Slc13a3 Variant Search Result - Rat Genome Database

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208 records found for search term Slc13a3

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
152127923	CV1583687	single nucleotide variant	NM_022829.6(SLC13A3):c.794+9G>T	not provided [RCV002198932]	likely benign	20	46596148	46596148	Human		name
152171988	CV1597932	single nucleotide variant	NM_022829.6(SLC13A3):c.794+9G>A	not provided [RCV002162299]	likely benign	20	46596148	46596148	Human		name
155954775	CV2086888	single nucleotide variant	NM_022829.6(SLC13A3):c.378-9G>A	not provided [RCV002862539]	likely benign	20	46610618	46610618	Human		name
407476344	CV3494807	single nucleotide variant	NM_022829.6(SLC13A3):c.608+1G>A	not specified [RCV004690708]	uncertain significance	20	46599970	46599970	Human		name
152060735	CV1558260	single nucleotide variant	NM_022829.6(SLC13A3):c.541+14A>G	not provided [RCV002128308]	likely benign	20	46610432	46610432	Human		name
152077781	CV1604853	single nucleotide variant	NM_022829.6(SLC13A3):c.541+20T>C	not provided [RCV002092457]	likely benign	20	46610426	46610426	Human		name
152106692	CV1609681	single nucleotide variant	NM_022829.6(SLC13A3):c.1333-4G>T	SLC13A3-related disorder [RCV003978700]\|not provided [RCV002116017]	benign	20	46566394	46566394	Human	1	name , trait , alternate_id
156322673	CV1897980	single nucleotide variant	NM_022829.6(SLC13A3):c.1333-5C>T	not provided [RCV002579351]	likely benign	20	46566395	46566395	Human		name
156245732	CV1956961	single nucleotide variant	NM_022829.6(SLC13A3):c.795-12G>A	not provided [RCV002576379]	likely benign	20	46592541	46592541	Human		name
155934171	CV2035266	single nucleotide variant	NM_022829.6(SLC13A3):c.1219+8G>T	not provided [RCV002751331]	likely benign	20	46583564	46583564	Human		name
156219753	CV2037632	single nucleotide variant	NM_022829.6(SLC13A3):c.795-12G>T	not provided [RCV002790583]	likely benign	20	46592541	46592541	Human		name
155964563	CV2080667	single nucleotide variant	NM_022829.6(SLC13A3):c.112-10C>T	not provided [RCV002863021]	likely benign	20	46613735	46613735	Human		name
156036179	CV2123313	single nucleotide variant	NM_022829.6(SLC13A3):c.1333-4G>A	not provided [RCV002949435]	likely benign	20	46566394	46566394	Human		name
405004665	CV2929293	single nucleotide variant	NM_022829.6(SLC13A3):c.1632+6T>C	not provided [RCV003576216]	uncertain significance	20	46563408	46563408	Human		name
405134583	CV2957930	single nucleotide variant	NM_022829.6(SLC13A3):c.112-15C>A	not provided [RCV003672701]	likely benign	20	46613740	46613740	Human		name
597914978	CV3817607	single nucleotide variant	NM_022829.6(SLC13A3):c.920+19T>C	not provided [RCV005154809]	likely benign	20	46592385	46592385	Human		name
597940377	CV3819041	single nucleotide variant	NM_022829.6(SLC13A3):c.1017-5C>G	not provided [RCV005158852]	likely benign	20	46588168	46588168	Human		name
597949296	CV3848879	deletion	NM_022829.6(SLC13A3):c.1017-5del	not provided [RCV005189817]	likely benign	20	46588168	46588168	Human		name
14399798	CV613740	single nucleotide variant	NM_022829.6(SLC13A3):c.1016+3A>G	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate [RCV000767378]\|not provided [RCV001869054]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	20	46589157	46589157	Human	1	name
152152285	CV1545786	deletion	NM_022829.6(SLC13A3):c.1632+13del	not provided [RCV002179638]	benign	20	46563401	46563401	Human		name
152157035	CV1586081	single nucleotide variant	NM_022829.6(SLC13A3):c.1632+20A>G	not provided [RCV002140284]	likely benign	20	46563394	46563394	Human		name
152157311	CV1629848	single nucleotide variant	NM_022829.6(SLC13A3):c.1121+18C>T	not provided [RCV002202816]	benign	20	46588041	46588041	Human		name
156203903	CV1974733	deletion	NM_022829.6(SLC13A3):c.1220-17del	not provided [RCV002625826]	likely benign	20	46575702	46575702	Human		name
156258510	CV1977440	single nucleotide variant	NM_022829.6(SLC13A3):c.1121+15A>G	not provided [RCV002597701]	likely benign	20	46588044	46588044	Human		name
405216849	CV2872603	single nucleotide variant	NM_022829.6(SLC13A3):c.1495-19C>T	not provided [RCV003553334]	likely benign	20	46563570	46563570	Human		name
405121834	CV2954047	single nucleotide variant	NM_022829.6(SLC13A3):c.1333-16G>A	not provided [RCV003667526]	likely benign	20	46566406	46566406	Human		name
597974258	CV3801856	single nucleotide variant	NM_022829.6(SLC13A3):c.1332+18C>G	not provided [RCV005143845]	likely benign	20	46575555	46575555	Human		name
401930464	CV2824457	single nucleotide variant	NM_022829.6(SLC13A3):c.541+1540A>C	not provided [RCV003440426]	likely benign	20	46608906	46608906	Human		name
597665020	CV3720803	deletion	NM_022829.6(SLC13A3):c.795-2_796del	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate [RCV005028937]	likely pathogenic	20	46592528	46592531	Human	1	name
8586494	CV121097	single nucleotide variant	NM_001011554.2(SLC13A3):c.1354-108C>T	Lung cancer [RCV000101617]	uncertain significance	20	46563659	46563659	Human		name
156213049	CV1997228	single nucleotide variant	NM_022829.6(SLC13A3):c.9G>T (p.Ala3=)	not provided [RCV002666916]	likely benign	20	46651413	46651413	Human		name
156097105	CV2116901	single nucleotide variant	NM_022829.6(SLC13A3):c.6G>A (p.Ala2=)	not provided [RCV002952594]	likely benign\|uncertain significance	20	46651416	46651416	Human		name
8637345	CV92571	single nucleotide variant	NM_001011554.2(SLC13A3):c.400+1524C>T	Malignant melanoma [RCV000072669]	not provided	20	46608922	46608922	Human		name
8586495	CV121098	single nucleotide variant	NM_001011554.2(SLC13A3):c.-30-24163G>C	Lung cancer [RCV000101618]	uncertain significance	20	46637888	46637888	Human		name
127284545	CV1107099	single nucleotide variant	NM_022829.6(SLC13A3):c.54G>A (p.Leu18=)	not provided [RCV001449562]	likely benign	20	46651368	46651368	Human		name
152138806	CV1574536	single nucleotide variant	NM_022829.6(SLC13A3):c.66C>T (p.Phe22=)	not provided [RCV002177774]	likely benign	20	46651356	46651356	Human		name
405086930	CV3167424	single nucleotide variant	NM_022829.6(SLC13A3):c.51G>C (p.Leu17=)	not provided [RCV003852006]	likely benign	20	46651371	46651371	Human		name
127316916	CV1158890	single nucleotide variant	NM_022829.6(SLC13A3):c.207C>G (p.Leu69=)	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate [RCV001807411]\|SLC13A3-related disorder [RCV003980597]\|not provided [RCV001520780]	benign	20	46613630	46613630	Human	1	name , trait , alternate_id
151729513	CV1388825	single nucleotide variant	NM_022829.6(SLC13A3):c.186G>A (p.Thr62=)	not provided [RCV001966959]	likely benign\|uncertain significance	20	46613651	46613651	Human		name
152150967	CV1559583	single nucleotide variant	NM_022829.6(SLC13A3):c.102C>G (p.Leu34=)	not provided [RCV002220810]	likely benign	20	46651320	46651320	Human		name
155946388	CV1999591	single nucleotide variant	NM_022829.6(SLC13A3):c.147G>A (p.Ala49=)	not provided [RCV002685766]	likely benign	20	46613690	46613690	Human		name
156291169	CV2065017	single nucleotide variant	NM_022829.6(SLC13A3):c.135C>T (p.Ile45=)	not provided [RCV002856758]	likely benign	20	46613702	46613702	Human		name
127258490	CV1107098	single nucleotide variant	NM_022829.6(SLC13A3):c.753G>A (p.Thr251=)	not provided [RCV001438131]	likely benign	20	46596198	46596198	Human		name
151879197	CV1370230	single nucleotide variant	NM_022829.6(SLC13A3):c.86C>T (p.Pro29Leu)	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate [RCV003339862]\|not provided [RCV001961419]\|not specified [RCV004044671]	uncertain significance	20	46651336	46651336	Human	1	name
151744417	CV1428015	single nucleotide variant	NM_022829.6(SLC13A3):c.55G>C (p.Val19Leu)	not provided [RCV001926799]	uncertain significance	20	46651367	46651367	Human		name
151828669	CV1489169	single nucleotide variant	NM_022829.6(SLC13A3):c.50T>C (p.Leu17Pro)	not provided [RCV001934843]	uncertain significance	20	46651372	46651372	Human		name
151867943	CV1491974	single nucleotide variant	NM_022829.6(SLC13A3):c.32T>C (p.Val11Ala)	not provided [RCV002018580]	uncertain significance	20	46651390	46651390	Human		name
152121632	CV1521473	single nucleotide variant	NM_022829.6(SLC13A3):c.336C>T (p.Ile112=)	not provided [RCV002135778]	benign	20	46613501	46613501	Human		name
152166614	CV1524408	single nucleotide variant	NM_022829.6(SLC13A3):c.525G>A (p.Glu175=)	not provided [RCV002141960]	likely benign	20	46610462	46610462	Human		name
152079190	CV1579817	single nucleotide variant	NM_022829.6(SLC13A3):c.903C>T (p.Tyr301=)	SLC13A3-related disorder [RCV003951163]\|not provided [RCV002076142]	benign\|likely benign	20	46592421	46592421	Human	1	name , trait , alternate_id
152163597	CV1600915	single nucleotide variant	NM_022829.6(SLC13A3):c.813C>T (p.Asp271=)	not provided [RCV002141352]	benign	20	46592511	46592511	Human		name
152176601	CV1631631	single nucleotide variant	NM_022829.6(SLC13A3):c.412T>C (p.Leu138=)	not provided [RCV002164747]	benign	20	46610575	46610575	Human		name
152056450	CV1635056	single nucleotide variant	NM_022829.6(SLC13A3):c.303C>T (p.Ser101=)	not provided [RCV002089770]	likely benign	20	46613534	46613534	Human		name
152072051	CV1643665	single nucleotide variant	NM_022829.6(SLC13A3):c.351G>T (p.Leu117=)	not provided [RCV002111588]	likely benign	20	46613486	46613486	Human		name
152093868	CV1648123	single nucleotide variant	NM_022829.6(SLC13A3):c.987G>A (p.Arg329=)	not provided [RCV002114440]	likely benign	20	46589189	46589189	Human		name
152173809	CV1659897	single nucleotide variant	NM_022829.6(SLC13A3):c.594C>T (p.Leu198=)	not provided [RCV002162931]	likely benign	20	46599985	46599985	Human		name
152108009	CV1661975	single nucleotide variant	NM_022829.6(SLC13A3):c.957T>C (p.Asn319=)	not provided [RCV002116170]	benign	20	46589219	46589219	Human		name
156050901	CV1869029	single nucleotide variant	NM_022829.6(SLC13A3):c.777G>T (p.Leu259=)	not provided [RCV003052995]	likely benign	20	46596174	46596174	Human		name
156075358	CV1904181	single nucleotide variant	NM_022829.6(SLC13A3):c.825C>T (p.Phe275=)	not provided [RCV002591398]	likely benign	20	46592499	46592499	Human		name
156353741	CV1962211	single nucleotide variant	NM_022829.6(SLC13A3):c.68C>T (p.Thr23Met)	not provided [RCV002581243]	uncertain significance	20	46651354	46651354	Human		name
156140333	CV2002713	single nucleotide variant	NM_022829.6(SLC13A3):c.558C>T (p.Asn186=)	not provided [RCV002663544]	likely benign	20	46600021	46600021	Human		name
156018283	CV2020534	single nucleotide variant	NM_022829.6(SLC13A3):c.342C>G (p.Leu114=)	not provided [RCV002735250]	likely benign	20	46613495	46613495	Human		name
156174924	CV2026643	single nucleotide variant	NM_022829.6(SLC13A3):c.786G>A (p.Gln262=)	not provided [RCV002765431]	likely benign	20	46596165	46596165	Human		name
155935274	CV2114096	single nucleotide variant	NM_022829.6(SLC13A3):c.990A>G (p.Glu330=)	not provided [RCV002904087]	likely benign	20	46589186	46589186	Human		name
156278231	CV2286746	single nucleotide variant	NM_022829.6(SLC13A3):c.97G>T (p.Ala33Ser)	not specified [RCV004142564]	uncertain significance	20	46651325	46651325	Human		name
405147737	CV2881738	single nucleotide variant	NM_022829.6(SLC13A3):c.891C>T (p.Ile297=)	not provided [RCV003561493]	benign	20	46592433	46592433	Human		name
405221722	CV3060176	single nucleotide variant	NM_022829.6(SLC13A3):c.579G>A (p.Thr193=)	not provided [RCV003733355]	likely benign	20	46600000	46600000	Human		name
405200151	CV3066711	single nucleotide variant	NM_022829.6(SLC13A3):c.804G>A (p.Pro268=)	not provided [RCV003730695]	likely benign	20	46592520	46592520	Human		name
597674080	CV3599506	single nucleotide variant	NM_022829.6(SLC13A3):c.609C>G (p.Ala203=)	not specified [RCV004856732]	likely benign	20	46596342	46596342	Human		name
597913290	CV3740474	single nucleotide variant	NM_022829.6(SLC13A3):c.435C>T (p.Thr145=)	not provided [RCV005073811]	likely benign	20	46610552	46610552	Human		name
597925669	CV3778088	deletion	NM_022829.6(SLC13A3):c.1495-31_1495-20del	not provided [RCV005130812]	likely benign	20	46563571	46563582	Human		name
597865652	CV3834341	single nucleotide variant	NM_022829.6(SLC13A3):c.513C>T (p.Asp171=)	not provided [RCV005175709]	likely benign	20	46610474	46610474	Human		name
598268044	CV3921533	single nucleotide variant	NM_022829.6(SLC13A3):c.657C>T (p.Asp219=)	not specified [RCV005281694]	likely benign	20	46596294	46596294	Human		name
127313873	CV1158886	single nucleotide variant	NM_022829.6(SLC13A3):c.1458G>C (p.Ala486=)	SLC13A3-related disorder [RCV003966121]\|not provided [RCV001519406]	benign	20	46566265	46566265	Human	1	name , trait , alternate_id
127313880	CV1158887	single nucleotide variant	NM_022829.6(SLC13A3):c.1278C>T (p.Pro426=)	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate [RCV001807406]\|SLC13A3-related disorder [RCV003980579]\|not provided [RCV001519407]	benign	20	46575627	46575627	Human	1	name , trait , alternate_id
127290299	CV1158888	single nucleotide variant	NM_022829.6(SLC13A3):c.1035T>A (p.Val345=)	not provided [RCV001509781]	benign	20	46588145	46588145	Human		name
151891914	CV1403137	single nucleotide variant	NM_022829.6(SLC13A3):c.121T>G (p.Cys41Gly)	not provided [RCV001943562]	uncertain significance	20	46613716	46613716	Human		name
151727029	CV1409825	single nucleotide variant	NM_022829.6(SLC13A3):c.118C>G (p.Arg40Gly)	not provided [RCV001910481]	uncertain significance	20	46613719	46613719	Human		name
151720678	CV1491575	single nucleotide variant	NM_022829.6(SLC13A3):c.173C>T (p.Pro58Leu)	not provided [RCV002003618]	uncertain significance	20	46613664	46613664	Human		name
152111733	CV1532100	single nucleotide variant	NM_022829.6(SLC13A3):c.1659G>C (p.Leu553=)	not provided [RCV002116631]	likely benign	20	46560172	46560172	Human		name
152141609	CV1532954	single nucleotide variant	NM_022829.6(SLC13A3):c.1507A>C (p.Arg503=)	not provided [RCV002156844]	likely benign	20	46563539	46563539	Human		name
152149360	CV1545373	single nucleotide variant	NM_022829.6(SLC13A3):c.1602C>T (p.Phe534=)	not provided [RCV002121526]	likely benign	20	46563444	46563444	Human		name
152089299	CV1550362	single nucleotide variant	NM_022829.6(SLC13A3):c.1272A>G (p.Thr424=)	not provided [RCV002131842]	likely benign	20	46575633	46575633	Human		name
152136176	CV1560578	single nucleotide variant	NM_022829.6(SLC13A3):c.118C>T (p.Arg40Cys)	not provided [RCV002137571]	benign	20	46613719	46613719	Human		name
152107155	CV1609754	single nucleotide variant	NM_022829.6(SLC13A3):c.1518C>G (p.Pro506=)	not provided [RCV002116070]	benign	20	46563528	46563528	Human		name
152042104	CV1621649	single nucleotide variant	NM_022829.6(SLC13A3):c.1311C>T (p.Phe437=)	not provided [RCV002107883]	likely benign	20	46575594	46575594	Human		name
152084807	CV1622952	single nucleotide variant	NM_022829.6(SLC13A3):c.1179G>A (p.Pro393=)	not provided [RCV002113240]	likely benign	20	46583612	46583612	Human		name
152044850	CV1637911	single nucleotide variant	NM_022829.6(SLC13A3):c.1134T>C (p.Asp378=)	not provided [RCV002144969]	likely benign	20	46583657	46583657	Human		name
152125558	CV1646195	single nucleotide variant	NM_022829.6(SLC13A3):c.1002C>T (p.Asn334=)	not provided [RCV002217353]	likely benign	20	46589174	46589174	Human		name
152030077	CV1665010	single nucleotide variant	NM_022829.6(SLC13A3):c.1344G>A (p.Leu448=)	not provided [RCV002105808]	likely benign	20	46566379	46566379	Human		name
156277006	CV1911931	single nucleotide variant	NM_022829.6(SLC13A3):c.205C>T (p.Leu69Phe)	not provided [RCV002628301]\|not specified [RCV004857952]	uncertain significance	20	46613632	46613632	Human		name
156404999	CV1916827	single nucleotide variant	NM_022829.6(SLC13A3):c.1197C>A (p.Leu399=)	not provided [RCV002606228]	uncertain significance	20	46583594	46583594	Human		name
156148575	CV1932447	single nucleotide variant	NM_022829.6(SLC13A3):c.144G>A (p.Met48Ile)	not provided [RCV002623921]\|not specified [RCV004070666]	uncertain significance	20	46613693	46613693	Human		name
156440530	CV1943635	single nucleotide variant	NM_022829.6(SLC13A3):c.1146C>T (p.Gly382=)	not provided [RCV003110565]	likely benign	20	46583645	46583645	Human		name
156440192	CV1946555	single nucleotide variant	NM_022829.6(SLC13A3):c.145G>A (p.Ala49Thr)	not provided [RCV003110223]	uncertain significance	20	46613692	46613692	Human		name
156085578	CV1987587	single nucleotide variant	NM_022829.6(SLC13A3):c.1062C>T (p.Ile354=)	not provided [RCV002621685]	likely benign	20	46588118	46588118	Human		name
155991205	CV1990506	single nucleotide variant	NM_022829.6(SLC13A3):c.202G>A (p.Val68Ile)	not provided [RCV002618029]	uncertain significance	20	46613635	46613635	Human		name
156246365	CV1991923	single nucleotide variant	NM_022829.6(SLC13A3):c.1083G>A (p.Pro361=)	not provided [RCV002645751]	uncertain significance	20	46588097	46588097	Human		name
156116091	CV1995538	single nucleotide variant	NM_022829.6(SLC13A3):c.1110C>T (p.Leu370=)	not provided [RCV002640128]	uncertain significance	20	46588070	46588070	Human		name
155934063	CV2067535	single nucleotide variant	NM_022829.6(SLC13A3):c.236A>G (p.Asn79Ser)	not provided [RCV002838948]	uncertain significance	20	46613601	46613601	Human		name
156209516	CV2074168	single nucleotide variant	NM_022829.6(SLC13A3):c.242T>G (p.Val81Gly)	not provided [RCV002829243]	uncertain significance	20	46613595	46613595	Human		name
156032311	CV2142136	single nucleotide variant	NM_022829.6(SLC13A3):c.1143C>T (p.Thr381=)	not provided [RCV002976658]	likely benign	20	46583648	46583648	Human		name
156092437	CV2143005	single nucleotide variant	NM_022829.6(SLC13A3):c.1392C>T (p.Pro464=)	SLC13A3-related disorder [RCV003916699]\|not provided [RCV002979659]	benign\|likely benign	20	46566331	46566331	Human	1	name , trait , alternate_id
401771852	CV2711941	single nucleotide variant	NM_022829.6(SLC13A3):c.248C>T (p.Pro83Leu)	not specified [RCV004309558]	uncertain significance	20	46613589	46613589	Human		name
402484670	CV3036864	single nucleotide variant	NM_022829.6(SLC13A3):c.1371C>T (p.His457=)	not provided [RCV003713181]	likely benign	20	46566352	46566352	Human		name
405254078	CV3045266	single nucleotide variant	NM_022829.6(SLC13A3):c.194T>G (p.Leu65Arg)	not provided [RCV003722839]	uncertain significance	20	46613643	46613643	Human		name
405220186	CV3063416	single nucleotide variant	NM_022829.6(SLC13A3):c.237C>A (p.Asn79Lys)	not provided [RCV003733134]	uncertain significance	20	46613600	46613600	Human		name
402465693	CV3177327	single nucleotide variant	NM_022829.6(SLC13A3):c.188C>T (p.Ala63Val)	not provided [RCV003872958]	uncertain significance	20	46613649	46613649	Human		name
404988600	CV3179891	single nucleotide variant	NM_022829.6(SLC13A3):c.185C>T (p.Thr62Met)	not provided [RCV003881369]	uncertain significance	20	46613652	46613652	Human		name
597674110	CV3599509	single nucleotide variant	NM_022829.6(SLC13A3):c.209T>A (p.Phe70Tyr)	not specified [RCV004856735]	uncertain significance	20	46613628	46613628	Human		name
597958754	CV3751967	single nucleotide variant	NM_022829.6(SLC13A3):c.1581G>T (p.Thr527=)	not provided [RCV005081097]	likely benign	20	46563465	46563465	Human		name
597955619	CV3841280	single nucleotide variant	NM_022829.6(SLC13A3):c.1342C>T (p.Leu448=)	not provided [RCV005191399]	likely benign	20	46566381	46566381	Human		name
598268051	CV3921534	single nucleotide variant	NM_022829.6(SLC13A3):c.280C>T (p.Leu94Phe)	not specified [RCV005281695]	uncertain significance	20	46613557	46613557	Human		name
8621439	CV75413	single nucleotide variant	NM_022829.6(SLC13A3):c.292A>T (p.Ile98Phe)	not provided [RCV000054635]	benign\|uncertain significance	20	46613545	46613545	Human		name
127293798	CV1158889	single nucleotide variant	NM_022829.6(SLC13A3):c.908G>C (p.Gly303Ala)	SLC13A3-related disorder [RCV003921080]\|not provided [RCV001511493]	benign	20	46592416	46592416	Human	1	name , trait , alternate_id
151858329	CV1347625	deletion	NM_022829.6(SLC13A3):c.1519del (p.Leu507fs)	not provided [RCV002034055]	uncertain significance	20	46563527	46563527	Human		name
151737998	CV1379097	single nucleotide variant	NM_022829.6(SLC13A3):c.544G>A (p.Ala182Thr)	not provided [RCV001911640]	uncertain significance	20	46600035	46600035	Human		name
151790112	CV1393024	single nucleotide variant	NM_022829.6(SLC13A3):c.767A>G (p.Asn256Ser)	not provided [RCV001931334]	uncertain significance	20	46596184	46596184	Human		name
151793558	CV1423100	single nucleotide variant	NM_022829.6(SLC13A3):c.623G>A (p.Gly208Glu)	not provided [RCV001917048]	uncertain significance	20	46596328	46596328	Human		name
151760637	CV1448617	single nucleotide variant	NM_022829.6(SLC13A3):c.974G>A (p.Arg325Gln)	not provided [RCV001949097]	uncertain significance	20	46589202	46589202	Human		name
151775263	CV1463548	single nucleotide variant	NM_022829.6(SLC13A3):c.679C>G (p.Arg227Gly)	not provided [RCV001896735]	uncertain significance	20	46596272	46596272	Human		name
151813708	CV1494642	single nucleotide variant	NM_022829.6(SLC13A3):c.619C>G (p.Pro207Ala)	not provided [RCV001954076]\|not specified [RCV004857858]	uncertain significance	20	46596332	46596332	Human		name
151745380	CV1501781	single nucleotide variant	NM_022829.6(SLC13A3):c.790A>G (p.Lys264Glu)	not provided [RCV002042669]	uncertain significance	20	46596161	46596161	Human		name
151787510	CV1513834	single nucleotide variant	NM_022829.6(SLC13A3):c.328C>T (p.Arg110Trp)	not provided [RCV001916483]\|not specified [RCV004043291]	uncertain significance	20	46613509	46613509	Human		name
156196791	CV1900853	single nucleotide variant	NM_022829.6(SLC13A3):c.919A>T (p.Arg307Trp)	not provided [RCV002574602]	uncertain significance	20	46592405	46592405	Human		name
155937500	CV1917167	single nucleotide variant	NM_022829.6(SLC13A3):c.523G>A (p.Glu175Lys)	not provided [RCV002615410]	uncertain significance	20	46610464	46610464	Human		name
156147662	CV1963938	single nucleotide variant	NM_022829.6(SLC13A3):c.682C>T (p.Arg228Trp)	not provided [RCV002572795]	uncertain significance	20	46596269	46596269	Human		name
156129711	CV1966155	single nucleotide variant	NM_022829.6(SLC13A3):c.857T>C (p.Met286Thr)	not provided [RCV002593447]	uncertain significance	20	46592467	46592467	Human		name
156211613	CV1983424	single nucleotide variant	NM_022829.6(SLC13A3):c.314A>G (p.Glu105Gly)	not provided [RCV002626098]	uncertain significance	20	46613523	46613523	Human		name
156088439	CV1983900	single nucleotide variant	NM_022829.6(SLC13A3):c.904G>A (p.Gly302Arg)	not provided [RCV002621776]	uncertain significance	20	46592420	46592420	Human		name
156232317	CV1999413	single nucleotide variant	NM_022829.6(SLC13A3):c.668A>T (p.Glu223Val)	not provided [RCV002667628]	uncertain significance	20	46596283	46596283	Human		name
156392281	CV2006320	single nucleotide variant	NM_022829.6(SLC13A3):c.587A>G (p.Gln196Arg)	not provided [RCV002654499]	uncertain significance	20	46599992	46599992	Human		name
156021553	CV2019390	single nucleotide variant	NM_022829.6(SLC13A3):c.878G>C (p.Gly293Ala)	not provided [RCV002691026]	uncertain significance	20	46592446	46592446	Human		name
156136665	CV2048128	single nucleotide variant	NM_022829.6(SLC13A3):c.650C>T (p.Pro217Leu)	not provided [RCV002800807]	uncertain significance	20	46596301	46596301	Human		name
155916427	CV2091783	single nucleotide variant	NM_022829.6(SLC13A3):c.950G>C (p.Arg317Thr)	not provided [RCV002903113]	uncertain significance	20	46589226	46589226	Human		name
155932435	CV2142168	single nucleotide variant	NM_022829.6(SLC13A3):c.578C>T (p.Thr193Met)	not provided [RCV002993490]	uncertain significance	20	46600001	46600001	Human		name
156385934	CV2228073	single nucleotide variant	NM_022829.6(SLC13A3):c.371C>T (p.Pro124Leu)	not specified [RCV004096305]	uncertain significance	20	46613466	46613466	Human		name
156089045	CV2359324	single nucleotide variant	NM_022829.6(SLC13A3):c.551G>A (p.Arg184Gln)	not specified [RCV004212607]	uncertain significance	20	46600028	46600028	Human		name
401860849	CV2772272	single nucleotide variant	NM_022829.6(SLC13A3):c.814G>A (p.Val272Met)	not specified [RCV004353297]	uncertain significance	20	46592510	46592510	Human		name
405135101	CV2896814	single nucleotide variant	NM_022829.6(SLC13A3):c.835T>C (p.Phe279Leu)	not provided [RCV003560352]	uncertain significance	20	46592489	46592489	Human		name
402488131	CV2999140	single nucleotide variant	NM_022829.6(SLC13A3):c.692G>A (p.Trp231Ter)	not provided [RCV003687162]	uncertain significance	20	46596259	46596259	Human		name
405141184	CV3046050	single nucleotide variant	NM_022829.6(SLC13A3):c.496A>C (p.Lys166Gln)	not provided [RCV003725657]	uncertain significance	20	46610491	46610491	Human		name
405119124	CV3116163	single nucleotide variant	NM_022829.6(SLC13A3):c.994T>A (p.Tyr332Asn)	not provided [RCV003814653]\|not specified [RCV004366725]	uncertain significance	20	46589182	46589182	Human		name
405111923	CV3133535	single nucleotide variant	NM_022829.6(SLC13A3):c.337G>A (p.Ala113Thr)	not provided [RCV003836328]	uncertain significance	20	46613500	46613500	Human		name
405020698	CV3139173	single nucleotide variant	NM_022829.6(SLC13A3):c.634G>T (p.Val212Phe)	not provided [RCV003829815]\|not specified [RCV004366824]	uncertain significance	20	46596317	46596317	Human		name
405231612	CV3144469	single nucleotide variant	NM_022829.6(SLC13A3):c.331C>T (p.Arg111Ter)	not provided [RCV003852922]	uncertain significance	20	46613506	46613506	Human		name
402484185	CV3171238	single nucleotide variant	NM_022829.6(SLC13A3):c.731T>C (p.Ile244Thr)	not provided [RCV003876265]	uncertain significance	20	46596220	46596220	Human		name
405211745	CV3173421	single nucleotide variant	NM_022829.6(SLC13A3):c.618C>G (p.His206Gln)	not provided [RCV003862170]	uncertain significance	20	46596333	46596333	Human		name
402468012	CV3174137	single nucleotide variant	NM_022829.6(SLC13A3):c.595G>A (p.Ala199Thr)	not provided [RCV003873420]	uncertain significance	20	46599984	46599984	Human		name
405767272	CV3328732	single nucleotide variant	NM_022829.6(SLC13A3):c.373G>T (p.Ala125Ser)	not specified [RCV004456352]	uncertain significance	20	46613464	46613464	Human		name
405767278	CV3328733	single nucleotide variant	NM_022829.6(SLC13A3):c.521A>C (p.Gln174Pro)	not specified [RCV004456353]	uncertain significance	20	46610466	46610466	Human		name
597674090	CV3599507	single nucleotide variant	NM_022829.6(SLC13A3):c.602C>T (p.Thr201Ile)	not specified [RCV004856733]	uncertain significance	20	46599977	46599977	Human		name
597674102	CV3599508	single nucleotide variant	NM_022829.6(SLC13A3):c.347T>C (p.Ile116Thr)	not specified [RCV004856734]	uncertain significance	20	46613490	46613490	Human		name
597963028	CV3753652	single nucleotide variant	NM_022829.6(SLC13A3):c.304G>A (p.Ala102Thr)	not provided [RCV005081956]	uncertain significance	20	46613533	46613533	Human		name
14399797	CV613738	single nucleotide variant	NM_022829.6(SLC13A3):c.761C>A (p.Ala254Asp)	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate [RCV000767376]	pathogenic	20	46596190	46596190	Human	1	name
126742336	CV1018703	single nucleotide variant	NM_022829.6(SLC13A3):c.1106G>A (p.Ser369Asn)	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate [RCV001329923]\|not specified [RCV004035683]	uncertain significance	20	46588074	46588074	Human	1	name
151734112	CV1392963	single nucleotide variant	NM_022829.6(SLC13A3):c.1075C>T (p.Arg359Trp)	not provided [RCV001967410]\|not specified [RCV004041925]	uncertain significance	20	46588105	46588105	Human		name
151856861	CV1401945	single nucleotide variant	NM_022829.6(SLC13A3):c.1241C>T (p.Pro414Leu)	not provided [RCV002017286]	uncertain significance	20	46575664	46575664	Human		name
151740162	CV1412875	single nucleotide variant	NM_022829.6(SLC13A3):c.1115A>G (p.Asn372Ser)	not provided [RCV001926389]	uncertain significance	20	46588065	46588065	Human		name
151749484	CV1431180	single nucleotide variant	NM_022829.6(SLC13A3):c.1365G>T (p.Gln455His)	not provided [RCV001912833]	uncertain significance	20	46566358	46566358	Human		name
151743117	CV1431710	single nucleotide variant	NM_022829.6(SLC13A3):c.1024G>A (p.Glu342Lys)	not provided [RCV001926664]\|not specified [RCV004044275]	uncertain significance	20	46588156	46588156	Human		name
151716385	CV1472788	single nucleotide variant	NM_022829.6(SLC13A3):c.1691A>C (p.Asn564Thr)	not provided [RCV002039402]	uncertain significance	20	46560140	46560140	Human		name
151713872	CV1473254	single nucleotide variant	NM_022829.6(SLC13A3):c.1360G>A (p.Gly454Arg)	not provided [RCV001889934]\|not specified [RCV004041104]	uncertain significance	20	46566363	46566363	Human		name
151798344	CV1480301	single nucleotide variant	NM_022829.6(SLC13A3):c.1748A>T (p.Tyr583Phe)	not provided [RCV001952688]	uncertain significance	20	46560083	46560083	Human		name
151724127	CV1500412	single nucleotide variant	NM_022829.6(SLC13A3):c.1757A>G (p.Asn586Ser)	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate [RCV003492699]\|not provided [RCV001910123]\|not specified [RCV004042804]	uncertain significance	20	46560074	46560074	Human	1	name
151843018	CV1514549	single nucleotide variant	NM_022829.6(SLC13A3):c.1147G>A (p.Val383Met)	not provided [RCV001956986]	uncertain significance	20	46583644	46583644	Human		name
9687082	CV171656	single nucleotide variant	NM_022829.6(SLC13A3):c.1637G>A (p.Arg546Gln)	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate [RCV001329924]\|Prostate cancer [RCV000149301]\|not provided [RCV002516002]	uncertain significance	20	46560194	46560194	Human	3	name
155674494	CV1774305	single nucleotide variant	NM_022829.6(SLC13A3):c.1804C>T (p.Leu602Phe)	not provided [RCV002297706]	uncertain significance	20	46560027	46560027	Human		name
156301794	CV1902137	single nucleotide variant	NM_022829.6(SLC13A3):c.1144G>A (p.Gly382Ser)	not provided [RCV003087965]\|not specified [RCV004073105]	uncertain significance	20	46583647	46583647	Human		name
156315534	CV1907347	single nucleotide variant	NM_022829.6(SLC13A3):c.1798C>T (p.Arg600Trp)	not provided [RCV003088698]	uncertain significance	20	46560033	46560033	Human		name
155956601	CV1915481	single nucleotide variant	NM_022829.6(SLC13A3):c.1235C>T (p.Thr412Ile)	not provided [RCV002616509]\|not specified [RCV004673815]	uncertain significance	20	46575670	46575670	Human		name
155949614	CV1921855	single nucleotide variant	NM_022829.6(SLC13A3):c.1636C>T (p.Arg546Trp)	not provided [RCV002616148]\|not specified [RCV004070482]	uncertain significance	20	46560195	46560195	Human		name
156449173	CV1944432	single nucleotide variant	NM_022829.6(SLC13A3):c.1571C>T (p.Pro524Leu)	not provided [RCV003121286]	uncertain significance	20	46563475	46563475	Human		name
156330336	CV1954046	single nucleotide variant	NM_022829.6(SLC13A3):c.1720G>A (p.Gly574Ser)	not provided [RCV002579961]	uncertain significance	20	46560111	46560111	Human		name
156288923	CV1961351	single nucleotide variant	NM_022829.6(SLC13A3):c.1748A>C (p.Tyr583Ser)	not provided [RCV002577752]	uncertain significance	20	46560083	46560083	Human		name
156383784	CV1975503	single nucleotide variant	NM_022829.6(SLC13A3):c.1546G>A (p.Gly516Ser)	not provided [RCV002604154]	uncertain significance	20	46563500	46563500	Human		name
156041163	CV1999027	single nucleotide variant	NM_022829.6(SLC13A3):c.1730C>T (p.Pro577Leu)	not provided [RCV002659043]	uncertain significance	20	46560101	46560101	Human		name
156106217	CV2008394	single nucleotide variant	NM_022829.6(SLC13A3):c.1463T>C (p.Ile488Thr)	not provided [RCV002695489]	uncertain significance	20	46566260	46566260	Human		name
156247482	CV2029454	single nucleotide variant	NM_022829.6(SLC13A3):c.1388C>T (p.Pro463Leu)	not provided [RCV002745876]	uncertain significance	20	46566335	46566335	Human		name
155965847	CV2034248	single nucleotide variant	NM_022829.6(SLC13A3):c.1408C>T (p.Leu470Phe)	not provided [RCV002731390]	uncertain significance	20	46566315	46566315	Human		name
156269197	CV2102807	single nucleotide variant	NM_022829.6(SLC13A3):c.1384G>A (p.Val462Met)	not provided [RCV002895867]	likely benign	20	46566339	46566339	Human		name
156354021	CV2118966	single nucleotide variant	NM_022829.6(SLC13A3):c.1533T>G (p.Ile511Met)	not provided [RCV002966518]	uncertain significance	20	46563513	46563513	Human		name
156204012	CV2163729	single nucleotide variant	NM_022829.6(SLC13A3):c.1796T>A (p.Phe599Tyr)	not provided [RCV003042078]	uncertain significance	20	46560035	46560035	Human		name
156105072	CV2164635	single nucleotide variant	NM_022829.6(SLC13A3):c.1163T>A (p.Ile388Asn)	not provided [RCV003038726]	uncertain significance	20	46583628	46583628	Human		name
156334367	CV2191626	single nucleotide variant	NM_022829.6(SLC13A3):c.1109T>C (p.Leu370Pro)	not provided [RCV003063878]	uncertain significance	20	46588071	46588071	Human		name
156242185	CV2306483	single nucleotide variant	NM_022829.6(SLC13A3):c.1543G>A (p.Val515Ile)	not specified [RCV004157102]	uncertain significance	20	46563503	46563503	Human		name
329848315	CV2667949	single nucleotide variant	NM_022829.6(SLC13A3):c.1478C>T (p.Pro493Leu)	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate [RCV003229502]	likely pathogenic	20	46566245	46566245	Human	1	name
401738392	CV2714440	single nucleotide variant	NM_022829.6(SLC13A3):c.1513C>T (p.His505Tyr)	not specified [RCV004317969]	uncertain significance	20	46563533	46563533	Human		name
401858064	CV2750565	single nucleotide variant	NM_022829.6(SLC13A3):c.1737G>A (p.Trp579Ter)	not provided [RCV003334238]	uncertain significance	20	46560094	46560094	Human		name
405121931	CV2888039	single nucleotide variant	NM_022829.6(SLC13A3):c.1169T>A (p.Phe390Tyr)	not provided [RCV003559093]	uncertain significance	20	46583622	46583622	Human		name
405132730	CV3051326	single nucleotide variant	NM_022829.6(SLC13A3):c.1417G>A (p.Val473Met)	not provided [RCV003724973]	uncertain significance	20	46566306	46566306	Human		name
405173885	CV3122892	single nucleotide variant	NM_022829.6(SLC13A3):c.1457C>T (p.Ala486Val)	not provided [RCV003819290]	uncertain significance	20	46566266	46566266	Human		name
405036842	CV3140589	single nucleotide variant	NM_022829.6(SLC13A3):c.1426G>A (p.Ala476Thr)	not provided [RCV003831071]\|not specified [RCV005419722]	uncertain significance	20	46566297	46566297	Human		name
405252567	CV3178030	single nucleotide variant	NM_022829.6(SLC13A3):c.1745T>G (p.Met582Arg)	not provided [RCV003870810]	uncertain significance	20	46560086	46560086	Human		name
407519453	CV3477148	single nucleotide variant	NM_022829.6(SLC13A3):c.1009C>T (p.Pro337Ser)	not specified [RCV004676515]	uncertain significance	20	46589167	46589167	Human		name
597674071	CV3599505	single nucleotide variant	NM_022829.6(SLC13A3):c.1613A>T (p.His538Leu)	not specified [RCV004856731]	uncertain significance	20	46563433	46563433	Human		name
597674117	CV3599510	single nucleotide variant	NM_022829.6(SLC13A3):c.1426G>T (p.Ala476Ser)	not specified [RCV004856736]	uncertain significance	20	46566297	46566297	Human		name
597871806	CV3737309	single nucleotide variant	NM_022829.6(SLC13A3):c.1501C>T (p.Arg501Cys)	not provided [RCV005068755]	uncertain significance	20	46563545	46563545	Human		name
598268057	CV3921535	single nucleotide variant	NM_022829.6(SLC13A3):c.1082C>T (p.Pro361Leu)	not specified [RCV005281696]	uncertain significance	20	46588098	46588098	Human		name
14399496	CV613739	single nucleotide variant	NM_022829.6(SLC13A3):c.1642G>A (p.Gly548Ser)	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate [RCV000767377]	pathogenic	20	46560189	46560189	Human	1	name
8637342	CV92568	single nucleotide variant	NM_022829.6(SLC13A3):c.1076G>A (p.Arg359Gln)	not provided [RCV003121175]\|not specified [RCV004244614]	uncertain significance\|not provided	20	46588104	46588104	Human		name
8637343	CV92569	single nucleotide variant	NM_001011554.2(SLC13A3):c.576C>T (p.Pro192=)	Malignant melanoma [RCV000072667]	not provided	20	46596234	46596234	Human		name
8637340	CV92566	single nucleotide variant	NM_001011554.2(SLC13A3):c.1572C>T (p.Phe524=)	Malignant melanoma [RCV000072664]	not provided	20	46560118	46560118	Human		name
8637341	CV92567	single nucleotide variant	NM_001011554.2(SLC13A3):c.1342C>T (p.Leu448=)	Malignant melanoma [RCV000072665]	not provided	20	46566240	46566240	Human		name
8637344	CV92570	single nucleotide variant	NM_001011554.2(SLC13A3):c.575C>T (p.Pro192Leu)	Malignant melanoma [RCV000072668]	not provided	20	46596235	46596235	Human		name
156344157	CV2186170	deletion	NM_022829.6(SLC13A3):c.1033_1035del (p.Val345del)	not provided [RCV003047918]	uncertain significance	20	46588145	46588147	Human		name
404981748	CV2986225	deletion	NM_022829.6(SLC13A3):c.1167_1169del (p.Leu389del)	not provided [RCV003691323]	uncertain significance	20	46583622	46583624	Human		name
156331394	CV2075728	microsatellite	NM_022829.6(SLC13A3):c.15AGC[3] (p.Ala8_Lys9insAla)	not provided [RCV002835320]	uncertain significance	20	46651401	46651402	Human		name

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