573611]	likely pathogenic	7	96321931	96321940	Human	1	name
127232652	CV1096600	single nucleotide variant	NM_014251.3(SLC25A13):c.9C>T (p.Ala3=)	Citrin deficiency [RCV001421391]	likely benign	7	96321948	96321948	Human	1	name
405054595	CV3070488	deletion	NM_014251.3(SLC25A13):c.16-14_16-13del	Citrin deficiency [RCV003740943]	likely benign	7	96296964	96296965	Human	1	name
11606304	CV312144	single nucleotide variant	NM_014251.3(SLC25A13):c.6G>T (p.Ala2=)	Citrin deficiency [RCV000386707]\|Citrullinemia type I [RCV000329771]\|Citrullinemia type II [RCV001095252]\|SLC25A13-related disorder [RCV003897806]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	96321951	96321951	Human	3	name , trait , alternate_id
126921494	CV1045200	deletion	NM_014251.3(SLC25A13):c.1666_1842-31del	Citrin deficiency [RCV001363561]	uncertain significance	7	96121408	96121923	Human	1	name
127245088	CV1096590	deletion	NM_014251.3(SLC25A13):c.755-24_755-3del	Citrin deficiency [RCV001435156]	likely benign	7	96189677	96189698	Human	1	name
152119227	CV1589167	single nucleotide variant	NM_014251.3(SLC25A13):c.12C>T (p.Ala4=)	Citrin deficiency [RCV002216553]	likely benign	7	96321945	96321945	Human	1	name
152027828	CV1642531	single nucleotide variant	NM_014251.3(SLC25A13):c.21T>C (p.Ala7=)	Citrin deficiency [RCV002185633]	likely benign	7	96296946	96296946	Human	1	name
156442461	CV1938695	microsatellite	NM_014251.3(SLC25A13):c.469-12_469-9del	Citrin deficiency [RCV003112806]	likely benign	7	96193192	96193195	Human		name
8566959	CV34362	single nucleotide variant	NM_014251.3(SLC25A13):c.15G>A (p.Lys5=)	Citrin deficiency [RCV001851978]\|Citrullinemia, type II, adult-onset [RCV003473113]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV000020700]	pathogenic\|likely pathogenic\|not provided	7	96321942	96321942	Human	3	name
152090546	CV1594104	single nucleotide variant	NM_014251.3(SLC25A13):c.66G>A (p.Leu22=)	Citrin deficiency [RCV002171765]	likely benign	7	96296901	96296901	Human	1	name
152167698	CV1644799	single nucleotide variant	NM_014251.3(SLC25A13):c.75A>G (p.Ala25=)	Citrin deficiency [RCV002142223]	likely benign	7	96277333	96277333	Human	1	name
152165458	CV1649253	single nucleotide variant	NM_014251.3(SLC25A13):c.84G>A (p.Glu28=)	Citrin deficiency [RCV002204249]	likely benign	7	96277324	96277324	Human	1	name
152085660	CV1663313	single nucleotide variant	NM_014251.3(SLC25A13):c.45T>C (p.Ala15=)	Citrin deficiency [RCV002171136]	likely benign	7	96296922	96296922	Human	1	name
152152371	CV1664470	single nucleotide variant	NM_014251.3(SLC25A13):c.60A>T (p.Ile20=)	Citrin deficiency [RCV002158382]	likely benign	7	96296907	96296907	Human	1	name
10049507	CV190535	single nucleotide variant	NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr)	Citrin deficiency [RCV000536292]\|Citrullinemia type I [RCV000987931]\|Citrullinemia type II [RCV001163311]\|Citrullinemia, type II, adult-onset [RCV001331839]\|Late-onset citrullinemia [RCV001272105]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV002470789]\|Neonatal intrahepatic cholest ... (more) asis due to citrin deficiency [RCV004796066]\|SLC25A13-related disorder [RCV004742306]\|not provided [RCV000724177]\|not specified [RCV003155104]	conflicting interpretations of pathogenicity\|uncertain significance	7	96321955	96321955	Human	4	name , trait , alternate_id
10050795	CV192455	single nucleotide variant	NM_014251.3(SLC25A13):c.51T>C (p.Leu17=)	not provided [RCV000175857]	uncertain significance	7	96296916	96296916	Human		name
156441860	CV1941512	deletion	NM_014251.3(SLC25A13):c.1841+3_1841+4del	Citrin deficiency [RCV003112193]	likely pathogenic	7	96121651	96121652	Human	1	name
156118271	CV2035719	single nucleotide variant	NM_014251.3(SLC25A13):c.81T>C (p.Ile27=)	Citrin deficiency [RCV002785683]	likely benign	7	96277327	96277327	Human	1	name
11546672	CV252990	single nucleotide variant	NM_014251.3(SLC25A13):c.93T>C (p.Gly31=)	Citrin deficiency [RCV001083985]\|not provided [RCV001812732]\|not specified [RCV000246771]	benign	7	96277315	96277315	Human	1	name
401860183	CV2748964	single nucleotide variant	NM_014251.3(SLC25A13):c.1A>T (p.Met1Leu)	not specified [RCV003331787]	uncertain significance	7	96321956	96321956	Human		name
405091799	CV2919539	single nucleotide variant	NM_014251.3(SLC25A13):c.48G>A (p.Glu16=)	Citrin deficiency [RCV003582868]	likely benign	7	96296919	96296919	Human	1	name
404979571	CV3183227	single nucleotide variant	NM_014251.3(SLC25A13):c.42A>C (p.Pro14=)	Citrin deficiency [RCV003880250]	likely benign	7	96296925	96296925	Human	1	name
597938764	CV3775166	single nucleotide variant	NM_014251.3(SLC25A13):c.36A>C (p.Ala12=)	Citrin deficiency [RCV005117992]	likely benign	7	96296931	96296931	Human	1	name
13833756	CV584994	single nucleotide variant	NM_014251.3(SLC25A13):c.2T>A (p.Met1Lys)	Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005046986]\|not provided [RCV000729106]	likely pathogenic\|uncertain significance	7	96321955	96321955	Human	2	name
15129458	CV787571	deletion	NM_014251.3(SLC25A13):c.213-14_213-10del	Citrin deficiency [RCV001490638]	likely benign	7	96234927	96234931	Human	1	name
28869921	CV898568	single nucleotide variant	NM_014251.3(SLC25A13):c.90C>T (p.Asn30=)	Citrin deficiency [RCV001481882]\|Citrullinemia type II [RCV001163309]	likely benign\|uncertain significance	7	96277318	96277318	Human	1	name
127282929	CV1074944	single nucleotide variant	NM_014251.3(SLC25A13):c.225T>C (p.Phe75=)	Citrin deficiency [RCV001411466]	likely benign	7	96234905	96234905	Human	1	name
127278786	CV1096598	single nucleotide variant	NM_014251.3(SLC25A13):c.255G>A (p.Leu85=)	Citrin deficiency [RCV001445318]	likely benign	7	96234875	96234875	Human	1	name
127239395	CV1096599	single nucleotide variant	NM_014251.3(SLC25A13):c.252C>G (p.Val84=)	Citrin deficiency [RCV001433963]	likely benign	7	96234878	96234878	Human	1	name
127321973	CV1118127	single nucleotide variant	NM_014251.3(SLC25A13):c.195G>A (p.Val65=)	Citrin deficiency [RCV001467422]	likely benign	7	96277213	96277213	Human	1	name
127291441	CV1118128	single nucleotide variant	NM_014251.3(SLC25A13):c.159T>C (p.Pro53=)	Citrin deficiency [RCV001476081]	likely benign	7	96277249	96277249	Human	1	name
127297624	CV1139056	single nucleotide variant	NM_014251.3(SLC25A13):c.294G>T (p.Leu98=)	Citrin deficiency [RCV001497813]	likely benign	7	96234836	96234836	Human	1	name
152046548	CV1561464	single nucleotide variant	NM_014251.3(SLC25A13):c.165A>G (p.Pro55=)	Citrin deficiency [RCV002108407]	likely benign	7	96277243	96277243	Human	1	name
152175980	CV1562115	single nucleotide variant	NM_014251.3(SLC25A13):c.117C>T (p.Asp39=)	Citrin deficiency [RCV002164119]	likely benign	7	96277291	96277291	Human	1	name
152089537	CV1581537	single nucleotide variant	NM_014251.3(SLC25A13):c.276T>C (p.Phe92=)	Citrin deficiency [RCV002077517]	likely benign	7	96234854	96234854	Human	1	name
152146763	CV1635539	single nucleotide variant	NM_014251.3(SLC25A13):c.108C>G (p.Ser36=)	Citrin deficiency [RCV002201353]	likely benign	7	96277300	96277300	Human	1	name
156240053	CV1882388	insertion	NM_014251.3(SLC25A13):c.468+19_468+20insT	Citrin deficiency [RCV003085708]	likely benign	7	96208818	96208819	Human	1	name
156142740	CV1959789	single nucleotide variant	NM_014251.3(SLC25A13):c.294G>A (p.Leu98=)	Citrin deficiency [RCV002572629]	likely benign	7	96234836	96234836	Human	1	name
156013757	CV1986153	single nucleotide variant	NM_014251.3(SLC25A13):c.255G>C (p.Leu85=)	Citrin deficiency [RCV002636358]\|SLC25A13-related disorder [RCV004725341]	likely benign	7	96234875	96234875	Human	2	name , trait , alternate_id
156018942	CV2019229	single nucleotide variant	NM_014251.3(SLC25A13):c.201G>A (p.Gln67=)	Citrin deficiency [RCV002690903]	likely benign	7	96277207	96277207	Human	1	name
156374376	CV2049080	single nucleotide variant	NM_014251.3(SLC25A13):c.168G>A (p.Lys56=)	Citrin deficiency [RCV002814567]	likely benign	7	96277240	96277240	Human	1	name
156028080	CV2109030	single nucleotide variant	NM_014251.3(SLC25A13):c.270T>C (p.Ala90=)	Citrin deficiency [RCV002909936]	likely benign	7	96234860	96234860	Human	1	name
156013679	CV2133840	single nucleotide variant	NM_014251.3(SLC25A13):c.270T>A (p.Ala90=)	Citrin deficiency [RCV003017879]	likely benign	7	96234860	96234860	Human	1	name
156175560	CV2144740	single nucleotide variant	NM_014251.3(SLC25A13):c.231A>G (p.Glu77=)	Citrin deficiency [RCV003005535]	likely benign	7	96234899	96234899	Human	1	name
155984330	CV2163333	single nucleotide variant	NM_014251.3(SLC25A13):c.129A>T (p.Arg43=)	Citrin deficiency [RCV003034026]	likely benign	7	96277279	96277279	Human	1	name
401949115	CV2838545	duplication	NM_014251.3(SLC25A13):c.89dup (p.Asn30fs)	Citrin deficiency [RCV003741356]\|Citrullinemia, type II, adult-onset [RCV003472803]	pathogenic\|likely pathogenic	7	96277318	96277319	Human	2	name
405089197	CV2907170	single nucleotide variant	NM_014251.3(SLC25A13):c.111C>T (p.Pro37=)	Citrin deficiency [RCV003582739]	likely benign	7	96277297	96277297	Human	1	name
405093408	CV2922190	deletion	NM_014251.3(SLC25A13):c.27del (p.Lys10fs)	Citrin deficiency [RCV003583075]	pathogenic	7	96296940	96296940	Human	1	name
15110697	CV775388	insertion	NM_014251.3(SLC25A13):c.1751-4_1751-3insT	Citrin deficiency [RCV000938601]\|Citrullinemia [RCV001832141]\|SLC25A13-related disorder [RCV003895705]	likely benign	7	96121748	96121749	Human	3	name , trait , alternate_id
15117594	CV782966	single nucleotide variant	NM_014251.3(SLC25A13):c.153C>T (p.Ser51=)	Citrin deficiency [RCV001397186]	likely benign	7	96277255	96277255	Human	1	name
15106789	CV782967	single nucleotide variant	NM_014251.3(SLC25A13):c.108C>T (p.Ser36=)	Citrin deficiency [RCV001456502]	likely benign	7	96277300	96277300	Human	1	name
126766803	CV1007711	deletion	NM_014251.3(SLC25A13):c.1751-12_1751-10del	Citrin deficiency [RCV001320594]	likely benign\|uncertain significance	7	96121755	96121757	Human	1	name
127259706	CV1061180	deletion	NM_014251.3(SLC25A13):c.276del (p.Phe92fs)	Citrin deficiency [RCV001387206]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005038200]	pathogenic\|likely pathogenic	7	96234854	96234854	Human	3	name
127246754	CV1074940	single nucleotide variant	NM_014251.3(SLC25A13):c.978A>G (p.Ala326=)	Citrin deficiency [RCV001416795]	likely benign	7	96184967	96184967	Human	1	name
127283195	CV1074941	single nucleotide variant	NM_014251.3(SLC25A13):c.876G>T (p.Arg292=)	Citrin deficiency [RCV001411607]	likely benign	7	96189351	96189351	Human	1	name
127256123	CV1074942	single nucleotide variant	NM_014251.3(SLC25A13):c.543C>A (p.Ile181=)	Citrin deficiency [RCV001401193]	likely benign	7	96193109	96193109	Human	1	name
127238464	CV1074943	single nucleotide variant	NM_014251.3(SLC25A13):c.528G>C (p.Gly176=)	Citrin deficiency [RCV001415109]	likely benign	7	96193124	96193124	Human	1	name
127236790	CV1096592	single nucleotide variant	NM_014251.3(SLC25A13):c.678C>G (p.Leu226=)	Citrin deficiency [RCV001422596]	likely benign	7	96191185	96191185	Human	1	name
127252501	CV1096593	single nucleotide variant	NM_014251.3(SLC25A13):c.570C>T (p.Ile190=)	Citrin deficiency [RCV001425842]	likely benign	7	96193082	96193082	Human	1	name
127233372	CV1096594	single nucleotide variant	NM_014251.3(SLC25A13):c.567C>T (p.Thr189=)	Citrin deficiency [RCV001421743]	likely benign	7	96193085	96193085	Human	1	name
127276049	CV1096595	single nucleotide variant	NM_014251.3(SLC25A13):c.558C>T (p.Ile186=)	Citrin deficiency [RCV001432610]	likely benign	7	96193094	96193094	Human	1	name
127268667	CV1096596	single nucleotide variant	NM_014251.3(SLC25A13):c.534C>T (p.Val178=)	Citrin deficiency [RCV001430043]\|SLC25A13-related disorder [RCV003965816]	likely benign	7	96193118	96193118	Human	2	name , trait , alternate_id
127232801	CV1096597	single nucleotide variant	NM_014251.3(SLC25A13):c.466T>C (p.Leu156=)	Citrin deficiency [RCV001421450]	likely benign	7	96208840	96208840	Human	1	name
127295566	CV1118116	single nucleotide variant	NM_014251.3(SLC25A13):c.984G>A (p.Ser328=)	Citrin deficiency [RCV001452552]	likely benign	7	96184961	96184961	Human	1	name
127299974	CV1118117	single nucleotide variant	NM_014251.3(SLC25A13):c.906C>T (p.Pro302=)	Citrin deficiency [RCV001460990]	likely benign	7	96189321	96189321	Human	1	name
127294972	CV1118119	single nucleotide variant	NM_014251.3(SLC25A13):c.807T>G (p.Val269=)	Citrin deficiency [RCV001452360]	likely benign	7	96189622	96189622	Human	1	name
127317818	CV1118120	single nucleotide variant	NM_014251.3(SLC25A13):c.663T>C (p.Asn221=)	Citrin deficiency [RCV001466000]	likely benign	7	96191200	96191200	Human	1	name
127334639	CV1118123	single nucleotide variant	NM_014251.3(SLC25A13):c.606T>C (p.Cys202=)	Citrin deficiency [RCV001473721]	likely benign	7	96193046	96193046	Human	1	name
127311411	CV1118124	single nucleotide variant	NM_014251.3(SLC25A13):c.483G>A (p.Glu161=)	Citrin deficiency [RCV001464156]\|SLC25A13-related disorder [RCV003900601]	likely benign	7	96193169	96193169	Human	2	name , trait , alternate_id
127291749	CV1118125	single nucleotide variant	NM_014251.3(SLC25A13):c.378A>G (p.Pro126=)	Citrin deficiency [RCV001476161]	likely benign	7	96208928	96208928	Human	1	name
127316455	CV1139047	single nucleotide variant	NM_014251.3(SLC25A13):c.987C>G (p.Ala329=)	Citrin deficiency [RCV001503023]	likely benign	7	96184958	96184958	Human	1	name
127314116	CV1139049	single nucleotide variant	NM_014251.3(SLC25A13):c.765T>C (p.Val255=)	Citrin deficiency [RCV001482147]	likely benign	7	96189664	96189664	Human	1	name
127288863	CV1139051	single nucleotide variant	NM_014251.3(SLC25A13):c.675G>T (p.Ser225=)	Citrin deficiency [RCV001495440]	likely benign	7	96191188	96191188	Human	1	name
127315624	CV1139052	single nucleotide variant	NM_014251.3(SLC25A13):c.582C>A (p.Val194=)	Citrin deficiency [RCV001482568]	likely benign	7	96193070	96193070	Human	1	name
127320275	CV1139053	single nucleotide variant	NM_014251.3(SLC25A13):c.402G>A (p.Val134=)	Citrin deficiency [RCV001484111]	likely benign	7	96208904	96208904	Human	1	name
127316697	CV1139054	single nucleotide variant	NM_014251.3(SLC25A13):c.354G>A (p.Gln118=)	Citrin deficiency [RCV001482949]	likely benign	7	96208952	96208952	Human	1	name
127320081	CV1139057	single nucleotide variant	NM_014251.3(SLC25A13):c.80T>G (p.Ile27Ser)	Citrin deficiency [RCV001504291]	likely benign	7	96277328	96277328	Human	1	name
127321974	CV1155803	single nucleotide variant	NM_014251.3(SLC25A13):c.576C>G (p.Pro192=)	Citrin deficiency [RCV001523308]\|SLC25A13-related disorder [RCV003900774]	benign\|likely benign	7	96193076	96193076	Human	2	name , trait , alternate_id
150414054	CV1199773	single nucleotide variant	NM_014251.3(SLC25A13):c.73G>A (p.Ala25Thr)	Citrin deficiency [RCV002570819]\|Citrullinemia, type II, adult-onset [RCV001579131]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV001579132]	uncertain significance	7	96277335	96277335	Human	3	name
151780450	CV1357571	single nucleotide variant	NM_014251.3(SLC25A13):c.94G>T (p.Glu32Ter)	Citrin deficiency [RCV001875306]	pathogenic	7	96277314	96277314	Human	1	name
151719452	CV1422028	deletion	NM_014251.3(SLC25A13):c.124del (p.Thr42fs)	Citrin deficiency [RCV001909497]	pathogenic	7	96277284	96277284	Human	1	name
151744975	CV1428085	deletion	NM_014251.3(SLC25A13):c.111del (p.Asn38fs)	Citrin deficiency [RCV001926856]	pathogenic	7	96277297	96277297	Human	1	name
152143331	CV1542969	single nucleotide variant	NM_014251.3(SLC25A13):c.990C>T (p.Tyr330=)	Citrin deficiency [RCV002178343]	likely benign	7	96184955	96184955	Human	1	name
152119836	CV1547164	single nucleotide variant	NM_014251.3(SLC25A13):c.873A>G (p.Glu291=)	Citrin deficiency [RCV002154113]	likely benign	7	96189354	96189354	Human	1	name
152060474	CV1557273	single nucleotide variant	NM_014251.3(SLC25A13):c.768G>A (p.Leu256=)	Citrin deficiency [RCV002146711]	likely benign	7	96189661	96189661	Human	1	name
152050379	CV1585723	single nucleotide variant	NM_014251.3(SLC25A13):c.477A>G (p.Gln159=)	Citrin deficiency [RCV002145615]	likely benign	7	96193175	96193175	Human	1	name
152051474	CV1607085	single nucleotide variant	NM_014251.3(SLC25A13):c.438G>T (p.Leu146=)	Citrin deficiency [RCV002109024]	likely benign	7	96208868	96208868	Human	1	name
152161592	CV1619476	single nucleotide variant	NM_014251.3(SLC25A13):c.444T>C (p.Tyr148=)	Citrin deficiency [RCV002159737]	likely benign	7	96208862	96208862	Human	1	name
152080186	CV1620684	single nucleotide variant	NM_014251.3(SLC25A13):c.798C>T (p.Pro266=)	Citrin deficiency [RCV002112641]	likely benign	7	96189631	96189631	Human	1	name
152158997	CV1620966	single nucleotide variant	NM_014251.3(SLC25A13):c.582C>T (p.Val194=)	Citrin deficiency [RCV002203106]	likely benign	7	96193070	96193070	Human	1	name
152085779	CV1621091	single nucleotide variant	NM_014251.3(SLC25A13):c.492G>A (p.Lys164=)	Citrin deficiency [RCV002193614]	likely benign	7	96193160	96193160	Human	1	name
152156441	CV1626963	single nucleotide variant	NM_014251.3(SLC25A13):c.654C>T (p.Ser218=)	Citrin deficiency [RCV002103021]	likely benign	7	96191209	96191209	Human	1	name
152048652	CV1627587	insertion	NM_014251.3(SLC25A13):c.1452+9_1452+10insG	Citrin deficiency [RCV002108661]	likely benign	7	96146546	96146547	Human	1	name
152043712	CV1637731	single nucleotide variant	NM_014251.3(SLC25A13):c.822G>A (p.Gln274=)	Citrin deficiency [RCV002144837]	likely benign	7	96189607	96189607	Human	1	name
152108010	CV1643419	single nucleotide variant	NM_014251.3(SLC25A13):c.999T>G (p.Gly333=)	Citrin deficiency [RCV002096452]	likely benign	7	96184946	96184946	Human	1	name
152062933	CV1663841	single nucleotide variant	NM_014251.3(SLC25A13):c.858C>T (p.Thr286=)	Citrin deficiency [RCV002073898]	likely benign	7	96189369	96189369	Human	1	name
152119771	CV1664844	single nucleotide variant	NM_014251.3(SLC25A13):c.609A>G (p.Leu203=)	Citrin deficiency [RCV002117696]	likely benign	7	96193043	96193043	Human	1	name
156418494	CV1922236	single nucleotide variant	NM_014251.3(SLC25A13):c.537A>C (p.Thr179=)	Citrin deficiency [RCV002611691]	likely benign	7	96193115	96193115	Human	1	name
156118143	CV1927179	single nucleotide variant	NM_014251.3(SLC25A13):c.91G>A (p.Gly31Ser)	Citrin deficiency [RCV002640202]	uncertain significance	7	96277317	96277317	Human	1	name
156373578	CV1932918	single nucleotide variant	NM_014251.3(SLC25A13):c.53G>C (p.Arg18Thr)	Citrin deficiency [RCV002633626]	uncertain significance	7	96296914	96296914	Human	1	name
156405686	CV1994525	single nucleotide variant	NM_014251.3(SLC25A13):c.874C>A (p.Arg292=)	Citrin deficiency [RCV002658369]	likely benign	7	96189353	96189353	Human	1	name
156123754	CV2012232	single nucleotide variant	NM_014251.3(SLC25A13):c.747G>T (p.Val249=)	Citrin deficiency [RCV002696139]	likely benign	7	96191116	96191116	Human	1	name
156113025	CV2039017	single nucleotide variant	NM_014251.3(SLC25A13):c.573C>T (p.Arg191=)	Citrin deficiency [RCV002785476]	likely benign	7	96193079	96193079	Human	1	name
156065039	CV2054303	single nucleotide variant	NM_014251.3(SLC25A13):c.633A>G (p.Thr211=)	Citrin deficiency [RCV002797226]	likely benign	7	96191230	96191230	Human	1	name
155950498	CV2058713	single nucleotide variant	NM_014251.3(SLC25A13):c.816G>A (p.Leu272=)	Citrin deficiency [RCV002816242]	likely benign	7	96189613	96189613	Human	1	name
156052314	CV2064615	single nucleotide variant	NM_014251.3(SLC25A13):c.957A>G (p.Arg319=)	Citrin deficiency [RCV002846478]	likely benign	7	96184988	96184988	Human	1	name
156021285	CV2082740	single nucleotide variant	NM_014251.3(SLC25A13):c.564C>T (p.Val188=)	Citrin deficiency [RCV002884970]	likely benign	7	96193088	96193088	Human	1	name
156102306	CV2084224	single nucleotide variant	NM_014251.3(SLC25A13):c.885T>A (p.Pro295=)	Citrin deficiency [RCV002848128]	likely benign	7	96189342	96189342	Human	1	name
155980451	CV2090311	single nucleotide variant	NM_014251.3(SLC25A13):c.714C>T (p.Ser238=)	Citrin deficiency [RCV002881907]	likely benign	7	96191149	96191149	Human	1	name
156135132	CV2097316	single nucleotide variant	NM_014251.3(SLC25A13):c.732G>A (p.Arg244=)	Citrin deficiency [RCV002890095]	likely benign	7	96191131	96191131	Human	1	name
156125895	CV2100524	single nucleotide variant	NM_014251.3(SLC25A13):c.864A>G (p.Ala288=)	Citrin deficiency [RCV002889750]	likely benign	7	96189363	96189363	Human	1	name
156163318	CV2135616	single nucleotide variant	NM_014251.3(SLC25A13):c.693A>G (p.Glu231=)	Citrin deficiency [RCV002983087]	likely benign	7	96191170	96191170	Human	1	name
156051629	CV2165267	single nucleotide variant	NM_014251.3(SLC25A13):c.504G>A (p.Val168=)	Citrin deficiency [RCV003019415]	likely benign	7	96193148	96193148	Human	1	name
401718902	CV2704858	single nucleotide variant	NM_014251.3(SLC25A13):c.29A>G (p.Lys10Arg)	Inborn genetic diseases [RCV003266703]	uncertain significance	7	96296938	96296938	Human	1	name
11641713	CV271238	single nucleotide variant	NM_014251.3(SLC25A13):c.882T>C (p.Ala294=)	Citrin deficiency [RCV001087364]\|SLC25A13-related disorder [RCV003949884]\|not provided [RCV000361623]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	96189345	96189345	Human	2	name , trait , alternate_id
401949015	CV2838546	indel	NM_014251.3(SLC25A13):c.1176_1177+1delinsT	Citrullinemia, type II, adult-onset [RCV003472804]	likely pathogenic	7	96184276	96184278	Human		name
401949030	CV2838561	single nucleotide variant	NM_014251.3(SLC25A13):c.74C>A (p.Ala25Glu)	Citrullinemia, type II, adult-onset [RCV003472819]	likely pathogenic	7	96277334	96277334	Human	1	name
405083556	CV2859735	single nucleotide variant	NM_014251.3(SLC25A13):c.906C>A (p.Pro302=)	Citrin deficiency [RCV003582296]	likely benign	7	96189321	96189321	Human	1	name
405074699	CV2887436	single nucleotide variant	NM_014251.3(SLC25A13):c.534C>G (p.Val178=)	Citrin deficiency [RCV003581369]	likely benign	7	96193118	96193118	Human	1	name
405075176	CV2890838	single nucleotide variant	NM_014251.3(SLC25A13):c.666A>T (p.Gly222=)	Citrin deficiency [RCV003581401]	likely benign	7	96191197	96191197	Human	1	name
405077222	CV2899261	microsatellite	NM_014251.3(SLC25A13):c.1592-13_1592-12del	Citrin deficiency [RCV003581482]	likely benign	7	96122009	96122010	Human		name
405080790	CV2933082	single nucleotide variant	NM_014251.3(SLC25A13):c.885T>G (p.Pro295=)	Citrin deficiency [RCV003582019]	likely benign	7	96189342	96189342	Human	1	name
405060681	CV2951728	single nucleotide variant	NM_014251.3(SLC25A13):c.357C>T (p.Thr119=)	Citrin deficiency [RCV003741555]	likely benign	7	96208949	96208949	Human	1	name
405062688	CV2965177	deletion	NM_014251.3(SLC25A13):c.175del (p.Glu59fs)	Citrin deficiency [RCV003741709]	pathogenic	7	96277233	96277233	Human	1	name
405062893	CV2968932	single nucleotide variant	NM_014251.3(SLC25A13):c.582C>G (p.Val194=)	Citrin deficiency [RCV003741726]	likely benign	7	96193070	96193070	Human	1	name
405062505	CV2975288	single nucleotide variant	NM_014251.3(SLC25A13):c.747G>C (p.Val249=)	Citrin deficiency [RCV003741694]	likely benign	7	96191116	96191116	Human	1	name
405065839	CV3001498	single nucleotide variant	NM_014251.3(SLC25A13):c.453T>C (p.Phe151=)	Citrin deficiency [RCV003741970]	likely benign	7	96208853	96208853	Human	1	name
405067803	CV3005083	single nucleotide variant	NM_014251.3(SLC25A13):c.471A>G (p.Glu157=)	Citrin deficiency [RCV003742120]	likely benign	7	96193181	96193181	Human	1	name
405068608	CV3010102	single nucleotide variant	NM_014251.3(SLC25A13):c.744A>G (p.Glu248=)	Citrin deficiency [RCV003742202]	likely benign	7	96191119	96191119	Human	1	name
405070629	CV3026274	single nucleotide variant	NM_014251.3(SLC25A13):c.597A>G (p.Val199=)	Citrin deficiency [RCV003742342]	likely benign	7	96193055	96193055	Human	1	name
405070528	CV3029563	single nucleotide variant	NM_014251.3(SLC25A13):c.930G>A (p.Arg310=)	Citrin deficiency [RCV003742335]	likely benign	7	96189297	96189297	Human	1	name
405070555	CV3029701	single nucleotide variant	NM_014251.3(SLC25A13):c.729C>G (p.Thr243=)	Citrin deficiency [RCV003742337]	likely benign	7	96191134	96191134	Human	1	name
405055076	CV3061701	single nucleotide variant	NM_014251.3(SLC25A13):c.963T>C (p.Val321=)	Citrin deficiency [RCV003740844]	likely benign	7	96184982	96184982	Human	1	name
405056210	CV3074656	deletion	NM_014251.3(SLC25A13):c.152del (p.Ser51fs)	Citrin deficiency [RCV003741070]	pathogenic	7	96277256	96277256	Human	1	name
11659847	CV312067	single nucleotide variant	NM_014251.3(SLC25A13):c.711T>C (p.Tyr237=)	Citrin deficiency [RCV002519512]\|Citrullinemia type I [RCV000394124]\|Citrullinemia type II [RCV000361887]	likely benign\|uncertain significance	7	96191152	96191152	Human	2	name
11603811	CV312132	single nucleotide variant	NM_014251.3(SLC25A13):c.675G>A (p.Ser225=)	Citrin deficiency [RCV000303749]\|Citrullinemia [RCV001272103]\|Citrullinemia type I [RCV000356501]\|Citrullinemia type II [RCV001095214]\|not provided [RCV004705449]\|not specified [RCV000419793]	benign\|likely benign	7	96191188	96191188	Human	3	name
404993033	CV3132435	single nucleotide variant	NM_014251.3(SLC25A13):c.508C>A (p.Arg170=)	Citrin deficiency [RCV003827374]	likely benign	7	96193144	96193144	Human	1	name
405217348	CV3143706	single nucleotide variant	NM_014251.3(SLC25A13):c.528G>A (p.Gly176=)	Citrin deficiency [RCV003846676]	likely benign	7	96193124	96193124	Human	1	name
405229740	CV3153557	single nucleotide variant	NM_014251.3(SLC25A13):c.624A>C (p.Gly208=)	Citrin deficiency [RCV003848622]	likely benign	7	96191239	96191239	Human	1	name
405869741	CV3399462	deletion	NM_014251.3(SLC25A13):c.220del (p.Ser74fs)	Citrullinemia, type II, adult-onset [RCV004573607]	likely pathogenic	7	96234910	96234910	Human	1	name
405869742	CV3399463	single nucleotide variant	NM_014251.3(SLC25A13):c.72T>G (p.Tyr24Ter)	Citrullinemia, type II, adult-onset [RCV004573608]	likely pathogenic	7	96277336	96277336	Human	1	name
405869746	CV3399467	deletion	NM_014251.3(SLC25A13):c.264del (p.Asp89fs)	Citrullinemia, type II, adult-onset [RCV004573612]	likely pathogenic	7	96234866	96234866	Human	1	name
408390027	CV3519164	single nucleotide variant	NM_014251.3(SLC25A13):c.70T>C (p.Tyr24His)	not provided [RCV004762473]	uncertain significance	7	96277338	96277338	Human		name
597723637	CV3729086	deletion	NM_014251.3(SLC25A13):c.247del (p.Ser83fs)	Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005035950]	likely pathogenic	7	96234883	96234883	Human	2	name
13522424	CV491041	single nucleotide variant	NM_014251.3(SLC25A13):c.960A>G (p.Pro320=)	Citrin deficiency [RCV001087459]\|Citrullinemia [RCV001829652]\|SLC25A13-related disorder [RCV003962689]\|not provided [RCV000591722]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	96184985	96184985	Human	3	name , trait , alternate_id
13521996	CV492959	single nucleotide variant	NM_014251.3(SLC25A13):c.756G>A (p.Glu252=)	Citrin deficiency [RCV001082101]\|not provided [RCV000591173]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	96189673	96189673	Human	1	name
13525541	CV502173	single nucleotide variant	NM_014251.3(SLC25A13):c.543C>T (p.Ile181=)	Citrin deficiency [RCV001489275]\|not specified [RCV000603255]	likely benign	7	96193109	96193109	Human	1	name
13836874	CV588157	single nucleotide variant	NM_014251.3(SLC25A13):c.486C>T (p.His162=)	Citrin deficiency [RCV001452539]\|not provided [RCV000733115]	likely benign\|uncertain significance	7	96193166	96193166	Human	1	name
15113854	CV692336	single nucleotide variant	NM_014251.3(SLC25A13):c.408A>G (p.Leu136=)	Citrin deficiency [RCV000872830]\|Citrullinemia type II [RCV001163308]\|SLC25A13-related disorder [RCV003955696]	likely benign\|uncertain significance	7	96208898	96208898	Human	2	name , trait , alternate_id
15189438	CV736364	single nucleotide variant	NM_014251.3(SLC25A13):c.507A>G (p.Gln169=)	Citrin deficiency [RCV001415737]	likely benign	7	96193145	96193145	Human	1	name
15160250	CV750859	single nucleotide variant	NM_014251.3(SLC25A13):c.306T>C (p.Ala102=)	Citrin deficiency [RCV000925446]\|Citrullinemia [RCV001832088]\|SLC25A13-related disorder [RCV003903052]	benign\|likely benign	7	96234824	96234824	Human	3	name , trait , alternate_id
15176114	CV766491	single nucleotide variant	NM_014251.3(SLC25A13):c.720G>A (p.Leu240=)	Citrin deficiency [RCV001412256]	likely benign	7	96191143	96191143	Human	1	name
15176262	CV766492	single nucleotide variant	NM_014251.3(SLC25A13):c.666A>C (p.Gly222=)	Citrin deficiency [RCV000928878]\|Citrullinemia type II [RCV001161789]\|Late-onset citrullinemia [RCV001272332]\|SLC25A13-related disorder [RCV004743207]	likely benign\|uncertain significance	7	96191197	96191197	Human	3	name , trait , alternate_id
15176267	CV766493	single nucleotide variant	NM_014251.3(SLC25A13):c.333T>C (p.Asp111=)	Citrin deficiency [RCV000928879]	likely benign	7	96208973	96208973	Human	1	name
15119350	CV782965	single nucleotide variant	NM_014251.3(SLC25A13):c.723T>G (p.Ala241=)	not provided [RCV000979104]	likely benign	7	96191140	96191140	Human		name
28867285	CV898566	single nucleotide variant	NM_014251.3(SLC25A13):c.633A>C (p.Thr211=)	Citrin deficiency [RCV001477991]\|Citrullinemia type II [RCV001161791]	likely benign\|uncertain significance	7	96191230	96191230	Human	1	name
38487037	CV924963	single nucleotide variant	NM_014251.3(SLC25A13):c.79A>G (p.Ile27Val)	Citrin deficiency [RCV001220580]	uncertain significance	7	96277329	96277329	Human	1	name
38469952	CV934051	single nucleotide variant	NM_014251.3(SLC25A13):c.318A>G (p.Glu106=)	Citrin deficiency [RCV001202479]	uncertain significance	7	96234812	96234812	Human	1	name
126763786	CV1007712	single nucleotide variant	NM_014251.3(SLC25A13):c.107C>G (p.Ser36Cys)	Citrin deficiency [RCV001319385]	uncertain significance	7	96277301	96277301	Human	1	name
126918437	CV1045203	single nucleotide variant	NM_014251.3(SLC25A13):c.173T>C (p.Val58Ala)	Citrin deficiency [RCV001361721]\|Citrullinemia [RCV001826010]	uncertain significance	7	96277235	96277235	Human	2	name
127256712	CV1061176	deletion	NM_014251.3(SLC25A13):c.792del (p.Thr265fs)	Citrin deficiency [RCV001386601]	pathogenic	7	96189637	96189637	Human	1	name
127259573	CV1061179	deletion	NM_014251.3(SLC25A13):c.420del (p.Glu141fs)	Citrin deficiency [RCV001380173]	pathogenic	7	96208886	96208886	Human	1	name
127257551	CV1074928	single nucleotide variant	NM_014251.3(SLC25A13):c.1770A>T (p.Ser590=)	Citrin deficiency [RCV001401490]	likely benign	7	96121726	96121726	Human	1	name
127231782	CV1074932	single nucleotide variant	NM_014251.3(SLC25A13):c.1722A>T (p.Gly574=)	Citrin deficiency [RCV001395461]	likely benign	7	96121867	96121867	Human	1	name
127237113	CV1074933	single nucleotide variant	NM_014251.3(SLC25A13):c.1593T>C (p.Gly531=)	Citrin deficiency [RCV001397045]	likely benign	7	96121996	96121996	Human	1	name
127253216	CV1074935	single nucleotide variant	NM_014251.3(SLC25A13):c.1560A>G (p.Pro520=)	Citrin deficiency [RCV001400484]	likely benign	7	96131774	96131774	Human	1	name
127260224	CV1074936	single nucleotide variant	NM_014251.3(SLC25A13):c.1083A>T (p.Ser361=)	Citrin deficiency [RCV001402141]	likely benign	7	96184371	96184371	Human	1	name
127270285	CV1074937	single nucleotide variant	NM_014251.3(SLC25A13):c.1038G>A (p.Val346=)	Citrin deficiency [RCV001404936]	likely benign	7	96184416	96184416	Human	1	name
127246965	CV1074938	single nucleotide variant	NM_014251.3(SLC25A13):c.1008T>C (p.Ser336=)	Citrin deficiency [RCV001399060]	likely benign	7	96184937	96184937	Human	1	name
127272674	CV1074939	single nucleotide variant	NM_014251.3(SLC25A13):c.1000C>T (p.Leu334=)	Citrin deficiency [RCV001405775]	likely benign	7	96184945	96184945	Human	1	name
127239805	CV1096576	single nucleotide variant	NM_014251.3(SLC25A13):c.1924C>T (p.Leu642=)	Citrin deficiency [RCV001423189]	likely benign	7	96121295	96121295	Human	1	name
127261037	CV1096577	single nucleotide variant	NM_014251.3(SLC25A13):c.1908C>T (p.His636=)	Citrin deficiency [RCV001438728]	likely benign	7	96121311	96121311	Human	1	name
127283972	CV1096578	single nucleotide variant	NM_014251.3(SLC25A13):c.1905T>C (p.Asp635=)	Citrin deficiency [RCV001448897]	likely benign	7	96121314	96121314	Human	1	name
127257226	CV1096579	single nucleotide variant	NM_014251.3(SLC25A13):c.1869T>C (p.Pro623=)	Citrin deficiency [RCV001427058]	likely benign	7	96121350	96121350	Human	1	name
127252282	CV1096580	single nucleotide variant	NM_014251.3(SLC25A13):c.1809A>G (p.Leu603=)	Citrin deficiency [RCV001425802]	likely benign	7	96121687	96121687	Human	1	name
127253831	CV1096581	single nucleotide variant	NM_014251.3(SLC25A13):c.1806G>A (p.Leu602=)	Citrin deficiency [RCV001437081]	likely benign	7	96121690	96121690	Human	1	name
127239277	CV1096582	single nucleotide variant	NM_014251.3(SLC25A13):c.1689A>T (p.Ile563=)	Citrin deficiency [RCV001423094]	likely benign	7	96121900	96121900	Human	1	name
127276180	CV1096583	single nucleotide variant	NM_014251.3(SLC25A13):c.1569G>C (p.Leu523=)	Citrin deficiency [RCV001432653]	likely benign	7	96131765	96131765	Human	1	name
127259224	CV1096584	single nucleotide variant	NM_014251.3(SLC25A13):c.1566C>T (p.Ser522=)	Citrin deficiency [RCV001438319]	likely benign	7	96131768	96131768	Human	1	name
127263381	CV1096586	single nucleotide variant	NM_014251.3(SLC25A13):c.1185G>A (p.Leu395=)	Citrin deficiency [RCV001439272]	likely benign	7	96171517	96171517	Human	1	name
127245579	CV1096587	single nucleotide variant	NM_014251.3(SLC25A13):c.1107C>A (p.Leu369=)	Citrin deficiency [RCV001424362]	likely benign	7	96184347	96184347	Human	1	name
127291399	CV1118106	single nucleotide variant	NM_014251.3(SLC25A13):c.1986G>A (p.Lys662=)	Citrin deficiency [RCV001476066]	likely benign	7	96121233	96121233	Human	1	name
127331835	CV1118108	single nucleotide variant	NM_014251.3(SLC25A13):c.1635G>A (p.Lys545=)	Citrin deficiency [RCV001471808]	likely benign	7	96121954	96121954	Human	1	name
127301958	CV1118113	single nucleotide variant	NM_014251.3(SLC25A13):c.1515T>C (p.Ala505=)	Citrin deficiency [RCV001454332]	likely benign	7	96131819	96131819	Human	1	name
127337432	CV1118114	single nucleotide variant	NM_014251.3(SLC25A13):c.1413G>T (p.Leu471=)	Citrin deficiency [RCV001475671]	likely benign	7	96146595	96146595	Human	1	name
127296268	CV1118115	single nucleotide variant	NM_014251.3(SLC25A13):c.1392T>G (p.Thr464=)	Citrin deficiency [RCV001452703]	likely benign	7	96146616	96146616	Human	1	name
127335765	CV1139035	single nucleotide variant	NM_014251.3(SLC25A13):c.1972C>T (p.Leu658=)	Citrin deficiency [RCV001491708]	likely benign	7	96121247	96121247	Human	1	name
127335820	CV1139036	single nucleotide variant	NM_014251.3(SLC25A13):c.1935T>G (p.Ala645=)	Citrin deficiency [RCV001491736]	likely benign	7	96121284	96121284	Human	1	name
127295198	CV1139037	single nucleotide variant	NM_014251.3(SLC25A13):c.1917C>T (p.Gly639=)	Citrin deficiency [RCV001497207]	likely benign	7	96121302	96121302	Human	1	name
127315705	CV1139038	single nucleotide variant	NM_014251.3(SLC25A13):c.1896G>A (p.Pro632=)	Citrin deficiency [RCV001502793]\|SLC25A13-related disorder [RCV003966029]	likely benign	7	96121323	96121323	Human	2	name , trait , alternate_id
127286266	CV1139042	single nucleotide variant	NM_014251.3(SLC25A13):c.1269T>C (p.Asp423=)	Citrin deficiency [RCV001494085]	likely benign	7	96170087	96170087	Human	1	name
127305905	CV1139043	single nucleotide variant	NM_014251.3(SLC25A13):c.1263C>T (p.His421=)	Citrin deficiency [RCV001479872]	likely benign	7	96170093	96170093	Human	1	name
127296332	CV1139045	single nucleotide variant	NM_014251.3(SLC25A13):c.1143G>A (p.Val381=)	Citrin deficiency [RCV001497442]	likely benign	7	96184311	96184311	Human	1	name
127288164	CV1139046	single nucleotide variant	NM_014251.3(SLC25A13):c.1077A>G (p.Gln359=)	Citrin deficiency [RCV001495120]	likely benign	7	96184377	96184377	Human	1	name
151782860	CV1369901	single nucleotide variant	NM_014251.3(SLC25A13):c.1425G>A (p.Arg475=)	Citrin deficiency [RCV001930603]	likely benign\|uncertain significance	7	96146583	96146583	Human	1	name
151798026	CV1376573	single nucleotide variant	NM_014251.3(SLC25A13):c.127C>T (p.Arg43Ter)	Citrin deficiency [RCV001932041]\|Citrullinemia, type II, adult-onset [RCV003475124]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV002503416]\|SLC25A13-related disorder [RCV004743606]\|not provided [RCV003132567]	pathogenic\|likely pathogenic	7	96277281	96277281	Human	3	name , trait , alternate_id
151833174	CV1396292	duplication	NM_014251.3(SLC25A13):c.528dup (p.Arg177fs)	Citrin deficiency [RCV001902012]\|Citrullinemia, type II, adult-onset [RCV003470969]	pathogenic\|likely pathogenic	7	96193123	96193124	Human	2	name
151893080	CV1411924	single nucleotide variant	NM_014251.3(SLC25A13):c.132C>G (p.Tyr44Ter)	Citrin deficiency [RCV001944743]	pathogenic	7	96277276	96277276	Human	1	name
151825901	CV1442878	single nucleotide variant	NM_014251.3(SLC25A13):c.1524G>A (p.Lys508=)	Citrin deficiency [RCV002013832]	likely benign\|uncertain significance	7	96131810	96131810	Human	1	name
151887903	CV1484653	single nucleotide variant	NM_014251.3(SLC25A13):c.229G>T (p.Glu77Ter)	Citrin deficiency [RCV001963086]\|Citrullinemia, type II, adult-onset [RCV003475256]	pathogenic\|likely pathogenic	7	96234901	96234901	Human	2	name
152086635	CV1531781	single nucleotide variant	NM_014251.3(SLC25A13):c.1647G>A (p.Gln549=)	Citrin deficiency [RCV002077070]	likely benign	7	96121942	96121942	Human	1	name
152063428	CV1535601	single nucleotide variant	NM_014251.3(SLC25A13):c.1029C>A (p.Ala343=)	Citrin deficiency [RCV002168289]	likely benign	7	96184425	96184425	Human	1	name
152061441	CV1540784	single nucleotide variant	NM_014251.3(SLC25A13):c.1464A>C (p.Ala488=)	Citrin deficiency [RCV002110162]\|SLC25A13-related disorder [RCV003984221]	likely benign	7	96131870	96131870	Human	2	name , trait , alternate_id
152125520	CV1554075	single nucleotide variant	NM_014251.3(SLC25A13):c.1653T>C (p.Ala551=)	Citrin deficiency [RCV002098766]	likely benign	7	96121936	96121936	Human	1	name
152064102	CV1554579	single nucleotide variant	NM_014251.3(SLC25A13):c.1047C>T (p.Ile349=)	Citrin deficiency [RCV002190904]	likely benign	7	96184407	96184407	Human	1	name
152029170	CV1555675	single nucleotide variant	NM_014251.3(SLC25A13):c.1104A>G (p.Glu368=)	Citrin deficiency [RCV002186075]	likely benign	7	96184350	96184350	Human	1	name
152164483	CV1557629	single nucleotide variant	NM_014251.3(SLC25A13):c.1656C>T (p.Ala552=)	Citrin deficiency [RCV002141529]	likely benign	7	96121933	96121933	Human	1	name
152060493	CV1559206	single nucleotide variant	NM_014251.3(SLC25A13):c.1107C>T (p.Leu369=)	Citrin deficiency [RCV002167942]	likely benign	7	96184347	96184347	Human	1	name
152040760	CV1561870	single nucleotide variant	NM_014251.3(SLC25A13):c.1650G>T (p.Val550=)	Citrin deficiency [RCV002188224]	likely benign	7	96121939	96121939	Human	1	name
152166606	CV1566500	single nucleotide variant	NM_014251.3(SLC25A13):c.1197G>A (p.Leu399=)	Citrin deficiency [RCV002160682]	likely benign	7	96171505	96171505	Human	1	name
152095449	CV1575241	single nucleotide variant	NM_014251.3(SLC25A13):c.1494C>T (p.Ala498=)	Citrin deficiency [RCV002132564]	likely benign	7	96131840	96131840	Human	1	name
152098681	CV1578472	single nucleotide variant	NM_014251.3(SLC25A13):c.1206C>T (p.Ala402=)	Citrin deficiency [RCV002151531]	likely benign	7	96171496	96171496	Human	1	name
152046065	CV1580052	single nucleotide variant	NM_014251.3(SLC25A13):c.1944A>C (p.Ala648=)	Citrin deficiency [RCV002071605]	likely benign	7	96121275	96121275	Human	1	name
152141677	CV1588537	single nucleotide variant	NM_014251.3(SLC25A13):c.1608T>C (p.Ser536=)	Citrin deficiency [RCV002200654]	likely benign	7	96121981	96121981	Human	1	name
152046711	CV1591285	single nucleotide variant	NM_014251.3(SLC25A13):c.1722A>G (p.Gly574=)	Citrin deficiency [RCV002188908]	likely benign	7	96121867	96121867	Human	1	name
152094918	CV1599427	single nucleotide variant	NM_014251.3(SLC25A13):c.1644A>G (p.Leu548=)	Citrin deficiency [RCV002094707]	likely benign	7	96121945	96121945	Human	1	name
152063836	CV1612158	single nucleotide variant	NM_014251.3(SLC25A13):c.1845A>G (p.Lys615=)	Citrin deficiency [RCV002128689]	likely benign	7	96121374	96121374	Human	1	name
152157210	CV1615875	single nucleotide variant	NM_014251.3(SLC25A13):c.1662T>C (p.Ala554=)	Citrin deficiency [RCV002158991]	likely benign	7	96121927	96121927	Human	1	name
152030866	CV1622393	single nucleotide variant	NM_014251.3(SLC25A13):c.1581T>G (p.Gly527=)	Citrin deficiency [RCV002186578]	likely benign	7	96131753	96131753	Human	1	name
152083602	CV1623913	single nucleotide variant	NM_014251.3(SLC25A13):c.1567C>T (p.Leu523=)	Citrin deficiency [RCV002149629]	likely benign	7	96131767	96131767	Human	1	name
152077559	CV1630926	single nucleotide variant	NM_014251.3(SLC25A13):c.1509C>T (p.Cys503=)	Citrin deficiency [RCV002130428]	likely benign	7	96131825	96131825	Human	1	name
152075773	CV1632588	single nucleotide variant	NM_014251.3(SLC25A13):c.1078C>A (p.Arg360=)	Citrin deficiency [RCV002169893]	likely benign	7	96184376	96184376	Human	1	name
152134329	CV1638371	single nucleotide variant	NM_014251.3(SLC25A13):c.1983C>T (p.Phe661=)	Citrin deficiency [RCV002083296]	likely benign	7	96121236	96121236	Human	1	name
152088585	CV1638933	single nucleotide variant	NM_014251.3(SLC25A13):c.1740G>A (p.Lys580=)	Citrin deficiency [RCV002150286]\|SLC25A13-related disorder [RCV003895848]	likely benign	7	96121849	96121849	Human	2	name , trait , alternate_id
152125912	CV1641871	single nucleotide variant	NM_014251.3(SLC25A13):c.1854A>C (p.Gly618=)	Citrin deficiency [RCV002176176]	likely benign	7	96121365	96121365	Human	1	name
152148067	CV1647458	single nucleotide variant	NM_014251.3(SLC25A13):c.1410T>G (p.Ala470=)	Citrin deficiency [RCV002201536]	likely benign	7	96146598	96146598	Human	1	name
152146600	CV1649579	single nucleotide variant	NM_014251.3(SLC25A13):c.1464A>G (p.Ala488=)	Citrin deficiency [RCV002121144]	likely benign	7	96131870	96131870	Human	1	name
152052955	CV1658219	single nucleotide variant	NM_014251.3(SLC25A13):c.1377A>G (p.Ala459=)	Citrin deficiency [RCV002207746]	likely benign	7	96146631	96146631	Human	1	name
156358547	CV1873878	single nucleotide variant	NM_014251.3(SLC25A13):c.1449C>T (p.Tyr483=)	Citrin deficiency [RCV003065442]	likely benign	7	96146559	96146559	Human	1	name
156051998	CV1881685	single nucleotide variant	NM_014251.3(SLC25A13):c.1971C>T (p.Tyr657=)	Citrin deficiency [RCV003078909]	likely benign	7	96121248	96121248	Human	1	name
156248077	CV1890657	single nucleotide variant	NM_014251.3(SLC25A13):c.2013T>C (p.Ile671=)	Citrin deficiency [RCV003086001]	likely benign	7	96121206	96121206	Human	1	name
156386520	CV1891887	single nucleotide variant	NM_014251.3(SLC25A13):c.1491G>A (p.Ser497=)	Citrin deficiency [RCV003067604]	likely benign	7	96131843	96131843	Human	1	name
10050191	CV191566	single nucleotide variant	NM_014251.3(SLC25A13):c.1434G>T (p.Gly478=)	Citrin deficiency [RCV000876237]\|Citrullinemia type II [RCV001165294]\|not provided [RCV001697124]\|not specified [RCV000174767]	benign\|likely benign\|uncertain significance	7	96146574	96146574	Human	1	name
156057444	CV1928839	single nucleotide variant	NM_014251.3(SLC25A13):c.1725A>G (p.Pro575=)	Citrin deficiency [RCV002620824]	likely benign	7	96121864	96121864	Human	1	name
156447400	CV1945354	single nucleotide variant	NM_014251.3(SLC25A13):c.2004A>G (p.Ser668=)	Citrin deficiency [RCV003118928]	likely benign	7	96121215	96121215	Human	1	name
156254179	CV1981647	single nucleotide variant	NM_014251.3(SLC25A13):c.1995A>G (p.Val665=)	Citrin deficiency [RCV002645994]	likely benign	7	96121224	96121224	Human	1	name
156008732	CV2019996	single nucleotide variant	NM_014251.3(SLC25A13):c.1251T>C (p.Asp417=)	Citrin deficiency [RCV002734784]	likely benign	7	96170105	96170105	Human	1	name
156373454	CV2028299	single nucleotide variant	NM_014251.3(SLC25A13):c.1473G>A (p.Leu491=)	Citrin deficiency [RCV002721715]	likely benign	7	96131861	96131861	Human	1	name
156273170	CV2067350	single nucleotide variant	NM_014251.3(SLC25A13):c.1725A>T (p.Pro575=)	Citrin deficiency [RCV002856123]	likely benign	7	96121864	96121864	Human	1	name
156235254	CV2081730	deletion	NM_014251.3(SLC25A13):c.687del (p.Asn229fs)	Citrin deficiency [RCV002876391]	pathogenic	7	96191176	96191176	Human	1	name
156231912	CV2085335	single nucleotide variant	NM_014251.3(SLC25A13):c.1245G>A (p.Val415=)	Citrin deficiency [RCV002876269]	likely benign	7	96170111	96170111	Human	1	name
156242414	CV2086040	duplication	NM_014251.3(SLC25A13):c.535dup (p.Thr179fs)	Citrin deficiency [RCV002876643]	pathogenic	7	96193116	96193117	Human	1	name
156084028	CV2094976	single nucleotide variant	NM_014251.3(SLC25A13):c.110C>G (p.Pro37Arg)	Citrin deficiency [RCV002912798]	uncertain significance	7	96277298	96277298	Human	1	name
156227568	CV2115439	single nucleotide variant	NM_014251.3(SLC25A13):c.1812G>A (p.Gln604=)	Citrin deficiency [RCV002918807]	likely benign	7	96121684	96121684	Human	1	name
156029545	CV2156311	single nucleotide variant	NM_014251.3(SLC25A13):c.1080A>G (p.Arg360=)	Citrin deficiency [RCV003018615]	likely benign	7	96184374	96184374	Human	1	name
156272189	CV2168157	single nucleotide variant	NM_014251.3(SLC25A13):c.1998T>C (p.Ser666=)	Citrin deficiency [RCV003027030]	likely benign	7	96121221	96121221	Human	1	name
156223186	CV2173405	single nucleotide variant	NM_014251.3(SLC25A13):c.1362C>A (p.Ile454=)	Citrin deficiency [RCV003025274]	likely benign	7	96146646	96146646	Human	1	name
156126411	CV2176117	single nucleotide variant	NM_014251.3(SLC25A13):c.1789T>C (p.Leu597=)	Citrin deficiency [RCV003039520]	likely benign	7	96121707	96121707	Human	1	name
156142314	CV2177976	deletion	NM_014251.3(SLC25A13):c.363del (p.His122fs)	Citrin deficiency [RCV003040081]	pathogenic	7	96208943	96208943	Human	1	name
11531198	CV247323	single nucleotide variant	NM_014251.3(SLC25A13):c.1311C>T (p.Cys437=)	Citrin deficiency [RCV002518536]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV000239381]	uncertain significance	7	96170045	96170045	Human	2	name
11531203	CV247326	deletion	NM_014251.3(SLC25A13):c.495del (p.Ala166fs)	Neonatal intrahepatic cholestasis due to citrin deficiency [RCV000239388]	pathogenic	7	96193157	96193157	Human	1	name
11549368	CV252988	single nucleotide variant	NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=)	Citrin deficiency [RCV001513948]\|Citrullinemia type I [RCV000372383]\|Citrullinemia type II [RCV000319976]\|Citrullinemia, type II, adult-onset [RCV001532820]\|Late-onset citrullinemia [RCV001277072]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV001532821]\|not provided [RCV001354507]\|n ... (more) ot specified [RCV000250328]	benign\|uncertain significance	7	96171508	96171508	Human	4	name
11639504	CV271016	single nucleotide variant	NM_014251.3(SLC25A13):c.235G>A (p.Val79Ile)	not provided [RCV000322079]	uncertain significance	7	96234895	96234895	Human		name
401764729	CV2728050	single nucleotide variant	NM_014251.3(SLC25A13):c.143T>G (p.Phe48Cys)	Inborn genetic diseases [RCV003301006]	uncertain significance	7	96277265	96277265	Human	1	name
401797168	CV2741999	single nucleotide variant	NM_014251.3(SLC25A13):c.103A>G (p.Met35Val)	Citrullinemia type II [RCV003324175]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005036739]	likely pathogenic	7	96277305	96277305	Human	3	name
11643108	CV274313	single nucleotide variant	NM_014251.3(SLC25A13):c.1680C>T (p.Ser560=)	Citrin deficiency [RCV000533240]\|Citrullinemia type II [RCV001163199]\|Late-onset citrullinemia [RCV001277068]\|not provided [RCV001726091]\|not specified [RCV000387748]	benign\|likely benign\|uncertain significance	7	96121909	96121909	Human	2	name
11642572	CV274349	single nucleotide variant	NM_014251.3(SLC25A13):c.1506G>A (p.Pro502=)	Citrin deficiency [RCV001089067]\|Late-onset citrullinemia [RCV001277320]\|not provided [RCV000377857]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	96131828	96131828	Human	2	name
401947647	CV2838536	deletion	NM_014251.3(SLC25A13):c.671del (p.Asn224fs)	Citrullinemia, type II, adult-onset [RCV003466390]	likely pathogenic	7	96191192	96191192	Human	1	name
401947651	CV2838538	deletion	NM_014251.3(SLC25A13):c.353del (p.Gln118fs)	Citrullinemia, type II, adult-onset [RCV003466392]	likely pathogenic	7	96208953	96208953	Human	1	name
401949029	CV2838560	duplication	NM_014251.3(SLC25A13):c.577dup (p.His193fs)	Citrullinemia, type II, adult-onset [RCV003472818]	likely pathogenic	7	96193074	96193075	Human	1	name
401949031	CV2838562	deletion	NM_014251.3(SLC25A13):c.889del (p.Glu297fs)	Citrullinemia, type II, adult-onset [RCV003472820]	likely pathogenic	7	96189338	96189338	Human	1	name
405083787	CV2866834	single nucleotide variant	NM_014251.3(SLC25A13):c.1345T>C (p.Leu449=)	Citrin deficiency [RCV003582313]	likely benign	7	96146663	96146663	Human	1	name
405071580	CV2881056	single nucleotide variant	NM_014251.3(SLC25A13):c.1020T>C (p.Ala340=)	Citrin deficiency [RCV003581077]	likely benign	7	96184434	96184434	Human	1	name
405073389	CV2892459	single nucleotide variant	NM_014251.3(SLC25A13):c.1158C>G (p.Gly386=)	Citrin deficiency [RCV003581191]	likely benign	7	96184296	96184296	Human	1	name
405076376	CV2897816	single nucleotide variant	NM_014251.3(SLC25A13):c.1602A>G (p.Ala534=)	Citrin deficiency [RCV003581404]	likely benign	7	96121987	96121987	Human	1	name
405089253	CV2903445	single nucleotide variant	NM_014251.3(SLC25A13):c.1195T>C (p.Leu399=)	Citrin deficiency [RCV003582743]	likely benign	7	96171507	96171507	Human	1	name
405093547	CV2910658	single nucleotide variant	NM_014251.3(SLC25A13):c.1056A>G (p.Val352=)	Citrin deficiency [RCV003582985]	likely benign	7	96184398	96184398	Human	1	name
405090990	CV2916106	single nucleotide variant	NM_014251.3(SLC25A13):c.1977T>C (p.Pro659=)	Citrin deficiency [RCV003582878]	likely benign	7	96121242	96121242	Human	1	name
405092089	CV2916931	single nucleotide variant	NM_014251.3(SLC25A13):c.1053T>C (p.Leu351=)	Citrin deficiency [RCV003582939]	likely benign	7	96184401	96184401	Human	1	name
405090806	CV2919360	single nucleotide variant	NM_014251.3(SLC25A13):c.1431G>C (p.Leu477=)	Citrin deficiency [RCV003582864]	likely benign	7	96146577	96146577	Human	1	name
405091383	CV2920157	single nucleotide variant	NM_014251.3(SLC25A13):c.1182G>C (p.Leu394=)	Citrin deficiency [RCV003582907]	likely benign	7	96171520	96171520	Human	1	name
405092012	CV2920407	single nucleotide variant	NM_014251.3(SLC25A13):c.1578T>G (p.Ala526=)	Citrin deficiency [RCV003582933]	likely benign	7	96131756	96131756	Human	1	name
405093906	CV2928718	single nucleotide variant	NM_014251.3(SLC25A13):c.1611A>G (p.Leu537=)	Citrin deficiency [RCV003583093]	likely benign	7	96121978	96121978	Human	1	name
405061873	CV2967524	single nucleotide variant	NM_014251.3(SLC25A13):c.1617C>G (p.Thr539=)	Citrin deficiency [RCV003741640]	likely benign	7	96121972	96121972	Human	1	name
405064305	CV2982169	single nucleotide variant	NM_014251.3(SLC25A13):c.1605A>G (p.Ala535=)	Citrin deficiency [RCV003741850]	likely benign	7	96121984	96121984	Human	1	name
405068036	CV3005252	single nucleotide variant	NM_014251.3(SLC25A13):c.1467C>T (p.Cys489=)	Citrin deficiency [RCV003742138]	likely benign	7	96131867	96131867	Human	1	name
405072520	CV3041830	single nucleotide variant	NM_014251.3(SLC25A13):c.1788T>C (p.Thr596=)	Citrin deficiency [RCV003742474]	likely benign	7	96121708	96121708	Human	1	name
11601577	CV312060	single nucleotide variant	NM_014251.3(SLC25A13):c.1797T>A (p.Thr599=)	Citrin deficiency [RCV001447525]\|Citrullinemia type I [RCV000337119]\|Citrullinemia type II [RCV000283345]	likely benign\|uncertain significance	7	96121699	96121699	Human	2	name
11604256	CV312066	single nucleotide variant	NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=)	Citrin deficiency [RCV000307465]\|Citrullinemia type I [RCV000360049]\|Citrullinemia type II [RCV001095294]\|Late-onset citrullinemia [RCV001272329]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV001507323]\|SLC25A13-related disorder [RCV003902403]\|n ... (more) ot provided [RCV000597633]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	96170081	96170081	Human	4	name , trait , alternate_id
11605725	CV312094	single nucleotide variant	NM_014251.3(SLC25A13):c.1884C>T (p.Asn628=)	Citrin deficiency [RCV000323231]\|Citrullinemia type I [RCV000380140]\|Citrullinemia type II [RCV001095247]\|Late-onset citrullinemia [RCV001277067]\|not provided [RCV001706600]	benign\|likely benign\|conflicting interpretations of pathogenicity	7	96121335	96121335	Human	3	name
11601011	CV312111	single nucleotide variant	NM_014251.3(SLC25A13):c.1671C>T (p.Thr557=)	Citrin deficiency [RCV000375423]\|Citrullinemia [RCV001277069]\|Citrullinemia type I [RCV000278580]\|Citrullinemia type II [RCV001095248]\|not provided [RCV001712762]\|not specified [RCV000729481]	benign\|likely benign\|conflicting interpretations of pathogenicity	7	96121918	96121918	Human	3	name
11599078	CV312113	single nucleotide variant	NM_014251.3(SLC25A13):c.1230A>C (p.Thr410=)	Citrin deficiency [RCV000262455]\|Citrullinemia [RCV001828358]\|Citrullinemia type I [RCV000358899]\|Citrullinemia type II [RCV001095143]\|not provided [RCV000730605]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	96171472	96171472	Human	3	name
405184791	CV3124210	single nucleotide variant	NM_014251.3(SLC25A13):c.1797T>G (p.Thr599=)	Citrin deficiency [RCV003820409]	likely benign	7	96121699	96121699	Human	1	name
405118063	CV3130973	single nucleotide variant	NM_014251.3(SLC25A13):c.1668A>G (p.Gln556=)	Citrin deficiency [RCV003837029]	likely benign	7	96121921	96121921	Human	1	name
405118382	CV3131063	single nucleotide variant	NM_014251.3(SLC25A13):c.1938A>G (p.Thr646=)	Citrin deficiency [RCV003837119]	likely benign	7	96121281	96121281	Human	1	name
405182610	CV3159560	deletion	NM_014251.3(SLC25A13):c.550del (p.Arg184fs)	Citrin deficiency [RCV003858810]	pathogenic	7	96193102	96193102	Human	1	name
405248961	CV3180135	single nucleotide variant	NM_014251.3(SLC25A13):c.1248G>A (p.Arg416=)	Citrin deficiency [RCV003869595]	likely benign	7	96170108	96170108	Human	1	name
402505623	CV3181578	single nucleotide variant	NM_014251.3(SLC25A13):c.1572C>T (p.Leu524=)	Citrin deficiency [RCV003878412]	likely benign	7	96131762	96131762	Human	1	name
405258676	CV3203930	single nucleotide variant	NM_014251.3(SLC25A13):c.1083A>C (p.Ser361=)	SLC25A13-related disorder [RCV003942087]	likely benign	7	96184371	96184371	Human		name , trait , alternate_id
405767582	CV3325424	single nucleotide variant	NM_014251.3(SLC25A13):c.250G>T (p.Val84Phe)	Inborn genetic diseases [RCV004456406]	uncertain significance	7	96234880	96234880	Human	1	name
12845471	CV369321	single nucleotide variant	NM_014251.3(SLC25A13):c.1236C>T (p.Asn412=)	Citrin deficiency [RCV001083693]\|SLC25A13-related disorder [RCV003897892]\|not provided [RCV000730403]\|not specified [RCV000439875]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	96170120	96170120	Human	2	name , trait , alternate_id
12835958	CV370032	single nucleotide variant	NM_014251.3(SLC25A13):c.1371A>G (p.Gln457=)	not specified [RCV000422579]	likely benign	7	96146637	96146637	Human		name
597723626	CV3729085	deletion	NM_014251.3(SLC25A13):c.762del (p.Phe254fs)	Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005035949]	likely pathogenic	7	96189667	96189667	Human	2	name
597954543	CV3754070	single nucleotide variant	NM_014251.3(SLC25A13):c.1638G>C (p.Thr546=)	Citrin deficiency [RCV005080113]	likely benign	7	96121951	96121951	Human	1	name
597943482	CV3765820	single nucleotide variant	NM_014251.3(SLC25A13):c.1657C>A (p.Arg553=)	Citrin deficiency [RCV005119198]	likely benign	7	96121932	96121932	Human	1	name
597922903	CV3777807	single nucleotide variant	NM_014251.3(SLC25A13):c.1773C>T (p.Pro591=)	Citrin deficiency [RCV005130531]	likely benign	7	96121723	96121723	Human	1	name
597957595	CV3800465	single nucleotide variant	NM_014251.3(SLC25A13):c.1182G>A (p.Leu394=)	Citrin deficiency [RCV005137557]	likely benign	7	96171520	96171520	Human	1	name
597944960	CV3812855	single nucleotide variant	NM_014251.3(SLC25A13):c.1425G>T (p.Arg475=)	Citrin deficiency [RCV005159868]	likely benign	7	96146583	96146583	Human	1	name
597887720	CV3839099	single nucleotide variant	NM_014251.3(SLC25A13):c.172G>A (p.Val58Met)	Citrin deficiency [RCV005179184]	uncertain significance	7	96277236	96277236	Human	1	name
13521969	CV489056	single nucleotide variant	NM_014251.3(SLC25A13):c.1548G>A (p.Gly516=)	Citrin deficiency [RCV002062011]\|not provided [RCV000591136]	likely benign\|uncertain significance	7	96131786	96131786	Human	1	name
13519024	CV490183	single nucleotide variant	NM_014251.3(SLC25A13):c.1638G>A (p.Thr546=)	Citrin deficiency [RCV001453818]\|not provided [RCV000597733]	likely benign\|uncertain significance	7	96121951	96121951	Human	1	name
13516274	CV491685	single nucleotide variant	NM_014251.3(SLC25A13):c.1824C>T (p.Tyr608=)	Citrin deficiency [RCV002062066]\|not provided [RCV000595318]	likely benign\|uncertain significance	7	96121672	96121672	Human	1	name
13517545	CV493362	single nucleotide variant	NM_014251.3(SLC25A13):c.1665C>T (p.Gly555=)	Citrin deficiency [RCV001084535]\|SLC25A13-related disorder [RCV003900352]\|not provided [RCV000596582]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	96121924	96121924	Human	2	name , trait , alternate_id
13815444	CV567289	single nucleotide variant	NM_014251.3(SLC25A13):c.158C>T (p.Pro53Leu)	Citrin deficiency [RCV000705713]\|Inborn genetic diseases [RCV004026700]\|Late-onset citrullinemia [RCV001272333]\|not provided [RCV000730178]	uncertain significance	7	96277250	96277250	Human	3	name
13833820	CV585060	single nucleotide variant	NM_014251.3(SLC25A13):c.193G>A (p.Val65Met)	Inborn genetic diseases [RCV002536424]\|not provided [RCV000729188]	uncertain significance	7	96277215	96277215	Human	1	name
13833895	CV585135	single nucleotide variant	NM_014251.3(SLC25A13):c.1695C>T (p.Cys565=)	Citrin deficiency [RCV002067092]\|SLC25A13-related disorder [RCV004742609]\|not provided [RCV000729283]	likely benign\|uncertain significance	7	96121894	96121894	Human	2	name , trait , alternate_id
13833931	CV585171	single nucleotide variant	NM_014251.3(SLC25A13):c.1710G>T (p.Leu570=)	not provided [RCV000729323]	uncertain significance	7	96121879	96121879	Human		name
13835051	CV586305	single nucleotide variant	NM_014251.3(SLC25A13):c.1800C>T (p.Tyr600=)	Citrin deficiency [RCV002060996]\|not provided [RCV000730744]	likely benign\|uncertain significance	7	96121696	96121696	Human	1	name
13836356	CV587629	single nucleotide variant	NM_014251.3(SLC25A13):c.185G>A (p.Ser62Asn)	Citrin deficiency [RCV002536480]\|Citrullinemia, type II, adult-onset [RCV001578817]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV001578818]\|not provided [RCV000732446]	uncertain significance	7	96277223	96277223	Human	3	name
15140196	CV687143	single nucleotide variant	NM_014251.3(SLC25A13):c.1374G>A (p.Val458=)	Citrin deficiency [RCV000865135]\|Citrullinemia type II [RCV001165296]\|Late-onset citrullinemia [RCV001277070]\|not provided [RCV001672969]	benign	7	96146634	96146634	Human	2	name
15137682	CV736362	single nucleotide variant	NM_014251.3(SLC25A13):c.1411C>T (p.Leu471=)	Citrin deficiency [RCV001439925]	likely benign	7	96146597	96146597	Human	1	name
15137629	CV736363	single nucleotide variant	NM_014251.3(SLC25A13):c.1170G>T (p.Leu390=)	Citrin deficiency [RCV000898838]\|Late-onset citrullinemia [RCV001272330]\|not provided [RCV005243406]	likely benign	7	96184284	96184284	Human	2	name
15148596	CV766489	single nucleotide variant	NM_014251.3(SLC25A13):c.1344T>C (p.Pro448=)	Citrin deficiency [RCV001471585]\|Late-onset citrullinemia [RCV001277322]\|SLC25A13-related disorder [RCV003978133]	likely benign\|uncertain significance	7	96146664	96146664	Human	3	name , trait , alternate_id
15134177	CV766490	single nucleotide variant	NM_014251.3(SLC25A13):c.1278C>T (p.Val426=)	Citrin deficiency [RCV001473790]	likely benign	7	96170078	96170078	Human	1	name
15126799	CV782964	single nucleotide variant	NM_014251.3(SLC25A13):c.1254A>G (p.Lys418=)	Citrin deficiency [RCV002550556]	likely benign	7	96170102	96170102	Human	1	name
21404223	CV801660	deletion	NM_014251.3(SLC25A13):c.699del (p.Arg234fs)	Neonatal intrahepatic cholestasis due to citrin deficiency [RCV001004530]	likely pathogenic	7	96191164	96191164	Human	1	name
26913545	CV834002	deletion	NM_014251.3(SLC25A13):c.571del (p.Arg191fs)	Citrin deficiency [RCV001040084]\|Citrullinemia, type II, adult-onset [RCV003467721]	pathogenic\|likely pathogenic	7	96193081	96193081	Human	2	name
26912588	CV834003	single nucleotide variant	NM_014251.3(SLC25A13):c.135G>C (p.Leu45Phe)	Citrin deficiency [RCV001053667]\|Citrullinemia [RCV001832490]\|Citrullinemia, type II, adult-onset [RCV003467771]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV002508285]\|not specified [RCV005418972]	pathogenic\|likely pathogenic\|uncertain significance	7	96277273	96277273	Human	4	name
8632716	CV87931	single nucleotide variant	NM_014251.3(SLC25A13):c.1353C>T (p.Ile451=)	Citrin deficiency [RCV001484278]	likely benign\|not provided	7	96146655	96146655	Human	1	name
28874292	CV898564	single nucleotide variant	NM_014251.3(SLC25A13):c.1419C>T (p.Val473=)	Citrin deficiency [RCV001474203]\|Citrullinemia type II [RCV001165295]	likely benign\|uncertain significance	7	96146589	96146589	Human	1	name
126770527	CV1007710	deletion	NM_014251.3(SLC25A13):c.1833del (p.Phe611fs)	Citrin deficiency [RCV001322624]	uncertain significance	7	96121663	96121663	Human	1	name
126921345	CV1045202	single nucleotide variant	NM_014251.3(SLC25A13):c.809A>G (p.Asp270Gly)	Citrin deficiency [RCV001374340]\|Citrullinemia [RCV001831332]	uncertain significance	7	96189620	96189620	Human	2	name
127268227	CV1061177	single nucleotide variant	NM_014251.3(SLC25A13):c.475C>T (p.Gln159Ter)	Citrin deficiency [RCV001382118]\|not provided [RCV004720889]	pathogenic	7	96193177	96193177	Human	1	name
151729310	CV1335344	single nucleotide variant	NM_014251.3(SLC25A13):c.535A>G (p.Thr179Ala)	not specified [RCV001844662]	uncertain significance	7	96193117	96193117	Human		name
151852727	CV1349111	single nucleotide variant	NM_014251.3(SLC25A13):c.517G>T (p.Ala173Ser)	Citrin deficiency [RCV001923012]	uncertain significance	7	96193135	96193135	Human	1	name
151782933	CV1383569	duplication	NM_014251.3(SLC25A13):c.1228dup (p.Thr410fs)	Citrin deficiency [RCV001865130]	pathogenic	7	96171473	96171474	Human	1	name
151818078	CV1385685	single nucleotide variant	NM_014251.3(SLC25A13):c.308G>A (p.Gly103Asp)	Citrin deficiency [RCV002013098]	uncertain significance	7	96234822	96234822	Human	1	name
151719180	CV1397522	single nucleotide variant	NM_014251.3(SLC25A13):c.595G>A (p.Val199Ile)	Citrin deficiency [RCV001982791]	uncertain significance	7	96193057	96193057	Human	1	name
151860592	CV1400261	single nucleotide variant	NM_014251.3(SLC25A13):c.710A>G (p.Tyr237Cys)	Citrin deficiency [RCV001997085]	uncertain significance	7	96191153	96191153	Human	1	name
151821667	CV1418564	single nucleotide variant	NM_014251.3(SLC25A13):c.551G>A (p.Arg184Gln)	Citrin deficiency [RCV001954818]\|SLC25A13-related disorder [RCV003968641]	uncertain significance	7	96193101	96193101	Human	2	name , trait , alternate_id
151835363	CV1436191	single nucleotide variant	NM_014251.3(SLC25A13):c.970C>T (p.Gln324Ter)	Citrin deficiency [RCV002014726]\|Citrullinemia, type II, adult-onset [RCV003471113]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005031985]	pathogenic\|likely pathogenic	7	96184975	96184975	Human	3	name
151757256	CV1438677	deletion	NM_014251.3(SLC25A13):c.1095del (p.Phe365fs)	Citrin deficiency [RCV002007457]\|Citrullinemia type II [RCV003331247]\|Citrullinemia, type II, adult-onset [RCV003475207]	pathogenic	7	96184359	96184359	Human	2	name
151757262	CV1438680	single nucleotide variant	NM_014251.3(SLC25A13):c.754G>A (p.Glu252Lys)	Citrin deficiency [RCV002007458]\|Citrullinemia type II [RCV003388066]\|Citrullinemia, type II, adult-onset [RCV003471124]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV002479573]	pathogenic\|likely pathogenic	7	96191109	96191109	Human	3	name
151871808	CV1451463	single nucleotide variant	NM_014251.3(SLC25A13):c.457C>T (p.Gln153Ter)	Citrin deficiency [RCV001960532]	pathogenic	7	96208849	96208849	Human	1	name
151764643	CV1490948	single nucleotide variant	NM_014251.3(SLC25A13):c.640C>T (p.Gln214Ter)	Citrin deficiency [RCV001949548]	pathogenic	7	96191223	96191223	Human	1	name
151864933	CV1509622	single nucleotide variant	NM_014251.3(SLC25A13):c.688A>G (p.Met230Val)	Citrin deficiency [RCV001924482]	uncertain significance	7	96191175	96191175	Human	1	name
156391384	CV1879573	single nucleotide variant	NM_014251.3(SLC25A13):c.580G>A (p.Val194Ile)	Citrin deficiency [RCV003068066]	uncertain significance	7	96193072	96193072	Human	1	name
156309067	CV1912831	single nucleotide variant	NM_014251.3(SLC25A13):c.850C>T (p.Arg284Cys)	Citrin deficiency [RCV002599547]\|Inborn genetic diseases [RCV003161916]\|SLC25A13-related disorder [RCV004744596]	uncertain significance	7	96189377	96189377	Human	3	name , trait , alternate_id
156208409	CV1932223	single nucleotide variant	NM_014251.3(SLC25A13):c.990C>A (p.Tyr330Ter)	Citrin deficiency [RCV002643901]\|Citrullinemia, type II, adult-onset [RCV003465985]	pathogenic\|likely pathogenic	7	96184955	96184955	Human	2	name
156349441	CV1978161	single nucleotide variant	NM_014251.3(SLC25A13):c.416G>A (p.Gly139Glu)	Citrin deficiency [RCV002601717]	uncertain significance	7	96208890	96208890	Human	1	name
155937850	CV2075093	single nucleotide variant	NM_014251.3(SLC25A13):c.979G>T (p.Glu327Ter)	Citrin deficiency [RCV002861572]	pathogenic	7	96184966	96184966	Human	1	name
8559053	CV21043	single nucleotide variant	NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter)	Citrin deficiency [RCV001247797]\|Citrullinemia [RCV001826423]\|Citrullinemia type II [RCV000006372]\|Citrullinemia, type II, adult-onset [RCV003472982]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV001004531]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005031398]	pathogenic	7	96191189	96191189	Human	4	name
156020922	CV2174185	single nucleotide variant	NM_014251.3(SLC25A13):c.977C>T (p.Ala326Val)	Citrin deficiency [RCV003035726]	uncertain significance	7	96184968	96184968	Human	1	name
156337542	CV2224819	single nucleotide variant	NM_014251.3(SLC25A13):c.693A>T (p.Glu231Asp)	Inborn genetic diseases [RCV002718729]	uncertain significance	7	96191170	96191170	Human	1	name
156117279	CV2231846	single nucleotide variant	NM_014251.3(SLC25A13):c.530G>A (p.Arg177Lys)	Inborn genetic diseases [RCV002762063]	likely benign	7	96193122	96193122	Human	1	name
156090769	CV2256532	single nucleotide variant	NM_014251.3(SLC25A13):c.446C>T (p.Ala149Val)	Inborn genetic diseases [RCV002798493]	uncertain significance	7	96208860	96208860	Human	1	name
156232391	CV2273699	single nucleotide variant	NM_014251.3(SLC25A13):c.830A>G (p.Asp277Gly)	Inborn genetic diseases [RCV002853722]	uncertain significance	7	96189599	96189599	Human	1	name
243060610	CV2408610	single nucleotide variant	NM_014251.3(SLC25A13):c.544G>A (p.Asp182Asn)	not provided [RCV003136739]	uncertain significance	7	96193108	96193108	Human		name
243058539	CV2413041	duplication	NM_014251.3(SLC25A13):c.1615dup (p.Thr539fs)	Citrullinemia, type II, adult-onset [RCV003466020]\|not provided [RCV003134042]	likely pathogenic	7	96121973	96121974	Human	1	name
243058555	CV2413045	duplication	NM_014251.3(SLC25A13):c.1208dup (p.Glu404fs)	not provided [RCV003134046]	likely pathogenic	7	96171493	96171494	Human		name
11531202	CV247324	single nucleotide variant	NM_014251.3(SLC25A13):c.775C>T (p.Gln259Ter)	Citrin deficiency [RCV001854929]\|Citrullinemia, type II, adult-onset [RCV004567798]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV000239387]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005031829]	pathogenic	7	96189654	96189654	Human	3	name
401797167	CV2741998	single nucleotide variant	NM_014251.3(SLC25A13):c.674C>T (p.Ser225Leu)	Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005399328]\|not specified [RCV003324174]	uncertain significance	7	96191189	96191189	Human	2	name
401899830	CV2758898	single nucleotide variant	NM_014251.3(SLC25A13):c.488C>A (p.Ala163Glu)	Inborn genetic diseases [RCV003378153]	uncertain significance	7	96193164	96193164	Human	1	name
401934904	CV2800674	single nucleotide variant	NM_014251.3(SLC25A13):c.848G>C (p.Gly283Ala)	SLC25A13-related disorder [RCV003412341]	uncertain significance	7	96189581	96189581	Human		name , trait , alternate_id
401949012	CV2838528	single nucleotide variant	NM_014251.3(SLC25A13):c.505C>T (p.Gln169Ter)	Citrullinemia, type II, adult-onset [RCV003472801]	likely pathogenic	7	96193147	96193147	Human	1	name
401947635	CV2838530	single nucleotide variant	NM_014251.3(SLC25A13):c.869T>C (p.Ile290Thr)	Citrullinemia, type II, adult-onset [RCV003466384]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005047616]	likely pathogenic	7	96189358	96189358	Human	2	name
401947639	CV2838532	deletion	NM_014251.3(SLC25A13):c.1637del (p.Thr546fs)	Citrullinemia, type II, adult-onset [RCV003466386]	likely pathogenic	7	96121952	96121952	Human	1	name
401949016	CV2838547	duplication	NM_014251.3(SLC25A13):c.1824dup (p.Ile609fs)	Citrullinemia, type II, adult-onset [RCV003472805]	likely pathogenic	7	96121671	96121672	Human	1	name
401949018	CV2838549	single nucleotide variant	NM_014251.3(SLC25A13):c.925C>T (p.Gln309Ter)	Citrullinemia, type II, adult-onset [RCV003472807]	likely pathogenic	7	96189302	96189302	Human	1	name
401949019	CV2838550	deletion	NM_014251.3(SLC25A13):c.1498del (p.Tyr500fs)	Citrullinemia, type II, adult-onset [RCV003472808]	likely pathogenic	7	96131836	96131836	Human	1	name
405075821	CV2904965	deletion	NM_014251.3(SLC25A13):c.1193del (p.Leu398fs)	Citrin deficiency [RCV003581440]	pathogenic	7	96171509	96171509	Human	1	name
405081341	CV2933646	deletion	NM_014251.3(SLC25A13):c.1258del (p.Met420fs)	Citrin deficiency [RCV003582070]	pathogenic	7	96170098	96170098	Human	1	name
405067512	CV3004480	deletion	NM_014251.3(SLC25A13):c.1164del (p.Phe388fs)	Citrin deficiency [RCV003742098]	pathogenic	7	96184290	96184290	Human	1	name
11582348	CV303699	single nucleotide variant	NM_014251.3(SLC25A13):c.421G>A (p.Glu141Lys)	Citrin deficiency [RCV002523606]\|Citrullinemia type I [RCV000259312]\|Citrullinemia type II [RCV000316803]	uncertain significance	7	96208885	96208885	Human	2	name
405053917	CV3062523	single nucleotide variant	NM_014251.3(SLC25A13):c.919G>T (p.Glu307Ter)	Citrin deficiency [RCV003740882]	pathogenic	7	96189308	96189308	Human	1	name
405282075	CV3224743	single nucleotide variant	NM_014251.3(SLC25A13):c.655T>C (p.Tyr219His)	Citrullinemia, type II, adult-onset [RCV003989080]	uncertain significance	7	96191208	96191208	Human	1	name
405767588	CV3325425	single nucleotide variant	NM_014251.3(SLC25A13):c.777G>C (p.Gln259His)	Inborn genetic diseases [RCV004456407]	uncertain significance	7	96189652	96189652	Human	1	name
8566964	CV34367	single nucleotide variant	NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter)	Citrin deficiency [RCV000815004]\|Citrullinemia [RCV001831590]\|Citrullinemia, type II, adult-onset [RCV003466867]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV000020705]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV002496428]\|not provided [RCV001546734]	pathogenic\|not provided	7	96193102	96193102	Human	4	name
408372399	CV3510285	single nucleotide variant	NM_014251.3(SLC25A13):c.572G>A (p.Arg191His)	SLC25A13-related disorder [RCV004743037]	uncertain significance	7	96193080	96193080	Human		name , trait , alternate_id
408372011	CV3517740	deletion	NM_014251.3(SLC25A13):c.1140del (p.Val381fs)	SLC25A13-related disorder [RCV004742149]	likely pathogenic	7	96184314	96184314	Human		name , trait , alternate_id
408372013	CV3517745	single nucleotide variant	NM_014251.3(SLC25A13):c.559A>G (p.Met187Val)	SLC25A13-related disorder [RCV004742151]	uncertain significance	7	96193093	96193093	Human		name , trait , alternate_id
12742087	CV359822	single nucleotide variant	NM_014251.3(SLC25A13):c.955C>T (p.Arg319Ter)	Citrin deficiency [RCV000556924]\|Citrullinemia [RCV001828382]\|not provided [RCV000412829]	pathogenic	7	96184990	96184990	Human	2	name
597723615	CV3729083	single nucleotide variant	NM_014251.3(SLC25A13):c.931C>T (p.Gln311Ter)	Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005035948]	likely pathogenic	7	96189296	96189296	Human	2	name
597886418	CV3800093	single nucleotide variant	NM_014251.3(SLC25A13):c.787C>T (p.Gln263Ter)	Citrin deficiency [RCV005150572]	pathogenic	7	96189642	96189642	Human	1	name
598168403	CV3918133	single nucleotide variant	NM_014251.3(SLC25A13):c.541A>G (p.Ile181Val)	Inborn genetic diseases [RCV005284088]	uncertain significance	7	96193111	96193111	Human	1	name
598168415	CV3918136	single nucleotide variant	NM_014251.3(SLC25A13):c.350G>A (p.Gly117Glu)	Inborn genetic diseases [RCV005284091]	uncertain significance	7	96208956	96208956	Human	1	name
13466666	CV458113	deletion	NM_014251.3(SLC25A13):c.1712del (p.Arg571fs)	Citrin deficiency [RCV000543573]	pathogenic	7	96121877	96121877	Human	1	name
13522144	CV489556	single nucleotide variant	NM_014251.3(SLC25A13):c.800T>C (p.Met267Thr)	not provided [RCV000591360]	uncertain significance	7	96189629	96189629	Human		name
13518157	CV490820	single nucleotide variant	NM_014251.3(SLC25A13):c.817T>C (p.Phe273Leu)	not provided [RCV000597078]	uncertain significance	7	96189612	96189612	Human		name
13516475	CV491531	single nucleotide variant	NM_014251.3(SLC25A13):c.884C>T (p.Pro295Leu)	not provided [RCV000595570]	uncertain significance	7	96189343	96189343	Human		name
13518241	CV493370	single nucleotide variant	NM_014251.3(SLC25A13):c.571C>T (p.Arg191Cys)	Citrullinemia type II [RCV001161792]\|not provided [RCV000597163]	uncertain significance	7	96193081	96193081	Human	1	name
13818002	CV562318	single nucleotide variant	NM_014251.3(SLC25A13):c.614C>T (p.Ala205Val)	Citrin deficiency [RCV000707394]	uncertain significance	7	96193038	96193038	Human	1	name
13828829	CV581761	single nucleotide variant	NM_014251.3(SLC25A13):c.493C>T (p.Gln165Ter)	Citrin deficiency [RCV003581706]\|Citrullinemia, type II, adult-onset [RCV004569412]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV000721964]	pathogenic	7	96193159	96193159	Human	3	name
13833284	CV584514	single nucleotide variant	NM_014251.3(SLC25A13):c.358A>G (p.Thr120Ala)	not provided [RCV000728485]	uncertain significance	7	96208948	96208948	Human		name
13833717	CV584955	deletion	NM_014251.3(SLC25A13):c.1631del (p.Ile544fs)	not provided [RCV000729060]	pathogenic	7	96121958	96121958	Human		name
13834746	CV585995	single nucleotide variant	NM_014251.3(SLC25A13):c.874C>T (p.Arg292Trp)	Citrin deficiency [RCV001244437]\|Citrullinemia [RCV001830607]\|not provided [RCV000730338]	uncertain significance	7	96189353	96189353	Human	2	name
13835213	CV586470	single nucleotide variant	NM_014251.3(SLC25A13):c.988T>C (p.Tyr330His)	Inborn genetic diseases [RCV002535180]\|not provided [RCV000730942]	uncertain significance	7	96184957	96184957	Human	1	name
13835216	CV586473	single nucleotide variant	NM_014251.3(SLC25A13):c.790G>A (p.Val264Ile)	Citrin deficiency [RCV001497957]\|Citrullinemia type II [RCV001158571]\|SLC25A13-related disorder [RCV004742616]\|not provided [RCV000730946]\|not specified [RCV002233738]	likely benign\|uncertain significance	7	96189639	96189639	Human	2	name , trait , alternate_id
13836671	CV587949	single nucleotide variant	NM_014251.3(SLC25A13):c.487G>A (p.Ala163Thr)	not provided [RCV000732860]	uncertain significance	7	96193165	96193165	Human		name
13836756	CV588036	single nucleotide variant	NM_014251.3(SLC25A13):c.454A>G (p.Thr152Ala)	Citrin deficiency [RCV001244769]\|Citrullinemia [RCV001825477]\|not provided [RCV000732959]	uncertain significance	7	96208852	96208852	Human	2	name
13836858	CV588141	single nucleotide variant	NM_014251.3(SLC25A13):c.851G>A (p.Arg284His)	not provided [RCV000733095]	uncertain significance	7	96189376	96189376	Human		name
13837075	CV588360	single nucleotide variant	NM_014251.3(SLC25A13):c.916G>A (p.Ala306Thr)	Citrin deficiency [RCV001868986]\|not provided [RCV000733364]	uncertain significance	7	96189311	96189311	Human	1	name
13837471	CV588761	single nucleotide variant	NM_014251.3(SLC25A13):c.635C>T (p.Ser212Phe)	Citrullinemia type II [RCV001161790]\|not provided [RCV000733897]	uncertain significance	7	96191228	96191228	Human	1	name
13838130	CV589425	single nucleotide variant	NM_014251.3(SLC25A13):c.875G>A (p.Arg292Gln)	Inborn genetic diseases [RCV002535391]\|not provided [RCV000734738]	uncertain significance	7	96189352	96189352	Human	1	name
14693814	CV620281	deletion	NM_014251.3(SLC25A13):c.1916del (p.Gly639fs)	Citrullinemia type II [RCV000779546]	uncertain significance	7	96121303	96121303	Human		name
14702997	CV636493	deletion	NM_014251.3(SLC25A13):c.1375del (p.Ala459fs)	Citrin deficiency [RCV000791562]	pathogenic	7	96146633	96146633	Human	1	name
14741601	CV636495	single nucleotide variant	NM_014251.3(SLC25A13):c.848G>A (p.Gly283Glu)	Citrin deficiency [RCV000822312]\|Citrullinemia [RCV001825664]	uncertain significance	7	96189581	96189581	Human	2	name
21404222	CV801659	deletion	NM_014251.3(SLC25A13):c.1121del (p.Ser374fs)	Neonatal intrahepatic cholestasis due to citrin deficiency [RCV001004529]	likely pathogenic	7	96184333	96184333	Human	1	name
8626481	CV81625	single nucleotide variant	NM_014251.2(SLC25A13):c.425G>A (p.Arg142Lys)	Malignant melanoma [RCV000061703]	not provided	7	96208881	96208881	Human		name
26922597	CV834001	single nucleotide variant	NM_014251.3(SLC25A13):c.922G>A (p.Ala308Thr)	Citrin deficiency [RCV001062379]\|Citrullinemia [RCV001827396]	uncertain significance	7	96189305	96189305	Human	2	name
28867280	CV898565	single nucleotide variant	NM_014251.3(SLC25A13):c.701G>C (p.Arg234Thr)	Citrullinemia type II [RCV001161788]	uncertain significance	7	96191162	96191162	Human	1	name
28867287	CV898567	single nucleotide variant	NM_014251.3(SLC25A13):c.508C>T (p.Arg170Trp)	Citrullinemia type II [RCV001161793]	uncertain significance	7	96193144	96193144	Human	1	name
38468173	CV934050	single nucleotide variant	NM_014251.3(SLC25A13):c.415G>A (p.Gly139Arg)	Citrin deficiency [RCV001202155]\|Citrullinemia [RCV001833772]	pathogenic\|likely pathogenic\|uncertain significance	7	96208891	96208891	Human	2	name
38481555	CV945807	single nucleotide variant	NM_014251.3(SLC25A13):c.332A>G (p.Asp111Gly)	Citrin deficiency [RCV001235171]\|Citrullinemia [RCV001834041]	uncertain significance	7	96208974	96208974	Human	2	name
40906058	CV978408	single nucleotide variant	NM_014251.3(SLC25A13):c.353A>C (p.Gln118Pro)	Late-onset citrullinemia [RCV001279375]	uncertain significance	7	96208953	96208953	Human	1	name
126764382	CV1028254	single nucleotide variant	NM_014251.3(SLC25A13):c.1547G>A (p.Gly516Glu)	Citrin deficiency [RCV001341638]\|Citrullinemia [RCV001825871]	uncertain significance	7	96131787	96131787	Human	2	name
126725757	CV1028255	single nucleotide variant	NM_014251.3(SLC25A13):c.1151A>T (p.Tyr384Phe)	Citrin deficiency [RCV001348248]	uncertain significance	7	96184303	96184303	Human	1	name
126921693	CV1045201	single nucleotide variant	NM_014251.3(SLC25A13):c.1495A>G (p.Ile499Val)	Citrin deficiency [RCV001363787]\|Citrullinemia [RCV001836366]	uncertain significance	7	96131839	96131839	Human	2	name
127264977	CV1061172	single nucleotide variant	NM_014251.3(SLC25A13):c.1677C>G (p.Tyr559Ter)	Citrin deficiency [RCV001388329]\|Citrullinemia, type II, adult-onset [RCV004570967]	pathogenic\|likely pathogenic	7	96121912	96121912	Human	2	name
127265300	CV1061173	single nucleotide variant	NM_014251.3(SLC25A13):c.1311C>A (p.Cys437Ter)	Citrin deficiency [RCV001381428]\|Citrullinemia, type II, adult-onset [RCV004570941]	pathogenic\|likely pathogenic	7	96170045	96170045	Human	2	name
127243871	CV1061174	duplication	NM_014251.3(SLC25A13):c.1173dup (p.Arg392Ter)	Citrin deficiency [RCV001384102]	pathogenic	7	96184280	96184281	Human	1	name
127267456	CV1061175	single nucleotide variant	NM_014251.3(SLC25A13):c.1063C>G (p.Arg355Gly)	Citrin deficiency [RCV001388981]\|Citrullinemia, type II, adult-onset [RCV003469750]	pathogenic	7	96184391	96184391	Human	2	name
127267682	CV1061182	insertion	NM_014251.3(SLC25A13):c.66_67insC (p.Lys23fs)	Citrin deficiency [RCV001381994]	pathogenic	7	96296900	96296901	Human	1	name
150414842	CV1197742	single nucleotide variant	NM_014251.3(SLC25A13):c.1157G>C (p.Gly386Ala)	Citrullinemia [RCV001832789]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV002495921]\|not provided [RCV001575138]	uncertain significance	7	96184297	96184297	Human	3	name
150546740	CV1313885	single nucleotide variant	NM_014251.3(SLC25A13):c.1173T>G (p.Tyr391Ter)	Citrin deficiency [RCV002544257]\|Citrullinemia, type II, adult-onset [RCV003475087]	pathogenic\|likely pathogenic	7	96184281	96184281	Human	2	name
151845761	CV1341861	single nucleotide variant	NM_014251.3(SLC25A13):c.1012G>C (p.Ala338Pro)	Citrin deficiency [RCV001922091]	uncertain significance	7	96184933	96184933	Human	1	name
151761434	CV1358219	single nucleotide variant	NM_014251.3(SLC25A13):c.1438T>C (p.Phe480Leu)	Citrin deficiency [RCV001928568]\|Inborn genetic diseases [RCV004043421]	uncertain significance	7	96146570	96146570	Human	2	name
151755528	CV1365536	single nucleotide variant	NM_014251.3(SLC25A13):c.1415C>T (p.Ser472Phe)	Citrin deficiency [RCV001872683]\|Inborn genetic diseases [RCV005278926]	uncertain significance	7	96146593	96146593	Human	2	name
151789406	CV1377192	single nucleotide variant	NM_014251.3(SLC25A13):c.1433G>A (p.Gly478Glu)	Citrin deficiency [RCV001898031]	uncertain significance	7	96146575	96146575	Human	1	name
151819051	CV1385804	single nucleotide variant	NM_014251.3(SLC25A13):c.1894C>T (p.Pro632Ser)	Citrin deficiency [RCV002013189]	uncertain significance	7	96121325	96121325	Human	1	name
151759503	CV1391919	single nucleotide variant	NM_014251.3(SLC25A13):c.1637C>G (p.Thr546Arg)	Citrin deficiency [RCV002044107]\|Citrullinemia, type II, adult-onset [RCV003470948]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV002503355]\|SLC25A13-related disorder [RCV003892887]\|not provided [RCV003107862]	pathogenic\|likely pathogenic\|uncertain significance	7	96121952	96121952	Human	3	name , trait , alternate_id
151889686	CV1398923	single nucleotide variant	NM_014251.3(SLC25A13):c.1079G>A (p.Arg360Gln)	Citrin deficiency [RCV001942858]	uncertain significance	7	96184375	96184375	Human	1	name
151858446	CV1406362	single nucleotide variant	NM_014251.3(SLC25A13):c.1075C>T (p.Gln359Ter)	Citrin deficiency [RCV001958904]\|SLC25A13-related disorder [RCV003401975]	pathogenic	7	96184379	96184379	Human	2	name , trait , alternate_id
151709243	CV1409153	single nucleotide variant	NM_014251.3(SLC25A13):c.1818G>T (p.Trp606Cys)	Citrin deficiency [RCV001907634]	uncertain significance	7	96121678	96121678	Human	1	name
151883223	CV1411873	single nucleotide variant	NM_014251.3(SLC25A13):c.1711C>T (p.Arg571Cys)	Citrin deficiency [RCV001962083]\|Inborn genetic diseases [RCV004953210]\|SLC25A13-related disorder [RCV003948784]	uncertain significance	7	96121878	96121878	Human	3	name , trait , alternate_id
151784329	CV1474587	single nucleotide variant	NM_014251.3(SLC25A13):c.1256T>G (p.Phe419Cys)	Citrin deficiency [RCV001930742]	uncertain significance	7	96170100	96170100	Human	1	name
151872277	CV1480636	single nucleotide variant	NM_014251.3(SLC25A13):c.1324C>T (p.Gln442Ter)	Citrin deficiency [RCV001906644]	pathogenic	7	96146684	96146684	Human	1	name
152117334	CV1633525	single nucleotide variant	NM_014251.3(SLC25A13):c.1903G>T (p.Asp635Tyr)	Citrin deficiency [RCV002117370]	likely benign	7	96121316	96121316	Human	1	name
153305661	CV1688715	single nucleotide variant	NM_014251.3(SLC25A13):c.1904A>G (p.Asp635Gly)	not specified [RCV002266454]	uncertain significance	7	96121315	96121315	Human		name
153305662	CV1688716	single nucleotide variant	NM_014251.3(SLC25A13):c.1210G>T (p.Glu404Ter)	Citrullinemia type II [RCV002266455]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005032207]	likely pathogenic	7	96171492	96171492	Human	3	name
155266042	CV1704926	single nucleotide variant	NM_014251.3(SLC25A13):c.1474C>T (p.Arg492Trp)	Neonatal intrahepatic cholestasis due to citrin deficiency [RCV002285225]	pathogenic	7	96131860	96131860	Human	1	name
156133321	CV1885685	single nucleotide variant	NM_014251.3(SLC25A13):c.1340A>G (p.Asn447Ser)	Citrin deficiency [RCV003081923]	uncertain significance	7	96146668	96146668	Human	1	name
155940114	CV1913600	single nucleotide variant	NM_014251.3(SLC25A13):c.1274C>T (p.Ser425Leu)	Citrin deficiency [RCV002615574]\|Inborn genetic diseases [RCV004673809]\|SLC25A13-related disorder [RCV003420363]	uncertain significance	7	96170082	96170082	Human	3	name , trait , alternate_id
156190695	CV1915879	single nucleotide variant	NM_014251.3(SLC25A13):c.1411C>G (p.Leu471Val)	Citrin deficiency [RCV002595363]	uncertain significance	7	96146597	96146597	Human	1	name
156413985	CV1919441	single nucleotide variant	NM_014251.3(SLC25A13):c.1084A>G (p.Thr362Ala)	Citrin deficiency [RCV002588340]	likely benign	7	96184370	96184370	Human	1	name
155952108	CV1922023	single nucleotide variant	NM_014251.3(SLC25A13):c.1420G>C (p.Val474Leu)	Citrin deficiency [RCV002616280]	uncertain significance	7	96146588	96146588	Human	1	name
156065660	CV1925906	single nucleotide variant	NM_014251.3(SLC25A13):c.2026T>C (p.Ter676Gln)	Citrin deficiency [RCV002621091]	uncertain significance	7	96121193	96121193	Human	1	name
156394488	CV1984410	single nucleotide variant	NM_014251.3(SLC25A13):c.1769C>A (p.Ser590Ter)	Citrin deficiency [RCV002635333]\|Citrullinemia, type II, adult-onset [RCV003475406]	pathogenic\|likely pathogenic	7	96121727	96121727	Human	2	name
10056300	CV200164	single nucleotide variant	NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala)	Citrin deficiency [RCV000381101]\|Citrullinemia type I [RCV000270533]\|Citrullinemia type II [RCV000764738]\|Citrullinemia type II [RCV001095246]\|Late-onset citrullinemia [RCV001277319]\|SLC25A13-related disorder [RCV003967465]\|not provided [RCV000726730]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	96121309	96121309	Human	4	name , trait , alternate_id
156169742	CV2016075	single nucleotide variant	NM_014251.3(SLC25A13):c.1307G>A (p.Gly436Asp)	Citrin deficiency [RCV002710448]	pathogenic	7	96170049	96170049	Human	1	name
156281050	CV2049964	single nucleotide variant	NM_014251.3(SLC25A13):c.1955A>G (p.Asn652Ser)	Citrin deficiency [RCV002806991]	uncertain significance	7	96121264	96121264	Human	1	name
156284637	CV2061614	single nucleotide variant	NM_014251.3(SLC25A13):c.1448A>G (p.Tyr483Cys)	Citrin deficiency [RCV002832961]	uncertain significance	7	96146560	96146560	Human	1	name
8559055	CV21045	duplication	NM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter)	CITRIN DEFICIENCY, NEONATAL ONSET [RCV005234781]\|Citrin deficiency [RCV001060497]\|Citrullinemia [RCV001831516]\|Citrullinemia type II [RCV000006374]\|Citrullinemia, type II, adult-onset [RCV003472984]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV000006375]\|Neonatal intrahepatic chole ... (more) stasis due to citrin deficiency [RCV005031399]\|SLC25A13-related disorder [RCV004742218]	pathogenic\|likely pathogenic	7	96121696	96121697	Human	4	name , trait , alternate_id
8559056	CV21046	single nucleotide variant	NM_014251.3(SLC25A13):c.1763G>A (p.Arg588Gln)	Citrin deficiency [RCV003581555]\|Citrullinemia [RCV001831517]\|Citrullinemia type II [RCV000006376]\|Inborn genetic diseases [RCV001267011]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV002508184]\|not provided [RCV000728351]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	7	96121733	96121733	Human	4	name
156297304	CV2119307	single nucleotide variant	NM_014251.3(SLC25A13):c.1895C>T (p.Pro632Leu)	Citrin deficiency [RCV002961979]	uncertain significance	7	96121324	96121324	Human	1	name
156013118	CV2121202	single nucleotide variant	NM_014251.3(SLC25A13):c.1712G>A (p.Arg571His)	Citrin deficiency [RCV002948385]\|Inborn genetic diseases [RCV003269342]	uncertain significance	7	96121877	96121877	Human	2	name
156392349	CV2123452	single nucleotide variant	NM_014251.3(SLC25A13):c.1424G>A (p.Arg475Gln)	Citrin deficiency [RCV002944036]\|SLC25A13-related disorder [RCV003403988]	uncertain significance	7	96146584	96146584	Human	2	name , trait , alternate_id
156097686	CV2206879	single nucleotide variant	NM_014251.3(SLC25A13):c.1219A>G (p.Ile407Val)	Inborn genetic diseases [RCV002661763]	uncertain significance	7	96171483	96171483	Human	1	name
156209324	CV2250204	single nucleotide variant	NM_014251.3(SLC25A13):c.1007C>G (p.Ser336Cys)	Inborn genetic diseases [RCV002803974]	uncertain significance	7	96184938	96184938	Human	1	name
155981461	CV2272855	single nucleotide variant	NM_014251.3(SLC25A13):c.1654G>A (p.Ala552Thr)	Inborn genetic diseases [RCV002818619]	uncertain significance	7	96121935	96121935	Human	1	name
243060609	CV2408609	single nucleotide variant	NM_014251.3(SLC25A13):c.1909G>A (p.Val637Ile)	Inborn genetic diseases [RCV005281363]\|not provided [RCV003136738]	uncertain significance	7	96121310	96121310	Human	1	name
329399883	CV2444328	single nucleotide variant	NM_014251.3(SLC25A13):c.1792C>A (p.Leu598Met)	Inborn genetic diseases [RCV003196923]	uncertain significance	7	96121704	96121704	Human	1	name
11531199	CV247321	single nucleotide variant	NM_014251.3(SLC25A13):c.1958A>G (p.Lys653Arg)	Neonatal intrahepatic cholestasis due to citrin deficiency [RCV000239382]	uncertain significance	7	96121261	96121261	Human	1	name
11531204	CV247322	single nucleotide variant	NM_014251.3(SLC25A13):c.1505C>T (p.Pro502Leu)	Citrin deficiency [RCV002057271]\|Citrullinemia type II [RCV001163201]\|Citrullinemia, type II, adult-onset [RCV003475850]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV000239389]\|SLC25A13-related disorder [RCV003909878]\|not provided [RCV000595565 ... (more) ]	pathogenic\|likely pathogenic\|likely benign\|uncertain significance	7	96131829	96131829	Human	4	name , trait , alternate_id
11641386	CV267047	single nucleotide variant	NM_014251.3(SLC25A13):c.1364G>A (p.Arg455His)	Inborn genetic diseases [RCV004021117]\|not provided [RCV000354470]	uncertain significance	7	96146644	96146644	Human	1	name
329955355	CV2671299	single nucleotide variant	NM_014251.3(SLC25A13):c.1359G>T (p.Lys453Asn)	not specified [RCV003236575]	uncertain significance	7	96146649	96146649	Human		name
401733951	CV2688360	single nucleotide variant	NM_014251.3(SLC25A13):c.1619C>G (p.Pro540Arg)	Inborn genetic diseases [RCV003290627]	uncertain significance	7	96121970	96121970	Human	1	name
11636603	CV271015	single nucleotide variant	NM_014251.3(SLC25A13):c.1631T>C (p.Ile544Thr)	Citrin deficiency [RCV002519259]\|Citrullinemia, type II, adult-onset [RCV003992261]\|Inborn genetic diseases [RCV003165748]\|not provided [RCV000271654]	uncertain significance	7	96121958	96121958	Human	3	name
401739248	CV2738513	single nucleotide variant	NM_014251.3(SLC25A13):c.1511A>G (p.Tyr504Cys)	not specified [RCV003317905]	uncertain significance	7	96131823	96131823	Human		name
401797169	CV2742000	single nucleotide variant	NM_014251.3(SLC25A13):c.1622C>A (p.Ala541Asp)	Citrin deficiency [RCV003581924]\|not specified [RCV003324176]	pathogenic\|uncertain significance	7	96121967	96121967	Human	1	name
401934053	CV2802712	single nucleotide variant	NM_014251.3(SLC25A13):c.1564A>T (p.Ser522Cys)	SLC25A13-related disorder [RCV003410912]	uncertain significance	7	96131770	96131770	Human		name , trait , alternate_id
401908860	CV2825883	single nucleotide variant	NM_014251.3(SLC25A13):c.1658G>C (p.Arg553Pro)	not provided [RCV003423651]	uncertain significance	7	96121931	96121931	Human		name
401914865	CV2830867	single nucleotide variant	NM_014251.3(SLC25A13):c.1201G>A (p.Val401Ile)	not provided [RCV003442606]	uncertain significance	7	96171501	96171501	Human		name
401949011	CV2838527	duplication	NM_014251.3(SLC25A13):c.1676dup (p.Tyr559Ter)	Citrin deficiency [RCV003581940]\|Citrullinemia, type II, adult-onset [RCV003472800]	pathogenic\|likely pathogenic	7	96121912	96121913	Human	2	name
401947643	CV2838534	single nucleotide variant	NM_014251.3(SLC25A13):c.1549C>T (p.Gln517Ter)	Citrullinemia, type II, adult-onset [RCV003466388]	likely pathogenic	7	96131785	96131785	Human	1	name
401947655	CV2838540	single nucleotide variant	NM_014251.3(SLC25A13):c.1800C>A (p.Tyr600Ter)	Citrin deficiency [RCV005100227]\|Citrullinemia, type II, adult-onset [RCV003466394]	pathogenic	7	96121696	96121696	Human	2	name
401947659	CV2838542	single nucleotide variant	NM_014251.3(SLC25A13):c.1736G>A (p.Trp579Ter)	Citrullinemia, type II, adult-onset [RCV003466396]	pathogenic	7	96121853	96121853	Human	1	name
401949017	CV2838548	single nucleotide variant	NM_014251.3(SLC25A13):c.1193T>A (p.Leu398Ter)	Citrullinemia, type II, adult-onset [RCV003472806]	pathogenic	7	96171509	96171509	Human	1	name
401949021	CV2838552	single nucleotide variant	NM_014251.3(SLC25A13):c.1069C>T (p.Gln357Ter)	Citrullinemia, type II, adult-onset [RCV003472810]	likely pathogenic	7	96184385	96184385	Human	1	name
401949027	CV2838558	single nucleotide variant	NM_014251.3(SLC25A13):c.1364G>T (p.Arg455Leu)	Citrullinemia, type II, adult-onset [RCV003472816]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005047617]\|not specified [RCV004690414]	likely pathogenic\|uncertain significance	7	96146644	96146644	Human	2	name
401964097	CV2843490	single nucleotide variant	NM_014251.3(SLC25A13):c.1465T>C (p.Cys489Arg)	not specified [RCV003479832]	uncertain significance	7	96131869	96131869	Human		name
405080439	CV2854184	single nucleotide variant	NM_014251.3(SLC25A13):c.1316G>A (p.Gly439Glu)	Citrin deficiency [RCV003581987]	likely pathogenic	7	96146692	96146692	Human	1	name
405074419	CV2890255	single nucleotide variant	NM_014251.3(SLC25A13):c.1400G>A (p.Arg467Gln)	Citrin deficiency [RCV003581350]	uncertain significance	7	96146608	96146608	Human	1	name
405062998	CV2965783	single nucleotide variant	NM_014251.3(SLC25A13):c.1677C>A (p.Tyr559Ter)	Citrin deficiency [RCV003741735]	pathogenic	7	96121912	96121912	Human	1	name
405066044	CV2999033	single nucleotide variant	NM_014251.3(SLC25A13):c.1643T>G (p.Leu548Ter)	Citrin deficiency [RCV003741988]	pathogenic	7	96121946	96121946	Human	1	name
11587130	CV303698	single nucleotide variant	NM_014251.3(SLC25A13):c.1088G>T (p.Gly363Val)	Citrin deficiency [RCV000292722]\|Citrullinemia type I [RCV000350029]\|Citrullinemia type II [RCV001095144]\|Inborn genetic diseases [RCV002519511]\|Late-onset citrullinemia [RCV001272331]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	96184366	96184366	Human	4	name
11600152	CV307115	single nucleotide variant	NM_014251.3(SLC25A13):c.1945G>C (p.Gly649Arg)	Citrin deficiency [RCV000328760]\|Citrullinemia type I [RCV000271327]\|Citrullinemia type II [RCV001095212]\|Inborn genetic diseases [RCV003168565]\|Late-onset citrullinemia [RCV001277318]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV004725186]\|SLC25A13 ... (more) span>-related disorder [RCV004742402]\|not provided [RCV000593765]	likely benign\|uncertain significance	7	96121274	96121274	Human	5	name , trait , alternate_id
11606817	CV307116	single nucleotide variant	NM_014251.3(SLC25A13):c.1393G>T (p.Gly465Cys)	Citrullinemia type I [RCV000404811]\|Citrullinemia type II [RCV000335940]\|Inborn genetic diseases [RCV004955467]	uncertain significance	7	96146615	96146615	Human	3	name
11654037	CV312061	single nucleotide variant	NM_014251.3(SLC25A13):c.1313C>T (p.Ala438Val)	Citrullinemia type I [RCV000348596]\|Citrullinemia type II [RCV000314735]	uncertain significance	7	96146695	96146695	Human	2	name
405263474	CV3189506	single nucleotide variant	NM_014251.3(SLC25A13):c.1544A>T (p.Asp515Val)	SLC25A13-related disorder [RCV003896740]	uncertain significance	7	96131790	96131790	Human		name , trait , alternate_id
405271278	CV3209384	single nucleotide variant	NM_014251.3(SLC25A13):c.1657C>T (p.Arg553Trp)	SLC25A13-related disorder [RCV003949716]	uncertain significance	7	96121932	96121932	Human		name , trait , alternate_id
405289585	CV3222020	single nucleotide variant	NM_014251.3(SLC25A13):c.1349A>G (p.Glu450Gly)	Neonatal intrahepatic cholestasis due to citrin deficiency [RCV003983775]	uncertain significance	7	96146659	96146659	Human	1	name
405767575	CV3325423	single nucleotide variant	NM_014251.3(SLC25A13):c.1948A>G (p.Ile650Val)	Inborn genetic diseases [RCV004456405]	uncertain significance	7	96121271	96121271	Human	1	name
405854313	CV3392972	single nucleotide variant	NM_014251.3(SLC25A13):c.1763G>T (p.Arg588Leu)	not specified [RCV004527129]	uncertain significance	7	96121733	96121733	Human		name
405869743	CV3399464	single nucleotide variant	NM_014251.3(SLC25A13):c.1817G>A (p.Trp606Ter)	Citrullinemia, type II, adult-onset [RCV004573609]	likely pathogenic	7	96121679	96121679	Human	1	name
8566957	CV34360	single nucleotide variant	NM_014251.3(SLC25A13):c.1078C>T (p.Arg360Ter)	Citrin deficiency [RCV001058684]\|Citrullinemia type II [RCV001262833]\|Citrullinemia, type II, adult-onset [RCV002259307]\|Late-onset citrullinemia [RCV001272101]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005031445]	pathogenic\|likely pathogenic\|not provided	7	96184376	96184376	Human	3	name
8566958	CV34361	single nucleotide variant	NM_014251.3(SLC25A13):c.1592G>A (p.Gly531Asp)	Citrin deficiency [RCV001378585]\|Citrullinemia [RCV001826486]\|Citrullinemia, type II, adult-onset [RCV003473112]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV000020699]	pathogenic\|likely pathogenic\|not provided	7	96121997	96121997	Human	4	name
8566961	CV34364	single nucleotide variant	NM_014251.3(SLC25A13):c.1801G>A (p.Glu601Lys)	Citrin deficiency [RCV001067856]\|Citrullinemia, type II, adult-onset [RCV004566752]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV000020702]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005031446]\|not specified [RCV004689425]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	7	96121695	96121695	Human	3	name
8566962	CV34365	single nucleotide variant	NM_014251.3(SLC25A13):c.1801G>T (p.Glu601Ter)	Citrin deficiency [RCV001217432]\|Citrullinemia, type II, adult-onset [RCV003473114]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV000020703]	pathogenic\|not provided	7	96121695	96121695	Human	3	name
8566963	CV34366	single nucleotide variant	NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter)	Citrin deficiency [RCV002513147]\|Citrullinemia type II [RCV003230369]\|Citrullinemia, type II, adult-onset [RCV003473115]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV000020704]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV002496427]\|not provided [RCV000254826]	pathogenic\|likely pathogenic\|not provided	7	96121683	96121683	Human	3	name
407477763	CV3495155	single nucleotide variant	NM_014251.3(SLC25A13):c.1793T>G (p.Leu598Arg)	Citrullinemia type II [RCV004691058]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005040751]	pathogenic	7	96121703	96121703	Human	3	name
408382242	CV3504351	single nucleotide variant	NM_014251.3(SLC25A13):c.1733T>C (p.Leu578Pro)	SLC25A13-related disorder [RCV004729709]	uncertain significance	7	96121856	96121856	Human		name , trait , alternate_id
408372894	CV3513256	single nucleotide variant	NM_014251.3(SLC25A13):c.1568T>C (p.Leu523Pro)	SLC25A13-related disorder [RCV004744017]	uncertain significance	7	96131766	96131766	Human		name , trait , alternate_id
597639561	CV3606259	single nucleotide variant	NM_014251.3(SLC25A13):c.1730C>T (p.Ala577Val)	Inborn genetic diseases [RCV004971248]	uncertain significance	7	96121859	96121859	Human	1	name
597709799	CV3606260	single nucleotide variant	NM_014251.3(SLC25A13):c.1913G>C (p.Gly638Ala)	Inborn genetic diseases [RCV004957906]	uncertain significance	7	96121306	96121306	Human	1	name
597723603	CV3729081	single nucleotide variant	NM_014251.3(SLC25A13):c.1113T>G (p.Tyr371Ter)	Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005035947]	likely pathogenic	7	96184341	96184341	Human	2	name
597705175	CV3729082	single nucleotide variant	NM_014251.3(SLC25A13):c.1046T>C (p.Ile349Thr)	Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005048109]	likely pathogenic	7	96184408	96184408	Human	2	name
597831267	CV3739962	single nucleotide variant	NM_014251.3(SLC25A13):c.1243G>A (p.Val415Met)	Citrin deficiency [RCV005062660]	uncertain significance	7	96170113	96170113	Human	1	name
597857902	CV3816992	single nucleotide variant	NM_014251.3(SLC25A13):c.1889C>A (p.Pro630His)	Citrin deficiency [RCV005146373]	uncertain significance	7	96121330	96121330	Human	1	name
597953071	CV3843896	single nucleotide variant	NM_014251.3(SLC25A13):c.1828G>C (p.Asp610His)	Citrin deficiency [RCV005190758]	uncertain significance	7	96121668	96121668	Human	1	name
597942332	CV3847227	single nucleotide variant	NM_014251.3(SLC25A13):c.1271G>A (p.Gly424Asp)	Citrin deficiency [RCV005188147]	uncertain significance	7	96170085	96170085	Human	1	name
598168395	CV3918131	single nucleotide variant	NM_014251.3(SLC25A13):c.1519G>A (p.Val507Met)	Inborn genetic diseases [RCV005284086]	uncertain significance	7	96131815	96131815	Human	1	name
598168398	CV3918132	single nucleotide variant	NM_014251.3(SLC25A13):c.1663G>A (p.Gly555Ser)	Inborn genetic diseases [RCV005284087]	uncertain significance	7	96121926	96121926	Human	1	name
598168407	CV3918134	single nucleotide variant	NM_014251.3(SLC25A13):c.1045A>G (p.Ile349Val)	Inborn genetic diseases [RCV005284089]	uncertain significance	7	96184409	96184409	Human	1	name
598168420	CV3918137	single nucleotide variant	NM_014251.3(SLC25A13):c.1580G>C (p.Gly527Ala)	Inborn genetic diseases [RCV005284092]	uncertain significance	7	96131754	96131754	Human	1	name
598168425	CV3918138	single nucleotide variant	NM_014251.3(SLC25A13):c.1408G>A (p.Ala470Thr)	Inborn genetic diseases [RCV005284093]	uncertain significance	7	96146600	96146600	Human	1	name
598168428	CV3918139	single nucleotide variant	NM_014251.3(SLC25A13):c.1526C>T (p.Ala509Val)	Inborn genetic diseases [RCV005284094]	uncertain significance	7	96131808	96131808	Human	1	name
616934336	CV4012333	single nucleotide variant	NM_014251.3(SLC25A13):c.1064G>T (p.Arg355Leu)	not specified [RCV005409369]	uncertain significance	7	96184390	96184390	Human		name
13488028	CV444192	single nucleotide variant	NM_014251.3(SLC25A13):c.1063C>T (p.Arg355Ter)	Citrin deficiency [RCV000806593]\|Citrullinemia [RCV001834681]\|Citrullinemia, type II, adult-onset [RCV003476219]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005034068]\|not provided [RCV000523426]	pathogenic\|uncertain significance	7	96184391	96184391	Human	4	name
13522238	CV490111	single nucleotide variant	NM_014251.3(SLC25A13):c.1814G>A (p.Arg605Gln)	Citrin deficiency [RCV002532428]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV002497259]\|not provided [RCV000591483]\|not specified [RCV004782462]	uncertain significance	7	96121682	96121682	Human	3	name
13523154	CV491016	single nucleotide variant	NM_014251.3(SLC25A13):c.1681G>A (p.Gly561Arg)	Citrin deficiency [RCV002532472]\|not provided [RCV000592650]	uncertain significance	7	96121908	96121908	Human	1	name
13518449	CV491419	single nucleotide variant	NM_014251.3(SLC25A13):c.1916G>A (p.Gly639Asp)	not provided [RCV000597439]	uncertain significance	7	96121303	96121303	Human		name
13519849	CV492193	single nucleotide variant	NM_014251.3(SLC25A13):c.1322C>T (p.Ser441Phe)	not provided [RCV000598190]	uncertain significance	7	96146686	96146686	Human		name
13516970	CV492561	single nucleotide variant	NM_014251.3(SLC25A13):c.1754G>A (p.Arg585His)	Citrin deficiency [RCV001316092]\|Citrullinemia [RCV001834902]\|not provided [RCV000596178]	uncertain significance	7	96121742	96121742	Human	2	name
13523707	CV493326	single nucleotide variant	NM_014251.3(SLC25A13):c.1618C>T (p.Pro540Ser)	Citrin deficiency [RCV000799559]\|Citrullinemia [RCV001829680]\|SLC25A13-related disorder [RCV003945436]\|not provided [RCV000593343]	likely benign\|uncertain significance	7	96121971	96121971	Human	3	name , trait , alternate_id
13827647	CV578465	single nucleotide variant	NM_014251.3(SLC25A13):c.1267G>A (p.Asp423Asn)	Citrin deficiency [RCV001862007]\|Citrullinemia type II [RCV000714831]\|Inborn genetic diseases [RCV003372833]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV000714832]\|not provided [RCV000735189]	uncertain significance	7	96170089	96170089	Human	3	name
13832730	CV583666	single nucleotide variant	NM_014251.3(SLC25A13):c.1177G>A (p.Gly393Ser)	Citrullinemia, type II, adult-onset [RCV003465655]\|not provided [RCV000727669]	likely pathogenic\|uncertain significance	7	96184277	96184277	Human	1	name
13833710	CV584948	single nucleotide variant	NM_014251.3(SLC25A13):c.1147C>T (p.Arg383Cys)	Citrin deficiency [RCV001342333]\|Citrullinemia [RCV001825451]\|not provided [RCV000729053]	uncertain significance	7	96184307	96184307	Human	2	name
13834250	CV585495	single nucleotide variant	NM_014251.3(SLC25A13):c.1943C>T (p.Ala648Val)	not provided [RCV000729711]	uncertain significance	7	96121276	96121276	Human		name
13834813	CV586063	single nucleotide variant	NM_014251.3(SLC25A13):c.1909G>C (p.Val637Leu)	not provided [RCV000730425]	uncertain significance	7	96121310	96121310	Human		name
13835052	CV586306	single nucleotide variant	NM_014251.3(SLC25A13):c.1667A>G (p.Gln556Arg)	not provided [RCV000730745]	uncertain significance	7	96121922	96121922	Human		name
13835890	CV587153	single nucleotide variant	NM_014251.3(SLC25A13):c.1354G>A (p.Val452Ile)	Citrin deficiency [RCV001084376]\|Citrullinemia type II [RCV000791115]\|Citrullinemia, type II, adult-onset [RCV001526420]\|Late-onset citrullinemia [RCV001277321]\|SLC25A13-related disorder [RCV004742618]\|not provided [RCV000731811]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	96146654	96146654	Human	3	name , trait , alternate_id
13835996	CV587262	single nucleotide variant	NM_014251.3(SLC25A13):c.1423C>T (p.Arg475Trp)	not provided [RCV000731952]	uncertain significance	7	96146585	96146585	Human		name
13836700	CV587979	single nucleotide variant	NM_014251.3(SLC25A13):c.1475G>A (p.Arg492Gln)	Citrin deficiency [RCV003581707]\|not provided [RCV000732895]	uncertain significance	7	96131859	96131859	Human	1	name
13836930	CV588213	single nucleotide variant	NM_014251.3(SLC25A13):c.1658G>A (p.Arg553Gln)	Citrin deficiency [RCV002535315]\|Citrullinemia type II [RCV001163200]\|not provided [RCV000733184]	uncertain significance	7	96121931	96121931	Human	1	name
13837548	CV588838	single nucleotide variant	NM_014251.3(SLC25A13):c.1779T>G (p.Phe593Leu)	not provided [RCV000734001]	uncertain significance	7	96121717	96121717	Human		name
13838295	CV589595	single nucleotide variant	NM_014251.3(SLC25A13):c.1451A>G (p.Lys484Arg)	Inborn genetic diseases [RCV004678814]\|SLC25A13-related disorder [RCV003420315]\|not provided [RCV000734948]	uncertain significance	7	96146557	96146557	Human	2	name , trait , alternate_id
14742929	CV636492	single nucleotide variant	NM_014251.3(SLC25A13):c.1762C>T (p.Arg588Ter)	Citrin deficiency [RCV000823111]\|Citrullinemia, type II, adult-onset [RCV003467515]	pathogenic\|likely pathogenic	7	96121734	96121734	Human	2	name
21404220	CV801657	single nucleotide variant	NM_014251.3(SLC25A13):c.1336A>C (p.Thr446Pro)	Citrin deficiency [RCV005093040]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV001004527]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005036273]\|SLC25A13-related disorder [RCV003898027]\|not provided [RCV004588451]	likely pathogenic\|uncertain significance	7	96146672	96146672	Human	3	name , trait , alternate_id
21404221	CV801658	single nucleotide variant	NM_014251.3(SLC25A13):c.1231G>A (p.Val411Met)	Citrin deficiency [RCV003581770]\|Citrullinemia, type II, adult-onset [RCV003473552]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV001004528]	pathogenic\|likely pathogenic	7	96170125	96170125	Human	3	name
26906835	CV833998	single nucleotide variant	NM_014251.3(SLC25A13):c.1660G>A (p.Ala554Thr)	Citrin deficiency [RCV001051939]\|Citrullinemia [RCV001832476]	uncertain significance	7	96121929	96121929	Human	2	name
26889169	CV833999	single nucleotide variant	NM_014251.3(SLC25A13):c.1196T>A (p.Leu399Ter)	Citrin deficiency [RCV001067356]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005047282]	pathogenic	7	96171506	96171506	Human	3	name
26921642	CV834000	single nucleotide variant	NM_014251.3(SLC25A13):c.1048G>A (p.Asp350Asn)	Citrin deficiency [RCV001061179]\|Citrullinemia [RCV001832548]\|Citrullinemia type II [RCV003226430]\|Citrullinemia, type II, adult-onset [RCV003473677]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV004584421]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005036362]	pathogenic\|likely pathogenic	7	96184406	96184406	Human	4	name
28869689	CV898563	single nucleotide variant	NM_014251.3(SLC25A13):c.1823A>G (p.Tyr608Cys)	Citrullinemia type II [RCV001163198]	uncertain significance	7	96121673	96121673	Human	1	name
38472366	CV934048	single nucleotide variant	NM_014251.3(SLC25A13):c.1637C>T (p.Thr546Met)	Citrin deficiency [RCV001203153]\|Citrullinemia [RCV001833784]\|Citrullinemia type II [RCV003155369]\|Citrullinemia, type II, adult-onset [RCV003473738]	likely pathogenic	7	96121952	96121952	Human	3	name
38485342	CV934049	single nucleotide variant	NM_014251.3(SLC25A13):c.1399C>T (p.Arg467Ter)	Citrin deficiency [RCV001208433]\|Citrullinemia [RCV001833833]\|Citrullinemia, type II, adult-onset [RCV003469344]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV002508296]\|not provided [RCV001312129]	pathogenic	7	96146609	96146609	Human	4	name
38474052	CV945806	single nucleotide variant	NM_014251.3(SLC25A13):c.1449C>A (p.Tyr483Ter)	Citrin deficiency [RCV001232042]	pathogenic	7	96146559	96146559	Human	1	name
38495447	CV955266	single nucleotide variant	NM_014251.3(SLC25A13):c.1420G>A (p.Val474Met)	Citrin deficiency [RCV001241944]\|Citrullinemia [RCV001835116]\|Citrullinemia, type II, adult-onset [RCV001578819]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV001578820]\|not provided [RCV003238329]\|not specified [RCV002246229]	uncertain significance	7	96146588	96146588	Human	4	name
8639127	CV97542	single nucleotide variant	NM_014251.3(SLC25A13):c.1064G>A (p.Arg355Gln)	Citrin deficiency [RCV001854367]\|Citrullinemia type II [RCV000404137]\|Citrullinemia, type II, adult-onset [RCV003474671]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV000077782]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005031561]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	7	96184390	96184390	Human	3	name
40906057	CV978407	single nucleotide variant	NM_014251.3(SLC25A13):c.1169T>A (p.Leu390Gln)	Late-onset citrullinemia [RCV001279374]	uncertain significance	7	96184285	96184285	Human	1	name
127267457	CV1061181	microsatellite	NM_014251.3(SLC25A13):c.173_174del (p.Val58fs)	Citrin deficiency [RCV001388982]	pathogenic	7	96277234	96277235	Human		name
401947637	CV2838531	deletion	NM_014251.3(SLC25A13):c.231_240del (p.Glu77fs)	Citrullinemia, type II, adult-onset [RCV003466385]	likely pathogenic	7	96234890	96234899	Human	1	name
127272386	CV1061178	deletion	NM_014251.3(SLC25A13):c.429_430del (p.Arg144fs)	Citrin deficiency [RCV001390452]\|Citrullinemia, type II, adult-onset [RCV003469774]	pathogenic\|likely pathogenic	7	96208876	96208877	Human	2	name
151836029	CV1471612	duplication	NM_014251.3(SLC25A13):c.605_608dup (p.Val204fs)	Citrin deficiency [RCV001956177]\|Citrullinemia, type II, adult-onset [RCV004571742]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005032016]	pathogenic\|likely pathogenic	7	96193043	96193044	Human	3	name
156332239	CV2061431	deletion	NM_014251.3(SLC25A13):c.415_428del (p.Gly139fs)	Citrin deficiency [RCV002810747]	pathogenic	7	96208878	96208891	Human	1	name
155907858	CV2144547	deletion	NM_014251.3(SLC25A13):c.881_894del (p.Ala294fs)	Citrin deficiency [RCV003012037]	pathogenic	7	96189333	96189346	Human	1	name
11531182	CV227314	deletion	NM_014251.3(SLC25A13):c.852_855del (p.Met285fs)	CITRIN DEFICIENCY, NEONATAL ONSET [RCV005235125]\|Citrin deficiency [RCV000344746]\|Citrullinemia type II [RCV000239614]\|Citrullinemia, type II, adult-onset [RCV002259321]\|Late-onset citrullinemia [RCV001272102]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV000006368]\|Neonatal intrahe ... (more) patic cholestasis due to citrin deficiency [RCV002503835]\|SLC25A13-related disorder [RCV003417766]\|not provided [RCV000724667]	pathogenic\|not provided	7	96189372	96189375	Human	3	name , trait , alternate_id
597705188	CV3729084	deletion	NM_014251.3(SLC25A13):c.762_765del (p.Val255fs)	Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005048110]	likely pathogenic	7	96189664	96189667	Human	2	name
14720533	CV636494	microsatellite	NM_014251.3(SLC25A13):c.980_981del (p.Glu327fs)	Citrin deficiency [RCV000796684]	pathogenic	7	96184964	96184965	Human		name
150544940	CV1315341	indel	NM_014251.3(SLC25A13):c.1661delinsGT (p.Ala554fs)	not provided [RCV001783756]	likely pathogenic	7	96121928	96121928	Human		name
151778835	CV1370851	duplication	NM_014251.3(SLC25A13):c.1603_1609dup (p.Leu537fs)	Citrin deficiency [RCV001864775]	pathogenic	7	96121979	96121980	Human	1	name
151764380	CV1403142	microsatellite	NM_014251.3(SLC25A13):c.1416_1419del (p.Val473fs)	Citrin deficiency [RCV001914350]	pathogenic	7	96146589	96146592	Human		name
151815341	CV1406405	duplication	NM_014251.3(SLC25A13):c.1658_1661dup (p.Gln556fs)	Citrin deficiency [RCV001975186]\|Citrullinemia, type II, adult-onset [RCV003475253]	pathogenic\|likely pathogenic	7	96121927	96121928	Human	2	name
151838399	CV1492637	duplication	NM_014251.3(SLC25A13):c.1633_1637dup (p.Leu548fs)	Citrin deficiency [RCV002051468]	pathogenic	7	96121951	96121952	Human	1	name
151846930	CV1513057	deletion	NM_014251.3(SLC25A13):c.1486_1489del (p.Phe496fs)	Citrin deficiency [RCV001922242]	pathogenic	7	96131845	96131848	Human	1	name
8559052	CV21042	duplication	NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs)	Citrin deficiency [RCV000822371]\|Citrullinemia type II [RCV000006371]\|Citrullinemia, type II, adult-onset [RCV002259302]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV001004526]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005031397]\|SLC25A13 ... (more) SLC25A13-related disorder [RCV004742217]\|not provided [RCV000726889]	pathogenic\|not provided	7	96121928	96121929	Human	3	name , trait , alternate_id
401947653	CV2838539	deletion	NM_014251.3(SLC25A13):c.1108_1109del (p.Met370fs)	Citrullinemia, type II, adult-onset [RCV003466393]	likely pathogenic	7	96184345	96184346	Human	1	name
401949024	CV2838555	insertion	NM_014251.3(SLC25A13):c.587_588insAA (p.Pro197fs)	Citrullinemia, type II, adult-onset [RCV003472813]	likely pathogenic	7	96193064	96193065	Human	1	name
408382376	CV3504493	deletion	NM_014251.3(SLC25A13):c.1789_1790del (p.Leu597fs)	SLC25A13-related disorder [RCV004729805]	likely pathogenic	7	96121706	96121707	Human		name , trait , alternate_id
597724230	CV3729079	deletion	NM_014251.3(SLC25A13):c.1796_1802del (p.Thr599fs)	Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005035945]	likely pathogenic	7	96121694	96121700	Human	2	name
597723590	CV3729080	deletion	NM_014251.3(SLC25A13):c.1688_1689del (p.Ile563fs)	Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005035946]	likely pathogenic	7	96121900	96121901	Human	2	name
156043493	CV1687828	insertion	NM_014251.3(SLC25A13):c.1751-5_1751-4insGATTTCTCCA	Neonatal intrahepatic cholestasis due to citrin deficiency [RCV002509767]	pathogenic	7	96121749	96121750	Human	1	name
38499540	CV955265	deletion	NM_014251.3(SLC25A13):c.1653_1655del (p.Ala552del)	Citrin deficiency [RCV001244771]\|Citrullinemia [RCV001829937]\|SLC25A13-related disorder [RCV003908467]	uncertain significance	7	96121934	96121936	Human	3	name , trait , alternate_id
401949013	CV2838529	indel	NM_014251.3(SLC25A13):c.1039_1061delinsA (p.Tyr347fs)	Citrullinemia, type II, adult-onset [RCV003472802]	likely pathogenic	7	96184393	96184415	Human		name
598204038	CV3896579	deletion	NM_014251.3(SLC25A13):c.159_164del (p.Asn54_Pro55del)	Citrin deficiency [RCV005356797]	uncertain significance	7	96277244	96277249	Human	1	name
8559050	CV21040	deletion	NM_014251.2(SLC25A13):c.851_854delGTAT (p.Met285Profs)	Citrullinemia type II [RCV000006367]\|Neonatal intrahepatic cholestasis caused by citrin deficiency [RCV000006368]	pathogenic	7	96189373	96189376	Human		name
401947649	CV2838537	indel	NM_014251.3(SLC25A13):c.1610_1612delinsAT (p.Leu537fs)	Citrullinemia, type II, adult-onset [RCV003466391]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005036822]	pathogenic	7	96121977	96121979	Human		name
151841049	CV1368028	deletion	NM_014251.3(SLC25A13):c.1612del (p.Leu537_Val538insTer)	Citrin deficiency [RCV001902844]	pathogenic	7	96121977	96121977	Human	1	name
151860203	CV1482911	deletion	NM_014251.3(SLC25A13):c.1610del (p.Ser536_Leu537insTer)	Citrin deficiency [RCV001883822]	pathogenic	7	96121979	96121979	Human	1	name
329952261	CV2668957	indel	NM_014251.3(SLC25A13):c.1307_1308delinsAA (p.Gly436Glu)	Citrullinemia type II [RCV003231042]\|Neonatal intrahepatic cholestasis due to citrin deficiency [RCV005047477]	likely pathogenic	7	96170048	96170049	Human		name
401949028	CV2838559	microsatellite	NM_014251.3(SLC25A13):c.836_837del (p.Leu278_Tyr279insTer)	Citrullinemia, type II, adult-onset [RCV003472817]	likely pathogenic	7	96189592	96189593	Human		name
38486301	CV924962	duplication	NM_014251.3(SLC25A13):c.607_611dup (p.Val204_Ala205insTer)	Citrin deficiency [RCV001220237]	pathogenic	7	96193040	96193041	Human	1	name
401949023	CV2838554	indel	NM_014251.3(SLC25A13):c.331_334delinsAGAAACTCT (p.Asp111fs)	Citrullinemia, type II, adult-onset [RCV003472812]	likely pathogenic	7	96208972	96208975	Human		name
126726204	CV1016969	deletion	NM_014251.3(SLC25A13):c.1947_1948del (p.Gly649_Ile650insTer)	Citrullinemia, adult-onset type II [RCV001331838]	pathogenic	7	96121271	96121272	Human		name
127253635	CV1096585	indel	NM_014251.3(SLC25A13):c.1410_1411delinsCT (p.Ala470_Leu471=)	Citrin deficiency [RCV001437044]	likely benign	7	96146597	96146598	Human		name
401949026	CV2838557	indel	NM_014251.3(SLC25A13):c.1174_1177delinsT (p.Arg392_Gly393delinsCys)	Citrullinemia, type II, adult-onset [RCV003472815]	likely pathogenic	7	96184277	96184280	Human		name
13828828	CV581759	microsatellite	NM_014251.3(SLC25A13):c.1664_1665insAGATTACAGGTGGCTGCCCGGGG (p.Gln556fs)	Neonatal intrahepatic cholestasis due to citrin deficiency [RCV000721963]	pathogenic	7	96121924	96121925	Human		name
8566960	CV34363	complex	NM_014251.2(SLC25A13):c.1750_1751[insNM_138459.3:2672_24;1750+72_1751-4dup]	Neonatal intrahepatic cholestasis due to citrin deficiency [RCV000020701]	pathogenic				Human		name
127236057	CV1061171	microsatellite	NM_014251.3(SLC25A13):c.1751-5_1751-4insGATTTCTCCATTTTTTTTTTTTTTTTTNNNNNNNNNNGTCCCCCCGCCCCCCGAGCCCGAACCCCTTTCCACTGCCAACACCTCACCTCGCCCCCGCCGCCATCTTCCTCCTCCCTTGGCAGCCCCGCCCCCC	Citrin deficiency [RCV001382529]	pathogenic	7	96121749	96121750	Human		name
155936285	CV2058031	microsatellite	NM_014251.3(SLC25A13):c.65_66insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGAACAATATTTTT (p.Leu22delinsPhePhePhePhePhePhePheXaaXaaXaaXaaProArgProProLysValLeuGlyLeuGlnAlaTer)	Citrin deficiency [RCV002815394]	pathogenic	7	96296901	96296902	Human		name

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