Slc20a2 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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390 records found for search term Slc20a2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11605802	CV305383	single nucleotide variant	NM_006749.5(SLC20A2):c.-288G>C	Idiopathic basal ganglia calcification 1 [RCV005420197]	uncertain significance	8	42541844	42541844	Human	1	name
11608613	CV305384	single nucleotide variant	NM_006749.5(SLC20A2):c.-305G>A	Idiopathic basal ganglia calcification 1 [RCV005420198]\|not provided [RCV004712586]	benign	8	42541861	42541861	Human	1	name
11602308	CV305386	single nucleotide variant	NM_006749.4(SLC20A2):c.-534A>T	Idiopathic basal ganglia calcification 1 [RCV005420202]\|not provided [RCV004712587]	benign\|likely benign	8	42542090	42542090	Human	1	name
11606079	CV309191	single nucleotide variant	NM_006749.4(SLC20A2):c.-436C>T	Idiopathic basal ganglia calcification 1 [RCV005420200]	uncertain significance	8	42541992	42541992	Human	1	name
11606567	CV309192	single nucleotide variant	NM_006749.4(SLC20A2):c.-568C>A	Idiopathic basal ganglia calcification 1 [RCV005420203]	uncertain significance	8	42542124	42542124	Human	1	name
11610427	CV314461	single nucleotide variant	NM_006749.4(SLC20A2):c.-457G>T	Idiopathic basal ganglia calcification 1 [RCV005420201]	uncertain significance	8	42542013	42542013	Human	1	name
11611031	CV314475	single nucleotide variant	NM_006749.4(SLC20A2):c.-592C>T	Idiopathic basal ganglia calcification 1 [RCV005420204]	benign\|likely benign	8	42542148	42542148	Human	1	name
11599379	CV314509	single nucleotide variant	NM_006749.5(SLC20A2):c.-389G>A	Idiopathic basal ganglia calcification 1 [RCV005420199]	uncertain significance	8	42541945	42541945	Human	1	name
28867676	CV899625	single nucleotide variant	NM_006749.5(SLC20A2):c.-279C>T	Idiopathic basal ganglia calcification 1 [RCV005420359]	uncertain significance	8	42541835	42541835	Human	1	name
28867678	CV899626	single nucleotide variant	NM_006749.5(SLC20A2):c.-350T>G	Idiopathic basal ganglia calcification 1 [RCV005420360]	uncertain significance	8	42541906	42541906	Human	1	name
28867680	CV899627	single nucleotide variant	NM_006749.5(SLC20A2):c.-366T>G	Idiopathic basal ganglia calcification 1 [RCV005420361]	uncertain significance	8	42541922	42541922	Human	1	name
28871610	CV899628	single nucleotide variant	NM_006749.5(SLC20A2):c.-372T>C	Idiopathic basal ganglia calcification 1 [RCV005420372]	uncertain significance	8	42541928	42541928	Human	1	name
28871613	CV899629	single nucleotide variant	NM_006749.4(SLC20A2):c.-410C>T	Idiopathic basal ganglia calcification 1 [RCV005420373]	uncertain significance	8	42541966	42541966	Human	1	name
28871614	CV899630	single nucleotide variant	NM_006749.4(SLC20A2):c.-411C>T	Idiopathic basal ganglia calcification 1 [RCV005420374]	uncertain significance	8	42541967	42541967	Human	1	name
28871617	CV899631	single nucleotide variant	NM_006749.4(SLC20A2):c.-415G>A	Idiopathic basal ganglia calcification 1 [RCV005420375]	uncertain significance	8	42541971	42541971	Human	1	name
11603116	CV305380	single nucleotide variant	NM_001257180.2(SLC20A2):c.-89A>G	Idiopathic basal ganglia calcification 1 [RCV005420194]\|not provided [RCV003430951]	benign\|likely benign\|uncertain significance	8	42472479	42472479	Human	1	name
11609747	CV314457	single nucleotide variant	NM_001257180.2(SLC20A2):c.*70C>T	Idiopathic basal ganglia calcification 1 [RCV005420166]	likely benign\|uncertain significance	8	42417733	42417733	Human	1	name
11608358	CV314480	duplication	NM_006749.5(SLC20A2):c.-265+8dup	Idiopathic basal ganglia calcification 1 [RCV005420195]	uncertain significance	8	42541812	42541813	Human	1	name
11599534	CV314483	duplication	NM_006749.5(SLC20A2):c.-265+5dup	Idiopathic basal ganglia calcification 1 [RCV005420196]	uncertain significance	8	42541815	42541816	Human	1	name
11603757	CV305332	single nucleotide variant	NM_001257180.2(SLC20A2):c.*926C>T	Idiopathic basal ganglia calcification 1 [RCV005420153]	benign\|likely benign	8	42416877	42416877	Human	1	name
11604492	CV305333	single nucleotide variant	NM_001257180.2(SLC20A2):c.*538C>T	Idiopathic basal ganglia calcification 1 [RCV005420156]	uncertain significance	8	42417265	42417265	Human	1	name
11609101	CV305336	single nucleotide variant	NM_001257180.2(SLC20A2):c.*409A>G	Idiopathic basal ganglia calcification 1 [RCV005420157]	likely benign\|uncertain significance	8	42417394	42417394	Human	1	name
11610980	CV305337	single nucleotide variant	NM_001257180.2(SLC20A2):c.*289A>C	Idiopathic basal ganglia calcification 1 [RCV005420160]	uncertain significance	8	42417514	42417514	Human	1	name
11606359	CV305339	single nucleotide variant	NM_001257180.2(SLC20A2):c.*171G>A	Idiopathic basal ganglia calcification 1 [RCV005420162]	uncertain significance	8	42417632	42417632	Human	1	name
11610013	CV309168	single nucleotide variant	NM_001257180.2(SLC20A2):c.*124G>T	Idiopathic basal ganglia calcification 1 [RCV005420163]	uncertain significance	8	42417679	42417679	Human	1	name
11600654	CV314428	single nucleotide variant	NM_001257180.2(SLC20A2):c.*263A>C	Idiopathic basal ganglia calcification 1 [RCV005420161]	benign\|likely benign	8	42417540	42417540	Human	1	name
11601318	CV314429	single nucleotide variant	NM_001257180.2(SLC20A2):c.*113A>T	Idiopathic basal ganglia calcification 1 [RCV005420164]\|not provided [RCV001562742]	benign\|likely benign	8	42417690	42417690	Human	1	name
11606861	CV314430	single nucleotide variant	NM_001257180.2(SLC20A2):c.*112G>T	Idiopathic basal ganglia calcification 1 [RCV005420165]\|not provided [RCV001597124]	benign\|likely benign	8	42417691	42417691	Human	1	name
11608610	CV314443	single nucleotide variant	NM_001257180.2(SLC20A2):c.*660T>C	Idiopathic basal ganglia calcification 1 [RCV005420154]	uncertain significance	8	42417143	42417143	Human	1	name
11600329	CV314448	single nucleotide variant	NM_001257180.2(SLC20A2):c.*570G>T	Idiopathic basal ganglia calcification 1 [RCV005420155]\|not provided [RCV004712583]	benign	8	42417233	42417233	Human	1	name
11599920	CV314455	single nucleotide variant	NM_001257180.2(SLC20A2):c.*380C>T	Idiopathic basal ganglia calcification 1 [RCV005420158]\|not provided [RCV004712584]	benign\|likely benign	8	42417423	42417423	Human	1	name
11606677	CV314456	single nucleotide variant	NM_001257180.2(SLC20A2):c.*361A>G	Idiopathic basal ganglia calcification 1 [RCV005420159]\|not provided [RCV004712585]	benign	8	42417442	42417442	Human	1	name
28870524	CV899608	single nucleotide variant	NM_001257180.2(SLC20A2):c.*925G>T	Idiopathic basal ganglia calcification 1 [RCV005420363]	uncertain significance	8	42416878	42416878	Human	1	name
28870527	CV899609	single nucleotide variant	NM_001257180.2(SLC20A2):c.*798G>A	Idiopathic basal ganglia calcification 1 [RCV005420364]	uncertain significance	8	42417005	42417005	Human	1	name
28871196	CV899610	single nucleotide variant	NM_001257180.2(SLC20A2):c.*539G>A	Idiopathic basal ganglia calcification 1 [RCV005420368]	uncertain significance	8	42417264	42417264	Human	1	name
28871197	CV899611	single nucleotide variant	NM_001257180.2(SLC20A2):c.*482T>C	Idiopathic basal ganglia calcification 1 [RCV005420369]	uncertain significance	8	42417321	42417321	Human	1	name
28906372	CV899612	single nucleotide variant	NM_001257180.2(SLC20A2):c.*120C>G	Idiopathic basal ganglia calcification 1 [RCV005420349]	benign	8	42417683	42417683	Human	1	name
28867673	CV899624	single nucleotide variant	NM_001257180.2(SLC20A2):c.-181T>A	Idiopathic basal ganglia calcification 1 [RCV005420357]	uncertain significance	8	42472571	42472571	Human	1	name
150544937	CV1315339	single nucleotide variant	NM_001257180.2(SLC20A2):c.290-1G>A	Idiopathic basal ganglia calcification 1 [RCV005420411]	likely pathogenic	8	42465918	42465918	Human	1	name
151350731	CV1325759	single nucleotide variant	NM_001257180.2(SLC20A2):c.935-3C>G	Inborn genetic diseases [RCV004040941]\|not provided [RCV002541503]\|not specified [RCV001815105]	likely pathogenic\|uncertain significance	8	42437580	42437580	Human	1	name
405241990	CV2905071	single nucleotide variant	NM_001257180.2(SLC20A2):c.935-1G>A	not provided [RCV003557395]	pathogenic	8	42437578	42437578	Human		name
405229253	CV3075515	single nucleotide variant	NM_001257180.2(SLC20A2):c.290-8A>G	Idiopathic basal ganglia calcification 1 [RCV005420450]\|not provided [RCV003734608]	pathogenic	8	42465925	42465925	Human	1	name
11608180	CV309189	single nucleotide variant	NM_001257180.2(SLC20A2):c.290-5T>C	Idiopathic basal ganglia calcification 1 [RCV005420190]\|not provided [RCV000886678]	benign\|likely benign	8	42465922	42465922	Human	1	name
11607333	CV314427	single nucleotide variant	NM_001257180.2(SLC20A2):c.*1069G>C	Idiopathic basal ganglia calcification 1 [RCV005420151]	uncertain significance	8	42416734	42416734	Human	1	name
11612346	CV314434	single nucleotide variant	NM_001257180.2(SLC20A2):c.*1057C>G	Idiopathic basal ganglia calcification 1 [RCV005420152]\|not provided [RCV004712582]	benign	8	42416746	42416746	Human	1	name
402508565	CV3181752	single nucleotide variant	NM_001257180.2(SLC20A2):c.731-3T>C	not provided [RCV003878586]	uncertain significance	8	42439656	42439656	Human		name
405270743	CV3219728	single nucleotide variant	NM_001257180.2(SLC20A2):c.517-3C>T	SLC20A2-related disorder [RCV003971477]	likely benign	8	42459995	42459995	Human		name , trait , alternate_id
405711156	CV3225801	single nucleotide variant	NM_001257180.2(SLC20A2):c.613+1G>A	Idiopathic basal ganglia calcification 1 [RCV005420451]	likely pathogenic	8	42459895	42459895	Human	1	name
405655143	CV3228384	single nucleotide variant	NM_001257180.2(SLC20A2):c.614-4C>T	not specified [RCV003995119]	uncertain significance	8	42444766	42444766	Human		name
405854425	CV3393914	single nucleotide variant	NM_001257180.2(SLC20A2):c.431-2A>T	not provided [RCV004547140]	pathogenic	8	42463092	42463092	Human		name
408383558	CV3504049	single nucleotide variant	NM_001257180.2(SLC20A2):c.289+5G>C	SLC20A2-related disorder [RCV004730670]	uncertain significance	8	42472097	42472097	Human		name , trait , alternate_id
597639499	CV3596425	single nucleotide variant	NM_001257180.2(SLC20A2):c.289+5G>A	Inborn genetic diseases [RCV004971233]	uncertain significance	8	42472097	42472097	Human	1	name
597919324	CV3737949	single nucleotide variant	NM_001257180.2(SLC20A2):c.614-7T>C	not provided [RCV005074548]	likely benign	8	42444769	42444769	Human		name
14698401	CV624067	single nucleotide variant	NM_001257180.2(SLC20A2):c.935-2A>G	Idiopathic basal ganglia calcification 1 [RCV005420247]\|not provided [RCV003565443]	pathogenic\|likely pathogenic	8	42437579	42437579	Human	1	name
15165718	CV744434	single nucleotide variant	NM_001257180.2(SLC20A2):c.431-6A>T	not provided [RCV000904284]	likely benign	8	42463096	42463096	Human		name
21069764	CV796177	single nucleotide variant	NM_001257180.2(SLC20A2):c.430+3A>C	not provided [RCV000999033]	uncertain significance	8	42465774	42465774	Human		name
28870520	CV899607	single nucleotide variant	NM_001257180.2(SLC20A2):c.*1320C>T	Idiopathic basal ganglia calcification 1 [RCV005420362]	uncertain significance	8	42416483	42416483	Human	1	name
150435573	CV1221676	deletion	NM_001257180.2(SLC20A2):c.935-36del	not provided [RCV001609364]	benign	8	42437613	42437613	Human		name
150506640	CV1242264	duplication	NM_001257180.2(SLC20A2):c.935-49dup	not provided [RCV001658618]	benign	8	42437612	42437613	Human		name
150441550	CV1246752	single nucleotide variant	NM_001257180.2(SLC20A2):c.430+21C>A	not provided [RCV001666406]	benign	8	42465756	42465756	Human		name
150450931	CV1261013	single nucleotide variant	NM_001257180.2(SLC20A2):c.935-45A>G	not provided [RCV001680682]	benign	8	42437622	42437622	Human		name
150477950	CV1281787	single nucleotide variant	NM_001257180.2(SLC20A2):c.517-25A>G	not provided [RCV001714211]	benign	8	42460017	42460017	Human		name
150529426	CV1288975	single nucleotide variant	NM_001257180.2(SLC20A2):c.1523+1G>T	not provided [RCV001727444]	pathogenic	8	42436988	42436988	Human		name
151663096	CV1330931	single nucleotide variant	NM_001257180.2(SLC20A2):c.1794+1G>C	Idiopathic basal ganglia calcification 1 [RCV005420417]\|SLC20A2-related disorder [RCV003416487]\|not provided [RCV003154201]	pathogenic\|likely pathogenic	8	42428757	42428757	Human	1	name , trait , alternate_id
152081893	CV1526100	single nucleotide variant	NM_001257180.2(SLC20A2):c.517-10C>T	not provided [RCV002170645]	likely benign	8	42460002	42460002	Human		name
152171457	CV1544177	single nucleotide variant	NM_001257180.2(SLC20A2):c.935-19C>G	not provided [RCV002162119]	likely benign	8	42437596	42437596	Human		name
152074506	CV1557619	duplication	NM_001257180.2(SLC20A2):c.431-11dup	not provided [RCV002130035]	benign	8	42463100	42463101	Human		name
152068272	CV1571148	single nucleotide variant	NM_001257180.2(SLC20A2):c.1795-9C>T	not provided [RCV002129264]	likely benign	8	42417976	42417976	Human		name
152118545	CV1600544	single nucleotide variant	NM_001257180.2(SLC20A2):c.935-20C>T	not provided [RCV002153958]	likely benign	8	42437597	42437597	Human		name
152100351	CV1610820	single nucleotide variant	NM_001257180.2(SLC20A2):c.614-17C>G	not provided [RCV002133197]	likely benign	8	42444779	42444779	Human		name
152050309	CV1626267	deletion	NM_001257180.2(SLC20A2):c.431-11del	not provided [RCV002189329]	benign	8	42463101	42463101	Human		name
152168100	CV1645032	single nucleotide variant	NM_001257180.2(SLC20A2):c.613+19C>G	not provided [RCV002142330]	likely benign	8	42459877	42459877	Human		name
156009096	CV2038871	single nucleotide variant	NM_001257180.2(SLC20A2):c.1710-7C>T	not provided [RCV002795000]	likely benign	8	42428849	42428849	Human		name
156235513	CV2072442	single nucleotide variant	NM_001257180.2(SLC20A2):c.1709+5G>T	not provided [RCV002830213]	uncertain significance	8	42430059	42430059	Human		name
156124777	CV2112278	single nucleotide variant	NM_001257180.2(SLC20A2):c.934+10G>A	not provided [RCV002927963]	benign	8	42439440	42439440	Human		name
401872621	CV2749669	single nucleotide variant	NM_001257180.2(SLC20A2):c.1794+1G>A	not provided [RCV003332797]	pathogenic	8	42428757	42428757	Human		name
401909211	CV2821070	deletion	NM_001257180.2(SLC20A2):c.1794+1del	not provided [RCV003423920]	likely pathogenic	8	42428757	42428757	Human		name
11612302	CV305376	single nucleotide variant	NM_001257180.2(SLC20A2):c.290-13C>A	Idiopathic basal ganglia calcification 1 [RCV005420191]\|not provided [RCV001522830]	benign\|likely benign	8	42465930	42465930	Human	1	name
596946749	CV3548579	single nucleotide variant	NM_001257180.2(SLC20A2):c.1523+1G>A	not provided [RCV004810406]	pathogenic	8	42436988	42436988	Human		name
13519267	CV486442	single nucleotide variant	NM_001257180.2(SLC20A2):c.1710-1G>A	not provided [RCV000585519]	likely pathogenic	8	42428843	42428843	Human		name
14696197	CV622737	single nucleotide variant	NM_001257180.2(SLC20A2):c.1795-1G>A	Idiopathic basal ganglia calcification 1 [RCV005420245]	likely pathogenic	8	42417968	42417968	Human	1	name
28871435	CV900500	single nucleotide variant	NM_001257180.2(SLC20A2):c.935-12A>C	Idiopathic basal ganglia calcification 1 [RCV005420371]\|not provided [RCV002067996]	benign\|likely benign	8	42437589	42437589	Human	1	name
28867674	CV900501	single nucleotide variant	NM_001257180.2(SLC20A2):c.-264-4A>G	Idiopathic basal ganglia calcification 1 [RCV005420358]	uncertain significance	8	42472658	42472658	Human	1	name
150413295	CV1177038	single nucleotide variant	NM_001257180.2(SLC20A2):c.1524-35A>G	not provided [RCV001547747]	likely benign	8	42430284	42430284	Human		name
150411949	CV1177039	single nucleotide variant	NM_001257180.2(SLC20A2):c.430+132A>G	not provided [RCV001547356]	likely benign	8	42465645	42465645	Human		name
150462457	CV1206592	single nucleotide variant	NM_001257180.2(SLC20A2):c.1523+42C>A	not provided [RCV001586993]	likely benign	8	42436947	42436947	Human		name
150498773	CV1208976	single nucleotide variant	NM_001257180.2(SLC20A2):c.1523+41G>T	not provided [RCV001594193]	likely benign	8	42436948	42436948	Human		name
150440990	CV1220248	single nucleotide variant	NM_001257180.2(SLC20A2):c.517-250G>T	not provided [RCV001610232]	benign	8	42460242	42460242	Human		name
150505983	CV1226233	single nucleotide variant	NM_001257180.2(SLC20A2):c.1795-32C>T	not provided [RCV001635601]	benign	8	42417999	42417999	Human		name
150430767	CV1243471	single nucleotide variant	NM_001257180.2(SLC20A2):c.730+173T>C	not provided [RCV001663090]	benign	8	42444473	42444473	Human		name
150510259	CV1286757	single nucleotide variant	NM_001257180.2(SLC20A2):c.1523+24C>G	not provided [RCV001720992]	benign	8	42436965	42436965	Human		name
152127167	CV1533953	single nucleotide variant	NM_001257180.2(SLC20A2):c.1794+18G>A	not provided [RCV002136465]	likely benign	8	42428740	42428740	Human		name
152064697	CV1539613	single nucleotide variant	NM_001257180.2(SLC20A2):c.1795-15T>C	not provided [RCV002147248]	likely benign	8	42417982	42417982	Human		name
156120455	CV1959305	single nucleotide variant	NM_001257180.2(SLC20A2):c.1710-16C>T	not provided [RCV002571841]	benign	8	42428858	42428858	Human		name
156149767	CV1967399	single nucleotide variant	NM_001257180.2(SLC20A2):c.1794+17C>T	not provided [RCV002594108]	likely benign	8	42428741	42428741	Human		name
597832583	CV3760238	single nucleotide variant	NM_001257180.2(SLC20A2):c.1709+20C>T	not provided [RCV005084981]	benign	8	42430044	42430044	Human		name
150424331	CV1184112	single nucleotide variant	NM_001257180.2(SLC20A2):c.1710-141T>G	not provided [RCV001556521]	likely benign	8	42428983	42428983	Human		name
150423432	CV1184113	single nucleotide variant	NM_001257180.2(SLC20A2):c.1710-148C>T	not provided [RCV001555314]	likely benign	8	42428990	42428990	Human		name
150410275	CV1190780	single nucleotide variant	NM_001257180.2(SLC20A2):c.1794+150T>G	not provided [RCV001565964]	likely benign	8	42428608	42428608	Human		name
150508800	CV1214136	duplication	NM_001257180.2(SLC20A2):c.1524-131dup	not provided [RCV001596657]	likely benign	8	42430371	42430372	Human		name
150477984	CV1252102	single nucleotide variant	NM_001257180.2(SLC20A2):c.1524-176A>G	not provided [RCV001672302]	benign	8	42430425	42430425	Human		name
150464763	CV1252762	single nucleotide variant	NM_001257180.2(SLC20A2):c.1794+159T>C	not provided [RCV001670086]	benign	8	42428599	42428599	Human		name
150441963	CV1287648	single nucleotide variant	NM_001257180.2(SLC20A2):c.1709+275G>C	not provided [RCV001725368]	benign	8	42429789	42429789	Human		name
329353280	CV2477051	deletion	NM_001257180.2(SLC20A2):c.730_730+1del	not provided [RCV003223283]	pathogenic	8	42444645	42444646	Human		name
153348329	CV1695361	deletion	NM_001257180.2(SLC20A2):c.731-18_738del	Idiopathic basal ganglia calcification 1 [RCV005420425]	pathogenic	8	42439646	42439671	Human	1	name
152098182	CV1611669	single nucleotide variant	NM_001257180.2(SLC20A2):c.81C>T (p.Asn27=)	not provided [RCV002172749]	likely benign	8	42472310	42472310	Human		name
156333754	CV2112927	single nucleotide variant	NM_001257180.2(SLC20A2):c.1A>G (p.Met1Val)	not provided [RCV002938510]	uncertain significance	8	42472390	42472390	Human		name
11582309	CV270630	single nucleotide variant	NM_001257180.2(SLC20A2):c.58T>C (p.Leu20=)	Idiopathic basal ganglia calcification 1 [RCV005419950]\|not provided [RCV000860753]\|not specified [RCV000394743]	benign\|likely benign	8	42472333	42472333	Human	1	name
598269262	CV3921811	single nucleotide variant	NM_001257180.2(SLC20A2):c.4G>A (p.Ala2Thr)	Inborn genetic diseases [RCV005281931]	uncertain significance	8	42472387	42472387	Human	1	name
14696198	CV622734	deletion	NM_001257180.2(SLC20A2):c.21del (p.Leu7fs)	Idiopathic basal ganglia calcification 1 [RCV005420246]\|not provided [RCV005092346]	pathogenic\|likely pathogenic	8	42472370	42472370	Human	1	name
8633017	CV88231	single nucleotide variant	NM_006749.4(SLC20A2):c.107C>T (p.Ala36Val)	Malignant melanoma [RCV000068323]	not provided	8	42472284	42472284	Human		name
28908999	CV899623	single nucleotide variant	NM_001257180.2(SLC20A2):c.69T>A (p.Ser23=)	Idiopathic basal ganglia calcification 1 [RCV005420356]	uncertain significance	8	42472322	42472322	Human	1	name
151784953	CV1454725	single nucleotide variant	NM_001257180.2(SLC20A2):c.23G>A (p.Trp8Ter)	not provided [RCV001972438]	pathogenic	8	42472368	42472368	Human		name
11608462	CV314460	single nucleotide variant	NM_001257180.2(SLC20A2):c.138G>A (p.Gln46=)	Idiopathic basal ganglia calcification 1 [RCV005420193]\|not provided [RCV000972160]	benign\|likely benign	8	42472253	42472253	Human	1	name
11604793	CV314479	single nucleotide variant	NM_001257180.2(SLC20A2):c.186A>G (p.Leu62=)	Idiopathic basal ganglia calcification 1 [RCV005420192]\|SLC20A2-related disorder [RCV003897809]\|not provided [RCV000935048]	benign\|likely benign\|uncertain significance	8	42472205	42472205	Human	1	name , trait , alternate_id
402503310	CV3171008	single nucleotide variant	NM_001257180.2(SLC20A2):c.261C>T (p.Leu87=)	not provided [RCV003878195]	likely benign	8	42472130	42472130	Human		name
15116793	CV736681	single nucleotide variant	NM_001257180.2(SLC20A2):c.219T>C (p.Gly73=)	not provided [RCV000895264]	likely benign	8	42472172	42472172	Human		name
8633016	CV88230	single nucleotide variant	NM_006749.4(SLC20A2):c.529C>T (p.Pro177Ser)	Malignant melanoma [RCV000068322]	not provided	8	42459980	42459980	Human		name
38460193	CV919155	deletion	NM_001257180.2(SLC20A2):c.99del (p.Phe33fs)	Idiopathic basal ganglia calcification 1 [RCV005420378]	pathogenic	8	42472292	42472292	Human	1	name
150542711	CV1302682	single nucleotide variant	NM_001257180.2(SLC20A2):c.38G>A (p.Gly13Asp)	not provided [RCV001761372]	uncertain significance	8	42472353	42472353	Human		name
151234785	CV1320506	single nucleotide variant	NM_001257180.2(SLC20A2):c.56T>C (p.Ile19Thr)	Idiopathic basal ganglia calcification 1 [RCV005420414]\|not provided [RCV001800130]	uncertain significance	8	42472335	42472335	Human	1	name
152123885	CV1563954	single nucleotide variant	NM_001257180.2(SLC20A2):c.954C>G (p.Thr318=)	not provided [RCV002175938]	likely benign	8	42437558	42437558	Human		name
152150447	CV1625767	single nucleotide variant	NM_001257180.2(SLC20A2):c.666C>T (p.Val222=)	not provided [RCV002139433]	likely benign	8	42444710	42444710	Human		name
152104613	CV1633808	single nucleotide variant	NM_001257180.2(SLC20A2):c.561T>C (p.Tyr187=)	not provided [RCV002195988]	likely benign	8	42459948	42459948	Human		name
156221976	CV1899853	single nucleotide variant	NM_001257180.2(SLC20A2):c.987C>T (p.Gly329=)	not provided [RCV003085033]	benign	8	42437525	42437525	Human		name
156349818	CV1978195	single nucleotide variant	NM_001257180.2(SLC20A2):c.715C>A (p.Arg239=)	not provided [RCV002601741]	likely benign	8	42444661	42444661	Human		name
243053199	CV2404520	single nucleotide variant	NM_001257180.2(SLC20A2):c.73G>C (p.Gly25Arg)	not provided [RCV003129547]	uncertain significance	8	42472318	42472318	Human		name
11598752	CV305361	single nucleotide variant	NM_001257180.2(SLC20A2):c.909G>A (p.Ala303=)	Idiopathic basal ganglia calcification 1 [RCV005420180]\|not provided [RCV000894258]	benign\|likely benign\|conflicting interpretations of pathogenicity	8	42439475	42439475	Human	1	name
11607101	CV305364	single nucleotide variant	NM_001257180.2(SLC20A2):c.834G>A (p.Lys278=)	Idiopathic basal ganglia calcification 1 [RCV005420184]	uncertain significance	8	42439550	42439550	Human	1	name
11602886	CV305374	single nucleotide variant	NM_001257180.2(SLC20A2):c.345G>A (p.Thr115=)	Idiopathic basal ganglia calcification 1 [RCV005420189]\|not provided [RCV000860821]\|not specified [RCV001579528]	benign\|likely benign	8	42465862	42465862	Human	1	name
11607477	CV309184	single nucleotide variant	NM_001257180.2(SLC20A2):c.678C>T (p.Phe226=)	Idiopathic basal ganglia calcification 1 [RCV005420187]\|not provided [RCV000912396]	likely benign	8	42444698	42444698	Human	1	name
405155545	CV3135205	single nucleotide variant	NM_001257180.2(SLC20A2):c.345G>T (p.Thr115=)	not provided [RCV003840317]	likely benign	8	42465862	42465862	Human		name
11605306	CV314450	single nucleotide variant	NM_001257180.2(SLC20A2):c.933C>T (p.Tyr311=)	Idiopathic basal ganglia calcification 1 [RCV005420178]\|not provided [RCV000860804]	benign\|likely benign	8	42439451	42439451	Human	1	name
11605809	CV314453	single nucleotide variant	NM_001257180.2(SLC20A2):c.883C>T (p.Leu295=)	Idiopathic basal ganglia calcification 1 [RCV005420181]\|not provided [RCV002524566]	likely benign\|uncertain significance	8	42439501	42439501	Human	1	name
11610244	CV314469	single nucleotide variant	NM_001257180.2(SLC20A2):c.849C>T (p.Ser283=)	Idiopathic basal ganglia calcification 1 [RCV005420182]\|not provided [RCV000899040]	benign\|likely benign	8	42439535	42439535	Human	1	name
11601671	CV314477	single nucleotide variant	NM_001257180.2(SLC20A2):c.846C>T (p.Asp282=)	Idiopathic basal ganglia calcification 1 [RCV005420183]\|not provided [RCV000593584]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	42439538	42439538	Human	1	name
596923503	CV3530456	single nucleotide variant	NM_001257180.2(SLC20A2):c.97T>C (p.Phe33Leu)	not provided [RCV004777055]	uncertain significance	8	42472294	42472294	Human		name
12742119	CV359854	single nucleotide variant	NM_001257180.2(SLC20A2):c.82G>A (p.Asp28Asn)	SLC20A2-related disorder [RCV003409577]\|not provided [RCV000412914]	pathogenic\|likely pathogenic	8	42472309	42472309	Human	1	name , trait , alternate_id
597836357	CV3739853	single nucleotide variant	NM_001257180.2(SLC20A2):c.858G>A (p.Pro286=)	not provided [RCV005064073]	likely benign	8	42439526	42439526	Human		name
597934700	CV3750522	single nucleotide variant	NM_001257180.2(SLC20A2):c.585C>A (p.Val195=)	not provided [RCV005076447]	likely benign	8	42459924	42459924	Human		name
597922821	CV3777796	single nucleotide variant	NM_001257180.2(SLC20A2):c.74G>C (p.Gly25Ala)	not provided [RCV005130520]	uncertain significance	8	42472317	42472317	Human		name
597959725	CV3797630	single nucleotide variant	NM_001257180.2(SLC20A2):c.38G>T (p.Gly13Val)	not provided [RCV005138317]	uncertain significance	8	42472353	42472353	Human		name
598122656	CV3884588	single nucleotide variant	NM_001257180.2(SLC20A2):c.723A>G (p.Lys241=)	not specified [RCV005237280]	likely benign	8	42444653	42444653	Human		name
616934998	CV4009225	single nucleotide variant	NM_001257180.2(SLC20A2):c.85G>C (p.Val29Leu)	not provided [RCV005402397]	uncertain significance	8	42472306	42472306	Human		name
15139549	CV736679	single nucleotide variant	NM_001257180.2(SLC20A2):c.708G>A (p.Pro236=)	not provided [RCV000899164]	likely benign	8	42444668	42444668	Human		name
15188461	CV736680	single nucleotide variant	NM_001257180.2(SLC20A2):c.687T>C (p.Phe229=)	SLC20A2-related disorder [RCV003968368]\|not provided [RCV000909375]	likely benign	8	42444689	42444689	Human	1	name , trait , alternate_id
15158219	CV751170	single nucleotide variant	NM_001257180.2(SLC20A2):c.618C>T (p.Leu206=)	not provided [RCV000925024]	likely benign	8	42444758	42444758	Human		name
15118656	CV766825	single nucleotide variant	NM_001257180.2(SLC20A2):c.765A>G (p.Val255=)	not provided [RCV000940049]	likely benign	8	42439619	42439619	Human		name
15110145	CV783112	single nucleotide variant	NM_001257180.2(SLC20A2):c.741A>G (p.Gln247=)	not provided [RCV000977377]	likely benign	8	42439643	42439643	Human		name
150549984	CV1299764	single nucleotide variant	NM_001257180.2(SLC20A2):c.136C>G (p.Gln46Glu)	not provided [RCV001752690]	uncertain significance	8	42472255	42472255	Human		name
150554479	CV1304180	single nucleotide variant	NM_001257180.2(SLC20A2):c.176C>T (p.Ser59Phe)	not provided [RCV001771150]	uncertain significance	8	42472215	42472215	Human		name
151350127	CV1324604	single nucleotide variant	NM_001257180.2(SLC20A2):c.218G>T (p.Gly73Val)	Idiopathic basal ganglia calcification 1 [RCV005420415]	uncertain significance	8	42472173	42472173	Human	1	name
151718902	CV1419841	single nucleotide variant	NM_001257180.2(SLC20A2):c.1872G>A (p.Val624=)	not provided [RCV001965657]	likely benign\|uncertain significance	8	42417890	42417890	Human		name
151872433	CV1480666	single nucleotide variant	NM_001257180.2(SLC20A2):c.212G>A (p.Arg71His)	not provided [RCV001906662]	uncertain significance	8	42472179	42472179	Human		name
151742025	CV1492631	single nucleotide variant	NM_001257180.2(SLC20A2):c.1710C>T (p.Ser570=)	not provided [RCV002042323]	uncertain significance	8	42428842	42428842	Human		name
152031896	CV1624548	single nucleotide variant	NM_001257180.2(SLC20A2):c.1203C>T (p.Thr401=)	not provided [RCV002186795]	likely benign	8	42437309	42437309	Human		name
153303723	CV1690440	single nucleotide variant	NM_001257180.2(SLC20A2):c.295G>A (p.Ala99Thr)	Inborn genetic diseases [RCV004047468]\|not provided [RCV002269484]\|not specified [RCV003491065]	uncertain significance	8	42465912	42465912	Human	1	name
155796341	CV1861797	deletion	NM_001257180.2(SLC20A2):c.852del (p.Ile285fs)	Idiopathic basal ganglia calcification 1 [RCV005420433]\|SLC20A2-related disorder [RCV003427487]\|not provided [RCV002571447]	pathogenic\|likely pathogenic	8	42439532	42439532	Human	1	name , trait , alternate_id
156056460	CV1879619	single nucleotide variant	NM_001257180.2(SLC20A2):c.1641C>T (p.Gly547=)	not provided [RCV003053182]	likely benign	8	42430132	42430132	Human		name
156207530	CV1906032	single nucleotide variant	NM_001257180.2(SLC20A2):c.178G>A (p.Val60Met)	Inborn genetic diseases [RCV004073140]\|not provided [RCV003084462]	uncertain significance	8	42472213	42472213	Human	1	name
156120933	CV2039860	single nucleotide variant	NM_001257180.2(SLC20A2):c.1017C>T (p.Ser339=)	not provided [RCV002785788]	likely benign	8	42437495	42437495	Human		name
155994792	CV2122505	single nucleotide variant	NM_001257180.2(SLC20A2):c.1242G>A (p.Glu414=)	SLC20A2-related disorder [RCV003973586]\|not provided [RCV002974898]	likely benign	8	42437270	42437270	Human	1	name , trait , alternate_id
156044999	CV2157677	duplication	NM_001257180.2(SLC20A2):c.687dup (p.Val230fs)	not provided [RCV003019201]	pathogenic	8	42444688	42444689	Human		name
156434269	CV2401943	single nucleotide variant	NM_001257180.2(SLC20A2):c.185T>C (p.Leu62Pro)	Idiopathic basal ganglia calcification 1 [RCV005420437]	pathogenic	8	42472206	42472206	Human	1	name
156451089	CV2402466	single nucleotide variant	NM_001257180.2(SLC20A2):c.211C>T (p.Arg71Cys)	not provided [RCV003123267]	uncertain significance	8	42472180	42472180	Human		name
329954903	CV2670835	single nucleotide variant	NM_001257180.2(SLC20A2):c.172G>A (p.Gly58Ser)	not provided [RCV003236103]	uncertain significance	8	42472219	42472219	Human		name
11580720	CV269079	single nucleotide variant	NM_001257180.2(SLC20A2):c.1812C>T (p.Ala604=)	Idiopathic basal ganglia calcification 1 [RCV005419949]\|not provided [RCV000861358]\|not specified [RCV000381374]	benign\|likely benign	8	42417950	42417950	Human	1	name
402520764	CV2871092	single nucleotide variant	NM_001257180.2(SLC20A2):c.1194G>A (p.Val398=)	not provided [RCV003547680]	likely benign	8	42437318	42437318	Human		name
11601996	CV305340	single nucleotide variant	NM_001257180.2(SLC20A2):c.1911C>T (p.Ser637=)	Idiopathic basal ganglia calcification 1 [RCV005420167]\|not provided [RCV002058734]	benign\|likely benign	8	42417851	42417851	Human	1	name
11607633	CV305342	single nucleotide variant	NM_001257180.2(SLC20A2):c.1572C>T (p.Gly524=)	Idiopathic basal ganglia calcification 1 [RCV005420170]\|not provided [RCV000911909]	likely benign	8	42430201	42430201	Human	1	name
405030486	CV3077416	single nucleotide variant	NM_001257180.2(SLC20A2):c.1215G>T (p.Ala405=)	not provided [RCV003739108]	likely benign	8	42437297	42437297	Human		name
11611904	CV309169	single nucleotide variant	NM_001257180.2(SLC20A2):c.1803G>A (p.Ser601=)	Idiopathic basal ganglia calcification 1 [RCV005420168]	uncertain significance	8	42417959	42417959	Human	1	name
11599130	CV309174	single nucleotide variant	NM_001257180.2(SLC20A2):c.1008C>T (p.His336=)	Idiopathic basal ganglia calcification 1 [RCV005420177]\|SLC20A2-related disorder [RCV003972531]\|not provided [RCV001618662]	benign\|likely benign\|conflicting interpretations of pathogenicity	8	42437504	42437504	Human	1	name , trait , alternate_id
405211977	CV3142603	single nucleotide variant	NM_001257180.2(SLC20A2):c.1656G>A (p.Gly552=)	not provided [RCV003845960]	likely benign	8	42430117	42430117	Human		name
11609621	CV314442	single nucleotide variant	NM_001257180.2(SLC20A2):c.1254C>T (p.Gly418=)	Idiopathic basal ganglia calcification 1 [RCV005420173]\|SLC20A2-related disorder [RCV003912555]\|not provided [RCV000860884]	benign\|likely benign\|conflicting interpretations of pathogenicity	8	42437258	42437258	Human	1	name , trait , alternate_id
11600694	CV314444	single nucleotide variant	NM_001257180.2(SLC20A2):c.1134G>T (p.Arg378=)	Idiopathic basal ganglia calcification 1 [RCV005420174]\|not provided [RCV000975185]	benign\|likely benign	8	42437378	42437378	Human	1	name
11609322	CV314465	single nucleotide variant	NM_001257180.2(SLC20A2):c.1011C>A (p.Thr337=)	Idiopathic basal ganglia calcification 1 [RCV005420176]\|SLC20A2-related disorder [RCV003912556]\|not provided [RCV000860885]	benign\|likely benign\|conflicting interpretations of pathogenicity	8	42437501	42437501	Human	1	name , trait , alternate_id
405179033	CV3147334	single nucleotide variant	NM_001257180.2(SLC20A2):c.1950A>G (p.Pro650=)	not provided [RCV003842236]	uncertain significance	8	42417812	42417812	Human		name
405238887	CV3165792	single nucleotide variant	NM_001257180.2(SLC20A2):c.1407C>T (p.Asp469=)	not provided [RCV003866804]	likely benign	8	42437105	42437105	Human		name
405261895	CV3194321	single nucleotide variant	NM_001257180.2(SLC20A2):c.176C>A (p.Ser59Tyr)	SLC20A2-related disorder [RCV003896354]	uncertain significance	8	42472215	42472215	Human		name , trait , alternate_id
407573503	CV3499305	deletion	NM_001257180.2(SLC20A2):c.649del (p.Leu217fs)	Idiopathic basal ganglia calcification 1 [RCV005420455]	pathogenic	8	42444727	42444727	Human	1	name
597709499	CV3596426	single nucleotide variant	NM_001257180.2(SLC20A2):c.262A>G (p.Met88Val)	Inborn genetic diseases [RCV004957881]	uncertain significance	8	42472129	42472129	Human	1	name
597945646	CV3755409	single nucleotide variant	NM_001257180.2(SLC20A2):c.1482C>T (p.Thr494=)	not provided [RCV005078418]	likely benign	8	42437030	42437030	Human		name
597831692	CV3759786	single nucleotide variant	NM_001257180.2(SLC20A2):c.1137G>A (p.Leu379=)	not provided [RCV005084724]	likely benign	8	42437375	42437375	Human		name
597875174	CV3766173	single nucleotide variant	NM_001257180.2(SLC20A2):c.1293C>T (p.Asp431=)	not provided [RCV005108305]	likely benign	8	42437219	42437219	Human		name
597968672	CV3791028	single nucleotide variant	NM_001257180.2(SLC20A2):c.109G>A (p.Val37Met)	not provided [RCV005141060]	uncertain significance	8	42472282	42472282	Human		name
597863634	CV3814055	single nucleotide variant	NM_001257180.2(SLC20A2):c.1215G>A (p.Ala405=)	not provided [RCV005147124]	likely benign	8	42437297	42437297	Human		name
597877255	CV3825761	single nucleotide variant	NM_001257180.2(SLC20A2):c.1263G>A (p.Val421=)	not provided [RCV005177635]	likely benign	8	42437249	42437249	Human		name
598159687	CV3897139	single nucleotide variant	NM_001257180.2(SLC20A2):c.229G>A (p.Val77Met)	not provided [RCV005368113]	uncertain significance	8	42472162	42472162	Human		name
598269255	CV3921810	single nucleotide variant	NM_001257180.2(SLC20A2):c.1606C>T (p.Leu536=)	Inborn genetic diseases [RCV005281930]	likely benign	8	42430167	42430167	Human	1	name
13489590	CV444285	duplication	NM_001257180.2(SLC20A2):c.458dup (p.Leu153fs)	not provided [RCV000523937]	pathogenic	8	42463062	42463063	Human		name
13592713	CV513427	single nucleotide variant	NM_001257180.2(SLC20A2):c.136C>T (p.Gln46Ter)	Idiopathic basal ganglia calcification 1 [RCV005420219]\|not provided [RCV002272308]	pathogenic	8	42472255	42472255	Human	1	name
14696196	CV622731	deletion	NM_001257180.2(SLC20A2):c.303del (p.Trp101fs)	Idiopathic basal ganglia calcification 1 [RCV005420244]	likely pathogenic	8	42465904	42465904	Human	1	name
14695588	CV622732	single nucleotide variant	NM_001257180.2(SLC20A2):c.188G>A (p.Gly63Asp)	Idiopathic basal ganglia calcification 1 [RCV005420240]	likely pathogenic	8	42472203	42472203	Human	1	name
14695589	CV622733	single nucleotide variant	NM_001257180.2(SLC20A2):c.187G>A (p.Gly63Ser)	Idiopathic basal ganglia calcification 1 [RCV005420241]\|not provided [RCV003558588]	likely pathogenic\|uncertain significance	8	42472204	42472204	Human	1	name
14726358	CV637217	single nucleotide variant	NM_001257180.2(SLC20A2):c.104C>A (p.Thr35Lys)	not provided [RCV000799171]	uncertain significance	8	42472287	42472287	Human		name
15179296	CV736676	single nucleotide variant	NM_001257180.2(SLC20A2):c.1518C>T (p.Asp506=)	not provided [RCV000907075]	likely benign	8	42436994	42436994	Human		name
15114281	CV736677	single nucleotide variant	NM_001257180.2(SLC20A2):c.1282C>T (p.Leu428=)	Idiopathic basal ganglia calcification 1 [RCV005420260]\|not provided [RCV000894827]	benign\|likely benign	8	42437230	42437230	Human	1	name
15193631	CV751169	single nucleotide variant	NM_001257180.2(SLC20A2):c.1704G>A (p.Pro568=)	not provided [RCV000910895]	likely benign	8	42430069	42430069	Human		name
15103226	CV783111	single nucleotide variant	NM_001257180.2(SLC20A2):c.1869C>T (p.Phe623=)	not provided [RCV000975974]	likely benign	8	42417893	42417893	Human		name
8633015	CV88229	single nucleotide variant	NM_001257180.2(SLC20A2):c.1530C>T (p.Ala510=)	not provided [RCV005144030]	likely benign\|not provided	8	42430243	42430243	Human		name
28908801	CV899614	single nucleotide variant	NM_001257180.2(SLC20A2):c.1701G>A (p.Thr567=)	Idiopathic basal ganglia calcification 1 [RCV005420352]\|SLC20A2-related disorder [RCV003953544]\|not provided [RCV002558517]	likely benign	8	42430072	42430072	Human	1	name , trait , alternate_id
28870741	CV899618	single nucleotide variant	NM_001257180.2(SLC20A2):c.1197C>T (p.His399=)	Idiopathic basal ganglia calcification 1 [RCV005420366]	uncertain significance	8	42437315	42437315	Human	1	name
28870744	CV899619	single nucleotide variant	NM_001257180.2(SLC20A2):c.1101C>G (p.Pro367=)	Idiopathic basal ganglia calcification 1 [RCV005420367]\|SLC20A2-related disorder [RCV003938536]\|not provided [RCV002067989]	benign\|likely benign	8	42437411	42437411	Human	1	name , trait , alternate_id
28908997	CV899622	single nucleotide variant	NM_001257180.2(SLC20A2):c.119G>A (p.Gly40Asp)	Idiopathic basal ganglia calcification 1 [RCV005420355]	uncertain significance	8	42472272	42472272	Human	1	name
8647080	CV106716	single nucleotide variant	NM_001257180.2(SLC20A2):c.353T>C (p.Ile118Thr)	not provided [RCV000087218]	uncertain significance	8	42465854	42465854	Human		name
150406678	CV1199971	single nucleotide variant	NM_001257180.2(SLC20A2):c.542G>A (p.Arg181Gln)	Idiopathic basal ganglia calcification 1 [RCV005420407]\|Inborn genetic diseases [RCV004039459]\|not provided [RCV001579452]	uncertain significance	8	42459967	42459967	Human	2	name
151857399	CV1347374	single nucleotide variant	NM_001257180.2(SLC20A2):c.596T>C (p.Met199Thr)	not provided [RCV002033943]	uncertain significance	8	42459913	42459913	Human		name
151747375	CV1352926	single nucleotide variant	NM_001257180.2(SLC20A2):c.635T>C (p.Met212Thr)	not provided [RCV001912587]	uncertain significance	8	42444741	42444741	Human		name
151789513	CV1396975	single nucleotide variant	NM_001257180.2(SLC20A2):c.592A>G (p.Ile198Val)	not provided [RCV001951912]	uncertain significance	8	42459917	42459917	Human		name
151835322	CV1420198	single nucleotide variant	NM_001257180.2(SLC20A2):c.763G>A (p.Val255Ile)	Inborn genetic diseases [RCV003170421]\|not provided [RCV001977076]	uncertain significance	8	42439621	42439621	Human	1	name
151762272	CV1423725	single nucleotide variant	NM_001257180.2(SLC20A2):c.902C>T (p.Thr301Ile)	not provided [RCV002008013]	uncertain significance	8	42439482	42439482	Human		name
151800589	CV1474864	single nucleotide variant	NM_001257180.2(SLC20A2):c.777C>G (p.Ser259Arg)	Inborn genetic diseases [RCV003170062]\|not provided [RCV001952886]	uncertain significance	8	42439607	42439607	Human	1	name
151815869	CV1475842	single nucleotide variant	NM_001257180.2(SLC20A2):c.962C>T (p.Ser321Phe)	not provided [RCV001992280]	uncertain significance	8	42437550	42437550	Human		name
151863767	CV1498611	single nucleotide variant	NM_001257180.2(SLC20A2):c.619G>A (p.Gly207Ser)	Inborn genetic diseases [RCV002608026]\|not provided [RCV001980467]	uncertain significance	8	42444757	42444757	Human	1	name
151799080	CV1504013	single nucleotide variant	NM_001257180.2(SLC20A2):c.871G>C (p.Ala291Pro)	not provided [RCV001973740]	uncertain significance	8	42439513	42439513	Human		name
151888841	CV1509263	single nucleotide variant	NM_001257180.2(SLC20A2):c.908C>T (p.Ala303Val)	not provided [RCV001888052]	uncertain significance	8	42439476	42439476	Human		name
153000721	CV1684287	deletion	NM_001257180.2(SLC20A2):c.80_92del (p.Asn27fs)	Idiopathic basal ganglia calcification 1 [RCV005420422]	pathogenic	8	42472299	42472311	Human	1	name
153301647	CV1685813	single nucleotide variant	NM_001257180.2(SLC20A2):c.638G>C (p.Trp213Ser)	not provided [RCV002260790]	uncertain significance	8	42444738	42444738	Human		name
155642318	CV1707328	single nucleotide variant	NM_001257180.2(SLC20A2):c.601A>G (p.Thr201Ala)	Idiopathic basal ganglia calcification 1 [RCV005420427]	uncertain significance	8	42459908	42459908	Human	1	name
155798954	CV1859358	single nucleotide variant	NM_001257180.2(SLC20A2):c.344C>A (p.Thr115Lys)	Idiopathic basal ganglia calcification 1 [RCV005420432]	pathogenic\|likely pathogenic	8	42465863	42465863	Human	1	name
155798548	CV1860698	single nucleotide variant	NM_001257180.2(SLC20A2):c.452C>A (p.Pro151Gln)	not provided [RCV002467341]	uncertain significance	8	42463069	42463069	Human		name
156363637	CV1901482	single nucleotide variant	NM_001257180.2(SLC20A2):c.575C>T (p.Ala192Val)	not provided [RCV002602669]	uncertain significance	8	42459934	42459934	Human		name
156379905	CV1903481	single nucleotide variant	NM_001257180.2(SLC20A2):c.613G>A (p.Val205Met)	not provided [RCV003093188]	uncertain significance	8	42459896	42459896	Human		name
156375197	CV1960105	single nucleotide variant	NM_001257180.2(SLC20A2):c.919C>T (p.Pro307Ser)	not provided [RCV002582742]	uncertain significance	8	42439465	42439465	Human		name
156311288	CV2133304	single nucleotide variant	NM_001257180.2(SLC20A2):c.644T>C (p.Ile215Thr)	not provided [RCV003011126]	uncertain significance	8	42444732	42444732	Human		name
156205971	CV2160121	single nucleotide variant	NM_001257180.2(SLC20A2):c.796G>A (p.Ala266Thr)	not provided [RCV003042150]	uncertain significance	8	42439588	42439588	Human		name
156244381	CV2283344	single nucleotide variant	NM_001257180.2(SLC20A2):c.892T>C (p.Ser298Pro)	Inborn genetic diseases [RCV002854441]\|not provided [RCV005099740]	benign\|uncertain significance	8	42439492	42439492	Human	1	name
156250718	CV2286747	single nucleotide variant	NM_001257180.2(SLC20A2):c.944T>C (p.Leu315Pro)	Inborn genetic diseases [RCV002854817]	uncertain significance	8	42437568	42437568	Human	1	name
156074338	CV2331651	single nucleotide variant	NM_001257180.2(SLC20A2):c.716G>A (p.Arg239Gln)	Inborn genetic diseases [RCV002951422]	uncertain significance	8	42444660	42444660	Human	1	name
329388450	CV2471938	single nucleotide variant	NM_001257180.2(SLC20A2):c.385G>A (p.Ala129Thr)	Inborn genetic diseases [RCV003215774]	uncertain significance	8	42465822	42465822	Human	1	name
11632645	CV264362	single nucleotide variant	NM_001257180.2(SLC20A2):c.971C>A (p.Ser324Ter)	not provided [RCV000273016]	pathogenic	8	42437541	42437541	Human		name
11633338	CV264390	single nucleotide variant	NM_001257180.2(SLC20A2):c.338C>G (p.Ser113Ter)	not provided [RCV000330173]	pathogenic	8	42465869	42465869	Human		name
329954062	CV2669393	single nucleotide variant	NM_001257180.2(SLC20A2):c.835G>A (p.Ala279Thr)	not provided [RCV003231901]	uncertain significance	8	42439549	42439549	Human		name
401796617	CV2740787	deletion	NM_001257180.2(SLC20A2):c.58_62del (p.Ala21fs)	Idiopathic basal ganglia calcification 1 [RCV005420444]	pathogenic	8	42472329	42472333	Human	1	name
401797191	CV2741974	single nucleotide variant	NM_001257180.2(SLC20A2):c.811T>C (p.Phe271Leu)	not specified [RCV003324150]	uncertain significance	8	42439573	42439573	Human		name
401913115	CV2830206	single nucleotide variant	NM_001257180.2(SLC20A2):c.707C>T (p.Pro236Leu)	not provided [RCV003441421]	uncertain significance	8	42444669	42444669	Human		name
405240954	CV2905072	single nucleotide variant	NM_001257180.2(SLC20A2):c.344C>T (p.Thr115Met)	SLC20A2-related disorder [RCV003901186]\|not provided [RCV003557396]	pathogenic	8	42465863	42465863	Human	1	name , trait , alternate_id
405146040	CV2949959	single nucleotide variant	NM_001257180.2(SLC20A2):c.693G>C (p.Trp231Cys)	not provided [RCV003669676]	uncertain significance	8	42444683	42444683	Human		name
404981425	CV3006436	single nucleotide variant	NM_001257180.2(SLC20A2):c.711G>C (p.Trp237Cys)	not provided [RCV003691293]	uncertain significance	8	42444665	42444665	Human		name
405002361	CV3016146	single nucleotide variant	NM_001257180.2(SLC20A2):c.486T>G (p.Phe162Leu)	not provided [RCV003693300]	uncertain significance	8	42463035	42463035	Human		name
11610654	CV305369	single nucleotide variant	NM_001257180.2(SLC20A2):c.787G>A (p.Val263Ile)	Idiopathic basal ganglia calcification 1 [RCV005420185]	benign\|likely benign	8	42439597	42439597	Human	1	name
11609822	CV309182	single nucleotide variant	NM_001257180.2(SLC20A2):c.910G>A (p.Gly304Ser)	Idiopathic basal ganglia calcification 1 [RCV005420179]\|not provided [RCV001522227]\|not specified [RCV001580040]	benign	8	42439474	42439474	Human	1	name
11611767	CV309187	single nucleotide variant	NM_001257180.2(SLC20A2):c.553G>C (p.Val185Leu)	Idiopathic basal ganglia calcification 1 [RCV005420188]\|Inborn genetic diseases [RCV004022073]	likely benign\|uncertain significance	8	42459956	42459956	Human	2	name
405209287	CV3117235	single nucleotide variant	NM_001257180.2(SLC20A2):c.640G>C (p.Ala214Pro)	not provided [RCV003823022]	likely benign	8	42444736	42444736	Human		name
405092638	CV3134575	single nucleotide variant	NM_001257180.2(SLC20A2):c.929C>T (p.Ala310Val)	not provided [RCV003834921]	uncertain significance	8	42439455	42439455	Human		name
11602490	CV314478	single nucleotide variant	NM_001257180.2(SLC20A2):c.761G>A (p.Arg254Gln)	Idiopathic basal ganglia calcification 1 [RCV005420186]\|SLC20A2-related disorder [RCV003902418]\|not provided [RCV000861434]	benign\|likely benign	8	42439623	42439623	Human	1	name , trait , alternate_id
405712550	CV3325146	single nucleotide variant	NM_001257180.2(SLC20A2):c.391G>C (p.Gly131Arg)	Inborn genetic diseases [RCV004448693]	uncertain significance	8	42465816	42465816	Human	1	name
405712556	CV3325147	single nucleotide variant	NM_001257180.2(SLC20A2):c.411G>A (p.Trp137Ter)	Inborn genetic diseases [RCV004448694]	pathogenic	8	42465796	42465796	Human	1	name
405712561	CV3325148	single nucleotide variant	NM_001257180.2(SLC20A2):c.923G>A (p.Arg308Gln)	Inborn genetic diseases [RCV004448695]	uncertain significance	8	42439461	42439461	Human	1	name
407427154	CV3410491	single nucleotide variant	NM_001257180.2(SLC20A2):c.581A>G (p.Asn194Ser)	not specified [RCV004586138]	uncertain significance	8	42459928	42459928	Human		name
407574118	CV3498467	single nucleotide variant	NM_001257180.2(SLC20A2):c.993C>A (p.Phe331Leu)	not specified [RCV004702942]	uncertain significance	8	42437519	42437519	Human		name
408387025	CV3518659	single nucleotide variant	NM_001257180.2(SLC20A2):c.958G>A (p.Gly320Ser)	not provided [RCV004760978]	uncertain significance	8	42437554	42437554	Human		name
596922730	CV3530070	single nucleotide variant	NM_001257180.2(SLC20A2):c.838A>G (p.Asn280Asp)	not provided [RCV004776669]	uncertain significance	8	42439546	42439546	Human		name
596931335	CV3531671	single nucleotide variant	NM_001257180.2(SLC20A2):c.962C>A (p.Ser321Tyr)	not provided [RCV004781233]	uncertain significance	8	42437550	42437550	Human		name
596927332	CV3532562	single nucleotide variant	NM_001257180.2(SLC20A2):c.623T>A (p.Leu208His)	not provided [RCV004778660]	uncertain significance	8	42444753	42444753	Human		name
596938510	CV3549586	single nucleotide variant	NM_001257180.2(SLC20A2):c.608C>T (p.Ala203Val)	not provided [RCV004812626]	uncertain significance	8	42459901	42459901	Human		name
597709503	CV3596427	single nucleotide variant	NM_001257180.2(SLC20A2):c.863C>G (p.Thr288Arg)	Inborn genetic diseases [RCV004957882]	uncertain significance	8	42439521	42439521	Human	1	name
597709678	CV3596430	single nucleotide variant	NM_001257180.2(SLC20A2):c.797C>A (p.Ala266Glu)	Inborn genetic diseases [RCV004957885]	uncertain significance	8	42439587	42439587	Human	1	name
597656960	CV3731628	single nucleotide variant	NM_001257180.2(SLC20A2):c.730G>C (p.Gly244Arg)	not provided [RCV005001809]	uncertain significance	8	42444646	42444646	Human		name
597879127	CV3744479	single nucleotide variant	NM_001257180.2(SLC20A2):c.857C>T (p.Pro286Leu)	not provided [RCV005069693]	uncertain significance	8	42439527	42439527	Human		name
597855672	CV3747953	single nucleotide variant	NM_001257180.2(SLC20A2):c.893C>T (p.Ser298Leu)	not provided [RCV005066774]	uncertain significance	8	42439491	42439491	Human		name
597885259	CV3835035	single nucleotide variant	NM_001257180.2(SLC20A2):c.533A>T (p.Asn178Ile)	not provided [RCV005178759]	uncertain significance	8	42459976	42459976	Human		name
597859760	CV3850228	duplication	NM_001257180.2(SLC20A2):c.1303dup (p.Ser435fs)	not provided [RCV005195561]	pathogenic	8	42437208	42437209	Human		name
597918614	CV3861572	single nucleotide variant	NM_001257180.2(SLC20A2):c.410G>A (p.Trp137Ter)	not provided [RCV005204728]	pathogenic	8	42465797	42465797	Human		name
598235172	CV3893566	single nucleotide variant	NM_001257180.2(SLC20A2):c.881C>T (p.Thr294Ile)	not provided [RCV005256299]	uncertain significance	8	42439503	42439503	Human		name
598269248	CV3921808	single nucleotide variant	NM_001257180.2(SLC20A2):c.715C>T (p.Arg239Trp)	Inborn genetic diseases [RCV005281928]	uncertain significance	8	42444661	42444661	Human	1	name
598269274	CV3921813	single nucleotide variant	NM_001257180.2(SLC20A2):c.700G>C (p.Val234Leu)	Inborn genetic diseases [RCV005281933]	uncertain significance	8	42444676	42444676	Human	1	name
617150022	CV4017225	single nucleotide variant	NM_001257180.2(SLC20A2):c.610C>T (p.Pro204Ser)	not provided [RCV005416882]	uncertain significance	8	42459899	42459899	Human		name
12899276	CV407391	single nucleotide variant	NM_001257180.2(SLC20A2):c.394A>G (p.Thr132Ala)	not provided [RCV000479835]	uncertain significance	8	42465813	42465813	Human		name
13531863	CV511755	duplication	NM_001257180.2(SLC20A2):c.51_54dup (p.Ile19fs)	Inborn genetic diseases [RCV000623704]	pathogenic	8	42472336	42472337	Human	1	name
15194276	CV751171	single nucleotide variant	NM_001257180.2(SLC20A2):c.533A>G (p.Asn178Ser)	Inborn genetic diseases [RCV002540820]\|not provided [RCV000911078]	likely benign\|uncertain significance	8	42459976	42459976	Human	1	name
25317422	CV805576	single nucleotide variant	NM_001257180.2(SLC20A2):c.458T>A (p.Leu153Ter)	not provided [RCV001008017]	likely pathogenic	8	42463063	42463063	Human		name
26892543	CV834767	single nucleotide variant	NM_001257180.2(SLC20A2):c.857C>G (p.Pro286Arg)	Idiopathic basal ganglia calcification 1 [RCV005420279]\|Inborn genetic diseases [RCV003283943]\|not provided [RCV001061920]	uncertain significance	8	42439527	42439527	Human	2	name
28884716	CV859668	single nucleotide variant	NM_001257180.2(SLC20A2):c.436T>C (p.Ser146Pro)	SLC20A2-related disorder [RCV004753206]\|not provided [RCV001091602]	uncertain significance	8	42463085	42463085	Human	1	name , trait , alternate_id
8630964	CV86120	deletion	NM_006749.4(SLC20A2):c.508delT (p.Leu170Terfs)	Fahr's syndrome [RCV000066204]\|Idiopathic basal ganglia calcification 1 [RCV000066204]	pathogenic	8	42463013	42463013	Human		name
28871433	CV899620	single nucleotide variant	NM_001257180.2(SLC20A2):c.971C>T (p.Ser324Leu)	Idiopathic basal ganglia calcification 1 [RCV005420370]\|not provided [RCV002558581]	uncertain significance	8	42437541	42437541	Human	1	name
28906564	CV899621	single nucleotide variant	NM_001257180.2(SLC20A2):c.679G>A (p.Ala227Thr)	Idiopathic basal ganglia calcification 1 [RCV005420351]\|not provided [RCV003737006]	uncertain significance	8	42444697	42444697	Human	1	name
38457217	CV919154	single nucleotide variant	NM_001257180.2(SLC20A2):c.568A>G (p.Thr190Ala)	Idiopathic basal ganglia calcification 1 [RCV005420379]	uncertain significance	8	42459941	42459941	Human	1	name
126908282	CV1052642	single nucleotide variant	NM_001257180.2(SLC20A2):c.1703C>T (p.Pro568Leu)	Idiopathic basal ganglia calcification 1 [RCV005420401]\|not provided [RCV001751740]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	8	42430070	42430070	Human	1	name
150337433	CV1165877	single nucleotide variant	NM_001257180.2(SLC20A2):c.1423A>T (p.Lys475Ter)	not provided [RCV001532620]	pathogenic	8	42437089	42437089	Human		name
150407484	CV1199970	single nucleotide variant	NM_001257180.2(SLC20A2):c.1158C>A (p.Tyr386Ter)	not provided [RCV001579800]	pathogenic	8	42437354	42437354	Human		name
150499287	CV1254334	single nucleotide variant	NM_001257180.2(SLC20A2):c.1825C>T (p.Arg609Cys)	not provided [RCV001676508]	benign	8	42417937	42417937	Human		name
151726434	CV1291817	single nucleotide variant	NM_001257180.2(SLC20A2):c.1858C>T (p.Arg620Trp)	Vascular dementia [RCV002051766]	uncertain significance	8	42417904	42417904	Human	1	name
150546022	CV1297101	single nucleotide variant	NM_001257180.2(SLC20A2):c.1765G>A (p.Gly589Arg)	not provided [RCV001763392]	uncertain significance	8	42428787	42428787	Human		name
150552049	CV1300835	single nucleotide variant	NM_001257180.2(SLC20A2):c.1568A>G (p.Gln523Arg)	not provided [RCV001754695]	uncertain significance	8	42430205	42430205	Human		name
150545569	CV1315763	single nucleotide variant	NM_001257180.2(SLC20A2):c.1897G>T (p.Ala633Ser)	Idiopathic basal ganglia calcification 1 [RCV005420412]\|not provided [RCV002541221]	uncertain significance	8	42417865	42417865	Human	1	name
151350758	CV1325766	single nucleotide variant	NM_001257180.2(SLC20A2):c.1438G>T (p.Ala480Ser)	not specified [RCV001815112]	uncertain significance	8	42437074	42437074	Human		name
151350763	CV1325767	single nucleotide variant	NM_001257180.2(SLC20A2):c.1150A>T (p.Asn384Tyr)	Inborn genetic diseases [RCV002541504]\|not specified [RCV001815113]	uncertain significance	8	42437362	42437362	Human	1	name
151741755	CV1335527	single nucleotide variant	NM_001257180.2(SLC20A2):c.1845C>G (p.Asp615Glu)	Idiopathic basal ganglia calcification 1 [RCV005420418]	likely pathogenic	8	42417917	42417917	Human	1	name
151721666	CV1347759	single nucleotide variant	NM_001257180.2(SLC20A2):c.1349G>A (p.Gly450Asp)	not provided [RCV001966071]	uncertain significance	8	42437163	42437163	Human		name
151838236	CV1383147	single nucleotide variant	NM_001257180.2(SLC20A2):c.1595C>T (p.Thr532Ile)	Inborn genetic diseases [RCV002557726]\|not provided [RCV001921220]	uncertain significance	8	42430178	42430178	Human	1	name
151857392	CV1410581	single nucleotide variant	NM_001257180.2(SLC20A2):c.1223C>A (p.Ser408Ter)	not provided [RCV001996706]	pathogenic	8	42437289	42437289	Human		name
151835775	CV1436356	single nucleotide variant	NM_001257180.2(SLC20A2):c.1895T>C (p.Val632Ala)	not provided [RCV002014771]	uncertain significance	8	42417867	42417867	Human		name
151842372	CV1473553	single nucleotide variant	NM_001257180.2(SLC20A2):c.1033C>T (p.His345Tyr)	not provided [RCV002031973]	uncertain significance	8	42437479	42437479	Human		name
151785251	CV1481545	single nucleotide variant	NM_001257180.2(SLC20A2):c.1117C>T (p.Gln373Ter)	not provided [RCV001951471]	pathogenic	8	42437395	42437395	Human		name
152153499	CV1667673	single nucleotide variant	NM_001257180.2(SLC20A2):c.1144C>T (p.Arg382Ter)	Idiopathic basal ganglia calcification 1 [RCV005420420]	pathogenic	8	42437368	42437368	Human	1	name
155696075	CV1778559	single nucleotide variant	NM_001257180.2(SLC20A2):c.1535G>A (p.Gly512Asp)	not provided [RCV002299632]	uncertain significance	8	42430238	42430238	Human		name
155800266	CV1862868	single nucleotide variant	NM_001257180.2(SLC20A2):c.1933A>G (p.Met645Val)	Idiopathic basal ganglia calcification 1 [RCV005420435]	uncertain significance	8	42417829	42417829	Human	1	name
156201972	CV1868131	single nucleotide variant	NM_001257180.2(SLC20A2):c.1711G>A (p.Gly571Ser)	not provided [RCV003058191]	uncertain significance	8	42428841	42428841	Human		name
156180940	CV2068458	single nucleotide variant	NM_001257180.2(SLC20A2):c.1261G>A (p.Val421Met)	not provided [RCV002851833]	uncertain significance	8	42437251	42437251	Human		name
156191241	CV2086759	single nucleotide variant	NM_001257180.2(SLC20A2):c.1847G>A (p.Trp616Ter)	not provided [RCV002852145]	pathogenic	8	42417915	42417915	Human		name
155993102	CV2095592	single nucleotide variant	NM_001257180.2(SLC20A2):c.1586A>C (p.Glu529Ala)	not provided [RCV002908256]	uncertain significance	8	42430187	42430187	Human		name
156364626	CV2130514	single nucleotide variant	NM_001257180.2(SLC20A2):c.1070T>G (p.Leu357Arg)	not provided [RCV002967210]	uncertain significance	8	42437442	42437442	Human		name
156363540	CV2180672	single nucleotide variant	NM_001257180.2(SLC20A2):c.1000G>C (p.Asp334His)	not provided [RCV003049188]	uncertain significance	8	42437512	42437512	Human		name
156248427	CV2192634	single nucleotide variant	NM_001257180.2(SLC20A2):c.1399C>G (p.Arg467Gly)	not provided [RCV003059931]	uncertain significance	8	42437113	42437113	Human		name
156273190	CV2283811	single nucleotide variant	NM_001257180.2(SLC20A2):c.1331A>T (p.Glu444Val)	Inborn genetic diseases [RCV002832439]	uncertain significance	8	42437181	42437181	Human	1	name
156194181	CV2297072	single nucleotide variant	NM_001257180.2(SLC20A2):c.1450C>T (p.His484Tyr)	Inborn genetic diseases [RCV002874422]	uncertain significance	8	42437062	42437062	Human	1	name
156157669	CV2359979	single nucleotide variant	NM_001257180.2(SLC20A2):c.1223C>T (p.Ser408Leu)	Inborn genetic diseases [RCV003004943]\|not provided [RCV005099034]	uncertain significance	8	42437289	42437289	Human	1	name
243050233	CV2415427	single nucleotide variant	NM_001257180.2(SLC20A2):c.1158C>G (p.Tyr386Ter)	Idiopathic basal ganglia calcification 1 [RCV005420440]	pathogenic	8	42437354	42437354	Human	1	name
329350781	CV2421816	single nucleotide variant	NM_001257180.2(SLC20A2):c.1807G>A (p.Val603Met)	not provided [RCV003159520]	uncertain significance	8	42417955	42417955	Human		name
329848735	CV2523483	single nucleotide variant	NM_001257180.2(SLC20A2):c.1555C>G (p.Leu519Val)	not provided [RCV003225497]	uncertain significance	8	42430218	42430218	Human		name
401858741	CV2750635	single nucleotide variant	NM_001257180.2(SLC20A2):c.1681A>T (p.Lys561Ter)	not provided [RCV003334308]	pathogenic	8	42430092	42430092	Human		name
405170931	CV2854412	single nucleotide variant	NM_001257180.2(SLC20A2):c.1762A>G (p.Ile588Val)	Inborn genetic diseases [RCV004364926]\|not provided [RCV003542159]	likely benign	8	42428790	42428790	Human	1	name
405240943	CV2905070	single nucleotide variant	NM_001257180.2(SLC20A2):c.1652G>A (p.Trp551Ter)	not provided [RCV003557394]	pathogenic	8	42430121	42430121	Human		name
405063127	CV2927182	single nucleotide variant	NM_001257180.2(SLC20A2):c.1504C>T (p.His502Tyr)	not provided [RCV003580621]	uncertain significance	8	42437008	42437008	Human		name
404993787	CV2995979	single nucleotide variant	NM_001257180.2(SLC20A2):c.1292A>G (p.Asp431Gly)	not provided [RCV003692543]	uncertain significance	8	42437220	42437220	Human		name
405124257	CV3043316	duplication	NM_001257180.2(SLC20A2):c.1157dup (p.Tyr386Ter)	not provided [RCV003724216]	pathogenic	8	42437354	42437355	Human		name
11611179	CV305350	single nucleotide variant	NM_001257180.2(SLC20A2):c.1438G>A (p.Ala480Thr)	Idiopathic basal ganglia calcification 1 [RCV005420171]\|SLC20A2-related disorder [RCV003922634]\|not provided [RCV001523704]\|not specified [RCV001579610]	benign\|likely benign\|conflicting interpretations of pathogenicity	8	42437074	42437074	Human	1	name , trait , alternate_id
11604112	CV305352	single nucleotide variant	NM_001257180.2(SLC20A2):c.1377G>T (p.Glu459Asp)	Idiopathic basal ganglia calcification 1 [RCV005420172]	likely benign\|uncertain significance	8	42437135	42437135	Human	1	name
405103302	CV3116216	single nucleotide variant	NM_001257180.2(SLC20A2):c.1859G>A (p.Arg620Gln)	not provided [RCV003811932]	uncertain significance	8	42417903	42417903	Human		name
405213290	CV3127616	single nucleotide variant	NM_001257180.2(SLC20A2):c.1387C>A (p.Pro463Thr)	not provided [RCV003823664]	uncertain significance	8	42437125	42437125	Human		name
11603707	CV314438	single nucleotide variant	NM_001257180.2(SLC20A2):c.1576G>T (p.Val526Leu)	Idiopathic basal ganglia calcification 1 [RCV005420169]	uncertain significance	8	42430197	42430197	Human	1	name
11604715	CV314446	single nucleotide variant	NM_001257180.2(SLC20A2):c.1090G>A (p.Asp364Asn)	Idiopathic basal ganglia calcification 1 [RCV005420175]	uncertain significance	8	42437422	42437422	Human	1	name
405657195	CV3307223	single nucleotide variant	NM_001257180.2(SLC20A2):c.1288T>A (p.Tyr430Asn)	Idiopathic basal ganglia calcification 1 [RCV005420453]\|Inborn genetic diseases [RCV004953676]\|not provided [RCV004775559]	uncertain significance	8	42437224	42437224	Human	2	name
405712532	CV3325143	single nucleotide variant	NM_001257180.2(SLC20A2):c.1534G>A (p.Gly512Ser)	Inborn genetic diseases [RCV004448690]	uncertain significance	8	42430239	42430239	Human	1	name
405712537	CV3325144	single nucleotide variant	NM_001257180.2(SLC20A2):c.1764C>G (p.Ile588Met)	Inborn genetic diseases [RCV004448691]	uncertain significance	8	42428788	42428788	Human	1	name
405712545	CV3325145	single nucleotide variant	NM_001257180.2(SLC20A2):c.1778G>T (p.Ser593Ile)	Inborn genetic diseases [RCV004448692]	uncertain significance	8	42428774	42428774	Human	1	name
407457723	CV3416204	single nucleotide variant	NM_001257180.2(SLC20A2):c.1519G>A (p.Val507Met)	not provided [RCV004599082]	uncertain significance	8	42436993	42436993	Human		name
407508925	CV3477319	single nucleotide variant	NM_001257180.2(SLC20A2):c.1045A>G (p.Lys349Glu)	Inborn genetic diseases [RCV004672202]\|not provided [RCV004767669]	uncertain significance	8	42437467	42437467	Human	1	name
408384845	CV3506358	single nucleotide variant	NM_001257180.2(SLC20A2):c.1290C>G (p.Tyr430Ter)	SLC20A2-related disorder [RCV004732163]	likely pathogenic	8	42437222	42437222	Human		name , trait , alternate_id
408380068	CV3510457	single nucleotide variant	NM_001257180.2(SLC20A2):c.1016G>A (p.Ser339Asn)	Inborn genetic diseases [RCV005281554]\|SLC20A2-related disorder [RCV004753929]	uncertain significance	8	42437496	42437496	Human	2	name , trait , alternate_id
408380208	CV3511519	single nucleotide variant	NM_001257180.2(SLC20A2):c.1600G>A (p.Val534Ile)	Inborn genetic diseases [RCV004953723]\|SLC20A2-related disorder [RCV004753988]	likely benign	8	42430173	42430173	Human	2	name , trait , alternate_id
408386306	CV3528860	single nucleotide variant	NM_001257180.2(SLC20A2):c.1832G>A (p.Arg611His)	not provided [RCV004772693]	uncertain significance	8	42417930	42417930	Human		name
408389362	CV3529352	single nucleotide variant	NM_001257180.2(SLC20A2):c.1616A>G (p.Tyr539Cys)	not provided [RCV004774174]	uncertain significance	8	42430157	42430157	Human		name
596929187	CV3530997	single nucleotide variant	NM_001257180.2(SLC20A2):c.1304G>A (p.Ser435Asn)	not provided [RCV004779571]	uncertain significance	8	42437208	42437208	Human		name
596944817	CV3543509	single nucleotide variant	NM_001257180.2(SLC20A2):c.1756T>C (p.Ser586Pro)	not provided [RCV004801631]	likely pathogenic	8	42428796	42428796	Human		name
596947101	CV3547165	single nucleotide variant	NM_001257180.2(SLC20A2):c.1145G>A (p.Arg382Gln)	not provided [RCV004810973]	likely pathogenic	8	42437367	42437367	Human		name
597709494	CV3596424	single nucleotide variant	NM_001257180.2(SLC20A2):c.1888G>A (p.Val630Ile)	Inborn genetic diseases [RCV004957880]	uncertain significance	8	42417874	42417874	Human	1	name
597709510	CV3596428	single nucleotide variant	NM_001257180.2(SLC20A2):c.1340C>T (p.Ala447Val)	Inborn genetic diseases [RCV004957883]	uncertain significance	8	42437172	42437172	Human	1	name
597709671	CV3596429	single nucleotide variant	NM_001257180.2(SLC20A2):c.1037C>G (p.Thr346Ser)	Inborn genetic diseases [RCV004957884]	uncertain significance	8	42437475	42437475	Human	1	name
597709686	CV3596431	single nucleotide variant	NM_001257180.2(SLC20A2):c.1496C>G (p.Ser499Cys)	Inborn genetic diseases [RCV004957886]	uncertain significance	8	42437016	42437016	Human	1	name
597709692	CV3596433	single nucleotide variant	NM_001257180.2(SLC20A2):c.1362G>A (p.Met454Ile)	Inborn genetic diseases [RCV004957887]	uncertain significance	8	42437150	42437150	Human	1	name
597834087	CV3735753	single nucleotide variant	NM_001257180.2(SLC20A2):c.1677G>A (p.Met559Ile)	not provided [RCV005063616]	uncertain significance	8	42430096	42430096	Human		name
597906032	CV3785149	single nucleotide variant	NM_001257180.2(SLC20A2):c.1900G>A (p.Gly634Arg)	not provided [RCV005127992]	uncertain significance	8	42417862	42417862	Human		name
597960437	CV3811888	single nucleotide variant	NM_001257180.2(SLC20A2):c.1214C>T (p.Ala405Val)	not provided [RCV005163541]	uncertain significance	8	42437298	42437298	Human		name
597847891	CV3824064	single nucleotide variant	NM_001257180.2(SLC20A2):c.1795G>A (p.Val599Met)	not provided [RCV005173303]	uncertain significance	8	42417967	42417967	Human		name
597887977	CV3839146	single nucleotide variant	NM_001257180.2(SLC20A2):c.1848G>A (p.Trp616Ter)	not provided [RCV005179231]	pathogenic	8	42417914	42417914	Human		name
597831641	CV3863888	single nucleotide variant	NM_001257180.2(SLC20A2):c.1912G>A (p.Ala638Thr)	Idiopathic basal ganglia calcification 1 [RCV005420463]	uncertain significance	8	42417850	42417850	Human	1	name
8567925	CV38748	single nucleotide variant	NM_001257180.2(SLC20A2):c.1492G>A (p.Gly498Arg)	Idiopathic basal ganglia calcification 1 [RCV005419870]\|not provided [RCV004696639]	pathogenic\|likely pathogenic	8	42437020	42437020	Human	1	name
8602025	CV38749	single nucleotide variant	NM_001257180.2(SLC20A2):c.1802C>G (p.Ser601Trp)	Idiopathic basal ganglia calcification 1 [RCV005419871]	pathogenic\|likely benign	8	42417960	42417960	Human	1	name
8602026	CV38750	single nucleotide variant	NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu)	Idiopathic basal ganglia calcification 1 [RCV005419872]	pathogenic\|likely pathogenic\|likely benign	8	42417960	42417960	Human	1	name
8602027	CV38751	single nucleotide variant	NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys)	Idiopathic basal ganglia calcification 1 [RCV005419873]	pathogenic\|likely pathogenic	8	42428829	42428829	Human	1	name
8602028	CV38752	single nucleotide variant	NM_001257180.2(SLC20A2):c.1784C>T (p.Thr595Met)	Idiopathic basal ganglia calcification 1 [RCV005419874]\|not provided [RCV002513170]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	8	42428768	42428768	Human	1	name
598121766	CV3889789	single nucleotide variant	NM_001257180.2(SLC20A2):c.1220C>A (p.Ser407Ter)	Idiopathic basal ganglia calcification 1 [RCV005420464]	likely pathogenic	8	42437292	42437292	Human	1	name
598201102	CV3892743	single nucleotide variant	NM_001257180.2(SLC20A2):c.1361T>A (p.Met454Lys)	not provided [RCV005254576]	uncertain significance	8	42437151	42437151	Human		name
598269252	CV3921809	single nucleotide variant	NM_001257180.2(SLC20A2):c.1355T>G (p.Val452Gly)	Inborn genetic diseases [RCV005281929]	uncertain significance	8	42437157	42437157	Human	1	name
598269269	CV3921812	single nucleotide variant	NM_001257180.2(SLC20A2):c.1821G>C (p.Trp607Cys)	Inborn genetic diseases [RCV005281932]	uncertain significance	8	42417941	42417941	Human	1	name
12895060	CV407390	single nucleotide variant	NM_001257180.2(SLC20A2):c.1308C>G (p.Tyr436Ter)	not provided [RCV000485134]	likely pathogenic	8	42437204	42437204	Human		name
13509260	CV481818	single nucleotide variant	NM_001257180.2(SLC20A2):c.1604G>A (p.Trp535Ter)	Idiopathic basal ganglia calcification 1 [RCV005420212]\|not provided [RCV000579206]	pathogenic	8	42430169	42430169	Human	1	name
13528530	CV513426	single nucleotide variant	NM_001257180.2(SLC20A2):c.1723G>T (p.Glu575Ter)	Idiopathic basal ganglia calcification 1 [RCV005420220]	pathogenic	8	42428829	42428829	Human	1	name
13819843	CV575491	single nucleotide variant	NM_001257180.2(SLC20A2):c.1375G>T (p.Glu459Ter)	Idiopathic basal ganglia calcification 1 [RCV005420232]	pathogenic	8	42437137	42437137	Human	1	name
14395788	CV611699	single nucleotide variant	NM_001257180.2(SLC20A2):c.1399C>T (p.Arg467Ter)	Idiopathic basal ganglia calcification 1 [RCV005420234]\|not provided [RCV000760455]	pathogenic	8	42437113	42437113	Human	1	name
14695590	CV622730	single nucleotide variant	NM_001257180.2(SLC20A2):c.1196A>C (p.His399Pro)	Idiopathic basal ganglia calcification 1 [RCV005420242]	likely pathogenic	8	42437316	42437316	Human	1	name
15149734	CV723108	single nucleotide variant	NM_001257180.2(SLC20A2):c.1934T>A (p.Met645Lys)	Idiopathic basal ganglia calcification 1 [RCV005420252]\|not provided [RCV000879228]	benign	8	42417828	42417828	Human	1	name
15188457	CV736678	single nucleotide variant	NM_001257180.2(SLC20A2):c.1198G>A (p.Ala400Thr)	SLC20A2-related disorder [RCV004753107]\|not provided [RCV000909374]	benign\|likely benign	8	42437314	42437314	Human	1	name , trait , alternate_id
28906374	CV899613	single nucleotide variant	NM_001257180.2(SLC20A2):c.1849C>T (p.Arg617Cys)	Idiopathic basal ganglia calcification 1 [RCV005420350]\|not provided [RCV001882501]	likely benign\|uncertain significance	8	42417913	42417913	Human	1	name
28908802	CV899615	single nucleotide variant	NM_001257180.2(SLC20A2):c.1580C>T (p.Thr527Met)	Idiopathic basal ganglia calcification 1 [RCV005420353]\|Inborn genetic diseases [RCV002559534]\|not provided [RCV002032480]	benign\|likely benign\|uncertain significance	8	42430193	42430193	Human	2	name
28908803	CV899616	single nucleotide variant	NM_001257180.2(SLC20A2):c.1439C>T (p.Ala480Val)	Idiopathic basal ganglia calcification 1 [RCV005420354]\|Inborn genetic diseases [RCV003163349]\|not provided [RCV002032481]	uncertain significance	8	42437073	42437073	Human	2	name
28870735	CV899617	single nucleotide variant	NM_001257180.2(SLC20A2):c.1338G>C (p.Glu446Asp)	Idiopathic basal ganglia calcification 1 [RCV005420365]\|not provided [RCV002558572]	likely benign\|uncertain significance	8	42437174	42437174	Human	1	name
40887571	CV973671	single nucleotide variant	NM_001257180.2(SLC20A2):c.1067A>T (p.Asp356Val)	Inborn genetic diseases [RCV001267189]\|not provided [RCV004769982]\|not specified [RCV005236748]	uncertain significance	8	42437445	42437445	Human	1	name
150544936	CV1315338	deletion	NM_001257180.2(SLC20A2):c.165_169del (p.Glu55fs)	Idiopathic basal ganglia calcification 1 [RCV005420410]	likely pathogenic	8	42472222	42472226	Human	1	name
408384636	CV3504336	microsatellite	NM_001257180.2(SLC20A2):c.260_261del (p.Leu87fs)	SLC20A2-related disorder [RCV004731926]	pathogenic	8	42472130	42472131	Human		name , trait , alternate_id
156015122	CV2134122	duplication	NM_001257180.2(SLC20A2):c.617_618dup (p.Gly207fs)	not provided [RCV003017950]	pathogenic	8	42444757	42444758	Human		name
156065193	CV2175892	deletion	NM_001257180.2(SLC20A2):c.943_944del (p.Leu315fs)	not provided [RCV003053542]	pathogenic	8	42437568	42437569	Human		name
405233407	CV2981763	deletion	NM_001257180.2(SLC20A2):c.783_786del (p.Ser261fs)	not provided [RCV003711889]	pathogenic	8	42439598	42439601	Human		name
8630968	CV86124	deletion	NM_001257180.2(SLC20A2):c.583_584del (p.Val195fs)	Idiopathic basal ganglia calcification 1 [RCV005419877]\|not provided [RCV000793976]	pathogenic\|likely pathogenic	8	42459925	42459926	Human	1	name
243060607	CV2408607	microsatellite	NM_001257180.2(SLC20A2):c.1274AGA[1] (p.Lys426del)	Idiopathic basal ganglia calcification 1 [RCV005420439]	uncertain significance	8	42437233	42437235	Human		name
405188873	CV2987743	microsatellite	NM_001257180.2(SLC20A2):c.1426GAG[1] (p.Glu477del)	not provided [RCV003706279]	uncertain significance	8	42437081	42437083	Human		name
150337431	CV1165876	duplication	NM_001257180.2(SLC20A2):c.1440_1443dup (p.Glu482fs)	not provided [RCV001532619]	pathogenic	8	42437068	42437069	Human		name
155267814	CV1701379	microsatellite	NM_001257180.2(SLC20A2):c.1637_1638del (p.Thr546fs)	Idiopathic basal ganglia calcification 1 [RCV005420426]	pathogenic	8	42430135	42430136	Human		name
155799019	CV1862280	deletion	NM_001257180.2(SLC20A2):c.1438_1439del (p.Ala480fs)	Idiopathic basal ganglia calcification 1 [RCV005420434]	pathogenic	8	42437073	42437074	Human	1	name
156299094	CV2180671	deletion	NM_001257180.2(SLC20A2):c.1239_1242del (p.Ser413fs)	not provided [RCV003028004]	pathogenic	8	42437270	42437273	Human		name
14696194	CV622729	deletion	NM_001257180.2(SLC20A2):c.1520_1521del (p.Val507fs)	Idiopathic basal ganglia calcification 1 [RCV005420239]	likely pathogenic	8	42436991	42436992	Human	1	name
8630966	CV86122	deletion	NM_001257180.2(SLC20A2):c.1828_1831del (p.Ser610fs)	Idiopathic basal ganglia calcification 1 [RCV005419876]\|SLC20A2-related disorder [RCV004730869]	pathogenic	8	42417931	42417934	Human	1	name , trait , alternate_id
156446889	CV1948573	microsatellite	NM_001257180.2(SLC20A2):c.1419GGAGAAGGA[1] (p.473EEK[1])	not provided [RCV003118408]	uncertain significance	8	42437076	42437084	Human		name
11664853	CV264277	deletion	NM_001257180.2(SLC20A2):c.509del (p.Ile169_Leu170insTer)	Idiopathic basal ganglia calcification 1 [RCV005419947]\|SLC20A2-related disorder [RCV003409398]\|not provided [RCV000303018]	pathogenic	8	42463012	42463012	Human	1	name , trait , alternate_id
150431575	CV1243742	deletion	NM_001257180.2(SLC20A2):c.1822_1848del (p.Ile608_Trp616del)	not provided [RCV001663362]	likely pathogenic	8	42417914	42417940	Human		name
155803157	CV1857968	microsatellite	NM_001257180.2(SLC20A2):c.1419GGAGAAGGA[3] (p.Lys478_Asp479insGluGluLys)	not provided [RCV002461818]	uncertain significance	8	42437075	42437076	Human		name
156277937	CV2053689	insertion	NM_001257180.2(SLC20A2):c.516+9_516+10insAAAAAAGGTAAGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	not provided [RCV002806891]	uncertain significance	8	42462995	42462996	Human		name

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