Slc38a8 Variant Search Result - Rat Genome Database

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679 records found for search term Slc38a8

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150473235	CV1252374	single nucleotide variant	NM_001080442.3(SLC38A8):c.*9T>C	not provided [RCV001671576]	benign	16	84009775	84009775	Human		name
405280045	CV3191651	single nucleotide variant	NM_001080442.3(SLC38A8):c.-2-4C>G	SLC38A8-related disorder [RCV003919789]	likely benign	16	84042163	84042163	Human		name , trait , alternate_id
150471308	CV1280952	single nucleotide variant	NM_001080442.3(SLC38A8):c.190-5C>T	not provided [RCV001713161]	benign	16	84036905	84036905	Human		name
150533616	CV1300917	single nucleotide variant	NM_001080442.3(SLC38A8):c.633-5T>G	not provided [RCV001754777]	conflicting interpretations of pathogenicity\|uncertain significance	16	84029556	84029556	Human		name
152979827	CV1678219	single nucleotide variant	NM_001080442.3(SLC38A8):c.388+1G>T	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV002246723]\|not provided [RCV003774720]	pathogenic\|likely pathogenic	16	84036701	84036701	Human	1	name
153346393	CV1691083	single nucleotide variant	NM_001080442.3(SLC38A8):c.805+1G>A	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV002271983]	likely pathogenic	16	84022774	84022774	Human	1	name
153347545	CV1692090	single nucleotide variant	NM_001080442.3(SLC38A8):c.389-9C>G	not provided [RCV002273575]	conflicting interpretations of pathogenicity\|uncertain significance	16	84033478	84033478	Human		name
155953723	CV1915206	single nucleotide variant	NM_001080442.3(SLC38A8):c.388+4A>G	not provided [RCV002616363]	uncertain significance	16	84036698	84036698	Human		name
156374535	CV1933028	single nucleotide variant	NM_001080442.3(SLC38A8):c.805+9C>T	not provided [RCV002633712]	likely benign	16	84022766	84022766	Human		name
156239014	CV1992471	single nucleotide variant	NM_001080442.3(SLC38A8):c.189+7C>T	not provided [RCV002627066]	likely benign	16	84041962	84041962	Human		name
155938452	CV2071689	single nucleotide variant	NM_001080442.3(SLC38A8):c.530+1G>A	not provided [RCV002839247]	likely pathogenic	16	84033327	84033327	Human		name
156298275	CV2075726	single nucleotide variant	NM_001080442.3(SLC38A8):c.806-6C>G	not provided [RCV002857044]	likely benign	16	84017293	84017293	Human		name
156011250	CV2096209	single nucleotide variant	NM_001080442.3(SLC38A8):c.954-4C>T	SLC38A8-related disorder [RCV003963407]\|not provided [RCV002909121]	likely benign	16	84016731	84016731	Human	1	name , trait , alternate_id
402480296	CV2863872	single nucleotide variant	NM_001080442.3(SLC38A8):c.531-7G>T	not provided [RCV003543896]	likely benign	16	84031975	84031975	Human		name
405218803	CV2873596	single nucleotide variant	NM_001080442.3(SLC38A8):c.531-7G>A	not provided [RCV003553465]	likely benign	16	84031975	84031975	Human		name
402507667	CV2880790	single nucleotide variant	NM_001080442.3(SLC38A8):c.953+8C>G	SLC38A8-related disorder [RCV003919275]\|not provided [RCV003546438]	likely benign	16	84017132	84017132	Human	1	name , trait , alternate_id
405221659	CV2884332	single nucleotide variant	NM_001080442.3(SLC38A8):c.190-4G>A	not provided [RCV003553849]	likely benign	16	84036904	84036904	Human		name
405224843	CV2885535	single nucleotide variant	NM_001080442.3(SLC38A8):c.691-4A>G	not provided [RCV003554430]	likely benign	16	84022893	84022893	Human		name
405223534	CV2908526	single nucleotide variant	NM_001080442.3(SLC38A8):c.953+7C>G	not provided [RCV003568696]	likely benign	16	84017133	84017133	Human		name
402478546	CV2909950	single nucleotide variant	NM_001080442.3(SLC38A8):c.806-1G>T	not provided [RCV003571816]	likely pathogenic	16	84017288	84017288	Human		name
402465877	CV2913878	single nucleotide variant	NM_001080442.3(SLC38A8):c.806-1G>A	not provided [RCV003569324]	likely pathogenic	16	84017288	84017288	Human		name
405188021	CV2917786	single nucleotide variant	NM_001080442.3(SLC38A8):c.805+6G>A	not provided [RCV003564617]	likely benign	16	84022769	84022769	Human		name
405066864	CV2937243	single nucleotide variant	NM_001080442.3(SLC38A8):c.388+7A>T	not provided [RCV003663684]	likely benign	16	84036695	84036695	Human		name
405065842	CV2940028	single nucleotide variant	NM_001080442.3(SLC38A8):c.953+8C>T	not provided [RCV003659091]	likely benign	16	84017132	84017132	Human		name
405144989	CV2942315	single nucleotide variant	NM_001080442.3(SLC38A8):c.806-7C>T	not provided [RCV003669588]	likely benign	16	84017294	84017294	Human		name
405145020	CV2942319	single nucleotide variant	NM_001080442.3(SLC38A8):c.953+7C>T	not provided [RCV003669591]	likely benign	16	84017133	84017133	Human		name
405130260	CV2953528	single nucleotide variant	NM_001080442.3(SLC38A8):c.805+7C>T	not provided [RCV003672277]	likely benign	16	84022768	84022768	Human		name
405119288	CV2955865	single nucleotide variant	NM_001080442.3(SLC38A8):c.691-7C>T	not provided [RCV003671215]	likely benign	16	84022896	84022896	Human		name
405143607	CV2958815	single nucleotide variant	NM_001080442.3(SLC38A8):c.954-7C>G	not provided [RCV003673349]	likely benign	16	84016734	84016734	Human		name
405143844	CV2959005	single nucleotide variant	NM_001080442.3(SLC38A8):c.953+2T>G	not provided [RCV003673465]	likely pathogenic	16	84017138	84017138	Human		name
405133271	CV2959243	single nucleotide variant	NM_001080442.3(SLC38A8):c.530+9T>G	not provided [RCV003668510]	likely benign	16	84033319	84033319	Human		name
405149554	CV2960249	single nucleotide variant	NM_001080442.3(SLC38A8):c.530+7G>C	not provided [RCV003669908]	likely benign	16	84033321	84033321	Human		name
405146766	CV2962608	single nucleotide variant	NM_001080442.3(SLC38A8):c.632+7C>T	not provided [RCV003673621]	likely benign	16	84031860	84031860	Human		name
405231358	CV2964510	single nucleotide variant	NM_001080442.3(SLC38A8):c.633-8G>C	not provided [RCV003682239]	likely benign	16	84029559	84029559	Human		name
405244816	CV2968333	single nucleotide variant	NM_001080442.3(SLC38A8):c.690+7T>G	not provided [RCV003684907]	likely benign	16	84029487	84029487	Human		name
405212960	CV2971093	single nucleotide variant	NM_001080442.3(SLC38A8):c.954-4C>G	not provided [RCV003679586]	likely benign	16	84016731	84016731	Human		name
405189261	CV2974240	single nucleotide variant	NM_001080442.3(SLC38A8):c.189+7C>G	not provided [RCV003677007]	likely benign	16	84041962	84041962	Human		name
402496027	CV2978656	single nucleotide variant	NM_001080442.3(SLC38A8):c.805+2T>C	not provided [RCV003714203]	likely pathogenic	16	84022773	84022773	Human		name
405240531	CV2990013	single nucleotide variant	NM_001080442.3(SLC38A8):c.632+8T>G	not provided [RCV003683868]	likely benign	16	84031859	84031859	Human		name
402516457	CV2992207	single nucleotide variant	NM_001080442.3(SLC38A8):c.633-1G>T	not provided [RCV003689969]	likely pathogenic	16	84029552	84029552	Human		name
402486694	CV2999079	single nucleotide variant	NM_001080442.3(SLC38A8):c.806-2A>G	not provided [RCV003687125]	likely pathogenic	16	84017289	84017289	Human		name
405125891	CV3017272	single nucleotide variant	NM_001080442.3(SLC38A8):c.691-1G>C	not provided [RCV003701231]	likely pathogenic	16	84022890	84022890	Human		name
405158329	CV3024793	single nucleotide variant	NM_001080442.3(SLC38A8):c.389-1G>A	not provided [RCV003703786]	likely pathogenic	16	84033470	84033470	Human		name
405219059	CV3034929	single nucleotide variant	NM_001080442.3(SLC38A8):c.388+8C>G	not provided [RCV003709654]	likely benign	16	84036694	84036694	Human		name
405040689	CV3063942	single nucleotide variant	NM_001080442.3(SLC38A8):c.388+1G>A	not provided [RCV003739895]	likely pathogenic	16	84036701	84036701	Human		name
405200671	CV3066777	single nucleotide variant	NM_001080442.3(SLC38A8):c.189+1G>A	not provided [RCV003730742]	likely pathogenic	16	84041968	84041968	Human		name
405214129	CV3078387	single nucleotide variant	NM_001080442.3(SLC38A8):c.954-2A>C	not provided [RCV003732409]	likely pathogenic	16	84016729	84016729	Human		name
405168960	CV3078969	single nucleotide variant	NM_001080442.3(SLC38A8):c.954-7C>T	not provided [RCV003727591]	likely benign	16	84016734	84016734	Human		name
405190118	CV3121382	single nucleotide variant	NM_001080442.3(SLC38A8):c.190-6C>G	not provided [RCV003820838]	likely benign	16	84036906	84036906	Human		name
405152699	CV3123382	single nucleotide variant	NM_001080442.3(SLC38A8):c.190-4G>T	not provided [RCV003817615]	likely benign	16	84036904	84036904	Human		name
405092903	CV3134603	single nucleotide variant	NM_001080442.3(SLC38A8):c.633-5T>C	not provided [RCV003834949]	likely benign	16	84029556	84029556	Human		name
405215514	CV3143196	single nucleotide variant	NM_001080442.3(SLC38A8):c.805+8C>T	not provided [RCV003846359]	likely benign	16	84022767	84022767	Human		name
405172338	CV3150159	single nucleotide variant	NM_001080442.3(SLC38A8):c.530+2T>C	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV005015033]\|not provided [RCV003841630]	likely pathogenic	16	84033326	84033326	Human	1	name
405230029	CV3153809	single nucleotide variant	NM_001080442.3(SLC38A8):c.953+1G>C	not provided [RCV003848676]	likely pathogenic	16	84017139	84017139	Human		name
405234487	CV3155528	single nucleotide variant	NM_001080442.3(SLC38A8):c.633-2A>C	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV005015043]\|not provided [RCV003853506]	likely pathogenic	16	84029553	84029553	Human	1	name
405187346	CV3156474	single nucleotide variant	NM_001080442.3(SLC38A8):c.632+7C>G	not provided [RCV003859352]	likely benign	16	84031860	84031860	Human		name
402473683	CV3172114	single nucleotide variant	NM_001080442.3(SLC38A8):c.388+9C>T	not provided [RCV003874717]	likely benign	16	84036693	84036693	Human		name
405866572	CV3400984	single nucleotide variant	NM_001080442.3(SLC38A8):c.388+1G>C	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV004577099]	likely pathogenic	16	84036701	84036701	Human	1	name
11634429	CV354177	single nucleotide variant	NM_001080442.3(SLC38A8):c.806-3C>G	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV000408871]	likely pathogenic	16	84017290	84017290	Human	1	name
597950736	CV3756313	single nucleotide variant	NM_001080442.3(SLC38A8):c.633-7T>C	not provided [RCV005079370]	likely benign	16	84029558	84029558	Human		name
597952668	CV3765701	single nucleotide variant	NM_001080442.3(SLC38A8):c.190-4G>C	not provided [RCV005121345]	likely benign	16	84036904	84036904	Human		name
12849696	CV377829	single nucleotide variant	NM_001080442.3(SLC38A8):c.388+5G>A	Leber congenital amaurosis [RCV000515654]\|not provided [RCV000434287]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	16	84036697	84036697	Human	1	name
597956374	CV3792389	single nucleotide variant	NM_001080442.3(SLC38A8):c.806-5T>A	not provided [RCV005137276]	likely benign	16	84017292	84017292	Human		name
597915472	CV3833998	single nucleotide variant	NM_001080442.3(SLC38A8):c.806-9C>T	not provided [RCV005183357]	likely benign	16	84017296	84017296	Human		name
15181892	CV744876	single nucleotide variant	NM_001080442.3(SLC38A8):c.691-9G>A	not provided [RCV000907691]	likely benign	16	84022898	84022898	Human		name
15161748	CV778222	single nucleotide variant	NM_001080442.3(SLC38A8):c.190-9T>G	not provided [RCV000947729]	benign	16	84036909	84036909	Human		name
15200764	CV778295	single nucleotide variant	NM_001080442.3(SLC38A8):c.190-8C>T	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV002502982]\|not provided [RCV000957424]	benign\|likely benign	16	84036908	84036908	Human	1	name
40903121	CV976731	single nucleotide variant	NM_001080442.3(SLC38A8):c.632+1G>A	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV001270484]	pathogenic	16	84031866	84031866	Human	1	name
126740994	CV1021535	single nucleotide variant	NM_001080442.3(SLC38A8):c.1215-2A>T	Foveal hypoplasia 2 [RCV001336142]	pathogenic	16	84009879	84009879	Human		name
150486996	CV1251449	single nucleotide variant	NM_001080442.3(SLC38A8):c.388+69G>T	not provided [RCV001674120]	benign	16	84036633	84036633	Human		name
150444371	CV1266521	single nucleotide variant	NM_001080442.3(SLC38A8):c.633-59C>T	not provided [RCV001690957]	benign	16	84029610	84029610	Human		name
150462359	CV1272999	single nucleotide variant	NM_001080442.3(SLC38A8):c.633-63C>G	not provided [RCV001693756]	benign	16	84029614	84029614	Human		name
151775163	CV1424232	single nucleotide variant	NM_001080442.3(SLC38A8):c.1214+2T>G	not provided [RCV002025739]	uncertain significance	16	84012999	84012999	Human		name
152028042	CV1521202	single nucleotide variant	NM_001080442.3(SLC38A8):c.1162+8C>T	not provided [RCV002085329]	likely benign	16	84016511	84016511	Human		name
152037315	CV1532422	single nucleotide variant	NM_001080442.3(SLC38A8):c.530+15G>C	not provided [RCV002125556]	likely benign	16	84033313	84033313	Human		name
152111392	CV1552416	single nucleotide variant	NM_001080442.3(SLC38A8):c.388+12C>T	not provided [RCV002134530]	likely benign	16	84036690	84036690	Human		name
152106771	CV1609693	single nucleotide variant	NM_001080442.3(SLC38A8):c.531-13G>A	not provided [RCV002116026]	benign	16	84031981	84031981	Human		name
156143857	CV1973737	single nucleotide variant	NM_001080442.3(SLC38A8):c.530+13A>G	not provided [RCV002593923]	likely benign	16	84033315	84033315	Human		name
156001941	CV2014792	single nucleotide variant	NM_001080442.3(SLC38A8):c.805+15A>T	not provided [RCV002690099]	likely benign	16	84022760	84022760	Human		name
329350154	CV2421559	single nucleotide variant	NM_001080442.3(SLC38A8):c.1214+1G>T	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV003159269]	uncertain significance	16	84013000	84013000	Human	1	name
11636519	CV275382	single nucleotide variant	NM_001080442.3(SLC38A8):c.189+11G>T	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV001808743]\|not provided [RCV001610787]\|not specified [RCV000268828]	benign	16	84041958	84041958	Human	1	name
402484899	CV2857505	single nucleotide variant	NM_001080442.3(SLC38A8):c.190-17C>A	not provided [RCV003544303]	likely benign	16	84036917	84036917	Human		name
402478524	CV2858251	single nucleotide variant	NM_001080442.3(SLC38A8):c.632+18G>A	not provided [RCV003543665]	likely benign	16	84031849	84031849	Human		name
405211658	CV2867904	single nucleotide variant	NM_001080442.3(SLC38A8):c.189+13G>C	not provided [RCV003552585]	likely benign	16	84041956	84041956	Human		name
405211968	CV2868108	single nucleotide variant	NM_001080442.3(SLC38A8):c.530+11G>A	not provided [RCV003552678]	likely benign	16	84033317	84033317	Human		name
405063880	CV2868431	single nucleotide variant	NM_001080442.3(SLC38A8):c.691-17C>A	not provided [RCV003548029]	likely benign	16	84022906	84022906	Human		name
405074088	CV2876575	single nucleotide variant	NM_001080442.3(SLC38A8):c.1214+9C>T	not provided [RCV003548558]	benign	16	84012992	84012992	Human		name
405218187	CV2897313	single nucleotide variant	NM_001080442.3(SLC38A8):c.632+16C>T	not provided [RCV003567935]	likely benign	16	84031851	84031851	Human		name
405133525	CV2901816	single nucleotide variant	NM_001080442.3(SLC38A8):c.1163-5T>C	not provided [RCV003560215]	likely benign	16	84013057	84013057	Human		name
405220348	CV2904121	single nucleotide variant	NM_001080442.3(SLC38A8):c.530+11G>C	not provided [RCV003568282]	likely benign	16	84033317	84033317	Human		name
405136190	CV2906851	single nucleotide variant	NM_001080442.3(SLC38A8):c.632+13G>T	not provided [RCV003560419]	likely benign	16	84031854	84031854	Human		name
402467768	CV2910503	single nucleotide variant	NM_001080442.3(SLC38A8):c.388+17G>T	not provided [RCV003569683]	likely benign	16	84036685	84036685	Human		name
402483958	CV2921831	single nucleotide variant	NM_001080442.3(SLC38A8):c.805+20C>G	not provided [RCV003572245]	likely benign	16	84022755	84022755	Human		name
405066752	CV2927500	single nucleotide variant	NM_001080442.3(SLC38A8):c.953+19G>T	not provided [RCV003580773]	likely benign	16	84017121	84017121	Human		name
402482321	CV2940753	single nucleotide variant	NM_001080442.3(SLC38A8):c.954-14G>C	not provided [RCV003659682]	likely benign	16	84016741	84016741	Human		name
405072408	CV2941145	single nucleotide variant	NM_001080442.3(SLC38A8):c.632+12G>C	not provided [RCV003664059]	likely benign	16	84031855	84031855	Human		name
405086412	CV2943082	single nucleotide variant	NM_001080442.3(SLC38A8):c.530+16C>G	not provided [RCV003664894]	likely benign	16	84033312	84033312	Human		name
405170448	CV2951118	single nucleotide variant	NM_001080442.3(SLC38A8):c.1163-2A>T	not provided [RCV003675274]	likely pathogenic	16	84013054	84013054	Human		name
405137094	CV2954378	single nucleotide variant	NM_001080442.3(SLC38A8):c.953+20G>T	not provided [RCV003672907]	likely benign	16	84017120	84017120	Human		name
405179354	CV2959896	single nucleotide variant	NM_001080442.3(SLC38A8):c.190-17C>T	not provided [RCV003676070]	likely benign	16	84036917	84036917	Human		name
405125332	CV2961585	single nucleotide variant	NM_001080442.3(SLC38A8):c.806-15C>T	not provided [RCV003667749]	likely benign	16	84017302	84017302	Human		name
405214863	CV2971492	single nucleotide variant	NM_001080442.3(SLC38A8):c.953+16G>T	not provided [RCV003679834]	likely benign	16	84017124	84017124	Human		name
405240930	CV2973927	single nucleotide variant	NM_001080442.3(SLC38A8):c.530+12G>A	not provided [RCV003683968]	likely benign	16	84033316	84033316	Human		name
405243294	CV2974835	single nucleotide variant	NM_001080442.3(SLC38A8):c.953+11G>A	not provided [RCV003684489]	likely benign	16	84017129	84017129	Human		name
405213039	CV2984100	single nucleotide variant	NM_001080442.3(SLC38A8):c.190-12C>G	not provided [RCV003708890]	likely benign	16	84036912	84036912	Human		name
405248554	CV2984831	single nucleotide variant	NM_001080442.3(SLC38A8):c.189+13G>A	not provided [RCV003721080]	likely benign	16	84041956	84041956	Human		name
405238779	CV2986745	single nucleotide variant	NM_001080442.3(SLC38A8):c.633-10C>G	not provided [RCV003683494]	likely benign	16	84029561	84029561	Human		name
402511738	CV2994839	single nucleotide variant	NM_001080442.3(SLC38A8):c.388+13A>G	not provided [RCV003689506]	likely benign	16	84036689	84036689	Human		name
405116768	CV2996561	duplication	NM_001080442.3(SLC38A8):c.1162+6dup	not provided [RCV003723389]	likely benign	16	84016512	84016513	Human		name
405239272	CV2996878	single nucleotide variant	NM_001080442.3(SLC38A8):c.632+13G>C	not provided [RCV003718735]	likely benign	16	84031854	84031854	Human		name
402520638	CV3000240	single nucleotide variant	NM_001080442.3(SLC38A8):c.953+19G>A	not provided [RCV003716338]	likely benign	16	84017121	84017121	Human		name
405001064	CV3005361	single nucleotide variant	NM_001080442.3(SLC38A8):c.189+16G>C	not provided [RCV003693115]	likely benign	16	84041953	84041953	Human		name
404981246	CV3006216	single nucleotide variant	NM_001080442.3(SLC38A8):c.806-16C>G	not provided [RCV003691194]	likely benign	16	84017303	84017303	Human		name
402525408	CV3011530	single nucleotide variant	NM_001080442.3(SLC38A8):c.190-18C>A	not provided [RCV003716644]	likely benign	16	84036918	84036918	Human		name
405116917	CV3020042	single nucleotide variant	NM_001080442.3(SLC38A8):c.531-14G>C	not provided [RCV003700237]	likely benign	16	84031982	84031982	Human		name
405064615	CV3020552	single nucleotide variant	NM_001080442.3(SLC38A8):c.531-15C>T	not provided [RCV003697795]	likely benign	16	84031983	84031983	Human		name
405149206	CV3024194	single nucleotide variant	NM_001080442.3(SLC38A8):c.806-19C>A	not provided [RCV003703087]	likely benign	16	84017306	84017306	Human		name
405182383	CV3024352	single nucleotide variant	NM_001080442.3(SLC38A8):c.953+18G>T	not provided [RCV003705587]	likely benign	16	84017122	84017122	Human		name
405137031	CV3028677	single nucleotide variant	NM_001080442.3(SLC38A8):c.189+12G>T	not provided [RCV003702128]	likely benign	16	84041957	84041957	Human		name
405061054	CV3029986	single nucleotide variant	NM_001080442.3(SLC38A8):c.530+11G>T	not provided [RCV003697664]	likely benign	16	84033317	84033317	Human		name
405119855	CV3030471	single nucleotide variant	NM_001080442.3(SLC38A8):c.531-19C>T	not provided [RCV003700490]	likely benign	16	84031987	84031987	Human		name
405153001	CV3031483	single nucleotide variant	NM_001080442.3(SLC38A8):c.690+16G>C	not provided [RCV003703368]	likely benign	16	84029478	84029478	Human		name
405199478	CV3032863	single nucleotide variant	NM_001080442.3(SLC38A8):c.189+18G>A	not provided [RCV003707228]	likely benign	16	84041951	84041951	Human		name
405072653	CV3034419	single nucleotide variant	NM_001080442.3(SLC38A8):c.806-19C>T	not provided [RCV003698352]	likely benign	16	84017306	84017306	Human		name
405223313	CV3035649	single nucleotide variant	NM_001080442.3(SLC38A8):c.805+17G>A	not provided [RCV003710243]	likely benign	16	84022758	84022758	Human		name
405197335	CV3037817	single nucleotide variant	NM_001080442.3(SLC38A8):c.953+12C>T	not provided [RCV003707024]	likely benign	16	84017128	84017128	Human		name
405222298	CV3038594	single nucleotide variant	NM_001080442.3(SLC38A8):c.1214+9C>A	not provided [RCV003710056]	likely benign	16	84012992	84012992	Human		name
405202430	CV3041408	single nucleotide variant	NM_001080442.3(SLC38A8):c.690+12A>G	not provided [RCV003707491]	likely benign	16	84029482	84029482	Human		name
405218913	CV3049129	single nucleotide variant	NM_001080442.3(SLC38A8):c.953+10G>T	not provided [RCV003732959]	likely benign	16	84017130	84017130	Human		name
405103630	CV3116241	single nucleotide variant	NM_001080442.3(SLC38A8):c.805+12C>T	not provided [RCV003811957]	likely benign	16	84022763	84022763	Human		name
405209677	CV3117354	single nucleotide variant	NM_001080442.3(SLC38A8):c.388+19C>T	not provided [RCV003823141]	likely benign	16	84036683	84036683	Human		name
405190777	CV3118042	single nucleotide variant	NM_001080442.3(SLC38A8):c.388+12C>G	not provided [RCV003820952]	likely benign	16	84036690	84036690	Human		name
405191878	CV3118084	single nucleotide variant	NM_001080442.3(SLC38A8):c.1163-9T>A	not provided [RCV003820994]	likely benign	16	84013061	84013061	Human		name
405010668	CV3118371	single nucleotide variant	NM_001080442.3(SLC38A8):c.389-14C>T	not provided [RCV003828801]	likely benign	16	84033483	84033483	Human		name
405096203	CV3119003	single nucleotide variant	NM_001080442.3(SLC38A8):c.691-14C>G	not provided [RCV003811454]	likely benign	16	84022903	84022903	Human		name
405180802	CV3119790	single nucleotide variant	NM_001080442.3(SLC38A8):c.633-15C>T	not provided [RCV003819883]	likely benign	16	84029566	84029566	Human		name
404976993	CV3123722	single nucleotide variant	NM_001080442.3(SLC38A8):c.953+16G>C	not provided [RCV003825148]	likely benign	16	84017124	84017124	Human		name
404997247	CV3123779	single nucleotide variant	NM_001080442.3(SLC38A8):c.388+18A>G	not provided [RCV003827685]	likely benign	16	84036684	84036684	Human		name
405185600	CV3124227	single nucleotide variant	NM_001080442.3(SLC38A8):c.806-18A>G	not provided [RCV003820426]	likely benign	16	84017305	84017305	Human		name
405138344	CV3125383	single nucleotide variant	NM_001080442.3(SLC38A8):c.953+18G>C	not provided [RCV003816490]	likely benign	16	84017122	84017122	Human		name
405139380	CV3125462	single nucleotide variant	NM_001080442.3(SLC38A8):c.953+18G>A	not provided [RCV003816569]	likely benign	16	84017122	84017122	Human		name
405125166	CV3126424	single nucleotide variant	NM_001080442.3(SLC38A8):c.389-19C>G	not provided [RCV003815176]	likely benign	16	84033488	84033488	Human		name
402523594	CV3127030	single nucleotide variant	NM_001080442.3(SLC38A8):c.805+18C>T	not provided [RCV003824948]	likely benign	16	84022757	84022757	Human		name
405010727	CV3127961	single nucleotide variant	NM_001080442.3(SLC38A8):c.691-19G>A	not provided [RCV003828841]	likely benign	16	84022908	84022908	Human		name
405139174	CV3130774	single nucleotide variant	NM_001080442.3(SLC38A8):c.189+11G>A	not provided [RCV003839008]	likely benign	16	84041958	84041958	Human		name
405121581	CV3131532	single nucleotide variant	NM_001080442.3(SLC38A8):c.189+10C>T	not provided [RCV003837396]	likely benign	16	84041959	84041959	Human		name
404993138	CV3132350	single nucleotide variant	NM_001080442.3(SLC38A8):c.953+15A>G	not provided [RCV003827288]	likely benign	16	84017125	84017125	Human		name
405114648	CV3133816	single nucleotide variant	NM_001080442.3(SLC38A8):c.954-11G>A	not provided [RCV003836611]	likely benign	16	84016738	84016738	Human		name
405019479	CV3135374	single nucleotide variant	NM_001080442.3(SLC38A8):c.691-17C>T	not provided [RCV003829645]	likely benign	16	84022906	84022906	Human		name
404988270	CV3135539	single nucleotide variant	NM_001080442.3(SLC38A8):c.1162+7C>A	not provided [RCV003826834]	likely benign	16	84016512	84016512	Human		name
405084254	CV3137571	single nucleotide variant	NM_001080442.3(SLC38A8):c.190-11C>T	not provided [RCV003834280]	likely benign	16	84036911	84036911	Human		name
405145192	CV3141431	single nucleotide variant	NM_001080442.3(SLC38A8):c.388+16G>T	not provided [RCV003839548]	likely benign	16	84036686	84036686	Human		name
405227181	CV3142552	single nucleotide variant	NM_001080442.3(SLC38A8):c.806-18A>T	not provided [RCV003848091]	likely benign	16	84017305	84017305	Human		name
405213755	CV3142772	single nucleotide variant	NM_001080442.3(SLC38A8):c.954-20G>T	not provided [RCV003846130]	likely benign	16	84016747	84016747	Human		name
405218775	CV3143791	single nucleotide variant	NM_001080442.3(SLC38A8):c.953+17T>C	not provided [RCV003846761]	likely benign	16	84017123	84017123	Human		name
405231478	CV3144453	single nucleotide variant	NM_001080442.3(SLC38A8):c.388+15G>A	not provided [RCV003852906]	likely benign	16	84036687	84036687	Human		name
405209410	CV3145804	single nucleotide variant	NM_001080442.3(SLC38A8):c.531-13G>T	not provided [RCV003845534]	likely benign	16	84031981	84031981	Human		name
405188344	CV3149186	single nucleotide variant	NM_001080442.3(SLC38A8):c.691-16G>A	not provided [RCV003843112]	likely benign	16	84022905	84022905	Human		name
405166727	CV3149451	single nucleotide variant	NM_001080442.3(SLC38A8):c.531-14G>A	not provided [RCV003841113]	likely benign	16	84031982	84031982	Human		name
405195336	CV3150222	single nucleotide variant	NM_001080442.3(SLC38A8):c.190-12C>T	not provided [RCV003843757]	likely benign	16	84036912	84036912	Human		name
405158556	CV3152589	single nucleotide variant	NM_001080442.3(SLC38A8):c.953+14C>T	not provided [RCV003840516]	likely benign	16	84017126	84017126	Human		name
405142606	CV3155357	single nucleotide variant	NM_001080442.3(SLC38A8):c.1215-8C>T	not provided [RCV003855595]	likely benign	16	84009885	84009885	Human		name
405190259	CV3156982	single nucleotide variant	NM_001080442.3(SLC38A8):c.190-18C>T	not provided [RCV003859670]	likely benign	16	84036918	84036918	Human		name
405157074	CV3163481	single nucleotide variant	NM_001080442.3(SLC38A8):c.190-17C>G	not provided [RCV003856727]	likely benign	16	84036917	84036917	Human		name
405255502	CV3172439	single nucleotide variant	NM_001080442.3(SLC38A8):c.189+11G>C	not provided [RCV003872377]	likely benign	16	84041958	84041958	Human		name
402521063	CV3179455	single nucleotide variant	NM_001080442.3(SLC38A8):c.805+13C>A	not provided [RCV003879707]	likely benign	16	84022762	84022762	Human		name
405228410	CV3180300	duplication	NM_001080442.3(SLC38A8):c.1215-6dup	not provided [RCV003864720]	likely benign	16	84009882	84009883	Human		name
405002553	CV3184022	single nucleotide variant	NM_001080442.3(SLC38A8):c.389-16C>T	not provided [RCV003882605]	likely benign	16	84033485	84033485	Human		name
405002696	CV3184028	single nucleotide variant	NM_001080442.3(SLC38A8):c.389-13G>A	not provided [RCV003882611]	likely benign	16	84033482	84033482	Human		name
408391691	CV3521450	single nucleotide variant	NM_001080442.3(SLC38A8):c.1163-3C>A	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV004763270]	uncertain significance	16	84013055	84013055	Human	1	name
597846630	CV3746266	single nucleotide variant	NM_001080442.3(SLC38A8):c.530+19C>G	not provided [RCV005060084]	likely benign	16	84033309	84033309	Human		name
597909387	CV3749523	single nucleotide variant	NM_001080442.3(SLC38A8):c.805+19A>C	not provided [RCV005073371]	likely benign	16	84022756	84022756	Human		name
597876256	CV3766587	single nucleotide variant	NM_001080442.3(SLC38A8):c.805+17G>T	not provided [RCV005108527]	likely benign	16	84022758	84022758	Human		name
597875379	CV3775616	single nucleotide variant	NM_001080442.3(SLC38A8):c.531-15C>G	not provided [RCV005123347]	likely benign	16	84031983	84031983	Human		name
597872474	CV3805330	single nucleotide variant	NM_001080442.3(SLC38A8):c.1162+7C>T	not provided [RCV005148608]	likely benign	16	84016512	84016512	Human		name
597935876	CV3811416	single nucleotide variant	NM_001080442.3(SLC38A8):c.531-14G>T	not provided [RCV005157931]	likely benign	16	84031982	84031982	Human		name
616934933	CV4009164	single nucleotide variant	NM_001080442.3(SLC38A8):c.1214+1G>C	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV005402337]	likely pathogenic	16	84013000	84013000	Human	1	name
150501533	CV1213381	single nucleotide variant	NM_001080442.3(SLC38A8):c.531-137T>C	not provided [RCV001594793]	benign	16	84032105	84032105	Human		name
150439633	CV1221333	single nucleotide variant	NM_001080442.3(SLC38A8):c.388+271T>C	not provided [RCV001610028]	benign	16	84036431	84036431	Human		name
150512225	CV1228454	single nucleotide variant	NM_001080442.3(SLC38A8):c.633-264C>T	not provided [RCV001637586]	benign	16	84029815	84029815	Human		name
150498660	CV1235603	single nucleotide variant	NM_001080442.3(SLC38A8):c.190-123T>C	not provided [RCV001656286]	benign	16	84037023	84037023	Human		name
150491969	CV1238089	single nucleotide variant	NM_001080442.3(SLC38A8):c.691-245C>T	not provided [RCV001654935]	benign	16	84023134	84023134	Human		name
150477748	CV1240078	single nucleotide variant	NM_001080442.3(SLC38A8):c.388+164G>C	not provided [RCV001652256]	benign	16	84036538	84036538	Human		name
150504516	CV1255254	single nucleotide variant	NM_001080442.3(SLC38A8):c.531-147C>T	not provided [RCV001677701]	benign	16	84032115	84032115	Human		name
150500802	CV1256169	single nucleotide variant	NM_001080442.3(SLC38A8):c.632+265T>A	not provided [RCV001676793]	benign	16	84031602	84031602	Human		name
150449746	CV1260862	single nucleotide variant	NM_001080442.3(SLC38A8):c.388+254G>C	not provided [RCV001680531]	benign	16	84036448	84036448	Human		name
152101731	CV1621956	single nucleotide variant	NM_001080442.3(SLC38A8):c.1215-10C>T	not provided [RCV002115431]	likely benign	16	84009887	84009887	Human		name
402514997	CV2855345	single nucleotide variant	NM_001080442.3(SLC38A8):c.1162+12G>T	not provided [RCV003547184]	likely benign	16	84016507	84016507	Human		name
402521594	CV2867330	single nucleotide variant	NM_001080442.3(SLC38A8):c.1215-10C>A	not provided [RCV003547740]	likely benign	16	84009887	84009887	Human		name
405239407	CV2886069	single nucleotide variant	NM_001080442.3(SLC38A8):c.1214+10C>G	not provided [RCV003557018]	likely benign	16	84012991	84012991	Human		name
405027342	CV2890033	single nucleotide variant	NM_001080442.3(SLC38A8):c.1162+16T>A	not provided [RCV003578077]	likely benign	16	84016503	84016503	Human		name
405146714	CV2949939	deletion	NM_001080442.3(SLC38A8):c.1163-15del	not provided [RCV003669660]	likely benign	16	84013067	84013067	Human		name
405161333	CV2955102	single nucleotide variant	NM_001080442.3(SLC38A8):c.1163-13G>C	not provided [RCV003670674]	likely benign	16	84013065	84013065	Human		name
405228218	CV2963678	single nucleotide variant	NM_001080442.3(SLC38A8):c.1215-15T>A	not provided [RCV003681728]	likely benign	16	84009892	84009892	Human		name
405228244	CV2980513	single nucleotide variant	NM_001080442.3(SLC38A8):c.1163-20T>C	not provided [RCV003710985]	likely benign	16	84013072	84013072	Human		name
405022668	CV3002654	single nucleotide variant	NM_001080442.3(SLC38A8):c.1162+10C>G	not provided [RCV003694900]	likely benign	16	84016509	84016509	Human		name
405160870	CV3021436	single nucleotide variant	NM_001080442.3(SLC38A8):c.1163-17C>G	not provided [RCV003703901]	likely benign	16	84013069	84013069	Human		name
405176966	CV3023520	single nucleotide variant	NM_001080442.3(SLC38A8):c.1163-19G>T	not provided [RCV003705005]	likely benign	16	84013071	84013071	Human		name
405153476	CV3027906	single nucleotide variant	NM_001080442.3(SLC38A8):c.1215-16T>C	not provided [RCV003703451]	likely benign	16	84009893	84009893	Human		name
405254028	CV3045186	deletion	NM_001080442.3(SLC38A8):c.1162+10del	not provided [RCV003722790]	benign	16	84016509	84016509	Human		name
405115991	CV3119228	single nucleotide variant	NM_001080442.3(SLC38A8):c.1162+13C>T	not provided [RCV003814264]	likely benign	16	84016506	84016506	Human		name
405177455	CV3119328	single nucleotide variant	NM_001080442.3(SLC38A8):c.1214+16A>G	not provided [RCV003819613]	likely benign	16	84012985	84012985	Human		name
405087115	CV3122064	single nucleotide variant	NM_001080442.3(SLC38A8):c.1163-13G>T	not provided [RCV003810819]	likely benign	16	84013065	84013065	Human		name
405168097	CV3125738	single nucleotide variant	NM_001080442.3(SLC38A8):c.1163-15C>T	not provided [RCV003818821]	likely benign	16	84013067	84013067	Human		name
405146349	CV3126517	single nucleotide variant	NM_001080442.3(SLC38A8):c.1163-12T>C	not provided [RCV003817244]	likely benign	16	84013064	84013064	Human		name
405136625	CV3130555	single nucleotide variant	NM_001080442.3(SLC38A8):c.1215-17G>T	not provided [RCV003838788]	likely benign	16	84009894	84009894	Human		name
404988813	CV3135621	single nucleotide variant	NM_001080442.3(SLC38A8):c.1163-16C>T	not provided [RCV003826916]	likely benign	16	84013068	84013068	Human		name
405025213	CV3139457	single nucleotide variant	NM_001080442.3(SLC38A8):c.1163-11C>T	not provided [RCV003830100]	likely benign	16	84013063	84013063	Human		name
405146278	CV3141517	single nucleotide variant	NM_001080442.3(SLC38A8):c.1215-13A>G	not provided [RCV003839634]	likely benign	16	84009890	84009890	Human		name
405214107	CV3143039	single nucleotide variant	NM_001080442.3(SLC38A8):c.1214+11C>T	not provided [RCV003846202]	likely benign	16	84012990	84012990	Human		name
405233897	CV3145121	single nucleotide variant	NM_001080442.3(SLC38A8):c.1214+12T>C	not provided [RCV003853378]	likely benign	16	84012989	84012989	Human		name
405072411	CV3145389	single nucleotide variant	NM_001080442.3(SLC38A8):c.1162+12G>C	not provided [RCV003850974]	likely benign	16	84016507	84016507	Human		name
405165011	CV3153202	single nucleotide variant	NM_001080442.3(SLC38A8):c.1215-10C>G	not provided [RCV003840937]	likely benign	16	84009887	84009887	Human		name
405084279	CV3167174	single nucleotide variant	NM_001080442.3(SLC38A8):c.1163-11C>G	not provided [RCV003851754]	likely benign	16	84013063	84013063	Human		name
404981483	CV3183522	single nucleotide variant	NM_001080442.3(SLC38A8):c.1163-15C>G	not provided [RCV003880545]	likely benign	16	84013067	84013067	Human		name
597865766	CV3742392	single nucleotide variant	NM_001080442.3(SLC38A8):c.1214+15G>C	not provided [RCV005068008]	likely benign	16	84012986	84012986	Human		name
597861979	CV3817706	single nucleotide variant	NM_001080442.3(SLC38A8):c.1163-17C>T	not provided [RCV005146892]	likely benign	16	84013069	84013069	Human		name
150433731	CV1230612	single nucleotide variant	NM_001080442.3(SLC38A8):c.1214+107G>A	not provided [RCV001643558]	benign	16	84012894	84012894	Human		name
150509090	CV1244992	single nucleotide variant	NM_001080442.3(SLC38A8):c.1214+194A>G	not provided [RCV001659243]	benign	16	84012807	84012807	Human		name
150483445	CV1245112	single nucleotide variant	NM_001080442.3(SLC38A8):c.1162+215A>C	not provided [RCV001653289]	benign	16	84016304	84016304	Human		name
150483729	CV1245159	single nucleotide variant	NM_001080442.3(SLC38A8):c.1214+116C>T	not provided [RCV001653336]	benign	16	84012885	84012885	Human		name
150438669	CV1264857	single nucleotide variant	NM_001080442.3(SLC38A8):c.1214+204C>G	not provided [RCV001678850]	benign	16	84012797	84012797	Human		name
150493138	CV1267085	single nucleotide variant	NM_001080442.3(SLC38A8):c.1214+174T>C	not provided [RCV001688112]	benign	16	84012827	84012827	Human		name
150451619	CV1276618	single nucleotide variant	NM_001080442.3(SLC38A8):c.1162+262T>C	not provided [RCV001708407]	benign	16	84016257	84016257	Human		name
150333334	CV1172904	microsatellite	NM_001080442.3(SLC38A8):c.531-232CAA[4]	not provided [RCV001539442]	benign	16	84032186	84032188	Human		name
405189269	CV3149476	single nucleotide variant	NM_001080442.3(SLC38A8):c.6G>A (p.Glu2=)	not provided [RCV003843202]	likely benign	16	84042152	84042152	Human		name
405240312	CV3060748	single nucleotide variant	NM_001080442.3(SLC38A8):c.27G>A (p.Arg9=)	not provided [RCV003737125]	likely benign	16	84042131	84042131	Human		name
150498530	CV1224152	deletion	NM_001080442.3(SLC38A8):c.805+53_805+54del	not provided [RCV001620265]	benign	16	84022721	84022722	Human		name
405226039	CV2882268	single nucleotide variant	NM_001080442.3(SLC38A8):c.84C>T (p.Gly28=)	not provided [RCV003554660]	likely benign	16	84042074	84042074	Human		name
405089682	CV2939693	single nucleotide variant	NM_001080442.3(SLC38A8):c.93C>T (p.Phe31=)	not provided [RCV003665200]	likely benign	16	84042065	84042065	Human		name
405151972	CV2950458	single nucleotide variant	NM_001080442.3(SLC38A8):c.57G>A (p.Thr19=)	not provided [RCV003670121]	likely benign	16	84042101	84042101	Human		name
402521102	CV3002414	single nucleotide variant	NM_001080442.3(SLC38A8):c.75C>T (p.Ser25=)	not provided [RCV003690187]	likely benign	16	84042083	84042083	Human		name
405221288	CV3032170	single nucleotide variant	NM_001080442.3(SLC38A8):c.66C>T (p.Ala22=)	not provided [RCV003709910]	likely benign	16	84042092	84042092	Human		name
405226667	CV3059260	single nucleotide variant	NM_001080442.3(SLC38A8):c.99C>T (p.Leu33=)	not provided [RCV003734069]	likely benign	16	84042059	84042059	Human		name
405186198	CV3124349	deletion	NM_001080442.3(SLC38A8):c.11del (p.Gln4fs)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV004796848]\|not provided [RCV003820548]	pathogenic	16	84042147	84042147	Human	1	name
405012208	CV3128171	deletion	NM_001080442.3(SLC38A8):c.805+20_805+34del	not provided [RCV003829051]	likely benign	16	84022741	84022755	Human		name
405224209	CV3142157	single nucleotide variant	NM_001080442.3(SLC38A8):c.54C>T (p.Ala18=)	not provided [RCV003847696]	likely benign	16	84042104	84042104	Human		name
405228524	CV3153347	single nucleotide variant	NM_001080442.3(SLC38A8):c.99C>G (p.Leu33=)	not provided [RCV003848411]	likely benign	16	84042059	84042059	Human		name
405223274	CV3158393	single nucleotide variant	NM_001080442.3(SLC38A8):c.78G>A (p.Ser26=)	not provided [RCV003863889]	likely benign	16	84042080	84042080	Human		name
405244645	CV3161554	single nucleotide variant	NM_001080442.3(SLC38A8):c.70C>T (p.Leu24=)	not provided [RCV003868267]	likely benign	16	84042088	84042088	Human		name
402496574	CV3179245	single nucleotide variant	NM_001080442.3(SLC38A8):c.30C>T (p.Gly10=)	not provided [RCV003877512]	likely benign	16	84042128	84042128	Human		name
596942568	CV3544163	single nucleotide variant	NM_001080442.3(SLC38A8):c.3G>A (p.Met1Ile)	not specified [RCV004800154]	uncertain significance	16	84042155	84042155	Human		name
597940835	CV3819134	single nucleotide variant	NM_001080442.3(SLC38A8):c.57G>T (p.Thr19=)	not provided [RCV005158945]	likely benign	16	84042101	84042101	Human		name
597884338	CV3834899	microsatellite	NM_001080442.3(SLC38A8):c.954-18_954-17del	not provided [RCV005178623]	likely benign	16	84016744	84016745	Human		name
150505655	CV1222941	single nucleotide variant	NM_001080442.3(SLC38A8):c.195G>C (p.Ser65=)	not provided [RCV001621876]	benign	16	84036895	84036895	Human		name
152095299	CV1533992	single nucleotide variant	NM_001080442.3(SLC38A8):c.273G>A (p.Val91=)	not provided [RCV002151125]	benign	16	84036817	84036817	Human		name
156311627	CV2143674	single nucleotide variant	NM_001080442.3(SLC38A8):c.120T>C (p.Ala40=)	not provided [RCV003011145]	likely benign	16	84042038	84042038	Human		name
401898843	CV2782750	single nucleotide variant	NM_001080442.3(SLC38A8):c.19G>A (p.Gly7Arg)	Inborn genetic diseases [RCV003377002]	uncertain significance	16	84042139	84042139	Human	1	name
402477439	CV2853760	single nucleotide variant	NM_001080442.3(SLC38A8):c.168C>T (p.Val56=)	not provided [RCV003543610]	likely benign	16	84041990	84041990	Human		name
405169132	CV2854130	single nucleotide variant	NM_001080442.3(SLC38A8):c.195G>A (p.Ser65=)	not provided [RCV003542023]	likely benign	16	84036895	84036895	Human		name
402513901	CV2860282	single nucleotide variant	NM_001080442.3(SLC38A8):c.123C>G (p.Gly41=)	not provided [RCV003575329]	likely benign	16	84042035	84042035	Human		name
405201586	CV2861339	single nucleotide variant	NM_001080442.3(SLC38A8):c.186G>A (p.Glu62=)	not provided [RCV003551439]	likely benign	16	84041972	84041972	Human		name
405049256	CV2886943	single nucleotide variant	NM_001080442.3(SLC38A8):c.204C>T (p.Phe68=)	not provided [RCV003579671]	likely benign	16	84036886	84036886	Human		name
405227588	CV2888930	single nucleotide variant	NM_001080442.3(SLC38A8):c.282G>T (p.Gly94=)	SLC38A8-related disorder [RCV003966511]\|not provided [RCV003554836]	benign\|likely benign	16	84036808	84036808	Human	1	name , trait , alternate_id
405238623	CV2889158	single nucleotide variant	NM_001080442.3(SLC38A8):c.171T>C (p.Pro57=)	not provided [RCV003556895]	likely benign	16	84041987	84041987	Human		name
405233071	CV2896504	single nucleotide variant	NM_001080442.3(SLC38A8):c.108C>T (p.Ser36=)	not provided [RCV003555771]	likely benign	16	84042050	84042050	Human		name
405171829	CV2897570	single nucleotide variant	NM_001080442.3(SLC38A8):c.285G>T (p.Leu95=)	not provided [RCV003563187]	likely benign	16	84036805	84036805	Human		name
402466694	CV2914898	single nucleotide variant	NM_001080442.3(SLC38A8):c.123C>T (p.Gly41=)	not provided [RCV003569511]	likely benign	16	84042035	84042035	Human		name
402483622	CV2918154	single nucleotide variant	NM_001080442.3(SLC38A8):c.201C>T (p.Val67=)	not provided [RCV003572322]	likely benign	16	84036889	84036889	Human		name
405008389	CV2926887	single nucleotide variant	NM_001080442.3(SLC38A8):c.183G>C (p.Val61=)	not provided [RCV003576524]	likely benign	16	84041975	84041975	Human		name
405061375	CV2929222	single nucleotide variant	NM_001080442.3(SLC38A8):c.213C>T (p.Ser71=)	not provided [RCV003580433]	likely benign	16	84036877	84036877	Human		name
402468860	CV2930790	single nucleotide variant	NM_001080442.3(SLC38A8):c.282G>A (p.Gly94=)	not provided [RCV003570000]	likely benign	16	84036808	84036808	Human		name
402470067	CV2931041	single nucleotide variant	NM_001080442.3(SLC38A8):c.264C>T (p.Tyr88=)	not provided [RCV003570142]	likely benign	16	84036826	84036826	Human		name
405125057	CV2939219	single nucleotide variant	NM_001080442.3(SLC38A8):c.124C>T (p.Leu42=)	not provided [RCV003671802]	likely benign	16	84042034	84042034	Human		name
405081556	CV2941873	single nucleotide variant	NM_001080442.3(SLC38A8):c.228G>A (p.Leu76=)	not provided [RCV003664654]	likely benign	16	84036862	84036862	Human		name
405123599	CV2942406	single nucleotide variant	NM_001080442.3(SLC38A8):c.135C>T (p.Phe45=)	not provided [RCV003671626]	likely benign	16	84042023	84042023	Human		name
405122637	CV2954148	single nucleotide variant	NM_001080442.3(SLC38A8):c.108C>G (p.Ser36=)	not provided [RCV003667585]	likely benign	16	84042050	84042050	Human		name
405118857	CV2955912	single nucleotide variant	NM_001080442.3(SLC38A8):c.156G>C (p.Ala52=)	not provided [RCV003671245]	likely benign	16	84042002	84042002	Human		name
405180404	CV2956221	single nucleotide variant	NM_001080442.3(SLC38A8):c.222C>T (p.Val74=)	not provided [RCV003676206]	likely benign	16	84036868	84036868	Human		name
405147186	CV2962789	single nucleotide variant	NM_001080442.3(SLC38A8):c.258C>A (p.Ala86=)	not provided [RCV003673731]	likely benign	16	84036832	84036832	Human		name
405227197	CV2967192	single nucleotide variant	NM_001080442.3(SLC38A8):c.210C>T (p.Ile70=)	not provided [RCV003681548]	likely benign	16	84036880	84036880	Human		name
405216750	CV2972154	single nucleotide variant	NM_001080442.3(SLC38A8):c.165G>T (p.Val55=)	not provided [RCV003680124]	likely benign	16	84041993	84041993	Human		name
405236843	CV2973371	single nucleotide variant	NM_001080442.3(SLC38A8):c.228G>T (p.Leu76=)	not provided [RCV003683121]	likely benign	16	84036862	84036862	Human		name
402477434	CV2983788	single nucleotide variant	NM_001080442.3(SLC38A8):c.201C>G (p.Val67=)	not provided [RCV003686190]	likely benign	16	84036889	84036889	Human		name
402479327	CV2990865	single nucleotide variant	NM_001080442.3(SLC38A8):c.283C>T (p.Leu95=)	not provided [RCV003686431]	likely benign	16	84036807	84036807	Human		name
405022380	CV3002735	single nucleotide variant	NM_001080442.3(SLC38A8):c.216G>T (p.Gly72=)	not provided [RCV003694941]	likely benign	16	84036874	84036874	Human		name
402518085	CV3003368	single nucleotide variant	NM_001080442.3(SLC38A8):c.267G>A (p.Gln89=)	not provided [RCV003716224]	likely benign	16	84036823	84036823	Human		name
405120859	CV3027100	single nucleotide variant	NM_001080442.3(SLC38A8):c.276C>T (p.Val92=)	not provided [RCV003700662]	likely benign	16	84036814	84036814	Human		name
405048231	CV3028998	single nucleotide variant	NM_001080442.3(SLC38A8):c.219G>A (p.Leu73=)	not provided [RCV003696816]	likely benign	16	84036871	84036871	Human		name
405209763	CV3034209	single nucleotide variant	NM_001080442.3(SLC38A8):c.111G>C (p.Ala37=)	not provided [RCV003708440]	likely benign	16	84042047	84042047	Human		name
405219619	CV3035123	single nucleotide variant	NM_001080442.3(SLC38A8):c.150C>G (p.Ser50=)	not provided [RCV003709775]	likely benign	16	84042008	84042008	Human		name
405234784	CV3040691	single nucleotide variant	NM_001080442.3(SLC38A8):c.144C>G (p.Ala48=)	not provided [RCV003712140]	likely benign	16	84042014	84042014	Human		name
405225444	CV3042178	single nucleotide variant	NM_001080442.3(SLC38A8):c.178C>T (p.Leu60=)	not provided [RCV003710617]	likely benign	16	84041980	84041980	Human		name
405137260	CV3048541	single nucleotide variant	NM_001080442.3(SLC38A8):c.291C>T (p.Gly97=)	not provided [RCV003725340]	likely benign	16	84036799	84036799	Human		name
405137271	CV3048542	single nucleotide variant	NM_001080442.3(SLC38A8):c.231C>G (p.Gly77=)	not provided [RCV003725341]	likely benign	16	84036859	84036859	Human		name
405145721	CV3052449	single nucleotide variant	NM_001080442.3(SLC38A8):c.261C>T (p.Thr87=)	not provided [RCV003726042]	likely benign	16	84036829	84036829	Human		name
405178363	CV3056504	single nucleotide variant	NM_001080442.3(SLC38A8):c.219G>T (p.Leu73=)	not provided [RCV003728547]	likely benign	16	84036871	84036871	Human		name
405189720	CV3069708	single nucleotide variant	NM_001080442.3(SLC38A8):c.207G>C (p.Leu69=)	not provided [RCV003729608]	likely benign	16	84036883	84036883	Human		name
405169285	CV3122388	single nucleotide variant	NM_001080442.3(SLC38A8):c.192C>T (p.Val64=)	not provided [RCV003818977]	likely benign	16	84036898	84036898	Human		name
405060978	CV3129477	single nucleotide variant	NM_001080442.3(SLC38A8):c.111G>A (p.Ala37=)	not provided [RCV003832746]	likely benign	16	84042047	84042047	Human		name
405028244	CV3129817	single nucleotide variant	NM_001080442.3(SLC38A8):c.174C>G (p.Ala58=)	not provided [RCV003830415]	likely benign	16	84041984	84041984	Human		name
405128678	CV3133206	single nucleotide variant	NM_001080442.3(SLC38A8):c.192C>G (p.Val64=)	not provided [RCV003838176]	likely benign	16	84036898	84036898	Human		name
405065236	CV3144803	single nucleotide variant	NM_001080442.3(SLC38A8):c.198G>A (p.Leu66=)	not provided [RCV003850580]	likely benign	16	84036892	84036892	Human		name
405190535	CV3149662	single nucleotide variant	NM_001080442.3(SLC38A8):c.297C>T (p.Ala99=)	not provided [RCV003843388]	likely benign	16	84036793	84036793	Human		name
405166178	CV3160562	single nucleotide variant	NM_001080442.3(SLC38A8):c.156G>A (p.Ala52=)	not provided [RCV003857442]	likely benign	16	84042002	84042002	Human		name
405218816	CV3161350	single nucleotide variant	NM_001080442.3(SLC38A8):c.273G>C (p.Val91=)	not provided [RCV003863219]	likely benign	16	84036817	84036817	Human		name
404994607	CV3176568	single nucleotide variant	NM_001080442.3(SLC38A8):c.226C>T (p.Leu76=)	not provided [RCV003882000]	likely benign	16	84036864	84036864	Human		name
405241560	CV3176976	single nucleotide variant	NM_001080442.3(SLC38A8):c.196T>C (p.Leu66=)	not provided [RCV003867417]	likely benign	16	84036894	84036894	Human		name
597937963	CV3774788	deletion	NM_001080442.3(SLC38A8):c.58del (p.Ala20fs)	not provided [RCV005117821]	pathogenic	16	84042100	84042100	Human		name
597896130	CV3810497	single nucleotide variant	NM_001080442.3(SLC38A8):c.216G>A (p.Gly72=)	not provided [RCV005152022]	likely benign	16	84036874	84036874	Human		name
597833468	CV3827663	single nucleotide variant	NM_001080442.3(SLC38A8):c.138C>T (p.Pro46=)	not provided [RCV005170753]	likely benign	16	84042020	84042020	Human		name
598243713	CV3914971	single nucleotide variant	NM_001080442.3(SLC38A8):c.16C>T (p.Pro6Ser)	Inborn genetic diseases [RCV005276748]	uncertain significance	16	84042142	84042142	Human	1	name
15147858	CV715114	single nucleotide variant	NM_001080442.3(SLC38A8):c.189G>A (p.Leu63=)	not provided [RCV000967425]	benign	16	84041969	84041969	Human		name
15182250	CV715115	single nucleotide variant	NM_001080442.3(SLC38A8):c.159C>T (p.Gly53=)	SLC38A8-related disorder [RCV003918565]\|not provided [RCV000974586]	benign\|likely benign	16	84041999	84041999	Human	1	name , trait , alternate_id
15158700	CV726828	single nucleotide variant	NM_001080442.3(SLC38A8):c.14C>T (p.Thr5Ile)	SLC38A8-related disorder [RCV003930532]\|not provided [RCV000881057]	likely benign	16	84042144	84042144	Human	1	name , trait , alternate_id
15201922	CV755431	single nucleotide variant	NM_001080442.3(SLC38A8):c.192C>A (p.Val64=)	SLC38A8-related disorder [RCV003950785]\|not provided [RCV000913287]	benign\|likely benign	16	84036898	84036898	Human	1	name , trait , alternate_id
150500125	CV1256037	deletion	NM_001080442.3(SLC38A8):c.531-220_531-209del	not provided [RCV001676660]	benign	16	84032177	84032188	Human		name
150488161	CV1274397	single nucleotide variant	NM_001080442.3(SLC38A8):c.780C>T (p.Ala260=)	not provided [RCV001726638]\|not specified [RCV001699750]	benign\|likely benign	16	84022800	84022800	Human		name
150489838	CV1279280	single nucleotide variant	NM_001080442.3(SLC38A8):c.459G>A (p.Leu153=)	not provided [RCV001716367]	benign	16	84033399	84033399	Human		name
150547055	CV1291852	deletion	NM_001080442.3(SLC38A8):c.116del (p.Gly39fs)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV001733534]	pathogenic	16	84042042	84042042	Human	1	name
8591104	CV130980	single nucleotide variant	NM_001080442.3(SLC38A8):c.95T>G (p.Ile32Ser)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV000111467]\|Foveal hypoplasia [RCV001003224]\|not provided [RCV003556160]	pathogenic	16	84042063	84042063	Human	3	name
152176078	CV1562277	single nucleotide variant	NM_001080442.3(SLC38A8):c.669C>T (p.Pro223=)	not provided [RCV002164218]	benign	16	84029515	84029515	Human		name
152095698	CV1653193	single nucleotide variant	NM_001080442.3(SLC38A8):c.762T>G (p.Ser254=)	not provided [RCV002094805]	likely benign	16	84022818	84022818	Human		name
156207219	CV1913267	single nucleotide variant	NM_001080442.3(SLC38A8):c.77C>T (p.Ser26Leu)	Inborn genetic diseases [RCV005281332]\|not provided [RCV002595929]	uncertain significance	16	84042081	84042081	Human	1	name
156079930	CV1959838	single nucleotide variant	NM_001080442.3(SLC38A8):c.438C>T (p.Tyr146=)	not provided [RCV002569876]	likely benign	16	84033420	84033420	Human		name
156073088	CV1968949	single nucleotide variant	NM_001080442.3(SLC38A8):c.348C>G (p.Ser116=)	not provided [RCV002621304]	likely benign	16	84036742	84036742	Human		name
156292918	CV2009836	single nucleotide variant	NM_001080442.3(SLC38A8):c.546G>A (p.Leu182=)	not provided [RCV002715728]	likely benign	16	84031953	84031953	Human		name
156230725	CV2140971	single nucleotide variant	NM_001080442.3(SLC38A8):c.774G>A (p.Leu258=)	not provided [RCV003007731]	likely benign	16	84022806	84022806	Human		name
156143886	CV2163993	single nucleotide variant	NM_001080442.3(SLC38A8):c.951G>A (p.Gly317=)	not provided [RCV003022618]	likely benign	16	84017142	84017142	Human		name
155964695	CV2261670	single nucleotide variant	NM_001080442.3(SLC38A8):c.88G>A (p.Val30Ile)	Inborn genetic diseases [RCV002817162]	uncertain significance	16	84042070	84042070	Human	1	name
156287153	CV2292147	single nucleotide variant	NM_001080442.3(SLC38A8):c.56C>A (p.Thr19Lys)	Inborn genetic diseases [RCV002896901]	uncertain significance	16	84042102	84042102	Human	1	name
329366820	CV2441909	single nucleotide variant	NM_001080442.3(SLC38A8):c.94A>G (p.Ile32Val)	Inborn genetic diseases [RCV003207964]	uncertain significance	16	84042064	84042064	Human	1	name
401903509	CV2817846	single nucleotide variant	NM_001080442.3(SLC38A8):c.804G>A (p.Thr268=)	not provided [RCV003419467]	likely benign	16	84022776	84022776	Human		name
401911884	CV2817847	single nucleotide variant	NM_001080442.3(SLC38A8):c.576C>T (p.Thr192=)	not provided [RCV003426859]	likely benign	16	84031923	84031923	Human		name
405166520	CV2857602	single nucleotide variant	NM_001080442.3(SLC38A8):c.417G>A (p.Pro139=)	not provided [RCV003541829]	likely benign	16	84033441	84033441	Human		name
405087977	CV2862210	single nucleotide variant	NM_001080442.3(SLC38A8):c.369C>T (p.Ile123=)	not provided [RCV003549596]	benign	16	84036721	84036721	Human		name
405081208	CV2864782	single nucleotide variant	NM_001080442.3(SLC38A8):c.981G>A (p.Arg327=)	not provided [RCV003549246]	likely benign	16	84016700	84016700	Human		name
402501268	CV2869056	single nucleotide variant	NM_001080442.3(SLC38A8):c.696C>T (p.His232=)	not provided [RCV003545924]	likely benign	16	84022884	84022884	Human		name
405209878	CV2871489	single nucleotide variant	NM_001080442.3(SLC38A8):c.789C>T (p.Leu263=)	not provided [RCV003552439]	likely benign	16	84022791	84022791	Human		name
405213097	CV2878798	single nucleotide variant	NM_001080442.3(SLC38A8):c.480C>T (p.Val160=)	not provided [RCV003552847]	likely benign	16	84033378	84033378	Human		name
405146649	CV2881513	single nucleotide variant	NM_001080442.3(SLC38A8):c.444C>T (p.Asp148=)	not provided [RCV003561414]	likely benign	16	84033414	84033414	Human		name
405220190	CV2884197	single nucleotide variant	NM_001080442.3(SLC38A8):c.468C>G (p.Leu156=)	not provided [RCV003553764]	likely benign	16	84033390	84033390	Human		name
405236576	CV2884688	single nucleotide variant	NM_001080442.3(SLC38A8):c.348C>T (p.Ser116=)	not provided [RCV003556522]	likely benign	16	84036742	84036742	Human		name
405224645	CV2885579	single nucleotide variant	NM_001080442.3(SLC38A8):c.579G>T (p.Val193=)	not provided [RCV003554447]	likely benign	16	84031920	84031920	Human		name
405240480	CV2892782	single nucleotide variant	NM_001080442.3(SLC38A8):c.681C>T (p.Phe227=)	not provided [RCV003557240]	benign	16	84029503	84029503	Human		name
405129174	CV2894941	single nucleotide variant	NM_001080442.3(SLC38A8):c.798A>G (p.Ser266=)	not provided [RCV003559872]	likely benign	16	84022782	84022782	Human		name
405163598	CV2895462	single nucleotide variant	NM_001080442.3(SLC38A8):c.501G>A (p.Pro167=)	not provided [RCV003562513]	likely benign	16	84033357	84033357	Human		name
405171968	CV2897595	single nucleotide variant	NM_001080442.3(SLC38A8):c.810T>G (p.Val270=)	not provided [RCV003563197]	likely benign	16	84017283	84017283	Human		name
405218654	CV2907459	single nucleotide variant	NM_001080442.3(SLC38A8):c.546G>C (p.Leu182=)	not provided [RCV003568041]	likely benign	16	84031953	84031953	Human		name
405206438	CV2913486	single nucleotide variant	NM_001080442.3(SLC38A8):c.484C>T (p.Leu162=)	not provided [RCV003566565]	likely benign	16	84033374	84033374	Human		name
402466048	CV2913823	single nucleotide variant	NM_001080442.3(SLC38A8):c.705C>T (p.Ala235=)	not provided [RCV003569292]	benign	16	84022875	84022875	Human		name
405178358	CV2915883	single nucleotide variant	NM_001080442.3(SLC38A8):c.502C>A (p.Arg168=)	not provided [RCV003563647]	likely benign	16	84033356	84033356	Human		name
405204953	CV2916126	single nucleotide variant	NM_001080442.3(SLC38A8):c.753C>G (p.Ala251=)	not provided [RCV003566379]	likely benign	16	84022827	84022827	Human		name
402475997	CV2916861	single nucleotide variant	NM_001080442.3(SLC38A8):c.996A>G (p.Gly332=)	not provided [RCV003571432]	likely benign	16	84016685	84016685	Human		name
402502480	CV2932389	single nucleotide variant	NM_001080442.3(SLC38A8):c.976A>C (p.Arg326=)	not provided [RCV003574065]	likely benign	16	84016705	84016705	Human		name
405036542	CV2932768	single nucleotide variant	NM_001080442.3(SLC38A8):c.756G>C (p.Leu252=)	not provided [RCV003578748]	likely benign	16	84022824	84022824	Human		name
405090978	CV2937335	single nucleotide variant	NM_001080442.3(SLC38A8):c.816C>A (p.Gly272=)	not provided [RCV003665231]	likely benign	16	84017277	84017277	Human		name
405100376	CV2937981	single nucleotide variant	NM_001080442.3(SLC38A8):c.618C>A (p.Ser206=)	not provided [RCV003665747]	likely benign	16	84031881	84031881	Human		name
402488079	CV2941465	single nucleotide variant	NM_001080442.3(SLC38A8):c.465G>T (p.Leu155=)	not provided [RCV003660234]	likely benign	16	84033393	84033393	Human		name
405111125	CV2942154	single nucleotide variant	NM_001080442.3(SLC38A8):c.612T>G (p.Arg204=)	not provided [RCV003666321]	likely benign	16	84031887	84031887	Human		name
402496936	CV2942820	single nucleotide variant	NM_001080442.3(SLC38A8):c.939G>A (p.Val313=)	not provided [RCV003661162]	likely benign	16	84017154	84017154	Human		name
402513916	CV2943048	single nucleotide variant	NM_001080442.3(SLC38A8):c.948G>A (p.Leu316=)	not provided [RCV003662789]	likely benign	16	84017145	84017145	Human		name
405085189	CV2943094	single nucleotide variant	NM_001080442.3(SLC38A8):c.972C>T (p.Phe324=)	not provided [RCV003664901]	likely benign	16	84016709	84016709	Human		name
402484814	CV2944933	single nucleotide variant	NM_001080442.3(SLC38A8):c.579G>A (p.Val193=)	not provided [RCV003659973]	likely benign	16	84031920	84031920	Human		name
405077382	CV2948632	single nucleotide variant	NM_001080442.3(SLC38A8):c.360C>T (p.Leu120=)	not provided [RCV003664284]	likely benign	16	84036730	84036730	Human		name
405154573	CV2949413	single nucleotide variant	NM_001080442.3(SLC38A8):c.783C>T (p.Cys261=)	not provided [RCV003674243]	likely benign	16	84022797	84022797	Human		name
405119473	CV2952148	single nucleotide variant	NM_001080442.3(SLC38A8):c.426G>A (p.Pro142=)	not provided [RCV003671312]	likely benign	16	84033432	84033432	Human		name
405119985	CV2952159	single nucleotide variant	NM_001080442.3(SLC38A8):c.960G>C (p.Val320=)	not provided [RCV003671317]	likely benign	16	84016721	84016721	Human		name
405117043	CV2953416	single nucleotide variant	NM_001080442.3(SLC38A8):c.993G>A (p.Gly331=)	not provided [RCV003667032]	likely benign	16	84016688	84016688	Human		name
405137789	CV2954481	single nucleotide variant	NM_001080442.3(SLC38A8):c.672C>G (p.Thr224=)	not provided [RCV003672961]	likely benign	16	84029512	84029512	Human		name
405118458	CV2955847	single nucleotide variant	NM_001080442.3(SLC38A8):c.948G>T (p.Leu316=)	not provided [RCV003671206]	likely benign	16	84017145	84017145	Human		name
405128020	CV2957208	single nucleotide variant	NM_001080442.3(SLC38A8):c.307C>T (p.Leu103=)	not provided [RCV003672147]	likely benign	16	84036783	84036783	Human		name
405135403	CV2958039	single nucleotide variant	NM_001080442.3(SLC38A8):c.822G>C (p.Leu274=)	not provided [RCV003672772]	likely benign	16	84017271	84017271	Human		name
405144700	CV2958978	single nucleotide variant	NM_001080442.3(SLC38A8):c.375C>T (p.Asp125=)	not provided [RCV003673448]	likely benign	16	84036715	84036715	Human		name
405192919	CV2964987	single nucleotide variant	NM_001080442.3(SLC38A8):c.807G>T (p.Gly269=)	not provided [RCV003677290]	likely benign	16	84017286	84017286	Human		name
405246191	CV2965738	single nucleotide variant	NM_001080442.3(SLC38A8):c.642C>T (p.Ser214=)	not provided [RCV003685368]	likely benign	16	84029542	84029542	Human		name
405240831	CV2974042	single nucleotide variant	NM_001080442.3(SLC38A8):c.894C>G (p.Ala298=)	not provided [RCV003684033]	likely benign	16	84017199	84017199	Human		name
405223271	CV2982604	single nucleotide variant	NM_001080442.3(SLC38A8):c.457C>T (p.Leu153=)	not provided [RCV003681017]	likely benign	16	84033401	84033401	Human		name
402489737	CV2984440	single nucleotide variant	NM_001080442.3(SLC38A8):c.996A>T (p.Gly332=)	not provided [RCV003713611]	likely benign	16	84016685	84016685	Human		name
405191436	CV2984826	single nucleotide variant	NM_001080442.3(SLC38A8):c.708C>G (p.Val236=)	not provided [RCV003706499]	likely benign	16	84022872	84022872	Human		name
405240008	CV2989984	single nucleotide variant	NM_001080442.3(SLC38A8):c.486G>A (p.Leu162=)	not provided [RCV003683859]	likely benign	16	84033372	84033372	Human		name
405016726	CV2991672	single nucleotide variant	NM_001080442.3(SLC38A8):c.816C>T (p.Gly272=)	not provided [RCV003694472]	likely benign	16	84017277	84017277	Human		name
402519328	CV2992341	single nucleotide variant	NM_001080442.3(SLC38A8):c.957A>G (p.Ser319=)	not provided [RCV003690042]	likely benign	16	84016724	84016724	Human		name
405015828	CV2995342	single nucleotide variant	NM_001080442.3(SLC38A8):c.897G>C (p.Arg299=)	not provided [RCV003694385]	likely benign	16	84017196	84017196	Human		name
402481909	CV3001216	single nucleotide variant	NM_001080442.3(SLC38A8):c.801G>C (p.Leu267=)	not provided [RCV003686679]	likely benign	16	84022779	84022779	Human		name
402517090	CV3003118	single nucleotide variant	NM_001080442.3(SLC38A8):c.492G>A (p.Leu164=)	not provided [RCV003716074]	likely benign	16	84033366	84033366	Human		name
402522136	CV3004994	single nucleotide variant	NM_001080442.3(SLC38A8):c.474G>A (p.Val158=)	not provided [RCV003690313]	likely benign	16	84033384	84033384	Human		name
404979474	CV3009589	single nucleotide variant	NM_001080442.3(SLC38A8):c.768G>A (p.Leu256=)	not provided [RCV003690989]	likely benign	16	84022812	84022812	Human		name
405047577	CV3014290	single nucleotide variant	NM_001080442.3(SLC38A8):c.471C>T (p.Ser157=)	not provided [RCV003696725]	likely benign	16	84033387	84033387	Human		name
405241748	CV3014562	single nucleotide variant	NM_001080442.3(SLC38A8):c.522A>G (p.Lys174=)	not provided [RCV003719347]	likely benign	16	84033336	84033336	Human		name
402497792	CV3015790	single nucleotide variant	NM_001080442.3(SLC38A8):c.768G>C (p.Leu256=)	not provided [RCV003688184]	likely benign	16	84022812	84022812	Human		name
402499058	CV3016065	single nucleotide variant	NM_001080442.3(SLC38A8):c.873T>C (p.Asn291=)	not provided [RCV003688304]	likely benign	16	84017220	84017220	Human		name
405116600	CV3020194	single nucleotide variant	NM_001080442.3(SLC38A8):c.912C>T (p.Val304=)	not provided [RCV003700307]	likely benign	16	84017181	84017181	Human		name
405064419	CV3020755	single nucleotide variant	NM_001080442.3(SLC38A8):c.819C>T (p.Phe273=)	not provided [RCV003697925]	likely benign	16	84017274	84017274	Human		name
405145187	CV3027435	single nucleotide variant	NM_001080442.3(SLC38A8):c.765G>A (p.Val255=)	not provided [RCV003702860]	likely benign	16	84022815	84022815	Human		name
405170317	CV3029435	single nucleotide variant	NM_001080442.3(SLC38A8):c.639C>G (p.Ala213=)	not provided [RCV003704630]	likely benign	16	84029545	84029545	Human		name
405140183	CV3029836	single nucleotide variant	NM_001080442.3(SLC38A8):c.624T>C (p.Pro208=)	not provided [RCV003702440]	likely benign	16	84031875	84031875	Human		name
405066387	CV3030832	single nucleotide variant	NM_001080442.3(SLC38A8):c.729C>T (p.Arg243=)	not provided [RCV003698050]	likely benign	16	84022851	84022851	Human		name
405205154	CV3033658	single nucleotide variant	NM_001080442.3(SLC38A8):c.414C>A (p.Thr138=)	not provided [RCV003707908]	likely benign	16	84033444	84033444	Human		name
405205771	CV3041876	single nucleotide variant	NM_001080442.3(SLC38A8):c.852C>T (p.Val284=)	not provided [RCV003707984]	likely benign	16	84017241	84017241	Human		name
405252254	CV3047082	single nucleotide variant	NM_001080442.3(SLC38A8):c.900C>T (p.Val300=)	not provided [RCV003722138]	likely benign	16	84017193	84017193	Human		name
405215871	CV3055563	single nucleotide variant	NM_001080442.3(SLC38A8):c.339C>T (p.Leu113=)	not provided [RCV003732646]	likely benign	16	84036751	84036751	Human		name
405199352	CV3056627	single nucleotide variant	NM_001080442.3(SLC38A8):c.711C>T (p.Ser237=)	not provided [RCV003730604]	likely benign	16	84022869	84022869	Human		name
405163744	CV3059372	single nucleotide variant	NM_001080442.3(SLC38A8):c.357C>T (p.Phe119=)	not provided [RCV003727281]	likely benign	16	84036733	84036733	Human		name
405223079	CV3061173	single nucleotide variant	NM_001080442.3(SLC38A8):c.408T>G (p.Ser136=)	not provided [RCV003733611]	likely benign	16	84033450	84033450	Human		name
405208055	CV3065322	deletion	NM_001080442.3(SLC38A8):c.263del (p.Tyr88fs)	not provided [RCV003731596]	pathogenic	16	84036827	84036827	Human		name
405194008	CV3066288	single nucleotide variant	NM_001080442.3(SLC38A8):c.946C>T (p.Leu316=)	not provided [RCV003729936]	likely benign	16	84017147	84017147	Human		name
405201015	CV3066867	single nucleotide variant	NM_001080442.3(SLC38A8):c.648C>G (p.Thr216=)	not provided [RCV003730772]	likely benign	16	84029536	84029536	Human		name
405243485	CV3071891	single nucleotide variant	NM_001080442.3(SLC38A8):c.837A>G (p.Glu279=)	not provided [RCV003737810]	likely benign	16	84017256	84017256	Human		name
405032420	CV3074972	single nucleotide variant	NM_001080442.3(SLC38A8):c.402C>T (p.Leu134=)	not provided [RCV003739247]	likely benign	16	84033456	84033456	Human		name
405214233	CV3078404	single nucleotide variant	NM_001080442.3(SLC38A8):c.741C>T (p.Leu247=)	not provided [RCV003732423]	likely benign	16	84022839	84022839	Human		name
405104241	CV3116674	single nucleotide variant	NM_001080442.3(SLC38A8):c.672C>T (p.Thr224=)	not provided [RCV003812198]	likely benign	16	84029512	84029512	Human		name
405208648	CV3117159	single nucleotide variant	NM_001080442.3(SLC38A8):c.501G>T (p.Pro167=)	not provided [RCV003822946]	likely benign	16	84033357	84033357	Human		name
405210361	CV3117408	single nucleotide variant	NM_001080442.3(SLC38A8):c.420C>T (p.Pro140=)	not provided [RCV003823195]	likely benign	16	84033438	84033438	Human		name
405211831	CV3117870	single nucleotide variant	NM_001080442.3(SLC38A8):c.924T>C (p.Thr308=)	not provided [RCV003823469]	likely benign	16	84017169	84017169	Human		name
405096300	CV3119123	single nucleotide variant	NM_001080442.3(SLC38A8):c.534C>T (p.Ile178=)	not provided [RCV003811574]	likely benign	16	84031965	84031965	Human		name
405176693	CV3119329	single nucleotide variant	NM_001080442.3(SLC38A8):c.723C>T (p.Ser241=)	not provided [RCV003819614]	likely benign	16	84022857	84022857	Human		name
405002650	CV3120672	single nucleotide variant	NM_001080442.3(SLC38A8):c.453C>T (p.Phe151=)	not provided [RCV003828275]	likely benign	16	84033405	84033405	Human		name
404983219	CV3121561	single nucleotide variant	NM_001080442.3(SLC38A8):c.432G>A (p.Pro144=)	not provided [RCV003826360]	likely benign	16	84033426	84033426	Human		name
405177236	CV3123452	single nucleotide variant	NM_001080442.3(SLC38A8):c.648C>T (p.Thr216=)	not provided [RCV003819661]	likely benign	16	84029536	84029536	Human		name
405215151	CV3124539	single nucleotide variant	NM_001080442.3(SLC38A8):c.984C>T (p.Ser328=)	not provided [RCV003823901]	likely benign	16	84016697	84016697	Human		name
405215993	CV3124653	single nucleotide variant	NM_001080442.3(SLC38A8):c.663C>G (p.Val221=)	not provided [RCV003824015]	likely benign	16	84029521	84029521	Human		name
405037609	CV3130919	single nucleotide variant	NM_001080442.3(SLC38A8):c.318C>G (p.Ala106=)	not provided [RCV003831137]	likely benign	16	84036772	84036772	Human		name
405056624	CV3134833	single nucleotide variant	NM_001080442.3(SLC38A8):c.741C>G (p.Leu247=)	not provided [RCV003832505]	likely benign	16	84022839	84022839	Human		name
405153384	CV3135054	single nucleotide variant	NM_001080442.3(SLC38A8):c.459G>T (p.Leu153=)	not provided [RCV003840166]	likely benign	16	84033399	84033399	Human		name
405216075	CV3143346	single nucleotide variant	NM_001080442.3(SLC38A8):c.988T>C (p.Leu330=)	not provided [RCV003846510]	likely benign	16	84016693	84016693	Human		name
405233750	CV3145048	single nucleotide variant	NM_001080442.3(SLC38A8):c.475C>T (p.Leu159=)	not provided [RCV003853305]	likely benign	16	84033383	84033383	Human		name
405209496	CV3145815	single nucleotide variant	NM_001080442.3(SLC38A8):c.471C>A (p.Ser157=)	not provided [RCV003845545]	likely benign	16	84033387	84033387	Human		name
405053317	CV3151040	single nucleotide variant	NM_001080442.3(SLC38A8):c.535C>T (p.Leu179=)	not provided [RCV003849644]	likely benign	16	84031964	84031964	Human		name
405147816	CV3152136	single nucleotide variant	NM_001080442.3(SLC38A8):c.510C>T (p.Ile170=)	not provided [RCV003856107]	likely benign	16	84033348	84033348	Human		name
405174974	CV3152216	single nucleotide variant	NM_001080442.3(SLC38A8):c.513C>T (p.Ala171=)	not provided [RCV003858171]	likely benign	16	84033345	84033345	Human		name
405222710	CV3154902	single nucleotide variant	NM_001080442.3(SLC38A8):c.753C>T (p.Ala251=)	not provided [RCV003847397]	likely benign	16	84022827	84022827	Human		name
405139596	CV3155170	single nucleotide variant	NM_001080442.3(SLC38A8):c.456C>G (p.Thr152=)	not provided [RCV003855408]	likely benign	16	84033402	84033402	Human		name
405163086	CV3160330	single nucleotide variant	NM_001080442.3(SLC38A8):c.759G>T (p.Val253=)	not provided [RCV003857209]	likely benign	16	84022821	84022821	Human		name
405244356	CV3161239	single nucleotide variant	NM_001080442.3(SLC38A8):c.462C>A (p.Pro154=)	not provided [RCV003868148]	likely benign	16	84033396	84033396	Human		name
405218204	CV3161267	single nucleotide variant	NM_001080442.3(SLC38A8):c.792C>A (p.Ile264=)	not provided [RCV003863136]	likely benign	16	84022788	84022788	Human		name
405219431	CV3161432	single nucleotide variant	NM_001080442.3(SLC38A8):c.477G>C (p.Leu159=)	not provided [RCV003863301]	likely benign	16	84033381	84033381	Human		name
405246311	CV3162284	single nucleotide variant	NM_001080442.3(SLC38A8):c.366G>T (p.Val122=)	not provided [RCV003868803]	likely benign	16	84036724	84036724	Human		name
405129952	CV3163387	single nucleotide variant	NM_001080442.3(SLC38A8):c.366G>A (p.Val122=)	not provided [RCV003854568]	likely benign	16	84036724	84036724	Human		name
405238417	CV3169632	single nucleotide variant	NM_001080442.3(SLC38A8):c.864C>T (p.Tyr288=)	SLC38A8-related disorder [RCV004758290]\|not provided [RCV003866720]	likely benign	16	84017229	84017229	Human	1	name , trait , alternate_id
405238484	CV3169645	single nucleotide variant	NM_001080442.3(SLC38A8):c.570C>G (p.Val190=)	not provided [RCV003866733]	likely benign	16	84031929	84031929	Human		name
402466357	CV3173575	single nucleotide variant	NM_001080442.3(SLC38A8):c.693T>C (p.Cys231=)	not provided [RCV003873049]	likely benign	16	84022887	84022887	Human		name
402468018	CV3174233	single nucleotide variant	NM_001080442.3(SLC38A8):c.735G>A (p.Arg245=)	not provided [RCV003873516]	likely benign	16	84022845	84022845	Human		name
402469646	CV3174709	single nucleotide variant	NM_001080442.3(SLC38A8):c.684G>A (p.Gly228=)	not provided [RCV003873819]	likely benign	16	84029500	84029500	Human		name
405254566	CV3175413	single nucleotide variant	NM_001080442.3(SLC38A8):c.772T>C (p.Leu258=)	not provided [RCV003871680]	likely benign	16	84022808	84022808	Human		name
405252054	CV3177578	single nucleotide variant	NM_001080442.3(SLC38A8):c.918C>T (p.Ile306=)	not provided [RCV003870536]	likely benign	16	84017175	84017175	Human		name
405252408	CV3177955	single nucleotide variant	NM_001080442.3(SLC38A8):c.729C>G (p.Arg243=)	not provided [RCV003870735]	likely benign	16	84022851	84022851	Human		name
402512846	CV3178492	single nucleotide variant	NM_001080442.3(SLC38A8):c.315G>A (p.Glu105=)	not provided [RCV003879109]	likely benign	16	84036775	84036775	Human		name
405228904	CV3180451	single nucleotide variant	NM_001080442.3(SLC38A8):c.603C>T (p.Gly201=)	not provided [RCV003864872]	likely benign	16	84031896	84031896	Human		name
405250420	CV3180734	single nucleotide variant	NM_001080442.3(SLC38A8):c.711C>G (p.Ser237=)	not provided [RCV003870011]	likely benign	16	84022869	84022869	Human		name
402493096	CV3182663	single nucleotide variant	NM_001080442.3(SLC38A8):c.396C>T (p.Asp132=)	not provided [RCV003877150]	likely benign	16	84033462	84033462	Human		name
402496314	CV3183101	single nucleotide variant	NM_001080442.3(SLC38A8):c.936C>T (p.Ile312=)	not provided [RCV003877409]	benign	16	84017157	84017157	Human		name
404981304	CV3183495	single nucleotide variant	NM_001080442.3(SLC38A8):c.597C>T (p.Pro199=)	not provided [RCV003880518]	likely benign	16	84031902	84031902	Human		name
405708859	CV3329084	single nucleotide variant	NM_001080442.3(SLC38A8):c.44C>A (p.Pro15His)	Inborn genetic diseases [RCV004461472]	uncertain significance	16	84042114	84042114	Human	1	name
405708866	CV3329085	single nucleotide variant	NM_001080442.3(SLC38A8):c.56C>T (p.Thr19Met)	Inborn genetic diseases [RCV004461473]	uncertain significance	16	84042102	84042102	Human	1	name
408367432	CV3512464	single nucleotide variant	NM_001080442.3(SLC38A8):c.565C>T (p.Leu189=)	SLC38A8-related disorder [RCV004758475]	likely benign	16	84031934	84031934	Human		name , trait , alternate_id
597626991	CV3599920	single nucleotide variant	NM_001080442.3(SLC38A8):c.67A>C (p.Thr23Pro)	Inborn genetic diseases [RCV004966303]	uncertain significance	16	84042091	84042091	Human	1	name
597626996	CV3599922	single nucleotide variant	NM_001080442.3(SLC38A8):c.50C>G (p.Pro17Arg)	Inborn genetic diseases [RCV004966305]	uncertain significance	16	84042108	84042108	Human	1	name
597758556	CV3715697	deletion	NM_001080442.3(SLC38A8):c.282del (p.Leu95fs)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV005017834]	likely pathogenic	16	84036808	84036808	Human	1	name
597830754	CV3743293	single nucleotide variant	NM_001080442.3(SLC38A8):c.450C>T (p.Arg150=)	not provided [RCV005062301]	likely benign	16	84033408	84033408	Human		name
597892862	CV3743891	single nucleotide variant	NM_001080442.3(SLC38A8):c.969C>T (p.Asp323=)	not provided [RCV005071361]	likely benign	16	84016712	84016712	Human		name
597951219	CV3756415	single nucleotide variant	NM_001080442.3(SLC38A8):c.540C>T (p.Gly180=)	not provided [RCV005079472]	likely benign	16	84031959	84031959	Human		name
597831935	CV3759831	single nucleotide variant	NM_001080442.3(SLC38A8):c.876T>C (p.Asp292=)	not provided [RCV005084769]	likely benign	16	84017217	84017217	Human		name
597952041	CV3765542	single nucleotide variant	NM_001080442.3(SLC38A8):c.801G>A (p.Leu267=)	not provided [RCV005121186]	likely benign	16	84022779	84022779	Human		name
597873508	CV3768910	single nucleotide variant	NM_001080442.3(SLC38A8):c.423C>T (p.Ala141=)	not provided [RCV005123080]	likely benign	16	84033435	84033435	Human		name
597938653	CV3808287	single nucleotide variant	NM_001080442.3(SLC38A8):c.885C>T (p.Ile295=)	not provided [RCV005158475]	likely benign	16	84017208	84017208	Human		name
597919502	CV3811657	single nucleotide variant	NM_001080442.3(SLC38A8):c.708C>T (p.Val236=)	not provided [RCV005155488]	likely benign	16	84022872	84022872	Human		name
597837209	CV3828740	single nucleotide variant	NM_001080442.3(SLC38A8):c.903T>C (p.Leu301=)	not provided [RCV005171433]	likely benign	16	84017190	84017190	Human		name
597971048	CV3832634	single nucleotide variant	NM_001080442.3(SLC38A8):c.463C>T (p.Leu155=)	not provided [RCV005166713]	likely benign	16	84033395	84033395	Human		name
15181464	CV726827	single nucleotide variant	NM_001080442.3(SLC38A8):c.510C>A (p.Ile170=)	not provided [RCV000885773]	benign	16	84033348	84033348	Human		name
15173013	CV740394	single nucleotide variant	NM_001080442.3(SLC38A8):c.960G>A (p.Val320=)	SLC38A8-related disorder [RCV004758083]\|not provided [RCV000905783]	benign	16	84016721	84016721	Human	1	name , trait , alternate_id
15126321	CV740395	single nucleotide variant	NM_001080442.3(SLC38A8):c.849C>T (p.Asp283=)	not provided [RCV000896915]	likely benign	16	84017244	84017244	Human		name
15154967	CV755430	single nucleotide variant	NM_001080442.3(SLC38A8):c.678C>T (p.Cys226=)	SLC38A8-related disorder [RCV003903039]\|not provided [RCV000924365]	likely benign	16	84029506	84029506	Human	1	name , trait , alternate_id
15114157	CV771114	single nucleotide variant	NM_001080442.3(SLC38A8):c.327C>T (p.Leu109=)	not provided [RCV000939267]	likely benign	16	84036763	84036763	Human		name
152032313	CV1546251	single nucleotide variant	NM_001080442.3(SLC38A8):c.1077C>T (p.Leu359=)	not provided [RCV002124723]	benign	16	84016604	84016604	Human		name
152091309	CV1662166	single nucleotide variant	NM_001080442.3(SLC38A8):c.1068C>T (p.Thr356=)	SLC38A8-related disorder [RCV003978709]\|not provided [RCV002132080]	benign	16	84016613	84016613	Human	1	name , trait , alternate_id
156056916	CV1974612	single nucleotide variant	NM_001080442.3(SLC38A8):c.1071G>C (p.Val357=)	not provided [RCV002590844]	likely benign	16	84016610	84016610	Human		name
156375437	CV2124062	single nucleotide variant	NM_001080442.3(SLC38A8):c.170C>T (p.Pro57Leu)	not provided [RCV002942671]	benign	16	84041988	84041988	Human	3	name
156207250	CV2307902	single nucleotide variant	NM_001080442.3(SLC38A8):c.257C>G (p.Ala86Gly)	Inborn genetic diseases [RCV002893532]	uncertain significance	16	84036833	84036833	Human	1	name
156083074	CV2368978	single nucleotide variant	NM_001080442.3(SLC38A8):c.155C>T (p.Ala52Val)	Inborn genetic diseases [RCV003001407]	uncertain significance	16	84042003	84042003	Human	1	name
156218502	CV2386240	single nucleotide variant	NM_001080442.3(SLC38A8):c.176T>A (p.Phe59Tyr)	Inborn genetic diseases [RCV002744570]	uncertain significance	16	84041982	84041982	Human	1	name
243054123	CV2418439	single nucleotide variant	NM_001080442.3(SLC38A8):c.269G>T (p.Gly90Val)	not provided [RCV003154457]\|not specified [RCV004783044]	uncertain significance	16	84036821	84036821	Human		name
405088279	CV2862362	single nucleotide variant	NM_001080442.3(SLC38A8):c.1057C>T (p.Leu353=)	not provided [RCV003549655]	likely benign	16	84016624	84016624	Human		name
402517112	CV2865630	duplication	NM_001080442.3(SLC38A8):c.495dup (p.Ala166fs)	not provided [RCV003547400]	pathogenic	16	84033362	84033363	Human		name
402524417	CV2868354	duplication	NM_001080442.3(SLC38A8):c.951dup (p.Arg318fs)	not provided [RCV003548005]	pathogenic	16	84017141	84017142	Human		name
402518743	CV2870910	single nucleotide variant	NM_001080442.3(SLC38A8):c.1249C>T (p.Leu417=)	SLC38A8-related disorder [RCV004758277]\|not provided [RCV003547597]	likely benign	16	84009843	84009843	Human	1	name , trait , alternate_id
405221581	CV2880821	single nucleotide variant	NM_001080442.3(SLC38A8):c.1254C>T (p.Val418=)	not provided [RCV003554010]	likely benign	16	84009838	84009838	Human		name
405237523	CV2881198	single nucleotide variant	NM_001080442.3(SLC38A8):c.1125C>T (p.Ile375=)	not provided [RCV003556692]	likely benign	16	84016556	84016556	Human		name
405124277	CV2889523	single nucleotide variant	NM_001080442.3(SLC38A8):c.1017C>T (p.Ala339=)	not provided [RCV003559415]	likely benign	16	84016664	84016664	Human		name
405222765	CV2891146	single nucleotide variant	NM_001080442.3(SLC38A8):c.1212C>G (p.Val404=)	not provided [RCV003554177]	likely benign	16	84013003	84013003	Human		name
405181936	CV2909552	single nucleotide variant	NM_001080442.3(SLC38A8):c.1077C>G (p.Leu359=)	not provided [RCV003564062]	likely benign	16	84016604	84016604	Human		name
405168070	CV2911568	single nucleotide variant	NM_001080442.3(SLC38A8):c.1194G>A (p.Glu398=)	not provided [RCV003562900]	likely benign	16	84013021	84013021	Human		name
402505998	CV2927817	single nucleotide variant	NM_001080442.3(SLC38A8):c.1218C>T (p.Cys406=)	not provided [RCV003574462]	likely benign	16	84009874	84009874	Human		name
402515452	CV2936316	duplication	NM_001080442.3(SLC38A8):c.323dup (p.Leu109fs)	not provided [RCV003662910]	pathogenic	16	84036766	84036767	Human		name
402508417	CV2938349	single nucleotide variant	NM_001080442.3(SLC38A8):c.1176C>T (p.Ile392=)	not provided [RCV003662304]	likely benign	16	84013039	84013039	Human		name
402497560	CV2946629	single nucleotide variant	NM_001080442.3(SLC38A8):c.1248G>A (p.Val416=)	not provided [RCV003661278]	likely benign	16	84009844	84009844	Human		name
405168123	CV2950993	single nucleotide variant	NM_001080442.3(SLC38A8):c.1143C>T (p.Phe381=)	not provided [RCV003675196]	likely benign	16	84016538	84016538	Human		name
405168665	CV2951063	single nucleotide variant	NM_001080442.3(SLC38A8):c.1012C>T (p.Leu338=)	not provided [RCV003675239]	likely benign	16	84016669	84016669	Human		name
405169397	CV2951147	deletion	NM_001080442.3(SLC38A8):c.562del (p.Ala188fs)	not provided [RCV003675295]	pathogenic	16	84031937	84031937	Human		name
405210646	CV2966794	single nucleotide variant	NM_001080442.3(SLC38A8):c.1059G>A (p.Leu353=)	not provided [RCV003679344]	likely benign	16	84016622	84016622	Human		name
405241613	CV2970818	single nucleotide variant	NM_001080442.3(SLC38A8):c.1032G>A (p.Leu344=)	not provided [RCV003684157]	likely benign	16	84016649	84016649	Human		name
405229739	CV2977368	single nucleotide variant	NM_001080442.3(SLC38A8):c.1089G>A (p.Leu363=)	not provided [RCV003711311]	likely benign	16	84016592	84016592	Human		name
405009027	CV2990042	single nucleotide variant	NM_001080442.3(SLC38A8):c.1155C>A (p.Ile385=)	not provided [RCV003693822]	likely benign	16	84016526	84016526	Human		name
402488434	CV2995557	single nucleotide variant	NM_001080442.3(SLC38A8):c.1222C>T (p.Leu408=)	not provided [RCV003687295]	likely benign	16	84009870	84009870	Human		name
404992718	CV2999395	duplication	NM_001080442.3(SLC38A8):c.359dup (p.Arg121fs)	not provided [RCV003692356]	pathogenic	16	84036730	84036731	Human		name
405004674	CV3016553	single nucleotide variant	NM_001080442.3(SLC38A8):c.1182A>T (p.Ala394=)	not provided [RCV003693485]	likely benign	16	84013033	84013033	Human		name
405153925	CV3027948	single nucleotide variant	NM_001080442.3(SLC38A8):c.1087C>T (p.Leu363=)	not provided [RCV003703480]	likely benign	16	84016594	84016594	Human		name
405139391	CV3029714	single nucleotide variant	NM_001080442.3(SLC38A8):c.141G>A (p.Trp47Ter)	not provided [RCV003702377]	pathogenic	16	84042017	84042017	Human		name
405204398	CV3033488	single nucleotide variant	NM_001080442.3(SLC38A8):c.1152C>T (p.Phe384=)	not provided [RCV003707814]	likely benign	16	84016529	84016529	Human		name
402515349	CV3039891	single nucleotide variant	NM_001080442.3(SLC38A8):c.1158C>T (p.Phe386=)	not provided [RCV003715898]	likely benign	16	84016523	84016523	Human		name
405082413	CV3046841	single nucleotide variant	NM_001080442.3(SLC38A8):c.1191C>T (p.Val397=)	not provided [RCV003717235]	likely benign	16	84013024	84013024	Human		name
405218431	CV3048957	single nucleotide variant	NM_001080442.3(SLC38A8):c.1290G>T (p.Ala430=)	not provided [RCV003732894]	benign	16	84009802	84009802	Human		name
405131905	CV3051198	single nucleotide variant	NM_001080442.3(SLC38A8):c.1140C>T (p.Ser380=)	not provided [RCV003724901]	likely benign	16	84016541	84016541	Human		name
405174575	CV3052543	single nucleotide variant	NM_001080442.3(SLC38A8):c.1023C>T (p.Pro341=)	not provided [RCV003728166]	likely benign	16	84016658	84016658	Human		name
405216477	CV3055661	single nucleotide variant	NM_001080442.3(SLC38A8):c.1278C>T (p.Ser426=)	not provided [RCV003732719]	likely benign	16	84009814	84009814	Human		name
405183798	CV3057854	single nucleotide variant	NM_001080442.3(SLC38A8):c.1116C>T (p.Val372=)	not provided [RCV003729060]	likely benign	16	84016565	84016565	Human		name
405210582	CV3059002	single nucleotide variant	NM_001080442.3(SLC38A8):c.1020C>T (p.Asp340=)	not provided [RCV003731947]	benign	16	84016661	84016661	Human		name
405220222	CV3059844	single nucleotide variant	NM_001080442.3(SLC38A8):c.1047G>A (p.Pro349=)	not provided [RCV003733196]	likely benign	16	84016634	84016634	Human		name
405210042	CV3062023	single nucleotide variant	NM_001080442.3(SLC38A8):c.1053C>T (p.Thr351=)	not provided [RCV003731770]	likely benign	16	84016628	84016628	Human		name
405162462	CV3062712	single nucleotide variant	NM_001080442.3(SLC38A8):c.1086G>A (p.Ala362=)	not provided [RCV003727196]	likely benign	16	84016595	84016595	Human		name
405209248	CV3065401	single nucleotide variant	NM_001080442.3(SLC38A8):c.1002G>T (p.Gly334=)	not provided [RCV003731638]	likely benign	16	84016679	84016679	Human		name
405147767	CV3067251	single nucleotide variant	NM_001080442.3(SLC38A8):c.1290G>A (p.Ala430=)	not provided [RCV003726103]	likely benign	16	84009802	84009802	Human		name
405188487	CV3069145	single nucleotide variant	NM_001080442.3(SLC38A8):c.1014G>A (p.Leu338=)	not provided [RCV003729496]	likely benign	16	84016667	84016667	Human		name
405208983	CV3117250	single nucleotide variant	NM_001080442.3(SLC38A8):c.1293C>T (p.Val431=)	not provided [RCV003823037]	likely benign	16	84009799	84009799	Human		name
405187077	CV3120549	single nucleotide variant	NM_001080442.3(SLC38A8):c.1251G>A (p.Leu417=)	not provided [RCV003820631]	likely benign	16	84009841	84009841	Human		name
404982400	CV3121490	single nucleotide variant	NM_001080442.3(SLC38A8):c.1131C>A (p.Gly377=)	not provided [RCV003826289]	likely benign	16	84016550	84016550	Human		name
405175086	CV3122969	single nucleotide variant	NM_001080442.3(SLC38A8):c.1038C>A (p.Val346=)	not provided [RCV003819367]	likely benign	16	84016643	84016643	Human		name
402523467	CV3123566	single nucleotide variant	NM_001080442.3(SLC38A8):c.1242C>G (p.Val414=)	not provided [RCV003824992]	likely benign	16	84009850	84009850	Human		name
405125692	CV3132718	deletion	NM_001080442.3(SLC38A8):c.376del (p.Gln126fs)	not provided [RCV003837881]	pathogenic	16	84036714	84036714	Human		name
405085260	CV3137705	single nucleotide variant	NM_001080442.3(SLC38A8):c.1191C>G (p.Val397=)	not provided [RCV003834414]	likely benign	16	84013024	84013024	Human		name
405077000	CV3140853	single nucleotide variant	NM_001080442.3(SLC38A8):c.1284G>C (p.Ala428=)	not provided [RCV003833816]	likely benign	16	84009808	84009808	Human		name
405194335	CV3146102	single nucleotide variant	NM_001080442.3(SLC38A8):c.1284G>A (p.Ala428=)	not provided [RCV003843649]	likely benign	16	84009808	84009808	Human		name
405199125	CV3147137	single nucleotide variant	NM_001080442.3(SLC38A8):c.1293C>A (p.Val431=)	not provided [RCV003844297]	likely benign	16	84009799	84009799	Human		name
405179384	CV3148788	duplication	NM_001080442.3(SLC38A8):c.995dup (p.Trp333fs)	not provided [RCV003858566]	pathogenic	16	84016685	84016686	Human		name
405229455	CV3153507	single nucleotide variant	NM_001080442.3(SLC38A8):c.160G>T (p.Gly54Ter)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV005240961]\|not provided [RCV003848572]	pathogenic	16	84041998	84041998	Human	1	name
405166303	CV3153608	deletion	NM_001080442.3(SLC38A8):c.724del (p.Met242fs)	not provided [RCV003841153]	pathogenic	16	84022856	84022856	Human		name
405217058	CV3153730	single nucleotide variant	NM_001080442.3(SLC38A8):c.1011C>T (p.Ala337=)	not provided [RCV003846613]	likely benign	16	84016670	84016670	Human		name
405206062	CV3154599	single nucleotide variant	NM_001080442.3(SLC38A8):c.1260C>G (p.Thr420=)	not provided [RCV003845109]	likely benign	16	84009832	84009832	Human		name
405233757	CV3157943	single nucleotide variant	NM_001080442.3(SLC38A8):c.1077C>A (p.Leu359=)	not provided [RCV003865699]	likely benign	16	84016604	84016604	Human		name
405233691	CV3157995	single nucleotide variant	NM_001080442.3(SLC38A8):c.1281G>A (p.Thr427=)	not provided [RCV003865751]	likely benign	16	84009811	84009811	Human		name
405247444	CV3158799	single nucleotide variant	NM_001080442.3(SLC38A8):c.1041G>T (p.Arg347=)	not provided [RCV003869141]	likely benign	16	84016640	84016640	Human		name
405237535	CV3166640	single nucleotide variant	NM_001080442.3(SLC38A8):c.1110G>A (p.Glu370=)	not provided [RCV003854090]	likely benign	16	84016571	84016571	Human		name
405225816	CV3169312	single nucleotide variant	NM_001080442.3(SLC38A8):c.1128A>G (p.Gly376=)	not provided [RCV003864336]	likely benign	16	84016553	84016553	Human		name
402471806	CV3171641	single nucleotide variant	NM_001080442.3(SLC38A8):c.1170C>T (p.Cys390=)	not provided [RCV003874425]	likely benign	16	84013045	84013045	Human		name
405241061	CV3176865	single nucleotide variant	NM_001080442.3(SLC38A8):c.1074G>T (p.Thr358=)	not provided [RCV003867303]	likely benign	16	84016607	84016607	Human		name
404981472	CV3183520	duplication	NM_001080442.3(SLC38A8):c.403dup (p.Leu135fs)	not provided [RCV003880543]	pathogenic	16	84033454	84033455	Human		name
405708842	CV3329082	single nucleotide variant	NM_001080442.3(SLC38A8):c.292C>T (p.Pro98Ser)	Inborn genetic diseases [RCV004461470]	uncertain significance	16	84036798	84036798	Human	1	name
405853995	CV3393731	single nucleotide variant	NM_001080442.3(SLC38A8):c.230G>A (p.Gly77Asp)	not provided [RCV004546957]	uncertain significance	16	84036860	84036860	Human		name
408367466	CV3514052	single nucleotide variant	NM_001080442.3(SLC38A8):c.257C>T (p.Ala86Val)	SLC38A8-related disorder [RCV004758509]	uncertain significance	16	84036833	84036833	Human		name , trait , alternate_id
597897839	CV3744576	single nucleotide variant	NM_001080442.3(SLC38A8):c.1227G>A (p.Glu409=)	not provided [RCV005071854]	likely benign	16	84009865	84009865	Human		name
597936369	CV3759586	single nucleotide variant	NM_001080442.3(SLC38A8):c.116G>T (p.Gly39Val)	not provided [RCV005076706]	uncertain significance	16	84042042	84042042	Human		name
597935742	CV3764721	single nucleotide variant	NM_001080442.3(SLC38A8):c.1059G>T (p.Leu353=)	not provided [RCV005117420]	likely benign	16	84016622	84016622	Human		name
597911853	CV3834159	deletion	NM_001080442.3(SLC38A8):c.898del (p.Val300fs)	not provided [RCV005182921]	pathogenic	16	84017195	84017195	Human		name
597935704	CV3845286	single nucleotide variant	NM_001080442.3(SLC38A8):c.214G>A (p.Gly72Arg)	not provided [RCV005186599]	uncertain significance	16	84036876	84036876	Human		name
597964322	CV3848021	single nucleotide variant	NM_001080442.3(SLC38A8):c.1125C>A (p.Ile375=)	not provided [RCV005193900]	likely benign	16	84016556	84016556	Human		name
598237235	CV3914967	single nucleotide variant	NM_001080442.3(SLC38A8):c.268G>A (p.Gly90Ser)	Inborn genetic diseases [RCV005275616]	uncertain significance	16	84036822	84036822	Human	1	name
598243699	CV3914968	single nucleotide variant	NM_001080442.3(SLC38A8):c.226C>G (p.Leu76Val)	Inborn genetic diseases [RCV005276745]	uncertain significance	16	84036864	84036864	Human	1	name
15167657	CV726825	single nucleotide variant	NM_001080442.3(SLC38A8):c.1113C>T (p.Ile371=)	not provided [RCV000882892]	benign	16	84016568	84016568	Human		name
15191600	CV726826	single nucleotide variant	NM_001080442.3(SLC38A8):c.1074G>A (p.Thr358=)	not provided [RCV000888426]\|not specified [RCV001700492]	benign	16	84016607	84016607	Human		name
15195115	CV755429	single nucleotide variant	NM_001080442.3(SLC38A8):c.1107C>T (p.Ser369=)	SLC38A8-related disorder [RCV003913018]\|not provided [RCV000911323]	likely benign	16	84016574	84016574	Human	1	name , trait , alternate_id
15100723	CV785402	single nucleotide variant	NM_001080442.3(SLC38A8):c.1119C>T (p.Ser373=)	not provided [RCV000975456]	likely benign	16	84016562	84016562	Human		name
15131310	CV785403	single nucleotide variant	NM_001080442.3(SLC38A8):c.1008C>T (p.Ser336=)	not provided [RCV000981191]	likely benign	16	84016673	84016673	Human		name
25318000	CV805894	deletion	NM_001080442.3(SLC38A8):c.837del (p.Val280fs)	not provided [RCV001008358]	pathogenic	16	84017256	84017256	Human		name
40903118	CV976733	single nucleotide variant	NM_001080442.3(SLC38A8):c.264C>G (p.Tyr88Ter)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV001270481]\|not provided [RCV003727968]	pathogenic\|likely pathogenic	16	84036826	84036826	Human	1	name
126740999	CV1021536	single nucleotide variant	NM_001080442.3(SLC38A8):c.922A>G (p.Thr308Ala)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV001336143]\|not provided [RCV002546764]	uncertain significance	16	84017171	84017171	Human	1	name
150480894	CV1222058	single nucleotide variant	NM_001080442.3(SLC38A8):c.659G>C (p.Ser220Thr)	not provided [RCV001616855]	benign	16	84029525	84029525	Human		name
8555258	CV130982	deletion	NM_001080442.3(SLC38A8):c.1002del (p.Ser336fs)	FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS [RCV000111469]\|Inborn genetic diseases [RCV003242982]\|not provided [RCV003556161]	pathogenic	16	84016679	84016679	Human	2	name
8591106	CV130984	single nucleotide variant	NM_001080442.3(SLC38A8):c.697G>A (p.Glu233Lys)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV000111471]\|not provided [RCV003546470]	pathogenic\|likely pathogenic	16	84022883	84022883	Human	1	name
8591107	CV130985	single nucleotide variant	NM_001080442.3(SLC38A8):c.598C>T (p.Gln200Ter)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV002490757]\|Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis [RCV000111472]\|not provided [RCV003556162]	pathogenic\|likely pathogenic	16	84031901	84031901	Human	1	name
151858731	CV1403557	single nucleotide variant	NM_001080442.3(SLC38A8):c.487C>T (p.Pro163Ser)	Inborn genetic diseases [RCV002563498]\|not provided [RCV001996855]	uncertain significance	16	84033371	84033371	Human	1	name
151882312	CV1443177	single nucleotide variant	NM_001080442.3(SLC38A8):c.919G>C (p.Val307Leu)	not provided [RCV002037115]	uncertain significance	16	84017174	84017174	Human		name
152053447	CV1523729	single nucleotide variant	NM_001080442.3(SLC38A8):c.743C>G (p.Ser248Cys)	not provided [RCV002127504]	benign	16	84022837	84022837	Human		name
152060969	CV1557503	single nucleotide variant	NM_001080442.3(SLC38A8):c.440C>G (p.Ala147Gly)	SLC38A8-related disorder [RCV003970957]\|not provided [RCV002146770]	benign	16	84033418	84033418	Human	1	name , trait , alternate_id
153348629	CV1692673	single nucleotide variant	NM_001080442.3(SLC38A8):c.803C>T (p.Thr268Met)	not provided [RCV002274528]	uncertain significance	16	84022777	84022777	Human		name
153348878	CV1692923	single nucleotide variant	NM_001080442.3(SLC38A8):c.425C>T (p.Pro142Leu)	Inborn genetic diseases [RCV004965852]\|not provided [RCV002274779]	uncertain significance	16	84033433	84033433	Human	1	name
155642944	CV1707584	single nucleotide variant	NM_001080442.3(SLC38A8):c.682G>C (p.Gly228Arg)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV002289045]\|not specified [RCV004801190]	uncertain significance	16	84029502	84029502	Human	1	name
156418451	CV1911127	single nucleotide variant	NM_001080442.3(SLC38A8):c.416C>T (p.Pro139Leu)	Inborn genetic diseases [RCV002611645]\|not provided [RCV002611644]	uncertain significance	16	84033442	84033442	Human	1	name
156204175	CV1913045	single nucleotide variant	NM_001080442.3(SLC38A8):c.914C>G (p.Ser305Cys)	not provided [RCV002595815]	uncertain significance	16	84017179	84017179	Human		name
156019161	CV1914857	single nucleotide variant	NM_001080442.3(SLC38A8):c.370G>A (p.Gly124Arg)	not provided [RCV002636620]	uncertain significance	16	84036720	84036720	Human		name
155944765	CV1935550	single nucleotide variant	NM_001080442.3(SLC38A8):c.538G>C (p.Gly180Arg)	not provided [RCV002511297]	uncertain significance	16	84031961	84031961	Human		name
156437734	CV1947749	single nucleotide variant	NM_001080442.3(SLC38A8):c.448C>T (p.Arg150Cys)	not provided [RCV003107276]	uncertain significance	16	84033410	84033410	Human		name
156300471	CV1955534	single nucleotide variant	NM_001080442.3(SLC38A8):c.305A>G (p.Lys102Arg)	not provided [RCV002578205]	uncertain significance	16	84036785	84036785	Human		name
156044962	CV1977998	single nucleotide variant	NM_001080442.3(SLC38A8):c.589C>T (p.Leu197Phe)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV003138300]\|not provided [RCV002590464]	uncertain significance	16	84031910	84031910	Human	1	name
156311015	CV2000083	single nucleotide variant	NM_001080442.3(SLC38A8):c.896G>A (p.Arg299Gln)	not provided [RCV002671635]	uncertain significance	16	84017197	84017197	Human		name
156139104	CV2109788	single nucleotide variant	NM_001080442.3(SLC38A8):c.673A>G (p.Ile225Val)	Inborn genetic diseases [RCV004966194]\|not provided [RCV002928487]	uncertain significance	16	84029511	84029511	Human	1	name
156277391	CV2137330	single nucleotide variant	NM_001080442.3(SLC38A8):c.439G>A (p.Ala147Thr)	not provided [RCV003009477]	uncertain significance	16	84033419	84033419	Human		name
155923884	CV2212468	single nucleotide variant	NM_001080442.3(SLC38A8):c.916A>G (p.Ile306Val)	Inborn genetic diseases [RCV002727822]	uncertain significance	16	84017177	84017177	Human	1	name
156331261	CV2218136	single nucleotide variant	NM_001080442.3(SLC38A8):c.507G>T (p.Glu169Asp)	Inborn genetic diseases [RCV002673344]	uncertain significance	16	84033351	84033351	Human	1	name
156297421	CV2297674	single nucleotide variant	NM_001080442.3(SLC38A8):c.710C>G (p.Ser237Cys)	Inborn genetic diseases [RCV002879358]	uncertain significance	16	84022870	84022870	Human	1	name
156360197	CV2328420	single nucleotide variant	NM_001080442.3(SLC38A8):c.923C>T (p.Thr308Ile)	Inborn genetic diseases [RCV002941224]	uncertain significance	16	84017170	84017170	Human	1	name
156303163	CV2331765	single nucleotide variant	NM_001080442.3(SLC38A8):c.794A>G (p.Tyr265Cys)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV003140193]\|Inborn genetic diseases [RCV002936541]	uncertain significance	16	84022786	84022786	Human	2	name
156082801	CV2334045	single nucleotide variant	NM_001080442.3(SLC38A8):c.472G>A (p.Val158Met)	Inborn genetic diseases [RCV002926271]	uncertain significance	16	84033386	84033386	Human	1	name
156389711	CV2380767	single nucleotide variant	NM_001080442.3(SLC38A8):c.511G>A (p.Ala171Thr)	Inborn genetic diseases [RCV002680617]	uncertain significance	16	84033347	84033347	Human	1	name
155907351	CV2389855	single nucleotide variant	NM_001080442.3(SLC38A8):c.919G>A (p.Val307Ile)	Inborn genetic diseases [RCV002749659]	uncertain significance	16	84017174	84017174	Human	1	name
329381161	CV2440685	single nucleotide variant	NM_001080442.3(SLC38A8):c.650C>G (p.Ser217Cys)	Inborn genetic diseases [RCV003175623]	uncertain significance	16	84029534	84029534	Human	1	name
401727021	CV2684434	single nucleotide variant	NM_001080442.3(SLC38A8):c.886A>T (p.Ile296Phe)	Inborn genetic diseases [RCV003269839]	uncertain significance	16	84017207	84017207	Human	1	name
401776479	CV2689154	single nucleotide variant	NM_001080442.3(SLC38A8):c.370G>C (p.Gly124Arg)	Inborn genetic diseases [RCV003286443]	uncertain significance	16	84036720	84036720	Human	1	name
401768635	CV2716680	single nucleotide variant	NM_001080442.3(SLC38A8):c.827T>G (p.Phe276Cys)	Inborn genetic diseases [RCV003283255]	uncertain significance	16	84017266	84017266	Human	1	name
401760647	CV2718910	single nucleotide variant	NM_001080442.3(SLC38A8):c.856A>G (p.Met286Val)	Inborn genetic diseases [RCV003299591]	uncertain significance	16	84017237	84017237	Human	1	name
401770178	CV2719076	single nucleotide variant	NM_001080442.3(SLC38A8):c.887T>C (p.Ile296Thr)	Inborn genetic diseases [RCV003303920]	uncertain significance	16	84017206	84017206	Human	1	name
11639580	CV274661	single nucleotide variant	NM_001080442.3(SLC38A8):c.617C>G (p.Ser206Cys)	not provided [RCV000323453]	uncertain significance	16	84031882	84031882	Human		name
401872018	CV2792956	single nucleotide variant	NM_001080442.3(SLC38A8):c.526A>G (p.Thr176Ala)	Inborn genetic diseases [RCV003381687]	uncertain significance	16	84033332	84033332	Human	1	name
402518150	CV2870841	single nucleotide variant	NM_001080442.3(SLC38A8):c.385A>T (p.Lys129Ter)	not provided [RCV003547555]	pathogenic	16	84036705	84036705	Human		name
405215340	CV2876068	single nucleotide variant	NM_001080442.3(SLC38A8):c.319T>G (p.Cys107Gly)	SLC38A8-related disorder [RCV004758278]\|not provided [RCV003553119]	likely benign	16	84036771	84036771	Human	1	name , trait , alternate_id
402491437	CV2877704	single nucleotide variant	NM_001080442.3(SLC38A8):c.697G>T (p.Glu233Ter)	not provided [RCV003544983]	pathogenic	16	84022883	84022883	Human		name
402504702	CV2880127	single nucleotide variant	NM_001080442.3(SLC38A8):c.808G>A (p.Val270Ile)	SLC38A8-related disorder [RCV004731544]\|not provided [RCV003546251]	likely benign	16	84017285	84017285	Human	1	name , trait , alternate_id
405166791	CV2902208	single nucleotide variant	NM_001080442.3(SLC38A8):c.797C>G (p.Ser266Ter)	not provided [RCV003562748]	pathogenic	16	84022783	84022783	Human		name
402497704	CV2906112	single nucleotide variant	NM_001080442.3(SLC38A8):c.558C>G (p.Tyr186Ter)	not provided [RCV003573671]	pathogenic	16	84031941	84031941	Human		name
402467314	CV2910441	single nucleotide variant	NM_001080442.3(SLC38A8):c.680T>A (p.Phe227Tyr)	not provided [RCV003569646]	likely benign	16	84029504	84029504	Human		name
402524261	CV2940466	single nucleotide variant	NM_001080442.3(SLC38A8):c.585C>G (p.Tyr195Ter)	not provided [RCV003663534]	pathogenic	16	84031914	84031914	Human		name
405081089	CV2945657	single nucleotide variant	NM_001080442.3(SLC38A8):c.688C>T (p.Gln230Ter)	not provided [RCV003664597]	pathogenic	16	84029496	84029496	Human		name
405133443	CV3018319	single nucleotide variant	NM_001080442.3(SLC38A8):c.434G>A (p.Trp145Ter)	not provided [RCV003701900]	pathogenic	16	84033424	84033424	Human		name
405207599	CV3064682	single nucleotide variant	NM_001080442.3(SLC38A8):c.964C>T (p.Gln322Ter)	not provided [RCV003731536]	pathogenic	16	84016717	84016717	Human		name
405150375	CV3123321	single nucleotide variant	NM_001080442.3(SLC38A8):c.930C>A (p.Tyr310Ter)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV005014990]\|not provided [RCV003817554]	pathogenic\|likely pathogenic	16	84017163	84017163	Human	1	name
405110137	CV3133101	single nucleotide variant	NM_001080442.3(SLC38A8):c.427C>T (p.Gln143Ter)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV005356545]\|not provided [RCV003836087]	pathogenic\|likely pathogenic	16	84033431	84033431	Human	1	name
405708874	CV3329086	single nucleotide variant	NM_001080442.3(SLC38A8):c.779C>T (p.Ala260Val)	Inborn genetic diseases [RCV004461474]	uncertain significance	16	84022801	84022801	Human	1	name
405855410	CV3394173	deletion	NM_001080442.3(SLC38A8):c.1053del (p.Ile352fs)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV004547400]	likely pathogenic	16	84016628	84016628	Human	1	name
407451637	CV3484566	single nucleotide variant	NM_001080442.3(SLC38A8):c.994G>C (p.Gly332Arg)	Inborn genetic diseases [RCV004683727]	uncertain significance	16	84016687	84016687	Human	1	name
407451640	CV3484568	single nucleotide variant	NM_001080442.3(SLC38A8):c.999G>C (p.Trp333Cys)	Inborn genetic diseases [RCV004683728]	likely benign	16	84016682	84016682	Human	1	name
407574165	CV3498514	single nucleotide variant	NM_001080442.3(SLC38A8):c.697G>C (p.Glu233Gln)	not specified [RCV004702989]	uncertain significance	16	84022883	84022883	Human		name
408367485	CV3515355	single nucleotide variant	NM_001080442.3(SLC38A8):c.929A>C (p.Tyr310Ser)	SLC38A8-related disorder [RCV004758531]	uncertain significance	16	84017164	84017164	Human		name , trait , alternate_id
596928647	CV3541590	single nucleotide variant	NM_001080442.3(SLC38A8):c.884T>A (p.Ile295Asn)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV004797462]	uncertain significance	16	84017209	84017209	Human	1	name
597626995	CV3599921	single nucleotide variant	NM_001080442.3(SLC38A8):c.334C>G (p.Leu112Val)	Inborn genetic diseases [RCV004966304]	uncertain significance	16	84036756	84036756	Human	1	name
597627000	CV3599923	single nucleotide variant	NM_001080442.3(SLC38A8):c.808G>T (p.Val270Phe)	Inborn genetic diseases [RCV004966306]	uncertain significance	16	84017285	84017285	Human	1	name
597627006	CV3599925	single nucleotide variant	NM_001080442.3(SLC38A8):c.542C>G (p.Thr181Ser)	Inborn genetic diseases [RCV004966308]	uncertain significance	16	84031957	84031957	Human	1	name
597627012	CV3599927	single nucleotide variant	NM_001080442.3(SLC38A8):c.991G>A (p.Gly331Arg)	Inborn genetic diseases [RCV004966310]	likely benign	16	84016690	84016690	Human	1	name
597627014	CV3599928	single nucleotide variant	NM_001080442.3(SLC38A8):c.712A>G (p.Ile238Val)	Inborn genetic diseases [RCV004966311]	uncertain significance	16	84022868	84022868	Human	1	name
12742293	CV360301	single nucleotide variant	NM_001080442.3(SLC38A8):c.848A>C (p.Asp283Ala)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV000991179]\|not provided [RCV000413331]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	16	84017245	84017245	Human	1	name
597759107	CV3715696	single nucleotide variant	NM_001080442.3(SLC38A8):c.580C>T (p.Gln194Ter)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV005017833]	likely pathogenic	16	84031919	84031919	Human	1	name
12849417	CV375541	single nucleotide variant	NM_001080442.3(SLC38A8):c.913T>C (p.Ser305Pro)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV001255623]\|not provided [RCV000429596]	likely pathogenic	16	84017180	84017180	Human	1	name
597873629	CV3766016	single nucleotide variant	NM_001080442.3(SLC38A8):c.619C>T (p.His207Tyr)	Inborn genetic diseases [RCV005269147]\|not provided [RCV005108147]	uncertain significance	16	84031880	84031880	Human	1	name
597952966	CV3798868	single nucleotide variant	NM_001080442.3(SLC38A8):c.539G>A (p.Gly180Asp)	not provided [RCV005136442]	uncertain significance	16	84031960	84031960	Human		name
597851784	CV3824729	single nucleotide variant	NM_001080442.3(SLC38A8):c.994G>T (p.Gly332Ter)	not provided [RCV005173768]	pathogenic	16	84016687	84016687	Human		name
598243695	CV3914966	single nucleotide variant	NM_001080442.3(SLC38A8):c.379C>G (p.Leu127Val)	Inborn genetic diseases [RCV005276744]	uncertain significance	16	84036711	84036711	Human	1	name
598243724	CV3914973	single nucleotide variant	NM_001080442.3(SLC38A8):c.320G>C (p.Cys107Ser)	Inborn genetic diseases [RCV005276750]	uncertain significance	16	84036770	84036770	Human	1	name
598243732	CV3914974	single nucleotide variant	NM_001080442.3(SLC38A8):c.878T>C (p.Met293Thr)	Inborn genetic diseases [RCV005276751]	uncertain significance	16	84017215	84017215	Human	1	name
616934286	CV4012282	single nucleotide variant	NM_001080442.3(SLC38A8):c.682G>A (p.Gly228Arg)	not specified [RCV005409318]	uncertain significance	16	84029502	84029502	Human		name
616940131	CV4014562	deletion	NM_001080442.3(SLC38A8):c.1030del (p.Leu344fs)	not provided [RCV005414056]	pathogenic	16	84016651	84016651	Human		name
15161744	CV703852	single nucleotide variant	NM_001080442.3(SLC38A8):c.628C>G (p.Leu210Val)	Inborn genetic diseases [RCV002548239]\|SLC38A8-related disorder [RCV004758100]\|not provided [RCV000947728]\|not specified [RCV001701257]	benign\|likely benign\|uncertain significance	16	84031871	84031871	Human	2	name , trait , alternate_id
15173008	CV740393	single nucleotide variant	NM_001080442.3(SLC38A8):c.961A>T (p.Met321Leu)	SLC38A8-related disorder [RCV004758082]\|not provided [RCV000905782]	benign	16	84016720	84016720	Human	1	name , trait , alternate_id
15155765	CV740396	single nucleotide variant	NM_001080442.3(SLC38A8):c.662T>A (p.Val221Asp)	not provided [RCV000902202]	likely benign	16	84029522	84029522	Human		name
25318544	CV805895	single nucleotide variant	NM_001080442.3(SLC38A8):c.445C>T (p.Gln149Ter)	not provided [RCV001008688]	pathogenic	16	84033413	84033413	Human		name
40903119	CV976730	single nucleotide variant	NM_001080442.3(SLC38A8):c.698A>G (p.Glu233Gly)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV001270482]	likely pathogenic	16	84022882	84022882	Human	1	name
40903120	CV976732	single nucleotide variant	NM_001080442.3(SLC38A8):c.435G>A (p.Trp145Ter)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV001270483]	pathogenic	16	84033423	84033423	Human	1	name
150541828	CV1302387	single nucleotide variant	NM_001080442.3(SLC38A8):c.1256G>T (p.Gly419Val)	not provided [RCV001761077]	uncertain significance	16	84009836	84009836	Human		name
8555293	CV130983	single nucleotide variant	NM_001080442.3(SLC38A8):c.1234G>A (p.Gly412Arg)	FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING [RCV000111470]	pathogenic	16	84009858	84009858	Human		name
151771472	CV1360737	single nucleotide variant	NM_001080442.3(SLC38A8):c.1205C>T (p.Pro402Leu)	not provided [RCV001864115]	uncertain significance	16	84013010	84013010	Human		name
151804316	CV1371783	single nucleotide variant	NM_001080442.3(SLC38A8):c.1243T>G (p.Ser415Ala)	not provided [RCV001953217]	uncertain significance	16	84009849	84009849	Human		name
151751818	CV1457368	single nucleotide variant	NM_001080442.3(SLC38A8):c.1181C>T (p.Ala394Val)	not provided [RCV001913058]	uncertain significance	16	84013034	84013034	Human		name
152052810	CV1523639	single nucleotide variant	NM_001080442.3(SLC38A8):c.1305C>G (p.Phe435Leu)	SLC38A8-related disorder [RCV003970954]\|not provided [RCV002127441]	benign\|likely benign	16	84009787	84009787	Human	1	name , trait , alternate_id
156132782	CV2113107	single nucleotide variant	NM_001080442.3(SLC38A8):c.1018G>A (p.Asp340Asn)	Inborn genetic diseases [RCV002942091]\|not provided [RCV002928265]	uncertain significance	16	84016663	84016663	Human	1	name
156310259	CV2133189	single nucleotide variant	NM_001080442.3(SLC38A8):c.1067C>A (p.Thr356Asn)	not provided [RCV003011068]	likely benign	16	84016614	84016614	Human		name
156259983	CV2216294	single nucleotide variant	NM_001080442.3(SLC38A8):c.1130G>T (p.Gly377Val)	Inborn genetic diseases [RCV002702966]	uncertain significance	16	84016551	84016551	Human	1	name
155925183	CV2248969	single nucleotide variant	NM_001080442.3(SLC38A8):c.1046C>T (p.Pro349Leu)	Inborn genetic diseases [RCV002773541]	uncertain significance	16	84016635	84016635	Human	1	name
155964042	CV2282798	single nucleotide variant	NM_001080442.3(SLC38A8):c.1022C>T (p.Pro341Leu)	Inborn genetic diseases [RCV002841593]	uncertain significance	16	84016659	84016659	Human	1	name
156245312	CV2283416	single nucleotide variant	NM_001080442.3(SLC38A8):c.1276A>G (p.Ser426Gly)	Inborn genetic diseases [RCV002854497]	uncertain significance	16	84009816	84009816	Human	1	name
156055179	CV2343377	single nucleotide variant	NM_001080442.3(SLC38A8):c.1107C>G (p.Ser369Arg)	Inborn genetic diseases [RCV002978025]	uncertain significance	16	84016574	84016574	Human	1	name
156008955	CV2361937	single nucleotide variant	NM_001080442.3(SLC38A8):c.1289C>T (p.Ala430Val)	Inborn genetic diseases [RCV002997633]	uncertain significance	16	84009803	84009803	Human	1	name
156136460	CV2364947	single nucleotide variant	NM_001080442.3(SLC38A8):c.1183A>G (p.Met395Val)	Inborn genetic diseases [RCV002708793]	likely benign	16	84013032	84013032	Human	1	name
329387794	CV2446805	single nucleotide variant	NM_001080442.3(SLC38A8):c.1114G>A (p.Val372Ile)	Inborn genetic diseases [RCV003190288]	likely benign	16	84016567	84016567	Human	1	name
329401425	CV2460836	single nucleotide variant	NM_001080442.3(SLC38A8):c.1085C>T (p.Ala362Val)	Inborn genetic diseases [RCV003198406]	likely benign	16	84016596	84016596	Human	1	name
401769542	CV2731383	single nucleotide variant	NM_001080442.3(SLC38A8):c.1277G>C (p.Ser426Thr)	Inborn genetic diseases [RCV003283735]	uncertain significance	16	84009815	84009815	Human	1	name
405260846	CV3204332	single nucleotide variant	NM_001080442.3(SLC38A8):c.1021C>T (p.Pro341Ser)	SLC38A8-related disorder [RCV003944167]	likely benign	16	84016660	84016660	Human		name , trait , alternate_id
405708837	CV3329081	single nucleotide variant	NM_001080442.3(SLC38A8):c.1204C>T (p.Pro402Ser)	Inborn genetic diseases [RCV004461469]	uncertain significance	16	84013011	84013011	Human	1	name
407428251	CV3410144	single nucleotide variant	NM_001080442.3(SLC38A8):c.1126G>A (p.Gly376Arg)	not specified [RCV004587751]	uncertain significance	16	84016555	84016555	Human		name
407514716	CV3484565	single nucleotide variant	NM_001080442.3(SLC38A8):c.1078G>T (p.Ala360Ser)	Inborn genetic diseases [RCV004674671]	uncertain significance	16	84016603	84016603	Human	1	name
407514719	CV3484567	single nucleotide variant	NM_001080442.3(SLC38A8):c.1170C>G (p.Cys390Trp)	Inborn genetic diseases [RCV004674672]	uncertain significance	16	84013045	84013045	Human	1	name
407451642	CV3484569	single nucleotide variant	NM_001080442.3(SLC38A8):c.1233G>C (p.Trp411Cys)	Inborn genetic diseases [RCV004683729]	uncertain significance	16	84009859	84009859	Human	1	name
408391689	CV3521449	single nucleotide variant	NM_001080442.3(SLC38A8):c.1255G>T (p.Gly419Cys)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV004763269]	uncertain significance	16	84009837	84009837	Human	1	name
408391312	CV3523144	single nucleotide variant	NM_001080442.3(SLC38A8):c.1003C>T (p.Pro335Ser)	not provided [RCV004770516]	uncertain significance	16	84016678	84016678	Human		name
597627004	CV3599924	single nucleotide variant	NM_001080442.3(SLC38A8):c.1083G>A (p.Met361Ile)	Inborn genetic diseases [RCV004966307]	uncertain significance	16	84016598	84016598	Human	1	name
597627009	CV3599926	single nucleotide variant	NM_001080442.3(SLC38A8):c.1171C>T (p.Leu391Phe)	Inborn genetic diseases [RCV004966309]	uncertain significance	16	84013044	84013044	Human	1	name
597627017	CV3599929	single nucleotide variant	NM_001080442.3(SLC38A8):c.1066A>C (p.Thr356Pro)	Inborn genetic diseases [RCV004966312]	uncertain significance	16	84016615	84016615	Human	1	name
597854091	CV3762424	single nucleotide variant	NM_001080442.3(SLC38A8):c.1306T>C (p.Ter436Arg)	not specified [RCV005088340]	uncertain significance	16	84009786	84009786	Human		name
597873622	CV3766015	single nucleotide variant	NM_001080442.3(SLC38A8):c.1289C>A (p.Ala430Glu)	Inborn genetic diseases [RCV005283590]\|not provided [RCV005108146]	uncertain significance	16	84009803	84009803	Human	1	name
598237229	CV3914964	single nucleotide variant	NM_001080442.3(SLC38A8):c.1108G>A (p.Glu370Lys)	Inborn genetic diseases [RCV005275615]	uncertain significance	16	84016573	84016573	Human	1	name
598243703	CV3914969	single nucleotide variant	NM_001080442.3(SLC38A8):c.1208G>C (p.Arg403Thr)	Inborn genetic diseases [RCV005276746]	uncertain significance	16	84013007	84013007	Human	1	name
598243707	CV3914970	single nucleotide variant	NM_001080442.3(SLC38A8):c.1016C>G (p.Ala339Gly)	Inborn genetic diseases [RCV005276747]	uncertain significance	16	84016665	84016665	Human	1	name
15200867	CV703851	single nucleotide variant	NM_001080442.3(SLC38A8):c.1280C>T (p.Thr427Met)	not provided [RCV000957455]	benign	16	84009812	84009812	Human		name
15126811	CV715113	single nucleotide variant	NM_001080442.3(SLC38A8):c.1027G>C (p.Gly343Arg)	not provided [RCV000963803]\|not specified [RCV001700954]	benign	16	84016654	84016654	Human		name
15171277	CV740392	single nucleotide variant	NM_001080442.3(SLC38A8):c.1291G>A (p.Val431Ile)	SLC38A8-related disorder [RCV003950647]\|not provided [RCV000905435]	likely benign	16	84009801	84009801	Human	1	name , trait , alternate_id
405130373	CV2953670	microsatellite	NM_001080442.3(SLC38A8):c.272_273dup (p.Val92fs)	not provided [RCV003672355]	pathogenic	16	84036816	84036817	Human		name
8555259	CV130986	microsatellite	NM_001080442.3(SLC38A8):c.842CTG[1] (p.Ala282del)	Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis [RCV000111473]	pathogenic	16	84017246	84017248	Human		name
150544955	CV1315350	deletion	NM_001080442.3(SLC38A8):c.895_901del (p.Arg299fs)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV001783765]	likely pathogenic	16	84017192	84017198	Human	1	name
405174244	CV2955422	microsatellite	NM_001080442.3(SLC38A8):c.421_424dup (p.Pro142fs)	not provided [RCV003675628]	pathogenic	16	84033433	84033434	Human		name
21405194	CV679693	deletion	NM_001080442.3(SLC38A8):c.490_491del (p.Leu164fs)	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome [RCV001007575]\|Foveal hypoplasia [RCV001003223]	pathogenic	16	84033367	84033368	Human	3	name
150452505	CV1254974	insertion	NM_001080442.3(SLC38A8):c.633-165_633-164insTCCTCT	not provided [RCV001668033]	benign	16	84029715	84029716	Human		name
152137333	CV1581434	indel	NM_001080442.3(SLC38A8):c.960_961delinsAT (p.Met321Leu)	not provided [RCV002100293]	likely benign	16	84016720	84016721	Human		name
8591105	CV130981	single nucleotide variant	NM_001080442.3(SLC38A8):c.707T>A (p.Val236Asp) AND FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING	FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS [RCV000111468]	pathogenic	16	84022873	84022873	Human		name

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