Slc39a8 Variant Search Result - Rat Genome Database

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213 records found for search term Slc39a8

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150513623	CV1211334	single nucleotide variant	NM_001135146.2(SLC39A8):c.-7G>A	not provided [RCV001598522]	likely benign	4	102344669	102344669	Human		name
150451442	CV1232801	single nucleotide variant	NM_001135147.1(SLC39A8):c.*88T>C	not provided [RCV001647876]	benign	4	102253334	102253334	Human		name
150339684	CV1167302	single nucleotide variant	NM_001135146.2(SLC39A8):c.*112T>C	not provided [RCV001534459]	benign	4	102262932	102262932	Human		name
150517054	CV1227791	single nucleotide variant	NM_001135147.1(SLC39A8):c.*270G>A	not provided [RCV001639594]	benign	4	102253152	102253152	Human		name
150462624	CV1234939	duplication	NM_001135147.1(SLC39A8):c.*262dup	not provided [RCV001649521]	benign	4	102253159	102253160	Human		name
150499755	CV1235785	single nucleotide variant	NM_001135147.1(SLC39A8):c.*258G>A	not provided [RCV001656468]	benign	4	102253164	102253164	Human		name
150451221	CV1261517	single nucleotide variant	NM_001135146.2(SLC39A8):c.*137G>A	not provided [RCV001680719]	benign	4	102262907	102262907	Human		name
150485565	CV1262118	single nucleotide variant	NM_001135147.1(SLC39A8):c.*154A>G	not provided [RCV001686809]	benign	4	102253268	102253268	Human		name
150441112	CV1265508	single nucleotide variant	NM_001135146.2(SLC39A8):c.*266A>G	not provided [RCV001679211]	benign	4	102262778	102262778	Human		name
150544231	CV1295917	single nucleotide variant	NM_001135146.2(SLC39A8):c.383-2A>G	not provided [RCV001772426]	uncertain significance	4	102307607	102307607	Human		name
150534336	CV1299317	single nucleotide variant	NM_001135146.2(SLC39A8):c.840+2T>C	not provided [RCV001757010]	uncertain significance	4	102304315	102304315	Human		name
151716072	CV1472731	single nucleotide variant	NM_001135146.2(SLC39A8):c.552+7A>T	not provided [RCV002039354]	likely benign\|uncertain significance	4	102307429	102307429	Human		name
156207575	CV1932101	single nucleotide variant	NM_001135146.2(SLC39A8):c.676-9C>G	not provided [RCV002643867]	likely benign	4	102304490	102304490	Human		name
155925092	CV1987738	single nucleotide variant	NM_001135146.2(SLC39A8):c.841-9T>G	not provided [RCV002614732]	benign	4	102268088	102268088	Human		name
155946748	CV2139499	single nucleotide variant	NM_001135146.2(SLC39A8):c.552+1G>A	not provided [RCV002994389]	uncertain significance	4	102307435	102307435	Human		name
156333064	CV2214539	single nucleotide variant	NM_001135146.2(SLC39A8):c.676-4A>G	Inborn genetic diseases [RCV002673553]\|SLC39A8-related disorder [RCV003946356]\|not provided [RCV003730262]	likely benign\|uncertain significance	4	102304485	102304485	Human	2	name , trait , alternate_id
156085917	CV2244653	single nucleotide variant	NM_001135146.2(SLC39A8):c.552+6G>T	Inborn genetic diseases [RCV002738185]\|not provided [RCV003730277]	uncertain significance	4	102307430	102307430	Human	1	name
243060650	CV2408650	single nucleotide variant	NM_001135146.2(SLC39A8):c.*1062C>T	SLC39A8-CDG [RCV003136780]	uncertain significance	4	102261982	102261982	Human	1	name , trait , alternate_id
401914245	CV2830639	single nucleotide variant	NM_001135146.2(SLC39A8):c.382+2T>C	not provided [RCV003442377]	uncertain significance	4	102315666	102315666	Human		name
408391235	CV3527933	single nucleotide variant	NM_001135146.2(SLC39A8):c.220-1G>T	not provided [RCV004775205]	uncertain significance	4	102315831	102315831	Human		name
596942150	CV3543997	single nucleotide variant	NM_001135146.2(SLC39A8):c.840+4T>C	not specified [RCV004799987]	uncertain significance	4	102304313	102304313	Human		name
597911500	CV3816942	single nucleotide variant	NM_001135146.2(SLC39A8):c.676-7C>T	not provided [RCV005154339]	likely benign	4	102304488	102304488	Human		name
150503269	CV1212443	duplication	NM_001135146.2(SLC39A8):c.220-26dup	not provided [RCV001595318]	benign	4	102315846	102315847	Human		name
150461871	CV1231531	single nucleotide variant	NM_001135146.2(SLC39A8):c.383-68G>A	not provided [RCV001641098]	benign	4	102307673	102307673	Human	3	name
150464792	CV1252769	single nucleotide variant	NM_001135146.2(SLC39A8):c.676-66A>G	not provided [RCV001670093]	benign	4	102304547	102304547	Human		name
150501985	CV1255167	single nucleotide variant	NM_001135146.2(SLC39A8):c.219+70G>C	not provided [RCV001677086]	benign	4	102344374	102344374	Human		name
150468528	CV1259510	single nucleotide variant	NM_001135146.2(SLC39A8):c.552+48C>T	SLC39A8-CDG [RCV001810228]\|not provided [RCV001683810]	benign	4	102307388	102307388	Human	1	name , trait , alternate_id
152127956	CV1596473	deletion	NM_001135146.2(SLC39A8):c.220-17del	not provided [RCV002118700]	benign	4	102315847	102315847	Human		name
156383920	CV1975550	single nucleotide variant	NM_001135146.2(SLC39A8):c.676-18G>T	not provided [RCV002604164]	likely benign	4	102304499	102304499	Human		name
156378569	CV2001328	single nucleotide variant	NM_001135146.2(SLC39A8):c.219+13G>A	not provided [RCV002653489]	likely benign	4	102344431	102344431	Human		name
155914137	CV2021899	single nucleotide variant	NM_001135146.2(SLC39A8):c.1048+3A>T	not provided [RCV002727020]	uncertain significance	4	102267869	102267869	Human		name
156072917	CV2029027	single nucleotide variant	NM_001135146.2(SLC39A8):c.219+18G>C	not provided [RCV002760376]	likely benign	4	102344426	102344426	Human		name
156139788	CV2044421	single nucleotide variant	NM_001135146.2(SLC39A8):c.219+17C>A	not provided [RCV002800907]	benign	4	102344427	102344427	Human		name
155985388	CV2159655	single nucleotide variant	NM_001135146.2(SLC39A8):c.219+17C>T	not provided [RCV003034070]	likely benign	4	102344427	102344427	Human		name
405245340	CV2968956	single nucleotide variant	NM_001135146.2(SLC39A8):c.841-13G>T	not provided [RCV003685042]	likely benign	4	102268092	102268092	Human		name
405277825	CV3213056	single nucleotide variant	NM_001135147.1(SLC39A8):c.1267-4G>C	SLC39A8-related disorder [RCV003957150]	likely benign	4	102259518	102259518	Human		name , trait , alternate_id
596938503	CV3549579	single nucleotide variant	NM_001135146.2(SLC39A8):c.1234-2A>C	not provided [RCV004812619]	uncertain significance	4	102263195	102263195	Human		name
597915177	CV3817635	single nucleotide variant	NM_001135146.2(SLC39A8):c.220-12A>G	not provided [RCV005154837]	likely benign	4	102315842	102315842	Human		name
15120736	CV759261	single nucleotide variant	NM_001135146.2(SLC39A8):c.1049-6T>C	not provided [RCV000918369]	likely benign	4	102267680	102267680	Human		name
150414964	CV1176405	single nucleotide variant	NM_001135147.1(SLC39A8):c.1327-66A>C	not provided [RCV001548367]	likely benign	4	102253496	102253496	Human		name
150423584	CV1183409	deletion	NM_001135146.2(SLC39A8):c.220-196del	not provided [RCV001555522]	likely benign	4	102316026	102316026	Human		name
150427069	CV1186677	duplication	NM_001135146.2(SLC39A8):c.1049-44dup	not provided [RCV001560433]	likely benign	4	102267708	102267709	Human		name
150410879	CV1190114	single nucleotide variant	NM_001135146.2(SLC39A8):c.-254+22C>T	not provided [RCV001566280]	likely benign	4	102345323	102345323	Human		name
150490261	CV1208583	single nucleotide variant	NM_001135146.2(SLC39A8):c.841-201G>A	not provided [RCV001592444]	likely benign	4	102268280	102268280	Human		name
150468379	CV1218905	single nucleotide variant	NM_001135146.2(SLC39A8):c.840+219T>G	not provided [RCV001614657]	benign	4	102304098	102304098	Human		name
150456656	CV1219516	single nucleotide variant	NM_001135146.2(SLC39A8):c.383-214C>T	not provided [RCV001612731]	benign	4	102307819	102307819	Human		name
150502704	CV1223285	single nucleotide variant	NM_001135146.2(SLC39A8):c.219+258T>G	not provided [RCV001621219]	benign	4	102344186	102344186	Human		name
150514224	CV1228116	single nucleotide variant	NM_001135146.2(SLC39A8):c.552+236C>G	not provided [RCV001638394]	benign	4	102307200	102307200	Human		name
150431405	CV1243685	duplication	NM_001135146.2(SLC39A8):c.675+200dup	not provided [RCV001663305]	benign	4	102304784	102304785	Human		name
150437535	CV1249885	single nucleotide variant	NM_001135146.2(SLC39A8):c.675+199A>T	not provided [RCV001665799]	benign	4	102304790	102304790	Human	1	name
150471913	CV1252160	single nucleotide variant	NM_001135146.2(SLC39A8):c.675+157T>C	not provided [RCV001671361]	benign	4	102304832	102304832	Human		name
150452816	CV1255014	single nucleotide variant	NM_001135146.2(SLC39A8):c.841-180C>T	not provided [RCV001668073]	benign	4	102268259	102268259	Human		name
150467679	CV1255946	single nucleotide variant	NM_001135146.2(SLC39A8):c.841-186G>T	not provided [RCV001670580]	benign	4	102268265	102268265	Human		name
150469299	CV1268074	single nucleotide variant	NM_001135146.2(SLC39A8):c.841-109T>C	not provided [RCV001694937]	benign	4	102268188	102268188	Human		name
150471282	CV1280946	duplication	NM_001135146.2(SLC39A8):c.220-206dup	not provided [RCV001713155]	benign	4	102316025	102316026	Human		name
152123568	CV1579229	single nucleotide variant	NM_001135146.2(SLC39A8):c.1234-11C>G	not provided [RCV002154569]	likely benign	4	102263204	102263204	Human		name
156257976	CV1906354	single nucleotide variant	NM_001135146.2(SLC39A8):c.1049-10C>A	not provided [RCV003086339]	likely benign	4	102267684	102267684	Human		name
156408355	CV1957810	single nucleotide variant	NM_001135146.2(SLC39A8):c.1049-13C>T	not provided [RCV002586492]	likely benign	4	102267687	102267687	Human		name
156415376	CV1958345	single nucleotide variant	NM_001135146.2(SLC39A8):c.1234-18A>G	not provided [RCV002589132]	likely benign	4	102263211	102263211	Human		name
156246711	CV1969573	single nucleotide variant	NM_001135146.2(SLC39A8):c.1049-12T>A	not provided [RCV002597333]	likely benign	4	102267686	102267686	Human		name
156381631	CV1978807	single nucleotide variant	NM_001135146.2(SLC39A8):c.1233+15A>G	not provided [RCV002604005]	likely benign	4	102267475	102267475	Human		name
597936350	CV3764831	single nucleotide variant	NM_001135146.2(SLC39A8):c.1233+16T>C	not provided [RCV005117530]	likely benign	4	102267474	102267474	Human		name
150340177	CV1168005	single nucleotide variant	NM_001135147.1(SLC39A8):c.1267-204G>A	not provided [RCV001535075]	benign	4	102259718	102259718	Human		name
150419701	CV1179773	single nucleotide variant	NM_001135146.2(SLC39A8):c.1233+153A>G	not provided [RCV001551184]	likely benign	4	102267337	102267337	Human		name
150462262	CV1214619	single nucleotide variant	NM_001135146.2(SLC39A8):c.1234-302C>G	not provided [RCV001613612]	benign	4	102263495	102263495	Human		name
150474115	CV1217745	single nucleotide variant	NM_001135146.2(SLC39A8):c.-253-107T>G	not provided [RCV001615756]	benign	4	102345022	102345022	Human		name
150514518	CV1228543	single nucleotide variant	NM_001135147.1(SLC39A8):c.1327-232C>T	not provided [RCV001638530]	benign	4	102253662	102253662	Human		name
150435518	CV1233874	deletion	NM_001135146.2(SLC39A8):c.1233+230del	not provided [RCV001644001]	benign	4	102267260	102267260	Human		name
150497353	CV1271714	single nucleotide variant	NM_001135147.1(SLC39A8):c.1327-141A>G	not provided [RCV001689015]	benign	4	102253571	102253571	Human		name
150463989	CV1273231	single nucleotide variant	NM_001135146.2(SLC39A8):c.1234-240A>G	not provided [RCV001693988]	benign	4	102263433	102263433	Human		name
150536463	CV1293085	single nucleotide variant	NM_001135146.2(SLC39A8):c.1234-264G>A	not provided [RCV001762871]	benign	4	102263457	102263457	Human		name
155267889	CV1705195	single nucleotide variant	NM_001135146.2(SLC39A8):c.1233+169C>T	not provided [RCV002285800]	likely benign	4	102267321	102267321	Human		name
156108077	CV1996819	microsatellite	NM_001135146.2(SLC39A8):c.1049-17TCT[7]	not provided [RCV002662377]	likely benign	4	102267676	102267677	Human		name
405274024	CV3194987	microsatellite	NM_001135146.2(SLC39A8):c.1049-17TCT[6]	SLC39A8-related disorder [RCV003902229]	likely benign	4	102267676	102267677	Human		name , trait , alternate_id
14708878	CV660150	microsatellite	NM_001135146.2(SLC39A8):c.1049-17TCT[4]	not provided [RCV000831389]	benign	4	102267677	102267679	Human		name
155797718	CV1860448	deletion	NM_001135146.2(SLC39A8):c.382+1_382+12del	not provided [RCV002467090]	uncertain significance	4	102315656	102315667	Human		name
150419296	CV1197157	deletion	NM_001135146.2(SLC39A8):c.19del (p.Val7fs)	not provided [RCV001577110]	uncertain significance	4	102344644	102344644	Human		name
156237651	CV1952859	single nucleotide variant	NM_001135146.2(SLC39A8):c.48C>T (p.Ala16=)	not provided [RCV002576110]	likely benign	4	102344615	102344615	Human		name
156202381	CV2004236	single nucleotide variant	NM_001135146.2(SLC39A8):c.87C>T (p.Phe29=)	not provided [RCV002666539]	likely benign	4	102344576	102344576	Human		name
156299354	CV2069827	single nucleotide variant	NM_001135146.2(SLC39A8):c.69G>A (p.Glu23=)	not provided [RCV002833547]	likely benign	4	102344594	102344594	Human		name
156233071	CV2108486	single nucleotide variant	NM_001135146.2(SLC39A8):c.8C>T (p.Pro3Leu)	not provided [RCV002919010]	uncertain significance	4	102344655	102344655	Human		name
156095940	CV2139646	single nucleotide variant	NM_001135146.2(SLC39A8):c.78G>A (p.Gly26=)	not provided [RCV002979791]	likely benign	4	102344585	102344585	Human		name
155919374	CV2202528	single nucleotide variant	NM_001135146.2(SLC39A8):c.7C>T (p.Pro3Ser)	Inborn genetic diseases [RCV002682623]	uncertain significance	4	102344656	102344656	Human	1	name
405135677	CV3133951	single nucleotide variant	NM_001135146.2(SLC39A8):c.54C>G (p.Leu18=)	not provided [RCV003838730]	likely benign	4	102344609	102344609	Human		name
405148298	CV3141942	single nucleotide variant	NM_001135146.2(SLC39A8):c.99G>A (p.Val33=)	not provided [RCV003839864]	likely benign	4	102344564	102344564	Human		name
15104319	CV720685	single nucleotide variant	NM_001135146.2(SLC39A8):c.81A>C (p.Leu27=)	SLC39A8-related disorder [RCV003920789]\|not provided [RCV000892859]	benign\|likely benign	4	102344582	102344582	Human	1	name , trait , alternate_id
156246308	CV2105655	single nucleotide variant	NM_001135146.2(SLC39A8):c.10G>C (p.Gly4Arg)	Inborn genetic diseases [RCV005281260]\|not provided [RCV002933384]	likely benign\|uncertain significance	4	102344653	102344653	Human	1	name
597877120	CV3860218	single nucleotide variant	NM_001135146.2(SLC39A8):c.297C>G (p.Val99=)	not provided [RCV005198427]	likely benign	4	102315753	102315753	Human		name
15138186	CV781840	single nucleotide variant	NM_001135146.2(SLC39A8):c.228T>C (p.Thr76=)	not provided [RCV000982430]	likely benign	4	102315822	102315822	Human		name
150336511	CV1164915	duplication	NM_001135146.2(SLC39A8):c.1049-44_1049-43dup	not provided [RCV001530876]	benign	4	102267708	102267709	Human		name
150450507	CV1200340	duplication	NM_001135146.2(SLC39A8):c.218dup (p.Cys74fs)	SLC39A8-CDG [RCV001580614]	pathogenic	4	102344444	102344445	Human	1	name , trait , alternate_id
150457121	CV1235295	single nucleotide variant	NM_001135146.2(SLC39A8):c.411G>A (p.Thr137=)	not provided [RCV001648711]	benign	4	102307577	102307577	Human		name
150500685	CV1238227	single nucleotide variant	NM_001135146.2(SLC39A8):c.801A>G (p.Gly267=)	not provided [RCV001656657]	benign	4	102304356	102304356	Human		name
156331395	CV1954124	single nucleotide variant	NM_001135146.2(SLC39A8):c.960G>C (p.Leu320=)	not provided [RCV002580020]	likely benign	4	102267960	102267960	Human		name
155914694	CV2033215	single nucleotide variant	NM_001135146.2(SLC39A8):c.783T>A (p.Ala261=)	not provided [RCV002750396]	likely benign	4	102304374	102304374	Human		name
156032975	CV2037058	single nucleotide variant	NM_001135146.2(SLC39A8):c.930C>T (p.Cys310=)	not provided [RCV002781187]	likely benign	4	102267990	102267990	Human		name
156161757	CV2074344	single nucleotide variant	NM_001135146.2(SLC39A8):c.82G>A (p.Ala28Thr)	not provided [RCV002851236]	uncertain significance	4	102344581	102344581	Human		name
156222892	CV2121659	deletion	NM_001135146.2(SLC39A8):c.167del (p.Gly56fs)	not provided [RCV002958215]	uncertain significance	4	102344496	102344496	Human		name
155943372	CV2130039	single nucleotide variant	NM_001135146.2(SLC39A8):c.77G>A (p.Gly26Glu)	not provided [RCV002971436]	uncertain significance	4	102344586	102344586	Human		name
155968767	CV2139601	single nucleotide variant	NM_001135146.2(SLC39A8):c.59G>C (p.Gly20Ala)	Inborn genetic diseases [RCV002979779]\|not provided [RCV002995520]	likely benign\|uncertain significance	4	102344604	102344604	Human	1	name
155942812	CV215659	single nucleotide variant	NM_001135146.2(SLC39A8):c.97G>A (p.Val33Met)	SLC39A8-CDG [RCV005396827]\|not provided [RCV002518400]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	102344566	102344566	Human	1	name , trait , alternate_id
156214109	CV2171108	single nucleotide variant	NM_001135146.2(SLC39A8):c.69G>C (p.Glu23Asp)	not provided [RCV003042447]	uncertain significance	4	102344594	102344594	Human		name
156073870	CV2201438	single nucleotide variant	NM_001135146.2(SLC39A8):c.70G>T (p.Gly24Trp)	Inborn genetic diseases [RCV002660395]	uncertain significance	4	102344593	102344593	Human	1	name
405177046	CV3049517	single nucleotide variant	NM_001135146.2(SLC39A8):c.88A>G (p.Ser30Gly)	not provided [RCV003728433]	uncertain significance	4	102344575	102344575	Human		name
405208747	CV3065506	single nucleotide variant	NM_001135146.2(SLC39A8):c.963G>A (p.Ala321=)	not provided [RCV003731687]	likely benign	4	102267957	102267957	Human		name
405055756	CV3138576	single nucleotide variant	NM_001135146.2(SLC39A8):c.322T>C (p.Leu108=)	not provided [RCV003832421]	likely benign	4	102315728	102315728	Human		name
405052997	CV3151295	single nucleotide variant	NM_001135146.2(SLC39A8):c.309A>T (p.Ala103=)	not provided [RCV003849704]	likely benign	4	102315741	102315741	Human		name
405235618	CV3168552	single nucleotide variant	NM_001135146.2(SLC39A8):c.660A>G (p.Leu220=)	not provided [RCV003866026]	likely benign	4	102305004	102305004	Human		name
405265614	CV3215594	single nucleotide variant	NM_001135146.2(SLC39A8):c.951C>T (p.Ile317=)	SLC39A8-related disorder [RCV003946781]	likely benign	4	102267969	102267969	Human		name , trait , alternate_id
407573907	CV3498256	single nucleotide variant	NM_001135146.2(SLC39A8):c.513G>T (p.Gly171=)	not specified [RCV004702730]	likely benign	4	102307475	102307475	Human		name
597944369	CV3776577	single nucleotide variant	NM_001135146.2(SLC39A8):c.978C>T (p.Cys326=)	not provided [RCV005119433]	likely benign	4	102267942	102267942	Human		name
597960617	CV3840266	single nucleotide variant	NM_001135146.2(SLC39A8):c.846A>G (p.Gly282=)	not provided [RCV005192749]	likely benign	4	102268074	102268074	Human		name
15196632	CV748600	single nucleotide variant	NM_001135146.2(SLC39A8):c.627T>G (p.Leu209=)	not provided [RCV000911750]	likely benign	4	102305037	102305037	Human		name
15129877	CV748601	single nucleotide variant	NM_001135146.2(SLC39A8):c.477A>G (p.Pro159=)	SLC39A8-related disorder [RCV003942832]\|not provided [RCV000919906]	likely benign	4	102307511	102307511	Human	1	name , trait , alternate_id
150331818	CV1171182	deletion	NM_001135146.2(SLC39A8):c.966del (p.Ile322fs)	not provided [RCV001538788]	uncertain significance	4	102267954	102267954	Human		name
150430144	CV1232019	single nucleotide variant	NM_001135146.2(SLC39A8):c.1041C>T (p.His347=)	not provided [RCV001641281]	benign	4	102267879	102267879	Human		name
150534114	CV1292926	duplication	NM_001135146.2(SLC39A8):c.446dup (p.Leu149fs)	not provided [RCV001756319]	uncertain significance	4	102307541	102307542	Human		name
150536209	CV1296073	single nucleotide variant	NM_001135146.2(SLC39A8):c.157G>T (p.Glu53Ter)	not provided [RCV001760542]	uncertain significance	4	102344506	102344506	Human		name
151718515	CV1469353	single nucleotide variant	NM_001135146.2(SLC39A8):c.131C>A (p.Ser44Ter)	not provided [RCV002039709]	uncertain significance	4	102344532	102344532	Human		name
155675497	CV1771704	single nucleotide variant	NM_001135146.2(SLC39A8):c.274A>C (p.Ile92Leu)	not provided [RCV002297753]	uncertain significance	4	102315776	102315776	Human		name
155798806	CV1862167	deletion	NM_001135146.2(SLC39A8):c.16_28del (p.Ala6fs)	SLC39A8-CDG [RCV002471570]	uncertain significance	4	102344635	102344647	Human	1	name , trait , alternate_id
156336519	CV1976867	single nucleotide variant	NM_001135146.2(SLC39A8):c.133G>T (p.Ala45Ser)	not provided [RCV002601061]	uncertain significance	4	102344530	102344530	Human		name
156393334	CV1983395	single nucleotide variant	NM_001135146.2(SLC39A8):c.1191A>G (p.Ala397=)	not provided [RCV002604883]	likely benign	4	102267532	102267532	Human		name
155993249	CV2063867	single nucleotide variant	NM_001135146.2(SLC39A8):c.1287T>C (p.Asp429=)	not provided [RCV002843057]	likely benign	4	102263140	102263140	Human		name
155986150	CV2070398	single nucleotide variant	NM_001135146.2(SLC39A8):c.1380G>A (p.Glu460=)	not provided [RCV002842748]	likely benign	4	102263047	102263047	Human		name
156153396	CV2121663	single nucleotide variant	NM_001135146.2(SLC39A8):c.165G>T (p.Met55Ile)	not provided [RCV002928978]	uncertain significance	4	102344498	102344498	Human		name
155964411	CV2141041	single nucleotide variant	NM_001135146.2(SLC39A8):c.1131T>C (p.Tyr377=)	not provided [RCV003015626]	likely benign	4	102267592	102267592	Human		name
10450090	CV215655	single nucleotide variant	NM_001135146.2(SLC39A8):c.112G>C (p.Gly38Arg)	SLC39A8-CDG [RCV000203234]\|not provided [RCV001386978]	pathogenic\|likely pathogenic	4	102344551	102344551	Human	1	name , trait , alternate_id
156016588	CV2266424	single nucleotide variant	NM_001135146.2(SLC39A8):c.153G>C (p.Leu51Phe)	Inborn genetic diseases [RCV002844237]	uncertain significance	4	102344510	102344510	Human	1	name
156120800	CV2354200	single nucleotide variant	NM_001135146.2(SLC39A8):c.137C>T (p.Ala46Val)	Inborn genetic diseases [RCV002981217]\|not provided [RCV005099004]	uncertain significance	4	102344526	102344526	Human	1	name
155918427	CV2362602	single nucleotide variant	NM_001135146.2(SLC39A8):c.272A>T (p.Gln91Leu)	Inborn genetic diseases [RCV003012939]	uncertain significance	4	102315778	102315778	Human	1	name
405194590	CV3062846	single nucleotide variant	NM_001135146.2(SLC39A8):c.190C>T (p.Pro64Ser)	not provided [RCV003730052]	benign	4	102344473	102344473	Human		name
405204340	CV3165528	single nucleotide variant	NM_001135146.2(SLC39A8):c.1071T>C (p.Asn357=)	not provided [RCV003861194]	likely benign	4	102267652	102267652	Human		name
405237483	CV3166894	single nucleotide variant	NM_001135146.2(SLC39A8):c.1359T>C (p.Tyr453=)	not provided [RCV003854148]	likely benign	4	102263068	102263068	Human		name
407427533	CV3411930	deletion	NM_001135146.2(SLC39A8):c.495del (p.Phe165fs)	not provided [RCV004592101]	uncertain significance	4	102307493	102307493	Human		name
407573896	CV3498245	single nucleotide variant	NM_001135146.2(SLC39A8):c.227C>T (p.Thr76Ile)	not specified [RCV004702719]	uncertain significance	4	102315823	102315823	Human		name
408386578	CV3524081	deletion	NM_001135146.2(SLC39A8):c.863del (p.Ser288fs)	not provided [RCV004767955]	uncertain significance	4	102268057	102268057	Human		name
597627079	CV3600041	single nucleotide variant	NM_001135146.2(SLC39A8):c.149A>G (p.His50Arg)	Inborn genetic diseases [RCV004966335]	likely benign	4	102344514	102344514	Human	1	name
597627086	CV3600044	single nucleotide variant	NM_001135146.2(SLC39A8):c.113G>T (p.Gly38Val)	Inborn genetic diseases [RCV004966338]	uncertain significance	4	102344550	102344550	Human	1	name
597846426	CV3736603	single nucleotide variant	NM_001135146.2(SLC39A8):c.1284C>T (p.Thr428=)	not provided [RCV005065762]	likely benign	4	102263143	102263143	Human		name
597861101	CV3813484	single nucleotide variant	NM_001135146.2(SLC39A8):c.1101A>G (p.Leu367=)	not provided [RCV005146746]	likely benign	4	102267622	102267622	Human		name
12893314	CV406377	duplication	NM_001135146.2(SLC39A8):c.523dup (p.Ser175fs)	not provided [RCV000478582]	likely pathogenic\|uncertain significance	4	102307464	102307465	Human		name
12906384	CV414952	deletion	NM_001135146.2(SLC39A8):c.357del (p.His119fs)	not provided [RCV000489149]	uncertain significance	4	102315693	102315693	Human		name
15142381	CV734350	single nucleotide variant	NM_001135146.2(SLC39A8):c.1170C>T (p.Phe390=)	not provided [RCV000899665]	likely benign	4	102267553	102267553	Human		name
15106978	CV748599	single nucleotide variant	NM_001135146.2(SLC39A8):c.1371C>T (p.Ile457=)	not provided [RCV000915862]	likely benign	4	102263056	102263056	Human		name
126738229	CV1000423	single nucleotide variant	NM_001135146.2(SLC39A8):c.965T>C (p.Ile322Thr)	Inborn genetic diseases [RCV004968006]\|SLC39A8-CDG [RCV002246293]\|not provided [RCV001312045]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	4	102267955	102267955	Human	2	name , trait , alternate_id
126727495	CV1016340	single nucleotide variant	NM_001135146.2(SLC39A8):c.923C>T (p.Thr308Met)	SLC39A8-CDG [RCV001332456]	uncertain significance	4	102267997	102267997	Human	1	name , trait , alternate_id
126727492	CV1016341	single nucleotide variant	NM_001135146.2(SLC39A8):c.316C>T (p.Gln106Ter)	SLC39A8-CDG [RCV001332455]	likely pathogenic	4	102315734	102315734	Human	1	name , trait , alternate_id
150539071	CV1295064	single nucleotide variant	NM_001135146.2(SLC39A8):c.611G>T (p.Gly204Val)	not provided [RCV001765025]	likely pathogenic\|uncertain significance	4	102305053	102305053	Human		name
151719635	CV1491357	single nucleotide variant	NM_001135146.2(SLC39A8):c.841G>A (p.Asp281Asn)	not provided [RCV002003464]	uncertain significance	4	102268079	102268079	Human		name
152035729	CV1670193	single nucleotide variant	NM_001135146.2(SLC39A8):c.931G>A (p.Asp311Asn)	not provided [RCV002223727]	uncertain significance	4	102267989	102267989	Human		name
152977829	CV1671183	single nucleotide variant	NM_001135146.2(SLC39A8):c.500G>C (p.Gly167Ala)	SLC39A8-CDG [RCV002226857]	uncertain significance	4	102307488	102307488	Human	1	name , trait , alternate_id
152999646	CV1683220	single nucleotide variant	NM_001135146.2(SLC39A8):c.410C>T (p.Thr137Met)	See cases [RCV002252404]	uncertain significance	4	102307578	102307578	Human		name
156207713	CV2000741	single nucleotide variant	NM_001135146.2(SLC39A8):c.360A>C (p.Lys120Asn)	not provided [RCV002666728]	uncertain significance	4	102315690	102315690	Human		name
156215077	CV2015189	single nucleotide variant	NM_001135146.2(SLC39A8):c.751A>G (p.Ile251Val)	not provided [RCV002700780]	uncertain significance	4	102304406	102304406	Human		name
156284954	CV2050128	single nucleotide variant	NM_001135146.2(SLC39A8):c.521T>C (p.Phe174Ser)	not provided [RCV002807119]	uncertain significance	4	102307467	102307467	Human		name
155940723	CV2068106	microsatellite	NM_001135146.2(SLC39A8):c.98_99del (p.Val33fs)	not provided [RCV002839388]	uncertain significance	4	102344564	102344565	Human		name
156297138	CV2119296	single nucleotide variant	NM_001135146.2(SLC39A8):c.824G>T (p.Ser275Ile)	Inborn genetic diseases [RCV004966231]\|not provided [RCV002961972]	uncertain significance	4	102304333	102304333	Human	1	name
156244466	CV2126289	single nucleotide variant	NM_001135146.2(SLC39A8):c.532A>C (p.Ile178Leu)	not provided [RCV002958987]	uncertain significance	4	102307456	102307456	Human		name
10450099	CV215657	single nucleotide variant	NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys)	SLC39A8-CDG [RCV000203248]\|not provided [RCV000733882]\|not specified [RCV003226248]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	4	102305054	102305054	Human	1	name , trait , alternate_id
156242765	CV2173479	single nucleotide variant	NM_001135146.2(SLC39A8):c.389G>T (p.Gly130Val)	not provided [RCV003043504]	uncertain significance	4	102307599	102307599	Human		name
155961050	CV2249580	single nucleotide variant	NM_001135146.2(SLC39A8):c.758G>T (p.Gly253Val)	Inborn genetic diseases [RCV002816833]	uncertain significance	4	102304399	102304399	Human	1	name
156121388	CV2354249	single nucleotide variant	NM_001135146.2(SLC39A8):c.842A>G (p.Asp281Gly)	Inborn genetic diseases [RCV002981254]	uncertain significance	4	102268078	102268078	Human	1	name
155964334	CV2395828	single nucleotide variant	NM_001135146.2(SLC39A8):c.571A>G (p.Lys191Glu)	Inborn genetic diseases [RCV002754306]\|not provided [RCV005099200]	uncertain significance	4	102305093	102305093	Human	1	name
329357942	CV2453821	single nucleotide variant	NM_001135146.2(SLC39A8):c.689A>G (p.His230Arg)	Inborn genetic diseases [RCV003203865]	uncertain significance	4	102304468	102304468	Human	1	name
401728809	CV2673054	single nucleotide variant	NM_001135146.2(SLC39A8):c.463A>C (p.Lys155Gln)	Inborn genetic diseases [RCV003247596]	uncertain significance	4	102307525	102307525	Human	1	name
401742624	CV2677639	single nucleotide variant	NM_001135146.2(SLC39A8):c.872G>C (p.Cys291Ser)	Inborn genetic diseases [RCV003241169]	uncertain significance	4	102268048	102268048	Human	1	name
401776149	CV2706902	single nucleotide variant	NM_001135146.2(SLC39A8):c.716A>G (p.Gln239Arg)	Inborn genetic diseases [RCV003263134]	likely benign	4	102304441	102304441	Human	1	name
401830311	CV2748013	single nucleotide variant	NM_001135146.2(SLC39A8):c.524C>G (p.Ser175Ter)	not provided [RCV003329620]	uncertain significance	4	102307464	102307464	Human		name
401861591	CV2756363	single nucleotide variant	NM_001135146.2(SLC39A8):c.346C>T (p.Arg116Trp)	Inborn genetic diseases [RCV003342704]	likely benign	4	102315704	102315704	Human	1	name
405709760	CV3329215	single nucleotide variant	NM_001135146.2(SLC39A8):c.880G>A (p.Gly294Arg)	Inborn genetic diseases [RCV004461604]	uncertain significance	4	102268040	102268040	Human	1	name
407427940	CV3412238	single nucleotide variant	NM_001135146.2(SLC39A8):c.876G>C (p.Leu292Phe)	not provided [RCV004592409]	uncertain significance	4	102268044	102268044	Human		name
407451721	CV3484619	single nucleotide variant	NM_001135146.2(SLC39A8):c.814G>C (p.Asp272His)	Inborn genetic diseases [RCV004683747]	uncertain significance	4	102304343	102304343	Human	1	name
407514808	CV3484622	single nucleotide variant	NM_001135146.2(SLC39A8):c.902G>A (p.Gly301Glu)	Inborn genetic diseases [RCV004674707]	uncertain significance	4	102268018	102268018	Human	1	name
408386577	CV3524080	single nucleotide variant	NM_001135146.2(SLC39A8):c.781G>A (p.Ala261Thr)	not provided [RCV004767954]	uncertain significance	4	102304376	102304376	Human		name
597627083	CV3600043	single nucleotide variant	NM_001135146.2(SLC39A8):c.947T>G (p.Phe316Cys)	Inborn genetic diseases [RCV004966337]	uncertain significance	4	102267973	102267973	Human	1	name
12849982	CV367422	single nucleotide variant	NM_001135146.2(SLC39A8):c.978C>A (p.Cys326Ter)	not provided [RCV000439449]	likely pathogenic	4	102267942	102267942	Human		name
598238405	CV3893335	single nucleotide variant	NM_001135146.2(SLC39A8):c.730C>T (p.Gln244Ter)	not provided [RCV005256068]	uncertain significance	4	102304427	102304427	Human		name
598244146	CV3911157	single nucleotide variant	NM_001135146.2(SLC39A8):c.686C>A (p.Thr229Asn)	Inborn genetic diseases [RCV005276813]	uncertain significance	4	102304471	102304471	Human	1	name
598244151	CV3911158	single nucleotide variant	NM_001135146.2(SLC39A8):c.487A>G (p.Thr163Ala)	Inborn genetic diseases [RCV005276814]	uncertain significance	4	102307501	102307501	Human	1	name
13211411	CV425583	duplication	NM_001135146.2(SLC39A8):c.1097dup (p.Leu366fs)	SLC39A8-CDG [RCV003139700]\|not provided [RCV000497410]	uncertain significance	4	102267625	102267626	Human	1	name , trait , alternate_id
14695715	CV622876	single nucleotide variant	NM_001135146.2(SLC39A8):c.337T>C (p.Cys113Arg)	SLC39A8-CDG [RCV000785949]	uncertain significance	4	102315713	102315713	Human	1	name , trait , alternate_id
15181549	CV734351	single nucleotide variant	NM_001135146.2(SLC39A8):c.745C>G (p.Pro249Ala)	SLC39A8-related disorder [RCV003912963]\|not provided [RCV000907605]	benign\|likely benign	4	102304412	102304412	Human	1	name , trait , alternate_id
21068781	CV788769	single nucleotide variant	NM_001135146.2(SLC39A8):c.915G>C (p.Trp305Cys)	SLC39A8-CDG [RCV000984964]	uncertain significance	4	102268005	102268005	Human	1	name , trait , alternate_id
26902595	CV857616	single nucleotide variant	NM_001135146.2(SLC39A8):c.338G>C (p.Cys113Ser)	SLC39A8-CDG [RCV001089507]	likely pathogenic	4	102315712	102315712	Human	1	name , trait , alternate_id
28880412	CV859318	single nucleotide variant	NM_001135146.2(SLC39A8):c.608T>C (p.Phe203Ser)	not provided [RCV001090879]	uncertain significance	4	102305056	102305056	Human		name
126727490	CV1016338	single nucleotide variant	NM_001135146.2(SLC39A8):c.1026T>A (p.Cys342Ter)	SLC39A8-CDG [RCV001332454]	likely pathogenic	4	102267894	102267894	Human	1	name , trait , alternate_id
126727487	CV1016339	single nucleotide variant	NM_001135146.2(SLC39A8):c.1020C>G (p.Ile340Met)	SLC39A8-CDG [RCV001332453]	uncertain significance	4	102267900	102267900	Human	1	name , trait , alternate_id
150451045	CV1261027	single nucleotide variant	NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr)	Inflammatory bowel disease 1 [RCV003227984]\|not provided [RCV001680696]	benign	4	102267552	102267552	Human	391	name
152127499	CV1554232	single nucleotide variant	NM_001135146.2(SLC39A8):c.1345C>T (p.Leu449Phe)	not provided [RCV002176361]	benign	4	102263082	102263082	Human	12	name
152979829	CV1678220	single nucleotide variant	NM_001135146.2(SLC39A8):c.1283C>T (p.Thr428Ile)	SLC39A8-CDG [RCV002246724]	pathogenic	4	102263144	102263144	Human	1	name , trait , alternate_id
156051888	CV1867732	single nucleotide variant	NM_001135146.2(SLC39A8):c.1075G>A (p.Gly359Arg)	not provided [RCV002510205]	uncertain significance	4	102267648	102267648	Human		name
156353721	CV1974858	single nucleotide variant	NM_001135146.2(SLC39A8):c.1253T>C (p.Met418Thr)	not provided [RCV002602012]	uncertain significance	4	102263174	102263174	Human		name
155912241	CV2021728	single nucleotide variant	NM_001135146.2(SLC39A8):c.1259G>C (p.Arg420Thr)	not provided [RCV002726890]	uncertain significance	4	102263168	102263168	Human		name
156041123	CV2026386	single nucleotide variant	NM_001135146.2(SLC39A8):c.1042G>A (p.Glu348Lys)	not provided [RCV002736188]	uncertain significance	4	102267878	102267878	Human		name
155986607	CV2056121	single nucleotide variant	NM_001135146.2(SLC39A8):c.1337C>A (p.Ala446Asp)	not provided [RCV002819009]	uncertain significance	4	102263090	102263090	Human		name
10450093	CV215656	single nucleotide variant	NM_001135146.2(SLC39A8):c.1019T>A (p.Ile340Asn)	SLC39A8-CDG [RCV000203240]\|not provided [RCV000492852]	pathogenic\|likely pathogenic\|uncertain significance	4	102267901	102267901	Human	1	name , trait , alternate_id
243060706	CV2408649	single nucleotide variant	NM_001135146.2(SLC39A8):c.1372G>C (p.Glu458Gln)	SLC39A8-CDG [RCV003136779]	uncertain significance	4	102263055	102263055	Human	1	name , trait , alternate_id
405120081	CV2891741	single nucleotide variant	NM_001135146.2(SLC39A8):c.1093G>A (p.Ala365Thr)	not provided [RCV003558997]	likely benign	4	102267630	102267630	Human		name
405709746	CV3329213	single nucleotide variant	NM_001135146.2(SLC39A8):c.1007C>A (p.Thr336Asn)	Inborn genetic diseases [RCV004461602]	uncertain significance	4	102267913	102267913	Human	1	name
405867905	CV3396614	single nucleotide variant	NM_001135146.2(SLC39A8):c.1120T>A (p.Cys374Ser)	SLC39A8-CDG [RCV004560485]	uncertain significance	4	102267603	102267603	Human	1	name , trait , alternate_id
407514811	CV3484623	single nucleotide variant	NM_001135146.2(SLC39A8):c.1301T>C (p.Met434Thr)	Inborn genetic diseases [RCV004674708]	uncertain significance	4	102263126	102263126	Human	1	name
597627081	CV3600042	single nucleotide variant	NM_001135146.2(SLC39A8):c.1098G>C (p.Leu366Phe)	Inborn genetic diseases [RCV004966336]	uncertain significance	4	102267625	102267625	Human	1	name
597627088	CV3600045	single nucleotide variant	NM_001135146.2(SLC39A8):c.1082G>A (p.Ser361Asn)	Inborn genetic diseases [RCV004966339]	uncertain significance	4	102267641	102267641	Human	1	name
597627090	CV3600046	single nucleotide variant	NM_001135146.2(SLC39A8):c.1285G>T (p.Asp429Tyr)	Inborn genetic diseases [RCV004966340]	uncertain significance	4	102263142	102263142	Human	1	name
598237286	CV3911159	single nucleotide variant	NM_001135146.2(SLC39A8):c.1123T>A (p.Ser375Thr)	Inborn genetic diseases [RCV005275626]	uncertain significance	4	102267600	102267600	Human	1	name
12902442	CV406376	single nucleotide variant	NM_001135146.2(SLC39A8):c.1166A>G (p.Asn389Ser)	Inborn genetic diseases [RCV002526991]\|SLC39A8-CDG [RCV002226711]\|SLC39A8-related disorder [RCV004730954]\|not provided [RCV000487100]	uncertain significance	4	102267557	102267557	Human	2	name , trait , alternate_id
12912911	CV421461	single nucleotide variant	NM_001135146.2(SLC39A8):c.1091A>G (p.Gln364Arg)	not provided [RCV000493164]	uncertain significance	4	102267632	102267632	Human		name
13705619	CV536656	deletion	NM_001135146.2(SLC39A8):c.310_320del (p.Val104fs)	not provided [RCV000658184]	uncertain significance	4	102315730	102315740	Human		name
156052509	CV1867755	duplication	NM_001135146.2(SLC39A8):c.940_948dup (p.Phe316_Ile317insHisAsnPhe)	not provided [RCV002510228]	uncertain significance	4	102267971	102267972	Human		name
11346816	CV242589	single nucleotide variant	NM_018127.7(ELAC2):c.1458T>C (p.Leu486=)	Combined oxidative phosphorylation defect type 17 [RCV001493371]\|not provided [RCV005411256]	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity	17	12998474	12998474	Human	9	alternate_id
12888630	CV395887	single nucleotide variant	NM_014855.3(AP5Z1):c.1062C>T (p.His354=)	Hereditary spastic paraplegia 48 [RCV000471286]\|Hereditary spastic paraplegia [RCV001848843]\|not provided [RCV001532098]	pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	4785614	4785614	Human	2	alternate_id
12898494	CV407304	single nucleotide variant	NM_014846.4(WASHC5):c.1238T>G (p.Leu413Arg)	Hereditary spastic paraplegia [RCV001848853]\|not provided [RCV000478039]	pathogenic\|likely pathogenic\|uncertain significance	8	125067632	125067632	Human	1	alternate_id

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