Slc1a4 Variant Search Result - Rat Genome Database

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420 records found for search term Slc1a4

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
21066986	CV795262	single nucleotide variant	NM_003038.5(SLC1A4):c.-1C>T	not provided [RCV000997152]	uncertain significance	2	64989643	64989643	Human		name
150457984	CV1278704	single nucleotide variant	NM_003038.5(SLC1A4):c.-35C>T	not provided [RCV001709320]	benign	2	64989609	64989609	Human		name
150475016	CV1217886	single nucleotide variant	NM_003038.5(SLC1A4):c.-131C>G	not provided [RCV001615897]	benign	2	64989513	64989513	Human		name
150477617	CV1262528	single nucleotide variant	NM_003038.5(SLC1A4):c.-130G>C	not provided [RCV001685341]	benign	2	64989514	64989514	Human		name
150445378	CV1278142	single nucleotide variant	NM_003038.3(SLC1A4):c.-291T>C	not provided [RCV001707285]	benign	2	64989353	64989353	Human		name
156249725	CV1988463	single nucleotide variant	NM_003038.5(SLC1A4):c.800+8C>A	not provided [RCV002645855]	likely benign	2	65010771	65010771	Human		name
401931531	CV2803781	single nucleotide variant	NM_003038.5(SLC1A4):c.634-1G>C	SLC1A4-related disorder [RCV003391469]	likely pathogenic	2	65010596	65010596	Human		name , trait , alternate_id
405219066	CV2869922	single nucleotide variant	NM_003038.5(SLC1A4):c.571-7A>T	not provided [RCV003553581]	likely benign	2	65003946	65003946	Human		name
402480544	CV2910721	single nucleotide variant	NM_003038.5(SLC1A4):c.528-7C>T	not provided [RCV003571901]	likely benign	2	65001441	65001441	Human		name
402522174	CV2940163	single nucleotide variant	NM_003038.5(SLC1A4):c.527+7C>T	not provided [RCV003663331]	likely benign	2	64990177	64990177	Human		name
126732755	CV1019677	single nucleotide variant	NM_003038.5(SLC1A4):c.1365-2A>G	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly [RCV001334109]	pathogenic	2	65020910	65020910	Human		name
127306230	CV1113030	single nucleotide variant	NM_003038.5(SLC1A4):c.1230-9A>T	not provided [RCV001455431]	likely benign	2	65018536	65018536	Human		name
150478344	CV1257131	single nucleotide variant	NM_003038.5(SLC1A4):c.570+82G>A	not provided [RCV001672361]	benign	2	65001572	65001572	Human		name
150484288	CV1280410	single nucleotide variant	NM_003038.5(SLC1A4):c.633+96A>G	not provided [RCV001715344]	benign	2	65004111	65004111	Human		name
151746340	CV1485181	single nucleotide variant	NM_003038.5(SLC1A4):c.1365-3C>G	not provided [RCV002006348]	uncertain significance	2	65020909	65020909	Human		name
152082582	CV1520792	single nucleotide variant	NM_003038.5(SLC1A4):c.634-20T>C	not provided [RCV002093048]	likely benign	2	65010577	65010577	Human		name
152159617	CV1522678	single nucleotide variant	NM_003038.5(SLC1A4):c.633+19T>C	not provided [RCV002140691]	likely benign	2	65004034	65004034	Human		name
152078036	CV1531425	single nucleotide variant	NM_003038.5(SLC1A4):c.570+17T>G	not provided [RCV002210860]	likely benign	2	65001507	65001507	Human		name
152055797	CV1582199	single nucleotide variant	NM_003038.5(SLC1A4):c.634-18T>C	not provided [RCV002089689]	likely benign	2	65010579	65010579	Human		name
152130578	CV1584506	single nucleotide variant	NM_003038.5(SLC1A4):c.634-11T>G	not provided [RCV002082809]	likely benign	2	65010586	65010586	Human		name
155268570	CV1704170	single nucleotide variant	NM_003038.5(SLC1A4):c.1034+2T>C	not provided [RCV002284157]	not provided	2	65016675	65016675	Human		name
156230988	CV1955997	single nucleotide variant	NM_003038.5(SLC1A4):c.571-15T>C	not provided [RCV002575871]	likely benign	2	65003938	65003938	Human		name
156180212	CV2072265	single nucleotide variant	NM_003038.5(SLC1A4):c.1230-6C>A	not provided [RCV002851812]	likely benign	2	65018539	65018539	Human		name
156198383	CV2092382	single nucleotide variant	NM_003038.5(SLC1A4):c.1229+7T>A	not provided [RCV002917699]	likely benign	2	65018272	65018272	Human		name
405211258	CV2867810	single nucleotide variant	NM_003038.5(SLC1A4):c.633+13A>G	not provided [RCV003552533]	likely benign	2	65004028	65004028	Human		name
405222732	CV2908498	single nucleotide variant	NM_003038.5(SLC1A4):c.634-17C>G	not provided [RCV003568681]	likely benign	2	65010580	65010580	Human		name
405200333	CV2912415	deletion	NM_003038.5(SLC1A4):c.1365-9del	not provided [RCV003565879]	benign	2	65020900	65020900	Human		name
405005731	CV2929489	single nucleotide variant	NM_003038.5(SLC1A4):c.1229+1G>A	not provided [RCV003576316]	likely pathogenic	2	65018266	65018266	Human		name
402505958	CV2947443	single nucleotide variant	NM_003038.5(SLC1A4):c.801-19C>T	not provided [RCV003661912]	likely benign	2	65016421	65016421	Human		name
405119677	CV2952180	single nucleotide variant	NM_003038.5(SLC1A4):c.633+18G>A	not provided [RCV003671333]	likely benign	2	65004033	65004033	Human		name
402480062	CV2991043	single nucleotide variant	NM_003038.5(SLC1A4):c.1034+7G>A	not provided [RCV003686505]	likely benign	2	65016680	65016680	Human		name
402512402	CV2991262	single nucleotide variant	NM_003038.5(SLC1A4):c.1230-7C>T	not provided [RCV003689662]	likely benign	2	65018538	65018538	Human		name
402512801	CV2991327	single nucleotide variant	NM_003038.5(SLC1A4):c.571-16T>G	not provided [RCV003689691]	likely benign	2	65003937	65003937	Human		name
405127537	CV3013839	single nucleotide variant	NM_003038.5(SLC1A4):c.1229+9C>T	not provided [RCV003701358]	likely benign	2	65018274	65018274	Human		name
405126990	CV3017403	deletion	NM_003038.5(SLC1A4):c.801-16del	not provided [RCV003701308]	likely benign	2	65016424	65016424	Human		name
405055073	CV3022446	single nucleotide variant	NM_003038.5(SLC1A4):c.527+17C>T	not provided [RCV003697222]	likely benign	2	64990187	64990187	Human		name
405207180	CV3041976	single nucleotide variant	NM_003038.5(SLC1A4):c.1229+1G>C	not provided [RCV003708055]	likely pathogenic	2	65018266	65018266	Human		name
405095252	CV3119036	single nucleotide variant	NM_003038.5(SLC1A4):c.528-18T>A	not provided [RCV003811487]	likely benign	2	65001430	65001430	Human		name
405115166	CV3119182	single nucleotide variant	NM_003038.5(SLC1A4):c.571-13C>T	not provided [RCV003814218]	likely benign	2	65003940	65003940	Human		name
404981938	CV3121432	single nucleotide variant	NM_003038.5(SLC1A4):c.528-20A>G	not provided [RCV003826231]	likely benign	2	65001428	65001428	Human		name
405132782	CV3130125	single nucleotide variant	NM_003038.5(SLC1A4):c.634-20T>G	not provided [RCV003838548]	likely benign	2	65010577	65010577	Human		name
405228280	CV3153309	single nucleotide variant	NM_003038.5(SLC1A4):c.571-19T>C	not provided [RCV003848372]	likely benign	2	65003934	65003934	Human		name
597889087	CV3739343	single nucleotide variant	NM_003038.5(SLC1A4):c.800+15G>C	not provided [RCV005070890]	likely benign	2	65010778	65010778	Human		name
597932346	CV3742640	single nucleotide variant	NM_003038.5(SLC1A4):c.571-19T>G	not provided [RCV005076079]	likely benign	2	65003934	65003934	Human		name
597877662	CV3776153	single nucleotide variant	NM_003038.5(SLC1A4):c.528-15T>C	not provided [RCV005123681]	likely benign	2	65001433	65001433	Human		name
597960084	CV3815491	duplication	NM_003038.5(SLC1A4):c.633+12dup	not provided [RCV005163424]	benign	2	65004022	65004023	Human		name
13827660	CV578404	single nucleotide variant	NM_003038.5(SLC1A4):c.1364+1G>A	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV000714856]	pathogenic	2	65018680	65018680	Human	1	name
150515508	CV1227580	single nucleotide variant	NM_003038.5(SLC1A4):c.800+153G>A	not provided [RCV001638854]	benign	2	65010916	65010916	Human		name
150439192	CV1247687	single nucleotide variant	NM_003038.5(SLC1A4):c.571-128G>A	not provided [RCV001666054]	benign	2	65003825	65003825	Human		name
150471679	CV1253398	single nucleotide variant	NM_003038.5(SLC1A4):c.528-123C>T	not provided [RCV001671311]	benign	2	65001325	65001325	Human		name
152113068	CV1585867	single nucleotide variant	NM_003038.5(SLC1A4):c.1230-14C>G	not provided [RCV002153312]	likely benign	2	65018531	65018531	Human		name
152125032	CV1630093	single nucleotide variant	NM_003038.5(SLC1A4):c.1034+15G>A	not provided [RCV002154754]	benign	2	65016688	65016688	Human		name
152169518	CV1632307	single nucleotide variant	NM_003038.5(SLC1A4):c.1230-17G>C	not provided [RCV002142814]	likely benign	2	65018528	65018528	Human		name
156033231	CV2037082	single nucleotide variant	NM_003038.5(SLC1A4):c.1035-15T>C	not provided [RCV002781198]	likely benign	2	65018056	65018056	Human		name
155980011	CV2157215	single nucleotide variant	NM_003038.5(SLC1A4):c.1034+20C>G	not provided [RCV003016332]	likely benign	2	65016693	65016693	Human		name
405082915	CV2865005	single nucleotide variant	NM_003038.5(SLC1A4):c.1229+15C>T	not provided [RCV003549366]	likely benign	2	65018280	65018280	Human		name
405223238	CV2919033	single nucleotide variant	NM_003038.5(SLC1A4):c.1034+13T>G	not provided [RCV003568752]	likely benign	2	65016686	65016686	Human		name
402479136	CV2924926	single nucleotide variant	NM_003038.5(SLC1A4):c.1229+11C>T	not provided [RCV003571883]	likely benign	2	65018276	65018276	Human		name
405009118	CV2926796	single nucleotide variant	NM_003038.5(SLC1A4):c.1365-12T>G	not provided [RCV003576474]	likely benign	2	65020900	65020900	Human		name
402485773	CV2945061	single nucleotide variant	NM_003038.5(SLC1A4):c.1364+13T>C	not provided [RCV003660056]	likely benign	2	65018692	65018692	Human		name
405168971	CV2951093	single nucleotide variant	NM_003038.5(SLC1A4):c.1365-12T>C	not provided [RCV003675261]	likely benign	2	65020900	65020900	Human		name
405237467	CV2969922	single nucleotide variant	NM_003038.5(SLC1A4):c.1034+16G>T	not provided [RCV003683333]	likely benign	2	65016689	65016689	Human		name
405248518	CV2986984	single nucleotide variant	NM_003038.5(SLC1A4):c.1229+15C>A	not provided [RCV003685991]	likely benign	2	65018280	65018280	Human		name
404996377	CV2992541	single nucleotide variant	NM_003038.5(SLC1A4):c.1364+17G>C	not provided [RCV003692744]	likely benign	2	65018696	65018696	Human		name
405240640	CV3004515	single nucleotide variant	NM_003038.5(SLC1A4):c.1229+20C>T	not provided [RCV003719126]	likely benign	2	65018285	65018285	Human		name
405090266	CV3134418	single nucleotide variant	NM_003038.5(SLC1A4):c.1364+20A>G	not provided [RCV003834764]	likely benign	2	65018699	65018699	Human		name
405062309	CV3148409	single nucleotide variant	NM_003038.5(SLC1A4):c.1365-13C>A	not provided [RCV003850365]	likely benign	2	65020899	65020899	Human		name
405175535	CV3150504	single nucleotide variant	NM_003038.5(SLC1A4):c.1229+16T>C	not provided [RCV003841778]	likely benign	2	65018281	65018281	Human		name
405157047	CV3152558	single nucleotide variant	NM_003038.5(SLC1A4):c.1034+16G>A	not provided [RCV003840485]	likely benign	2	65016689	65016689	Human		name
405205149	CV3165636	single nucleotide variant	NM_003038.5(SLC1A4):c.1230-11C>T	not provided [RCV003861302]	likely benign	2	65018534	65018534	Human		name
150505494	CV1222903	single nucleotide variant	NM_003038.5(SLC1A4):c.1365-241G>T	not provided [RCV001621838]	benign	2	65020671	65020671	Human		name
150506032	CV1254769	single nucleotide variant	NM_003038.5(SLC1A4):c.1364+104C>T	not provided [RCV001678074]	benign	2	65018783	65018783	Human		name
150472809	CV1272550	single nucleotide variant	NM_003038.5(SLC1A4):c.1034+192C>T	not provided [RCV001695606]	benign	2	65016865	65016865	Human		name
150460599	CV1275844	single nucleotide variant	NM_003038.5(SLC1A4):c.1365-163A>G	not provided [RCV001709782]	benign	2	65020749	65020749	Human		name
150511664	CV1284751	single nucleotide variant	NM_003038.5(SLC1A4):c.1364+310G>A	not provided [RCV001721620]	benign	2	65018989	65018989	Human		name
150511779	CV1284781	single nucleotide variant	NM_003038.5(SLC1A4):c.1034+242T>G	not provided [RCV001721650]	benign	2	65016915	65016915	Human		name
150334235	CV1170979	deletion	NM_001193493.2(SLC1A4):c.-134+630del	not provided [RCV001539901]	benign	2	64989248	64989248	Human		name
150443978	CV1249351	single nucleotide variant	NM_001193493.2(SLC1A4):c.-134+691C>G	not provided [RCV001666783]	benign	2	64989311	64989311	Human		name
150436529	CV1234076	single nucleotide variant	NM_003038.5(SLC1A4):c.21C>A (p.Thr7=)	not provided [RCV001644203]	benign	2	64989664	64989664	Human		name
152091254	CV1525889	single nucleotide variant	NM_003038.5(SLC1A4):c.48G>A (p.Ala16=)	not provided [RCV002150617]	likely benign	2	64989691	64989691	Human		name
152173957	CV1568756	single nucleotide variant	NM_003038.5(SLC1A4):c.51G>T (p.Gly17=)	not provided [RCV002184345]	likely benign	2	64989694	64989694	Human		name
152147689	CV1647346	single nucleotide variant	NM_003038.5(SLC1A4):c.60C>A (p.Ala20=)	not provided [RCV002201481]	likely benign	2	64989703	64989703	Human		name
156313324	CV1966511	single nucleotide variant	NM_003038.5(SLC1A4):c.36C>T (p.Asp12=)	not provided [RCV002578814]	likely benign	2	64989679	64989679	Human		name
329351182	CV2477967	single nucleotide variant	NM_003038.5(SLC1A4):c.2T>C (p.Met1Thr)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV003224078]	pathogenic	2	64989645	64989645	Human	1	name
402492058	CV2867239	single nucleotide variant	NM_003038.5(SLC1A4):c.99G>A (p.Arg33=)	not provided [RCV003544933]	likely benign	2	64989742	64989742	Human		name
405206740	CV2873993	single nucleotide variant	NM_003038.5(SLC1A4):c.48G>T (p.Ala16=)	not provided [RCV003552038]	likely benign	2	64989691	64989691	Human		name
402483835	CV2922241	single nucleotide variant	NM_003038.5(SLC1A4):c.63G>C (p.Gly21=)	not provided [RCV003572342]	likely benign	2	64989706	64989706	Human		name
402503065	CV2937722	single nucleotide variant	NM_003038.5(SLC1A4):c.42T>C (p.Ala14=)	SLC1A4-related disorder [RCV004755005]\|not provided [RCV003661785]	likely benign	2	64989685	64989685	Human	1	name , trait , alternate_id
405131885	CV2953867	single nucleotide variant	NM_003038.5(SLC1A4):c.72T>C (p.Ala24=)	not provided [RCV003672480]	likely benign	2	64989715	64989715	Human		name
405147813	CV2960131	single nucleotide variant	NM_003038.5(SLC1A4):c.60C>T (p.Ala20=)	not provided [RCV003669831]	likely benign	2	64989703	64989703	Human		name
405228119	CV2963760	single nucleotide variant	NM_003038.5(SLC1A4):c.75G>C (p.Pro25=)	not provided [RCV003681783]	likely benign	2	64989718	64989718	Human		name
405228946	CV2973714	single nucleotide variant	NM_003038.5(SLC1A4):c.81C>T (p.Thr27=)	not provided [RCV003681850]	likely benign	2	64989724	64989724	Human		name
405201556	CV2979119	single nucleotide variant	NM_003038.5(SLC1A4):c.66C>T (p.Pro22=)	not provided [RCV003678234]	likely benign	2	64989709	64989709	Human		name
405035957	CV3016741	single nucleotide variant	NM_003038.5(SLC1A4):c.51G>A (p.Gly17=)	not provided [RCV003695945]	likely benign	2	64989694	64989694	Human		name
405216276	CV3124688	single nucleotide variant	NM_003038.5(SLC1A4):c.81C>G (p.Thr27=)	not provided [RCV003824051]	likely benign	2	64989724	64989724	Human		name
405144804	CV3155816	single nucleotide variant	NM_003038.5(SLC1A4):c.87G>C (p.Ala29=)	not provided [RCV003855858]	likely benign	2	64989730	64989730	Human		name
127297606	CV1154190	single nucleotide variant	NM_003038.5(SLC1A4):c.234C>G (p.Pro78=)	SLC1A4-related disorder [RCV003966079]\|not provided [RCV001512936]	benign\|likely benign	2	64989877	64989877	Human	1	name , trait , alternate_id
156259022	CV1957299	single nucleotide variant	NM_003038.5(SLC1A4):c.270C>A (p.Ile90=)	not provided [RCV002576782]	likely benign	2	64989913	64989913	Human		name
156375005	CV1960040	single nucleotide variant	NM_003038.5(SLC1A4):c.223C>T (p.Leu75=)	not provided [RCV002582728]	likely benign	2	64989866	64989866	Human		name
156390950	CV2006166	single nucleotide variant	NM_003038.5(SLC1A4):c.120G>T (p.Arg40=)	not provided [RCV002654376]	likely benign	2	64989763	64989763	Human		name
156071324	CV2028846	single nucleotide variant	NM_003038.5(SLC1A4):c.168G>T (p.Ala56=)	not provided [RCV002760328]	likely benign	2	64989811	64989811	Human		name
405042384	CV2862931	single nucleotide variant	NM_003038.5(SLC1A4):c.165C>T (p.Gly55=)	not provided [RCV003579215]	likely benign	2	64989808	64989808	Human		name
405126118	CV2886590	single nucleotide variant	NM_003038.5(SLC1A4):c.144C>T (p.Thr48=)	not provided [RCV003559586]	likely benign	2	64989787	64989787	Human		name
405207150	CV2913536	single nucleotide variant	NM_003038.5(SLC1A4):c.228C>T (p.Ala76=)	not provided [RCV003566584]	likely benign	2	64989871	64989871	Human		name
405100303	CV2937982	single nucleotide variant	NM_003038.5(SLC1A4):c.237C>A (p.Gly79=)	not provided [RCV003665748]	likely benign	2	64989880	64989880	Human		name
405210501	CV2970600	single nucleotide variant	NM_003038.5(SLC1A4):c.153G>T (p.Gly51=)	not provided [RCV003679325]	likely benign	2	64989796	64989796	Human		name
402477860	CV2980128	single nucleotide variant	NM_003038.5(SLC1A4):c.234C>T (p.Pro78=)	not provided [RCV003686256]	likely benign	2	64989877	64989877	Human		name
405254654	CV2988288	single nucleotide variant	NM_003038.5(SLC1A4):c.168G>C (p.Ala56=)	not provided [RCV003723111]	likely benign	2	64989811	64989811	Human		name
405231890	CV2988541	single nucleotide variant	NM_003038.5(SLC1A4):c.130C>T (p.Leu44=)	not provided [RCV003711660]	likely benign	2	64989773	64989773	Human		name
405204599	CV2990577	single nucleotide variant	NM_003038.5(SLC1A4):c.291C>T (p.Ser97=)	not provided [RCV003678571]	likely benign	2	64989934	64989934	Human		name
405130579	CV3011027	single nucleotide variant	NM_003038.5(SLC1A4):c.216C>T (p.Val72=)	not provided [RCV003701661]	likely benign	2	64989859	64989859	Human		name
405233930	CV3032301	single nucleotide variant	NM_003038.5(SLC1A4):c.183G>A (p.Ala61=)	not provided [RCV003711976]	likely benign	2	64989826	64989826	Human		name
405112257	CV3118588	single nucleotide variant	NM_003038.5(SLC1A4):c.189C>T (p.Arg63=)	not provided [RCV003813816]	likely benign	2	64989832	64989832	Human		name
405115201	CV3119186	single nucleotide variant	NM_003038.5(SLC1A4):c.156G>A (p.Val52=)	not provided [RCV003814222]	likely benign	2	64989799	64989799	Human		name
405003008	CV3120701	single nucleotide variant	NM_003038.5(SLC1A4):c.157C>T (p.Leu53=)	not provided [RCV003828304]	likely benign	2	64989800	64989800	Human		name
404984002	CV3121669	single nucleotide variant	NM_003038.5(SLC1A4):c.126A>G (p.Gln42=)	not provided [RCV003826468]	likely benign	2	64989769	64989769	Human		name
405169655	CV3122421	single nucleotide variant	NM_003038.5(SLC1A4):c.222C>T (p.Tyr74=)	not provided [RCV003819010]	likely benign	2	64989865	64989865	Human		name
405091859	CV3122658	single nucleotide variant	NM_003038.5(SLC1A4):c.199C>T (p.Leu67=)	not provided [RCV003811223]	likely benign	2	64989842	64989842	Human		name
405163609	CV3125213	single nucleotide variant	NM_003038.5(SLC1A4):c.285C>G (p.Val95=)	not provided [RCV003818485]	likely benign	2	64989928	64989928	Human		name
405119957	CV3131429	single nucleotide variant	NM_003038.5(SLC1A4):c.147G>A (p.Val49=)	not provided [RCV003837293]	likely benign	2	64989790	64989790	Human		name
405134701	CV3133930	single nucleotide variant	NM_003038.5(SLC1A4):c.153G>A (p.Gly51=)	not provided [RCV003838709]	likely benign	2	64989796	64989796	Human		name
405115035	CV3134154	single nucleotide variant	NM_003038.5(SLC1A4):c.141C>T (p.Leu47=)	not provided [RCV003836756]	likely benign	2	64989784	64989784	Human		name
405147661	CV3141889	single nucleotide variant	NM_003038.5(SLC1A4):c.153G>C (p.Gly51=)	not provided [RCV003839811]	likely benign	2	64989796	64989796	Human		name
405061891	CV3148380	single nucleotide variant	NM_003038.5(SLC1A4):c.168G>A (p.Ala56=)	not provided [RCV003850336]	likely benign	2	64989811	64989811	Human		name
404999753	CV3183585	single nucleotide variant	NM_003038.5(SLC1A4):c.111C>A (p.Gly37=)	not provided [RCV003882462]	likely benign	2	64989754	64989754	Human		name
405259048	CV3197896	single nucleotide variant	NM_003038.5(SLC1A4):c.177C>A (p.Gly59=)	SLC1A4-related disorder [RCV003893819]	likely benign	2	64989820	64989820	Human		name , trait , alternate_id
127319947	CV1154191	single nucleotide variant	NM_003038.5(SLC1A4):c.312G>C (p.Ser104=)	not provided [RCV001522381]	benign	2	64989955	64989955	Human		name
151798579	CV1337198	single nucleotide variant	NM_003038.5(SLC1A4):c.88G>A (p.Gly30Arg)	not provided [RCV002047770]	uncertain significance	2	64989731	64989731	Human		name
151743525	CV1404496	single nucleotide variant	NM_003038.5(SLC1A4):c.68G>A (p.Gly23Glu)	not provided [RCV002022564]	uncertain significance	2	64989711	64989711	Human		name
152037025	CV1521846	single nucleotide variant	NM_003038.5(SLC1A4):c.870G>A (p.Leu290=)	not provided [RCV002187675]	likely benign	2	65016509	65016509	Human		name
152030658	CV1534321	single nucleotide variant	NM_003038.5(SLC1A4):c.897C>T (p.Phe299=)	not provided [RCV002086191]	likely benign	2	65016536	65016536	Human		name
152143852	CV1538479	single nucleotide variant	NM_003038.5(SLC1A4):c.747T>C (p.Arg249=)	not provided [RCV002219734]	likely benign	2	65010710	65010710	Human		name
152152180	CV1559812	single nucleotide variant	NM_003038.5(SLC1A4):c.684G>C (p.Leu228=)	not provided [RCV002220987]	likely benign	2	65010647	65010647	Human		name
152078174	CV1564809	single nucleotide variant	NM_003038.5(SLC1A4):c.771G>A (p.Ala257=)	not provided [RCV002192693]	likely benign	2	65010734	65010734	Human		name
152029720	CV1568622	single nucleotide variant	NM_003038.5(SLC1A4):c.907T>C (p.Leu303=)	not provided [RCV002186255]	likely benign	2	65016546	65016546	Human		name
152175284	CV1586308	single nucleotide variant	NM_003038.5(SLC1A4):c.330C>T (p.Leu110=)	not provided [RCV002184820]	likely benign	2	64989973	64989973	Human		name
152105562	CV1634170	single nucleotide variant	NM_003038.5(SLC1A4):c.363T>C (p.Phe121=)	not provided [RCV002196102]	likely benign	2	64990006	64990006	Human		name
152106812	CV1639082	single nucleotide variant	NM_003038.5(SLC1A4):c.705G>T (p.Val235=)	not provided [RCV002152516]	likely benign	2	65010668	65010668	Human		name
152064331	CV1654232	single nucleotide variant	NM_003038.5(SLC1A4):c.600G>A (p.Gln200=)	not provided [RCV002190938]	likely benign	2	65003982	65003982	Human		name
152080325	CV1663620	single nucleotide variant	NM_003038.5(SLC1A4):c.987C>G (p.Leu329=)	not provided [RCV002149223]	likely benign	2	65016626	65016626	Human		name
152030088	CV1665046	single nucleotide variant	NM_003038.5(SLC1A4):c.666C>T (p.Asn222=)	not provided [RCV002105812]	likely benign	2	65010629	65010629	Human		name
156174839	CV1956510	single nucleotide variant	NM_003038.5(SLC1A4):c.474G>A (p.Ser158=)	not provided [RCV002573925]	likely benign	2	64990117	64990117	Human		name
156109668	CV1961354	single nucleotide variant	NM_003038.5(SLC1A4):c.534G>A (p.Leu178=)	not provided [RCV002592725]	likely benign	2	65001454	65001454	Human		name
156383280	CV1975350	single nucleotide variant	NM_003038.5(SLC1A4):c.49G>A (p.Gly17Arg)	not provided [RCV002604119]	uncertain significance	2	64989692	64989692	Human		name
156051113	CV2027328	single nucleotide variant	NM_003038.5(SLC1A4):c.813G>A (p.Val271=)	not provided [RCV002736514]	likely benign	2	65016452	65016452	Human		name
156210795	CV2032270	single nucleotide variant	NM_003038.5(SLC1A4):c.804C>T (p.Tyr268=)	not provided [RCV002711755]	likely benign	2	65016443	65016443	Human		name
156154780	CV2150727	single nucleotide variant	NM_003038.5(SLC1A4):c.65C>A (p.Pro22His)	not provided [RCV003022979]	uncertain significance	2	64989708	64989708	Human		name
156087498	CV2295431	single nucleotide variant	NM_003038.5(SLC1A4):c.91C>T (p.Arg31Cys)	Inborn genetic diseases [RCV002887809]	uncertain significance	2	64989734	64989734	Human	1	name
243060604	CV2408604	single nucleotide variant	NM_003038.5(SLC1A4):c.570G>A (p.Thr190=)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV003136733]\|not provided [RCV004765758]	uncertain significance	2	65001490	65001490	Human	1	name
401912064	CV2811971	single nucleotide variant	NM_003038.5(SLC1A4):c.864C>T (p.Ile288=)	not provided [RCV003426997]	likely benign	2	65016503	65016503	Human		name
405016281	CV2855730	single nucleotide variant	NM_003038.5(SLC1A4):c.402C>G (p.Ala134=)	not provided [RCV003577158]	likely benign	2	64990045	64990045	Human		name
405087439	CV2862147	single nucleotide variant	NM_003038.5(SLC1A4):c.948T>C (p.Ile316=)	not provided [RCV003549555]	likely benign	2	65016587	65016587	Human		name
405064737	CV2878991	single nucleotide variant	NM_003038.5(SLC1A4):c.843C>T (p.Ile281=)	not provided [RCV003548157]	likely benign	2	65016482	65016482	Human		name
402495491	CV2883660	single nucleotide variant	NM_003038.5(SLC1A4):c.675A>G (p.Gly225=)	not provided [RCV003573397]	likely benign	2	65010638	65010638	Human		name
405225698	CV2885766	single nucleotide variant	NM_003038.5(SLC1A4):c.984C>T (p.Phe328=)	not provided [RCV003554517]	likely benign	2	65016623	65016623	Human		name
405048165	CV2886694	single nucleotide variant	NM_003038.5(SLC1A4):c.330C>G (p.Leu110=)	not provided [RCV003579599]	likely benign	2	64989973	64989973	Human		name
405110555	CV2894846	single nucleotide variant	NM_003038.5(SLC1A4):c.690T>C (p.Ala230=)	not provided [RCV003557839]	likely benign	2	65010653	65010653	Human		name
405158058	CV2898107	single nucleotide variant	NM_003038.5(SLC1A4):c.603C>T (p.Asn201=)	not provided [RCV003562196]	likely benign	2	65003985	65003985	Human		name
402517044	CV2936469	single nucleotide variant	NM_003038.5(SLC1A4):c.753C>T (p.Phe251=)	not provided [RCV003663029]	likely benign	2	65010716	65010716	Human		name
405065821	CV2940027	single nucleotide variant	NM_003038.5(SLC1A4):c.585T>C (p.Tyr195=)	not provided [RCV003659090]	likely benign	2	65003967	65003967	Human		name
405072891	CV2941198	single nucleotide variant	NM_003038.5(SLC1A4):c.702A>G (p.Gly234=)	not provided [RCV003664089]	likely benign	2	65010665	65010665	Human		name
405123302	CV2954268	single nucleotide variant	NM_003038.5(SLC1A4):c.369C>T (p.Leu123=)	not provided [RCV003667674]	likely benign	2	64990012	64990012	Human		name
405119232	CV2957492	single nucleotide variant	NM_003038.5(SLC1A4):c.999C>A (p.Leu333=)	not provided [RCV003667262]	likely benign	2	65016638	65016638	Human		name
405143886	CV2959012	single nucleotide variant	NM_003038.5(SLC1A4):c.519C>T (p.Asp173=)	not provided [RCV003673468]	likely benign	2	64990162	64990162	Human		name
405210844	CV2970559	single nucleotide variant	NM_003038.5(SLC1A4):c.504G>A (p.Val168=)	not provided [RCV003679300]	likely benign	2	64990147	64990147	Human		name
405213597	CV2971331	single nucleotide variant	NM_003038.5(SLC1A4):c.522G>A (p.Leu174=)	not provided [RCV003679727]	likely benign	2	64990165	64990165	Human		name
405193680	CV2975119	single nucleotide variant	NM_003038.5(SLC1A4):c.510T>A (p.Ser170=)	not provided [RCV003677440]	likely benign	2	64990153	64990153	Human		name
405231098	CV2988289	single nucleotide variant	NM_003038.5(SLC1A4):c.396C>G (p.Ala132=)	not provided [RCV003711535]	likely benign	2	64990039	64990039	Human		name
405010218	CV2990254	single nucleotide variant	NM_003038.5(SLC1A4):c.354C>G (p.Val118=)	not provided [RCV003693858]	likely benign	2	64989997	64989997	Human		name
405033850	CV3009273	single nucleotide variant	NM_003038.5(SLC1A4):c.414C>T (p.Ile138=)	not provided [RCV003695715]	likely benign	2	64990057	64990057	Human		name
405124442	CV3021033	single nucleotide variant	NM_003038.5(SLC1A4):c.723C>T (p.Gly241=)	not provided [RCV003701002]	likely benign	2	65010686	65010686	Human		name
405143107	CV3023108	single nucleotide variant	NM_003038.5(SLC1A4):c.303C>A (p.Gly101=)	not provided [RCV003702693]	likely benign	2	64989946	64989946	Human		name
405142397	CV3026557	single nucleotide variant	NM_003038.5(SLC1A4):c.837C>T (p.Ser279=)	not provided [RCV003702631]	likely benign	2	65016476	65016476	Human		name
405084187	CV3028150	single nucleotide variant	NM_003038.5(SLC1A4):c.810T>C (p.Pro270=)	not provided [RCV003699260]	likely benign	2	65016449	65016449	Human		name
405049723	CV3028991	single nucleotide variant	NM_003038.5(SLC1A4):c.624C>G (p.Thr208=)	not provided [RCV003696810]	likely benign	2	65004006	65004006	Human		name
405234419	CV3032347	single nucleotide variant	NM_003038.5(SLC1A4):c.396C>T (p.Ala132=)	not provided [RCV003712004]	likely benign	2	64990039	64990039	Human		name
402501223	CV3035427	single nucleotide variant	NM_003038.5(SLC1A4):c.351T>C (p.Ala117=)	not provided [RCV003714758]	likely benign	2	64989994	64989994	Human		name
405209023	CV3037236	single nucleotide variant	NM_003038.5(SLC1A4):c.813G>T (p.Val271=)	not provided [RCV003708345]	likely benign	2	65016452	65016452	Human		name
405196893	CV3037712	single nucleotide variant	NM_003038.5(SLC1A4):c.324C>T (p.Ser108=)	not provided [RCV003706952]	likely benign	2	64989967	64989967	Human		name
405196313	CV3037713	single nucleotide variant	NM_003038.5(SLC1A4):c.327C>T (p.Cys109=)	not provided [RCV003706953]	likely benign	2	64989970	64989970	Human		name
405234548	CV3040619	single nucleotide variant	NM_003038.5(SLC1A4):c.79A>G (p.Thr27Ala)	not provided [RCV003712093]	uncertain significance	2	64989722	64989722	Human		name
405201453	CV3041387	single nucleotide variant	NM_003038.5(SLC1A4):c.450C>T (p.Ser150=)	not provided [RCV003707482]	likely benign	2	64990093	64990093	Human		name
405204451	CV3058038	single nucleotide variant	NM_003038.5(SLC1A4):c.915T>C (p.His305=)	not provided [RCV003731154]	likely benign	2	65016554	65016554	Human		name
405185413	CV3058513	single nucleotide variant	NM_003038.5(SLC1A4):c.858C>T (p.Asp286=)	not provided [RCV003729214]	likely benign	2	65016497	65016497	Human		name
405189751	CV3069714	single nucleotide variant	NM_003038.5(SLC1A4):c.900A>C (p.Ala300=)	not provided [RCV003729611]	likely benign	2	65016539	65016539	Human		name
405104624	CV3116696	single nucleotide variant	NM_003038.5(SLC1A4):c.315C>A (p.Leu105=)	not provided [RCV003812220]	likely benign	2	64989958	64989958	Human		name
404981337	CV3121139	single nucleotide variant	NM_003038.5(SLC1A4):c.402C>T (p.Ala134=)	not provided [RCV003826131]	likely benign	2	64990045	64990045	Human		name
405147808	CV3123123	single nucleotide variant	NM_003038.5(SLC1A4):c.972C>T (p.Asn324=)	not provided [RCV003817356]	likely benign	2	65016611	65016611	Human		name
405215580	CV3124597	single nucleotide variant	NM_003038.5(SLC1A4):c.354C>T (p.Val118=)	not provided [RCV003823959]	likely benign	2	64989997	64989997	Human		name
402520846	CV3126882	single nucleotide variant	NM_003038.5(SLC1A4):c.591C>T (p.Val197=)	not provided [RCV003824800]	likely benign	2	65003973	65003973	Human		name
404979251	CV3127785	single nucleotide variant	NM_003038.5(SLC1A4):c.726C>T (p.Ser242=)	not provided [RCV003825817]	likely benign	2	65010689	65010689	Human		name
405138683	CV3130818	single nucleotide variant	NM_003038.5(SLC1A4):c.816C>T (p.Gly272=)	not provided [RCV003839052]	likely benign	2	65016455	65016455	Human		name
404990240	CV3131980	single nucleotide variant	NM_003038.5(SLC1A4):c.435G>T (p.Ala145=)	not provided [RCV003827109]	likely benign	2	64990078	64990078	Human		name
405092691	CV3134587	single nucleotide variant	NM_003038.5(SLC1A4):c.558A>G (p.Ala186=)	not provided [RCV003834933]	likely benign	2	65001478	65001478	Human		name
405092758	CV3134592	single nucleotide variant	NM_003038.5(SLC1A4):c.540C>T (p.Pro180=)	not provided [RCV003834938]	likely benign	2	65001460	65001460	Human		name
405053668	CV3138398	single nucleotide variant	NM_003038.5(SLC1A4):c.975A>G (p.Pro325=)	not provided [RCV003832242]	likely benign	2	65016614	65016614	Human		name
405044860	CV3141579	single nucleotide variant	NM_003038.5(SLC1A4):c.441C>T (p.Thr147=)	not provided [RCV003831680]	likely benign	2	64990084	64990084	Human		name
405218444	CV3143849	single nucleotide variant	NM_003038.5(SLC1A4):c.579C>T (p.Thr193=)	not provided [RCV003846819]	likely benign	2	65003961	65003961	Human		name
405101502	CV3144342	single nucleotide variant	NM_003038.5(SLC1A4):c.900A>G (p.Ala300=)	not provided [RCV003852795]	likely benign	2	65016539	65016539	Human		name
405210121	CV3146153	single nucleotide variant	NM_003038.5(SLC1A4):c.627T>C (p.His209=)	not provided [RCV003845684]	likely benign	2	65004009	65004009	Human		name
405191269	CV3149730	single nucleotide variant	NM_003038.5(SLC1A4):c.963A>G (p.Thr321=)	not provided [RCV003843456]	likely benign	2	65016602	65016602	Human		name
405169022	CV3149892	single nucleotide variant	NM_003038.5(SLC1A4):c.387G>A (p.Ser129=)	not provided [RCV003841363]	likely benign	2	64990030	64990030	Human		name
405172158	CV3150143	single nucleotide variant	NM_003038.5(SLC1A4):c.348C>T (p.Ile116=)	not provided [RCV003841614]	likely benign	2	64989991	64989991	Human		name
405221650	CV3158134	single nucleotide variant	NM_003038.5(SLC1A4):c.924T>C (p.His308=)	not provided [RCV003863629]	likely benign	2	65016563	65016563	Human		name
405208358	CV3162443	single nucleotide variant	NM_003038.5(SLC1A4):c.429C>T (p.Ser143=)	not provided [RCV003861742]	likely benign	2	64990072	64990072	Human		name
405150834	CV3162823	single nucleotide variant	NM_003038.5(SLC1A4):c.372C>G (p.Thr124=)	not provided [RCV003856266]	likely benign	2	64990015	64990015	Human		name
402510717	CV3178323	single nucleotide variant	NM_003038.5(SLC1A4):c.774G>A (p.Thr258=)	not provided [RCV003878940]	likely benign	2	65010737	65010737	Human		name
405000425	CV3183942	single nucleotide variant	NM_003038.5(SLC1A4):c.321C>T (p.Ala107=)	not provided [RCV003882525]	likely benign	2	64989964	64989964	Human		name
597844212	CV3736119	single nucleotide variant	NM_003038.5(SLC1A4):c.537T>C (p.Phe179=)	not provided [RCV005065467]	likely benign	2	65001457	65001457	Human		name
597850312	CV3746792	single nucleotide variant	NM_003038.5(SLC1A4):c.510T>C (p.Ser170=)	not provided [RCV005066189]	likely benign	2	64990153	64990153	Human		name
597873778	CV3768956	single nucleotide variant	NM_003038.5(SLC1A4):c.930A>G (p.Gly310=)	not provided [RCV005123126]	likely benign	2	65016569	65016569	Human		name
597950995	CV3815137	single nucleotide variant	NM_003038.5(SLC1A4):c.393C>G (p.Leu131=)	not provided [RCV005161087]	likely benign	2	64990036	64990036	Human		name
597846687	CV3828041	single nucleotide variant	NM_003038.5(SLC1A4):c.342C>T (p.Gly114=)	not provided [RCV005173116]	likely benign	2	64989985	64989985	Human		name
598200100	CV3921779	single nucleotide variant	NM_003038.5(SLC1A4):c.83C>T (p.Ala28Val)	Inborn genetic diseases [RCV005268491]	likely benign	2	64989726	64989726	Human	1	name
13445707	CV438139	single nucleotide variant	NM_003038.5(SLC1A4):c.40G>A (p.Ala14Thr)	not provided [RCV000512758]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	64989683	64989683	Human		name
14397121	CV612611	single nucleotide variant	NM_003038.5(SLC1A4):c.65C>T (p.Pro22Leu)	SLC1A4-related disorder [RCV003908073]\|not provided [RCV000762268]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	64989708	64989708	Human	1	name , trait , alternate_id
15152216	CV747735	single nucleotide variant	NM_003038.5(SLC1A4):c.765C>T (p.Asn255=)	not provided [RCV000923829]\|not specified [RCV001818878]	benign\|likely benign	2	65010728	65010728	Human		name
15196111	CV747736	single nucleotide variant	NM_003038.5(SLC1A4):c.999C>T (p.Leu333=)	SLC1A4-related disorder [RCV003958329]\|not provided [RCV000911605]	likely benign	2	65016638	65016638	Human	1	name , trait , alternate_id
127305025	CV1154189	single nucleotide variant	NM_003038.5(SLC1A4):c.109G>C (p.Gly37Arg)	not provided [RCV001516132]	benign	2	64989752	64989752	Human		name
127319354	CV1154193	single nucleotide variant	NM_003038.5(SLC1A4):c.1590G>A (p.Ser530=)	SLC1A4-related disorder [RCV003980614]\|not provided [RCV001522105]	benign	2	65021137	65021137	Human	1	name , trait , alternate_id
151818326	CV1390533	single nucleotide variant	NM_003038.5(SLC1A4):c.101G>A (p.Arg34His)	not provided [RCV001954504]	uncertain significance	2	64989744	64989744	Human		name
151868958	CV1415693	single nucleotide variant	NM_003038.5(SLC1A4):c.1170G>A (p.Ala390=)	not provided [RCV001884892]	likely benign\|uncertain significance	2	65018206	65018206	Human		name
151841647	CV1435844	single nucleotide variant	NM_003038.5(SLC1A4):c.221A>G (p.Tyr74Cys)	not provided [RCV001956826]	uncertain significance	2	64989864	64989864	Human		name
151868025	CV1516564	single nucleotide variant	NM_003038.5(SLC1A4):c.170G>T (p.Gly57Val)	not provided [RCV001980945]	uncertain significance	2	64989813	64989813	Human		name
152151552	CV1530422	single nucleotide variant	NM_003038.5(SLC1A4):c.1122G>C (p.Gly374=)	not provided [RCV002102306]	benign	2	65018158	65018158	Human		name
152134983	CV1564912	single nucleotide variant	NM_003038.5(SLC1A4):c.1119C>T (p.Ile373=)	not provided [RCV002199826]	likely benign	2	65018155	65018155	Human		name
152116651	CV1567035	single nucleotide variant	NM_003038.5(SLC1A4):c.1575G>A (p.Leu525=)	not provided [RCV002097581]	likely benign	2	65021122	65021122	Human		name
152161788	CV1584587	single nucleotide variant	NM_003038.5(SLC1A4):c.1236T>G (p.Thr412=)	not provided [RCV002123333]	likely benign	2	65018551	65018551	Human		name
152112405	CV1604232	single nucleotide variant	NM_003038.5(SLC1A4):c.1140C>T (p.Asp380=)	not provided [RCV002097032]	likely benign	2	65018176	65018176	Human		name
152082381	CV1641518	single nucleotide variant	NM_003038.5(SLC1A4):c.1167C>T (p.Ala389=)	not provided [RCV002211588]	likely benign	2	65018203	65018203	Human		name
153348381	CV1692325	deletion	NM_003038.5(SLC1A4):c.971del (p.Asn324fs)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV002273874]	pathogenic	2	65016605	65016605	Human	1	name
155730673	CV1780860	duplication	NM_003038.5(SLC1A4):c.885dup (p.Lys296fs)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV002308649]	likely pathogenic	2	65016520	65016521	Human	1	name
156391947	CV1991411	single nucleotide variant	NM_003038.5(SLC1A4):c.1041G>C (p.Ala347=)	not provided [RCV002635078]	likely benign	2	65018077	65018077	Human		name
155903438	CV2007159	single nucleotide variant	NM_003038.5(SLC1A4):c.209C>T (p.Thr70Met)	Inborn genetic diseases [RCV004066872]\|not provided [RCV002681244]	uncertain significance	2	64989852	64989852	Human	1	name
156064535	CV2018297	single nucleotide variant	NM_003038.5(SLC1A4):c.1329T>C (p.His443=)	not provided [RCV002705490]	likely benign	2	65018644	65018644	Human		name
155949843	CV2133045	single nucleotide variant	NM_003038.5(SLC1A4):c.1245G>A (p.Ala415=)	not provided [RCV002994563]	likely benign	2	65018560	65018560	Human		name
156161145	CV2371380	single nucleotide variant	NM_003038.5(SLC1A4):c.205C>T (p.Arg69Cys)	Inborn genetic diseases [RCV002698267]	uncertain significance	2	64989848	64989848	Human	1	name
401912066	CV2811972	single nucleotide variant	NM_003038.5(SLC1A4):c.1194C>T (p.Asn398=)	not provided [RCV003426998]	likely benign	2	65018230	65018230	Human		name
402485047	CV2855248	single nucleotide variant	NM_003038.5(SLC1A4):c.1275T>A (p.Ala425=)	not provided [RCV003544391]	likely benign	2	65018590	65018590	Human		name
402483320	CV2860691	single nucleotide variant	NM_003038.5(SLC1A4):c.1032C>T (p.Ser344=)	not provided [RCV003544190]	likely benign	2	65016671	65016671	Human		name
405201435	CV2861315	single nucleotide variant	NM_003038.5(SLC1A4):c.1011G>T (p.Ala337=)	not provided [RCV003551424]	likely benign	2	65016650	65016650	Human		name
405202001	CV2861420	single nucleotide variant	NM_003038.5(SLC1A4):c.1353G>C (p.Val451=)	not provided [RCV003551477]	likely benign	2	65018668	65018668	Human		name
405086899	CV2862301	duplication	NM_003038.5(SLC1A4):c.514dup (p.Leu172fs)	not provided [RCV003549628]	pathogenic	2	64990155	64990156	Human		name
402495275	CV2883739	single nucleotide variant	NM_003038.5(SLC1A4):c.1593T>C (p.Val531=)	not provided [RCV003573433]	likely benign	2	65021140	65021140	Human		name
405135656	CV2896912	single nucleotide variant	NM_003038.5(SLC1A4):c.1416C>T (p.Gly472=)	not provided [RCV003560398]	likely benign	2	65020963	65020963	Human		name
402471654	CV2904672	single nucleotide variant	NM_003038.5(SLC1A4):c.1221C>T (p.Phe407=)	not provided [RCV003570626]	likely benign	2	65018257	65018257	Human		name
405217507	CV2907289	single nucleotide variant	NM_003038.5(SLC1A4):c.1068T>C (p.Ile356=)	not provided [RCV003567969]	likely benign	2	65018104	65018104	Human		name
405208637	CV2909349	single nucleotide variant	NM_003038.5(SLC1A4):c.1590G>C (p.Ser530=)	not provided [RCV003566839]	likely benign	2	65021137	65021137	Human		name
405211702	CV2917358	single nucleotide variant	NM_003038.5(SLC1A4):c.1518A>G (p.Thr506=)	not provided [RCV003567262]	likely benign	2	65021065	65021065	Human		name
405214621	CV2925218	single nucleotide variant	NM_003038.5(SLC1A4):c.1086G>A (p.Val362=)	not provided [RCV003567623]	likely benign	2	65018122	65018122	Human		name
405088157	CV2943388	duplication	NM_003038.5(SLC1A4):c.971dup (p.Asn324fs)	not provided [RCV003665097]	pathogenic	2	65016604	65016605	Human		name
405100605	CV2948030	single nucleotide variant	NM_003038.5(SLC1A4):c.1485A>G (p.Glu495=)	not provided [RCV003666053]	likely benign	2	65021032	65021032	Human		name
405176736	CV2951872	single nucleotide variant	NM_003038.5(SLC1A4):c.1293T>C (p.Ile431=)	not provided [RCV003675822]	likely benign	2	65018608	65018608	Human		name
405152159	CV2957027	single nucleotide variant	NM_003038.5(SLC1A4):c.1476G>C (p.Val492=)	not provided [RCV003670042]	likely benign	2	65021023	65021023	Human		name
405152205	CV2957037	deletion	NM_003038.5(SLC1A4):c.913del (p.His305fs)	not provided [RCV003670048]	pathogenic	2	65016551	65016551	Human		name
405241856	CV2970924	single nucleotide variant	NM_003038.5(SLC1A4):c.1116C>T (p.Pro372=)	not provided [RCV003684226]	likely benign	2	65018152	65018152	Human		name
405217955	CV2978332	single nucleotide variant	NM_003038.5(SLC1A4):c.1281G>A (p.Gly427=)	not provided [RCV003709489]	likely benign	2	65018596	65018596	Human		name
405225753	CV2989801	single nucleotide variant	NM_003038.5(SLC1A4):c.1527G>A (p.Leu509=)	not provided [RCV003681390]	likely benign	2	65021074	65021074	Human		name
405240214	CV2990078	single nucleotide variant	NM_003038.5(SLC1A4):c.1584G>A (p.Lys528=)	not provided [RCV003683903]	likely benign	2	65021131	65021131	Human		name
404987702	CV2998408	single nucleotide variant	NM_003038.5(SLC1A4):c.1233G>C (p.Val411=)	not provided [RCV003691993]	likely benign	2	65018548	65018548	Human		name
405021933	CV3002666	single nucleotide variant	NM_003038.5(SLC1A4):c.1524C>T (p.Pro508=)	not provided [RCV003694904]	likely benign	2	65021071	65021071	Human		name
405242087	CV3014679	single nucleotide variant	NM_003038.5(SLC1A4):c.1224C>T (p.Thr408=)	not provided [RCV003719411]	likely benign	2	65018260	65018260	Human		name
402501015	CV3035236	single nucleotide variant	NM_003038.5(SLC1A4):c.1557G>A (p.Val519=)	not provided [RCV003714643]	likely benign	2	65021104	65021104	Human		name
402509057	CV3042338	single nucleotide variant	NM_003038.5(SLC1A4):c.1401T>C (p.Asp467=)	not provided [RCV003715507]	likely benign	2	65020948	65020948	Human		name
405094631	CV3045742	single nucleotide variant	NM_003038.5(SLC1A4):c.1011G>A (p.Ala337=)	not provided [RCV003718071]	likely benign	2	65016650	65016650	Human		name
405252306	CV3047137	single nucleotide variant	NM_003038.5(SLC1A4):c.1197A>G (p.Val399=)	not provided [RCV003722160]	likely benign	2	65018233	65018233	Human		name
405222339	CV3056957	single nucleotide variant	NM_003038.5(SLC1A4):c.1092G>A (p.Lys364=)	not provided [RCV003733505]	likely benign	2	65018128	65018128	Human		name
405226622	CV3059254	single nucleotide variant	NM_003038.5(SLC1A4):c.1266C>A (p.Gly422=)	not provided [RCV003734066]	likely benign	2	65018581	65018581	Human		name
405240111	CV3064259	single nucleotide variant	NM_003038.5(SLC1A4):c.1389T>C (p.Asn463=)	not provided [RCV003737063]	likely benign	2	65020936	65020936	Human		name
404978792	CV3127675	single nucleotide variant	NM_003038.5(SLC1A4):c.1005A>C (p.Pro335=)	not provided [RCV003825707]	likely benign	2	65016644	65016644	Human		name
405133401	CV3130180	single nucleotide variant	NM_003038.5(SLC1A4):c.1410T>G (p.Gly470=)	not provided [RCV003838603]	likely benign	2	65020957	65020957	Human		name
405224740	CV3142239	single nucleotide variant	NM_003038.5(SLC1A4):c.1524C>G (p.Pro508=)	not provided [RCV003847778]	likely benign	2	65021071	65021071	Human		name
405215777	CV3143306	single nucleotide variant	NM_003038.5(SLC1A4):c.1545C>T (p.Pro515=)	not provided [RCV003846470]	likely benign	2	65021092	65021092	Human		name
405204637	CV3144129	single nucleotide variant	NM_003038.5(SLC1A4):c.1335G>A (p.Leu445=)	not provided [RCV003844919]	likely benign	2	65018650	65018650	Human		name
405231077	CV3144447	single nucleotide variant	NM_003038.5(SLC1A4):c.1023T>A (p.Ala341=)	not provided [RCV003852900]	likely benign	2	65016662	65016662	Human		name
405182632	CV3147674	single nucleotide variant	NM_003038.5(SLC1A4):c.1323T>C (p.Pro441=)	not provided [RCV003842576]	likely benign	2	65018638	65018638	Human		name
405191313	CV3149734	single nucleotide variant	NM_003038.5(SLC1A4):c.1554C>A (p.Pro518=)	not provided [RCV003843460]	likely benign	2	65021101	65021101	Human		name
405230711	CV3153923	single nucleotide variant	NM_003038.5(SLC1A4):c.1110T>C (p.Ile370=)	not provided [RCV003848791]	likely benign	2	65018146	65018146	Human		name
405084820	CV3167180	single nucleotide variant	NM_003038.5(SLC1A4):c.1425C>T (p.His475=)	not provided [RCV003851761]	likely benign	2	65020972	65020972	Human		name
405086382	CV3167339	single nucleotide variant	NM_003038.5(SLC1A4):c.1318C>T (p.Leu440=)	not provided [RCV003851920]	likely benign	2	65018633	65018633	Human		name
405194680	CV3167681	single nucleotide variant	NM_003038.5(SLC1A4):c.1266C>T (p.Gly422=)	not provided [RCV003860087]	likely benign	2	65018581	65018581	Human		name
405212914	CV3169826	single nucleotide variant	NM_003038.5(SLC1A4):c.1443A>C (p.Ala481=)	not provided [RCV003862425]	likely benign	2	65020990	65020990	Human		name
405712247	CV3314730	single nucleotide variant	NM_003038.5(SLC1A4):c.113T>C (p.Phe38Ser)	Inborn genetic diseases [RCV004448650]	uncertain significance	2	64989756	64989756	Human	1	name
405712262	CV3314732	single nucleotide variant	NM_003038.5(SLC1A4):c.182C>T (p.Ala61Val)	Inborn genetic diseases [RCV004448652]	likely benign	2	64989825	64989825	Human	1	name
405712269	CV3314733	single nucleotide variant	NM_003038.5(SLC1A4):c.193C>T (p.Leu65Phe)	Inborn genetic diseases [RCV004448653]	uncertain significance	2	64989836	64989836	Human	1	name
405712274	CV3314734	single nucleotide variant	NM_003038.5(SLC1A4):c.199C>G (p.Leu67Val)	Inborn genetic diseases [RCV004448654]	uncertain significance	2	64989842	64989842	Human	1	name
597709484	CV3596391	single nucleotide variant	NM_003038.5(SLC1A4):c.247C>T (p.Leu83Phe)	Inborn genetic diseases [RCV004957878]	uncertain significance	2	64989890	64989890	Human	1	name
597882129	CV3745019	single nucleotide variant	NM_003038.5(SLC1A4):c.1074G>A (p.Glu358=)	not provided [RCV005070044]	likely benign	2	65018110	65018110	Human		name
597888788	CV3804763	single nucleotide variant	NM_003038.5(SLC1A4):c.1134C>T (p.Asn378=)	not provided [RCV005151025]	likely benign	2	65018170	65018170	Human		name
597938243	CV3808210	single nucleotide variant	NM_003038.5(SLC1A4):c.1158G>A (p.Gln386=)	not provided [RCV005158398]	likely benign	2	65018194	65018194	Human		name
597849961	CV3824525	single nucleotide variant	NM_003038.5(SLC1A4):c.1038A>G (p.Ser346=)	not provided [RCV005173564]	likely benign	2	65018074	65018074	Human		name
598269130	CV3921781	single nucleotide variant	NM_003038.5(SLC1A4):c.203G>A (p.Ser68Asn)	Inborn genetic diseases [RCV005281905]	uncertain significance	2	64989846	64989846	Human	1	name
13445979	CV438140	single nucleotide variant	NM_003038.5(SLC1A4):c.1182G>A (p.Ala394=)	not provided [RCV000513113]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	65018218	65018218	Human		name
13446236	CV438141	single nucleotide variant	NM_003038.5(SLC1A4):c.1380G>A (p.Thr460=)	not provided [RCV000513458]\|not specified [RCV001821429]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	65020927	65020927	Human		name
13509408	CV481555	deletion	NM_003038.5(SLC1A4):c.1035-381_1230-73del	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV000579174]	pathogenic	2	65017690	65018472	Human	1	name
15173263	CV733537	single nucleotide variant	NM_003038.5(SLC1A4):c.1353G>A (p.Val451=)	not provided [RCV000905828]\|not specified [RCV001818787]	benign	2	65018668	65018668	Human		name
15175556	CV733538	single nucleotide variant	NM_003038.5(SLC1A4):c.1521G>A (p.Ser507=)	not provided [RCV000906243]	benign\|likely benign	2	65021068	65021068	Human		name
15129506	CV747737	single nucleotide variant	NM_003038.5(SLC1A4):c.1029C>T (p.Cys343=)	not provided [RCV000919843]	likely benign	2	65016668	65016668	Human		name
15167117	CV747738	single nucleotide variant	NM_003038.5(SLC1A4):c.1128C>T (p.Thr376=)	not provided [RCV000927020]	likely benign	2	65018164	65018164	Human		name
15202478	CV747739	single nucleotide variant	NM_003038.5(SLC1A4):c.1206C>T (p.Asn402=)	not provided [RCV000913439]	benign	2	65018242	65018242	Human		name
15155200	CV747740	single nucleotide variant	NM_003038.5(SLC1A4):c.1455C>T (p.Gly485=)	not provided [RCV000924418]	likely benign	2	65021002	65021002	Human		name
15119781	CV763380	single nucleotide variant	NM_003038.5(SLC1A4):c.1041G>A (p.Ala347=)	SLC1A4-related disorder [RCV003978115]\|not provided [RCV000940237]	likely benign	2	65018077	65018077	Human	1	name , trait , alternate_id
15119620	CV781422	single nucleotide variant	NM_003038.5(SLC1A4):c.1491C>T (p.Ile497=)	not provided [RCV000979148]	likely benign	2	65021038	65021038	Human		name
21070701	CV790288	single nucleotide variant	NM_003038.5(SLC1A4):c.272T>C (p.Leu91Pro)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV000986765]\|not provided [RCV001858652]	likely pathogenic\|uncertain significance	2	64989915	64989915	Human	1	name
38597065	CV801794	single nucleotide variant	NM_003038.5(SLC1A4):c.240G>C (p.Glu80Asp)	Microcephaly [RCV001252884]	uncertain significance	2	64989883	64989883	Human	2	name
151749437	CV1338331	single nucleotide variant	NM_003038.5(SLC1A4):c.844G>A (p.Val282Met)	Inborn genetic diseases [RCV002554198]\|not provided [RCV001927371]	uncertain significance	2	65016483	65016483	Human	1	name
151866846	CV1342312	single nucleotide variant	NM_003038.5(SLC1A4):c.983T>G (p.Phe328Cys)	not provided [RCV001997837]	uncertain significance	2	65016622	65016622	Human		name
151796236	CV1352415	single nucleotide variant	NM_003038.5(SLC1A4):c.391C>T (p.Leu131Phe)	not provided [RCV001876966]	uncertain significance	2	64990034	64990034	Human		name
151847793	CV1361856	single nucleotide variant	NM_003038.5(SLC1A4):c.500C>G (p.Thr167Arg)	not provided [RCV001936947]	uncertain significance	2	64990143	64990143	Human		name
151825990	CV1404281	single nucleotide variant	NM_003038.5(SLC1A4):c.603C>G (p.Asn201Lys)	not provided [RCV001976188]	uncertain significance	2	65003985	65003985	Human		name
151796135	CV1404618	single nucleotide variant	NM_003038.5(SLC1A4):c.580G>A (p.Asp194Asn)	not provided [RCV002011141]	uncertain significance	2	65003962	65003962	Human		name
151796527	CV1421609	single nucleotide variant	NM_003038.5(SLC1A4):c.434C>T (p.Ala145Val)	not provided [RCV001917312]	uncertain significance	2	64990077	64990077	Human		name
151746778	CV1428366	single nucleotide variant	NM_003038.5(SLC1A4):c.389C>A (p.Ala130Glu)	not provided [RCV001927061]	uncertain significance	2	64990032	64990032	Human		name
151837760	CV1445235	single nucleotide variant	NM_003038.5(SLC1A4):c.488T>G (p.Val163Gly)	not provided [RCV001994377]	uncertain significance	2	64990131	64990131	Human		name
151814505	CV1449434	single nucleotide variant	NM_003038.5(SLC1A4):c.653T>C (p.Ile218Thr)	not provided [RCV002012769]	uncertain significance	2	65010616	65010616	Human		name
151891890	CV1460740	single nucleotide variant	NM_003038.5(SLC1A4):c.898G>A (p.Ala300Thr)	not provided [RCV001888891]	uncertain significance	2	65016537	65016537	Human		name
151823163	CV1466243	single nucleotide variant	NM_003038.5(SLC1A4):c.656A>C (p.Glu219Ala)	not provided [RCV001879412]	uncertain significance	2	65010619	65010619	Human		name
151848345	CV1484170	single nucleotide variant	NM_003038.5(SLC1A4):c.724T>G (p.Ser242Ala)	not provided [RCV001903755]	uncertain significance	2	65010687	65010687	Human		name
151881549	CV1484255	single nucleotide variant	NM_003038.5(SLC1A4):c.746G>A (p.Arg249His)	not provided [RCV001941118]	likely benign\|uncertain significance	2	65010709	65010709	Human		name
151721622	CV1488982	deletion	NM_003038.5(SLC1A4):c.1439del (p.Lys480fs)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV003989745]\|not provided [RCV002040167]	likely pathogenic\|uncertain significance	2	65020985	65020985	Human	1	name
151878299	CV1505992	single nucleotide variant	NM_003038.5(SLC1A4):c.824T>C (p.Phe275Ser)	not provided [RCV001886131]	uncertain significance	2	65016463	65016463	Human		name
151732070	CV1512230	single nucleotide variant	NM_003038.5(SLC1A4):c.865G>A (p.Val289Met)	not provided [RCV002021404]	conflicting interpretations of pathogenicity\|uncertain significance	2	65016504	65016504	Human		name
152095052	CV1617674	single nucleotide variant	NM_003038.5(SLC1A4):c.972C>A (p.Asn324Lys)	Inborn genetic diseases [RCV003053463]\|not provided [RCV002114592]	benign\|uncertain significance	2	65016611	65016611	Human	1	name
153348382	CV1692326	single nucleotide variant	NM_003038.5(SLC1A4):c.542C>T (p.Ser181Phe)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV002273875]	pathogenic	2	65001462	65001462	Human	1	name
155938848	CV1890354	single nucleotide variant	NM_003038.5(SLC1A4):c.964C>T (p.Arg322Ter)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV002510631]\|not provided [RCV002574739]	pathogenic\|likely pathogenic	2	65016603	65016603	Human	1	name
155984443	CV1897132	single nucleotide variant	NM_003038.5(SLC1A4):c.797T>C (p.Met266Thr)	not provided [RCV003097536]	uncertain significance	2	65010760	65010760	Human		name
156233600	CV1999474	single nucleotide variant	NM_003038.5(SLC1A4):c.907T>A (p.Leu303Met)	not provided [RCV002667675]	uncertain significance	2	65016546	65016546	Human		name
156117075	CV2015737	single nucleotide variant	NM_003038.5(SLC1A4):c.817A>G (p.Ile273Val)	not provided [RCV002695890]	uncertain significance	2	65016456	65016456	Human		name
156114465	CV2018700	single nucleotide variant	NM_003038.5(SLC1A4):c.415A>G (p.Ile139Val)	Inborn genetic diseases [RCV004066950]\|not provided [RCV002695796]	uncertain significance	2	64990058	64990058	Human	1	name
156284130	CV2050092	single nucleotide variant	NM_003038.5(SLC1A4):c.509C>T (p.Ser170Phe)	not provided [RCV002807090]	uncertain significance	2	64990152	64990152	Human		name
156083612	CV2060318	single nucleotide variant	NM_003038.5(SLC1A4):c.418A>G (p.Lys140Glu)	not provided [RCV002823937]	uncertain significance	2	64990061	64990061	Human		name
156267437	CV2092290	single nucleotide variant	NM_003038.5(SLC1A4):c.356C>T (p.Ala119Val)	not provided [RCV002895811]	uncertain significance	2	64989999	64989999	Human		name
156314194	CV2160686	single nucleotide variant	NM_003038.5(SLC1A4):c.655G>A (p.Glu219Lys)	not provided [RCV003046206]	uncertain significance	2	65010618	65010618	Human		name
156377062	CV2189100	single nucleotide variant	NM_003038.5(SLC1A4):c.466G>A (p.Glu156Lys)	not provided [RCV003050192]	uncertain significance	2	64990109	64990109	Human		name
155928012	CV2280986	single nucleotide variant	NM_003038.5(SLC1A4):c.537T>G (p.Phe179Leu)	Inborn genetic diseases [RCV002860580]	uncertain significance	2	65001457	65001457	Human	1	name
156039224	CV2313715	single nucleotide variant	NM_003038.5(SLC1A4):c.924T>G (p.His308Gln)	Inborn genetic diseases [RCV002910499]	uncertain significance	2	65016563	65016563	Human	1	name
156002623	CV2396605	single nucleotide variant	NM_003038.5(SLC1A4):c.482C>T (p.Pro161Leu)	Inborn genetic diseases [RCV002734288]	uncertain significance	2	64990125	64990125	Human	1	name
243060606	CV2408606	single nucleotide variant	NM_003038.5(SLC1A4):c.442C>T (p.Leu148Phe)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV003136735]	uncertain significance	2	64990085	64990085	Human	1	name
243049670	CV2416983	single nucleotide variant	NM_003038.5(SLC1A4):c.917T>C (p.Val306Ala)	not specified [RCV003151655]	uncertain significance	2	65016556	65016556	Human		name
329846556	CV2523782	single nucleotide variant	NM_003038.5(SLC1A4):c.925G>T (p.Gly309Ter)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV003226072]	likely pathogenic	2	65016564	65016564	Human	1	name
11560213	CV259742	single nucleotide variant	NM_003038.5(SLC1A4):c.766G>A (p.Glu256Lys)	Inborn genetic diseases [RCV004955366]\|Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV000412571]\|not provided [RCV000505792]	pathogenic	2	65010729	65010729	Human	2	name
401885736	CV2774493	single nucleotide variant	NM_003038.5(SLC1A4):c.835A>G (p.Ser279Gly)	Inborn genetic diseases [RCV003351743]	uncertain significance	2	65016474	65016474	Human	1	name
405869618	CV2832108	single nucleotide variant	NM_003038.5(SLC1A4):c.407C>A (p.Ala136Glu)	not provided [RCV004573119]	pathogenic	2	64990050	64990050	Human		name
402472289	CV2912245	single nucleotide variant	NM_003038.5(SLC1A4):c.801G>A (p.Trp267Ter)	not provided [RCV003570763]	pathogenic	2	65016440	65016440	Human		name
405069681	CV2923912	deletion	NM_003038.5(SLC1A4):c.1123del (p.Ala375fs)	not provided [RCV003580910]	pathogenic	2	65018156	65018156	Human		name
402495595	CV2978705	single nucleotide variant	NM_003038.5(SLC1A4):c.404T>A (p.Leu135Ter)	not provided [RCV003714223]	pathogenic	2	64990047	64990047	Human		name
405105254	CV3139856	single nucleotide variant	NM_003038.5(SLC1A4):c.773C>T (p.Thr258Met)	not provided [RCV003835267]	likely benign	2	65010736	65010736	Human		name
405003757	CV3184495	single nucleotide variant	NM_003038.5(SLC1A4):c.344G>A (p.Gly115Asp)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV003883284]	likely pathogenic	2	64989987	64989987	Human	1	name
405712279	CV3314735	single nucleotide variant	NM_003038.5(SLC1A4):c.730G>A (p.Gly244Arg)	Inborn genetic diseases [RCV004448655]	uncertain significance	2	65010693	65010693	Human	1	name
405712287	CV3314736	single nucleotide variant	NM_003038.5(SLC1A4):c.802T>C (p.Tyr268His)	Inborn genetic diseases [RCV004448656]	uncertain significance	2	65016441	65016441	Human	1	name
407508882	CV3477302	single nucleotide variant	NM_003038.5(SLC1A4):c.721G>A (p.Gly241Ser)	Inborn genetic diseases [RCV004672190]	uncertain significance	2	65010684	65010684	Human	1	name
408366208	CV3516888	deletion	NM_003038.5(SLC1A4):c.1462del (p.Glu488fs)	SLC1A4-related disorder [RCV004755689]	uncertain significance	2	65021008	65021008	Human		name , trait , alternate_id
596931198	CV3531531	single nucleotide variant	NM_003038.5(SLC1A4):c.544A>C (p.Asn182His)	not provided [RCV004781093]	uncertain significance	2	65001464	65001464	Human		name
596931208	CV3531541	single nucleotide variant	NM_003038.5(SLC1A4):c.928G>A (p.Gly310Arg)	not provided [RCV004781103]	uncertain significance	2	65016567	65016567	Human		name
597709476	CV3596390	single nucleotide variant	NM_003038.5(SLC1A4):c.976T>C (p.Phe326Leu)	Inborn genetic diseases [RCV004957877]	uncertain significance	2	65016615	65016615	Human	1	name
597639496	CV3596392	single nucleotide variant	NM_003038.5(SLC1A4):c.722G>A (p.Gly241Asp)	Inborn genetic diseases [RCV004971232]	uncertain significance	2	65010685	65010685	Human	1	name
597709489	CV3596394	single nucleotide variant	NM_003038.5(SLC1A4):c.380G>A (p.Ser127Asn)	Inborn genetic diseases [RCV004957879]	uncertain significance	2	64990023	64990023	Human	1	name
598200103	CV3921780	single nucleotide variant	NM_003038.5(SLC1A4):c.484C>T (p.Pro162Ser)	Inborn genetic diseases [RCV005268492]	uncertain significance	2	64990127	64990127	Human	1	name
14397123	CV612612	single nucleotide variant	NM_003038.5(SLC1A4):c.745C>T (p.Arg249Cys)	not provided [RCV000762269]	uncertain significance	2	65010708	65010708	Human		name
21066987	CV795263	single nucleotide variant	NM_003038.5(SLC1A4):c.571T>C (p.Tyr191His)	not provided [RCV000997153]	uncertain significance	2	65003953	65003953	Human		name
127308930	CV1154192	single nucleotide variant	NM_003038.5(SLC1A4):c.1195G>A (p.Val399Ile)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV001807405]\|not provided [RCV001517691]	benign	2	65018231	65018231	Human	1	name
151796143	CV1352397	single nucleotide variant	NM_003038.5(SLC1A4):c.1214A>G (p.Gln405Arg)	not provided [RCV001876957]	uncertain significance	2	65018250	65018250	Human		name
151805537	CV1359355	single nucleotide variant	NM_003038.5(SLC1A4):c.1442C>G (p.Ala481Gly)	not provided [RCV002028489]	uncertain significance	2	65020989	65020989	Human		name
151781613	CV1369688	single nucleotide variant	NM_003038.5(SLC1A4):c.1273G>A (p.Ala425Thr)	Inborn genetic diseases [RCV002556394]\|not provided [RCV001930493]	uncertain significance	2	65018588	65018588	Human	1	name
151742370	CV1390862	single nucleotide variant	NM_003038.5(SLC1A4):c.1379C>T (p.Thr460Met)	not provided [RCV001985359]	uncertain significance	2	65020926	65020926	Human		name
151825596	CV1453000	single nucleotide variant	NM_003038.5(SLC1A4):c.1580C>A (p.Ser527Tyr)	not provided [RCV002050224]	uncertain significance	2	65021127	65021127	Human		name
151742193	CV1470221	single nucleotide variant	NM_003038.5(SLC1A4):c.1152C>G (p.Ile384Met)	not provided [RCV001871124]	uncertain significance	2	65018188	65018188	Human		name
151746368	CV1485186	single nucleotide variant	NM_003038.5(SLC1A4):c.1499G>C (p.Cys500Ser)	not provided [RCV002006351]	uncertain significance	2	65021046	65021046	Human		name
151856174	CV1487473	single nucleotide variant	NM_003038.5(SLC1A4):c.1000G>A (p.Ala334Thr)	not provided [RCV001923423]	uncertain significance	2	65016639	65016639	Human		name
151828713	CV1489176	single nucleotide variant	NM_003038.5(SLC1A4):c.1456G>C (p.Glu486Gln)	Inborn genetic diseases [RCV002550297]\|not provided [RCV001934847]	uncertain significance	2	65021003	65021003	Human	1	name
151861332	CV1511235	single nucleotide variant	NM_003038.5(SLC1A4):c.1040C>T (p.Ala347Val)	not provided [RCV001959261]	uncertain significance	2	65018076	65018076	Human		name
152982529	CV1677459	single nucleotide variant	NM_003038.5(SLC1A4):c.1370G>A (p.Arg457Gln)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV002249168]\|not provided [RCV003094016]	likely pathogenic\|uncertain significance	2	65020917	65020917	Human	1	name
155699255	CV1777402	single nucleotide variant	NM_003038.5(SLC1A4):c.1109T>G (p.Ile370Ser)	not provided [RCV002295518]	uncertain significance	2	65018145	65018145	Human		name
156281820	CV1896840	single nucleotide variant	NM_003038.5(SLC1A4):c.1123G>T (p.Ala375Ser)	Inborn genetic diseases [RCV003087143]\|not provided [RCV003090409]	uncertain significance	2	65018159	65018159	Human	1	name
156107584	CV1903671	single nucleotide variant	NM_003038.5(SLC1A4):c.1267G>A (p.Val423Met)	not provided [RCV003080841]	uncertain significance	2	65018582	65018582	Human		name
156289277	CV1926424	single nucleotide variant	NM_003038.5(SLC1A4):c.1207G>A (p.Ala403Thr)	not provided [RCV002628744]	uncertain significance	2	65018243	65018243	Human		name
156446948	CV1948636	single nucleotide variant	NM_003038.5(SLC1A4):c.1169C>G (p.Ala390Gly)	not provided [RCV003118470]	uncertain significance	2	65018205	65018205	Human		name
156286308	CV1964606	single nucleotide variant	NM_003038.5(SLC1A4):c.1010C>T (p.Ala337Val)	not provided [RCV002577651]	uncertain significance	2	65016649	65016649	Human		name
155967989	CV1967884	single nucleotide variant	NM_003038.5(SLC1A4):c.1231G>A (p.Val411Met)	not provided [RCV002617044]	uncertain significance	2	65018546	65018546	Human		name
156390794	CV1991213	single nucleotide variant	NM_003038.5(SLC1A4):c.1517C>T (p.Thr506Ile)	not provided [RCV002634968]	uncertain significance	2	65021064	65021064	Human		name
156243908	CV1996476	single nucleotide variant	NM_003038.5(SLC1A4):c.1507G>C (p.Glu503Gln)	not provided [RCV002668020]	uncertain significance	2	65021054	65021054	Human		name
156376785	CV2000371	single nucleotide variant	NM_003038.5(SLC1A4):c.1505C>A (p.Ser502Tyr)	not provided [RCV002653356]	uncertain significance	2	65021052	65021052	Human		name
156213212	CV2018972	single nucleotide variant	NM_003038.5(SLC1A4):c.1546G>A (p.Ala516Thr)	not provided [RCV002700707]	uncertain significance	2	65021093	65021093	Human		name
156346236	CV2051902	single nucleotide variant	NM_003038.5(SLC1A4):c.1580C>G (p.Ser527Cys)	not provided [RCV002811482]	uncertain significance	2	65021127	65021127	Human		name
156322504	CV2134245	single nucleotide variant	NM_003038.5(SLC1A4):c.1181C>T (p.Ala394Val)	not provided [RCV002963306]	uncertain significance	2	65018217	65018217	Human		name
156196310	CV2158946	single nucleotide variant	NM_003038.5(SLC1A4):c.1095G>T (p.Arg365Ser)	not provided [RCV003041815]	uncertain significance	2	65018131	65018131	Human		name
156325565	CV2195430	single nucleotide variant	NM_003038.5(SLC1A4):c.1462G>A (p.Glu488Lys)	Inborn genetic diseases [RCV002672683]	uncertain significance	2	65021009	65021009	Human	1	name
156233849	CV2227796	single nucleotide variant	NM_003038.5(SLC1A4):c.1028G>A (p.Cys343Tyr)	Inborn genetic diseases [RCV002712936]	uncertain significance	2	65016667	65016667	Human	1	name
156080561	CV2301014	single nucleotide variant	NM_003038.5(SLC1A4):c.1168G>A (p.Ala390Thr)	Inborn genetic diseases [RCV002887419]	uncertain significance	2	65018204	65018204	Human	1	name
401795977	CV2740044	single nucleotide variant	NM_003038.5(SLC1A4):c.1120G>A (p.Gly374Arg)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV003320284]	likely pathogenic	2	65018156	65018156	Human	1	name
401855416	CV2752913	single nucleotide variant	NM_003038.5(SLC1A4):c.1010C>A (p.Ala337Glu)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV003337967]	uncertain significance	2	65016649	65016649	Human	1	name
401964109	CV2845427	single nucleotide variant	NM_003038.5(SLC1A4):c.1280G>A (p.Gly427Glu)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV003484590]	uncertain significance	2	65018595	65018595	Human	1	name
404999554	CV2851034	single nucleotide variant	NM_003038.5(SLC1A4):c.1040C>A (p.Ala347Glu)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV003493159]	uncertain significance	2	65018076	65018076	Human	1	name
405188055	CV2917789	single nucleotide variant	NM_003038.5(SLC1A4):c.1136T>C (p.Met379Thr)	not provided [RCV003564620]	uncertain significance	2	65018172	65018172	Human		name
405057145	CV3023329	single nucleotide variant	NM_003038.5(SLC1A4):c.1109T>C (p.Ile370Thr)	not provided [RCV003697345]	uncertain significance	2	65018145	65018145	Human		name
405242606	CV3042915	single nucleotide variant	NM_003038.5(SLC1A4):c.1031C>G (p.Ser344Cys)	not provided [RCV003719536]	uncertain significance	2	65016670	65016670	Human		name
405712242	CV3314729	single nucleotide variant	NM_003038.5(SLC1A4):c.1100G>T (p.Ser367Ile)	Inborn genetic diseases [RCV004448649]	uncertain significance	2	65018136	65018136	Human	1	name
405712254	CV3314731	single nucleotide variant	NM_003038.5(SLC1A4):c.1303C>G (p.Leu435Val)	Inborn genetic diseases [RCV004448651]	uncertain significance	2	65018618	65018618	Human	1	name
12738791	CV359063	single nucleotide variant	NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp)	Inborn genetic diseases [RCV000623105]\|Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV000412526]\|not provided [RCV000436990]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	2	65020916	65020916	Human	2	name
597938433	CV3852805	single nucleotide variant	NM_003038.5(SLC1A4):c.1456G>A (p.Glu486Lys)	not provided [RCV005187205]	uncertain significance	2	65021003	65021003	Human		name
598159288	CV3897059	single nucleotide variant	NM_003038.5(SLC1A4):c.1145C>G (p.Ala382Gly)	not provided [RCV005368033]	uncertain significance	2	65018181	65018181	Human		name
13215461	CV428085	single nucleotide variant	NM_003038.5(SLC1A4):c.1520C>A (p.Ser507Ter)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV001329024]\|not provided [RCV001857163]\|not specified [RCV000502543]	pathogenic\|uncertain significance	2	65021067	65021067	Human	1	name
13827661	CV578403	single nucleotide variant	NM_003038.5(SLC1A4):c.1316G>A (p.Gly439Glu)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV000714857]\|not provided [RCV001862009]	uncertain significance	2	65018631	65018631	Human	1	name
15153438	CV708329	single nucleotide variant	NM_003038.5(SLC1A4):c.1313T>C (p.Ile438Thr)	SLC1A4-related disorder [RCV003905951]\|not provided [RCV000968543]\|not specified [RCV001819082]	likely benign\|uncertain significance	2	65018628	65018628	Human	1	name , trait , alternate_id
15191697	CV719937	single nucleotide variant	NM_003038.5(SLC1A4):c.1450A>G (p.Lys484Glu)	not provided [RCV000888452]	benign	2	65020997	65020997	Human		name
21068962	CV788756	single nucleotide variant	NM_003038.5(SLC1A4):c.1357T>C (p.Trp453Arg)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV000985178]	likely pathogenic	2	65018672	65018672	Human	1	name
38468170	CV920466	single nucleotide variant	NM_003038.5(SLC1A4):c.1358G>A (p.Trp453Ter)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV001199378]	pathogenic	2	65018673	65018673	Human	1	name
38467973	CV920467	single nucleotide variant	NM_003038.5(SLC1A4):c.1141G>A (p.Gly381Arg)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV001199379]	pathogenic\|likely pathogenic	2	65018177	65018177	Human	1	name
243060605	CV2408605	deletion	NM_003038.5(SLC1A4):c.172_193del (p.Leu58fs)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV003136734]\|not provided [RCV003679161]	pathogenic\|uncertain significance	2	64989807	64989828	Human	1	name
405141678	CV2900856	deletion	NM_003038.5(SLC1A4):c.170_192del (p.Gly57fs)	not provided [RCV003560825]	pathogenic	2	64989811	64989833	Human		name
597949942	CV3768551	duplication	NM_003038.5(SLC1A4):c.234_237dup (p.Glu80fs)	not provided [RCV005120737]	pathogenic	2	64989875	64989876	Human		name
150496634	CV1271582	deletion	NM_001193493.2(SLC1A4):c.-134+633_-134+644del	not provided [RCV001688882]	benign	2	64989252	64989263	Human		name
156146999	CV2128265	microsatellite	NM_003038.5(SLC1A4):c.410TCA[2] (p.Ile139del)	not provided [RCV002928768]	uncertain significance	2	64990053	64990055	Human		name
402492620	CV2863271	microsatellite	NM_003038.5(SLC1A4):c.950_953del (p.Tyr317fs)	not provided [RCV003573167]	pathogenic	2	65016583	65016586	Human		name
12740650	CV359062	deletion	NM_003038.5(SLC1A4):c.944_945del (p.Leu315fs)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV000412627]	pathogenic	2	65016583	65016584	Human	1	name
597649774	CV3713639	deletion	NM_003038.5(SLC1A4):c.807_810del (p.Pro270fs)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV005026710]	likely pathogenic	2	65016445	65016448	Human	1	name
598204026	CV3896577	microsatellite	NM_003038.5(SLC1A4):c.805_808dup (p.Pro270fs)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome [RCV005356795]	likely pathogenic	2	65016439	65016440	Human		name
126732751	CV1019676	deletion	NM_003038.5(SLC1A4):c.1281_1284del (p.Val428fs)	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly [RCV001334108]	pathogenic	2	65018596	65018599	Human		name
126732746	CV1019675	insertion	NM_003038.5(SLC1A4):c.1277_1278insCC (p.Gly427fs)	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly [RCV001334107]	pathogenic	2	65018592	65018593	Human		name
405040729	CV3153816	deletion	NM_003038.5(SLC1A4):c.951_954del (p.Ile316_Tyr317insTer)	not provided [RCV003848683]	pathogenic	2	65016590	65016593	Human		name

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