Slc19a3 Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)

692 records found for search term Slc19a3

Refine Term:

Assembly:

Chr

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8558154	CV19606	duplication	SLC19A3, 1-BP DUP, 74T	Biotin-responsive basal ganglia disease [RCV000004829]	pathogenic				Human		name
8558153	CV19603	single nucleotide variant	SLC19A3, IVS3AS, A-G, -14	Biotin-responsive basal ganglia disease [RCV000004826]	pathogenic				Human		name
10052854	CV195428	single nucleotide variant	NM_025243.4(SLC19A3):c.*8G>A	Biotin-responsive basal ganglia disease [RCV000319079]\|not provided [RCV000724036]\|not specified [RCV000198795]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	227687389	227687389	Human	1	name
12846581	CV366470	single nucleotide variant	NM_025243.4(SLC19A3):c.-6G>T	not specified [RCV000441927]	likely benign	2	227717946	227717946	Human		name
21067930	CV792971	single nucleotide variant	NM_025243.4(SLC19A3):c.*8G>T	not provided [RCV000992995]	conflicting interpretations of pathogenicity\|uncertain significance	2	227687389	227687389	Human		name
11591809	CV285194	single nucleotide variant	NM_025243.4(SLC19A3):c.-52T>C	Biotin-responsive basal ganglia disease [RCV000332399]	uncertain significance	2	227717992	227717992	Human	1	name
11596447	CV288157	single nucleotide variant	NM_025243.4(SLC19A3):c.-60C>T	Biotin-responsive basal ganglia disease [RCV000382302]	likely benign\|uncertain significance	2	227718000	227718000	Human	1	name
11644510	CV288568	single nucleotide variant	NM_025243.4(SLC19A3):c.*33A>G	Biotin-responsive basal ganglia disease [RCV000260346]	uncertain significance	2	227687364	227687364	Human	1	name
28893682	CV884080	single nucleotide variant	NM_025243.4(SLC19A3):c.*59T>C	Biotin-responsive basal ganglia disease [RCV001140230]	uncertain significance	2	227687338	227687338	Human	1	name
11595850	CV285164	deletion	NM_025243.4(SLC19A3):c.*977del	Thiamine Metabolism Dysfunction Syndrome [RCV000375676]	uncertain significance	2	227686420	227686420	Human		name
11583701	CV285169	single nucleotide variant	NM_025243.4(SLC19A3):c.*203C>T	Biotin-responsive basal ganglia disease [RCV000268537]\|not provided [RCV001613087]	benign	2	227687194	227687194	Human	1	name
11655166	CV285179	single nucleotide variant	NM_025243.4(SLC19A3):c.*176A>G	Biotin-responsive basal ganglia disease [RCV000323578]	uncertain significance	2	227687221	227687221	Human	1	name
11659142	CV285184	single nucleotide variant	NM_025243.4(SLC19A3):c.*106A>G	Biotin-responsive basal ganglia disease [RCV000355178]	uncertain significance	2	227687291	227687291	Human	1	name
11593695	CV285811	single nucleotide variant	NM_025243.4(SLC19A3):c.*575G>A	Biotin-responsive basal ganglia disease [RCV000351192]	uncertain significance	2	227686822	227686822	Human	1	name
11597950	CV285824	single nucleotide variant	NM_025243.4(SLC19A3):c.*506C>T	Biotin-responsive basal ganglia disease [RCV000399647]	benign\|likely benign	2	227686891	227686891	Human	1	name
11588931	CV285826	single nucleotide variant	NM_025243.4(SLC19A3):c.*499C>T	Biotin-responsive basal ganglia disease [RCV000306964]	likely benign\|uncertain significance	2	227686898	227686898	Human	1	name
11595093	CV285829	single nucleotide variant	NM_025243.4(SLC19A3):c.*348A>C	Biotin-responsive basal ganglia disease [RCV000366580]	likely benign\|uncertain significance	2	227687049	227687049	Human	1	name
11585473	CV288138	single nucleotide variant	NM_025243.4(SLC19A3):c.*803G>A	Biotin-responsive basal ganglia disease [RCV000281126]	benign\|likely benign	2	227686594	227686594	Human	1	name
11663871	CV288140	single nucleotide variant	NM_025243.4(SLC19A3):c.*685G>A	Biotin-responsive basal ganglia disease [RCV000400373]	uncertain significance	2	227686712	227686712	Human	1	name
11664675	CV288142	single nucleotide variant	NM_025243.4(SLC19A3):c.*300G>A	Biotin-responsive basal ganglia disease [RCV000407852]	uncertain significance	2	227687097	227687097	Human	1	name
11594349	CV288147	single nucleotide variant	NM_025243.4(SLC19A3):c.*204G>A	Biotin-responsive basal ganglia disease [RCV000358432]	uncertain significance	2	227687193	227687193	Human	1	name
11658614	CV288564	single nucleotide variant	NM_025243.4(SLC19A3):c.*778G>C	Biotin-responsive basal ganglia disease [RCV000350284]	uncertain significance	2	227686619	227686619	Human	1	name
11588503	CV288565	single nucleotide variant	NM_025243.4(SLC19A3):c.*231G>A	Biotin-responsive basal ganglia disease [RCV000303603]\|not provided [RCV004710880]	likely benign\|uncertain significance	2	227687166	227687166	Human	1	name
28902846	CV884073	single nucleotide variant	NM_025243.4(SLC19A3):c.*975G>T	Biotin-responsive basal ganglia disease [RCV001143767]\|not provided [RCV004711537]	likely benign	2	227686422	227686422	Human	1	name
28902850	CV884074	single nucleotide variant	NM_025243.4(SLC19A3):c.*924C>T	Biotin-responsive basal ganglia disease [RCV001143768]	uncertain significance	2	227686473	227686473	Human	1	name
28884379	CV884075	single nucleotide variant	NM_025243.4(SLC19A3):c.*713C>T	Biotin-responsive basal ganglia disease [RCV001137211]	uncertain significance	2	227686684	227686684	Human	1	name
28884387	CV884076	single nucleotide variant	NM_025243.4(SLC19A3):c.*570T>A	Biotin-responsive basal ganglia disease [RCV001137212]	uncertain significance	2	227686827	227686827	Human	1	name
28891597	CV884077	single nucleotide variant	NM_025243.4(SLC19A3):c.*289A>G	Biotin-responsive basal ganglia disease [RCV001139457]	uncertain significance	2	227687108	227687108	Human	1	name
28891603	CV884078	single nucleotide variant	NM_025243.4(SLC19A3):c.*115C>G	Biotin-responsive basal ganglia disease [RCV001139458]	benign	2	227687282	227687282	Human	1	name
28893681	CV884079	single nucleotide variant	NM_025243.4(SLC19A3):c.*103C>A	Biotin-responsive basal ganglia disease [RCV001140229]\|not provided [RCV001586001]	benign\|likely benign	2	227687294	227687294	Human	1	name
150438889	CV1221229	deletion	NM_025243.4(SLC19A3):c.-2-76del	not provided [RCV001609923]\|not specified [RCV004594401]	benign	2	227702396	227702396	Human		name
150450287	CV1275789	single nucleotide variant	NM_025243.4(SLC19A3):c.-2-62G>A	not provided [RCV001708244]\|not specified [RCV004594536]	benign	2	227702382	227702382	Human		name
8692859	CV142825	single nucleotide variant	NM_025243.4(SLC19A3):c.-2-10A>G	Biotin-responsive basal ganglia disease [RCV000277249]\|not provided [RCV004708052]\|not specified [RCV000128056]	benign\|likely benign	2	227702330	227702330	Human	7	name
8692859	CV142825	single nucleotide variant	NM_025243.4(SLC19A3):c.-2-10A>G	Biotin-responsive basal ganglia disease [RCV000277249]\|not provided [RCV004708052]\|not specified [RCV000128056]	benign\|likely benign	2	227702330	227702331	Human	7	name
151834973	CV1446926	single nucleotide variant	NM_025243.4(SLC19A3):c.151-5T>G	Biotin-responsive basal ganglia disease [RCV002031188]	uncertain significance	2	227699569	227699569	Human	1	name
152029274	CV1555728	single nucleotide variant	NM_025243.4(SLC19A3):c.980-8T>C	Biotin-responsive basal ganglia disease [RCV002186109]	likely benign	2	227696089	227696089	Human	1	name
156245619	CV2044711	single nucleotide variant	NM_025243.4(SLC19A3):c.151-1G>C	Biotin-responsive basal ganglia disease [RCV002805831]	likely pathogenic	2	227699565	227699565	Human	1	name
156263375	CV2100779	single nucleotide variant	NM_025243.4(SLC19A3):c.980-9T>G	Biotin-responsive basal ganglia disease [RCV002877350]	likely benign	2	227696090	227696090	Human	1	name
10411542	CV210790	deletion	NM_025243.4(SLC19A3):c.980-4del	Biotin-responsive basal ganglia disease [RCV000987049]\|Thiamine Metabolism Dysfunction Syndrome [RCV000345647]\|not provided [RCV000676550]\|not specified [RCV000200477]	pathogenic\|benign	2	227696085	227696085	Human	1	name
156052606	CV2141078	single nucleotide variant	NM_025243.4(SLC19A3):c.151-7T>C	Biotin-responsive basal ganglia disease [RCV002999924]	likely benign	2	227699571	227699571	Human	1	name
11595328	CV285141	single nucleotide variant	NM_025243.4(SLC19A3):c.*2109C>T	Biotin-responsive basal ganglia disease [RCV000369211]\|not provided [RCV004708535]	benign	2	227685288	227685288	Human	1	name
11656507	CV285142	single nucleotide variant	NM_025243.4(SLC19A3):c.*2033A>G	Biotin-responsive basal ganglia disease [RCV000334047]	uncertain significance	2	227685364	227685364	Human	1	name
11596990	CV285144	single nucleotide variant	NM_025243.4(SLC19A3):c.*1996T>C	Biotin-responsive basal ganglia disease [RCV000388566]\|not provided [RCV004708536]	benign	2	227685401	227685401	Human	1	name
11584028	CV285146	single nucleotide variant	NM_025243.4(SLC19A3):c.*1974G>T	Biotin-responsive basal ganglia disease [RCV000270767]\|not provided [RCV004708537]	benign	2	227685423	227685423	Human	1	name
11587699	CV285147	single nucleotide variant	NM_025243.4(SLC19A3):c.*1813A>G	Biotin-responsive basal ganglia disease [RCV001094629]\|Thiamine Metabolism Dysfunction Syndrome [RCV000297242]\|not provided [RCV004708541]	benign	2	227685584	227685584	Human	1	name
11598106	CV285155	single nucleotide variant	NM_025243.4(SLC19A3):c.*1740G>C	Biotin-responsive basal ganglia disease [RCV000401462]\|not provided [RCV004709906]	benign	2	227685657	227685657	Human	1	name
11589676	CV285157	single nucleotide variant	NM_025243.4(SLC19A3):c.*1696G>T	Biotin-responsive basal ganglia disease [RCV000312416]	benign\|likely benign	2	227685701	227685701	Human	1	name
11594860	CV285160	single nucleotide variant	NM_025243.4(SLC19A3):c.*1339C>T	Biotin-responsive basal ganglia disease [RCV000363787]	uncertain significance	2	227686058	227686058	Human	1	name
11662155	CV285162	single nucleotide variant	NM_025243.4(SLC19A3):c.*1104T>C	Biotin-responsive basal ganglia disease [RCV000383059]	uncertain significance	2	227686293	227686293	Human	1	name
11649119	CV285163	single nucleotide variant	NM_025243.4(SLC19A3):c.*1003G>T	Biotin-responsive basal ganglia disease [RCV000285407]	uncertain significance	2	227686394	227686394	Human	1	name
11588567	CV285777	single nucleotide variant	NM_025243.4(SLC19A3):c.*2132T>C	Biotin-responsive basal ganglia disease [RCV000303833]\|not provided [RCV004708533]	benign	2	227685265	227685265	Human	1	name
11582367	CV285787	single nucleotide variant	NM_025243.4(SLC19A3):c.*2130T>C	Biotin-responsive basal ganglia disease [RCV000259238]\|not provided [RCV004708534]	benign	2	227685267	227685267	Human	1	name
11591105	CV285788	single nucleotide variant	NM_025243.4(SLC19A3):c.*1963C>T	Biotin-responsive basal ganglia disease [RCV000325716]\|not provided [RCV004708538]	benign	2	227685434	227685434	Human	1	name
11595156	CV285789	single nucleotide variant	NM_025243.4(SLC19A3):c.*1684A>G	Biotin-responsive basal ganglia disease [RCV000367272]\|not provided [RCV004708542]	benign	2	227685713	227685713	Human	1	name
11661788	CV285806	single nucleotide variant	NM_025243.4(SLC19A3):c.*1059C>G	Biotin-responsive basal ganglia disease [RCV000379878]	uncertain significance	2	227686338	227686338	Human	1	name
11592112	CV285808	single nucleotide variant	NM_025243.4(SLC19A3):c.*1000A>G	Biotin-responsive basal ganglia disease [RCV000335774]\|not provided [RCV004708545]	benign	2	227686397	227686397	Human	1	name
11597310	CV288113	single nucleotide variant	NM_025243.4(SLC19A3):c.*2139G>A	Biotin-responsive basal ganglia disease [RCV000392660]	uncertain significance	2	227685258	227685258	Human	1	name
11596658	CV288115	single nucleotide variant	NM_025243.4(SLC19A3):c.*1953G>A	Biotin-responsive basal ganglia disease [RCV000384981]\|not provided [RCV004708539]	benign	2	227685444	227685444	Human	1	name
11586849	CV288116	single nucleotide variant	NM_025243.4(SLC19A3):c.*1925A>G	Biotin-responsive basal ganglia disease [RCV000290664]	benign\|likely benign	2	227685472	227685472	Human	1	name
11595958	CV288117	single nucleotide variant	NM_025243.4(SLC19A3):c.*1818T>A	Biotin-responsive basal ganglia disease [RCV000376681]	uncertain significance	2	227685579	227685579	Human	1	name
11586312	CV288120	single nucleotide variant	NM_025243.4(SLC19A3):c.*1815A>C	Biotin-responsive basal ganglia disease [RCV001094628]\|Thiamine Metabolism Dysfunction Syndrome [RCV000286925]\|not provided [RCV004708540]	benign	2	227685582	227685582	Human	1	name
11584921	CV288122	single nucleotide variant	NM_025243.4(SLC19A3):c.*1517T>C	Biotin-responsive basal ganglia disease [RCV000277331]	uncertain significance	2	227685880	227685880	Human	1	name
11583303	CV288129	single nucleotide variant	NM_025243.4(SLC19A3):c.*1090G>A	Biotin-responsive basal ganglia disease [RCV000265590]\|not provided [RCV004708544]	benign	2	227686307	227686307	Human	1	name
11587817	CV288493	single nucleotide variant	NM_025243.4(SLC19A3):c.*2129A>G	Biotin-responsive basal ganglia disease [RCV000298101]	uncertain significance	2	227685268	227685268	Human	1	name
11584522	CV288511	single nucleotide variant	NM_025243.4(SLC19A3):c.*2104T>C	Biotin-responsive basal ganglia disease [RCV000274322]	benign\|likely benign	2	227685293	227685293	Human	1	name
11592666	CV288516	single nucleotide variant	NM_025243.4(SLC19A3):c.*1839G>A	Biotin-responsive basal ganglia disease [RCV000340885]\|not provided [RCV004709905]	benign	2	227685558	227685558	Human	1	name
11592401	CV288535	single nucleotide variant	NM_025243.4(SLC19A3):c.*1792C>T	Biotin-responsive basal ganglia disease [RCV000338152]	benign\|uncertain significance	2	227685605	227685605	Human	1	name
11589820	CV288536	single nucleotide variant	NM_025243.4(SLC19A3):c.*1427T>C	Biotin-responsive basal ganglia disease [RCV000313794]\|not provided [RCV004708543]	benign	2	227685970	227685970	Human	1	name
11583735	CV288537	single nucleotide variant	NM_025243.4(SLC19A3):c.*1320C>T	Biotin-responsive basal ganglia disease [RCV000268657]	uncertain significance	2	227686077	227686077	Human	1	name
11591365	CV288538	single nucleotide variant	NM_025243.4(SLC19A3):c.*1121G>A	Biotin-responsive basal ganglia disease [RCV000328452]	uncertain significance	2	227686276	227686276	Human	1	name
11654794	CV288540	single nucleotide variant	NM_025243.4(SLC19A3):c.*1072A>C	Biotin-responsive basal ganglia disease [RCV000320656]	uncertain significance	2	227686325	227686325	Human	1	name
402483706	CV2929909	single nucleotide variant	NM_025243.4(SLC19A3):c.979+8A>C	Biotin-responsive basal ganglia disease [RCV003503967]	likely benign	2	227698728	227698728	Human	1	name
597636935	CV3716830	single nucleotide variant	NM_025243.4(SLC19A3):c.151-2A>G	Biotin-responsive basal ganglia disease [RCV005024333]	likely pathogenic	2	227699566	227699566	Human	1	name
597964269	CV3792191	single nucleotide variant	NM_025243.4(SLC19A3):c.980-7T>C	Biotin-responsive basal ganglia disease [RCV005139749]	likely benign	2	227696088	227696088	Human	1	name
597968789	CV3821250	single nucleotide variant	NM_025243.4(SLC19A3):c.151-6T>C	Biotin-responsive basal ganglia disease [RCV005165892]	likely benign	2	227699570	227699570	Human	1	name
597896230	CV3854023	single nucleotide variant	NM_025243.4(SLC19A3):c.151-8C>T	Biotin-responsive basal ganglia disease [RCV005201307]	likely benign	2	227699572	227699572	Human	1	name
13525408	CV499567	single nucleotide variant	NM_025243.4(SLC19A3):c.979+9A>G	Biotin-responsive basal ganglia disease [RCV002529480]\|not specified [RCV000603125]	likely benign	2	227698727	227698727	Human	1	name
28891045	CV884057	single nucleotide variant	NM_025243.4(SLC19A3):c.*2159G>A	Biotin-responsive basal ganglia disease [RCV001139242]	uncertain significance	2	227685238	227685238	Human	1	name
28898159	CV884058	single nucleotide variant	NM_025243.4(SLC19A3):c.*2050C>T	Biotin-responsive basal ganglia disease [RCV001141861]	uncertain significance	2	227685347	227685347	Human	1	name
28902614	CV884059	single nucleotide variant	NM_025243.4(SLC19A3):c.*1995G>A	Biotin-responsive basal ganglia disease [RCV001143657]	likely benign	2	227685402	227685402	Human	1	name
28902617	CV884060	single nucleotide variant	NM_025243.4(SLC19A3):c.*1905G>A	Biotin-responsive basal ganglia disease [RCV001143658]	uncertain significance	2	227685492	227685492	Human	1	name
28902620	CV884061	single nucleotide variant	NM_025243.4(SLC19A3):c.*1889T>C	Biotin-responsive basal ganglia disease [RCV001143659]	uncertain significance	2	227685508	227685508	Human	1	name
28884026	CV884062	single nucleotide variant	NM_025243.4(SLC19A3):c.*1859C>T	Biotin-responsive basal ganglia disease [RCV001137095]	likely benign	2	227685538	227685538	Human	1	name
28884030	CV884063	single nucleotide variant	NM_025243.4(SLC19A3):c.*1842T>A	Biotin-responsive basal ganglia disease [RCV001137096]	uncertain significance	2	227685555	227685555	Human	1	name
28884034	CV884064	single nucleotide variant	NM_025243.4(SLC19A3):c.*1800C>T	Biotin-responsive basal ganglia disease [RCV001137097]\|not provided [RCV004709030]	benign	2	227685597	227685597	Human	1	name
28891281	CV884065	single nucleotide variant	NM_025243.4(SLC19A3):c.*1630G>T	Biotin-responsive basal ganglia disease [RCV001139338]	uncertain significance	2	227685767	227685767	Human	1	name
28891285	CV884066	single nucleotide variant	NM_025243.4(SLC19A3):c.*1463G>A	Biotin-responsive basal ganglia disease [RCV001139339]	uncertain significance	2	227685934	227685934	Human	1	name
28891289	CV884067	single nucleotide variant	NM_025243.4(SLC19A3):c.*1355G>A	Biotin-responsive basal ganglia disease [RCV001139340]	uncertain significance	2	227686042	227686042	Human	1	name
28898385	CV884068	single nucleotide variant	NM_025243.4(SLC19A3):c.*1264A>G	Biotin-responsive basal ganglia disease [RCV001141961]	uncertain significance	2	227686133	227686133	Human	1	name
28898388	CV884069	single nucleotide variant	NM_025243.4(SLC19A3):c.*1256C>T	Biotin-responsive basal ganglia disease [RCV001141962]	uncertain significance	2	227686141	227686141	Human	1	name
28898391	CV884070	single nucleotide variant	NM_025243.4(SLC19A3):c.*1207C>T	Biotin-responsive basal ganglia disease [RCV001141963]	uncertain significance	2	227686190	227686190	Human	1	name
28898394	CV884071	single nucleotide variant	NM_025243.4(SLC19A3):c.*1094C>T	Biotin-responsive basal ganglia disease [RCV001141964]\|not provided [RCV004711533]	likely benign	2	227686303	227686303	Human	1	name
28902843	CV884072	single nucleotide variant	NM_025243.4(SLC19A3):c.*1044G>A	Biotin-responsive basal ganglia disease [RCV001143766]	uncertain significance	2	227686353	227686353	Human	1	name
28893926	CV887306	single nucleotide variant	NM_025243.4(SLC19A3):c.-2-11C>A	Biotin-responsive basal ganglia disease [RCV001140322]	uncertain significance	2	227702331	227702331	Human	1	name
38476556	CV940701	single nucleotide variant	NM_025243.4(SLC19A3):c.150+2T>C	Biotin-responsive basal ganglia disease [RCV001215703]	likely pathogenic	2	227702167	227702167	Human	1	name
127292109	CV1112461	single nucleotide variant	NM_025243.4(SLC19A3):c.1314+9C>T	Biotin-responsive basal ganglia disease [RCV001476240]	likely benign	2	227688157	227688157	Human	1	name
150331906	CV1168897	duplication	NM_025243.4(SLC19A3):c.980-40dup	not provided [RCV001536676]\|not specified [RCV004594319]	benign	2	227696118	227696119	Human		name
150413947	CV1176119	single nucleotide variant	NM_025243.4(SLC19A3):c.151-36G>T	not provided [RCV001547953]	likely benign	2	227699600	227699600	Human		name
150413822	CV1189829	single nucleotide variant	NM_025243.4(SLC19A3):c.980-46G>T	not provided [RCV001567323]	likely benign	2	227696127	227696127	Human		name
150479854	CV1207904	single nucleotide variant	NM_025243.4(SLC19A3):c.-3+142T>G	not provided [RCV001590180]	likely benign	2	227717801	227717801	Human		name
150439100	CV1274913	single nucleotide variant	NM_025243.4(SLC19A3):c.980-10T>C	Biotin-responsive basal ganglia disease [RCV003611554]\|not provided [RCV001703254]	likely benign	2	227696091	227696091	Human	1	name
151809920	CV1363036	single nucleotide variant	NM_025243.4(SLC19A3):c.1314+3A>G	Biotin-responsive basal ganglia disease [RCV001991723]	uncertain significance	2	227688163	227688163	Human	1	name
151749749	CV1380976	single nucleotide variant	NM_025243.4(SLC19A3):c.150+19A>G	Biotin-responsive basal ganglia disease [RCV002023255]	likely benign\|uncertain significance	2	227702150	227702150	Human	1	name
151723233	CV1414121	single nucleotide variant	NM_025243.4(SLC19A3):c.1172+2T>G	Biotin-responsive basal ganglia disease [RCV002020467]	pathogenic\|likely pathogenic	2	227695887	227695887	Human	1	name
156292511	CV1887182	single nucleotide variant	NM_025243.4(SLC19A3):c.980-19C>T	Biotin-responsive basal ganglia disease [RCV003087544]	likely benign	2	227696100	227696100	Human	1	name
156138700	CV1911255	single nucleotide variant	NM_025243.4(SLC19A3):c.151-20G>C	Biotin-responsive basal ganglia disease [RCV002623575]	likely benign	2	227699584	227699584	Human	1	name
156406692	CV1917828	single nucleotide variant	NM_025243.4(SLC19A3):c.151-17A>G	Biotin-responsive basal ganglia disease [RCV002606675]	likely benign\|uncertain significance	2	227699581	227699581	Human	1	name
156019553	CV2081336	single nucleotide variant	NM_025243.4(SLC19A3):c.979+15C>G	Biotin-responsive basal ganglia disease [RCV002866536]	likely benign	2	227698721	227698721	Human	1	name
10410627	CV210791	single nucleotide variant	NM_025243.4(SLC19A3):c.979+19A>G	Biotin-responsive basal ganglia disease [RCV002054341]\|not provided [RCV004709383]\|not specified [RCV000198560]	benign	2	227698717	227698717	Human	1	name
11560021	CV259733	single nucleotide variant	NM_025243.4(SLC19A3):c.1314+1G>A	Biotin-responsive basal ganglia disease [RCV001368943]\|not provided [RCV000255502]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	2	227688165	227688165	Human	1	name
402483869	CV2890809	single nucleotide variant	NM_025243.4(SLC19A3):c.980-10T>G	Biotin-responsive basal ganglia disease [RCV003504486]	likely benign	2	227696091	227696091	Human	1	name
402483164	CV2904518	single nucleotide variant	NM_025243.4(SLC19A3):c.1173-8A>G	Biotin-responsive basal ganglia disease [RCV003502383]	likely benign	2	227688315	227688315	Human	1	name
402483481	CV2921787	single nucleotide variant	NM_025243.4(SLC19A3):c.1173-1G>A	Biotin-responsive basal ganglia disease [RCV003503210]	likely pathogenic	2	227688308	227688308	Human	1	name
402483510	CV2922562	single nucleotide variant	NM_025243.4(SLC19A3):c.150+11A>G	Biotin-responsive basal ganglia disease [RCV003503365]	likely benign	2	227702158	227702158	Human	1	name
405030461	CV2970399	single nucleotide variant	NM_025243.4(SLC19A3):c.980-15A>G	Biotin-responsive basal ganglia disease [RCV003612520]	likely benign	2	227696096	227696096	Human	1	name
405030524	CV2975262	single nucleotide variant	NM_025243.4(SLC19A3):c.1314+7T>C	Biotin-responsive basal ganglia disease [RCV003612625]	likely benign	2	227688159	227688159	Human	1	name
405031834	CV3065357	single nucleotide variant	NM_025243.4(SLC19A3):c.980-14A>T	Biotin-responsive basal ganglia disease [RCV003612175]	likely benign	2	227696095	227696095	Human	1	name
405232625	CV3144915	single nucleotide variant	NM_025243.4(SLC19A3):c.979+10T>C	Biotin-responsive basal ganglia disease [RCV003853172]	likely benign	2	227698726	227698726	Human	1	name
405208988	CV3162541	single nucleotide variant	NM_025243.4(SLC19A3):c.1173-6T>C	Biotin-responsive basal ganglia disease [RCV003861840]	likely benign	2	227688313	227688313	Human	1	name
405090927	CV3167783	single nucleotide variant	NM_025243.4(SLC19A3):c.150+15A>G	Biotin-responsive basal ganglia disease [RCV003852173]	likely benign	2	227702154	227702154	Human	1	name
405253573	CV3178555	single nucleotide variant	NM_025243.4(SLC19A3):c.979+11G>A	Biotin-responsive basal ganglia disease [RCV003871156]	likely benign	2	227698725	227698725	Human	1	name
597918100	CV3789677	single nucleotide variant	NM_025243.4(SLC19A3):c.1315-5T>C	Biotin-responsive basal ganglia disease [RCV005129772]	likely benign	2	227687578	227687578	Human	1	name
598202074	CV3892937	single nucleotide variant	NM_025243.4(SLC19A3):c.1172+5G>C	Biotin-responsive basal ganglia disease [RCV005255263]	likely pathogenic	2	227695884	227695884	Human	1	name
13462638	CV439310	single nucleotide variant	NM_025243.4(SLC19A3):c.980-14A>G	Biotin-responsive basal ganglia disease [RCV000697912]\|not provided [RCV000514518]	pathogenic\|likely pathogenic	2	227696095	227696095	Human	1	name
13516587	CV489915	single nucleotide variant	NM_025243.4(SLC19A3):c.1173-4A>T	Biotin-responsive basal ganglia disease [RCV001085436]\|Inborn genetic diseases [RCV002532420]\|not provided [RCV000595717]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	227688311	227688311	Human	2	name
13536072	CV499564	single nucleotide variant	NM_025243.4(SLC19A3):c.979+15C>T	Biotin-responsive basal ganglia disease [RCV003502542]\|not specified [RCV000608470]	likely benign	2	227698721	227698721	Human	1	name
13609543	CV517939	single nucleotide variant	NM_025243.4(SLC19A3):c.1172+9T>A	Biotin-responsive basal ganglia disease [RCV000640716]	likely benign	2	227695880	227695880	Human	1	name
14708312	CV650918	single nucleotide variant	NM_025243.4(SLC19A3):c.1173-4A>G	Biotin-responsive basal ganglia disease [RCV000809256]	likely benign\|uncertain significance	2	227688311	227688311	Human	1	name
14719515	CV658888	single nucleotide variant	NM_025243.4(SLC19A3):c.-2-224G>T	not provided [RCV000830812]	benign	2	227702544	227702544	Human		name
14730603	CV658956	single nucleotide variant	NM_025243.4(SLC19A3):c.979+93G>A	not provided [RCV000835759]	benign	2	227698643	227698643	Human		name
14724457	CV658964	single nucleotide variant	NM_025243.4(SLC19A3):c.979+42G>C	not provided [RCV000832990]	benign	2	227698694	227698694	Human		name
15123715	CV774766	single nucleotide variant	NM_025243.4(SLC19A3):c.1315-4C>A	Biotin-responsive basal ganglia disease [RCV001431936]\|SLC19A3-related disorder [RCV003970621]	likely benign	2	227687577	227687577	Human	1	name , trait , alternate_id
15201579	CV774771	single nucleotide variant	NM_025243.4(SLC19A3):c.1315-7T>C	Biotin-responsive basal ganglia disease [RCV001462220]	likely benign	2	227687580	227687580	Human	1	name
21068055	CV795185	single nucleotide variant	NM_025243.4(SLC19A3):c.1173-7A>G	not provided [RCV000997692]	uncertain significance	2	227688314	227688314	Human		name
40889816	CV975031	single nucleotide variant	NM_025243.4(SLC19A3):c.1172+1G>A	Biotin-responsive basal ganglia disease [RCV003502593]\|not provided [RCV001268291]	pathogenic\|likely pathogenic	2	227695888	227695888	Human	1	name
126732228	CV1000326	single nucleotide variant	NM_025243.4(SLC19A3):c.-2-3996A>T	not provided [RCV001310777]	likely benign	2	227706316	227706316	Human		name
150405791	CV1193101	single nucleotide variant	NM_025243.4(SLC19A3):c.979+292G>A	not provided [RCV001571788]	likely benign	2	227698444	227698444	Human		name
150431058	CV1206223	single nucleotide variant	NM_025243.4(SLC19A3):c.1315-64G>A	not provided [RCV001580871]	likely benign	2	227687637	227687637	Human		name
150469166	CV1207527	single nucleotide variant	NM_025243.4(SLC19A3):c.150+233G>A	not provided [RCV001588216]	likely benign	2	227701936	227701936	Human		name
152084462	CV1537545	single nucleotide variant	NM_025243.4(SLC19A3):c.1314+11A>G	Biotin-responsive basal ganglia disease [RCV002149738]	likely benign	2	227688155	227688155	Human	1	name
152090488	CV1581813	single nucleotide variant	NM_025243.4(SLC19A3):c.1314+20T>C	Biotin-responsive basal ganglia disease [RCV002077642]	likely benign	2	227688146	227688146	Human	1	name
156109726	CV2038703	single nucleotide variant	NM_025243.4(SLC19A3):c.1173-19T>A	Biotin-responsive basal ganglia disease [RCV002761642]	likely benign	2	227688326	227688326	Human	1	name
402483568	CV2855514	single nucleotide variant	NM_025243.4(SLC19A3):c.1173-17T>C	Biotin-responsive basal ganglia disease [RCV003503465]	likely benign	2	227688324	227688324	Human	1	name
11590041	CV285810	microsatellite	NM_025243.4(SLC19A3):c.*591ATT[2]	Thiamine Metabolism Dysfunction Syndrome [RCV000315040]	uncertain significance	2	227686798	227686800	Human		name
402483441	CV2920335	single nucleotide variant	NM_025243.4(SLC19A3):c.1315-14T>C	Biotin-responsive basal ganglia disease [RCV003503074]	likely benign	2	227687587	227687587	Human	1	name
405031969	CV2957275	single nucleotide variant	NM_025243.4(SLC19A3):c.1315-16A>G	Biotin-responsive basal ganglia disease [RCV003611869]	likely benign	2	227687589	227687589	Human	1	name
405029993	CV3032555	single nucleotide variant	NM_025243.4(SLC19A3):c.1172+14A>G	Biotin-responsive basal ganglia disease [RCV003611208]	likely benign	2	227695875	227695875	Human	1	name
405030105	CV3054060	single nucleotide variant	NM_025243.4(SLC19A3):c.1173-14A>G	Biotin-responsive basal ganglia disease [RCV003611377]	likely benign	2	227688321	227688321	Human	1	name
405030662	CV3076356	single nucleotide variant	NM_025243.4(SLC19A3):c.1173-12G>A	Biotin-responsive basal ganglia disease [RCV003612359]	likely benign	2	227688319	227688319	Human	1	name
407428909	CV3414072	single nucleotide variant	NM_025243.4(SLC19A3):c.-2-4439G>A	not specified [RCV004594010]	benign	2	227706759	227706759	Human		name
407455459	CV3415576	single nucleotide variant	NM_025243.4(SLC19A3):c.-2-4020G>A	not specified [RCV004598459]	benign	2	227706340	227706340	Human		name
14725522	CV658734	single nucleotide variant	NM_025243.4(SLC19A3):c.980-246G>A	not provided [RCV000833476]	benign	2	227696327	227696327	Human		name
14746065	CV658742	single nucleotide variant	NM_025243.4(SLC19A3):c.979+213G>A	not provided [RCV000844042]	benign	2	227698523	227698523	Human		name
14723408	CV658744	single nucleotide variant	NM_025243.4(SLC19A3):c.979+182A>G	not provided [RCV000832521]	benign	2	227698554	227698554	Human		name
14746063	CV658746	single nucleotide variant	NM_025243.4(SLC19A3):c.151-311T>A	not provided [RCV000844040]	benign	2	227699875	227699875	Human		name
14724334	CV658862	single nucleotide variant	NM_025243.4(SLC19A3):c.1173-47C>T	not provided [RCV000832937]	benign	2	227688354	227688354	Human		name
14724606	CV658867	single nucleotide variant	NM_025243.4(SLC19A3):c.980-205G>A	not provided [RCV000833061]	benign	2	227696286	227696286	Human		name
14723406	CV658868	single nucleotide variant	NM_025243.4(SLC19A3):c.150+203A>C	not provided [RCV000832520]	benign	2	227701966	227701966	Human		name
14724601	CV658871	single nucleotide variant	NM_025243.4(SLC19A3):c.150+198A>G	not provided [RCV000833058]	benign	2	227701971	227701971	Human		name
14724604	CV658879	single nucleotide variant	NM_025243.4(SLC19A3):c.980-235G>A	not provided [RCV000833060]	benign	2	227696316	227696316	Human		name
14731637	CV658886	single nucleotide variant	NM_025243.4(SLC19A3):c.979+105G>A	not provided [RCV000836222]	likely benign	2	227698631	227698631	Human		name
151662276	CV1178823	single nucleotide variant	NM_025243.4(SLC19A3):c.150+1143C>G	Spastic paraplegia [RCV001823787]\|not provided [RCV004692696]	uncertain significance	2	227701026	227701026	Human	2	name
150408875	CV1189828	single nucleotide variant	NM_025243.4(SLC19A3):c.1172+227A>G	not provided [RCV001565476]	likely benign	2	227695662	227695662	Human		name
407429657	CV3414044	single nucleotide variant	NM_025243.4(SLC19A3):c.150+1229C>T	not specified [RCV004595458]	benign	2	227700940	227700940	Human	3	name
14723411	CV658726	single nucleotide variant	NM_025243.4(SLC19A3):c.1172+273A>G	not provided [RCV000832522]	benign	2	227695616	227695616	Human		name
14724608	CV658732	single nucleotide variant	NM_025243.4(SLC19A3):c.1172+196A>T	not provided [RCV000833062]	benign	2	227695693	227695693	Human		name
14730606	CV658861	single nucleotide variant	NM_025243.4(SLC19A3):c.1314+121C>A	not provided [RCV000835760]	benign	2	227688045	227688045	Human		name
14724610	CV658864	single nucleotide variant	NM_025243.4(SLC19A3):c.1172+209A>G	not provided [RCV000833063]	benign	2	227695680	227695680	Human		name
14730609	CV658878	single nucleotide variant	NM_025243.4(SLC19A3):c.1315-123C>T	not provided [RCV000835761]	benign	2	227687696	227687696	Human		name
14746067	CV658950	single nucleotide variant	NM_025243.4(SLC19A3):c.1314+173G>A	not provided [RCV000844044]	benign	2	227687993	227687993	Human		name
405030016	CV3037261	deletion	NM_025243.4(SLC19A3):c.980-5_980-4del	Biotin-responsive basal ganglia disease [RCV003611297]	benign	2	227696085	227696086	Human	1	name
127333174	CV1133393	single nucleotide variant	NM_025243.4(SLC19A3):c.18T>C (p.Thr6=)	Biotin-responsive basal ganglia disease [RCV001489981]	likely benign	2	227702301	227702301	Human	1	name
405030925	CV3010557	single nucleotide variant	NM_025243.4(SLC19A3):c.21A>T (p.Ser7=)	Biotin-responsive basal ganglia disease [RCV003613393]	likely benign	2	227702298	227702298	Human	1	name
12838739	CV366469	single nucleotide variant	NM_025243.4(SLC19A3):c.18T>A (p.Thr6=)	Biotin-responsive basal ganglia disease [RCV000558668]\|SLC19A3-related disorder [RCV003902596]\|not provided [RCV001698181]	benign\|likely benign	2	227702301	227702301	Human	1	name , trait , alternate_id
597974406	CV3802158	single nucleotide variant	NM_025243.4(SLC19A3):c.12C>T (p.Tyr4=)	Biotin-responsive basal ganglia disease [RCV005143934]	likely benign	2	227702307	227702307	Human	1	name
15132534	CV781230	single nucleotide variant	NM_025243.4(SLC19A3):c.24A>T (p.Leu8=)	Biotin-responsive basal ganglia disease [RCV000981397]	likely benign	2	227702295	227702295	Human	1	name
127262989	CV1090961	single nucleotide variant	NM_025243.4(SLC19A3):c.78C>G (p.Ser26=)	Biotin-responsive basal ganglia disease [RCV001428468]	likely benign	2	227702241	227702241	Human	1	name
8660699	CV135769	single nucleotide variant	NM_025243.4(SLC19A3):c.42C>T (p.Tyr14=)	Biotin-responsive basal ganglia disease [RCV001084177]\|not provided [RCV000713317]\|not specified [RCV000118360]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	227702277	227702277	Human	1	name
152145363	CV1543268	single nucleotide variant	NM_025243.4(SLC19A3):c.54C>T (p.Ile18=)	Biotin-responsive basal ganglia disease [RCV002178642]	likely benign	2	227702265	227702265	Human	1	name
152133004	CV1544740	single nucleotide variant	NM_025243.4(SLC19A3):c.78C>T (p.Ser26=)	Biotin-responsive basal ganglia disease [RCV002177050]	likely benign	2	227702241	227702241	Human	1	name
11580369	CV285185	single nucleotide variant	NM_025243.4(SLC19A3):c.99A>G (p.Pro33=)	Biotin-responsive basal ganglia disease [RCV000556824]\|not provided [RCV001718708]	benign\|likely benign\|uncertain significance	2	227702220	227702220	Human	1	name
402483360	CV2857235	single nucleotide variant	NM_025243.4(SLC19A3):c.1A>C (p.Met1Leu)	Biotin-responsive basal ganglia disease [RCV003502762]	likely pathogenic	2	227702318	227702318	Human	1	name
402483114	CV2895297	single nucleotide variant	NM_025243.4(SLC19A3):c.45C>G (p.Pro15=)	Biotin-responsive basal ganglia disease [RCV003502081]	likely benign	2	227702274	227702274	Human	1	name
402483194	CV2908784	duplication	NM_025243.4(SLC19A3):c.980-21_980-17dup	Biotin-responsive basal ganglia disease [RCV003502502]	likely benign	2	227696097	227696098	Human	1	name
405030818	CV3003148	single nucleotide variant	NM_025243.4(SLC19A3):c.63A>G (p.Leu21=)	Biotin-responsive basal ganglia disease [RCV003613165]	likely benign	2	227702256	227702256	Human	1	name
405165156	CV3149397	single nucleotide variant	NM_025243.4(SLC19A3):c.69T>C (p.Gly23=)	Biotin-responsive basal ganglia disease [RCV003841059]	likely benign	2	227702250	227702250	Human	1	name
13609539	CV517756	single nucleotide variant	NM_025243.4(SLC19A3):c.57C>G (p.Leu19=)	Biotin-responsive basal ganglia disease [RCV000640713]	likely benign	2	227702262	227702262	Human	1	name
14740007	CV629520	single nucleotide variant	NM_025243.4(SLC19A3):c.4G>A (p.Asp2Asn)	Biotin-responsive basal ganglia disease [RCV000805176]	uncertain significance	2	227702315	227702315	Human	1	name
127233808	CV1069251	single nucleotide variant	NM_025243.4(SLC19A3):c.141C>A (p.Thr47=)	Biotin-responsive basal ganglia disease [RCV001396278]	likely benign	2	227702178	227702178	Human	1	name
127242209	CV1069252	single nucleotide variant	NM_025243.4(SLC19A3):c.105T>C (p.Leu35=)	Biotin-responsive basal ganglia disease [RCV001393303]	likely benign	2	227702214	227702214	Human	1	name
127270619	CV1090959	single nucleotide variant	NM_025243.4(SLC19A3):c.228T>C (p.Tyr76=)	Biotin-responsive basal ganglia disease [RCV001430687]	likely benign	2	227699487	227699487	Human	1	name
127256470	CV1090960	single nucleotide variant	NM_025243.4(SLC19A3):c.141C>T (p.Thr47=)	Biotin-responsive basal ganglia disease [RCV001437696]\|not provided [RCV001549513]	likely benign	2	227702178	227702178	Human	1	name
127324213	CV1133392	single nucleotide variant	NM_025243.4(SLC19A3):c.171C>G (p.Pro57=)	Biotin-responsive basal ganglia disease [RCV001505622]	likely benign	2	227699544	227699544	Human	1	name
150546739	CV1313884	deletion	NM_025243.4(SLC19A3):c.63del (p.Leu21fs)	Biotin-responsive basal ganglia disease [RCV001784976]	pathogenic	2	227702256	227702256	Human		name
151709977	CV1361115	single nucleotide variant	NM_025243.4(SLC19A3):c.10T>A (p.Tyr4Asn)	Biotin-responsive basal ganglia disease [RCV001889165]	uncertain significance	2	227702309	227702309	Human	1	name
152099235	CV1578562	single nucleotide variant	NM_025243.4(SLC19A3):c.171C>T (p.Pro57=)	Biotin-responsive basal ganglia disease [RCV002151601]	likely benign	2	227699544	227699544	Human	1	name
152174169	CV1622145	single nucleotide variant	NM_025243.4(SLC19A3):c.291G>C (p.Leu97=)	Biotin-responsive basal ganglia disease [RCV002184418]	likely benign	2	227699424	227699424	Human	1	name
9687382	CV171852	single nucleotide variant	NM_025243.4(SLC19A3):c.20C>A (p.Ser7Ter)	Biotin-responsive basal ganglia disease [RCV000149551]\|not provided [RCV001310776]	pathogenic\|not provided	2	227702299	227702299	Human	1	name
10044802	CV188047	duplication	NM_025243.4(SLC19A3):c.74dup (p.Ser26fs)	Biotin-responsive basal ganglia disease [RCV000170443]\|not provided [RCV000367514]	pathogenic	2	227702244	227702245	Human	1	name
156098505	CV2132165	single nucleotide variant	NM_025243.4(SLC19A3):c.17C>G (p.Thr6Ser)	Biotin-responsive basal ganglia disease [RCV003002123]	uncertain significance	2	227702302	227702302	Human	1	name
11636905	CV274655	single nucleotide variant	NM_025243.4(SLC19A3):c.225T>C (p.Asp75=)	Biotin-responsive basal ganglia disease [RCV002059288]\|not provided [RCV000275775]	likely benign\|uncertain significance	2	227699490	227699490	Human	1	name
401930239	CV2818999	single nucleotide variant	NM_025243.4(SLC19A3):c.123A>T (p.Gly41=)	not provided [RCV003440209]	likely benign	2	227702196	227702196	Human		name
402483184	CV2908668	single nucleotide variant	NM_025243.4(SLC19A3):c.190C>T (p.Leu64=)	Biotin-responsive basal ganglia disease [RCV003502496]	likely benign	2	227699525	227699525	Human	1	name
402483462	CV2917845	single nucleotide variant	NM_025243.4(SLC19A3):c.12C>G (p.Tyr4Ter)	Biotin-responsive basal ganglia disease [RCV003503177]	pathogenic	2	227702307	227702307	Human	1	name
402483521	CV2932375	single nucleotide variant	NM_025243.4(SLC19A3):c.117A>G (p.Leu39=)	Biotin-responsive basal ganglia disease [RCV003503414]	likely benign	2	227702202	227702202	Human	1	name
405030487	CV2971861	single nucleotide variant	NM_025243.4(SLC19A3):c.102C>T (p.Phe34=)	Biotin-responsive basal ganglia disease [RCV003612600]	likely benign	2	227702217	227702217	Human	1	name
405030675	CV2980116	single nucleotide variant	NM_025243.4(SLC19A3):c.243A>G (p.Pro81=)	Biotin-responsive basal ganglia disease [RCV003612924]	likely benign	2	227699472	227699472	Human	1	name
405030637	CV2983459	single nucleotide variant	NM_025243.4(SLC19A3):c.111A>G (p.Pro37=)	Biotin-responsive basal ganglia disease [RCV003612917]	likely benign	2	227702208	227702208	Human	1	name
405029955	CV3020359	single nucleotide variant	NM_025243.4(SLC19A3):c.186C>G (p.Ser62=)	Biotin-responsive basal ganglia disease [RCV003611094]	likely benign	2	227699529	227699529	Human	1	name
405029980	CV3030981	single nucleotide variant	NM_025243.4(SLC19A3):c.210G>A (p.Val70=)	Biotin-responsive basal ganglia disease [RCV003611126]	likely benign	2	227699505	227699505	Human	1	name
405030133	CV3047544	single nucleotide variant	NM_025243.4(SLC19A3):c.183C>T (p.Tyr61=)	Biotin-responsive basal ganglia disease [RCV003611411]	likely benign	2	227699532	227699532	Human	1	name
405112642	CV3118637	single nucleotide variant	NM_025243.4(SLC19A3):c.198G>A (p.Leu66=)	Biotin-responsive basal ganglia disease [RCV003813865]	likely benign	2	227699517	227699517	Human	1	name
405193690	CV3146136	single nucleotide variant	NM_025243.4(SLC19A3):c.253T>C (p.Leu85=)	Biotin-responsive basal ganglia disease [RCV003843683]	likely benign	2	227699462	227699462	Human	1	name
402473539	CV3172213	single nucleotide variant	NM_025243.4(SLC19A3):c.180A>G (p.Thr60=)	Biotin-responsive basal ganglia disease [RCV003874816]	likely benign	2	227699535	227699535	Human	1	name
597934730	CV3793636	single nucleotide variant	NM_025243.4(SLC19A3):c.234C>A (p.Arg78=)	Biotin-responsive basal ganglia disease [RCV005132292]	likely benign	2	227699481	227699481	Human	1	name
597952126	CV3847555	single nucleotide variant	NM_025243.4(SLC19A3):c.231C>T (p.Val77=)	Biotin-responsive basal ganglia disease [RCV005190537]	likely benign	2	227699484	227699484	Human	1	name
14729715	CV629519	single nucleotide variant	NM_025243.4(SLC19A3):c.17C>A (p.Thr6Asn)	Biotin-responsive basal ganglia disease [RCV000817072]	uncertain significance	2	227702302	227702302	Human	1	name
15185168	CV733243	single nucleotide variant	NM_025243.4(SLC19A3):c.222C>T (p.Thr74=)	Biotin-responsive basal ganglia disease [RCV000908454]	likely benign	2	227699493	227699493	Human	1	name
38458285	CV931172	single nucleotide variant	NM_025243.4(SLC19A3):c.26G>A (p.Ser9Asn)	Biotin-responsive basal ganglia disease [RCV001211359]	uncertain significance	2	227702293	227702293	Human	1	name
126915996	CV1041134	single nucleotide variant	NM_025243.4(SLC19A3):c.88C>A (p.Pro30Thr)	Biotin-responsive basal ganglia disease [RCV001360312]	uncertain significance	2	227702231	227702231	Human	1	name
126921560	CV1041135	single nucleotide variant	NM_025243.4(SLC19A3):c.59G>A (p.Cys20Tyr)	Biotin-responsive basal ganglia disease [RCV001363632]	uncertain significance	2	227702260	227702260	Human	1	name
127254239	CV1069247	single nucleotide variant	NM_025243.4(SLC19A3):c.972C>A (p.Thr324=)	Biotin-responsive basal ganglia disease [RCV001400761]	likely benign	2	227698743	227698743	Human	1	name
127246195	CV1069248	single nucleotide variant	NM_025243.4(SLC19A3):c.924A>G (p.Pro308=)	Biotin-responsive basal ganglia disease [RCV001398909]	likely benign	2	227698791	227698791	Human	1	name
127244420	CV1069249	single nucleotide variant	NM_025243.4(SLC19A3):c.690G>A (p.Glu230=)	Biotin-responsive basal ganglia disease [RCV001393707]	likely benign	2	227699025	227699025	Human	1	name
127278859	CV1069250	single nucleotide variant	NM_025243.4(SLC19A3):c.327A>C (p.Val109=)	Biotin-responsive basal ganglia disease [RCV001408767]	likely benign	2	227699388	227699388	Human	1	name
127240415	CV1090958	single nucleotide variant	NM_025243.4(SLC19A3):c.366C>T (p.Ala122=)	Biotin-responsive basal ganglia disease [RCV001423333]\|not provided [RCV005243543]	likely benign	2	227699349	227699349	Human	1	name
127308634	CV1112465	single nucleotide variant	NM_025243.4(SLC19A3):c.375C>T (p.Ala125=)	Biotin-responsive basal ganglia disease [RCV001456128]	likely benign	2	227699340	227699340	Human	1	name
127311778	CV1112466	single nucleotide variant	NM_025243.4(SLC19A3):c.351C>T (p.Thr117=)	Biotin-responsive basal ganglia disease [RCV001456998]	likely benign	2	227699364	227699364	Human	1	name
127324714	CV1133388	single nucleotide variant	NM_025243.4(SLC19A3):c.825A>G (p.Ser275=)	Biotin-responsive basal ganglia disease [RCV001485539]	likely benign	2	227698890	227698890	Human	1	name
127302368	CV1133389	single nucleotide variant	NM_025243.4(SLC19A3):c.825A>C (p.Ser275=)	Biotin-responsive basal ganglia disease [RCV001499068]	likely benign	2	227698890	227698890	Human	1	name
127293869	CV1133390	single nucleotide variant	NM_025243.4(SLC19A3):c.816C>T (p.Cys272=)	Biotin-responsive basal ganglia disease [RCV001496869]	likely benign	2	227698899	227698899	Human	1	name
127321386	CV1133391	single nucleotide variant	NM_025243.4(SLC19A3):c.513C>T (p.Tyr171=)	Biotin-responsive basal ganglia disease [RCV001484515]	likely benign	2	227699202	227699202	Human	1	name
127303880	CV1154038	single nucleotide variant	NM_025243.4(SLC19A3):c.522C>A (p.Val174=)	Biotin-responsive basal ganglia disease [RCV001515661]	benign	2	227699193	227699193	Human	1	name
150435346	CV1206973	deletion	NM_025243.4(SLC19A3):c.171del (p.Val58fs)	Biotin-responsive basal ganglia disease [RCV003771790]\|not provided [RCV001582322]	pathogenic	2	227699544	227699544	Human	1	name
150547710	CV1303718	single nucleotide variant	NM_025243.4(SLC19A3):c.39T>G (p.Ile13Met)	not provided [RCV001763821]	uncertain significance	2	227702280	227702280	Human		name
151232408	CV1316773	single nucleotide variant	NM_025243.4(SLC19A3):c.555T>C (p.Leu185=)	not provided [RCV001786593]	likely benign	2	227699160	227699160	Human		name
8660698	CV135768	single nucleotide variant	NM_025243.4(SLC19A3):c.309G>A (p.Val103=)	Biotin-responsive basal ganglia disease [RCV001083851]\|not provided [RCV000676553]\|not specified [RCV000118359]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	227699406	227699406	Human	1	name
8660700	CV135770	single nucleotide variant	NM_025243.4(SLC19A3):c.435C>T (p.Ser145=)	Biotin-responsive basal ganglia disease [RCV000549286]\|not provided [RCV004707985]\|not specified [RCV000118361]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	227699280	227699280	Human	1	name
8660702	CV135772	single nucleotide variant	NM_025243.4(SLC19A3):c.549T>C (p.Ala183=)	Biotin-responsive basal ganglia disease [RCV000531269]\|not provided [RCV004709285]\|not specified [RCV000118363]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	227699166	227699166	Human	1	name
8692861	CV142827	single nucleotide variant	NM_025243.4(SLC19A3):c.756G>A (p.Leu252=)	Biotin-responsive basal ganglia disease [RCV001083651]\|not provided [RCV000676551]\|not specified [RCV000128063]	benign	2	227698959	227698959	Human	1	name
151885152	CV1444806	single nucleotide variant	NM_025243.4(SLC19A3):c.36G>A (p.Trp12Ter)	Biotin-responsive basal ganglia disease [RCV001941887]	pathogenic\|likely pathogenic	2	227702283	227702283	Human	1	name
151797973	CV1467841	single nucleotide variant	NM_025243.4(SLC19A3):c.98C>T (p.Pro33Leu)	Biotin-responsive basal ganglia disease [RCV001952655]	uncertain significance	2	227702221	227702221	Human	1	name
151836090	CV1489381	single nucleotide variant	NM_025243.4(SLC19A3):c.999A>G (p.Ala333=)	Biotin-responsive basal ganglia disease [RCV001902310]	likely benign\|uncertain significance	2	227696062	227696062	Human	1	name
152063238	CV1542286	single nucleotide variant	NM_025243.4(SLC19A3):c.805T>C (p.Leu269=)	Biotin-responsive basal ganglia disease [RCV002208957]	likely benign	2	227698910	227698910	Human	1	name
152131483	CV1553188	single nucleotide variant	NM_025243.4(SLC19A3):c.582G>A (p.Lys194=)	Biotin-responsive basal ganglia disease [RCV002199383]	likely benign	2	227699133	227699133	Human	1	name
152083345	CV1569439	single nucleotide variant	NM_025243.4(SLC19A3):c.420C>T (p.Ser140=)	Biotin-responsive basal ganglia disease [RCV002113056]	likely benign	2	227699295	227699295	Human	1	name
152151129	CV1605619	single nucleotide variant	NM_025243.4(SLC19A3):c.327A>G (p.Val109=)	Biotin-responsive basal ganglia disease [RCV002102246]	likely benign	2	227699388	227699388	Human	1	name
152134904	CV1638464	single nucleotide variant	NM_025243.4(SLC19A3):c.543C>T (p.Ser181=)	Biotin-responsive basal ganglia disease [RCV002083371]	likely benign	2	227699172	227699172	Human	1	name
152085463	CV1663275	single nucleotide variant	NM_025243.4(SLC19A3):c.417G>C (p.Val139=)	Biotin-responsive basal ganglia disease [RCV002171113]	likely benign	2	227699298	227699298	Human	1	name
155967927	CV1888644	single nucleotide variant	NM_025243.4(SLC19A3):c.390G>A (p.Val130=)	Biotin-responsive basal ganglia disease [RCV003075033]	likely benign	2	227699325	227699325	Human	1	name
156352995	CV1923753	single nucleotide variant	NM_025243.4(SLC19A3):c.717C>T (p.Ser239=)	Biotin-responsive basal ganglia disease [RCV002651040]	likely benign	2	227698998	227698998	Human	1	name
156176474	CV1927691	single nucleotide variant	NM_025243.4(SLC19A3):c.372C>T (p.Tyr124=)	Biotin-responsive basal ganglia disease [RCV002624892]	likely benign	2	227699343	227699343	Human	1	name
10048553	CV193689	single nucleotide variant	NM_025243.4(SLC19A3):c.546G>A (p.Val182=)	Biotin-responsive basal ganglia disease [RCV001085266]\|not provided [RCV000555222]\|not specified [RCV000177349]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	227699169	227699169	Human	1	name
8596479	CV19601	single nucleotide variant	NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val)	Biotin-responsive basal ganglia disease [RCV000004824]\|Inborn genetic diseases [RCV003242961]\|not provided [RCV001310775]	pathogenic\|likely pathogenic	2	227702251	227702251	Human	2	name
156092925	CV1984191	single nucleotide variant	NM_025243.4(SLC19A3):c.990T>G (p.Ala330=)	Biotin-responsive basal ganglia disease [RCV002621924]	likely benign	2	227696071	227696071	Human	1	name
155986595	CV2030484	single nucleotide variant	NM_025243.4(SLC19A3):c.744G>A (p.Gln248=)	Biotin-responsive basal ganglia disease [RCV002755565]	likely benign	2	227698971	227698971	Human	1	name
155962714	CV2037800	single nucleotide variant	NM_025243.4(SLC19A3):c.951G>A (p.Gly317=)	Biotin-responsive basal ganglia disease [RCV002776348]	likely benign	2	227698764	227698764	Human	1	name
155960482	CV2040436	single nucleotide variant	NM_025243.4(SLC19A3):c.993C>T (p.Ala331=)	Biotin-responsive basal ganglia disease [RCV002776244]	likely benign	2	227696068	227696068	Human	1	name
156069175	CV2065700	single nucleotide variant	NM_025243.4(SLC19A3):c.405C>T (p.His135=)	Biotin-responsive basal ganglia disease [RCV002847021]	likely benign	2	227699310	227699310	Human	1	name
155916096	CV2091758	single nucleotide variant	NM_025243.4(SLC19A3):c.723A>G (p.Ser241=)	Biotin-responsive basal ganglia disease [RCV002903093]	likely benign	2	227698992	227698992	Human	1	name
156150722	CV2100286	single nucleotide variant	NM_025243.4(SLC19A3):c.516C>G (p.Leu172=)	Biotin-responsive basal ganglia disease [RCV002872310]	likely benign	2	227699199	227699199	Human	1	name
156019111	CV2114732	single nucleotide variant	NM_025243.4(SLC19A3):c.67G>C (p.Gly23Arg)	Biotin-responsive basal ganglia disease [RCV002909524]	likely pathogenic	2	227702252	227702252	Human	1	name
156262517	CV2169966	single nucleotide variant	NM_025243.4(SLC19A3):c.84G>A (p.Met28Ile)	Biotin-responsive basal ganglia disease [RCV003026705]	uncertain significance	2	227702235	227702235	Human	1	name
11636524	CV265738	single nucleotide variant	NM_025243.4(SLC19A3):c.801A>G (p.Gln267=)	Biotin-responsive basal ganglia disease [RCV001084366]\|SLC19A3-related disorder [RCV003930046]\|not provided [RCV000724904]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	227698914	227698914	Human	1	name , trait , alternate_id
11579240	CV274651	single nucleotide variant	NM_025243.4(SLC19A3):c.399C>G (p.Pro133=)	Biotin-responsive basal ganglia disease [RCV001083300]\|not provided [RCV000726481]\|not specified [RCV000366632]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	227699316	227699316	Human	1	name
401830798	CV2748309	single nucleotide variant	NM_025243.4(SLC19A3):c.58T>A (p.Cys20Ser)	not provided [RCV003329918]	uncertain significance	2	227702261	227702261	Human		name
401919483	CV2818998	deletion	NM_025243.4(SLC19A3):c.198del (p.Leu67fs)	not provided [RCV003431155]	uncertain significance	2	227699517	227699517	Human		name
11594666	CV285870	single nucleotide variant	NM_025243.4(SLC19A3):c.481T>C (p.Leu161=)	Biotin-responsive basal ganglia disease [RCV000361560]	conflicting interpretations of pathogenicity\|uncertain significance	2	227699234	227699234	Human	1	name
402483595	CV2860160	single nucleotide variant	NM_025243.4(SLC19A3):c.651A>G (p.Leu217=)	Biotin-responsive basal ganglia disease [RCV003503587]	likely benign	2	227699064	227699064	Human	1	name
402483382	CV2861080	single nucleotide variant	NM_025243.4(SLC19A3):c.780C>T (p.Asp260=)	Biotin-responsive basal ganglia disease [RCV003502840]	likely benign	2	227698935	227698935	Human	1	name
402483675	CV2875727	single nucleotide variant	NM_025243.4(SLC19A3):c.675A>G (p.Ala225=)	Biotin-responsive basal ganglia disease [RCV003503811]	likely benign	2	227699040	227699040	Human	1	name
402483657	CV2878470	single nucleotide variant	NM_025243.4(SLC19A3):c.648A>G (p.Val216=)	Biotin-responsive basal ganglia disease [RCV003503739]	likely benign	2	227699067	227699067	Human	1	name
402483785	CV2882373	single nucleotide variant	NM_025243.4(SLC19A3):c.639G>C (p.Val213=)	Biotin-responsive basal ganglia disease [RCV003504297]	likely benign	2	227699076	227699076	Human	1	name
11593921	CV288576	single nucleotide variant	NM_025243.4(SLC19A3):c.390G>T (p.Val130=)	Biotin-responsive basal ganglia disease [RCV000547751]\|not provided [RCV001310774]\|not specified [RCV004999336]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	227699325	227699325	Human	1	name
402483754	CV2888627	single nucleotide variant	NM_025243.4(SLC19A3):c.534C>T (p.Ala178=)	Biotin-responsive basal ganglia disease [RCV003504206]	likely benign	2	227699181	227699181	Human	1	name
402483794	CV2893399	single nucleotide variant	NM_025243.4(SLC19A3):c.645A>G (p.Pro215=)	Biotin-responsive basal ganglia disease [RCV003504364]	likely benign	2	227699070	227699070	Human	1	name
402483836	CV2894121	single nucleotide variant	NM_025243.4(SLC19A3):c.504G>A (p.Ser168=)	Biotin-responsive basal ganglia disease [RCV003504466]	likely benign	2	227699211	227699211	Human	1	name
402483860	CV2894341	single nucleotide variant	NM_025243.4(SLC19A3):c.732G>A (p.Leu244=)	Biotin-responsive basal ganglia disease [RCV003504476]	likely benign	2	227698983	227698983	Human	1	name
402483145	CV2897311	single nucleotide variant	NM_025243.4(SLC19A3):c.456A>G (p.Thr152=)	Biotin-responsive basal ganglia disease [RCV003502308]	likely benign	2	227699259	227699259	Human	1	name
402483152	CV2904125	single nucleotide variant	NM_025243.4(SLC19A3):c.771G>C (p.Val257=)	Biotin-responsive basal ganglia disease [RCV003502338]	likely benign	2	227698944	227698944	Human	1	name
402483550	CV2923269	single nucleotide variant	NM_025243.4(SLC19A3):c.849A>C (p.Leu283=)	Biotin-responsive basal ganglia disease [RCV003503442]	likely benign	2	227698866	227698866	Human	1	name
402483499	CV2930764	duplication	NM_025243.4(SLC19A3):c.125dup (p.Asp43fs)	Biotin-responsive basal ganglia disease [RCV003503264]	pathogenic	2	227702193	227702194	Human	1	name
402483561	CV2932781	single nucleotide variant	NM_025243.4(SLC19A3):c.705A>G (p.Ser235=)	Biotin-responsive basal ganglia disease [RCV003503451]	likely benign	2	227699010	227699010	Human	1	name
405031990	CV2948939	single nucleotide variant	NM_025243.4(SLC19A3):c.564T>C (p.Leu188=)	Biotin-responsive basal ganglia disease [RCV003611813]	likely benign	2	227699151	227699151	Human	1	name
405030474	CV2970582	single nucleotide variant	NM_025243.4(SLC19A3):c.870A>C (p.Ala290=)	Biotin-responsive basal ganglia disease [RCV003612523]	likely benign	2	227698845	227698845	Human	1	name
405030613	CV2982871	single nucleotide variant	NM_025243.4(SLC19A3):c.786T>C (p.Phe262=)	Biotin-responsive basal ganglia disease [RCV003612868]	likely benign	2	227698929	227698929	Human	1	name
405030790	CV3002394	single nucleotide variant	NM_025243.4(SLC19A3):c.906G>C (p.Leu302=)	Biotin-responsive basal ganglia disease [RCV003613103]	likely benign	2	227698809	227698809	Human	1	name
405030905	CV3006353	single nucleotide variant	NM_025243.4(SLC19A3):c.730C>T (p.Leu244=)	Biotin-responsive basal ganglia disease [RCV003613355]	likely benign	2	227698985	227698985	Human	1	name
405030916	CV3010011	single nucleotide variant	NM_025243.4(SLC19A3):c.765C>T (p.Ser255=)	Biotin-responsive basal ganglia disease [RCV003613366]	likely benign	2	227698950	227698950	Human	1	name
405030857	CV3012045	single nucleotide variant	NM_025243.4(SLC19A3):c.894T>C (p.Tyr298=)	Biotin-responsive basal ganglia disease [RCV003613276]	likely benign	2	227698821	227698821	Human	1	name
405030868	CV3012237	single nucleotide variant	NM_025243.4(SLC19A3):c.306A>C (p.Gly102=)	Biotin-responsive basal ganglia disease [RCV003613281]	likely benign	2	227699409	227699409	Human	1	name
405030880	CV3016078	single nucleotide variant	NM_025243.4(SLC19A3):c.981G>T (p.Gly327=)	Biotin-responsive basal ganglia disease [RCV003613333]	likely benign	2	227696080	227696080	Human	1	name
405029865	CV3018900	single nucleotide variant	NM_025243.4(SLC19A3):c.552C>T (p.Phe184=)	Biotin-responsive basal ganglia disease [RCV003611000]	likely benign	2	227699163	227699163	Human	1	name
405029934	CV3019644	single nucleotide variant	NM_025243.4(SLC19A3):c.354C>T (p.Ala118=)	Biotin-responsive basal ganglia disease [RCV003611059]	likely benign	2	227699361	227699361	Human	1	name
405029920	CV3023366	single nucleotide variant	NM_025243.4(SLC19A3):c.754C>T (p.Leu252=)	Biotin-responsive basal ganglia disease [RCV003611057]	likely benign	2	227698961	227698961	Human	1	name
405029943	CV3023442	single nucleotide variant	NM_025243.4(SLC19A3):c.486A>G (p.Val162=)	Biotin-responsive basal ganglia disease [RCV003611080]	likely benign	2	227699229	227699229	Human	1	name
405030028	CV3042859	single nucleotide variant	NM_025243.4(SLC19A3):c.972C>T (p.Thr324=)	Biotin-responsive basal ganglia disease [RCV003611304]	likely benign	2	227698743	227698743	Human	1	name
405031897	CV3049227	single nucleotide variant	NM_025243.4(SLC19A3):c.324T>C (p.Val108=)	Biotin-responsive basal ganglia disease [RCV003612008]	likely benign	2	227699391	227699391	Human	1	name
405031821	CV3059030	single nucleotide variant	NM_025243.4(SLC19A3):c.330G>A (p.Glu110=)	Biotin-responsive basal ganglia disease [RCV003612189]	likely benign	2	227699385	227699385	Human	1	name
405030373	CV3079651	single nucleotide variant	NM_025243.4(SLC19A3):c.921G>A (p.Ala307=)	Biotin-responsive basal ganglia disease [RCV003612383]	likely benign	2	227698794	227698794	Human	1	name
405016994	CV3124867	single nucleotide variant	NM_025243.4(SLC19A3):c.378C>T (p.Tyr126=)	Biotin-responsive basal ganglia disease [RCV003829492]	likely benign	2	227699337	227699337	Human	1	name
405139450	CV3125476	single nucleotide variant	NM_025243.4(SLC19A3):c.510T>C (p.Phe170=)	Biotin-responsive basal ganglia disease [RCV003816583]	likely benign	2	227699205	227699205	Human	1	name
405209697	CV3145889	single nucleotide variant	NM_025243.4(SLC19A3):c.942C>A (p.Ile314=)	Biotin-responsive basal ganglia disease [RCV003845619]	likely benign	2	227698773	227698773	Human	1	name
402481595	CV3170796	single nucleotide variant	NM_025243.4(SLC19A3):c.534C>A (p.Ala178=)	Biotin-responsive basal ganglia disease [RCV003875998]	likely benign	2	227699181	227699181	Human	1	name
402503024	CV3170979	single nucleotide variant	NM_025243.4(SLC19A3):c.447C>T (p.Ala149=)	Biotin-responsive basal ganglia disease [RCV003878166]	likely benign	2	227699268	227699268	Human	1	name
402510806	CV3178331	single nucleotide variant	NM_025243.4(SLC19A3):c.663C>T (p.His221=)	Biotin-responsive basal ganglia disease [RCV003878948]	likely benign	2	227699052	227699052	Human	1	name
404983014	CV3179645	single nucleotide variant	NM_025243.4(SLC19A3):c.636C>T (p.Ser212=)	Biotin-responsive basal ganglia disease [RCV003880626]	likely benign	2	227699079	227699079	Human	1	name
405710089	CV3225727	duplication	NM_025243.4(SLC19A3):c.191dup (p.Val65fs)	Biotin-responsive basal ganglia disease [RCV003990785]	uncertain significance	2	227699523	227699524	Human	1	name
12843336	CV366468	single nucleotide variant	NM_025243.4(SLC19A3):c.387C>T (p.Ser129=)	Biotin-responsive basal ganglia disease [RCV000640717]\|not provided [RCV001703766]	likely benign	2	227699328	227699328	Human	1	name
597831552	CV3750910	single nucleotide variant	NM_025243.4(SLC19A3):c.363G>A (p.Val121=)	Biotin-responsive basal ganglia disease [RCV005084654]	likely benign	2	227699352	227699352	Human	1	name
597946580	CV3774910	single nucleotide variant	NM_025243.4(SLC19A3):c.369C>T (p.Tyr123=)	Biotin-responsive basal ganglia disease [RCV005120007]	likely benign	2	227699346	227699346	Human	1	name
597932129	CV3786131	single nucleotide variant	NM_025243.4(SLC19A3):c.35G>A (p.Trp12Ter)	Biotin-responsive basal ganglia disease [RCV005131839]	pathogenic\|likely pathogenic	2	227702284	227702284	Human	1	name
597919705	CV3811689	single nucleotide variant	NM_025243.4(SLC19A3):c.483G>A (p.Leu161=)	Biotin-responsive basal ganglia disease [RCV005155520]	likely benign	2	227699232	227699232	Human	1	name
597835497	CV3828230	single nucleotide variant	NM_025243.4(SLC19A3):c.714C>T (p.Leu238=)	Biotin-responsive basal ganglia disease [RCV005171122]	likely benign	2	227699001	227699001	Human	1	name
597867792	CV3838788	single nucleotide variant	NM_025243.4(SLC19A3):c.465G>A (p.Ser155=)	Biotin-responsive basal ganglia disease [RCV005176084]	likely benign	2	227699250	227699250	Human	1	name
597859213	CV3850167	single nucleotide variant	NM_025243.4(SLC19A3):c.768T>C (p.Asn256=)	Biotin-responsive basal ganglia disease [RCV005195500]	likely benign	2	227698947	227698947	Human	1	name
13533237	CV499571	single nucleotide variant	NM_025243.4(SLC19A3):c.957A>G (p.Val319=)	Biotin-responsive basal ganglia disease [RCV003611527]\|not specified [RCV000601600]	likely benign	2	227698758	227698758	Human	1	name
13609541	CV517946	single nucleotide variant	NM_025243.4(SLC19A3):c.870A>G (p.Ala290=)	Biotin-responsive basal ganglia disease [RCV000640715]\|SLC19A3-related disorder [RCV004755998]	likely benign	2	227698845	227698845	Human	1	name , trait , alternate_id
13828860	CV581749	deletion	NM_025243.4(SLC19A3):c.111del (p.Tyr38fs)	Biotin-responsive basal ganglia disease [RCV000721987]	pathogenic\|likely pathogenic	2	227702208	227702208	Human	1	name
14716411	CV629518	single nucleotide variant	NM_025243.4(SLC19A3):c.52A>G (p.Ile18Val)	Biotin-responsive basal ganglia disease [RCV000811563]	uncertain significance	2	227702267	227702267	Human	1	name
14709047	CV658885	microsatellite	NM_025243.4(SLC19A3):c.979+279_979+282del	not provided [RCV000833059]	benign	2	227698454	227698457	Human		name
15188575	CV719685	single nucleotide variant	NM_025243.4(SLC19A3):c.745C>T (p.Leu249=)	Biotin-responsive basal ganglia disease [RCV002065526]	likely benign	2	227698970	227698970	Human	1	name
15191764	CV719686	single nucleotide variant	NM_025243.4(SLC19A3):c.357C>T (p.Ala119=)	Biotin-responsive basal ganglia disease [RCV000888472]	likely benign	2	227699358	227699358	Human	1	name
15116978	CV733241	single nucleotide variant	NM_025243.4(SLC19A3):c.660T>A (p.Thr220=)	not provided [RCV000895298]	likely benign	2	227699055	227699055	Human		name
15157947	CV733242	single nucleotide variant	NM_025243.4(SLC19A3):c.399C>T (p.Pro133=)	Biotin-responsive basal ganglia disease [RCV001467574]	likely benign	2	227699316	227699316	Human	1	name
15165597	CV747392	single nucleotide variant	NM_025243.4(SLC19A3):c.987G>A (p.Val329=)	Biotin-responsive basal ganglia disease [RCV000926665]\|not provided [RCV001566416]	likely benign	2	227696074	227696074	Human	1	name
15178630	CV763026	single nucleotide variant	NM_025243.4(SLC19A3):c.819C>T (p.Tyr273=)	Biotin-responsive basal ganglia disease [RCV001402868]	likely benign	2	227698896	227698896	Human	1	name
15179908	CV763027	single nucleotide variant	NM_025243.4(SLC19A3):c.519C>T (p.Asn173=)	Biotin-responsive basal ganglia disease [RCV000929755]	likely benign	2	227699196	227699196	Human	1	name
15102079	CV763028	single nucleotide variant	NM_025243.4(SLC19A3):c.447C>G (p.Ala149=)	Biotin-responsive basal ganglia disease [RCV001464944]	likely benign	2	227699268	227699268	Human	1	name
15101063	CV781229	single nucleotide variant	NM_025243.4(SLC19A3):c.861C>T (p.Phe287=)	Biotin-responsive basal ganglia disease [RCV000975516]	likely benign\|conflicting interpretations of pathogenicity	2	227698854	227698854	Human	1	name
28884720	CV884083	single nucleotide variant	NM_025243.4(SLC19A3):c.876T>C (p.Phe292=)	Biotin-responsive basal ganglia disease [RCV001137315]	uncertain significance	2	227698839	227698839	Human	1	name
28893923	CV884085	single nucleotide variant	NM_025243.4(SLC19A3):c.360G>A (p.Glu120=)	Biotin-responsive basal ganglia disease [RCV001140321]	conflicting interpretations of pathogenicity\|uncertain significance	2	227699355	227699355	Human	1	name
38498234	CV942637	single nucleotide variant	NM_025243.4(SLC19A3):c.357C>A (p.Ala119=)	Biotin-responsive basal ganglia disease [RCV001227650]	likely benign\|uncertain significance	2	227699358	227699358	Human	1	name
126916064	CV1041130	single nucleotide variant	NM_025243.4(SLC19A3):c.1245G>A (p.Leu415=)	Biotin-responsive basal ganglia disease [RCV001360355]	likely benign\|uncertain significance	2	227688235	227688235	Human	1	name
126915075	CV1041133	single nucleotide variant	NM_025243.4(SLC19A3):c.232C>T (p.Arg78Cys)	Biotin-responsive basal ganglia disease [RCV001359775]	uncertain significance	2	227699483	227699483	Human	1	name
127253660	CV1069246	single nucleotide variant	NM_025243.4(SLC19A3):c.1383C>T (p.Thr461=)	Biotin-responsive basal ganglia disease [RCV001400611]	likely benign	2	227687505	227687505	Human	1	name
127263251	CV1090956	single nucleotide variant	NM_025243.4(SLC19A3):c.1467T>C (p.Asn489=)	Biotin-responsive basal ganglia disease [RCV001428520]	likely benign	2	227687421	227687421	Human	1	name
127251111	CV1090957	single nucleotide variant	NM_025243.4(SLC19A3):c.1383C>G (p.Thr461=)	Biotin-responsive basal ganglia disease [RCV001425499]	likely benign	2	227687505	227687505	Human	1	name
127330014	CV1112462	single nucleotide variant	NM_025243.4(SLC19A3):c.1113G>A (p.Ala371=)	Biotin-responsive basal ganglia disease [RCV001470573]	likely benign	2	227695948	227695948	Human	1	name
127334299	CV1112463	single nucleotide variant	NM_025243.4(SLC19A3):c.1002G>T (p.Val334=)	Biotin-responsive basal ganglia disease [RCV001473495]	likely benign	2	227696059	227696059	Human	1	name
127327531	CV1133386	single nucleotide variant	NM_025243.4(SLC19A3):c.1104T>C (p.Asn368=)	Biotin-responsive basal ganglia disease [RCV001506666]\|not provided [RCV003434297]	likely benign	2	227695957	227695957	Human	1	name
127329593	CV1133387	single nucleotide variant	NM_025243.4(SLC19A3):c.1071C>T (p.Ala357=)	Biotin-responsive basal ganglia disease [RCV001487526]	likely benign	2	227695990	227695990	Human	1	name
150556552	CV1303249	single nucleotide variant	NM_025243.4(SLC19A3):c.217C>T (p.Leu73Phe)	Inborn genetic diseases [RCV002540479]\|not provided [RCV001774442]	uncertain significance	2	227699498	227699498	Human	1	name
150553528	CV1303533	single nucleotide variant	NM_025243.4(SLC19A3):c.113A>G (p.Tyr38Cys)	not provided [RCV001769223]	uncertain significance	2	227702206	227702206	Human		name
151351388	CV1323537	duplication	NM_025243.4(SLC19A3):c.307dup (p.Val103fs)	Biotin-responsive basal ganglia disease [RCV001806393]	pathogenic	2	227699407	227699408	Human	1	name
151866425	CV1399507	single nucleotide variant	NM_025243.4(SLC19A3):c.158A>C (p.Asn53Thr)	Biotin-responsive basal ganglia disease [RCV001884589]	uncertain significance	2	227699557	227699557	Human	1	name
151821675	CV1415505	single nucleotide variant	NM_025243.4(SLC19A3):c.185C>T (p.Ser62Phe)	Biotin-responsive basal ganglia disease [RCV001900944]	uncertain significance	2	227699530	227699530	Human	1	name
151827330	CV1447364	single nucleotide variant	NM_025243.4(SLC19A3):c.127G>A (p.Asp43Asn)	Biotin-responsive basal ganglia disease [RCV001870188]	uncertain significance	2	227702192	227702192	Human	1	name
151754151	CV1467522	single nucleotide variant	NM_025243.4(SLC19A3):c.172G>A (p.Val58Ile)	Biotin-responsive basal ganglia disease [RCV001948449]	uncertain significance	2	227699543	227699543	Human	1	name
151720115	CV1481286	deletion	NM_025243.4(SLC19A3):c.426del (p.Cys143fs)	Biotin-responsive basal ganglia disease [RCV001982938]	pathogenic	2	227699289	227699289	Human	1	name
152094547	CV1561795	single nucleotide variant	NM_025243.4(SLC19A3):c.1254G>A (p.Gln418=)	Biotin-responsive basal ganglia disease [RCV002194741]	likely benign	2	227688226	227688226	Human	1	name
152167592	CV1577486	single nucleotide variant	NM_025243.4(SLC19A3):c.1440T>C (p.Asp480=)	Biotin-responsive basal ganglia disease [RCV002204747]	likely benign	2	227687448	227687448	Human	1	name
152052293	CV1607215	single nucleotide variant	NM_025243.4(SLC19A3):c.1140G>A (p.Lys380=)	Biotin-responsive basal ganglia disease [RCV002109124]	likely benign	2	227695921	227695921	Human	1	name
152100086	CV1610772	single nucleotide variant	NM_025243.4(SLC19A3):c.1143C>T (p.Ser381=)	Biotin-responsive basal ganglia disease [RCV002133163]	likely benign	2	227695918	227695918	Human	1	name
152105495	CV1614689	single nucleotide variant	NM_025243.4(SLC19A3):c.1461G>A (p.Glu487=)	Biotin-responsive basal ganglia disease [RCV002079551]	likely benign	2	227687427	227687427	Human	1	name
156053587	CV1881905	single nucleotide variant	NM_025243.4(SLC19A3):c.1080A>G (p.Leu360=)	Biotin-responsive basal ganglia disease [RCV003078966]	likely benign	2	227695981	227695981	Human	1	name
156444555	CV1938416	single nucleotide variant	NM_025243.4(SLC19A3):c.110C>T (p.Pro37Leu)	Biotin-responsive basal ganglia disease [RCV003115479]	uncertain significance	2	227702209	227702209	Human	1	name
156447454	CV1945407	single nucleotide variant	NM_025243.4(SLC19A3):c.1380T>A (p.Ile460=)	Biotin-responsive basal ganglia disease [RCV003118982]	likely benign	2	227687508	227687508	Human	1	name
156438223	CV1945965	single nucleotide variant	NM_025243.4(SLC19A3):c.175T>C (p.Trp59Arg)	Biotin-responsive basal ganglia disease [RCV003107769]\|not specified [RCV005240693]	uncertain significance	2	227699540	227699540	Human	1	name
8596481	CV19604	single nucleotide variant	NM_025243.4(SLC19A3):c.130A>G (p.Lys44Glu)	Biotin-responsive basal ganglia disease [RCV000004827]	pathogenic	2	227702189	227702189	Human	1	name
156148620	CV2003094	single nucleotide variant	NM_025243.4(SLC19A3):c.1233C>T (p.Thr411=)	Biotin-responsive basal ganglia disease [RCV002663822]	likely benign	2	227688247	227688247	Human	1	name
156396963	CV2012472	single nucleotide variant	NM_025243.4(SLC19A3):c.233G>A (p.Arg78His)	Biotin-responsive basal ganglia disease [RCV002725645]	uncertain significance	2	227699482	227699482	Human	1	name
156000596	CV2045536	single nucleotide variant	NM_025243.4(SLC19A3):c.1398C>T (p.Ser466=)	Biotin-responsive basal ganglia disease [RCV002756183]	likely benign	2	227687490	227687490	Human	1	name
156328032	CV2050428	single nucleotide variant	NM_025243.4(SLC19A3):c.1101C>A (p.Ala367=)	Biotin-responsive basal ganglia disease [RCV002810511]	likely benign	2	227695960	227695960	Human	1	name
10403650	CV206943	single nucleotide variant	NM_025243.4(SLC19A3):c.187T>C (p.Tyr63His)	Biotin-responsive basal ganglia disease [RCV000806997]\|SLC19A3-related disorder [RCV003917774]\|not provided [RCV001561553]\|not specified [RCV000193057]	pathogenic\|likely benign\|uncertain significance	2	227699528	227699528	Human	1	name , trait , alternate_id
155924943	CV2073873	single nucleotide variant	NM_025243.4(SLC19A3):c.202C>G (p.Leu68Val)	Biotin-responsive basal ganglia disease [RCV002838485]	uncertain significance	2	227699513	227699513	Human	1	name
156202561	CV2076549	single nucleotide variant	NM_025243.4(SLC19A3):c.160G>T (p.Glu54Ter)	Biotin-responsive basal ganglia disease [RCV002852519]	pathogenic	2	227699555	227699555	Human	1	name
156000139	CV2092164	single nucleotide variant	NM_025243.4(SLC19A3):c.103C>T (p.Leu35Phe)	Biotin-responsive basal ganglia disease [RCV002908588]\|not provided [RCV004765591]	uncertain significance	2	227702216	227702216	Human	1	name
156000654	CV2092196	single nucleotide variant	NM_025243.4(SLC19A3):c.1425A>C (p.Pro475=)	Biotin-responsive basal ganglia disease [RCV002908613]	likely benign	2	227687463	227687463	Human	1	name
156153159	CV2100391	single nucleotide variant	NM_025243.4(SLC19A3):c.1005T>C (p.Gly335=)	Biotin-responsive basal ganglia disease [RCV002872391]	likely benign	2	227696056	227696056	Human	1	name
156271644	CV2168106	single nucleotide variant	NM_025243.4(SLC19A3):c.1329G>A (p.Gly443=)	Biotin-responsive basal ganglia disease [RCV003027012]	likely benign	2	227687559	227687559	Human	1	name
155993463	CV2171383	single nucleotide variant	NM_025243.4(SLC19A3):c.1464T>C (p.Ser488=)	Biotin-responsive basal ganglia disease [RCV003034436]	likely benign	2	227687424	227687424	Human	1	name
402483369	CV2864139	single nucleotide variant	NM_025243.4(SLC19A3):c.1170A>C (p.Ala390=)	Biotin-responsive basal ganglia disease [RCV003502792]	likely benign	2	227695891	227695891	Human	1	name
402483684	CV2872393	single nucleotide variant	NM_025243.4(SLC19A3):c.1272T>C (p.Ile424=)	Biotin-responsive basal ganglia disease [RCV003503826]	likely benign	2	227688208	227688208	Human	1	name
402483428	CV2909191	single nucleotide variant	NM_025243.4(SLC19A3):c.1482A>C (p.Thr494=)	Biotin-responsive basal ganglia disease [RCV003503003]	likely benign	2	227687406	227687406	Human	1	name
402483473	CV2917890	single nucleotide variant	NM_025243.4(SLC19A3):c.1129T>C (p.Leu377=)	Biotin-responsive basal ganglia disease [RCV003503178]	likely benign	2	227695932	227695932	Human	1	name
402483174	CV2918644	single nucleotide variant	NM_025243.4(SLC19A3):c.1197T>C (p.Asn399=)	Biotin-responsive basal ganglia disease [RCV003502404]	likely benign	2	227688283	227688283	Human	1	name
402483451	CV2920534	single nucleotide variant	NM_025243.4(SLC19A3):c.1335T>C (p.Tyr445=)	Biotin-responsive basal ganglia disease [RCV003503080]	likely benign	2	227687553	227687553	Human	1	name
402483541	CV2929404	single nucleotide variant	NM_025243.4(SLC19A3):c.1020C>T (p.Asn340=)	Biotin-responsive basal ganglia disease [RCV003503426]	likely benign	2	227696041	227696041	Human	1	name
402483716	CV2933474	single nucleotide variant	NM_025243.4(SLC19A3):c.1392C>A (p.Thr464=)	Biotin-responsive basal ganglia disease [RCV003504009]	likely benign	2	227687496	227687496	Human	1	name
405032002	CV2941672	single nucleotide variant	NM_025243.4(SLC19A3):c.1410A>T (p.Val470=)	Biotin-responsive basal ganglia disease [RCV003611786]	likely benign	2	227687478	227687478	Human	1	name
405030536	CV2971924	single nucleotide variant	NM_025243.4(SLC19A3):c.1488C>T (p.Leu496=)	Biotin-responsive basal ganglia disease [RCV003612626]	likely benign	2	227687400	227687400	Human	1	name
405030602	CV2978933	duplication	NM_025243.4(SLC19A3):c.129dup (p.Lys44Ter)	Biotin-responsive basal ganglia disease [RCV003612849]	pathogenic	2	227702189	227702190	Human	1	name
405030647	CV2983796	single nucleotide variant	NM_025243.4(SLC19A3):c.1053C>T (p.Val351=)	Biotin-responsive basal ganglia disease [RCV003612920]	likely benign	2	227696008	227696008	Human	1	name
405032016	CV2983813	single nucleotide variant	NM_025243.4(SLC19A3):c.1236T>C (p.Phe412=)	Biotin-responsive basal ganglia disease [RCV003612921]	likely benign	2	227688244	227688244	Human	1	name
405030757	CV2991312	deletion	NM_025243.4(SLC19A3):c.856del (p.Ala286fs)	Biotin-responsive basal ganglia disease [RCV003613046]	pathogenic	2	227698859	227698859	Human	1	name
405030829	CV3003272	single nucleotide variant	NM_025243.4(SLC19A3):c.177G>A (p.Trp59Ter)	Biotin-responsive basal ganglia disease [RCV003613167]	pathogenic	2	227699538	227699538	Human	1	name
405030892	CV3009778	single nucleotide variant	NM_025243.4(SLC19A3):c.1302A>G (p.Pro434=)	Biotin-responsive basal ganglia disease [RCV003613346]	likely benign	2	227688178	227688178	Human	1	name
405030998	CV3021948	single nucleotide variant	NM_025243.4(SLC19A3):c.1347T>C (p.Ile449=)	Biotin-responsive basal ganglia disease [RCV003613502]	likely benign	2	227687541	227687541	Human	1	name
405031013	CV3022084	deletion	NM_025243.4(SLC19A3):c.701del (p.Thr234fs)	Biotin-responsive basal ganglia disease [RCV003613504]	pathogenic	2	227699014	227699014	Human	1	name
405029881	CV3023013	single nucleotide variant	NM_025243.4(SLC19A3):c.1407T>C (p.Asp469=)	Biotin-responsive basal ganglia disease [RCV003611050]	likely benign	2	227687481	227687481	Human	1	name
405029891	CV3023160	single nucleotide variant	NM_025243.4(SLC19A3):c.1131G>A (p.Leu377=)	Biotin-responsive basal ganglia disease [RCV003611053]	likely benign	2	227695930	227695930	Human	1	name
405030988	CV3024893	single nucleotide variant	NM_025243.4(SLC19A3):c.1425A>G (p.Pro475=)	Biotin-responsive basal ganglia disease [RCV003613485]	likely benign	2	227687463	227687463	Human	1	name
405030171	CV3055445	single nucleotide variant	NM_025243.4(SLC19A3):c.1297T>C (p.Leu433=)	Biotin-responsive basal ganglia disease [RCV003611458]	likely benign	2	227688183	227688183	Human	1	name
405030421	CV3072161	deletion	NM_025243.4(SLC19A3):c.597del (p.His200fs)	Biotin-responsive basal ganglia disease [RCV003612469]	pathogenic	2	227699118	227699118	Human	1	name
405276303	CV3198485	single nucleotide variant	NM_025243.4(SLC19A3):c.1341A>G (p.Ala447=)	SLC19A3-related disorder [RCV003903818]	likely benign	2	227687547	227687547	Human		name , trait , alternate_id
405282076	CV3224744	single nucleotide variant	NM_025243.4(SLC19A3):c.137T>C (p.Leu46Pro)	Biotin-responsive basal ganglia disease [RCV003989081]	uncertain significance	2	227702182	227702182	Human	1	name
405688312	CV3228494	deletion	NM_025243.4(SLC19A3):c.696del (p.Lys232fs)	Biotin-responsive basal ganglia disease [RCV004006229]	pathogenic	2	227699019	227699019	Human	1	name
407425111	CV3411092	single nucleotide variant	NM_025243.4(SLC19A3):c.271A>G (p.Ile91Val)	not provided [RCV004588782]	uncertain significance	2	227699444	227699444	Human		name
407573186	CV3498987	single nucleotide variant	NM_025243.4(SLC19A3):c.157A>G (p.Asn53Asp)	Biotin-responsive basal ganglia disease [RCV004699956]	likely pathogenic\|conflicting interpretations of pathogenicity	2	227699558	227699558	Human	1	name
597860006	CV3748625	single nucleotide variant	NM_025243.4(SLC19A3):c.1227C>T (p.Ile409=)	Biotin-responsive basal ganglia disease [RCV005067257]	likely benign	2	227688253	227688253	Human	1	name
597907985	CV3769852	deletion	NM_025243.4(SLC19A3):c.989del (p.Ala330fs)	Biotin-responsive basal ganglia disease [RCV005113355]	pathogenic	2	227696072	227696072	Human	1	name
597907908	CV3806045	single nucleotide variant	NM_025243.4(SLC19A3):c.1101C>G (p.Ala367=)	Biotin-responsive basal ganglia disease [RCV005153803]	likely benign	2	227695960	227695960	Human	1	name
597908410	CV3829907	single nucleotide variant	NM_025243.4(SLC19A3):c.1011G>A (p.Val337=)	Biotin-responsive basal ganglia disease [RCV005182476]	likely benign	2	227696050	227696050	Human	1	name
597959001	CV3848491	single nucleotide variant	NM_025243.4(SLC19A3):c.1068T>C (p.Asn356=)	Biotin-responsive basal ganglia disease [RCV005192192]	likely benign	2	227695993	227695993	Human	1	name
597875828	CV3859821	single nucleotide variant	NM_025243.4(SLC19A3):c.153A>G (p.Ile51Met)	Biotin-responsive basal ganglia disease [RCV005198228]	uncertain significance	2	227699562	227699562	Human	1	name
12906191	CV414875	single nucleotide variant	NM_025243.4(SLC19A3):c.223G>A (p.Asp75Asn)	Biotin-responsive basal ganglia disease [RCV001234509]\|not provided [RCV000488928]	likely pathogenic\|uncertain significance	2	227699492	227699492	Human	1	name
12913872	CV421369	single nucleotide variant	NM_025243.4(SLC19A3):c.148G>T (p.Glu50Ter)	not provided [RCV000494363]	likely pathogenic	2	227702171	227702171	Human		name
13612862	CV432355	single nucleotide variant	NM_025243.4(SLC19A3):c.265A>C (p.Ser89Arg)	Biotin-responsive basal ganglia disease [RCV000656114]\|not specified [RCV004782411]	pathogenic\|likely pathogenic\|uncertain significance	2	227699450	227699450	Human	1	name
13612863	CV432356	single nucleotide variant	NM_025243.4(SLC19A3):c.197T>C (p.Leu66Pro)	Biotin-responsive basal ganglia disease [RCV000656115]	pathogenic	2	227699518	227699518	Human	1	name
13609531	CV517755	single nucleotide variant	NM_025243.4(SLC19A3):c.151A>G (p.Ile51Val)	Biotin-responsive basal ganglia disease [RCV000640708]\|not provided [RCV003318614]	uncertain significance	2	227699564	227699564	Human	1	name
13609537	CV517859	duplication	NM_025243.4(SLC19A3):c.597dup (p.His200fs)	Biotin-responsive basal ganglia disease [RCV000640712]\|not provided [RCV001268315]	pathogenic\|likely pathogenic	2	227699117	227699118	Human	1	name
13822522	CV561024	single nucleotide variant	NM_025243.4(SLC19A3):c.275T>C (p.Ile92Thr)	Biotin-responsive basal ganglia disease [RCV000697435]\|not provided [RCV004777840]	uncertain significance	2	227699440	227699440	Human	1	name
13835127	CV586383	single nucleotide variant	NM_025243.4(SLC19A3):c.106A>G (p.Ile36Val)	Biotin-responsive basal ganglia disease [RCV001046655]\|not provided [RCV000730839]	likely benign\|uncertain significance	2	227702213	227702213	Human	1	name
14395934	CV611566	single nucleotide variant	NM_025243.4(SLC19A3):c.189C>A (p.Tyr63Ter)	Biotin-responsive basal ganglia disease [RCV001387186]\|not provided [RCV000760653]	pathogenic	2	227699526	227699526	Human	1	name
14732597	CV629515	single nucleotide variant	NM_025243.4(SLC19A3):c.259G>T (p.Gly87Cys)	Biotin-responsive basal ganglia disease [RCV000801909]	uncertain significance	2	227699456	227699456	Human	1	name
14732107	CV629516	single nucleotide variant	NM_025243.4(SLC19A3):c.242C>T (p.Pro81Leu)	Biotin-responsive basal ganglia disease [RCV000818153]\|Inborn genetic diseases [RCV002535464]	uncertain significance	2	227699473	227699473	Human	2	name
14733184	CV629517	single nucleotide variant	NM_025243.4(SLC19A3):c.100T>G (p.Phe34Val)	Biotin-responsive basal ganglia disease [RCV000818608]	uncertain significance	2	227702219	227702219	Human	1	name
15125200	CV747391	single nucleotide variant	NM_025243.4(SLC19A3):c.1137C>T (p.Phe379=)	Biotin-responsive basal ganglia disease [RCV001437229]	likely benign	2	227695924	227695924	Human	1	name
15103679	CV763024	single nucleotide variant	NM_025243.4(SLC19A3):c.1449C>T (p.His483=)	Biotin-responsive basal ganglia disease [RCV001858596]	likely benign	2	227687439	227687439	Human	1	name
15101263	CV763025	single nucleotide variant	NM_025243.4(SLC19A3):c.1230C>T (p.Asn410=)	Biotin-responsive basal ganglia disease [RCV001450263]	likely benign	2	227688250	227688250	Human	1	name
26892096	CV825826	single nucleotide variant	NM_025243.4(SLC19A3):c.172G>T (p.Val58Phe)	Biotin-responsive basal ganglia disease [RCV001061337]	uncertain significance	2	227699543	227699543	Human	1	name
26901584	CV825827	single nucleotide variant	NM_025243.4(SLC19A3):c.168C>A (p.Phe56Leu)	Biotin-responsive basal ganglia disease [RCV001068683]	uncertain significance	2	227699547	227699547	Human	1	name
28905345	CV859139	single nucleotide variant	NM_025243.4(SLC19A3):c.280T>C (p.Trp94Arg)	Biotin-responsive basal ganglia disease [RCV001873462]\|not provided [RCV001093254]	pathogenic\|likely pathogenic	2	227699435	227699435	Human	1	name
38478320	CV922602	single nucleotide variant	NM_025243.4(SLC19A3):c.193G>C (p.Val65Leu)	Biotin-responsive basal ganglia disease [RCV001216545]	uncertain significance	2	227699522	227699522	Human	1	name
38482498	CV922603	single nucleotide variant	NM_025243.4(SLC19A3):c.169C>A (p.Pro57Thr)	Biotin-responsive basal ganglia disease [RCV001218486]	uncertain significance	2	227699546	227699546	Human	1	name
126749273	CV1003733	single nucleotide variant	NM_025243.4(SLC19A3):c.484G>A (p.Val162Ile)	Biotin-responsive basal ganglia disease [RCV001315689]	uncertain significance	2	227699231	227699231	Human	1	name
126772315	CV1024201	single nucleotide variant	NM_025243.4(SLC19A3):c.712C>T (p.Leu238Phe)	Biotin-responsive basal ganglia disease [RCV001345542]	uncertain significance	2	227699003	227699003	Human	1	name
126745133	CV1024202	single nucleotide variant	NM_025243.4(SLC19A3):c.607C>T (p.Pro203Ser)	Biotin-responsive basal ganglia disease [RCV001351366]\|not specified [RCV002509669]	uncertain significance	2	227699108	227699108	Human	1	name
126769961	CV1024203	single nucleotide variant	NM_025243.4(SLC19A3):c.530T>C (p.Leu177Ser)	Biotin-responsive basal ganglia disease [RCV001344210]	uncertain significance	2	227699185	227699185	Human	1	name
126766257	CV1024204	single nucleotide variant	NM_025243.4(SLC19A3):c.466G>T (p.Val156Leu)	Biotin-responsive basal ganglia disease [RCV001342353]	uncertain significance	2	227699249	227699249	Human	1	name
126921060	CV1041131	single nucleotide variant	NM_025243.4(SLC19A3):c.883G>A (p.Val295Ile)	Biotin-responsive basal ganglia disease [RCV001363253]	uncertain significance	2	227698832	227698832	Human	1	name
126921326	CV1041132	single nucleotide variant	NM_025243.4(SLC19A3):c.448G>A (p.Ala150Thr)	Biotin-responsive basal ganglia disease [RCV001374329]\|not provided [RCV004699347]	uncertain significance	2	227699267	227699267	Human	1	name
127244030	CV1053738	single nucleotide variant	NM_025243.4(SLC19A3):c.416T>A (p.Val139Glu)	Biotin-responsive basal ganglia disease [RCV001375973]\|not provided [RCV004720883]	likely pathogenic\|uncertain significance	2	227699299	227699299	Human	1	name
127257458	CV1059242	deletion	NM_025243.4(SLC19A3):c.1257del (p.Ile420fs)	Biotin-responsive basal ganglia disease [RCV001386752]	pathogenic	2	227688223	227688223	Human	1	name
127293008	CV1112464	single nucleotide variant	NM_025243.4(SLC19A3):c.941T>C (p.Ile314Thr)	Biotin-responsive basal ganglia disease [RCV001476467]	likely benign	2	227698774	227698774	Human	1	name
150417327	CV1196849	single nucleotide variant	NM_025243.4(SLC19A3):c.980G>A (p.Gly327Glu)	Biotin-responsive basal ganglia disease [RCV002568489]\|not provided [RCV001576249]	uncertain significance	2	227696081	227696081	Human	1	name
150483513	CV1210145	single nucleotide variant	NM_025243.4(SLC19A3):c.624G>T (p.Lys208Asn)	Biotin-responsive basal ganglia disease [RCV002579497]\|not provided [RCV001590844]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	227699091	227699091	Human	1	name
150529696	CV1292930	single nucleotide variant	NM_025243.4(SLC19A3):c.355G>T (p.Ala119Ser)	not provided [RCV001756323]	uncertain significance	2	227699360	227699360	Human		name
150548761	CV1294497	single nucleotide variant	NM_025243.4(SLC19A3):c.500T>A (p.Met167Lys)	not provided [RCV001751989]	uncertain significance	2	227699215	227699215	Human		name
150552484	CV1301466	single nucleotide variant	NM_025243.4(SLC19A3):c.488C>T (p.Ser163Phe)	Biotin-responsive basal ganglia disease [RCV003120675]\|not provided [RCV001767876]	uncertain significance	2	227699227	227699227	Human	1	name
150552485	CV1301467	single nucleotide variant	NM_025243.4(SLC19A3):c.472G>A (p.Ala158Thr)	not provided [RCV001767877]	uncertain significance	2	227699243	227699243	Human		name
151805576	CV1340081	single nucleotide variant	NM_025243.4(SLC19A3):c.738G>C (p.Lys246Asn)	Biotin-responsive basal ganglia disease [RCV001867521]\|not provided [RCV005401862]	uncertain significance	2	227698977	227698977	Human	1	name
151891403	CV1347039	single nucleotide variant	NM_025243.4(SLC19A3):c.622A>C (p.Lys208Gln)	Biotin-responsive basal ganglia disease [RCV002039107]	uncertain significance	2	227699093	227699093	Human	1	name
151828535	CV1348271	single nucleotide variant	NM_025243.4(SLC19A3):c.591G>A (p.Met197Ile)	Biotin-responsive basal ganglia disease [RCV001870301]\|not provided [RCV004998973]	uncertain significance	2	227699124	227699124	Human	1	name
8660701	CV135771	single nucleotide variant	NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile)	Biotin-responsive basal ganglia disease [RCV001083046]\|not provided [RCV000676552]\|not specified [RCV000118362]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	227699195	227699195	Human	1	name
151827412	CV1360023	single nucleotide variant	NM_025243.4(SLC19A3):c.421G>T (p.Gly141Cys)	Biotin-responsive basal ganglia disease [RCV002050385]	uncertain significance	2	227699294	227699294	Human	1	name
151867747	CV1366580	single nucleotide variant	NM_025243.4(SLC19A3):c.855G>A (p.Trp285Ter)	Biotin-responsive basal ganglia disease [RCV001939377]	pathogenic	2	227698860	227698860	Human	1	name
151712553	CV1370892	single nucleotide variant	NM_025243.4(SLC19A3):c.961G>A (p.Ala321Thr)	Biotin-responsive basal ganglia disease [RCV001908303]	uncertain significance	2	227698754	227698754	Human	1	name
151738183	CV1379126	single nucleotide variant	NM_025243.4(SLC19A3):c.892T>G (p.Tyr298Asp)	Biotin-responsive basal ganglia disease [RCV001911659]	uncertain significance	2	227698823	227698823	Human	1	name
151883222	CV1384126	single nucleotide variant	NM_025243.4(SLC19A3):c.948T>G (p.Asn316Lys)	Biotin-responsive basal ganglia disease [RCV001886891]	uncertain significance	2	227698767	227698767	Human	1	name
151744860	CV1400915	single nucleotide variant	NM_025243.4(SLC19A3):c.715A>G (p.Ser239Gly)	Biotin-responsive basal ganglia disease [RCV002022703]	uncertain significance	2	227699000	227699000	Human	1	name
151844781	CV1414881	single nucleotide variant	NM_025243.4(SLC19A3):c.923C>T (p.Pro308Leu)	Biotin-responsive basal ganglia disease [RCV001903287]\|not provided [RCV002511107]	uncertain significance	2	227698792	227698792	Human	1	name
151730336	CV1420497	single nucleotide variant	NM_025243.4(SLC19A3):c.779A>G (p.Asp260Gly)	Biotin-responsive basal ganglia disease [RCV002041129]	uncertain significance	2	227698936	227698936	Human	1	name
151824784	CV1421153	single nucleotide variant	NM_025243.4(SLC19A3):c.737A>C (p.Lys246Thr)	Biotin-responsive basal ganglia disease [RCV001869962]	uncertain significance	2	227698978	227698978	Human	1	name
151840618	CV1423615	single nucleotide variant	NM_025243.4(SLC19A3):c.766A>G (p.Asn256Asp)	Biotin-responsive basal ganglia disease [RCV001977643]	uncertain significance	2	227698949	227698949	Human	1	name
8692860	CV142826	single nucleotide variant	NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser)	Biotin-responsive basal ganglia disease [RCV000528317]\|not provided [RCV000426605]\|not specified [RCV000177348]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	227699294	227699294	Human	1	name
151872072	CV1429960	single nucleotide variant	NM_025243.4(SLC19A3):c.539T>C (p.Val180Ala)	Biotin-responsive basal ganglia disease [RCV002019086]	uncertain significance	2	227699176	227699176	Human	1	name
151743373	CV1431138	single nucleotide variant	NM_025243.4(SLC19A3):c.406T>C (p.Tyr136His)	Biotin-responsive basal ganglia disease [RCV001893496]	uncertain significance	2	227699309	227699309	Human	1	name
151827748	CV1435493	single nucleotide variant	NM_025243.4(SLC19A3):c.586A>G (p.Ser196Gly)	Biotin-responsive basal ganglia disease [RCV001955372]	uncertain significance	2	227699129	227699129	Human	1	name
151801563	CV1439375	single nucleotide variant	NM_025243.4(SLC19A3):c.955G>A (p.Val319Ile)	Biotin-responsive basal ganglia disease [RCV001991003]\|not provided [RCV002274244]	uncertain significance	2	227698760	227698760	Human	1	name
151781649	CV1446396	single nucleotide variant	NM_025243.4(SLC19A3):c.989C>A (p.Ala330Asp)	Biotin-responsive basal ganglia disease [RCV001989190]	uncertain significance	2	227696072	227696072	Human	1	name
151807489	CV1450125	single nucleotide variant	NM_025243.4(SLC19A3):c.997G>A (p.Ala333Thr)	Biotin-responsive basal ganglia disease [RCV001899632]	uncertain significance	2	227696064	227696064	Human	1	name
151767958	CV1450729	single nucleotide variant	NM_025243.4(SLC19A3):c.869C>T (p.Ala290Val)	Biotin-responsive basal ganglia disease [RCV001929238]	uncertain significance	2	227698846	227698846	Human	1	name
151740507	CV1451804	single nucleotide variant	NM_025243.4(SLC19A3):c.931G>T (p.Asp311Tyr)	Biotin-responsive basal ganglia disease [RCV002022281]	uncertain significance	2	227698784	227698784	Human	1	name
151852658	CV1459028	single nucleotide variant	NM_025243.4(SLC19A3):c.622A>G (p.Lys208Glu)	Biotin-responsive basal ganglia disease [RCV002016795]	uncertain significance	2	227699093	227699093	Human	1	name
151837155	CV1469774	single nucleotide variant	NM_025243.4(SLC19A3):c.403C>A (p.His135Asn)	Biotin-responsive basal ganglia disease [RCV001880918]	uncertain significance	2	227699312	227699312	Human	1	name
151892476	CV1481168	single nucleotide variant	NM_025243.4(SLC19A3):c.558C>G (p.Phe186Leu)	Biotin-responsive basal ganglia disease [RCV001944152]	uncertain significance	2	227699157	227699157	Human	1	name
151727798	CV1486422	single nucleotide variant	NM_025243.4(SLC19A3):c.835T>C (p.Phe279Leu)	Biotin-responsive basal ganglia disease [RCV001891931]	uncertain significance	2	227698880	227698880	Human	1	name
151864061	CV1498668	single nucleotide variant	NM_025243.4(SLC19A3):c.316A>G (p.Met106Val)	Biotin-responsive basal ganglia disease [RCV001980501]	uncertain significance	2	227699399	227699399	Human	1	name
151761468	CV1502902	single nucleotide variant	NM_025243.4(SLC19A3):c.679G>A (p.Gly227Ser)	Biotin-responsive basal ganglia disease [RCV001914036]	uncertain significance	2	227699036	227699036	Human	1	name
155743005	CV1777460	single nucleotide variant	NM_025243.4(SLC19A3):c.503C>T (p.Ser168Leu)	Biotin-responsive basal ganglia disease [RCV002302961]	uncertain significance	2	227699212	227699212	Human	1	name
155798413	CV1860663	single nucleotide variant	NM_025243.4(SLC19A3):c.718A>C (p.Thr240Pro)	not provided [RCV002467305]	uncertain significance	2	227698997	227698997	Human		name
156221865	CV1879333	single nucleotide variant	NM_025243.4(SLC19A3):c.919G>C (p.Ala307Pro)	Biotin-responsive basal ganglia disease [RCV003058971]	uncertain significance	2	227698796	227698796	Human	1	name
155986828	CV1884076	single nucleotide variant	NM_025243.4(SLC19A3):c.826A>C (p.Lys276Gln)	Biotin-responsive basal ganglia disease [RCV003075925]	uncertain significance	2	227698889	227698889	Human	1	name
156155011	CV1896218	single nucleotide variant	NM_025243.4(SLC19A3):c.612C>G (p.Ser204Arg)	Biotin-responsive basal ganglia disease [RCV003082682]	uncertain significance	2	227699103	227699103	Human	1	name
156078435	CV1908781	single nucleotide variant	NM_025243.4(SLC19A3):c.751A>G (p.Ser251Gly)	Biotin-responsive basal ganglia disease [RCV002591494]	uncertain significance	2	227698964	227698964	Human	1	name
156418411	CV1911072	single nucleotide variant	NM_025243.4(SLC19A3):c.368A>G (p.Tyr123Cys)	Biotin-responsive basal ganglia disease [RCV002611600]	uncertain significance	2	227699347	227699347	Human	1	name
156418571	CV1922340	single nucleotide variant	NM_025243.4(SLC19A3):c.356C>T (p.Ala119Val)	Biotin-responsive basal ganglia disease [RCV002611770]	uncertain significance	2	227699359	227699359	Human	1	name
156290803	CV1926499	single nucleotide variant	NM_025243.4(SLC19A3):c.491T>C (p.Leu164Pro)	Biotin-responsive basal ganglia disease [RCV002628805]	uncertain significance	2	227699224	227699224	Human	1	name
156159480	CV1933127	single nucleotide variant	NM_025243.4(SLC19A3):c.955G>C (p.Val319Leu)	Biotin-responsive basal ganglia disease [RCV002624311]	uncertain significance	2	227698760	227698760	Human	1	name
8596482	CV19605	single nucleotide variant	NM_025243.4(SLC19A3):c.958G>C (p.Glu320Gln)	Biotin-responsive basal ganglia disease [RCV000004828]	pathogenic	2	227698757	227698757	Human	1	name
156374883	CV1963469	single nucleotide variant	NM_025243.4(SLC19A3):c.752G>A (p.Ser251Asn)	Biotin-responsive basal ganglia disease [RCV002582720]	uncertain significance	2	227698963	227698963	Human	1	name
156246078	CV1996570	single nucleotide variant	NM_025243.4(SLC19A3):c.919G>T (p.Ala307Ser)	Biotin-responsive basal ganglia disease [RCV002668096]	uncertain significance	2	227698796	227698796	Human	1	name
156233416	CV2019898	single nucleotide variant	NM_025243.4(SLC19A3):c.523A>G (p.Ile175Val)	Biotin-responsive basal ganglia disease [RCV002701451]	uncertain significance	2	227699192	227699192	Human	1	name
156287882	CV2050266	single nucleotide variant	NM_025243.4(SLC19A3):c.859T>C (p.Phe287Leu)	Biotin-responsive basal ganglia disease [RCV002807226]	uncertain significance	2	227698856	227698856	Human	1	name
156056984	CV2050632	single nucleotide variant	NM_025243.4(SLC19A3):c.542C>T (p.Ser181Phe)	Biotin-responsive basal ganglia disease [RCV002796960]	uncertain significance	2	227699173	227699173	Human	1	name
156241252	CV2053104	single nucleotide variant	NM_025243.4(SLC19A3):c.644C>T (p.Pro215Leu)	Biotin-responsive basal ganglia disease [RCV002791360]	uncertain significance	2	227699071	227699071	Human	1	name
156003569	CV2057604	single nucleotide variant	NM_025243.4(SLC19A3):c.499A>G (p.Met167Val)	Biotin-responsive basal ganglia disease [RCV002819770]	uncertain significance	2	227699216	227699216	Human	1	name
155937129	CV2058086	single nucleotide variant	NM_025243.4(SLC19A3):c.347T>G (p.Val116Gly)	Biotin-responsive basal ganglia disease [RCV002815449]	uncertain significance	2	227699368	227699368	Human	1	name
156084946	CV2060458	single nucleotide variant	NM_025243.4(SLC19A3):c.769G>A (p.Val257Met)	Biotin-responsive basal ganglia disease [RCV002823978]	uncertain significance	2	227698946	227698946	Human	1	name
156201706	CV2062966	single nucleotide variant	NM_025243.4(SLC19A3):c.457G>A (p.Ala153Thr)	Biotin-responsive basal ganglia disease [RCV002828962]	uncertain significance	2	227699258	227699258	Human	1	name
10404448	CV206942	single nucleotide variant	NM_025243.4(SLC19A3):c.544G>A (p.Val182Met)	Biotin-responsive basal ganglia disease [RCV001853110]\|not specified [RCV000195083]	uncertain significance	2	227699171	227699171	Human	1	name
156095625	CV2102893	single nucleotide variant	NM_025243.4(SLC19A3):c.334T>G (p.Phe112Val)	Biotin-responsive basal ganglia disease [RCV002913203]	uncertain significance	2	227699381	227699381	Human	1	name
10411643	CV210792	single nucleotide variant	NM_025243.4(SLC19A3):c.865A>G (p.Thr289Ala)	Biotin-responsive basal ganglia disease [RCV001853198]\|not provided [RCV000200692]	uncertain significance	2	227698850	227698850	Human	1	name
10409721	CV210793	single nucleotide variant	NM_025243.4(SLC19A3):c.662A>C (p.His221Pro)	Biotin-responsive basal ganglia disease [RCV002515432]\|not specified [RCV000196692]	likely benign\|uncertain significance	2	227699053	227699053	Human	1	name
10411106	CV210794	single nucleotide variant	NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met)	Biotin-responsive basal ganglia disease [RCV000530460]\|SLC19A3-related disorder [RCV003955195]\|not provided [RCV000415854]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	227699094	227699094	Human	1	name , trait , alternate_id
10410200	CV210795	single nucleotide variant	NM_025243.4(SLC19A3):c.557T>C (p.Phe186Ser)	Biotin-responsive basal ganglia disease [RCV000539133]\|not provided [RCV001722096]	likely benign\|uncertain significance	2	227699158	227699158	Human	1	name
156156443	CV2150822	single nucleotide variant	NM_025243.4(SLC19A3):c.574A>G (p.Met192Val)	Biotin-responsive basal ganglia disease [RCV003023035]	uncertain significance	2	227699141	227699141	Human	1	name
156082891	CV2169138	single nucleotide variant	NM_025243.4(SLC19A3):c.398C>T (p.Pro133Leu)	Biotin-responsive basal ganglia disease [RCV003037945]\|Inborn genetic diseases [RCV004963348]	uncertain significance	2	227699317	227699317	Human	2	name
156001845	CV2170049	single nucleotide variant	NM_025243.4(SLC19A3):c.312G>T (p.Lys104Asn)	Biotin-responsive basal ganglia disease [RCV003017311]	uncertain significance	2	227699403	227699403	Human	1	name
156353987	CV2190672	single nucleotide variant	NM_025243.4(SLC19A3):c.881A>G (p.Gln294Arg)	Biotin-responsive basal ganglia disease [RCV003048544]	uncertain significance	2	227698834	227698834	Human	1	name
155967606	CV2265788	single nucleotide variant	NM_025243.4(SLC19A3):c.582G>T (p.Lys194Asn)	Inborn genetic diseases [RCV002817413]	uncertain significance	2	227699133	227699133	Human	1	name
329955081	CV2671022	single nucleotide variant	NM_025243.4(SLC19A3):c.414A>T (p.Arg138Ser)	not specified [RCV003236291]	uncertain significance	2	227699301	227699301	Human		name
11636822	CV270144	single nucleotide variant	NM_025243.4(SLC19A3):c.325G>A (p.Val109Ile)	Biotin-responsive basal ganglia disease [RCV000813702]\|not provided [RCV000273994]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	227699390	227699390	Human	1	name
401930237	CV2818997	single nucleotide variant	NM_025243.4(SLC19A3):c.328G>A (p.Glu110Lys)	not provided [RCV003440208]	uncertain significance	2	227699387	227699387	Human		name
401961502	CV2843845	single nucleotide variant	NM_025243.4(SLC19A3):c.307G>A (p.Val103Met)	not provided [RCV003481684]	uncertain significance	2	227699408	227699408	Human		name
11594176	CV285783	indel	NM_025243.4(SLC19A3):c.2130_2132delinsCGC	Thiamine Metabolism Dysfunction Syndrome [RCV000356402]	uncertain significance	2	227685265	227685267	Human		name
402483406	CV2858943	single nucleotide variant	NM_025243.4(SLC19A3):c.795G>A (p.Trp265Ter)	Biotin-responsive basal ganglia disease [RCV003502958]	pathogenic	2	227698920	227698920	Human	1	name
402483694	CV2869119	single nucleotide variant	NM_025243.4(SLC19A3):c.493G>C (p.Ala165Pro)	Biotin-responsive basal ganglia disease [RCV003503867]	uncertain significance	2	227699222	227699222	Human	1	name
11597671	CV288148	single nucleotide variant	NM_025243.4(SLC19A3):c.977G>T (p.Gly326Val)	Biotin-responsive basal ganglia disease [RCV000684964]\|Inborn genetic diseases [RCV002521413]\|not provided [RCV001556309]	uncertain significance	2	227698738	227698738	Human	2	name
11593250	CV288156	single nucleotide variant	NM_025243.4(SLC19A3):c.613A>G (p.Arg205Gly)	Biotin-responsive basal ganglia disease [RCV000556127]\|Inborn genetic diseases [RCV002523120]\|Intellectual disability [RCV001251644]\|not provided [RCV003311766]\|not specified [RCV000443556]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	227699102	227699102	Human	4	name
402483827	CV2894118	deletion	NM_025243.4(SLC19A3):c.1403del (p.Lys468fs)	Biotin-responsive basal ganglia disease [RCV003504465]	likely pathogenic	2	227687485	227687485	Human	1	name
402483879	CV2894463	single nucleotide variant	NM_025243.4(SLC19A3):c.507C>G (p.Tyr169Ter)	Biotin-responsive basal ganglia disease [RCV003504529]	pathogenic	2	227699208	227699208	Human	1	name
402483531	CV2932631	single nucleotide variant	NM_025243.4(SLC19A3):c.513C>A (p.Tyr171Ter)	Biotin-responsive basal ganglia disease [RCV003503422]	pathogenic	2	227699202	227699202	Human	1	name
405030323	CV2947213	single nucleotide variant	NM_025243.4(SLC19A3):c.816C>A (p.Cys272Ter)	Biotin-responsive basal ganglia disease [RCV003611727]	pathogenic	2	227698899	227698899	Human	1	name
405031933	CV2958186	single nucleotide variant	NM_025243.4(SLC19A3):c.968C>G (p.Ala323Gly)	Biotin-responsive basal ganglia disease [RCV003611922]	benign	2	227698747	227698747	Human	1	name
405030779	CV2992115	duplication	NM_025243.4(SLC19A3):c.1212dup (p.Val406fs)	Biotin-responsive basal ganglia disease [RCV003613096]	pathogenic	2	227688267	227688268	Human	1	name
405030846	CV3003491	single nucleotide variant	NM_025243.4(SLC19A3):c.475C>T (p.Gln159Ter)	Biotin-responsive basal ganglia disease [RCV003613171]	pathogenic	2	227699240	227699240	Human	1	name
407428321	CV3410097	single nucleotide variant	NM_025243.4(SLC19A3):c.959A>C (p.Glu320Ala)	not specified [RCV004587705]	uncertain significance	2	227698756	227698756	Human		name
407508869	CV3477295	single nucleotide variant	NM_025243.4(SLC19A3):c.861C>A (p.Phe287Leu)	Inborn genetic diseases [RCV004672184]	likely benign	2	227698854	227698854	Human	1	name
407477117	CV3495056	single nucleotide variant	NM_025243.4(SLC19A3):c.326T>C (p.Val109Ala)	not specified [RCV004690958]	uncertain significance	2	227699389	227699389	Human		name
408375281	CV3502596	single nucleotide variant	NM_025243.4(SLC19A3):c.479T>C (p.Leu160Pro)	not provided [RCV004726183]	likely pathogenic	2	227699236	227699236	Human		name
408394054	CV3526191	single nucleotide variant	NM_025243.4(SLC19A3):c.950G>A (p.Gly317Glu)	Biotin-responsive basal ganglia disease [RCV004771623]	likely pathogenic	2	227698765	227698765	Human	1	name
408387364	CV3527035	single nucleotide variant	NM_025243.4(SLC19A3):c.752G>T (p.Ser251Ile)	not provided [RCV004773337]	uncertain significance	2	227698963	227698963	Human		name
11632445	CV353888	single nucleotide variant	NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His)	Biotin-responsive basal ganglia disease [RCV000408622]\|not provided [RCV001546114]	pathogenic\|likely pathogenic	2	227699378	227699378	Human	1	name
11664848	CV353889	duplication	NM_025243.4(SLC19A3):c.81_82dup (p.Met28fs)	Biotin-responsive basal ganglia disease [RCV000408606]\|not provided [RCV000790727]	pathogenic\|likely pathogenic	2	227702236	227702237	Human	1	name
597639488	CV3596380	single nucleotide variant	NM_025243.4(SLC19A3):c.605A>G (p.Lys202Arg)	Inborn genetic diseases [RCV004971230]	uncertain significance	2	227699110	227699110	Human	1	name
597954531	CV3786705	single nucleotide variant	NM_025243.4(SLC19A3):c.843G>A (p.Trp281Ter)	Biotin-responsive basal ganglia disease [RCV005121796]	pathogenic	2	227698872	227698872	Human	1	name
598124075	CV3884134	single nucleotide variant	NM_025243.4(SLC19A3):c.646G>T (p.Val216Leu)	Biotin-responsive basal ganglia disease [RCV005234902]	uncertain significance	2	227699069	227699069	Human	1	name
598124684	CV3885331	single nucleotide variant	NM_025243.4(SLC19A3):c.448G>C (p.Ala150Pro)	not specified [RCV005239908]	uncertain significance	2	227699267	227699267	Human		name
598216425	CV3891417	single nucleotide variant	NM_025243.4(SLC19A3):c.479T>G (p.Leu160Arg)	Biotin-responsive basal ganglia disease [RCV005252259]	uncertain significance	2	227699236	227699236	Human	1	name
616933861	CV4011832	single nucleotide variant	NM_025243.4(SLC19A3):c.958G>A (p.Glu320Lys)	not specified [RCV005408381]	uncertain significance	2	227698757	227698757	Human		name
617151950	CV4018215	single nucleotide variant	NM_025243.4(SLC19A3):c.517A>G (p.Asn173Asp)	Biotin-responsive basal ganglia disease [RCV005418475]	likely pathogenic	2	227699198	227699198	Human	1	name
617154358	CV4022636	single nucleotide variant	NM_025243.4(SLC19A3):c.710T>C (p.Ile237Thr)	not provided [RCV005429994]	uncertain significance	2	227699005	227699005	Human		name
12913193	CV421367	single nucleotide variant	NM_025243.4(SLC19A3):c.488C>A (p.Ser163Tyr)	not provided [RCV000493510]\|not specified [RCV004782402]	likely pathogenic\|uncertain significance	2	227699227	227699227	Human		name
12913684	CV421368	single nucleotide variant	NM_025243.4(SLC19A3):c.464C>T (p.Ser155Leu)	not provided [RCV000494124]\|not specified [RCV004767302]	pathogenic\|likely pathogenic\|uncertain significance	2	227699251	227699251	Human		name
13612865	CV432353	single nucleotide variant	NM_025243.4(SLC19A3):c.962C>T (p.Ala321Val)	Biotin-responsive basal ganglia disease [RCV000656116]	pathogenic	2	227698753	227698753	Human	1	name
13612866	CV432354	single nucleotide variant	NM_025243.4(SLC19A3):c.850T>C (p.Trp284Arg)	Biotin-responsive basal ganglia disease [RCV000656117]	pathogenic	2	227698865	227698865	Human	1	name
13465588	CV450398	single nucleotide variant	NM_025243.4(SLC19A3):c.697C>G (p.Pro233Ala)	Biotin-responsive basal ganglia disease [RCV000542921]\|not provided [RCV001805172]	uncertain significance	2	227699018	227699018	Human	1	name
13473210	CV450544	single nucleotide variant	NM_025243.4(SLC19A3):c.461G>A (p.Gly154Glu)	Biotin-responsive basal ganglia disease [RCV000525273]\|Inborn genetic diseases [RCV002528394]\|not provided [RCV001755834]	uncertain significance	2	227699254	227699254	Human	2	name
13468295	CV450761	single nucleotide variant	NM_025243.4(SLC19A3):c.914A>G (p.Tyr305Cys)	Biotin-responsive basal ganglia disease [RCV000544428]\|not provided [RCV001799679]	uncertain significance	2	227698801	227698801	Human	1	name
13508743	CV481464	single nucleotide variant	NM_025243.4(SLC19A3):c.541T>C (p.Ser181Pro)	Biotin-responsive basal ganglia disease [RCV000578309]	pathogenic	2	227699174	227699174	Human	1	name
13517053	CV493424	single nucleotide variant	NM_025243.4(SLC19A3):c.466G>A (p.Val156Met)	Biotin-responsive basal ganglia disease [RCV001366890]\|not provided [RCV000596273]	uncertain significance	2	227699249	227699249	Human	1	name
13609535	CV517754	single nucleotide variant	NM_025243.4(SLC19A3):c.781G>A (p.Val261Ile)	Biotin-responsive basal ganglia disease [RCV000640711]	uncertain significance	2	227698934	227698934	Human	1	name
13609528	CV517857	single nucleotide variant	NM_025243.4(SLC19A3):c.637G>C (p.Val213Leu)	Biotin-responsive basal ganglia disease [RCV000640706]	uncertain significance	2	227699078	227699078	Human	1	name
13609526	CV517940	single nucleotide variant	NM_025243.4(SLC19A3):c.917A>G (p.Lys306Arg)	Biotin-responsive basal ganglia disease [RCV000640705]	uncertain significance	2	227698798	227698798	Human	1	name
13627069	CV517948	single nucleotide variant	NM_025243.4(SLC19A3):c.587G>A (p.Ser196Asn)	Biotin-responsive basal ganglia disease [RCV000640709]	uncertain significance	2	227699128	227699128	Human	1	name
13609530	CV517953	single nucleotide variant	NM_025243.4(SLC19A3):c.436G>A (p.Val146Ile)	Biotin-responsive basal ganglia disease [RCV001087388]\|SLC19A3-related disorder [RCV003953140]\|not provided [RCV000733532]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	227699279	227699279	Human	1	name , trait , alternate_id
13811136	CV557894	duplication	NM_025243.4(SLC19A3):c.1079dup (p.Leu360fs)	Biotin-responsive basal ganglia disease [RCV000702941]	pathogenic\|likely pathogenic	2	227695981	227695982	Human	1	name
13822073	CV557898	single nucleotide variant	NM_025243.4(SLC19A3):c.494C>A (p.Ala165Glu)	Biotin-responsive basal ganglia disease [RCV000696773]\|Inborn genetic diseases [RCV002534334]	uncertain significance	2	227699221	227699221	Human	2	name
13814822	CV561007	single nucleotide variant	NM_025243.4(SLC19A3):c.862G>A (p.Ala288Thr)	Biotin-responsive basal ganglia disease [RCV000691146]\|Inborn genetic diseases [RCV004025073]	uncertain significance	2	227698853	227698853	Human	2	name
13801855	CV561014	single nucleotide variant	NM_025243.4(SLC19A3):c.400G>A (p.Glu134Lys)	Biotin-responsive basal ganglia disease [RCV000698025]\|not provided [RCV004692153]	uncertain significance	2	227699315	227699315	Human	1	name
13801531	CV576668	single nucleotide variant	NM_025243.4(SLC19A3):c.896T>C (p.Val299Ala)	not provided [RCV000713318]	uncertain significance	2	227698819	227698819	Human		name
13836157	CV587427	single nucleotide variant	NM_025243.4(SLC19A3):c.562C>G (p.Leu188Val)	Biotin-responsive basal ganglia disease [RCV000800842]\|Inborn genetic diseases [RCV004027031]\|not provided [RCV000732174]	likely benign\|uncertain significance	2	227699153	227699153	Human	2	name
14695685	CV622868	single nucleotide variant	NM_025243.4(SLC19A3):c.548C>T (p.Ala183Val)	Biotin-responsive basal ganglia disease [RCV000785910]	conflicting interpretations of pathogenicity\|uncertain significance	2	227699167	227699167	Human	1	name
14713507	CV629512	single nucleotide variant	NM_025243.4(SLC19A3):c.998C>T (p.Ala333Val)	Biotin-responsive basal ganglia disease [RCV000794115]	uncertain significance	2	227696063	227696063	Human	1	name
14730180	CV629513	single nucleotide variant	NM_025243.4(SLC19A3):c.761C>G (p.Pro254Arg)	Biotin-responsive basal ganglia disease [RCV000817266]\|Inborn genetic diseases [RCV004678845]	uncertain significance	2	227698954	227698954	Human	2	name
14727015	CV629514	single nucleotide variant	NM_025243.4(SLC19A3):c.611G>A (p.Ser204Asn)	Biotin-responsive basal ganglia disease [RCV000815888]\|not provided [RCV002284442]	likely benign\|uncertain significance	2	227699104	227699104	Human	1	name
14709052	CV658954	deletion	NM_025243.4(SLC19A3):c.1172+273_1172+277del	not provided [RCV000833064]	benign	2	227695612	227695616	Human		name
15108233	CV708086	single nucleotide variant	NM_025243.4(SLC19A3):c.779A>T (p.Asp260Val)	Biotin-responsive basal ganglia disease [RCV000960445]	likely benign	2	227698936	227698936	Human	1	name
15165288	CV719684	single nucleotide variant	NM_025243.4(SLC19A3):c.901A>G (p.Ile301Val)	Biotin-responsive basal ganglia disease [RCV000882379]	likely benign	2	227698814	227698814	Human	1	name
15108172	CV763029	single nucleotide variant	NM_025243.4(SLC19A3):c.335T>C (p.Phe112Ser)	Biotin-responsive basal ganglia disease [RCV000938104]\|not provided [RCV001564416]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	227699380	227699380	Human	1	name
21068057	CV795186	single nucleotide variant	NM_025243.4(SLC19A3):c.532G>A (p.Ala178Thr)	Biotin-responsive basal ganglia disease [RCV001067742]\|not provided [RCV000997693]	uncertain significance	2	227699183	227699183	Human	1	name
21068058	CV795187	single nucleotide variant	NM_025243.4(SLC19A3):c.355G>A (p.Ala119Thr)	Biotin-responsive basal ganglia disease [RCV001038260]\|not provided [RCV000997694]	uncertain significance	2	227699360	227699360	Human	1	name
26884968	CV825820	single nucleotide variant	NM_025243.4(SLC19A3):c.854G>A (p.Trp285Ter)	Biotin-responsive basal ganglia disease [RCV001052853]\|Inborn genetic diseases [RCV002553297]\|SLC19A3-related disorder [RCV003898057]\|not provided [RCV001819772]	pathogenic\|likely pathogenic	2	227698861	227698861	Human	2	name , trait , alternate_id
26920021	CV825821	single nucleotide variant	NM_025243.4(SLC19A3):c.680G>A (p.Gly227Asp)	Biotin-responsive basal ganglia disease [RCV001046822]	uncertain significance	2	227699035	227699035	Human	1	name
26892398	CV825822	single nucleotide variant	NM_025243.4(SLC19A3):c.670G>A (p.Glu224Lys)	Biotin-responsive basal ganglia disease [RCV001061721]	uncertain significance	2	227699045	227699045	Human	1	name
26886298	CV825823	single nucleotide variant	NM_025243.4(SLC19A3):c.412A>G (p.Arg138Gly)	Biotin-responsive basal ganglia disease [RCV001054776]\|not provided [RCV005251246]	uncertain significance	2	227699303	227699303	Human	1	name
26921110	CV825824	single nucleotide variant	NM_025243.4(SLC19A3):c.382T>C (p.Tyr128His)	Biotin-responsive basal ganglia disease [RCV001049208]	uncertain significance	2	227699333	227699333	Human	1	name
26899887	CV825825	single nucleotide variant	NM_025243.4(SLC19A3):c.373G>A (p.Ala125Thr)	Biotin-responsive basal ganglia disease [RCV001067418]\|not provided [RCV001732034]	uncertain significance	2	227699342	227699342	Human	1	name
28910914	CV859138	single nucleotide variant	NM_025243.4(SLC19A3):c.894T>G (p.Tyr298Ter)	Biotin-responsive basal ganglia disease [RCV001809982]\|not provided [RCV001093253]	pathogenic	2	227698821	227698821	Human	1	name
28898664	CV884082	single nucleotide variant	NM_025243.4(SLC19A3):c.982G>A (p.Ala328Thr)	Biotin-responsive basal ganglia disease [RCV001142077]	uncertain significance	2	227696079	227696079	Human	1	name
28884726	CV884084	single nucleotide variant	NM_025243.4(SLC19A3):c.636C>A (p.Ser212Arg)	Biotin-responsive basal ganglia disease [RCV001137316]	uncertain significance	2	227699079	227699079	Human	1	name
34890848	CV905869	single nucleotide variant	NM_025243.4(SLC19A3):c.905T>C (p.Leu302Pro)	Biotin-responsive basal ganglia disease [RCV001174545]	likely pathogenic\|uncertain significance	2	227698810	227698810	Human	1	name
38474000	CV922599	single nucleotide variant	NM_025243.4(SLC19A3):c.862G>C (p.Ala288Pro)	Biotin-responsive basal ganglia disease [RCV001214556]\|not provided [RCV001760189]	uncertain significance	2	227698853	227698853	Human	1	name
38474386	CV922600	single nucleotide variant	NM_025243.4(SLC19A3):c.551T>C (p.Phe184Ser)	Biotin-responsive basal ganglia disease [RCV001214715]\|Inborn genetic diseases [RCV005278767]	uncertain significance	2	227699164	227699164	Human	2	name
38475379	CV922601	single nucleotide variant	NM_025243.4(SLC19A3):c.482T>C (p.Leu161Ser)	Biotin-responsive basal ganglia disease [RCV001215150]	uncertain significance	2	227699233	227699233	Human	1	name
38465344	CV931169	single nucleotide variant	NM_025243.4(SLC19A3):c.785T>C (p.Phe262Ser)	Biotin-responsive basal ganglia disease [RCV001212631]	uncertain significance	2	227698930	227698930	Human	1	name
38479290	CV931170	single nucleotide variant	NM_025243.4(SLC19A3):c.553C>A (p.Leu185Ile)	Biotin-responsive basal ganglia disease [RCV001205914]	uncertain significance	2	227699162	227699162	Human	1	name
38477989	CV931171	single nucleotide variant	NM_025243.4(SLC19A3):c.346G>A (p.Val116Ile)	Biotin-responsive basal ganglia disease [RCV001205346]	uncertain significance	2	227699369	227699369	Human	1	name
38477854	CV942634	single nucleotide variant	NM_025243.4(SLC19A3):c.893A>G (p.Tyr298Cys)	Biotin-responsive basal ganglia disease [RCV001233655]	uncertain significance	2	227698822	227698822	Human	1	name
38479315	CV942635	single nucleotide variant	NM_025243.4(SLC19A3):c.402G>C (p.Glu134Asp)	Biotin-responsive basal ganglia disease [RCV001234276]	uncertain significance	2	227699313	227699313	Human	1	name
38495879	CV942636	single nucleotide variant	NM_025243.4(SLC19A3):c.384C>G (p.Tyr128Ter)	Biotin-responsive basal ganglia disease [RCV001226019]	pathogenic	2	227699331	227699331	Human	1	name
38458621	CV952963	single nucleotide variant	NM_025243.4(SLC19A3):c.518A>G (p.Asn173Ser)	Biotin-responsive basal ganglia disease [RCV001246380]\|not provided [RCV005429320]	uncertain significance	2	227699197	227699197	Human	1	name
126763582	CV988417	deletion	NM_025243.4(SLC19A3):c.1374del (p.Met458fs)	Biotin-responsive basal ganglia disease [RCV001300761]	uncertain significance	2	227687514	227687514	Human	1	name
126746295	CV988420	single nucleotide variant	NM_025243.4(SLC19A3):c.577C>T (p.Pro193Ser)	Biotin-responsive basal ganglia disease [RCV001296557]	uncertain significance	2	227699138	227699138	Human	1	name
126758436	CV988421	single nucleotide variant	NM_025243.4(SLC19A3):c.396C>A (p.Ser132Arg)	Biotin-responsive basal ganglia disease [RCV001299185]	uncertain significance	2	227699319	227699319	Human	1	name
126743589	CV988422	single nucleotide variant	NM_025243.4(SLC19A3):c.388G>A (p.Val130Met)	Biotin-responsive basal ganglia disease [RCV001305721]	uncertain significance	2	227699327	227699327	Human	1	name
126725799	CV988423	single nucleotide variant	NM_025243.4(SLC19A3):c.383A>G (p.Tyr128Cys)	Biotin-responsive basal ganglia disease [RCV001302686]\|not provided [RCV001729844]	uncertain significance	2	227699332	227699332	Human	1	name
126768099	CV1003728	single nucleotide variant	NM_025243.4(SLC19A3):c.1352G>A (p.Gly451Glu)	Biotin-responsive basal ganglia disease [RCV001321163]\|not provided [RCV005251273]	uncertain significance	2	227687536	227687536	Human	1	name
126745651	CV1003729	single nucleotide variant	NM_025243.4(SLC19A3):c.1300C>T (p.Pro434Ser)	Biotin-responsive basal ganglia disease [RCV001315098]	uncertain significance	2	227688180	227688180	Human	1	name
126756017	CV1003730	single nucleotide variant	NM_025243.4(SLC19A3):c.1215G>T (p.Leu405Phe)	Biotin-responsive basal ganglia disease [RCV001317080]\|not provided [RCV003442842]	uncertain significance	2	227688265	227688265	Human	1	name
126770556	CV1003731	single nucleotide variant	NM_025243.4(SLC19A3):c.1204C>G (p.Arg402Gly)	Biotin-responsive basal ganglia disease [RCV001322644]\|See cases [RCV002252360]\|not provided [RCV001760408]	uncertain significance	2	227688276	227688276	Human	1	name
126730123	CV1003732	single nucleotide variant	NM_025243.4(SLC19A3):c.1166T>C (p.Ile389Thr)	Biotin-responsive basal ganglia disease [RCV001312812]	uncertain significance	2	227695895	227695895	Human	1	name
126753714	CV1024199	single nucleotide variant	NM_025243.4(SLC19A3):c.1183G>T (p.Ala395Ser)	Biotin-responsive basal ganglia disease [RCV001338650]	uncertain significance	2	227688297	227688297	Human	1	name
126769566	CV1024200	single nucleotide variant	NM_025243.4(SLC19A3):c.1099G>A (p.Ala367Thr)	Biotin-responsive basal ganglia disease [RCV001343988]\|Inborn genetic diseases [RCV005278836]	likely benign\|uncertain significance	2	227695962	227695962	Human	2	name
126911350	CV1041128	single nucleotide variant	NM_025243.4(SLC19A3):c.1409T>G (p.Val470Gly)	Biotin-responsive basal ganglia disease [RCV001369171]\|not provided [RCV004774432]	uncertain significance	2	227687479	227687479	Human	1	name
126920539	CV1041129	single nucleotide variant	NM_025243.4(SLC19A3):c.1355T>C (p.Ile452Thr)	Biotin-responsive basal ganglia disease [RCV001362939]\|Inborn genetic diseases [RCV004671370]	uncertain significance	2	227687533	227687533	Human	2	name
151840931	CV1342236	single nucleotide variant	NM_025243.4(SLC19A3):c.1116C>G (p.Cys372Trp)	Biotin-responsive basal ganglia disease [RCV001956739]	uncertain significance	2	227695945	227695945	Human	1	name
151797670	CV1352639	single nucleotide variant	NM_025243.4(SLC19A3):c.1378A>C (p.Ile460Leu)	Biotin-responsive basal ganglia disease [RCV001877093]	uncertain significance	2	227687510	227687510	Human	1	name
151731065	CV1355423	single nucleotide variant	NM_025243.4(SLC19A3):c.1070C>G (p.Ala357Gly)	Biotin-responsive basal ganglia disease [RCV001984210]	uncertain significance	2	227695991	227695991	Human	1	name
151723862	CV1356878	single nucleotide variant	NM_025243.4(SLC19A3):c.1073G>A (p.Gly358Asp)	Biotin-responsive basal ganglia disease [RCV001966338]	uncertain significance	2	227695988	227695988	Human	1	name
8660697	CV135767	single nucleotide variant	NM_025243.4(SLC19A3):c.1049T>C (p.Val350Ala)	Biotin-responsive basal ganglia disease [RCV000534567]\|not provided [RCV000676549]\|not specified [RCV000118358]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	227696012	227696012	Human	1	name
151864486	CV1374649	single nucleotide variant	NM_025243.4(SLC19A3):c.1150A>T (p.Met384Leu)	Biotin-responsive basal ganglia disease [RCV001884366]	uncertain significance	2	227695911	227695911	Human	1	name
151844003	CV1375850	single nucleotide variant	NM_025243.4(SLC19A3):c.1406A>T (p.Asp469Val)	Biotin-responsive basal ganglia disease [RCV001995100]	uncertain significance	2	227687482	227687482	Human	1	name
151789995	CV1394324	single nucleotide variant	NM_025243.4(SLC19A3):c.1306A>C (p.Ser436Arg)	Biotin-responsive basal ganglia disease [RCV002047008]	uncertain significance	2	227688174	227688174	Human	1	name
151869764	CV1436469	single nucleotide variant	NM_025243.4(SLC19A3):c.1263G>A (p.Met421Ile)	Biotin-responsive basal ganglia disease [RCV002018783]	uncertain significance	2	227688217	227688217	Human	1	name
151776613	CV1450609	single nucleotide variant	NM_025243.4(SLC19A3):c.1280A>G (p.Asp427Gly)	Biotin-responsive basal ganglia disease [RCV001915492]	uncertain significance	2	227688200	227688200	Human	1	name
151762086	CV1455984	single nucleotide variant	NM_025243.4(SLC19A3):c.1216G>A (p.Val406Ile)	Biotin-responsive basal ganglia disease [RCV002044399]	uncertain significance	2	227688264	227688264	Human	1	name
151773226	CV1461568	single nucleotide variant	NM_025243.4(SLC19A3):c.1019A>G (p.Asn340Ser)	Biotin-responsive basal ganglia disease [RCV001950367]\|Inborn genetic diseases [RCV003167433]	uncertain significance	2	227696042	227696042	Human	2	name
151841562	CV1463131	single nucleotide variant	NM_025243.4(SLC19A3):c.1476G>C (p.Met492Ile)	Biotin-responsive basal ganglia disease [RCV002031881]	uncertain significance	2	227687412	227687412	Human	1	name
151783873	CV1474353	single nucleotide variant	NM_025243.4(SLC19A3):c.1183G>A (p.Ala395Thr)	Biotin-responsive basal ganglia disease [RCV001875621]	uncertain significance	2	227688297	227688297	Human	1	name
151832892	CV1475323	single nucleotide variant	NM_025243.4(SLC19A3):c.1382C>A (p.Thr461Asn)	Biotin-responsive basal ganglia disease [RCV001993885]	uncertain significance	2	227687506	227687506	Human	1	name
151885607	CV1507149	single nucleotide variant	NM_025243.4(SLC19A3):c.1457A>G (p.Glu486Gly)	Biotin-responsive basal ganglia disease [RCV001962582]	uncertain significance	2	227687431	227687431	Human	1	name
156004891	CV1869763	single nucleotide variant	NM_025243.4(SLC19A3):c.1261A>T (p.Met421Leu)	Biotin-responsive basal ganglia disease [RCV003076771]	uncertain significance	2	227688219	227688219	Human	1	name
156281553	CV1931623	single nucleotide variant	NM_025243.4(SLC19A3):c.1232C>T (p.Thr411Ile)	Biotin-responsive basal ganglia disease [RCV002628451]	uncertain significance	2	227688248	227688248	Human	1	name
156227488	CV1958910	single nucleotide variant	NM_025243.4(SLC19A3):c.1258A>G (p.Ile420Val)	Biotin-responsive basal ganglia disease [RCV002596682]	uncertain significance	2	227688222	227688222	Human	1	name
8596480	CV19602	single nucleotide variant	NM_025243.4(SLC19A3):c.1264A>G (p.Thr422Ala)	Biotin-responsive basal ganglia disease [RCV000004825]\|Inborn genetic diseases [RCV002512775]\|Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type) [RCV004527286]\|not provided [RCV000489300]	pathogenic	2	227688216	227688216	Human	2	name
156397907	CV2009227	single nucleotide variant	NM_025243.4(SLC19A3):c.1038G>T (p.Glu346Asp)	Biotin-responsive basal ganglia disease [RCV002725747]	uncertain significance	2	227696023	227696023	Human	1	name
156047849	CV2059925	single nucleotide variant	NM_025243.4(SLC19A3):c.1103A>G (p.Asn368Ser)	Biotin-responsive basal ganglia disease [RCV002796666]	uncertain significance	2	227695958	227695958	Human	1	name
10411001	CV210785	single nucleotide variant	NM_025243.3(SLC19A3):c.1478C>G (p.Ser493Ter)	not provided [RCV000199348]	likely pathogenic	2	227687410	227687410	Human		name
10409909	CV210787	single nucleotide variant	NM_025243.4(SLC19A3):c.1332C>G (p.Ser444Arg)	not provided [RCV000197098]	pathogenic	2	227687556	227687556	Human		name
10410765	CV210788	single nucleotide variant	NM_025243.4(SLC19A3):c.1154T>G (p.Leu385Arg)	Biotin-responsive basal ganglia disease [RCV000294366]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	2	227695907	227695907	Human	1	name
10409490	CV210789	single nucleotide variant	NM_025243.4(SLC19A3):c.1112C>T (p.Ala371Val)	Biotin-responsive basal ganglia disease [RCV000624942]\|not provided [RCV000676548]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	227695949	227695949	Human	1	name
156155307	CV2150762	microsatellite	NM_025243.4(SLC19A3):c.80TGA[1] (p.Met28del)	Biotin-responsive basal ganglia disease [RCV003022996]	uncertain significance	2	227702234	227702236	Human		name
156070334	CV2167340	single nucleotide variant	NM_025243.4(SLC19A3):c.1090C>T (p.His364Tyr)	Biotin-responsive basal ganglia disease [RCV003020021]	uncertain significance	2	227695971	227695971	Human	1	name
155924409	CV2248771	single nucleotide variant	NM_025243.4(SLC19A3):c.1480A>G (p.Thr494Ala)	Inborn genetic diseases [RCV002773442]	uncertain significance	2	227687408	227687408	Human	1	name
156434227	CV2401880	single nucleotide variant	NM_025243.4(SLC19A3):c.1253A>C (p.Gln418Pro)	Biotin-responsive basal ganglia disease [RCV003110163]	uncertain significance	2	227688227	227688227	Human	1	name
329953805	CV2669007	duplication	NM_025243.4(SLC19A3):c.1385dup (p.Tyr462Ter)	Biotin-responsive basal ganglia disease [RCV003231062]	likely pathogenic	2	227687502	227687503	Human	1	name
401721023	CV2702233	single nucleotide variant	NM_025243.4(SLC19A3):c.1376A>G (p.Tyr459Cys)	Inborn genetic diseases [RCV003267439]	uncertain significance	2	227687512	227687512	Human	1	name
11580357	CV273120	single nucleotide variant	NM_025243.4(SLC19A3):c.1145G>A (p.Ser382Asn)	Biotin-responsive basal ganglia disease [RCV001085971]\|not provided [RCV000333120]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	227695916	227695916	Human	1	name
11595739	CV285867	single nucleotide variant	NM_025243.4(SLC19A3):c.1442T>C (p.Val481Ala)	Biotin-responsive basal ganglia disease [RCV000373769]	uncertain significance	2	227687446	227687446	Human	1	name
11597101	CV288573	single nucleotide variant	NM_025243.4(SLC19A3):c.1132A>G (p.Ile378Val)	Biotin-responsive basal ganglia disease [RCV000547029]\|SLC19A3-related disorder [RCV003940362]\|not provided [RCV000439271]	benign\|likely benign	2	227695929	227695929	Human	1	name , trait , alternate_id
405281767	CV3224340	single nucleotide variant	NM_025243.4(SLC19A3):c.1264A>C (p.Thr422Pro)	Biotin-responsive basal ganglia disease [RCV003988722]	likely pathogenic	2	227688216	227688216	Human	1	name
408390059	CV3519179	single nucleotide variant	NM_025243.4(SLC19A3):c.1441G>T (p.Val481Leu)	not provided [RCV004762488]	uncertain significance	2	227687447	227687447	Human		name
408387742	CV3527176	single nucleotide variant	NM_025243.4(SLC19A3):c.1052T>A (p.Val351Asp)	not provided [RCV004773478]	uncertain significance	2	227696009	227696009	Human		name
12742842	CV359347	single nucleotide variant	NM_025243.4(SLC19A3):c.1252C>G (p.Gln418Glu)	Biotin-responsive basal ganglia disease [RCV001086955]\|SLC19A3-related disorder [RCV003409576]\|not provided [RCV000414665]	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|no classifications from unflagged records	2	227688228	227688228	Human	1	name , trait , alternate_id
12836756	CV366243	single nucleotide variant	NM_025243.4(SLC19A3):c.1148A>G (p.Tyr383Cys)	not provided [RCV000423967]	uncertain significance	2	227695913	227695913	Human		name
597860775	CV3813441	single nucleotide variant	NM_025243.4(SLC19A3):c.1151T>G (p.Met384Arg)	Biotin-responsive basal ganglia disease [RCV005146703]\|not provided [RCV005414741]	uncertain significance	2	227695910	227695910	Human	1	name
598200094	CV3921768	single nucleotide variant	NM_025243.4(SLC19A3):c.1178A>G (p.Gln393Arg)	Inborn genetic diseases [RCV005268490]	uncertain significance	2	227688302	227688302	Human	1	name
598177722	CV4008335	single nucleotide variant	NM_025243.4(SLC19A3):c.1115G>A (p.Cys372Tyr)	Biotin-responsive basal ganglia disease [RCV005393854]	uncertain significance	2	227695946	227695946	Human	1	name
12894402	CV405651	single nucleotide variant	NM_025243.4(SLC19A3):c.1253A>G (p.Gln418Arg)	Biotin-responsive basal ganglia disease [RCV001856855]\|not provided [RCV000482702]	likely pathogenic\|uncertain significance	2	227688227	227688227	Human	1	name
12906860	CV414874	single nucleotide variant	NM_025243.4(SLC19A3):c.1228A>C (p.Asn410His)	not provided [RCV000489741]	likely pathogenic	2	227688252	227688252	Human		name
12913775	CV421366	single nucleotide variant	NM_025243.4(SLC19A3):c.1118A>G (p.Tyr373Cys)	Biotin-responsive basal ganglia disease [RCV001301246]\|not provided [RCV000494248]	likely pathogenic\|uncertain significance	2	227695943	227695943	Human	1	name
13490809	CV450542	single nucleotide variant	NM_025243.4(SLC19A3):c.1370G>A (p.Ser457Asn)	Biotin-responsive basal ganglia disease [RCV000533777]\|Inborn genetic diseases [RCV002530059]\|not provided [RCV003105950]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	227687518	227687518	Human	2	name
13523533	CV492804	single nucleotide variant	NM_025243.4(SLC19A3):c.1056C>G (p.Phe352Leu)	Biotin-responsive basal ganglia disease [RCV001087078]\|not provided [RCV000593122]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	227696005	227696005	Human	1	name
13609534	CV517852	single nucleotide variant	NM_025243.4(SLC19A3):c.1364T>G (p.Met455Arg)	Biotin-responsive basal ganglia disease [RCV000640710]\|Inborn genetic diseases [RCV004957933]	uncertain significance	2	227687524	227687524	Human	2	name
13812384	CV557896	single nucleotide variant	NM_025243.4(SLC19A3):c.1024G>A (p.Asp342Asn)	Biotin-responsive basal ganglia disease [RCV000689414]\|not provided [RCV003226967]	uncertain significance	2	227696037	227696037	Human	1	name
13820706	CV557951	single nucleotide variant	NM_025243.4(SLC19A3):c.1015G>A (p.Val339Ile)	Biotin-responsive basal ganglia disease [RCV000695001]	uncertain significance	2	227696046	227696046	Human	1	name
13808779	CV559133	single nucleotide variant	NM_025243.4(SLC19A3):c.1193T>G (p.Leu398Arg)	Biotin-responsive basal ganglia disease [RCV000701827]	uncertain significance	2	227688287	227688287	Human	1	name
13811932	CV561003	single nucleotide variant	NM_025243.4(SLC19A3):c.1256C>A (p.Thr419Asn)	Biotin-responsive basal ganglia disease [RCV000703368]	uncertain significance	2	227688224	227688224	Human	1	name
13813138	CV561005	single nucleotide variant	NM_025243.4(SLC19A3):c.1089G>A (p.Met363Ile)	Biotin-responsive basal ganglia disease [RCV000704158]	uncertain significance	2	227695972	227695972	Human	1	name
14704104	CV629507	single nucleotide variant	NM_025243.4(SLC19A3):c.1451C>T (p.Pro484Leu)	Biotin-responsive basal ganglia disease [RCV000807647]	uncertain significance	2	227687437	227687437	Human	1	name
14733862	CV629508	single nucleotide variant	NM_025243.4(SLC19A3):c.1448A>G (p.His483Arg)	Biotin-responsive basal ganglia disease [RCV000802469]	uncertain significance	2	227687440	227687440	Human	1	name
14715860	CV629509	single nucleotide variant	NM_025243.4(SLC19A3):c.1339G>A (p.Ala447Thr)	Biotin-responsive basal ganglia disease [RCV000811380]\|not provided [RCV001577595]	likely benign\|uncertain significance	2	227687549	227687549	Human	1	name
14743301	CV629510	single nucleotide variant	NM_025243.4(SLC19A3):c.1154T>C (p.Leu385Pro)	Biotin-responsive basal ganglia disease [RCV000823366]	uncertain significance	2	227695907	227695907	Human	1	name
14713890	CV629511	single nucleotide variant	NM_025243.4(SLC19A3):c.1051G>T (p.Val351Phe)	Biotin-responsive basal ganglia disease [RCV000810710]	uncertain significance	2	227696010	227696010	Human	1	name
15175220	CV697372	single nucleotide variant	NM_025243.4(SLC19A3):c.1204C>T (p.Arg402Cys)	Biotin-responsive basal ganglia disease [RCV000950526]\|not provided [RCV001558668]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	227688276	227688276	Human	1	name
15157059	CV747390	single nucleotide variant	NM_025243.4(SLC19A3):c.1343T>C (p.Val448Ala)	Biotin-responsive basal ganglia disease [RCV000924786]\|not provided [RCV001664551]	likely benign\|uncertain significance	2	227687545	227687545	Human	1	name
21068053	CV795184	single nucleotide variant	NM_025243.4(SLC19A3):c.1378A>G (p.Ile460Val)	not provided [RCV000997691]	uncertain significance	2	227687510	227687510	Human		name
26918733	CV825812	single nucleotide variant	NM_025243.4(SLC19A3):c.1463G>C (p.Ser488Thr)	Biotin-responsive basal ganglia disease [RCV001044146]\|not provided [RCV003117720]	uncertain significance	2	227687425	227687425	Human	1	name
26892701	CV825813	single nucleotide variant	NM_025243.4(SLC19A3):c.1441G>A (p.Val481Met)	Biotin-responsive basal ganglia disease [RCV001062076]\|not provided [RCV004761915]	uncertain significance	2	227687447	227687447	Human	1	name
26921727	CV825814	single nucleotide variant	NM_025243.4(SLC19A3):c.1439A>G (p.Asp480Gly)	Biotin-responsive basal ganglia disease [RCV001050594]	uncertain significance	2	227687449	227687449	Human	1	name
26894361	CV825815	single nucleotide variant	NM_025243.4(SLC19A3):c.1365G>A (p.Met455Ile)	Biotin-responsive basal ganglia disease [RCV001063400]	uncertain significance	2	227687523	227687523	Human	1	name
26920487	CV825816	single nucleotide variant	NM_025243.4(SLC19A3):c.1349C>G (p.Ala450Gly)	Biotin-responsive basal ganglia disease [RCV001047772]	uncertain significance	2	227687539	227687539	Human	1	name
26918653	CV825817	single nucleotide variant	NM_025243.4(SLC19A3):c.1309A>T (p.Ile437Phe)	Biotin-responsive basal ganglia disease [RCV001044063]	uncertain significance	2	227688171	227688171	Human	1	name
26897551	CV825818	single nucleotide variant	NM_025243.4(SLC19A3):c.1205G>A (p.Arg402His)	Biotin-responsive basal ganglia disease [RCV001065872]	uncertain significance	2	227688275	227688275	Human	1	name
26901234	CV825819	single nucleotide variant	NM_025243.4(SLC19A3):c.1054T>C (p.Phe352Leu)	Biotin-responsive basal ganglia disease [RCV001068401]	uncertain significance	2	227696007	227696007	Human	1	name
28898659	CV884081	single nucleotide variant	NM_025243.4(SLC19A3):c.1412A>G (p.Gln471Arg)	Biotin-responsive basal ganglia disease [RCV001142076]	uncertain significance	2	227687476	227687476	Human	1	name
38477318	CV922598	single nucleotide variant	NM_025243.4(SLC19A3):c.1070C>T (p.Ala357Val)	Biotin-responsive basal ganglia disease [RCV001216086]	uncertain significance	2	227695991	227695991	Human	1	name
38488209	CV931167	single nucleotide variant	NM_025243.4(SLC19A3):c.1328G>T (p.Gly443Val)	Biotin-responsive basal ganglia disease [RCV001209643]	uncertain significance	2	227687560	227687560	Human	1	name
38489127	CV931168	single nucleotide variant	NM_025243.4(SLC19A3):c.1217T>C (p.Val406Ala)	Biotin-responsive basal ganglia disease [RCV001210069]	uncertain significance	2	227688263	227688263	Human	1	name
38458081	CV942633	single nucleotide variant	NM_025243.4(SLC19A3):c.1225A>C (p.Ile409Leu)	Biotin-responsive basal ganglia disease [RCV001228809]	uncertain significance	2	227688255	227688255	Human	1	name
126755184	CV988418	single nucleotide variant	NM_025243.4(SLC19A3):c.1245G>T (p.Leu415Phe)	Biotin-responsive basal ganglia disease [RCV001298293]	uncertain significance	2	227688235	227688235	Human	1	name
126747257	CV988419	single nucleotide variant	NM_025243.4(SLC19A3):c.1070C>A (p.Ala357Asp)	Biotin-responsive basal ganglia disease [RCV001306217]	uncertain significance	2	227695991	227695991	Human	1	name
127246234	CV1059244	microsatellite	NM_025243.4(SLC19A3):c.776_777del (p.Val259fs)	Biotin-responsive basal ganglia disease [RCV001384512]	pathogenic	2	227698938	227698939	Human		name
156376665	CV1956647	deletion	NM_025243.4(SLC19A3):c.623_626del (p.Lys208fs)	Biotin-responsive basal ganglia disease [RCV002582860]	pathogenic\|likely pathogenic	2	227699089	227699092	Human	1	name
402483395	CV2861377	duplication	NM_025243.4(SLC19A3):c.885_888dup (p.Asn297fs)	Biotin-responsive basal ganglia disease [RCV003502890]	pathogenic	2	227698826	227698827	Human	1	name
25318818	CV805292	deletion	NM_025243.4(SLC19A3):c.895_925del (p.Val299fs)	not provided [RCV001008836]	pathogenic	2	227698790	227698820	Human		name
38465485	CV961836	deletion	NM_025243.4(SLC19A3):c.482_483del (p.Leu161fs)	Biotin-responsive basal ganglia disease [RCV001250166]\|not provided [RCV001587288]	pathogenic\|likely pathogenic	2	227699232	227699233	Human	1	name
12895581	CV405652	deletion	NM_025243.4(SLC19A3):c.503_505del (p.Ser168del)	Biotin-responsive basal ganglia disease [RCV001346469]\|not provided [RCV000486999]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	2	227699210	227699212	Human	1	name
13612860	CV432352	microsatellite	NM_025243.4(SLC19A3):c.1274TAG[1] (p.Val426del)	Biotin-responsive basal ganglia disease [RCV000656113]	pathogenic	2	227688201	227688203	Human		name
151872704	CV1513499	microsatellite	NM_025243.4(SLC19A3):c.1443_1444del (p.His483fs)	Biotin-responsive basal ganglia disease [RCV001940022]	uncertain significance	2	227687444	227687445	Human		name
26913633	CV825811	duplication	NM_025243.4(SLC19A3):c.1475_1482dup (p.Lys495fs)	Biotin-responsive basal ganglia disease [RCV001036230]	uncertain significance	2	227687405	227687406	Human	1	name
151879499	CV1506290	inversion	NM_025243.4(SLC19A3):c.1049_1050inv (p.Val350Ala)	Biotin-responsive basal ganglia disease [RCV001886269]	uncertain significance	2	227696011	227696012	Human		name
10411571	CV210786	duplication	NM_025243.4(SLC19A3):c.1379_1381dup (p.Ile460dup)	Biotin-responsive basal ganglia disease [RCV000550793]\|Inborn genetic diseases [RCV002515433]\|SLC19A3-related disorder [RCV003967524]	likely benign\|uncertain significance	2	227687506	227687507	Human	2	name , trait , alternate_id
127264161	CV1059243	deletion	NM_025243.4(SLC19A3):c.1164del (p.Thr388_Ile389insTer)	Biotin-responsive basal ganglia disease [RCV001388133]	pathogenic	2	227695897	227695897	Human	1	name
156388610	CV1875828	indel	NM_025243.4(SLC19A3):c.1370_1371delinsAA (p.Ser457Lys)	Biotin-responsive basal ganglia disease [RCV003051080]	uncertain significance	2	227687517	227687518	Human		name
156388302	CV1888290	indel	NM_025243.4(SLC19A3):c.1444_1445delinsCT (p.Ser482Leu)	Biotin-responsive basal ganglia disease [RCV003067751]	uncertain significance	2	227687443	227687444	Human		name
597840818	CV3825423	deletion	NM_025243.4(SLC19A3):c.364_378del (p.Ala122_Tyr126del)	Biotin-responsive basal ganglia disease [RCV005172106]	uncertain significance	2	227699337	227699351	Human	1	name
597871847	CV3768410	insertion	NM_025243.4(SLC19A3):c.1175_1176insAAACATAAATCAGATTGCATAAA (p.Phe392delinsLeuAsnIleAsnGlnIleAlaTer)	Biotin-responsive basal ganglia disease [RCV005122789]	pathogenic	2	227688304	227688305	Human	1	name

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message