Slc7a7 Variant Search Result - Rat Genome Database

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845 records found for search term Slc7a7

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8559176	CV21244	single nucleotide variant	SLC7A7, IVS6AS, A-T, -2	Lysinuric protein intolerance [RCV000006583]	pathogenic				Human		name
8559184	CV21252	single nucleotide variant	SLC7A7, IVS4DS, G-A, +1	Lysinuric protein intolerance [RCV000006591]	pathogenic				Human		name
8559178	CV21246	insertion	SLC7A7, 4-BP INS, 1384ATCA	Lysinuric protein intolerance [RCV000006585]	pathogenic				Human		name
8559181	CV21249	deletion	SLC7A7, 4-BP DEL, 1005CTTT	Lysinuric protein intolerance [RCV000006588]	pathogenic				Human		name
12833603	CV375935	single nucleotide variant	NM_003982.4(SLC7A7):c.*8C>G	not specified [RCV000418831]	likely benign	14	22773602	22773602	Human		name
11653308	CV335527	single nucleotide variant	NM_003982.4(SLC7A7):c.-73G>A	Lysinuric protein intolerance [RCV000310311]	uncertain significance	14	22815350	22815350	Human	1	name
11621737	CV337388	single nucleotide variant	NM_003982.4(SLC7A7):c.*16C>T	Lysinuric protein intolerance [RCV000352091]	uncertain significance	14	22773594	22773594	Human	1	name
11617679	CV337419	single nucleotide variant	NM_003982.4(SLC7A7):c.-18G>A	Lysinuric protein intolerance [RCV000306989]\|SLC7A7-related disorder [RCV003910169]\|not provided [RCV004705286]\|not specified [RCV000417698]	likely benign\|uncertain significance	14	22813416	22813416	Human	1	name , trait , alternate_id
11663735	CV337423	single nucleotide variant	NM_003982.4(SLC7A7):c.-66C>A	Lysinuric protein intolerance [RCV000398837]	uncertain significance	14	22815343	22815343	Human	1	name
11623005	CV337424	single nucleotide variant	NM_003982.4(SLC7A7):c.-86T>C	Lysinuric protein intolerance [RCV000367365]\|not provided [RCV001672495]	benign	14	22815363	22815363	Human	1	name
597688798	CV3710752	single nucleotide variant	NM_003982.4(SLC7A7):c.-10C>T	Lysinuric protein intolerance [RCV005007167]	uncertain significance	14	22813408	22813408	Human	1	name
151872335	CV1336755	single nucleotide variant	NM_003982.4(SLC7A7):c.*134A>G	not provided [RCV001885430]	likely benign	14	22773476	22773476	Human		name
151863979	CV1336756	deletion	NM_003982.4(SLC7A7):c.*145del	not provided [RCV002034803]	likely benign	14	22773465	22773465	Human		name
11662491	CV320318	single nucleotide variant	NM_003982.4(SLC7A7):c.*246G>C	Lysinuric protein intolerance [RCV000386760]	uncertain significance	14	22773364	22773364	Human	1	name
11616203	CV337382	single nucleotide variant	NM_003982.4(SLC7A7):c.*141T>G	Lysinuric protein intolerance [RCV000292465]	likely benign\|uncertain significance	14	22773469	22773469	Human	1	name
28911993	CV871718	single nucleotide variant	NM_003982.4(SLC7A7):c.*272C>T	Autoinflammatory syndrome [RCV002264186]\|Lysinuric protein intolerance [RCV001111463]\|not provided [RCV001593273]	likely benign\|uncertain significance	14	22773338	22773338	Human	2	name
28911994	CV871719	single nucleotide variant	NM_003982.4(SLC7A7):c.*235G>C	Lysinuric protein intolerance [RCV001111464]	uncertain significance	14	22773375	22773375	Human	1	name
28911995	CV871720	single nucleotide variant	NM_003982.4(SLC7A7):c.*227G>A	Lysinuric protein intolerance [RCV001111465]	uncertain significance	14	22773383	22773383	Human	1	name
28911996	CV871721	single nucleotide variant	NM_003982.4(SLC7A7):c.*225G>A	Lysinuric protein intolerance [RCV001111466]	uncertain significance	14	22773385	22773385	Human	1	name
28911997	CV871722	single nucleotide variant	NM_003982.4(SLC7A7):c.*205A>C	Lysinuric protein intolerance [RCV001111467]	uncertain significance	14	22773405	22773405	Human	1	name
28870238	CV871723	single nucleotide variant	NM_003982.4(SLC7A7):c.*114C>T	Lysinuric protein intolerance [RCV001113469]	uncertain significance	14	22773496	22773496	Human	1	name
126744593	CV1031493	single nucleotide variant	NM_003982.4(SLC7A7):c.770+9T>G	Lysinuric protein intolerance [RCV001351300]	likely benign\|uncertain significance	14	22778784	22778784	Human	1	name
127251864	CV1056167	single nucleotide variant	NM_003982.4(SLC7A7):c.770+1G>T	Lysinuric protein intolerance [RCV001378639]	likely pathogenic	14	22778792	22778792	Human	1	name
127279770	CV1080355	single nucleotide variant	NM_003982.4(SLC7A7):c.770+7A>G	Lysinuric protein intolerance [RCV001409326]	likely benign	14	22778786	22778786	Human	1	name
127290491	CV1123613	single nucleotide variant	NM_003982.4(SLC7A7):c.499+9G>T	Lysinuric protein intolerance [RCV001458452]	likely benign	14	22812891	22812891	Human	1	name
127324267	CV1144455	single nucleotide variant	NM_003982.4(SLC7A7):c.999-5C>T	Lysinuric protein intolerance [RCV001485442]	likely benign	14	22775545	22775545	Human	1	name
151778149	CV1370594	single nucleotide variant	NM_003982.4(SLC7A7):c.998+5G>A	Lysinuric protein intolerance [RCV001864711]	uncertain significance	14	22775828	22775828	Human	1	name
151755323	CV1425948	deletion	NM_003982.4(SLC7A7):c.770+1del	Lysinuric protein intolerance [RCV002007271]	pathogenic\|likely pathogenic	14	22778792	22778792	Human	1	name
151852001	CV1458908	single nucleotide variant	NM_003982.4(SLC7A7):c.625+5G>T	Lysinuric protein intolerance [RCV002016712]	uncertain significance	14	22779921	22779921	Human	1	name
151737257	CV1489805	single nucleotide variant	NM_003982.4(SLC7A7):c.625+1G>T	Lysinuric protein intolerance [RCV001892901]	pathogenic\|likely pathogenic	14	22779925	22779925	Human	1	name
152112065	CV1604041	single nucleotide variant	NM_003982.4(SLC7A7):c.998+9G>A	Lysinuric protein intolerance [RCV002096987]	likely benign	14	22775824	22775824	Human	1	name
156012421	CV2013033	single nucleotide variant	NM_003982.4(SLC7A7):c.998+8T>C	Lysinuric protein intolerance [RCV002734966]	likely benign	14	22775825	22775825	Human	1	name
156282059	CV2042897	single nucleotide variant	NM_003982.4(SLC7A7):c.999-4A>G	Lysinuric protein intolerance [RCV002770422]	likely benign	14	22775544	22775544	Human	1	name
156221606	CV2080891	single nucleotide variant	NM_003982.4(SLC7A7):c.895-7C>G	Lysinuric protein intolerance [RCV002853232]	likely benign	14	22775943	22775943	Human	1	name
156234615	CV2145124	single nucleotide variant	NM_003982.4(SLC7A7):c.895-6C>T	Lysinuric protein intolerance [RCV003007871]	likely benign	14	22775942	22775942	Human	1	name
156336165	CV2178146	single nucleotide variant	NM_003982.4(SLC7A7):c.894+1G>C	Lysinuric protein intolerance [RCV003047488]	pathogenic	14	22776194	22776194	Human	1	name
401921095	CV2802001	single nucleotide variant	NM_003982.4(SLC7A7):c.999-1G>T	SLC7A7-related disorder [RCV003402760]	likely pathogenic	14	22775541	22775541	Human		name , trait , alternate_id
401949181	CV2836556	single nucleotide variant	NM_003982.4(SLC7A7):c.626-2A>T	Lysinuric protein intolerance [RCV003472954]	likely pathogenic	14	22778939	22778939	Human	1	name
401949189	CV2836572	single nucleotide variant	NM_003982.4(SLC7A7):c.999-1G>C	Lysinuric protein intolerance [RCV003474036]	likely pathogenic	14	22775541	22775541	Human	1	name
402490178	CV2853626	single nucleotide variant	NM_003982.4(SLC7A7):c.894+8A>G	Lysinuric protein intolerance [RCV003507547]	likely benign	14	22776187	22776187	Human	1	name
402496582	CV2879268	single nucleotide variant	NM_003982.4(SLC7A7):c.770+1G>A	Lysinuric protein intolerance [RCV003508251]	likely pathogenic	14	22778792	22778792	Human	1	name
402502264	CV2898938	single nucleotide variant	NM_003982.4(SLC7A7):c.626-2A>G	Lysinuric protein intolerance [RCV003508866]	likely pathogenic	14	22778939	22778939	Human	1	name
402486587	CV2909207	single nucleotide variant	NM_003982.4(SLC7A7):c.625+8A>G	Lysinuric protein intolerance [RCV003507049]	likely benign	14	22779918	22779918	Human	1	name
402493402	CV2923606	single nucleotide variant	NM_003982.4(SLC7A7):c.499+2T>G	Lysinuric protein intolerance [RCV003507889]	likely pathogenic	14	22812898	22812898	Human	1	name
402493198	CV2929290	deletion	NM_003982.4(SLC7A7):c.625+9del	Lysinuric protein intolerance [RCV003507864]	likely benign	14	22779917	22779917	Human	1	name
405117755	CV3000509	single nucleotide variant	NM_003982.4(SLC7A7):c.625+7A>G	Lysinuric protein intolerance [RCV003616640]	likely benign	14	22779919	22779919	Human	1	name
405117857	CV3000547	single nucleotide variant	NM_003982.4(SLC7A7):c.998+7G>C	Lysinuric protein intolerance [RCV003616652]	likely benign	14	22775826	22775826	Human	1	name
405111266	CV3063127	single nucleotide variant	NM_003982.4(SLC7A7):c.625+9T>C	Lysinuric protein intolerance [RCV003615618]	likely benign	14	22779917	22779917	Human	1	name
405232342	CV3157563	single nucleotide variant	NM_003982.4(SLC7A7):c.626-8G>T	Lysinuric protein intolerance [RCV003865513]	likely benign	14	22778945	22778945	Human	1	name
405273485	CV3214142	single nucleotide variant	NM_003982.4(SLC7A7):c.625+3A>G	SLC7A7-related disorder [RCV003914759]	likely benign	14	22779923	22779923	Human		name , trait , alternate_id
596944470	CV3543157	single nucleotide variant	NM_003982.4(SLC7A7):c.499+1G>C	Lysinuric protein intolerance [RCV004799029]	likely pathogenic	14	22812899	22812899	Human	1	name
597688584	CV3710732	single nucleotide variant	NM_003982.4(SLC7A7):c.895-1G>A	Lysinuric protein intolerance [RCV005007147]	likely pathogenic	14	22775937	22775937	Human	1	name
597915438	CV3848799	single nucleotide variant	NM_003982.4(SLC7A7):c.998+4A>G	Lysinuric protein intolerance [RCV005189736]	uncertain significance	14	22775829	22775829	Human	1	name
13807589	CV566304	single nucleotide variant	NM_003982.4(SLC7A7):c.894+6G>A	Lysinuric protein intolerance [RCV000686855]\|SLC7A7-related disorder [RCV003945710]	likely benign\|uncertain significance	14	22776189	22776189	Human	1	name , trait , alternate_id
8617101	CV71008	single nucleotide variant	NM_003982.4(SLC7A7):c.499+1G>A	Lysinuric protein intolerance [RCV000049782]	pathogenic\|likely pathogenic	14	22812899	22812899	Human	1	name
8617106	CV71013	single nucleotide variant	NM_003982.4(SLC7A7):c.625+1G>A	Lysinuric protein intolerance [RCV000049787]\|SLC7A7-related disorder [RCV003415815]\|not provided [RCV001547252]	pathogenic\|likely pathogenic	14	22779925	22779925	Human	1	name , trait , alternate_id
8617107	CV71014	single nucleotide variant	NM_003982.4(SLC7A7):c.625+1G>C	Lysinuric protein intolerance [RCV000049788]	pathogenic\|likely pathogenic	14	22779925	22779925	Human	1	name
8617112	CV71019	single nucleotide variant	NM_003982.4(SLC7A7):c.894+1G>T	Lysinuric protein intolerance [RCV000049793]	pathogenic\|likely pathogenic	14	22776194	22776194	Human	1	name
8617113	CV71020	single nucleotide variant	NM_003982.4(SLC7A7):c.895-2A>G	Lysinuric protein intolerance [RCV000049794]	pathogenic\|likely pathogenic	14	22775938	22775938	Human	1	name
8617114	CV71021	single nucleotide variant	NM_003982.4(SLC7A7):c.998+1G>T	Lysinuric protein intolerance [RCV000049795]	pathogenic\|likely pathogenic	14	22775832	22775832	Human	1	name
15124057	CV775907	single nucleotide variant	NM_003982.4(SLC7A7):c.998+9G>C	Lysinuric protein intolerance [RCV001272425]	likely benign\|uncertain significance	14	22775824	22775824	Human	1	name
15109586	CV776060	single nucleotide variant	NM_003982.4(SLC7A7):c.771-5T>C	Lysinuric protein intolerance [RCV000938374]	likely benign	14	22776323	22776323	Human	1	name
25316880	CV804907	single nucleotide variant	NM_003982.4(SLC7A7):c.895-2A>T	Lysinuric protein intolerance [RCV001007644]	pathogenic	14	22775938	22775938	Human	1	name
40906329	CV979473	single nucleotide variant	NM_003982.4(SLC7A7):c.499+9G>C	Lysinuric protein intolerance [RCV001279690]	likely benign\|uncertain significance	14	22812891	22812891	Human	1	name
126917866	CV1048463	single nucleotide variant	NM_003982.4(SLC7A7):c.1245+6G>A	Lysinuric protein intolerance [RCV001372324]	uncertain significance	14	22774348	22774348	Human	1	name
127246988	CV1080343	single nucleotide variant	NM_003982.4(SLC7A7):c.1246-6C>T	Lysinuric protein intolerance [RCV001399064]	likely benign	14	22774122	22774122	Human	1	name
127233810	CV1080346	single nucleotide variant	NM_003982.4(SLC7A7):c.1096-7C>T	Lysinuric protein intolerance [RCV001414058]	likely benign	14	22774510	22774510	Human	1	name
127236791	CV1102159	single nucleotide variant	NM_003982.4(SLC7A7):c.1429+9T>C	Lysinuric protein intolerance [RCV001433415]	likely benign	14	22773924	22773924	Human	1	name
127278271	CV1102160	single nucleotide variant	NM_003982.4(SLC7A7):c.1246-7C>T	Lysinuric protein intolerance [RCV001444966]	likely benign	14	22774123	22774123	Human	1	name
127249142	CV1102163	single nucleotide variant	NM_003982.4(SLC7A7):c.894+10T>A	Lysinuric protein intolerance [RCV001436032]	likely benign	14	22776185	22776185	Human	1	name
127298461	CV1123604	single nucleotide variant	NM_003982.4(SLC7A7):c.1429+8G>C	Lysinuric protein intolerance [RCV001460565]	likely benign	14	22773925	22773925	Human	1	name
127322677	CV1144453	single nucleotide variant	NM_003982.4(SLC7A7):c.1096-8G>C	Lysinuric protein intolerance [RCV001485001]	likely benign	14	22774511	22774511	Human	1	name
127332876	CV1144454	single nucleotide variant	NM_003982.4(SLC7A7):c.1096-8G>A	Lysinuric protein intolerance [RCV001489823]	likely benign	14	22774511	22774511	Human	1	name
150330340	CV1167605	single nucleotide variant	NM_003982.4(SLC7A7):c.500-32T>C	Lysinuric protein intolerance [RCV001538039]\|not provided [RCV001534008]\|not specified [RCV003487433]	benign	14	22780083	22780083	Human	1	name
150420290	CV1181151	single nucleotide variant	NM_003982.4(SLC7A7):c.999-75G>A	not provided [RCV001551473]	likely benign	14	22775615	22775615	Human		name
150493840	CV1224484	single nucleotide variant	NM_003982.4(SLC7A7):c.500-67T>C	not provided [RCV001619260]	benign	14	22780118	22780118	Human		name
150489732	CV1279212	single nucleotide variant	NM_003982.4(SLC7A7):c.-42-50T>A	not provided [RCV001716350]	benign	14	22813490	22813490	Human		name
150509924	CV1286292	single nucleotide variant	NM_003982.4(SLC7A7):c.-42-24T>C	not provided [RCV001720820]	benign	14	22813464	22813464	Human		name
152084598	CV1525511	single nucleotide variant	NM_003982.4(SLC7A7):c.771-12A>G	Lysinuric protein intolerance [RCV002131264]	likely benign	14	22776330	22776330	Human	1	name
152135204	CV1528259	single nucleotide variant	NM_003982.4(SLC7A7):c.625+18T>C	Lysinuric protein intolerance [RCV002100022]\|not specified [RCV003491034]	likely benign	14	22779908	22779908	Human	1	name
152076270	CV1542828	single nucleotide variant	NM_003982.4(SLC7A7):c.1430-8C>T	Lysinuric protein intolerance [RCV002130259]\|SLC7A7-related disorder [RCV003895892]	likely benign	14	22773724	22773724	Human	1	name , trait , alternate_id
152104267	CV1544660	single nucleotide variant	NM_003982.4(SLC7A7):c.895-20C>T	Lysinuric protein intolerance [RCV002115741]	benign	14	22775956	22775956	Human	1	name
152109441	CV1563876	duplication	NM_003982.4(SLC7A7):c.894+13dup	Lysinuric protein intolerance [RCV002174145]	likely benign	14	22776181	22776182	Human	1	name
152036875	CV1605666	single nucleotide variant	NM_003982.4(SLC7A7):c.500-20C>G	Lysinuric protein intolerance [RCV002107135]	benign\|likely benign	14	22780071	22780071	Human	1	name
152051517	CV1607091	single nucleotide variant	NM_003982.4(SLC7A7):c.626-14T>G	Lysinuric protein intolerance [RCV002109029]	likely benign	14	22778951	22778951	Human	1	name
152074666	CV1652769	single nucleotide variant	NM_003982.4(SLC7A7):c.999-16A>G	Lysinuric protein intolerance [RCV002148538]\|not specified [RCV005419395]	likely benign	14	22775556	22775556	Human	1	name
152068467	CV1654113	single nucleotide variant	NM_003982.4(SLC7A7):c.1246-8G>A	Lysinuric protein intolerance [RCV002111122]	likely benign	14	22774124	22774124	Human	1	name
156275632	CV1880601	single nucleotide variant	NM_003982.4(SLC7A7):c.626-13T>A	Lysinuric protein intolerance [RCV003060880]	likely benign	14	22778950	22778950	Human	1	name
156114612	CV1880921	single nucleotide variant	NM_003982.4(SLC7A7):c.998+13A>C	Lysinuric protein intolerance [RCV003081187]	likely benign	14	22775820	22775820	Human	1	name
156411413	CV1893176	single nucleotide variant	NM_003982.4(SLC7A7):c.999-19C>G	Lysinuric protein intolerance [RCV003072468]	likely benign	14	22775559	22775559	Human	1	name
156405491	CV1893868	single nucleotide variant	NM_003982.4(SLC7A7):c.500-17T>C	Lysinuric protein intolerance [RCV003070038]	likely benign	14	22780068	22780068	Human	1	name
156363162	CV1895454	single nucleotide variant	NM_003982.4(SLC7A7):c.894+15C>T	Lysinuric protein intolerance [RCV003091851]	likely benign	14	22776180	22776180	Human	1	name
156101140	CV1907107	single nucleotide variant	NM_003982.4(SLC7A7):c.626-18A>G	Lysinuric protein intolerance [RCV003080606]	likely benign	14	22778955	22778955	Human	1	name
155926837	CV1916020	single nucleotide variant	NM_003982.4(SLC7A7):c.998+19G>C	Lysinuric protein intolerance [RCV002614807]	likely benign	14	22775814	22775814	Human	1	name
156304501	CV1931216	single nucleotide variant	NM_003982.4(SLC7A7):c.1095+7G>C	Lysinuric protein intolerance [RCV002647816]	likely benign	14	22775437	22775437	Human	1	name
156446037	CV1951064	single nucleotide variant	NM_003982.4(SLC7A7):c.771-15T>G	Lysinuric protein intolerance [RCV003117000]	likely benign	14	22776333	22776333	Human	1	name
156139733	CV1973546	single nucleotide variant	NM_003982.4(SLC7A7):c.625+12T>C	Lysinuric protein intolerance [RCV002593788]	likely benign	14	22779914	22779914	Human	1	name
156162321	CV1989735	single nucleotide variant	NM_003982.4(SLC7A7):c.999-10C>T	Lysinuric protein intolerance [RCV002642454]	likely benign	14	22775550	22775550	Human	1	name
156135750	CV2044345	single nucleotide variant	NM_003982.4(SLC7A7):c.998+11C>T	Lysinuric protein intolerance [RCV002786341]	likely benign	14	22775822	22775822	Human	1	name
156240353	CV2053067	single nucleotide variant	NM_003982.4(SLC7A7):c.770+10G>A	Lysinuric protein intolerance [RCV002791330]	likely benign	14	22778783	22778783	Human	1	name
155996357	CV2056490	single nucleotide variant	NM_003982.4(SLC7A7):c.1245+2T>C	Lysinuric protein intolerance [RCV002819440]	likely pathogenic	14	22774352	22774352	Human	1	name
155934506	CV2061043	single nucleotide variant	NM_003982.4(SLC7A7):c.1429+2T>C	Lysinuric protein intolerance [RCV002815271]	pathogenic	14	22773931	22773931	Human	1	name
156090258	CV2080235	deletion	NM_003982.4(SLC7A7):c.771-18del	Lysinuric protein intolerance [RCV002847688]	benign	14	22776336	22776336	Human	1	name
156304872	CV2105189	single nucleotide variant	NM_003982.4(SLC7A7):c.500-20C>T	Lysinuric protein intolerance [RCV002922767]	likely benign	14	22780071	22780071	Human	1	name
156340255	CV2174800	single nucleotide variant	NM_003982.4(SLC7A7):c.1245+9A>G	Lysinuric protein intolerance [RCV003047700]	likely benign	14	22774345	22774345	Human	1	name
402484398	CV2906980	single nucleotide variant	NM_003982.4(SLC7A7):c.1095+9A>C	Lysinuric protein intolerance [RCV003506831]	likely benign	14	22775435	22775435	Human	1	name
402485768	CV2908130	single nucleotide variant	NM_003982.4(SLC7A7):c.895-15A>G	Lysinuric protein intolerance [RCV003506963]	likely benign	14	22775951	22775951	Human	1	name
402493156	CV2932528	single nucleotide variant	NM_003982.4(SLC7A7):c.771-10T>C	Lysinuric protein intolerance [RCV003507860]	likely benign	14	22776328	22776328	Human	1	name
405113381	CV2938281	single nucleotide variant	NM_003982.4(SLC7A7):c.626-18A>C	Lysinuric protein intolerance [RCV003616027]	likely benign	14	22778955	22778955	Human	1	name
405114215	CV2951793	single nucleotide variant	NM_003982.4(SLC7A7):c.998+13A>T	Lysinuric protein intolerance [RCV003616147]	likely benign	14	22775820	22775820	Human	1	name
405114407	CV2952730	single nucleotide variant	NM_003982.4(SLC7A7):c.770+16C>A	Lysinuric protein intolerance [RCV003616179]	likely benign	14	22778777	22778777	Human	1	name
405118540	CV3012879	single nucleotide variant	NM_003982.4(SLC7A7):c.998+10G>T	Lysinuric protein intolerance [RCV003616738]	likely benign	14	22775823	22775823	Human	1	name
405118488	CV3015414	single nucleotide variant	NM_003982.4(SLC7A7):c.894+19C>T	Lysinuric protein intolerance [RCV003616731]	likely benign	14	22776176	22776176	Human	1	name
405121736	CV3043622	single nucleotide variant	NM_003982.4(SLC7A7):c.625+17G>A	Lysinuric protein intolerance [RCV003617135]	likely benign	14	22779909	22779909	Human	1	name
405121602	CV3053437	single nucleotide variant	NM_003982.4(SLC7A7):c.895-14T>C	Lysinuric protein intolerance [RCV003617120]	likely benign	14	22775950	22775950	Human	1	name
405121791	CV3053947	single nucleotide variant	NM_003982.4(SLC7A7):c.1429+1G>C	Lysinuric protein intolerance [RCV003617141]	pathogenic	14	22773932	22773932	Human	1	name
405111649	CV3070836	single nucleotide variant	NM_003982.4(SLC7A7):c.500-18G>C	Lysinuric protein intolerance [RCV003615677]	likely benign	14	22780069	22780069	Human	1	name
405111683	CV3070979	single nucleotide variant	NM_003982.4(SLC7A7):c.999-19C>T	Lysinuric protein intolerance [RCV003615682]	likely benign	14	22775559	22775559	Human	1	name
405112349	CV3072129	single nucleotide variant	NM_003982.4(SLC7A7):c.771-11T>C	Lysinuric protein intolerance [RCV003615768]	likely benign	14	22776329	22776329	Human	1	name
405111562	CV3073403	single nucleotide variant	NM_003982.4(SLC7A7):c.770+16C>T	Lysinuric protein intolerance [RCV003615663]	likely benign	14	22778777	22778777	Human	1	name
405112074	CV3076798	single nucleotide variant	NM_003982.4(SLC7A7):c.500-14T>C	Lysinuric protein intolerance [RCV003615723]	likely benign	14	22780065	22780065	Human	1	name
404978255	CV3127365	single nucleotide variant	NM_003982.4(SLC7A7):c.998+15T>A	Lysinuric protein intolerance [RCV003825589]	likely benign	14	22775818	22775818	Human	1	name
405106736	CV3136170	single nucleotide variant	NM_003982.4(SLC7A7):c.998+16T>C	Lysinuric protein intolerance [RCV003835516]	likely benign	14	22775817	22775817	Human	1	name
405199530	CV3147180	single nucleotide variant	NM_003982.4(SLC7A7):c.998+10G>A	Lysinuric protein intolerance [RCV003844340]	likely benign	14	22775823	22775823	Human	1	name
405229124	CV3153450	duplication	NM_003982.4(SLC7A7):c.770+19dup	Lysinuric protein intolerance [RCV003848515]	likely benign	14	22778773	22778774	Human	1	name
405203883	CV3165269	single nucleotide variant	NM_003982.4(SLC7A7):c.1430-8C>A	Lysinuric protein intolerance [RCV003861130]	likely benign	14	22773724	22773724	Human	1	name
405233059	CV3167968	single nucleotide variant	NM_003982.4(SLC7A7):c.771-11T>A	Lysinuric protein intolerance [RCV003865636]	likely benign	14	22776329	22776329	Human	1	name
405251242	CV3181236	single nucleotide variant	NM_003982.4(SLC7A7):c.999-14C>G	Lysinuric protein intolerance [RCV003870238]	likely benign	14	22775554	22775554	Human	1	name
11622726	CV335526	single nucleotide variant	NM_003982.4(SLC7A7):c.-42-11C>T	Lysinuric protein intolerance [RCV000363936]	likely benign\|uncertain significance	14	22813451	22813451	Human	1	name
11613494	CV337397	single nucleotide variant	NM_003982.4(SLC7A7):c.1095+6T>C	Autoinflammatory syndrome [RCV002262976]\|Lysinuric protein intolerance [RCV000268955]\|not specified [RCV005238883]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	22775438	22775438	Human	2	name
405869782	CV3399504	single nucleotide variant	NM_003982.4(SLC7A7):c.1095+2T>G	Lysinuric protein intolerance [RCV004573649]	likely pathogenic	14	22775442	22775442	Human	1	name
597847197	CV3736595	single nucleotide variant	NM_003982.4(SLC7A7):c.771-19T>C	Lysinuric protein intolerance [RCV005065754]	likely benign	14	22776337	22776337	Human	1	name
597860443	CV3790103	single nucleotide variant	NM_003982.4(SLC7A7):c.1095+2T>C	Lysinuric protein intolerance [RCV005134804]	likely pathogenic	14	22775442	22775442	Human	1	name
13214983	CV430998	deletion	NM_003982.4(SLC7A7):c.1095+2del	Lysinuric protein intolerance [RCV000501922]	pathogenic\|likely pathogenic	14	22775442	22775442	Human	1	name
13618413	CV527979	single nucleotide variant	NM_003982.4(SLC7A7):c.625+10A>G	Lysinuric protein intolerance [RCV000634959]	likely benign	14	22779916	22779916	Human	1	name
15174291	CV776054	single nucleotide variant	NM_003982.4(SLC7A7):c.1429+7C>T	Lysinuric protein intolerance [RCV000928404]	likely benign	14	22773926	22773926	Human	1	name
15148922	CV779847	single nucleotide variant	NM_003982.4(SLC7A7):c.1429+8G>A	Lysinuric protein intolerance [RCV000967648]	likely benign	14	22773925	22773925	Human	1	name
28873364	CV872362	single nucleotide variant	NM_003982.4(SLC7A7):c.-43+11G>A	Lysinuric protein intolerance [RCV001114968]	uncertain significance	14	22815309	22815309	Human	1	name
38470441	CV960083	single nucleotide variant	NM_003982.4(SLC7A7):c.1095+5G>C	Lysinuric protein intolerance [RCV001230978]	uncertain significance	14	22775439	22775439	Human	1	name
40906325	CV979469	single nucleotide variant	NM_003982.4(SLC7A7):c.1430-4G>A	Lysinuric protein intolerance [RCV001279686]	uncertain significance	14	22773720	22773720	Human	1	name
127238812	CV1080347	single nucleotide variant	NM_003982.4(SLC7A7):c.1096-19C>G	Lysinuric protein intolerance [RCV001415170]	likely benign	14	22774522	22774522	Human	1	name
150339132	CV1167604	single nucleotide variant	NM_003982.4(SLC7A7):c.1095+38C>T	not provided [RCV001534067]	likely benign	14	22775406	22775406	Human		name
150330454	CV1170134	single nucleotide variant	NM_003982.4(SLC7A7):c.1430-55T>C	Lysinuric protein intolerance [RCV001538037]\|not provided [RCV001673153]\|not specified [RCV003487440]	benign	14	22773771	22773771	Human	1	name
150407997	CV1177759	single nucleotide variant	NM_003982.4(SLC7A7):c.771-147G>T	not provided [RCV001545750]	likely benign	14	22776465	22776465	Human		name
150421642	CV1181152	single nucleotide variant	NM_003982.4(SLC7A7):c.771-109C>T	not provided [RCV001552110]	likely benign	14	22776427	22776427	Human		name
150424456	CV1184868	single nucleotide variant	NM_003982.4(SLC7A7):c.1245+53C>T	not provided [RCV001556683]	likely benign	14	22774301	22774301	Human		name
150412305	CV1198523	single nucleotide variant	NM_003982.4(SLC7A7):c.998+104C>T	not provided [RCV001574320]	likely benign	14	22775729	22775729	Human		name
150432457	CV1200652	single nucleotide variant	NM_003982.4(SLC7A7):c.1429+52C>A	not provided [RCV001581375]	likely benign	14	22773881	22773881	Human		name
150442964	CV1204792	single nucleotide variant	NM_003982.4(SLC7A7):c.1246-73A>C	not provided [RCV001583899]	likely benign	14	22774189	22774189	Human		name
150489496	CV1208450	single nucleotide variant	NM_003982.4(SLC7A7):c.771-138A>C	not provided [RCV001592311]	likely benign	14	22776456	22776456	Human		name
150492726	CV1225530	deletion	NM_003982.4(SLC7A7):c.500-149del	not provided [RCV001619046]	benign	14	22780200	22780200	Human		name
150491227	CV1251157	single nucleotide variant	NM_003982.4(SLC7A7):c.771-260C>T	not provided [RCV001674825]	benign	14	22776578	22776578	Human		name
150461224	CV1253214	deletion	NM_003982.4(SLC7A7):c.499+260del	not provided [RCV001669543]	benign	14	22812640	22812640	Human		name
150449408	CV1253972	single nucleotide variant	NM_003982.4(SLC7A7):c.895-114C>T	not provided [RCV001667609]	benign	14	22776050	22776050	Human		name
150469661	CV1268135	single nucleotide variant	NM_003982.4(SLC7A7):c.895-107T>C	not provided [RCV001694998]	benign	14	22776043	22776043	Human		name
150453361	CV1276836	single nucleotide variant	NM_003982.4(SLC7A7):c.626-158C>A	not provided [RCV001708626]	benign	14	22779095	22779095	Human		name
150478287	CV1281908	single nucleotide variant	NM_003982.4(SLC7A7):c.894+103A>G	not provided [RCV001714270]\|not specified [RCV003487754]	benign	14	22776092	22776092	Human		name
150478524	CV1281979	single nucleotide variant	NM_003982.4(SLC7A7):c.998+113T>A	not provided [RCV001714309]\|not specified [RCV003487755]	benign	14	22775720	22775720	Human		name
150500953	CV1283983	single nucleotide variant	NM_003982.4(SLC7A7):c.-42-101T>G	not provided [RCV001718500]	benign	14	22813541	22813541	Human		name
151738502	CV1397696	single nucleotide variant	NM_003982.4(SLC7A7):c.1430-20A>G	Lysinuric protein intolerance [RCV001985003]	uncertain significance	14	22773736	22773736	Human	1	name
152057862	CV1523256	duplication	NM_003982.4(SLC7A7):c.1430-14dup	Lysinuric protein intolerance [RCV002167662]	likely benign	14	22773729	22773730	Human	1	name
152080147	CV1550083	single nucleotide variant	NM_003982.4(SLC7A7):c.1096-18T>C	Lysinuric protein intolerance [RCV002192920]	likely benign	14	22774521	22774521	Human	1	name
152147556	CV1576751	single nucleotide variant	NM_003982.4(SLC7A7):c.1429+18A>C	Lysinuric protein intolerance [RCV002178951]	likely benign	14	22773915	22773915	Human	1	name
152025864	CV1586586	single nucleotide variant	NM_003982.4(SLC7A7):c.1095+14A>G	Lysinuric protein intolerance [RCV002184960]	likely benign	14	22775430	22775430	Human	1	name
152164825	CV1588736	single nucleotide variant	NM_003982.4(SLC7A7):c.1246-13C>T	Lysinuric protein intolerance [RCV002181611]	likely benign	14	22774129	22774129	Human	1	name
152037078	CV1646247	single nucleotide variant	NM_003982.4(SLC7A7):c.1430-18T>C	Lysinuric protein intolerance [RCV002205770]	likely benign	14	22773734	22773734	Human	1	name
155950214	CV1879119	single nucleotide variant	NM_003982.4(SLC7A7):c.1246-18T>C	Lysinuric protein intolerance [RCV003074104]	likely benign	14	22774134	22774134	Human	1	name
156219909	CV1879186	single nucleotide variant	NM_003982.4(SLC7A7):c.1246-16T>C	Lysinuric protein intolerance [RCV003058889]	likely benign	14	22774132	22774132	Human	1	name
156280200	CV2054923	single nucleotide variant	NM_003982.4(SLC7A7):c.1429+10G>A	Lysinuric protein intolerance [RCV002832814]	likely benign	14	22773923	22773923	Human	1	name
156010275	CV2100015	deletion	NM_003982.4(SLC7A7):c.1095+20del	Lysinuric protein intolerance [RCV002909068]	likely benign	14	22775424	22775424	Human	1	name
402483590	CV2902620	single nucleotide variant	NM_003982.4(SLC7A7):c.1245+17C>A	Lysinuric protein intolerance [RCV003506753]	likely benign	14	22774337	22774337	Human	1	name
402487829	CV2917902	single nucleotide variant	NM_003982.4(SLC7A7):c.1095+13A>T	Lysinuric protein intolerance [RCV003507187]	likely benign	14	22775431	22775431	Human	1	name
405116695	CV2994383	single nucleotide variant	NM_003982.4(SLC7A7):c.1429+11C>T	Lysinuric protein intolerance [RCV003616506]	likely benign	14	22773922	22773922	Human	1	name
405120940	CV3032823	single nucleotide variant	NM_003982.4(SLC7A7):c.1095+15G>C	Lysinuric protein intolerance [RCV003617041]	likely benign	14	22775429	22775429	Human	1	name
405122126	CV3047941	single nucleotide variant	NM_003982.4(SLC7A7):c.1429+19A>G	Lysinuric protein intolerance [RCV003617186]	likely benign	14	22773914	22773914	Human	1	name
405122411	CV3055888	single nucleotide variant	NM_003982.4(SLC7A7):c.1096-14G>A	Lysinuric protein intolerance [RCV003617221]	likely benign	14	22774517	22774517	Human	1	name
405122981	CV3067842	single nucleotide variant	NM_003982.4(SLC7A7):c.1429+12A>C	Lysinuric protein intolerance [RCV003617297]	likely benign	14	22773921	22773921	Human	1	name
405111934	CV3073973	single nucleotide variant	NM_003982.4(SLC7A7):c.1096-17T>C	Lysinuric protein intolerance [RCV003615699]	likely benign	14	22774520	22774520	Human	1	name
405094473	CV3134721	single nucleotide variant	NM_003982.4(SLC7A7):c.1429+15C>A	Lysinuric protein intolerance [RCV003835067]	likely benign	14	22773918	22773918	Human	1	name
402493497	CV3182883	single nucleotide variant	NM_003982.4(SLC7A7):c.1095+20A>T	Lysinuric protein intolerance [RCV003877191]	likely benign	14	22775424	22775424	Human	1	name
11618742	CV328927	single nucleotide variant	NM_001126106.4(SLC7A7):c.-264C>T	Lysinuric protein intolerance [RCV000317665]	benign\|uncertain significance	14	22819727	22819727	Human	1	name
11618484	CV335537	deletion	NM_001126106.4(SLC7A7):c.-234del	Lysinuric protein intolerance [RCV000314276]	uncertain significance	14	22819697	22819697	Human	1	name
11623307	CV335556	single nucleotide variant	NM_001126106.4(SLC7A7):c.-263G>C	Lysinuric protein intolerance [RCV000371386]\|not provided [RCV001711926]	benign\|likely benign	14	22819726	22819726	Human	2	name
11623307	CV335556	single nucleotide variant	NM_001126106.4(SLC7A7):c.-263G>C	Lysinuric protein intolerance [RCV000371386]\|not provided [RCV001711926]	benign\|likely benign	14	22819726	22819727	Human	2	name
11612517	CV335563	single nucleotide variant	NM_001126106.4(SLC7A7):c.-263G>A	Lysinuric protein intolerance [RCV000260359]	uncertain significance	14	22819726	22819726	Human	1	name
11623561	CV335564	single nucleotide variant	NM_001126106.4(SLC7A7):c.-281T>C	Lysinuric protein intolerance [RCV000374625]\|not provided [RCV001711927]	benign\|likely benign	14	22819744	22819744	Human	4	name
11623561	CV335564	single nucleotide variant	NM_001126106.4(SLC7A7):c.-281T>C	Lysinuric protein intolerance [RCV000374625]\|not provided [RCV001711927]	benign\|likely benign	14	22819744	22819745	Human	4	name
597675891	CV3710718	single nucleotide variant	NM_003982.4(SLC7A7):c.1430-10C>A	Lysinuric protein intolerance [RCV005005608]	uncertain significance	14	22773726	22773726	Human	1	name
12835532	CV373002	single nucleotide variant	NM_001126105.3(SLC7A7):c.-162C>G	not specified [RCV000421843]	likely benign	14	22815439	22815439	Human		name
597900414	CV3822638	single nucleotide variant	NM_003982.4(SLC7A7):c.1245+20C>T	Lysinuric protein intolerance [RCV005175169]	likely benign	14	22774334	22774334	Human	1	name
597902730	CV3846322	single nucleotide variant	NM_003982.4(SLC7A7):c.1245+13C>T	Lysinuric protein intolerance [RCV005177205]	likely benign	14	22774341	22774341	Human	1	name
13537644	CV504447	single nucleotide variant	NM_001126106.4(SLC7A7):c.-190A>G	not specified [RCV000610690]	likely benign	14	22819653	22819653	Human		name
14705630	CV666497	single nucleotide variant	NM_003982.4(SLC7A7):c.500-279T>C	not provided [RCV000826255]	benign	14	22780330	22780330	Human	6	name
14705630	CV666497	single nucleotide variant	NM_003982.4(SLC7A7):c.500-279T>C	not provided [RCV000826255]	benign	14	22780330	22780331	Human	6	name
14708411	CV667371	duplication	NM_003982.4(SLC7A7):c.770+211dup	not provided [RCV000826256]	benign	14	22778577	22778578	Human		name
14746263	CV667572	single nucleotide variant	NM_003982.4(SLC7A7):c.770+315A>G	not provided [RCV000844252]	benign	14	22778478	22778478	Human		name
15123041	CV788132	single nucleotide variant	NM_003982.4(SLC7A7):c.1245+10C>T	Lysinuric protein intolerance [RCV000979758]	benign\|likely benign	14	22774344	22774344	Human	1	name
28873148	CV872361	single nucleotide variant	NM_003982.4(SLC7A7):c.1246-12C>T	Lysinuric protein intolerance [RCV001114870]	conflicting interpretations of pathogenicity\|uncertain significance	14	22774128	22774128	Human	1	name
150330455	CV1170135	single nucleotide variant	NM_003982.4(SLC7A7):c.1095+111A>G	Lysinuric protein intolerance [RCV001538038]\|not provided [RCV001685460]	benign	14	22775333	22775333	Human	1	name
150424498	CV1184869	single nucleotide variant	NM_003982.4(SLC7A7):c.1095+275C>T	not provided [RCV001556738]	likely benign	14	22775169	22775169	Human		name
150548559	CV1316405	single nucleotide variant	NM_003982.4(SLC7A7):c.1095+138C>T	not provided [RCV001786207]	likely benign	14	22775306	22775306	Human		name
150467922	CV1240959	microsatellite	NM_003982.4(SLC7A7):c.499+109TA[7]	not provided [RCV001650417]	benign	14	22812774	22812777	Human		name
11655699	CV320312	duplication	NM_003982.4(SLC7A7):c.323_326dup	Lysinuric protein intolerance [RCV000327480]	uncertain significance	14	22773283	22773284	Human	1	name
11647263	CV320329	single nucleotide variant	NM_001126106.4(SLC7A7):c.-175+7G>C	Lysinuric protein intolerance [RCV000275577]	uncertain significance	14	22819631	22819631	Human	1	name
150333634	CV1172569	microsatellite	NM_003982.4(SLC7A7):c.499+109TA[11]	not provided [RCV001539595]	benign	14	22812773	22812774	Human		name
150406088	CV1194811	microsatellite	NM_003982.4(SLC7A7):c.499+109TA[20]	not provided [RCV001571920]	likely benign	14	22812773	22812774	Human		name
150414487	CV1198524	microsatellite	NM_003982.4(SLC7A7):c.499+109TA[21]	not provided [RCV001574980]	likely benign	14	22812773	22812774	Human		name
150478293	CV1281909	microsatellite	NM_003982.4(SLC7A7):c.499+109TA[10]	not provided [RCV001714271]	benign	14	22812773	22812774	Human		name
150548592	CV1316422	microsatellite	NM_003982.4(SLC7A7):c.499+109TA[22]	not provided [RCV001786224]	likely benign	14	22812773	22812774	Human		name
150475078	CV1217895	single nucleotide variant	NM_001126105.3(SLC7A7):c.-175+136T>C	not provided [RCV001615906]	benign	14	22815695	22815695	Human		name
150478305	CV1281911	single nucleotide variant	NM_001126106.4(SLC7A7):c.-174-488A>G	not provided [RCV001714273]	benign	14	22815939	22815939	Human		name
597688543	CV3710728	duplication	NM_003982.4(SLC7A7):c.1096-2_1097dup	Lysinuric protein intolerance [RCV005007143]	likely pathogenic	14	22774501	22774502	Human	1	name
597925603	CV3856008	deletion	NM_003982.4(SLC7A7):c.999-3_999-2del	Lysinuric protein intolerance [RCV005200253]	uncertain significance	14	22775542	22775543	Human	1	name
12899278	CV409081	microsatellite	NM_001126105.3(SLC7A7):c.-175+3GA[3]	not specified [RCV000479839]	likely benign	14	22815821	22815822	Human		name
151832954	CV1356238	deletion	NM_003982.4(SLC7A7):c.1246-26_1248del	Lysinuric protein intolerance [RCV002030983]	likely pathogenic	14	22774114	22774142	Human	1	name
402484120	CV2903208	single nucleotide variant	NM_003982.4(SLC7A7):c.18G>A (p.Glu6=)	Lysinuric protein intolerance [RCV003506804]	likely benign	14	22813381	22813381	Human	1	name
405115041	CV2972629	single nucleotide variant	NM_003982.4(SLC7A7):c.27G>A (p.Val9=)	Lysinuric protein intolerance [RCV003616290]	likely benign	14	22813372	22813372	Human	1	name
127230135	CV1080365	single nucleotide variant	NM_003982.4(SLC7A7):c.84G>A (p.Pro28=)	Lysinuric protein intolerance [RCV001394586]	likely benign	14	22813315	22813315	Human	1	name
127267338	CV1102172	single nucleotide variant	NM_003982.4(SLC7A7):c.99G>A (p.Leu33=)	Lysinuric protein intolerance [RCV001429649]	likely benign	14	22813300	22813300	Human	1	name
127242284	CV1102173	single nucleotide variant	NM_003982.4(SLC7A7):c.66T>C (p.Asp22=)	Lysinuric protein intolerance [RCV001423704]	likely benign	14	22813333	22813333	Human	1	name
127239383	CV1102174	single nucleotide variant	NM_003982.4(SLC7A7):c.39T>C (p.Pro13=)	Lysinuric protein intolerance [RCV001423114]	likely benign	14	22813360	22813360	Human	1	name
127289981	CV1144465	single nucleotide variant	NM_003982.4(SLC7A7):c.54C>T (p.Ser18=)	Lysinuric protein intolerance [RCV001495844]	likely benign	14	22813345	22813345	Human	1	name
156411204	CV1892999	single nucleotide variant	NM_003982.4(SLC7A7):c.1A>G (p.Met1Val)	Lysinuric protein intolerance [RCV003072378]	likely pathogenic	14	22813398	22813398	Human	1	name
156106454	CV1903586	microsatellite	NM_003982.4(SLC7A7):c.1430-8_1430-7del	Lysinuric protein intolerance [RCV003080800]	uncertain significance	14	22773723	22773724	Human		name
156444027	CV1941306	single nucleotide variant	NM_003982.4(SLC7A7):c.63T>A (p.Gly21=)	Lysinuric protein intolerance [RCV003114943]	likely benign	14	22813336	22813336	Human	1	name
156056597	CV1974599	single nucleotide variant	NM_003982.4(SLC7A7):c.45G>T (p.Val15=)	Lysinuric protein intolerance [RCV002590834]	likely benign	14	22813354	22813354	Human	1	name
10056303	CV200281	single nucleotide variant	NM_003982.4(SLC7A7):c.96G>A (p.Lys32=)	Autoinflammatory syndrome [RCV002262776]\|Lysinuric protein intolerance [RCV001114967]\|not provided [RCV004706620]\|not specified [RCV000186168]	benign	14	22813303	22813303	Human	2	name
156246828	CV2053363	single nucleotide variant	NM_003982.4(SLC7A7):c.3G>A (p.Met1Ile)	Lysinuric protein intolerance [RCV002791552]	pathogenic	14	22813396	22813396	Human	1	name
8559179	CV21247	single nucleotide variant	NM_003982.4(SLC7A7):c.1A>C (p.Met1Leu)	Lysinuric protein intolerance [RCV000006586]	pathogenic	14	22813398	22813398	Human	1	name
402485786	CV2908236	single nucleotide variant	NM_003982.4(SLC7A7):c.81G>A (p.Gly27=)	Lysinuric protein intolerance [RCV003506965]	likely benign	14	22813318	22813318	Human	1	name
402486860	CV2914050	single nucleotide variant	NM_003982.4(SLC7A7):c.42G>A (p.Glu14=)	Lysinuric protein intolerance [RCV003507080]	likely benign	14	22813357	22813357	Human	1	name
405120923	CV3032694	microsatellite	NM_003982.4(SLC7A7):c.895-20_895-19del	Lysinuric protein intolerance [RCV003617039]	likely benign	14	22775955	22775956	Human		name
405110783	CV3064617	single nucleotide variant	NM_003982.4(SLC7A7):c.2T>C (p.Met1Thr)	Lysinuric protein intolerance [RCV003615541]	likely pathogenic	14	22813397	22813397	Human	1	name
405230919	CV3153958	single nucleotide variant	NM_003982.4(SLC7A7):c.30C>T (p.Ala10=)	Lysinuric protein intolerance [RCV003848826]	likely benign	14	22813369	22813369	Human	1	name
404989490	CV3179977	deletion	NM_003982.4(SLC7A7):c.770+19_770+26del	Lysinuric protein intolerance [RCV003881455]	likely benign	14	22778767	22778774	Human	1	name
15112274	CV784679	single nucleotide variant	NM_003982.4(SLC7A7):c.58T>C (p.Leu20=)	Lysinuric protein intolerance [RCV001492735]	likely benign	14	22813341	22813341	Human	1	name
15130355	CV787866	duplication	NM_003982.4(SLC7A7):c.1096-6_1096-5dup	Lysinuric protein intolerance [RCV001414963]	likely benign	14	22774507	22774508	Human	1	name
126774056	CV1031495	single nucleotide variant	NM_003982.4(SLC7A7):c.25G>A (p.Val9Met)	Lysinuric protein intolerance [RCV001346784]	uncertain significance	14	22813374	22813374	Human	1	name
127283672	CV1080363	single nucleotide variant	NM_003982.4(SLC7A7):c.291T>C (p.Ile97=)	Lysinuric protein intolerance [RCV001411954]	likely benign	14	22813108	22813108	Human	1	name
127277290	CV1080364	single nucleotide variant	NM_003982.4(SLC7A7):c.267T>C (p.Cys89=)	Lysinuric protein intolerance [RCV001407671]	likely benign	14	22813132	22813132	Human	1	name
127232831	CV1102171	single nucleotide variant	NM_003982.4(SLC7A7):c.129G>A (p.Val43=)	Lysinuric protein intolerance [RCV001421461]	likely benign	14	22813270	22813270	Human	1	name
8692935	CV142901	single nucleotide variant	NM_003982.4(SLC7A7):c.159G>A (p.Ser53=)	Lysinuric protein intolerance [RCV000396503]\|not provided [RCV001824630]\|not specified [RCV000128148]	benign\|not provided	14	22813240	22813240	Human	1	name
151844755	CV1501508	single nucleotide variant	NM_003982.4(SLC7A7):c.16G>A (p.Glu6Lys)	Lysinuric protein intolerance [RCV002015763]	uncertain significance	14	22813383	22813383	Human	1	name
152064528	CV1575393	single nucleotide variant	NM_003982.4(SLC7A7):c.297A>G (p.Lys99=)	Lysinuric protein intolerance [RCV002110584]	likely benign	14	22813102	22813102	Human	1	name
152042337	CV1603447	single nucleotide variant	NM_003982.4(SLC7A7):c.114A>G (p.Ser38=)	Lysinuric protein intolerance [RCV002071183]	likely benign	14	22813285	22813285	Human	1	name
152121268	CV1613168	single nucleotide variant	NM_003982.4(SLC7A7):c.217C>T (p.Leu73=)	Lysinuric protein intolerance [RCV002154288]	likely benign	14	22813182	22813182	Human	1	name
152091513	CV1616269	single nucleotide variant	NM_003982.4(SLC7A7):c.117G>A (p.Leu39=)	Lysinuric protein intolerance [RCV002114140]	likely benign	14	22813282	22813282	Human	1	name
152106985	CV1639104	single nucleotide variant	NM_003982.4(SLC7A7):c.165C>T (p.Ile55=)	Lysinuric protein intolerance [RCV002152535]	likely benign	14	22813234	22813234	Human	1	name
152172746	CV1641720	single nucleotide variant	NM_003982.4(SLC7A7):c.105G>A (p.Lys35=)	Lysinuric protein intolerance [RCV002183945]	likely benign	14	22813294	22813294	Human	1	name
155931562	CV1909169	single nucleotide variant	NM_003982.4(SLC7A7):c.213C>G (p.Leu71=)	Lysinuric protein intolerance [RCV002615020]	likely benign	14	22813186	22813186	Human	1	name
156110345	CV2085907	single nucleotide variant	NM_003982.4(SLC7A7):c.249C>G (p.Ser83=)	Lysinuric protein intolerance [RCV002848424]	likely benign	14	22813150	22813150	Human	1	name
156230089	CV2093765	single nucleotide variant	NM_003982.4(SLC7A7):c.192A>C (p.Ile64=)	Lysinuric protein intolerance [RCV002894518]	likely benign	14	22813207	22813207	Human	1	name
401949180	CV2836557	deletion	NM_003982.4(SLC7A7):c.70del (p.Ala24fs)	Lysinuric protein intolerance [RCV003472955]	pathogenic\|likely pathogenic	14	22813329	22813329	Human	1	name
402495149	CV2877496	single nucleotide variant	NM_003982.4(SLC7A7):c.21T>A (p.Tyr7Ter)	Lysinuric protein intolerance [RCV003508095]	pathogenic	14	22813378	22813378	Human	1	name
405114806	CV2965050	single nucleotide variant	NM_003982.4(SLC7A7):c.285C>T (p.Thr95=)	Lysinuric protein intolerance [RCV003616250]	likely benign	14	22813114	22813114	Human	1	name
405115315	CV2973565	single nucleotide variant	NM_003982.4(SLC7A7):c.111C>T (p.Ile37=)	Lysinuric protein intolerance [RCV003616330]	likely benign	14	22813288	22813288	Human	1	name
405119588	CV3025236	single nucleotide variant	NM_003982.4(SLC7A7):c.171T>G (p.Val57=)	Lysinuric protein intolerance [RCV003616870]	likely benign	14	22813228	22813228	Human	1	name
405121165	CV3039144	single nucleotide variant	NM_003982.4(SLC7A7):c.141G>C (p.Val47=)	Lysinuric protein intolerance [RCV003617066]	likely benign	14	22813258	22813258	Human	1	name
405122572	CV3056468	single nucleotide variant	NM_003982.4(SLC7A7):c.216T>C (p.Ser72=)	Lysinuric protein intolerance [RCV003617246]	likely benign	14	22813183	22813183	Human	1	name
405122725	CV3056982	single nucleotide variant	NM_003982.4(SLC7A7):c.168T>C (p.Phe56=)	Lysinuric protein intolerance [RCV003617265]	likely benign	14	22813231	22813231	Human	1	name
405111056	CV3062321	single nucleotide variant	NM_003982.4(SLC7A7):c.115C>T (p.Leu39=)	Lysinuric protein intolerance [RCV003615585]	likely benign	14	22813284	22813284	Human	1	name
11620875	CV337417	single nucleotide variant	NM_003982.4(SLC7A7):c.234C>T (p.Val78=)	Lysinuric protein intolerance [RCV000342178]\|not provided [RCV001796740]\|not specified [RCV000436290]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	22813165	22813165	Human	1	name
597924306	CV3857513	single nucleotide variant	NM_003982.4(SLC7A7):c.237G>T (p.Gly79=)	Lysinuric protein intolerance [RCV005199130]	likely benign	14	22813162	22813162	Human	1	name
13539094	CV504956	single nucleotide variant	NM_003982.4(SLC7A7):c.273G>A (p.Ala91=)	Lysinuric protein intolerance [RCV000943175]\|not specified [RCV000612795]	likely benign	14	22813126	22813126	Human	1	name
15157743	CV714062	single nucleotide variant	NM_003982.4(SLC7A7):c.237G>A (p.Gly79=)	Lysinuric protein intolerance [RCV002066412]	likely benign	14	22813162	22813162	Human	1	name
15201820	CV753981	single nucleotide variant	NM_003982.4(SLC7A7):c.249C>T (p.Ser83=)	Lysinuric protein intolerance [RCV000913255]	likely benign	14	22813150	22813150	Human	1	name
15141555	CV753982	single nucleotide variant	NM_003982.4(SLC7A7):c.123C>T (p.Asn41=)	Lysinuric protein intolerance [RCV000921859]	likely benign\|conflicting interpretations of pathogenicity	14	22813276	22813276	Human	1	name
15202017	CV769728	single nucleotide variant	NM_003982.4(SLC7A7):c.153C>T (p.Ile51=)	Lysinuric protein intolerance [RCV000935829]	likely benign	14	22813246	22813246	Human	1	name
15184382	CV769729	single nucleotide variant	NM_003982.4(SLC7A7):c.144G>C (p.Gly48=)	Lysinuric protein intolerance [RCV001419415]	likely benign	14	22813255	22813255	Human	1	name
15143251	CV784678	single nucleotide variant	NM_003982.4(SLC7A7):c.201C>G (p.Ala67=)	Lysinuric protein intolerance [RCV001501464]	likely benign\|conflicting interpretations of pathogenicity	14	22813198	22813198	Human	1	name
126735694	CV995742	single nucleotide variant	NM_003982.4(SLC7A7):c.126C>T (p.Gly42=)	Lysinuric protein intolerance [RCV001295115]	uncertain significance	14	22813273	22813273	Human	1	name
127265337	CV1063075	duplication	NM_003982.4(SLC7A7):c.293dup (p.Lys99fs)	Lysinuric protein intolerance [RCV001381435]	pathogenic	14	22813105	22813106	Human	1	name
127231730	CV1080352	single nucleotide variant	NM_003982.4(SLC7A7):c.981C>T (p.Ser327=)	Lysinuric protein intolerance [RCV001395442]	likely benign	14	22775850	22775850	Human	1	name
127247572	CV1080353	single nucleotide variant	NM_003982.4(SLC7A7):c.966T>G (p.Gly322=)	Lysinuric protein intolerance [RCV001394284]	likely benign	14	22775865	22775865	Human	1	name
127264773	CV1080354	single nucleotide variant	NM_003982.4(SLC7A7):c.825C>T (p.Ile275=)	Lysinuric protein intolerance [RCV001403408]	likely benign	14	22776264	22776264	Human	1	name
127242863	CV1080356	single nucleotide variant	NM_003982.4(SLC7A7):c.729C>T (p.Asp243=)	Lysinuric protein intolerance [RCV001398254]	likely benign	14	22778834	22778834	Human	1	name
127239928	CV1080357	single nucleotide variant	NM_003982.4(SLC7A7):c.699C>T (p.Tyr233=)	Lysinuric protein intolerance [RCV001392828]	likely benign	14	22778864	22778864	Human	1	name
127282018	CV1080358	single nucleotide variant	NM_003982.4(SLC7A7):c.591G>T (p.Ala197=)	Lysinuric protein intolerance [RCV001410843]	likely benign	14	22779960	22779960	Human	1	name
127235577	CV1080359	single nucleotide variant	NM_003982.4(SLC7A7):c.588C>T (p.Ile196=)	Lysinuric protein intolerance [RCV001396715]	likely benign	14	22779963	22779963	Human	1	name
127239861	CV1080360	single nucleotide variant	NM_003982.4(SLC7A7):c.577T>C (p.Leu193=)	Lysinuric protein intolerance [RCV001392815]	likely benign	14	22779974	22779974	Human	1	name
127264776	CV1080361	single nucleotide variant	NM_003982.4(SLC7A7):c.564C>T (p.Thr188=)	Lysinuric protein intolerance [RCV001403409]	likely benign	14	22779987	22779987	Human	1	name
127247463	CV1080362	single nucleotide variant	NM_003982.4(SLC7A7):c.468T>C (p.Ala156=)	Lysinuric protein intolerance [RCV001399137]	likely benign	14	22812931	22812931	Human	1	name
127232473	CV1102162	single nucleotide variant	NM_003982.4(SLC7A7):c.975T>C (p.Asn325=)	Lysinuric protein intolerance [RCV001421324]	likely benign	14	22775856	22775856	Human	1	name
127259088	CV1102164	single nucleotide variant	NM_003982.4(SLC7A7):c.762T>C (p.Asn254=)	Lysinuric protein intolerance [RCV001438292]	likely benign	14	22778801	22778801	Human	1	name
127272127	CV1102165	single nucleotide variant	NM_003982.4(SLC7A7):c.732C>T (p.Thr244=)	Lysinuric protein intolerance [RCV001431195]	likely benign	14	22778831	22778831	Human	1	name
127263592	CV1102166	single nucleotide variant	NM_003982.4(SLC7A7):c.642T>C (p.Phe214=)	Lysinuric protein intolerance [RCV001439331]	likely benign	14	22778921	22778921	Human	1	name
127266584	CV1102167	single nucleotide variant	NM_003982.4(SLC7A7):c.519C>T (p.Asn173=)	Lysinuric protein intolerance [RCV001429428]	likely benign	14	22780032	22780032	Human	1	name
127233679	CV1102168	single nucleotide variant	NM_003982.4(SLC7A7):c.510C>T (p.Thr170=)	Lysinuric protein intolerance [RCV001421835]	likely benign	14	22780041	22780041	Human	1	name
127280301	CV1102169	single nucleotide variant	NM_003982.4(SLC7A7):c.480G>A (p.Leu160=)	Lysinuric protein intolerance [RCV001446367]	likely benign	14	22812919	22812919	Human	1	name
127259390	CV1102170	single nucleotide variant	NM_003982.4(SLC7A7):c.321C>T (p.Ile107=)	Lysinuric protein intolerance [RCV001427591]	likely benign	14	22813078	22813078	Human	1	name
127310983	CV1123610	single nucleotide variant	NM_003982.4(SLC7A7):c.688C>T (p.Leu230=)	Lysinuric protein intolerance [RCV001464045]	likely benign	14	22778875	22778875	Human	1	name
127297308	CV1123611	single nucleotide variant	NM_003982.4(SLC7A7):c.612T>C (p.Val204=)	Lysinuric protein intolerance [RCV001477577]	likely benign	14	22779939	22779939	Human	1	name
127331187	CV1123612	single nucleotide variant	NM_003982.4(SLC7A7):c.516T>C (p.Ile172=)	Lysinuric protein intolerance [RCV001471375]	likely benign	14	22780035	22780035	Human	1	name
127317441	CV1123614	single nucleotide variant	NM_003982.4(SLC7A7):c.447G>A (p.Pro149=)	Lysinuric protein intolerance [RCV001465885]	likely benign	14	22812952	22812952	Human	1	name
127297362	CV1123615	single nucleotide variant	NM_003982.4(SLC7A7):c.426C>T (p.Tyr142=)	Lysinuric protein intolerance [RCV001460232]	likely benign	14	22812973	22812973	Human	1	name
127314468	CV1123616	single nucleotide variant	NM_003982.4(SLC7A7):c.390C>G (p.Thr130=)	Lysinuric protein intolerance [RCV001464976]	likely benign	14	22813009	22813009	Human	1	name
127318571	CV1144456	single nucleotide variant	NM_003982.4(SLC7A7):c.864A>G (p.Arg288=)	Lysinuric protein intolerance [RCV001483563]	likely benign	14	22776225	22776225	Human	1	name
127312599	CV1144457	single nucleotide variant	NM_003982.4(SLC7A7):c.846T>C (p.Tyr282=)	Lysinuric protein intolerance [RCV001481716]	likely benign	14	22776243	22776243	Human	1	name
127328659	CV1144458	single nucleotide variant	NM_003982.4(SLC7A7):c.798C>G (p.Ser266=)	Lysinuric protein intolerance [RCV001486895]	likely benign	14	22776291	22776291	Human	1	name
127316084	CV1144459	single nucleotide variant	NM_003982.4(SLC7A7):c.675G>C (p.Val225=)	Lysinuric protein intolerance [RCV001502919]	likely benign	14	22778888	22778888	Human	1	name
127316939	CV1144460	single nucleotide variant	NM_003982.4(SLC7A7):c.603A>G (p.Ala201=)	Lysinuric protein intolerance [RCV001483019]	likely benign	14	22779948	22779948	Human	1	name
127297054	CV1144461	single nucleotide variant	NM_003982.4(SLC7A7):c.558T>C (p.Ile186=)	Lysinuric protein intolerance [RCV001497685]	likely benign	14	22779993	22779993	Human	1	name
127311164	CV1144462	single nucleotide variant	NM_003982.4(SLC7A7):c.471C>T (p.Ala157=)	Lysinuric protein intolerance [RCV001501549]	likely benign	14	22812928	22812928	Human	1	name
127314480	CV1144463	single nucleotide variant	NM_003982.4(SLC7A7):c.402C>T (p.Ile134=)	Lysinuric protein intolerance [RCV001482228]	likely benign	14	22812997	22812997	Human	1	name
127303665	CV1144464	single nucleotide variant	NM_003982.4(SLC7A7):c.399C>A (p.Ala133=)	Lysinuric protein intolerance [RCV001499455]	likely benign	14	22813000	22813000	Human	1	name
150414950	CV1177760	deletion	NM_003982.4(SLC7A7):c.499+258_499+260del	not provided [RCV001548360]	likely benign	14	22812640	22812642	Human		name
150453129	CV1231789	deletion	NM_003982.4(SLC7A7):c.499+259_499+260del	not provided [RCV001648096]	benign	14	22812640	22812641	Human		name
151884213	CV1428577	single nucleotide variant	NM_003982.4(SLC7A7):c.88C>T (p.Gln30Ter)	Lysinuric protein intolerance [RCV002000223]	pathogenic\|likely pathogenic	14	22813311	22813311	Human	1	name
8692933	CV142899	single nucleotide variant	NM_003982.4(SLC7A7):c.660T>C (p.Gly220=)	Lysinuric protein intolerance [RCV000386522]\|not provided [RCV001824628]\|not specified [RCV000128146]	benign\|not provided	14	22778903	22778903	Human	1	name
8692936	CV142902	single nucleotide variant	NM_003982.4(SLC7A7):c.498T>C (p.Ile166=)	Lysinuric protein intolerance [RCV000333159]\|not provided [RCV001824631]\|not specified [RCV000128149]	benign\|not provided	14	22812901	22812901	Human	1	name
151729574	CV1440917	single nucleotide variant	NM_003982.4(SLC7A7):c.40G>A (p.Glu14Lys)	Lysinuric protein intolerance [RCV001945902]	uncertain significance	14	22813359	22813359	Human	1	name
151832572	CV1455978	single nucleotide variant	NM_003982.4(SLC7A7):c.98T>C (p.Leu33Pro)	Lysinuric protein intolerance [RCV002050868]	uncertain significance	14	22813301	22813301	Human	1	name
152025784	CV1527989	single nucleotide variant	NM_003982.4(SLC7A7):c.478C>T (p.Leu160=)	Lysinuric protein intolerance [RCV002084580]	likely benign	14	22812921	22812921	Human	1	name
152135318	CV1560339	single nucleotide variant	NM_003982.4(SLC7A7):c.345T>C (p.Leu115=)	Lysinuric protein intolerance [RCV002137458]	likely benign	14	22813054	22813054	Human	1	name
152136990	CV1563320	single nucleotide variant	NM_003982.4(SLC7A7):c.813C>A (p.Thr271=)	Lysinuric protein intolerance [RCV002200079]	likely benign	14	22776276	22776276	Human	1	name
152116722	CV1569707	single nucleotide variant	NM_003982.4(SLC7A7):c.618T>G (p.Leu206=)	Lysinuric protein intolerance [RCV002117290]	likely benign	14	22779933	22779933	Human	1	name
152068560	CV1571224	single nucleotide variant	NM_003982.4(SLC7A7):c.555T>C (p.Asp185=)	Lysinuric protein intolerance [RCV002129299]	likely benign	14	22779996	22779996	Human	1	name
152087204	CV1578316	deletion	NM_003982.4(SLC7A7):c.1246-24_1246-20del	Lysinuric protein intolerance [RCV002171334]	benign	14	22774136	22774140	Human	1	name
152055942	CV1582228	single nucleotide variant	NM_003982.4(SLC7A7):c.972C>G (p.Leu324=)	Lysinuric protein intolerance [RCV002089707]\|not provided [RCV004721016]	likely benign\|uncertain significance	14	22775859	22775859	Human	1	name
152136256	CV1587819	single nucleotide variant	NM_003982.4(SLC7A7):c.477C>T (p.Arg159=)	Lysinuric protein intolerance [RCV002083544]	likely benign	14	22812922	22812922	Human	1	name
152141820	CV1588597	single nucleotide variant	NM_003982.4(SLC7A7):c.645G>A (p.Glu215=)	Lysinuric protein intolerance [RCV002200673]	likely benign	14	22778918	22778918	Human	1	name
152172407	CV1599115	single nucleotide variant	NM_003982.4(SLC7A7):c.528T>C (p.Tyr176=)	Lysinuric protein intolerance [RCV002143769]	likely benign	14	22780023	22780023	Human	1	name
152036935	CV1605460	single nucleotide variant	NM_003982.4(SLC7A7):c.420C>T (p.Ala140=)	Lysinuric protein intolerance [RCV002087371]	likely benign	14	22812979	22812979	Human	1	name
152145095	CV1616443	single nucleotide variant	NM_003982.4(SLC7A7):c.708G>T (p.Leu236=)	Lysinuric protein intolerance [RCV002120908]	likely benign	14	22778855	22778855	Human	1	name
152168910	CV1626422	single nucleotide variant	NM_003982.4(SLC7A7):c.390C>T (p.Thr130=)	Lysinuric protein intolerance [RCV002182610]	likely benign	14	22813009	22813009	Human	1	name
152027412	CV1626909	single nucleotide variant	NM_003982.4(SLC7A7):c.852G>A (p.Val284=)	Lysinuric protein intolerance [RCV002185490]	likely benign	14	22776237	22776237	Human	1	name
152131920	CV1633266	single nucleotide variant	NM_003982.4(SLC7A7):c.321C>A (p.Ile107=)	Lysinuric protein intolerance [RCV002137034]	likely benign	14	22813078	22813078	Human	1	name
152035914	CV1636077	single nucleotide variant	NM_003982.4(SLC7A7):c.583C>T (p.Leu195=)	Lysinuric protein intolerance [RCV002106973]	likely benign	14	22779968	22779968	Human	1	name
156215844	CV1869311	single nucleotide variant	NM_003982.4(SLC7A7):c.98T>A (p.Leu33Gln)	Lysinuric protein intolerance [RCV003058721]\|not provided [RCV004790337]	uncertain significance	14	22813301	22813301	Human	1	name
156408552	CV1911668	single nucleotide variant	NM_003982.4(SLC7A7):c.55C>A (p.Pro19Thr)	Lysinuric protein intolerance [RCV002607271]	uncertain significance	14	22813344	22813344	Human	1	name
156058388	CV1928905	single nucleotide variant	NM_003982.4(SLC7A7):c.29C>T (p.Ala10Val)	Lysinuric protein intolerance [RCV002620858]	uncertain significance	14	22813370	22813370	Human	1	name
156223747	CV1934413	single nucleotide variant	NM_003982.4(SLC7A7):c.83C>T (p.Pro28Leu)	Inborn genetic diseases [RCV002644517]\|Lysinuric protein intolerance [RCV002644516]	uncertain significance	14	22813316	22813316	Human	2	name
155914261	CV1990353	duplication	NM_003982.4(SLC7A7):c.110dup (p.Ser38fs)	Lysinuric protein intolerance [RCV002614213]	pathogenic	14	22813288	22813289	Human	1	name
155901886	CV1999153	single nucleotide variant	NM_003982.4(SLC7A7):c.606C>T (p.Gly202=)	Lysinuric protein intolerance [RCV002681153]	uncertain significance	14	22779945	22779945	Human	1	name
156130361	CV2002098	single nucleotide variant	NM_003982.4(SLC7A7):c.531C>T (p.Val177=)	Lysinuric protein intolerance [RCV002663196]	likely benign	14	22780020	22780020	Human	1	name
155943624	CV2032505	single nucleotide variant	NM_003982.4(SLC7A7):c.777G>T (p.Leu259=)	Lysinuric protein intolerance [RCV002730276]	likely benign	14	22776312	22776312	Human	1	name
156325530	CV2032506	single nucleotide variant	NM_003982.4(SLC7A7):c.775C>T (p.Leu259=)	Lysinuric protein intolerance [RCV002717384]	likely benign	14	22776314	22776314	Human	1	name
155935906	CV2058006	single nucleotide variant	NM_003982.4(SLC7A7):c.627A>G (p.Gly209=)	Lysinuric protein intolerance [RCV002815369]	likely benign	14	22778936	22778936	Human	1	name
156053503	CV2064687	single nucleotide variant	NM_003982.4(SLC7A7):c.483G>A (p.Leu161=)	Lysinuric protein intolerance [RCV002846517]	likely benign	14	22812916	22812916	Human	1	name
156234101	CV2093960	single nucleotide variant	NM_003982.4(SLC7A7):c.522T>C (p.Cys174=)	Lysinuric protein intolerance [RCV002894665]	likely benign	14	22780029	22780029	Human	1	name
156336684	CV2095806	single nucleotide variant	NM_003982.4(SLC7A7):c.828G>A (p.Leu276=)	Lysinuric protein intolerance [RCV002900241]	likely benign	14	22776261	22776261	Human	1	name
156343297	CV2124012	single nucleotide variant	NM_003982.4(SLC7A7):c.822T>C (p.Tyr274=)	Lysinuric protein intolerance [RCV002939018]	likely benign	14	22776267	22776267	Human	1	name
155978203	CV2132563	single nucleotide variant	NM_003982.4(SLC7A7):c.369C>G (p.Ser123=)	Lysinuric protein intolerance [RCV002995963]	likely benign	14	22813030	22813030	Human	1	name
156076734	CV2141787	single nucleotide variant	NM_003982.4(SLC7A7):c.834T>C (p.Asn278=)	Lysinuric protein intolerance [RCV002979116]	likely benign	14	22776255	22776255	Human	1	name
156026531	CV2145731	single nucleotide variant	NM_003982.4(SLC7A7):c.837G>A (p.Val279=)	Lysinuric protein intolerance [RCV003018486]	likely benign	14	22776252	22776252	Human	1	name
156001828	CV2145933	single nucleotide variant	NM_003982.4(SLC7A7):c.459C>T (p.Ala153=)	Lysinuric protein intolerance [RCV002997060]	likely benign	14	22812940	22812940	Human	1	name
155917757	CV2152433	single nucleotide variant	NM_003982.4(SLC7A7):c.891T>C (p.Ala297=)	Lysinuric protein intolerance [RCV002991742]	likely benign	14	22776198	22776198	Human	1	name
156189747	CV2160777	single nucleotide variant	NM_003982.4(SLC7A7):c.423C>T (p.Asn141=)	Lysinuric protein intolerance [RCV003024092]	likely benign	14	22812976	22812976	Human	1	name
156076168	CV2165606	single nucleotide variant	NM_003982.4(SLC7A7):c.330C>T (p.Ala110=)	Lysinuric protein intolerance [RCV003037726]	likely benign	14	22813069	22813069	Human	1	name
156177253	CV2166428	single nucleotide variant	NM_003982.4(SLC7A7):c.615A>G (p.Arg205=)	Lysinuric protein intolerance [RCV003023714]	likely benign	14	22779936	22779936	Human	1	name
401949232	CV2836559	single nucleotide variant	NM_003982.4(SLC7A7):c.94A>T (p.Lys32Ter)	Lysinuric protein intolerance [RCV003474023]	likely pathogenic	14	22813305	22813305	Human	1	name
401949222	CV2836569	deletion	NM_003982.4(SLC7A7):c.177del (p.Lys60fs)	Lysinuric protein intolerance [RCV003474033]	likely pathogenic	14	22813222	22813222	Human	1	name
402497793	CV2869209	single nucleotide variant	NM_003982.4(SLC7A7):c.831C>G (p.Thr277=)	Lysinuric protein intolerance [RCV003508335]	likely benign	14	22776258	22776258	Human	1	name
402499741	CV2892245	single nucleotide variant	NM_003982.4(SLC7A7):c.804C>T (p.Pro268=)	Lysinuric protein intolerance [RCV003508584]	likely benign	14	22776285	22776285	Human	1	name
402484369	CV2906835	single nucleotide variant	NM_003982.4(SLC7A7):c.481C>T (p.Leu161=)	Lysinuric protein intolerance [RCV003506828]	likely benign	14	22812918	22812918	Human	1	name
402493566	CV2929882	single nucleotide variant	NM_003982.4(SLC7A7):c.963T>C (p.Phe321=)	Lysinuric protein intolerance [RCV003507909]	likely benign	14	22775868	22775868	Human	1	name
405113012	CV2943100	single nucleotide variant	NM_003982.4(SLC7A7):c.543C>A (p.Thr181=)	Lysinuric protein intolerance [RCV003615965]	likely benign	14	22780008	22780008	Human	1	name
405113307	CV2947756	single nucleotide variant	NM_003982.4(SLC7A7):c.543C>T (p.Thr181=)	Lysinuric protein intolerance [RCV003616015]	likely benign	14	22780008	22780008	Human	1	name
405113710	CV2949132	single nucleotide variant	NM_003982.4(SLC7A7):c.756C>T (p.Ile252=)	Lysinuric protein intolerance [RCV003616062]	likely benign	14	22778807	22778807	Human	1	name
405114144	CV2958821	single nucleotide variant	NM_003982.4(SLC7A7):c.984T>A (p.Ile328=)	Lysinuric protein intolerance [RCV003616135]	likely benign	14	22775847	22775847	Human	1	name
405114130	CV2962038	single nucleotide variant	NM_003982.4(SLC7A7):c.940C>T (p.Leu314=)	Lysinuric protein intolerance [RCV003616133]	likely benign	14	22775891	22775891	Human	1	name
405114582	CV2967298	single nucleotide variant	NM_003982.4(SLC7A7):c.993T>C (p.Ala331=)	Lysinuric protein intolerance [RCV003616209]	likely benign	14	22775838	22775838	Human	1	name
405116234	CV2979550	single nucleotide variant	NM_003982.4(SLC7A7):c.888T>C (p.Val296=)	Lysinuric protein intolerance [RCV003616446]	likely benign	14	22776201	22776201	Human	1	name
405117813	CV2993644	single nucleotide variant	NM_003982.4(SLC7A7):c.447G>T (p.Pro149=)	Lysinuric protein intolerance [RCV003616647]	likely benign	14	22812952	22812952	Human	1	name
405117573	CV2999931	deletion	NM_003982.4(SLC7A7):c.285del (p.Thr96fs)	Lysinuric protein intolerance [RCV003616618]	pathogenic	14	22813114	22813114	Human	1	name
405117871	CV3000613	single nucleotide variant	NM_003982.4(SLC7A7):c.369C>T (p.Ser123=)	Lysinuric protein intolerance [RCV003616654]	likely benign	14	22813030	22813030	Human	1	name
405117381	CV3002399	single nucleotide variant	NM_003982.4(SLC7A7):c.525C>T (p.Ala175=)	Lysinuric protein intolerance [RCV003616593]	likely benign	14	22780026	22780026	Human	1	name
405118701	CV3016003	single nucleotide variant	NM_003982.4(SLC7A7):c.435G>A (p.Gln145=)	Lysinuric protein intolerance [RCV003616758]	likely benign	14	22812964	22812964	Human	1	name
405119479	CV3021671	single nucleotide variant	NM_003982.4(SLC7A7):c.936T>A (p.Ile312=)	Lysinuric protein intolerance [RCV003616857]	likely benign	14	22775895	22775895	Human	1	name
405119762	CV3025659	single nucleotide variant	NM_003982.4(SLC7A7):c.807T>C (p.Ile269=)	Lysinuric protein intolerance [RCV003616894]	likely benign	14	22776282	22776282	Human	1	name
405122514	CV3052483	single nucleotide variant	NM_003982.4(SLC7A7):c.613A>C (p.Arg205=)	Lysinuric protein intolerance [RCV003617236]	likely benign	14	22779938	22779938	Human	1	name
405122988	CV3064062	single nucleotide variant	NM_003982.4(SLC7A7):c.447G>C (p.Pro149=)	Lysinuric protein intolerance [RCV003617298]	likely benign	14	22812952	22812952	Human	1	name
405110879	CV3068635	single nucleotide variant	NM_003982.4(SLC7A7):c.366C>T (p.Thr122=)	Lysinuric protein intolerance [RCV003615557]	likely benign	14	22813033	22813033	Human	1	name
405111953	CV3071043	single nucleotide variant	NM_003982.4(SLC7A7):c.504C>G (p.Leu168=)	Lysinuric protein intolerance [RCV003615702]	likely benign	14	22780047	22780047	Human	1	name
405111727	CV3079288	deletion	NM_003982.4(SLC7A7):c.1246-19_1246-18del	Lysinuric protein intolerance [RCV003615689]	likely benign	14	22774134	22774135	Human	1	name
405111989	CV3079364	deletion	NM_003982.4(SLC7A7):c.1429+15_1429+17del	Lysinuric protein intolerance [RCV003615708]	likely benign	14	22773916	22773918	Human	1	name
405122515	CV3126270	single nucleotide variant	NM_003982.4(SLC7A7):c.675G>A (p.Val225=)	Lysinuric protein intolerance [RCV003815022]	likely benign	14	22778888	22778888	Human	1	name
405217065	CV3153731	single nucleotide variant	NM_003982.4(SLC7A7):c.411C>A (p.Ile137=)	Lysinuric protein intolerance [RCV003846614]	likely benign	14	22812988	22812988	Human	1	name
405203249	CV3165180	single nucleotide variant	NM_003982.4(SLC7A7):c.783C>T (p.Leu261=)	Lysinuric protein intolerance [RCV003861041]	likely benign	14	22776306	22776306	Human	1	name
402483941	CV3171216	single nucleotide variant	NM_003982.4(SLC7A7):c.708G>A (p.Leu236=)	Lysinuric protein intolerance [RCV003876243]	likely benign	14	22778855	22778855	Human	1	name
11606271	CV320322	single nucleotide variant	NM_003982.4(SLC7A7):c.720A>C (p.Ser240=)	Autoinflammatory syndrome [RCV002262979]\|Lysinuric protein intolerance [RCV000329715]\|not provided [RCV001706476]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	22778843	22778843	Human	2	name
11606883	CV320323	single nucleotide variant	NM_003982.4(SLC7A7):c.456C>T (p.Phe152=)	Autoinflammatory syndrome [RCV002262980]\|Lysinuric protein intolerance [RCV000336852]\|not provided [RCV004707121]\|not specified [RCV000421977]	benign\|likely benign\|conflicting interpretations of pathogenicity	14	22812943	22812943	Human	2	name
11611542	CV320328	single nucleotide variant	NM_003982.4(SLC7A7):c.342C>T (p.Phe114=)	Lysinuric protein intolerance [RCV000396241]	conflicting interpretations of pathogenicity\|uncertain significance	14	22813057	22813057	Human	1	name
11615353	CV337415	single nucleotide variant	NM_003982.4(SLC7A7):c.339A>C (p.Gly113=)	Lysinuric protein intolerance [RCV000284819]\|not specified [RCV000420340]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	22813060	22813060	Human	1	name
597688754	CV3710748	deletion	NM_003982.4(SLC7A7):c.255del (p.Phe85fs)	Lysinuric protein intolerance [RCV005007163]	likely pathogenic	14	22813144	22813144	Human	1	name
597688778	CV3710750	single nucleotide variant	NM_003982.4(SLC7A7):c.49A>G (p.Thr17Ala)	Lysinuric protein intolerance [RCV005007165]	uncertain significance	14	22813350	22813350	Human	1	name
597688787	CV3710751	single nucleotide variant	NM_003982.4(SLC7A7):c.34C>T (p.Gln12Ter)	Lysinuric protein intolerance [RCV005007166]	likely pathogenic	14	22813365	22813365	Human	1	name
12841452	CV373000	single nucleotide variant	NM_003982.4(SLC7A7):c.681C>T (p.Asp227=)	Lysinuric protein intolerance [RCV000932523]\|not specified [RCV000432615]	likely benign	14	22778882	22778882	Human	1	name
12845706	CV373718	single nucleotide variant	NM_003982.4(SLC7A7):c.966T>C (p.Gly322=)	Lysinuric protein intolerance [RCV001417043]\|not specified [RCV000440303]	likely benign	14	22775865	22775865	Human	1	name
12838128	CV374102	single nucleotide variant	NM_003982.4(SLC7A7):c.795C>T (p.Ile265=)	Lysinuric protein intolerance [RCV000931804]\|not specified [RCV000426399]	likely benign	14	22776294	22776294	Human	1	name
597880547	CV3744832	single nucleotide variant	NM_003982.4(SLC7A7):c.312T>C (p.Tyr104=)	Lysinuric protein intolerance [RCV005069857]	likely benign	14	22813087	22813087	Human	1	name
597842152	CV3776961	single nucleotide variant	NM_003982.4(SLC7A7):c.531C>G (p.Val177=)	Lysinuric protein intolerance [RCV005117120]	likely benign	14	22780020	22780020	Human	1	name
597871082	CV3806165	single nucleotide variant	NM_003982.4(SLC7A7):c.64G>A (p.Asp22Asn)	Lysinuric protein intolerance [RCV005145907]	uncertain significance	14	22813335	22813335	Human	1	name
12906823	CV415385	single nucleotide variant	NM_003982.4(SLC7A7):c.999G>A (p.Arg333=)	Autoinflammatory syndrome [RCV002263700]\|Lysinuric protein intolerance [RCV000634956]\|not provided [RCV000489698]	conflicting interpretations of pathogenicity\|uncertain significance	14	22775540	22775540	Human	2	name
13538443	CV504685	single nucleotide variant	NM_003982.4(SLC7A7):c.862A>C (p.Arg288=)	Lysinuric protein intolerance [RCV000930622]\|not specified [RCV000611841]	likely benign	14	22776227	22776227	Human	1	name
13539362	CV504692	single nucleotide variant	NM_003982.4(SLC7A7):c.375C>G (p.Leu125=)	Lysinuric protein intolerance [RCV001476478]\|not specified [RCV000613175]	likely benign	14	22813024	22813024	Human	1	name
13618415	CV527981	single nucleotide variant	NM_003982.4(SLC7A7):c.597C>T (p.Ile199=)	Lysinuric protein intolerance [RCV000634960]	likely benign	14	22779954	22779954	Human	1	name
13815324	CV568754	single nucleotide variant	NM_003982.4(SLC7A7):c.91G>C (p.Val31Leu)	Lysinuric protein intolerance [RCV000705635]\|not provided [RCV005243346]	conflicting interpretations of pathogenicity\|uncertain significance	14	22813308	22813308	Human	1	name
14744286	CV656227	single nucleotide variant	NM_003982.4(SLC7A7):c.375C>T (p.Leu125=)	not provided [RCV000842651]	likely benign	14	22813024	22813024	Human		name
14746260	CV666498	duplication	NM_003982.4(SLC7A7):c.-42-263_-42-260dup	not provided [RCV000844248]	benign	14	22813699	22813700	Human		name
15161910	CV739167	single nucleotide variant	NM_003982.4(SLC7A7):c.543C>G (p.Thr181=)	Autoinflammatory syndrome [RCV002264071]\|Lysinuric protein intolerance [RCV000903445]\|SLC7A7-related disorder [RCV003968280]	likely benign	14	22780008	22780008	Human	2	name , trait , alternate_id
15116264	CV753978	single nucleotide variant	NM_003982.4(SLC7A7):c.882T>C (p.Asp294=)	Lysinuric protein intolerance [RCV000917596]	likely benign	14	22776207	22776207	Human	1	name
15133192	CV753979	single nucleotide variant	NM_003982.4(SLC7A7):c.735C>T (p.Leu245=)	Lysinuric protein intolerance [RCV003507333]	likely benign	14	22778828	22778828	Human	1	name
15132695	CV753980	single nucleotide variant	NM_003982.4(SLC7A7):c.549A>C (p.Val183=)	Lysinuric protein intolerance [RCV000920387]	likely benign\|conflicting interpretations of pathogenicity	14	22780002	22780002	Human	1	name
15185543	CV769726	single nucleotide variant	NM_003982.4(SLC7A7):c.666A>C (p.Ser222=)	Lysinuric protein intolerance [RCV001407434]	likely benign	14	22778897	22778897	Human	1	name
15107182	CV769727	single nucleotide variant	NM_003982.4(SLC7A7):c.486T>G (p.Ala162=)	Lysinuric protein intolerance [RCV001477344]	likely benign	14	22812913	22812913	Human	1	name
15127809	CV784676	single nucleotide variant	NM_003982.4(SLC7A7):c.792C>G (p.Gly264=)	Lysinuric protein intolerance [RCV000980606]	likely benign	14	22776297	22776297	Human	1	name
15132877	CV784677	single nucleotide variant	NM_003982.4(SLC7A7):c.474C>T (p.Ser158=)	Lysinuric protein intolerance [RCV000981462]	likely benign	14	22812925	22812925	Human	1	name
28912050	CV871730	single nucleotide variant	NM_003982.4(SLC7A7):c.591G>A (p.Ala197=)	Autoinflammatory syndrome [RCV002264187]\|Lysinuric protein intolerance [RCV001111558]\|not provided [RCV004693676]	conflicting interpretations of pathogenicity\|uncertain significance	14	22779960	22779960	Human	2	name
40906328	CV979472	single nucleotide variant	NM_003982.4(SLC7A7):c.585G>A (p.Leu195=)	Lysinuric protein intolerance [RCV001279689]	likely benign\|uncertain significance	14	22779966	22779966	Human	1	name
126739074	CV1021190	deletion	NM_003982.4(SLC7A7):c.377del (p.Ile126fs)	Lysinuric protein intolerance [RCV001335669]\|SLC7A7-related disorder [RCV003405563]	pathogenic\|likely pathogenic	14	22813022	22813022	Human	1	name , trait , alternate_id
126920398	CV1048466	single nucleotide variant	NM_003982.4(SLC7A7):c.106G>A (p.Glu36Lys)	Lysinuric protein intolerance [RCV001373782]	uncertain significance	14	22813293	22813293	Human	1	name
127269315	CV1063071	duplication	NM_003982.4(SLC7A7):c.889dup (p.Ala297fs)	Lysinuric protein intolerance [RCV001389484]	pathogenic	14	22776199	22776200	Human	1	name
127233185	CV1080338	single nucleotide variant	NM_003982.4(SLC7A7):c.1535A>G (p.Ter512=)	Lysinuric protein intolerance [RCV001413780]	likely benign	14	22773611	22773611	Human	1	name
127282069	CV1080339	single nucleotide variant	NM_003982.4(SLC7A7):c.1516C>A (p.Arg506=)	Lysinuric protein intolerance [RCV001410875]	likely benign	14	22773630	22773630	Human	1	name
127258500	CV1080340	single nucleotide variant	NM_003982.4(SLC7A7):c.1515A>G (p.Gln505=)	Lysinuric protein intolerance [RCV001401700]	likely benign	14	22773631	22773631	Human	1	name
127241838	CV1080341	single nucleotide variant	NM_003982.4(SLC7A7):c.1458G>C (p.Leu486=)	Lysinuric protein intolerance [RCV001415869]	likely benign	14	22773688	22773688	Human	1	name
127260158	CV1080342	single nucleotide variant	NM_003982.4(SLC7A7):c.1269C>T (p.Val423=)	Lysinuric protein intolerance [RCV001402128]	likely benign	14	22774093	22774093	Human	1	name
127283153	CV1080344	single nucleotide variant	NM_003982.4(SLC7A7):c.1155C>T (p.Tyr385=)	Lysinuric protein intolerance [RCV001411586]	likely benign	14	22774444	22774444	Human	1	name
127269917	CV1080345	single nucleotide variant	NM_003982.4(SLC7A7):c.1149C>T (p.Asn383=)	Lysinuric protein intolerance [RCV001404839]	likely benign	14	22774450	22774450	Human	1	name
127240708	CV1080348	single nucleotide variant	NM_003982.4(SLC7A7):c.1041C>T (p.Ala347=)	Lysinuric protein intolerance [RCV001392973]	likely benign	14	22775498	22775498	Human	1	name
127265319	CV1080349	single nucleotide variant	NM_003982.4(SLC7A7):c.1041C>A (p.Ala347=)	Lysinuric protein intolerance [RCV001403542]	likely benign	14	22775498	22775498	Human	1	name
127233942	CV1080350	single nucleotide variant	NM_003982.4(SLC7A7):c.1029T>C (p.His343=)	Lysinuric protein intolerance [RCV001414101]	likely benign	14	22775510	22775510	Human	1	name
127258831	CV1080351	single nucleotide variant	NM_003982.4(SLC7A7):c.1008T>C (p.Phe336=)	Lysinuric protein intolerance [RCV001419631]	likely benign	14	22775531	22775531	Human	1	name
127271093	CV1102161	single nucleotide variant	NM_003982.4(SLC7A7):c.1116C>T (p.Tyr372=)	Lysinuric protein intolerance [RCV001430821]	likely benign	14	22774483	22774483	Human	1	name
127291357	CV1123605	single nucleotide variant	NM_003982.4(SLC7A7):c.1287C>A (p.Ile429=)	Lysinuric protein intolerance [RCV001451472]	likely benign	14	22774075	22774075	Human	1	name
127310054	CV1123606	single nucleotide variant	NM_003982.4(SLC7A7):c.1275C>T (p.Cys425=)	Lysinuric protein intolerance [RCV001463774]	likely benign	14	22774087	22774087	Human	1	name
127302502	CV1123607	single nucleotide variant	NM_003982.4(SLC7A7):c.1239C>G (p.Pro413=)	Lysinuric protein intolerance [RCV001454457]	likely benign	14	22774360	22774360	Human	1	name
127337337	CV1123608	single nucleotide variant	NM_003982.4(SLC7A7):c.1228C>A (p.Arg410=)	Lysinuric protein intolerance [RCV001475616]	likely benign	14	22774371	22774371	Human	1	name
127320138	CV1123609	single nucleotide variant	NM_003982.4(SLC7A7):c.1110G>A (p.Leu370=)	Lysinuric protein intolerance [RCV001466828]	likely benign	14	22774489	22774489	Human	1	name
127303472	CV1144449	single nucleotide variant	NM_003982.4(SLC7A7):c.1452G>A (p.Gln484=)	Lysinuric protein intolerance [RCV001499408]	likely benign	14	22773694	22773694	Human	1	name
127314594	CV1144450	single nucleotide variant	NM_003982.4(SLC7A7):c.1356A>G (p.Ser452=)	Lysinuric protein intolerance [RCV001502523]\|not provided [RCV003992530]	likely benign	14	22774006	22774006	Human	1	name
127312645	CV1144451	single nucleotide variant	NM_003982.4(SLC7A7):c.1350C>T (p.Ala450=)	Lysinuric protein intolerance [RCV001501977]	likely benign	14	22774012	22774012	Human	1	name
127328299	CV1144452	single nucleotide variant	NM_003982.4(SLC7A7):c.1251C>T (p.Ser417=)	Lysinuric protein intolerance [RCV001486722]	likely benign	14	22774111	22774111	Human	1	name
150532605	CV1293568	single nucleotide variant	NM_003982.4(SLC7A7):c.242T>C (p.Leu81Pro)	Lysinuric protein intolerance [RCV002488516]\|not provided [RCV001757845]	uncertain significance	14	22813157	22813157	Human	1	name
150550162	CV1300090	single nucleotide variant	NM_003982.4(SLC7A7):c.227G>T (p.Trp76Leu)	not provided [RCV001765560]	uncertain significance	14	22813172	22813172	Human		name
151801138	CV1354159	deletion	NM_003982.4(SLC7A7):c.949del (p.Ala317fs)	Lysinuric protein intolerance [RCV001867137]	pathogenic	14	22775882	22775882	Human	1	name
151750642	CV1360856	single nucleotide variant	NM_003982.4(SLC7A7):c.269A>G (p.Tyr90Cys)	Inborn genetic diseases [RCV004968368]\|Lysinuric protein intolerance [RCV001894294]	uncertain significance	14	22813130	22813130	Human	2	name
151884992	CV1364196	deletion	NM_003982.4(SLC7A7):c.371del (p.Leu124fs)	Lysinuric protein intolerance [RCV002037666]	pathogenic	14	22813028	22813028	Human	1	name
151806254	CV1427408	deletion	NM_003982.4(SLC7A7):c.539del (p.Gly180fs)	Lysinuric protein intolerance [RCV001899525]	pathogenic\|likely pathogenic	14	22780012	22780012	Human	1	name
8692934	CV142900	single nucleotide variant	NM_003982.4(SLC7A7):c.1527A>G (p.Lys509=)	Lysinuric protein intolerance [RCV000398235]\|not provided [RCV001824629]\|not specified [RCV000128147]	benign\|not provided	14	22773619	22773619	Human	1	name
151875504	CV1458447	single nucleotide variant	NM_003982.4(SLC7A7):c.191T>C (p.Ile64Thr)	Lysinuric protein intolerance [RCV001998886]	uncertain significance	14	22813208	22813208	Human	1	name
151838561	CV1492737	single nucleotide variant	NM_003982.4(SLC7A7):c.118C>T (p.Leu40Phe)	Lysinuric protein intolerance [RCV001881067]	uncertain significance	14	22813281	22813281	Human	1	name
152069452	CV1526515	single nucleotide variant	NM_003982.4(SLC7A7):c.1320T>C (p.Thr440=)	Lysinuric protein intolerance [RCV002074899]	likely benign	14	22774042	22774042	Human	1	name
152088268	CV1527358	single nucleotide variant	NM_003982.4(SLC7A7):c.1344C>T (p.Ala448=)	Lysinuric protein intolerance [RCV002093814]	likely benign	14	22774018	22774018	Human	1	name
152038093	CV1530389	single nucleotide variant	NM_003982.4(SLC7A7):c.1467A>T (p.Ser489=)	Lysinuric protein intolerance [RCV002087543]	likely benign	14	22773679	22773679	Human	1	name
152166998	CV1534761	single nucleotide variant	NM_003982.4(SLC7A7):c.1476A>G (p.Ala492=)	Lysinuric protein intolerance [RCV002160762]	likely benign	14	22773670	22773670	Human	1	name
152070020	CV1535126	single nucleotide variant	NM_003982.4(SLC7A7):c.1290C>T (p.Phe430=)	Lysinuric protein intolerance [RCV002111319]	likely benign	14	22774072	22774072	Human	1	name
152117160	CV1541103	single nucleotide variant	NM_003982.4(SLC7A7):c.1207C>T (p.Leu403=)	Lysinuric protein intolerance [RCV002197547]	likely benign	14	22774392	22774392	Human	1	name
152080296	CV1546497	single nucleotide variant	NM_003982.4(SLC7A7):c.1221G>A (p.Glu407=)	Lysinuric protein intolerance [RCV002130738]	likely benign	14	22774378	22774378	Human	1	name
152082575	CV1548475	single nucleotide variant	NM_003982.4(SLC7A7):c.1374C>T (p.Phe458=)	Lysinuric protein intolerance [RCV002076568]	likely benign	14	22773988	22773988	Human	1	name
152125365	CV1580774	single nucleotide variant	NM_003982.4(SLC7A7):c.1449C>T (p.Leu483=)	Lysinuric protein intolerance [RCV002082136]	likely benign	14	22773697	22773697	Human	1	name
152039330	CV1592723	single nucleotide variant	NM_003982.4(SLC7A7):c.1014C>G (p.Gly338=)	Lysinuric protein intolerance [RCV002188017]	likely benign	14	22775525	22775525	Human	1	name
152098307	CV1595382	single nucleotide variant	NM_003982.4(SLC7A7):c.1248C>G (p.Leu416=)	Lysinuric protein intolerance [RCV002213660]	likely benign	14	22774114	22774114	Human	1	name
152070868	CV1601031	single nucleotide variant	NM_003982.4(SLC7A7):c.1329C>T (p.Ser443=)	Lysinuric protein intolerance [RCV002111430]	likely benign	14	22774033	22774033	Human	1	name
152065423	CV1601455	single nucleotide variant	NM_003982.4(SLC7A7):c.1380C>T (p.Ile460=)	Lysinuric protein intolerance [RCV002168582]	likely benign	14	22773982	22773982	Human	1	name
152088180	CV1626109	single nucleotide variant	NM_003982.4(SLC7A7):c.1032C>T (p.Leu344=)	Lysinuric protein intolerance [RCV002131712]	likely benign	14	22775507	22775507	Human	1	name
152171448	CV1628280	single nucleotide variant	NM_003982.4(SLC7A7):c.1524C>G (p.Pro508=)	Lysinuric protein intolerance [RCV002183502]	likely benign	14	22773622	22773622	Human	1	name
152128877	CV1638953	single nucleotide variant	NM_003982.4(SLC7A7):c.1203T>G (p.Leu401=)	Lysinuric protein intolerance [RCV002155253]	likely benign	14	22774396	22774396	Human	1	name
152125624	CV1646208	single nucleotide variant	NM_003982.4(SLC7A7):c.1305A>G (p.Pro435=)	Lysinuric protein intolerance [RCV002217362]	likely benign	14	22774057	22774057	Human	1	name
153305787	CV1686600	single nucleotide variant	NM_003982.4(SLC7A7):c.179A>G (p.Lys60Arg)	Autoinflammatory syndrome [RCV002264511]	uncertain significance	14	22813220	22813220	Human	1	name
156000584	CV1872813	single nucleotide variant	NM_003982.4(SLC7A7):c.1392A>G (p.Pro464=)	Lysinuric protein intolerance [RCV003076564]	likely benign	14	22773970	22773970	Human	1	name
156067831	CV1883127	single nucleotide variant	NM_003982.4(SLC7A7):c.127G>A (p.Val43Met)	Lysinuric protein intolerance [RCV003079439]	uncertain significance	14	22813272	22813272	Human	1	name
156079095	CV1908825	single nucleotide variant	NM_003982.4(SLC7A7):c.181G>A (p.Gly61Ser)	Lysinuric protein intolerance [RCV002591517]	uncertain significance	14	22813218	22813218	Human	1	name
156441752	CV1941407	single nucleotide variant	NM_003982.4(SLC7A7):c.1137C>T (p.Phe379=)	Lysinuric protein intolerance [RCV003112084]	likely benign	14	22774462	22774462	Human	1	name
156415479	CV1958567	single nucleotide variant	NM_003982.4(SLC7A7):c.1047C>T (p.Cys349=)	Lysinuric protein intolerance [RCV002589191]	likely benign	14	22775492	22775492	Human	1	name
156304212	CV1965257	single nucleotide variant	NM_003982.4(SLC7A7):c.1443G>A (p.Arg481=)	Lysinuric protein intolerance [RCV002578370]	likely benign	14	22773703	22773703	Human	1	name
156355689	CV2005253	single nucleotide variant	NM_003982.4(SLC7A7):c.196A>G (p.Ser66Gly)	Lysinuric protein intolerance [RCV002675907]	uncertain significance	14	22813203	22813203	Human	1	name
156401618	CV2013426	single nucleotide variant	NM_003982.4(SLC7A7):c.1521T>C (p.Asp507=)	Lysinuric protein intolerance [RCV002726054]	likely benign	14	22773625	22773625	Human	1	name
155939662	CV2054846	single nucleotide variant	NM_003982.4(SLC7A7):c.1113C>A (p.Ile371=)	Lysinuric protein intolerance [RCV002815606]	likely benign	14	22774486	22774486	Human	1	name
156311805	CV2063466	single nucleotide variant	NM_003982.4(SLC7A7):c.1263G>C (p.Pro421=)	Lysinuric protein intolerance [RCV002834166]	uncertain significance	14	22774099	22774099	Human	1	name
155969190	CV2079109	single nucleotide variant	NM_003982.4(SLC7A7):c.1134C>A (p.Ile378=)	Lysinuric protein intolerance [RCV002881404]	likely benign	14	22774465	22774465	Human	1	name
156053455	CV2093608	single nucleotide variant	NM_003982.4(SLC7A7):c.1362G>A (p.Leu454=)	Lysinuric protein intolerance [RCV002867860]	likely benign	14	22774000	22774000	Human	1	name
8559182	CV21250	single nucleotide variant	NM_003982.4(SLC7A7):c.161G>T (p.Gly54Val)	Lysinuric protein intolerance [RCV000006589]	pathogenic\|uncertain significance	14	22813238	22813238	Human	1	name
155958832	CV2138170	single nucleotide variant	NM_003982.4(SLC7A7):c.1063C>A (p.Arg355=)	Lysinuric protein intolerance [RCV002972279]	likely benign	14	22775476	22775476	Human	1	name
156124193	CV2147393	single nucleotide variant	NM_003982.4(SLC7A7):c.248C>A (p.Ser83Tyr)	Lysinuric protein intolerance [RCV003021917]	uncertain significance	14	22813151	22813151	Human	1	name
155983655	CV2153671	single nucleotide variant	NM_003982.4(SLC7A7):c.1461T>C (p.Cys487=)	Lysinuric protein intolerance [RCV003016497]	likely benign	14	22773685	22773685	Human	1	name
156031650	CV2156469	single nucleotide variant	NM_003982.4(SLC7A7):c.1392A>C (p.Pro464=)	Lysinuric protein intolerance [RCV003018700]	likely benign	14	22773970	22773970	Human	1	name
156317034	CV2161497	single nucleotide variant	NM_003982.4(SLC7A7):c.1419A>T (p.Arg473=)	Lysinuric protein intolerance [RCV003046367]	likely benign	14	22773943	22773943	Human	1	name
156278890	CV2164576	single nucleotide variant	NM_003982.4(SLC7A7):c.1140G>A (p.Gln380=)	Lysinuric protein intolerance [RCV003027249]	likely benign	14	22774459	22774459	Human	1	name
156303450	CV2166735	single nucleotide variant	NM_003982.4(SLC7A7):c.1098T>C (p.Gly366=)	Lysinuric protein intolerance [RCV003045661]	likely benign	14	22774501	22774501	Human	1	name
156326937	CV2184436	duplication	NM_003982.4(SLC7A7):c.455dup (p.Ala153fs)	Lysinuric protein intolerance [RCV003046985]\|not provided [RCV003443107]	pathogenic\|likely pathogenic	14	22812943	22812944	Human	1	name
401902207	CV2804300	single nucleotide variant	NM_003982.4(SLC7A7):c.269A>C (p.Tyr90Ser)	SLC7A7-related disorder [RCV003418809]	uncertain significance	14	22813130	22813130	Human		name , trait , alternate_id
401949184	CV2836553	deletion	NM_003982.4(SLC7A7):c.573del (p.Val192fs)	Lysinuric protein intolerance [RCV003472951]	pathogenic\|likely pathogenic	14	22779978	22779978	Human	1	name
401949233	CV2836558	deletion	NM_003982.4(SLC7A7):c.669del (p.Phe223fs)	Lysinuric protein intolerance [RCV003474022]	likely pathogenic	14	22778894	22778894	Human	1	name
401949230	CV2836561	duplication	NM_003982.4(SLC7A7):c.446dup (p.Ser150fs)	Lysinuric protein intolerance [RCV003474025]	likely pathogenic	14	22812952	22812953	Human	1	name
401949229	CV2836562	deletion	NM_003982.4(SLC7A7):c.928del (p.Trp310fs)	Lysinuric protein intolerance [RCV003474026]	likely pathogenic	14	22775903	22775903	Human	1	name
402490049	CV2857052	single nucleotide variant	NM_003982.4(SLC7A7):c.1353C>G (p.Leu451=)	Lysinuric protein intolerance [RCV003507535]	likely benign	14	22774009	22774009	Human	1	name
402486156	CV2908899	single nucleotide variant	NM_003982.4(SLC7A7):c.1350C>A (p.Ala450=)	Lysinuric protein intolerance [RCV003507005]	likely benign	14	22774012	22774012	Human	1	name
402486563	CV2908990	single nucleotide variant	NM_003982.4(SLC7A7):c.1458G>A (p.Leu486=)	Lysinuric protein intolerance [RCV003507046]	likely benign	14	22773688	22773688	Human	1	name
402491580	CV2925000	single nucleotide variant	NM_003982.4(SLC7A7):c.1323C>T (p.Ile441=)	Lysinuric protein intolerance [RCV003507716]	likely benign	14	22774039	22774039	Human	1	name
402492203	CV2925516	single nucleotide variant	NM_003982.4(SLC7A7):c.1311C>T (p.Tyr437=)	Lysinuric protein intolerance [RCV003507758]	likely benign	14	22774051	22774051	Human	1	name
402494952	CV2930459	single nucleotide variant	NM_003982.4(SLC7A7):c.1086G>C (p.Leu362=)	Lysinuric protein intolerance [RCV003507986]	likely benign	14	22775453	22775453	Human	1	name
402492033	CV2931090	single nucleotide variant	NM_003982.4(SLC7A7):c.1089C>G (p.Leu363=)	Lysinuric protein intolerance [RCV003507740]	likely benign	14	22775450	22775450	Human	1	name
405116249	CV2989480	single nucleotide variant	NM_003982.4(SLC7A7):c.1107A>G (p.Ala369=)	Lysinuric protein intolerance [RCV003616448]	likely benign	14	22774492	22774492	Human	1	name
405116712	CV2991145	single nucleotide variant	NM_003982.4(SLC7A7):c.1389G>A (p.Val463=)	Lysinuric protein intolerance [RCV003616508]	likely benign	14	22773973	22773973	Human	1	name
405120196	CV3023433	single nucleotide variant	NM_003982.4(SLC7A7):c.1200G>A (p.Gln400=)	Lysinuric protein intolerance [RCV003616948]	likely benign	14	22774399	22774399	Human	1	name
405119701	CV3028715	deletion	NM_003982.4(SLC7A7):c.616del (p.Gly207fs)	Lysinuric protein intolerance [RCV003616886]	pathogenic	14	22779935	22779935	Human	1	name
405122936	CV3057563	single nucleotide variant	NM_003982.4(SLC7A7):c.1206T>C (p.Tyr402=)	Lysinuric protein intolerance [RCV003617291]	likely benign	14	22774393	22774393	Human	1	name
405122868	CV3060294	single nucleotide variant	NM_003982.4(SLC7A7):c.1224T>G (p.Pro408=)	Lysinuric protein intolerance [RCV003617283]	likely benign	14	22774375	22774375	Human	1	name
405111984	CV3071411	single nucleotide variant	NM_003982.4(SLC7A7):c.154G>A (p.Gly52Ser)	Lysinuric protein intolerance [RCV003615707]	uncertain significance	14	22813245	22813245	Human	1	name
405112409	CV3080589	single nucleotide variant	NM_003982.4(SLC7A7):c.1341T>C (p.Ile447=)	Lysinuric protein intolerance [RCV003615778]	likely benign	14	22774021	22774021	Human	1	name
402484794	CV3171268	single nucleotide variant	NM_003982.4(SLC7A7):c.1533C>T (p.Asn511=)	Lysinuric protein intolerance [RCV003876295]	likely benign	14	22773613	22773613	Human	1	name
404989592	CV3179916	single nucleotide variant	NM_003982.4(SLC7A7):c.1332C>T (p.Leu444=)	Lysinuric protein intolerance [RCV003881394]	likely benign	14	22774030	22774030	Human	1	name
405263272	CV3189436	single nucleotide variant	NM_003982.4(SLC7A7):c.239G>A (p.Gly80Asp)	SLC7A7-related disorder [RCV003896670]	uncertain significance	14	22813160	22813160	Human		name , trait , alternate_id
405273366	CV3197780	single nucleotide variant	NM_003982.4(SLC7A7):c.1320T>A (p.Thr440=)	SLC7A7-related disorder [RCV003901746]	likely benign	14	22774042	22774042	Human		name , trait , alternate_id
11614635	CV335504	single nucleotide variant	NM_003982.4(SLC7A7):c.1494T>C (p.Asp498=)	Lysinuric protein intolerance [RCV000278758]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	22773652	22773652	Human	1	name
11622519	CV337396	single nucleotide variant	NM_003982.4(SLC7A7):c.1119G>A (p.Leu373=)	Lysinuric protein intolerance [RCV000361440]\|not provided [RCV003422259]\|not specified [RCV000616460]	benign\|likely benign	14	22774480	22774480	Human	1	name
407427392	CV3410647	single nucleotide variant	NM_003982.4(SLC7A7):c.235G>A (p.Gly79Arg)	Lysinuric protein intolerance [RCV005006449]\|not specified [RCV004586294]	likely pathogenic\|uncertain significance	14	22813164	22813164	Human	1	name
407457467	CV3416167	single nucleotide variant	NM_003982.4(SLC7A7):c.1242C>T (p.Leu414=)	not provided [RCV004599045]	likely benign	14	22774357	22774357	Human		name
597656380	CV3552297	deletion	NM_003982.4(SLC7A7):c.647del (p.Asn216fs)	Lysinuric protein intolerance [RCV004821155]	likely pathogenic	14	22778916	22778916	Human	1	name
597627485	CV3606773	single nucleotide variant	NM_003982.4(SLC7A7):c.236G>A (p.Gly79Glu)	Inborn genetic diseases [RCV004966499]	uncertain significance	14	22813163	22813163	Human	1	name
597675915	CV3710722	single nucleotide variant	NM_003982.4(SLC7A7):c.1293G>A (p.Leu431=)	Lysinuric protein intolerance [RCV005005610]	uncertain significance	14	22774069	22774069	Human	1	name
597688671	CV3710740	duplication	NM_003982.4(SLC7A7):c.595dup (p.Ile199fs)	Lysinuric protein intolerance [RCV005007155]	likely pathogenic	14	22779955	22779956	Human	1	name
597688734	CV3710746	deletion	NM_003982.4(SLC7A7):c.322del (p.Leu108fs)	Lysinuric protein intolerance [RCV005007161]	likely pathogenic	14	22813077	22813077	Human	1	name
597688746	CV3710747	single nucleotide variant	NM_003982.4(SLC7A7):c.283A>C (p.Thr95Pro)	Lysinuric protein intolerance [RCV005007162]	uncertain significance	14	22813116	22813116	Human	1	name
597688766	CV3710749	single nucleotide variant	NM_003982.4(SLC7A7):c.191T>A (p.Ile64Lys)	Lysinuric protein intolerance [RCV005007164]	uncertain significance	14	22813208	22813208	Human	1	name
12841771	CV372998	single nucleotide variant	NM_003982.4(SLC7A7):c.1230A>G (p.Arg410=)	not specified [RCV000433162]	likely benign	14	22774369	22774369	Human		name
12836886	CV373723	single nucleotide variant	NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val)	Autoinflammatory syndrome [RCV002263681]\|Lysinuric protein intolerance [RCV000553552]\|not provided [RCV001729587]\|not specified [RCV000424204]	benign\|likely benign	14	22813127	22813127	Human	4	name
12836886	CV373723	single nucleotide variant	NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val)	Autoinflammatory syndrome [RCV002263681]\|Lysinuric protein intolerance [RCV000553552]\|not provided [RCV001729587]\|not specified [RCV000424204]	benign\|likely benign	14	22813127	22813128	Human	4	name
597948366	CV3759150	deletion	NM_003982.4(SLC7A7):c.534del (p.Lys178fs)	Lysinuric protein intolerance [RCV005078947]	pathogenic	14	22780017	22780017	Human	1	name
12838370	CV375936	single nucleotide variant	NM_003982.4(SLC7A7):c.1281C>T (p.Cys427=)	Lysinuric protein intolerance [RCV001407791]\|not specified [RCV000426837]	likely benign	14	22774081	22774081	Human	1	name
597835105	CV3770068	deletion	NM_003982.4(SLC7A7):c.635del (p.Thr212fs)	Lysinuric protein intolerance [RCV005105920]	pathogenic	14	22778928	22778928	Human	1	name
597878344	CV3804055	single nucleotide variant	NM_003982.4(SLC7A7):c.1326C>T (p.Asn442=)	Lysinuric protein intolerance [RCV005153601]	likely benign	14	22774036	22774036	Human	1	name
597893230	CV3820544	single nucleotide variant	NM_003982.4(SLC7A7):c.1341T>A (p.Ile447=)	Lysinuric protein intolerance [RCV005168061]	likely benign	14	22774021	22774021	Human	1	name
597898163	CV3828003	single nucleotide variant	NM_003982.4(SLC7A7):c.1260C>T (p.Phe420=)	Lysinuric protein intolerance [RCV005173078]	uncertain significance	14	22774102	22774102	Human	1	name
597904087	CV3834975	duplication	NM_003982.4(SLC7A7):c.750dup (p.Glu251fs)	Lysinuric protein intolerance [RCV005178699]	pathogenic	14	22778812	22778813	Human	1	name
597929461	CV3850542	single nucleotide variant	NM_003982.4(SLC7A7):c.1419A>G (p.Arg473=)	Lysinuric protein intolerance [RCV005203691]	likely benign	14	22773943	22773943	Human	1	name
598125029	CV3885541	single nucleotide variant	NM_003982.4(SLC7A7):c.257G>A (p.Gly86Glu)	not specified [RCV005240119]	uncertain significance	14	22813142	22813142	Human		name
13497470	CV463118	single nucleotide variant	NM_003982.4(SLC7A7):c.250G>A (p.Val84Ile)	Lysinuric protein intolerance [RCV000538633]\|not provided [RCV001764548]	uncertain significance	14	22813149	22813149	Human	1	name
13541659	CV504675	single nucleotide variant	NM_003982.4(SLC7A7):c.1425C>T (p.Ile475=)	Lysinuric protein intolerance [RCV000973787]\|not specified [RCV000616464]	likely benign	14	22773937	22773937	Human	1	name
13538051	CV504677	single nucleotide variant	NM_003982.4(SLC7A7):c.1122C>T (p.Cys374=)	Lysinuric protein intolerance [RCV001471041]\|not specified [RCV000611274]	likely benign	14	22774477	22774477	Human	1	name
13530231	CV505356	single nucleotide variant	NM_003982.4(SLC7A7):c.1362G>C (p.Leu454=)	Lysinuric protein intolerance [RCV001405499]\|not specified [RCV000606048]	likely benign	14	22774000	22774000	Human	1	name
13817575	CV568747	single nucleotide variant	NM_003982.4(SLC7A7):c.149T>C (p.Met50Thr)	Lysinuric protein intolerance [RCV000707106]	uncertain significance	14	22813250	22813250	Human	1	name
13813502	CV572743	single nucleotide variant	NM_003982.4(SLC7A7):c.297A>C (p.Lys99Asn)	Inborn genetic diseases [RCV005278635]\|Lysinuric protein intolerance [RCV000690202]	uncertain significance	14	22813102	22813102	Human	2	name
14735720	CV642195	single nucleotide variant	NM_003982.4(SLC7A7):c.286A>G (p.Thr96Ala)	Lysinuric protein intolerance [RCV000819709]	uncertain significance	14	22813113	22813113	Human	1	name
8617095	CV71002	single nucleotide variant	NM_003982.4(SLC7A7):c.149T>A (p.Met50Lys)	Lysinuric protein intolerance [RCV000049776]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	14	22813250	22813250	Human	1	name
8617102	CV71009	duplication	NM_003982.4(SLC7A7):c.545dup (p.Val183fs)	Lysinuric protein intolerance [RCV000049783]	pathogenic\|likely pathogenic	14	22780005	22780006	Human	1	name
8617111	CV71018	duplication	NM_003982.4(SLC7A7):c.820dup (p.Tyr274fs)	Lysinuric protein intolerance [RCV000049792]	likely pathogenic	14	22776268	22776269	Human	1	name
15171025	CV739166	single nucleotide variant	NM_003982.4(SLC7A7):c.1125G>C (p.Val375=)	Lysinuric protein intolerance [RCV001272424]	likely benign\|uncertain significance	14	22774474	22774474	Human	1	name
15163062	CV753976	single nucleotide variant	NM_003982.4(SLC7A7):c.1431G>A (p.Gly477=)	Lysinuric protein intolerance [RCV000926035]\|SLC7A7-related disorder [RCV003903060]	likely benign	14	22773715	22773715	Human	1	name , trait , alternate_id
15193686	CV753977	single nucleotide variant	NM_003982.4(SLC7A7):c.1335C>T (p.Ile445=)	Lysinuric protein intolerance [RCV001480928]	likely benign	14	22774027	22774027	Human	1	name
15191479	CV769723	single nucleotide variant	NM_003982.4(SLC7A7):c.1360C>T (p.Leu454=)	Lysinuric protein intolerance [RCV001414509]	likely benign	14	22774002	22774002	Human	1	name
15145565	CV769724	single nucleotide variant	NM_003982.4(SLC7A7):c.1359C>G (p.Gly453=)	Lysinuric protein intolerance [RCV001482868]	likely benign	14	22774003	22774003	Human	1	name
15191419	CV769725	single nucleotide variant	NM_003982.4(SLC7A7):c.1083T>C (p.Ser361=)	Lysinuric protein intolerance [RCV000932796]	likely benign	14	22775456	22775456	Human	1	name
15125272	CV784671	single nucleotide variant	NM_003982.4(SLC7A7):c.1407G>A (p.Pro469=)	Lysinuric protein intolerance [RCV000980171]	likely benign	14	22773955	22773955	Human	1	name
15114714	CV784672	single nucleotide variant	NM_003982.4(SLC7A7):c.1266T>C (p.Ile422=)	Lysinuric protein intolerance [RCV001487655]	likely benign	14	22774096	22774096	Human	1	name
15101644	CV784673	single nucleotide variant	NM_003982.4(SLC7A7):c.1263G>A (p.Pro421=)	Lysinuric protein intolerance [RCV000975630]	likely benign\|conflicting interpretations of pathogenicity	14	22774099	22774099	Human	1	name
15112944	CV784674	single nucleotide variant	NM_003982.4(SLC7A7):c.1134C>T (p.Ile378=)	Lysinuric protein intolerance [RCV001404714]	likely benign	14	22774465	22774465	Human	1	name
15099744	CV784675	single nucleotide variant	NM_003982.4(SLC7A7):c.1117T>C (p.Leu373=)	Lysinuric protein intolerance [RCV001432856]	likely benign	14	22774482	22774482	Human	1	name
38483830	CV936552	single nucleotide variant	NM_003982.4(SLC7A7):c.269A>T (p.Tyr90Phe)	Lysinuric protein intolerance [RCV001207796]	uncertain significance	14	22813130	22813130	Human	1	name
38474277	CV948480	deletion	NM_003982.4(SLC7A7):c.516del (p.Asn173fs)	Lysinuric protein intolerance [RCV001232143]	pathogenic\|likely pathogenic	14	22780035	22780035	Human	1	name
38486666	CV948481	single nucleotide variant	NM_003982.4(SLC7A7):c.187C>T (p.Leu63Phe)	Lysinuric protein intolerance [RCV001237260]	uncertain significance	14	22813212	22813212	Human	1	name
38458712	CV957175	single nucleotide variant	NM_003982.4(SLC7A7):c.272C>A (p.Ala91Glu)	Lysinuric protein intolerance [RCV001246399]	uncertain significance	14	22813127	22813127	Human	1	name
38492552	CV957176	single nucleotide variant	NM_003982.4(SLC7A7):c.241C>T (p.Leu81Phe)	Inborn genetic diseases [RCV003166498]\|Lysinuric protein intolerance [RCV001240152]	uncertain significance	14	22813158	22813158	Human	2	name
38496774	CV957177	single nucleotide variant	NM_003982.4(SLC7A7):c.208G>C (p.Gly70Arg)	Lysinuric protein intolerance [RCV001242773]	uncertain significance	14	22813191	22813191	Human	1	name
40906324	CV979468	single nucleotide variant	NM_003982.4(SLC7A7):c.1497A>C (p.Gly499=)	Lysinuric protein intolerance [RCV001279685]	likely benign\|uncertain significance	14	22773649	22773649	Human	1	name
40906326	CV979470	single nucleotide variant	NM_003982.4(SLC7A7):c.1056T>C (p.His352=)	Lysinuric protein intolerance [RCV001279687]	uncertain significance	14	22775483	22775483	Human	1	name
126753984	CV1010996	single nucleotide variant	NM_003982.4(SLC7A7):c.956C>T (p.Ser319Phe)	Lysinuric protein intolerance [RCV001327406]	uncertain significance	14	22775875	22775875	Human	1	name
126744488	CV1010997	single nucleotide variant	NM_003982.4(SLC7A7):c.781C>T (p.Leu261Phe)	Lysinuric protein intolerance [RCV001314946]	uncertain significance	14	22776308	22776308	Human	1	name
126757259	CV1010998	single nucleotide variant	NM_003982.4(SLC7A7):c.380T>C (p.Ile127Thr)	Inborn genetic diseases [RCV002543726]\|Lysinuric protein intolerance [RCV001317434]	uncertain significance	14	22813019	22813019	Human	2	name
126748396	CV1031494	single nucleotide variant	NM_003982.4(SLC7A7):c.740A>G (p.Tyr247Cys)	Lysinuric protein intolerance [RCV001351854]	uncertain significance	14	22778823	22778823	Human	1	name
126909285	CV1048464	single nucleotide variant	NM_003982.4(SLC7A7):c.589G>A (p.Ala197Thr)	Inborn genetic diseases [RCV002547888]\|Lysinuric protein intolerance [RCV001368366]	uncertain significance	14	22779962	22779962	Human	2	name
126920938	CV1048465	single nucleotide variant	NM_003982.4(SLC7A7):c.437C>T (p.Pro146Leu)	Lysinuric protein intolerance [RCV001374103]	uncertain significance	14	22812962	22812962	Human	1	name
127237201	CV1063072	single nucleotide variant	NM_003982.4(SLC7A7):c.766G>T (p.Glu256Ter)	Lysinuric protein intolerance [RCV001382771]	pathogenic\|likely pathogenic	14	22778797	22778797	Human	1	name
150516133	CV1216452	deletion	NM_003982.4(SLC7A7):c.1095+181_1095+185del	not provided [RCV001608643]	benign	14	22775259	22775263	Human		name
150494121	CV1226097	deletion	NM_003982.4(SLC7A7):c.1095+211_1095+215del	not provided [RCV001619315]	benign	14	22775229	22775233	Human		name
151811546	CV1350551	single nucleotide variant	NM_003982.4(SLC7A7):c.632C>G (p.Ser211Cys)	Lysinuric protein intolerance [RCV002048902]	uncertain significance	14	22778931	22778931	Human	1	name
151825430	CV1350680	single nucleotide variant	NM_003982.4(SLC7A7):c.911T>A (p.Ile304Lys)	Lysinuric protein intolerance [RCV001901283]	uncertain significance	14	22775920	22775920	Human	1	name
151714041	CV1379693	single nucleotide variant	NM_003982.4(SLC7A7):c.308G>A (p.Ser103Asn)	Lysinuric protein intolerance [RCV001964868]	uncertain significance	14	22813091	22813091	Human	1	name
151759223	CV1391855	single nucleotide variant	NM_003982.4(SLC7A7):c.883G>C (p.Ala295Pro)	Lysinuric protein intolerance [RCV002044078]	uncertain significance	14	22776206	22776206	Human	1	name
151711001	CV1394893	single nucleotide variant	NM_003982.4(SLC7A7):c.704C>T (p.Ala235Val)	Lysinuric protein intolerance [RCV001964292]	uncertain significance	14	22778859	22778859	Human	1	name
151881260	CV1406123	single nucleotide variant	NM_003982.4(SLC7A7):c.857A>G (p.Asp286Gly)	Lysinuric protein intolerance [RCV001941074]	uncertain significance	14	22776232	22776232	Human	1	name
151752739	CV1407198	single nucleotide variant	NM_003982.4(SLC7A7):c.746C>T (p.Thr249Ile)	Lysinuric protein intolerance [RCV002023556]	uncertain significance	14	22778817	22778817	Human	1	name
151769300	CV1411299	single nucleotide variant	NM_003982.4(SLC7A7):c.841T>C (p.Tyr281His)	Lysinuric protein intolerance [RCV002045087]	uncertain significance	14	22776248	22776248	Human	1	name
151867025	CV1447600	single nucleotide variant	NM_003982.4(SLC7A7):c.930G>A (p.Trp310Ter)	Lysinuric protein intolerance [RCV001924731]	pathogenic\|likely pathogenic	14	22775901	22775901	Human	1	name
151719937	CV1481190	single nucleotide variant	NM_003982.4(SLC7A7):c.465T>G (p.Tyr155Ter)	Lysinuric protein intolerance [RCV001982912]	pathogenic	14	22812934	22812934	Human	1	name
151859326	CV1484668	deletion	NM_003982.4(SLC7A7):c.1400del (p.Lys467fs)	Lysinuric protein intolerance [RCV001959016]	pathogenic	14	22773962	22773962	Human	1	name
151838605	CV1487432	single nucleotide variant	NM_003982.4(SLC7A7):c.554A>G (p.Asp185Gly)	Lysinuric protein intolerance [RCV001935835]	uncertain significance	14	22779997	22779997	Human	1	name
151738842	CV1492238	single nucleotide variant	NM_003982.4(SLC7A7):c.460C>T (p.Pro154Ser)	Inborn genetic diseases [RCV002545683]\|Lysinuric protein intolerance [RCV002042026]	uncertain significance	14	22812939	22812939	Human	2	name
151833959	CV1493338	single nucleotide variant	NM_003982.4(SLC7A7):c.548T>C (p.Val183Ala)	Lysinuric protein intolerance [RCV001935339]	uncertain significance	14	22780003	22780003	Human	1	name
151795014	CV1514770	single nucleotide variant	NM_003982.4(SLC7A7):c.442T>C (p.Phe148Leu)	Lysinuric protein intolerance [RCV002011046]	uncertain significance	14	22812957	22812957	Human	1	name
151756813	CV1517234	single nucleotide variant	NM_003982.4(SLC7A7):c.349T>G (p.Phe117Val)	Lysinuric protein intolerance [RCV002043826]	uncertain significance	14	22813050	22813050	Human	1	name
155266335	CV1699779	single nucleotide variant	NM_003982.4(SLC7A7):c.737A>G (p.Asn246Ser)	Lysinuric protein intolerance [RCV003096369]\|not specified [RCV002281881]	uncertain significance	14	22778826	22778826	Human	1	name
156217687	CV1869459	single nucleotide variant	NM_003982.4(SLC7A7):c.779C>T (p.Pro260Leu)	Lysinuric protein intolerance [RCV003058796]	uncertain significance	14	22776310	22776310	Human	1	name
156261108	CV1872410	single nucleotide variant	NM_003982.4(SLC7A7):c.605G>A (p.Gly202Asp)	Lysinuric protein intolerance [RCV003060361]	uncertain significance	14	22779946	22779946	Human	1	name
156358222	CV1873828	single nucleotide variant	NM_003982.4(SLC7A7):c.472A>G (p.Ser158Gly)	Lysinuric protein intolerance [RCV003065418]	uncertain significance	14	22812927	22812927	Human	1	name
156360579	CV1874161	single nucleotide variant	NM_003982.4(SLC7A7):c.854T>C (p.Leu285Pro)	Lysinuric protein intolerance [RCV003065585]	uncertain significance	14	22776235	22776235	Human	1	name
156313776	CV1874671	duplication	NM_003982.4(SLC7A7):c.1098dup (p.Ile367fs)	Lysinuric protein intolerance [RCV003062615]	pathogenic	14	22774500	22774501	Human	1	name
156013469	CV1880698	single nucleotide variant	NM_003982.4(SLC7A7):c.833A>T (p.Asn278Ile)	Lysinuric protein intolerance [RCV003077226]	uncertain significance	14	22776256	22776256	Human	1	name
156114078	CV1880837	single nucleotide variant	NM_003982.4(SLC7A7):c.580G>A (p.Ala194Thr)	Lysinuric protein intolerance [RCV003081165]	uncertain significance	14	22779971	22779971	Human	1	name
156042252	CV1887203	single nucleotide variant	NM_003982.4(SLC7A7):c.683T>C (p.Ile228Thr)	Lysinuric protein intolerance [RCV003078561]\|not provided [RCV004775291]	uncertain significance	14	22778880	22778880	Human	1	name
156024124	CV1895934	single nucleotide variant	NM_003982.4(SLC7A7):c.805A>G (p.Ile269Val)	Inborn genetic diseases [RCV003100343]\|Lysinuric protein intolerance [RCV003100344]	uncertain significance	14	22776284	22776284	Human	2	name
156354863	CV1921025	single nucleotide variant	NM_003982.4(SLC7A7):c.844T>C (p.Tyr282His)	Lysinuric protein intolerance [RCV002632251]	uncertain significance	14	22776245	22776245	Human	1	name
156176500	CV1927693	single nucleotide variant	NM_003982.4(SLC7A7):c.928T>A (p.Trp310Arg)	Lysinuric protein intolerance [RCV002624893]\|not provided [RCV004790395]	uncertain significance	14	22775903	22775903	Human	1	name
156034019	CV1932565	single nucleotide variant	NM_003982.4(SLC7A7):c.422A>G (p.Asn141Ser)	Inborn genetic diseases [RCV004673820]\|Lysinuric protein intolerance [RCV002637290]	uncertain significance	14	22812977	22812977	Human	2	name
156152774	CV1934501	single nucleotide variant	NM_003982.4(SLC7A7):c.598G>A (p.Val200Ile)	Lysinuric protein intolerance [RCV002663951]	uncertain significance	14	22779953	22779953	Human	1	name
10058915	CV200280	single nucleotide variant	NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys)	Autoinflammatory syndrome [RCV002262777]\|Inborn genetic diseases [RCV004020257]\|Lysinuric protein intolerance [RCV000279372]\|not provided [RCV000186169]\|not specified [RCV001778777]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	14	22812924	22812924	Human	3	name
156400153	CV2013253	single nucleotide variant	NM_003982.4(SLC7A7):c.428T>C (p.Met143Thr)	Lysinuric protein intolerance [RCV002725927]	uncertain significance	14	22812971	22812971	Human	1	name
156002422	CV2014817	single nucleotide variant	NM_003982.4(SLC7A7):c.656A>T (p.Glu219Val)	Lysinuric protein intolerance [RCV002690119]	uncertain significance	14	22778907	22778907	Human	1	name
156023466	CV2040834	single nucleotide variant	NM_003982.4(SLC7A7):c.974A>G (p.Asn325Ser)	Lysinuric protein intolerance [RCV002795696]	uncertain significance	14	22775857	22775857	Human	1	name
156111182	CV2042650	single nucleotide variant	NM_003982.4(SLC7A7):c.421A>T (p.Asn141Tyr)	Lysinuric protein intolerance [RCV002785405]	uncertain significance	14	22812978	22812978	Human	1	name
155950850	CV2084465	single nucleotide variant	NM_003982.4(SLC7A7):c.501T>A (p.Cys167Ter)	Lysinuric protein intolerance [RCV002880492]	pathogenic	14	22780050	22780050	Human	1	name
156003209	CV2103459	single nucleotide variant	NM_003982.4(SLC7A7):c.886G>A (p.Val296Ile)	Lysinuric protein intolerance [RCV002908733]	uncertain significance	14	22776203	22776203	Human	1	name
156023241	CV2115934	single nucleotide variant	NM_003982.4(SLC7A7):c.861G>A (p.Met287Ile)	Lysinuric protein intolerance [RCV002909714]	uncertain significance	14	22776228	22776228	Human	1	name
8559185	CV21253	single nucleotide variant	NM_003982.4(SLC7A7):c.726G>A (p.Trp242Ter)	Autoinflammatory syndrome [RCV002262560]\|Lysinuric protein intolerance [RCV000006592]\|not provided [RCV001723545]	pathogenic	14	22778837	22778837	Human	2	name
156223130	CV2144306	single nucleotide variant	NM_003982.4(SLC7A7):c.500G>C (p.Cys167Ser)	Lysinuric protein intolerance [RCV003007460]	uncertain significance	14	22780051	22780051	Human	1	name
155975276	CV2149027	single nucleotide variant	NM_003982.4(SLC7A7):c.394C>T (p.Gln132Ter)	Lysinuric protein intolerance [RCV003016125]	pathogenic	14	22813005	22813005	Human	1	name
155996818	CV2152787	single nucleotide variant	NM_003982.4(SLC7A7):c.430G>C (p.Val144Leu)	Lysinuric protein intolerance [RCV002996827]	uncertain significance	14	22812969	22812969	Human	1	name
156290814	CV2226235	single nucleotide variant	NM_003982.4(SLC7A7):c.430G>A (p.Val144Ile)	Inborn genetic diseases [RCV002747761]	uncertain significance	14	22812969	22812969	Human	1	name
155916755	CV2239831	single nucleotide variant	NM_003982.4(SLC7A7):c.833A>G (p.Asn278Ser)	Inborn genetic diseases [RCV002772407]	uncertain significance	14	22776256	22776256	Human	1	name
156250741	CV2286748	single nucleotide variant	NM_003982.4(SLC7A7):c.566A>G (p.Tyr189Cys)	Inborn genetic diseases [RCV002854818]	uncertain significance	14	22779985	22779985	Human	1	name
156293809	CV2293109	single nucleotide variant	NM_003982.4(SLC7A7):c.914T>C (p.Phe305Ser)	Inborn genetic diseases [RCV002879084]	uncertain significance	14	22775917	22775917	Human	1	name
243060715	CV2408693	single nucleotide variant	NM_003982.4(SLC7A7):c.406G>A (p.Ala136Thr)	Lysinuric protein intolerance [RCV003136823]	uncertain significance	14	22812993	22812993	Human	1	name
329351447	CV2478069	single nucleotide variant	NM_003982.4(SLC7A7):c.460C>G (p.Pro154Ala)	Lysinuric protein intolerance [RCV003224735]	uncertain significance	14	22812939	22812939	Human	1	name
401921332	CV2804545	single nucleotide variant	NM_003982.4(SLC7A7):c.802C>A (p.Pro268Thr)	SLC7A7-related disorder [RCV003402918]	uncertain significance	14	22776287	22776287	Human		name , trait , alternate_id
402505112	CV3181527	single nucleotide variant	NM_003982.4(SLC7A7):c.537G>A (p.Trp179Ter)	Lysinuric protein intolerance [RCV003878361]	pathogenic	14	22780014	22780014	Human	1	name
405704804	CV3225147	single nucleotide variant	NM_003982.4(SLC7A7):c.305C>T (p.Ala102Val)	Lysinuric protein intolerance [RCV003990103]	likely pathogenic	14	22813094	22813094	Human	1	name
11616431	CV328917	single nucleotide variant	NM_003982.4(SLC7A7):c.595A>G (p.Ile199Val)	Lysinuric protein intolerance [RCV000294480]	uncertain significance	14	22779956	22779956	Human	1	name
11613926	CV335517	single nucleotide variant	NM_003982.4(SLC7A7):c.931A>G (p.Ile311Val)	Autoinflammatory syndrome [RCV002262978]\|Lysinuric protein intolerance [RCV000272643]\|not specified [RCV005238884]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	22775900	22775900	Human	2	name
11622797	CV337409	single nucleotide variant	NM_003982.4(SLC7A7):c.954A>T (p.Leu318Phe)	Lysinuric protein intolerance [RCV000364794]\|not provided [RCV004719796]	uncertain significance	14	22775877	22775877	Human	1	name
11623359	CV337412	single nucleotide variant	NM_003982.4(SLC7A7):c.487G>T (p.Ala163Ser)	Lysinuric protein intolerance [RCV000371640]	uncertain significance	14	22812912	22812912	Human	1	name
407425196	CV3411158	single nucleotide variant	NM_003982.4(SLC7A7):c.496A>G (p.Ile166Val)	not provided [RCV004588849]	uncertain significance	14	22812903	22812903	Human		name
596920578	CV3534052	single nucleotide variant	NM_003982.4(SLC7A7):c.359T>A (p.Leu120His)	not specified [RCV004783270]	uncertain significance	14	22813040	22813040	Human		name
597627475	CV3606770	single nucleotide variant	NM_003982.4(SLC7A7):c.527A>G (p.Tyr176Cys)	Inborn genetic diseases [RCV004966496]	uncertain significance	14	22780024	22780024	Human	1	name
597627479	CV3606771	single nucleotide variant	NM_003982.4(SLC7A7):c.657G>C (p.Glu219Asp)	Inborn genetic diseases [RCV004966497]	uncertain significance	14	22778906	22778906	Human	1	name
597688500	CV3710725	deletion	NM_003982.4(SLC7A7):c.1196del (p.Gly399fs)	Lysinuric protein intolerance [RCV005007139]	likely pathogenic	14	22774403	22774403	Human	1	name
597688575	CV3710731	single nucleotide variant	NM_003982.4(SLC7A7):c.953T>C (p.Leu318Ser)	Lysinuric protein intolerance [RCV005007146]	uncertain significance	14	22775878	22775878	Human	1	name
597688598	CV3710733	single nucleotide variant	NM_003982.4(SLC7A7):c.821A>G (p.Tyr274Cys)	Lysinuric protein intolerance [RCV005007148]	uncertain significance	14	22776268	22776268	Human	1	name
597688606	CV3710734	single nucleotide variant	NM_003982.4(SLC7A7):c.806T>C (p.Ile269Thr)	Lysinuric protein intolerance [RCV005007149]	uncertain significance	14	22776283	22776283	Human	1	name
597688615	CV3710735	single nucleotide variant	NM_003982.4(SLC7A7):c.764C>T (p.Pro255Leu)	Lysinuric protein intolerance [RCV005007150]	uncertain significance	14	22778799	22778799	Human	1	name
597688636	CV3710737	single nucleotide variant	NM_003982.4(SLC7A7):c.662C>T (p.Ser221Leu)	Lysinuric protein intolerance [RCV005007152]	uncertain significance	14	22778901	22778901	Human	1	name
597688648	CV3710738	single nucleotide variant	NM_003982.4(SLC7A7):c.661T>A (p.Ser221Thr)	Lysinuric protein intolerance [RCV005007153]	uncertain significance	14	22778902	22778902	Human	1	name
597688658	CV3710739	single nucleotide variant	NM_003982.4(SLC7A7):c.656A>G (p.Glu219Gly)	Lysinuric protein intolerance [RCV005007154]	uncertain significance	14	22778907	22778907	Human	1	name
597688689	CV3710741	single nucleotide variant	NM_003982.4(SLC7A7):c.542C>A (p.Thr181Asn)	Lysinuric protein intolerance [RCV005007157]	uncertain significance	14	22780009	22780009	Human	1	name
597688703	CV3710742	single nucleotide variant	NM_003982.4(SLC7A7):c.535T>C (p.Trp179Arg)	Lysinuric protein intolerance [RCV005007158]	uncertain significance	14	22780016	22780016	Human	1	name
597688713	CV3710743	single nucleotide variant	NM_003982.4(SLC7A7):c.407C>G (p.Ala136Gly)	Lysinuric protein intolerance [RCV005007159]	uncertain significance	14	22812992	22812992	Human	1	name
597688724	CV3710744	single nucleotide variant	NM_003982.4(SLC7A7):c.333T>G (p.Phe111Leu)	Lysinuric protein intolerance [RCV005007160]	uncertain significance	14	22813066	22813066	Human	1	name
597920682	CV3850146	single nucleotide variant	NM_003982.4(SLC7A7):c.911T>C (p.Ile304Thr)	Lysinuric protein intolerance [RCV005195479]	uncertain significance	14	22775920	22775920	Human	1	name
598260236	CV3922045	single nucleotide variant	NM_003982.4(SLC7A7):c.524C>G (p.Ala175Gly)	Inborn genetic diseases [RCV005279744]	uncertain significance	14	22780027	22780027	Human	1	name
598260240	CV3922046	single nucleotide variant	NM_003982.4(SLC7A7):c.932T>C (p.Ile311Thr)	Inborn genetic diseases [RCV005279745]	likely benign	14	22775899	22775899	Human	1	name
598260243	CV3922047	single nucleotide variant	NM_003982.4(SLC7A7):c.921A>G (p.Ile307Met)	Inborn genetic diseases [RCV005279746]	uncertain significance	14	22775910	22775910	Human	1	name
13487758	CV445191	single nucleotide variant	NM_003982.4(SLC7A7):c.476G>A (p.Arg159His)	Inborn genetic diseases [RCV004678732]\|Lysinuric protein intolerance [RCV001829529]\|not provided [RCV000523336]	uncertain significance	14	22812923	22812923	Human	2	name
13618408	CV527966	single nucleotide variant	NM_003982.4(SLC7A7):c.916G>C (p.Gly306Arg)	Inborn genetic diseases [RCV005278618]\|Lysinuric protein intolerance [RCV000634957]\|SLC7A7-related disorder [RCV003403459]	uncertain significance	14	22775915	22775915	Human	2	name , trait , alternate_id
13810206	CV566296	deletion	NM_003982.4(SLC7A7):c.1395del (p.Glu465fs)	Lysinuric protein intolerance [RCV000702454]	pathogenic\|likely pathogenic	14	22773967	22773967	Human	1	name
13816606	CV566316	single nucleotide variant	NM_003982.4(SLC7A7):c.313G>A (p.Ala105Thr)	Lysinuric protein intolerance [RCV000706503]	uncertain significance	14	22813086	22813086	Human	1	name
13832049	CV582542	single nucleotide variant	NM_003982.4(SLC7A7):c.434A>G (p.Gln145Arg)	Lysinuric protein intolerance [RCV005010730]\|not provided [RCV000722732]	uncertain significance	14	22812965	22812965	Human	1	name
14725594	CV642194	single nucleotide variant	NM_003982.4(SLC7A7):c.748G>A (p.Glu250Lys)	Lysinuric protein intolerance [RCV000798889]	uncertain significance	14	22778815	22778815	Human	1	name
14730964	CV652583	indel	NM_003982.4(SLC7A7):c.895-2_895delinsCCATT	Lysinuric protein intolerance [RCV000801183]	pathogenic	14	22775936	22775938	Human		name
14719362	CV667287	deletion	NM_003982.4(SLC7A7):c.1095+188_1095+198del	not provided [RCV000830740]	benign	14	22775246	22775256	Human		name
8617076	CV70983	single nucleotide variant	NM_001126105.2(SLC7A7):c.14C>T (p.Thr5Ile)	Lysinuric protein intolerance [RCV000049757]	likely pathogenic	14	22813385	22813385	Human	1	name
8617085	CV70992	deletion	NM_003982.4(SLC7A7):c.1262del (p.Pro421fs)	Lysinuric protein intolerance [RCV000049766]	likely pathogenic	14	22774100	22774100	Human	1	name
8617087	CV70994	deletion	NM_003982.4(SLC7A7):c.1344del (p.Ile449fs)	Lysinuric protein intolerance [RCV000049768]	likely pathogenic	14	22774018	22774018	Human	1	name
8617090	CV70997	deletion	NM_003982.4(SLC7A7):c.1387del (p.Val463fs)	Lysinuric protein intolerance [RCV000049771]	pathogenic\|likely pathogenic	14	22773975	22773975	Human	1	name
8617093	CV71000	deletion	NM_003982.4(SLC7A7):c.1460del (p.Cys487fs)	Lysinuric protein intolerance [RCV000049774]	likely pathogenic	14	22773686	22773686	Human	1	name
8617098	CV71005	single nucleotide variant	NM_003982.4(SLC7A7):c.371T>C (p.Leu124Pro)	Lysinuric protein intolerance [RCV000049779]\|not specified [RCV001778694]	likely pathogenic\|uncertain significance	14	22813028	22813028	Human	1	name
8617099	CV71006	single nucleotide variant	NM_003982.4(SLC7A7):c.418G>C (p.Ala140Pro)	Lysinuric protein intolerance [RCV000049780]\|not specified [RCV004767047]	likely pathogenic\|uncertain significance	14	22812981	22812981	Human	1	name
8617100	CV71007	single nucleotide variant	NM_003982.4(SLC7A7):c.454T>C (p.Phe152Leu)	Lysinuric protein intolerance [RCV000049781]	likely pathogenic	14	22812945	22812945	Human	1	name
8617103	CV71010	single nucleotide variant	NM_003982.4(SLC7A7):c.563C>T (p.Thr188Ile)	Lysinuric protein intolerance [RCV000049784]	likely pathogenic	14	22779988	22779988	Human	1	name
8617104	CV71011	single nucleotide variant	NM_003982.4(SLC7A7):c.571A>G (p.Lys191Glu)	Lysinuric protein intolerance [RCV000049785]\|not specified [RCV003226184]	likely pathogenic\|uncertain significance	14	22779980	22779980	Human	1	name
8617105	CV71012	single nucleotide variant	NM_003982.4(SLC7A7):c.622C>T (p.Gln208Ter)	Lysinuric protein intolerance [RCV000049786]	pathogenic\|likely pathogenic	14	22779929	22779929	Human	1	name
8617108	CV71015	single nucleotide variant	NM_003982.4(SLC7A7):c.713C>T (p.Ser238Phe)	Lysinuric protein intolerance [RCV000049789]\|not provided [RCV002307385]	pathogenic\|likely pathogenic	14	22778850	22778850	Human	1	name
8617109	CV71016	single nucleotide variant	NM_003982.4(SLC7A7):c.753G>T (p.Glu251Asp)	Lysinuric protein intolerance [RCV000049790]	likely pathogenic	14	22778810	22778810	Human	1	name
8617110	CV71017	single nucleotide variant	NM_003982.4(SLC7A7):c.782T>C (p.Leu261Pro)	Lysinuric protein intolerance [RCV000049791]\|not specified [RCV004767048]	likely pathogenic\|uncertain significance	14	22776307	22776307	Human	1	name
8617115	CV71022	single nucleotide variant	NM_003982.4(SLC7A7):c.998G>T (p.Arg333Met)	Lysinuric protein intolerance [RCV000049796]	likely pathogenic	14	22775833	22775833	Human	1	name
26918779	CV841185	single nucleotide variant	NM_003982.4(SLC7A7):c.896C>G (p.Thr299Ser)	Inborn genetic diseases [RCV002553842]\|Lysinuric protein intolerance [RCV001058257]	uncertain significance	14	22775935	22775935	Human	2	name
26914449	CV841186	single nucleotide variant	NM_003982.4(SLC7A7):c.860T>G (p.Met287Arg)	Lysinuric protein intolerance [RCV001054981]	uncertain significance	14	22776229	22776229	Human	1	name
26914259	CV841187	single nucleotide variant	NM_003982.4(SLC7A7):c.725G>A (p.Trp242Ter)	Lysinuric protein intolerance [RCV001054857]	pathogenic\|likely pathogenic	14	22778838	22778838	Human	1	name
26912999	CV841188	single nucleotide variant	NM_003982.4(SLC7A7):c.658G>C (p.Gly220Arg)	Lysinuric protein intolerance [RCV001053970]	uncertain significance	14	22778905	22778905	Human	1	name
26922977	CV841189	single nucleotide variant	NM_003982.4(SLC7A7):c.602C>T (p.Ala201Val)	Lysinuric protein intolerance [RCV001063085]	uncertain significance	14	22779949	22779949	Human	1	name
26921371	CV841190	single nucleotide variant	NM_003982.4(SLC7A7):c.590C>T (p.Ala197Val)	Lysinuric protein intolerance [RCV001060934]	uncertain significance	14	22779961	22779961	Human	1	name
26914186	CV841191	single nucleotide variant	NM_003982.4(SLC7A7):c.469G>C (p.Ala157Pro)	Lysinuric protein intolerance [RCV001040504]	uncertain significance	14	22812930	22812930	Human	1	name
28912049	CV871729	single nucleotide variant	NM_003982.4(SLC7A7):c.778C>T (p.Pro260Ser)	Lysinuric protein intolerance [RCV001111557]	uncertain significance	14	22776311	22776311	Human	1	name
28870428	CV871731	single nucleotide variant	NM_003982.4(SLC7A7):c.352A>T (p.Ile118Phe)	Lysinuric protein intolerance [RCV001113560]	uncertain significance	14	22813047	22813047	Human	1	name
38478864	CV926983	single nucleotide variant	NM_003982.4(SLC7A7):c.755T>A (p.Ile252Asn)	Lysinuric protein intolerance [RCV001216813]\|not provided [RCV001760198]	uncertain significance	14	22778808	22778808	Human	1	name
38475746	CV926984	single nucleotide variant	NM_003982.4(SLC7A7):c.659G>A (p.Gly220Asp)	Lysinuric protein intolerance [RCV001215322]	uncertain significance	14	22778904	22778904	Human	1	name
38483931	CV936551	single nucleotide variant	NM_003982.4(SLC7A7):c.337G>A (p.Gly113Arg)	Lysinuric protein intolerance [RCV001207837]	uncertain significance	14	22813062	22813062	Human	1	name
38483324	CV948479	single nucleotide variant	NM_003982.4(SLC7A7):c.704C>G (p.Ala235Gly)	Lysinuric protein intolerance [RCV001235877]	uncertain significance	14	22778859	22778859	Human	1	name
40906327	CV979471	single nucleotide variant	NM_003982.4(SLC7A7):c.760A>C (p.Asn254His)	Lysinuric protein intolerance [RCV001279688]	uncertain significance	14	22778803	22778803	Human	1	name
40906330	CV979474	single nucleotide variant	NM_003982.4(SLC7A7):c.446C>T (p.Pro149Leu)	Lysinuric protein intolerance [RCV001279691]	uncertain significance	14	22812953	22812953	Human	1	name
40906331	CV979475	single nucleotide variant	NM_003982.4(SLC7A7):c.439C>T (p.Leu147Phe)	Inborn genetic diseases [RCV004035495]\|Lysinuric protein intolerance [RCV001279692]\|not provided [RCV003481047]	likely benign\|uncertain significance	14	22812960	22812960	Human	2	name
126735205	CV1010994	single nucleotide variant	NM_003982.4(SLC7A7):c.1451A>G (p.Gln484Arg)	Lysinuric protein intolerance [RCV001324489]	uncertain significance	14	22773695	22773695	Human	1	name
126751211	CV1010995	single nucleotide variant	NM_003982.4(SLC7A7):c.1403G>A (p.Arg468Gln)	Lysinuric protein intolerance [RCV001326870]	uncertain significance	14	22773959	22773959	Human	1	name
126756609	CV1031492	single nucleotide variant	NM_003982.4(SLC7A7):c.1096G>A (p.Gly366Ser)	Lysinuric protein intolerance [RCV001339328]	uncertain significance	14	22774503	22774503	Human	1	name
127243836	CV1063070	single nucleotide variant	NM_003982.4(SLC7A7):c.1116C>G (p.Tyr372Ter)	Lysinuric protein intolerance [RCV001384098]	pathogenic\|likely pathogenic	14	22774483	22774483	Human	1	name
151759490	CV1340691	single nucleotide variant	NM_003982.4(SLC7A7):c.1003T>G (p.Phe335Val)	Lysinuric protein intolerance [RCV001913812]	uncertain significance	14	22775536	22775536	Human	1	name
151812958	CV1343685	single nucleotide variant	NM_003982.4(SLC7A7):c.1468G>C (p.Val490Leu)	Lysinuric protein intolerance [RCV001918795]	uncertain significance	14	22773678	22773678	Human	1	name
151782052	CV1350011	single nucleotide variant	NM_003982.4(SLC7A7):c.1265T>G (p.Ile422Ser)	Lysinuric protein intolerance [RCV001989228]	uncertain significance	14	22774097	22774097	Human	1	name
151843574	CV1357955	single nucleotide variant	NM_003982.4(SLC7A7):c.1184T>C (p.Leu395Pro)	Lysinuric protein intolerance [RCV001881656]	uncertain significance	14	22774415	22774415	Human	1	name
151724513	CV1369853	single nucleotide variant	NM_003982.4(SLC7A7):c.1282A>G (p.Thr428Ala)	Lysinuric protein intolerance [RCV001945348]	uncertain significance	14	22774080	22774080	Human	1	name
151771103	CV1404356	single nucleotide variant	NM_003982.4(SLC7A7):c.1110G>C (p.Leu370Phe)	Lysinuric protein intolerance [RCV002045251]	uncertain significance	14	22774489	22774489	Human	1	name
151771700	CV1404555	single nucleotide variant	NM_003982.4(SLC7A7):c.1053C>G (p.Ile351Met)	Lysinuric protein intolerance [RCV002045308]	uncertain significance	14	22775486	22775486	Human	1	name
151880036	CV1405770	single nucleotide variant	NM_003982.4(SLC7A7):c.1210C>T (p.Arg404Cys)	Lysinuric protein intolerance [RCV001940881]	uncertain significance	14	22774389	22774389	Human	1	name
151857674	CV1408147	single nucleotide variant	NM_003982.4(SLC7A7):c.1505T>C (p.Met502Thr)	Lysinuric protein intolerance [RCV001883526]	uncertain significance	14	22773641	22773641	Human	1	name
151821684	CV1415506	single nucleotide variant	NM_003982.4(SLC7A7):c.1156A>T (p.Ser386Cys)	Lysinuric protein intolerance [RCV001900945]	uncertain significance	14	22774443	22774443	Human	1	name
151811906	CV1417526	single nucleotide variant	NM_003982.4(SLC7A7):c.1481T>C (p.Met494Thr)	Lysinuric protein intolerance [RCV002029050]	uncertain significance	14	22773665	22773665	Human	1	name
151774092	CV1440471	single nucleotide variant	NM_003982.4(SLC7A7):c.1457T>C (p.Leu486Pro)	Lysinuric protein intolerance [RCV001896626]	uncertain significance	14	22773689	22773689	Human	1	name
151781369	CV1446603	single nucleotide variant	NM_003982.4(SLC7A7):c.1453G>A (p.Val485Ile)	Lysinuric protein intolerance [RCV002046198]	uncertain significance	14	22773693	22773693	Human	1	name
151724393	CV1459283	single nucleotide variant	NM_003982.4(SLC7A7):c.1520A>G (p.Asp507Gly)	Lysinuric protein intolerance [RCV002020599]	uncertain significance	14	22773626	22773626	Human	1	name
151749254	CV1460474	single nucleotide variant	NM_003982.4(SLC7A7):c.1463T>C (p.Met488Thr)	Lysinuric protein intolerance [RCV001894158]	uncertain significance	14	22773683	22773683	Human	1	name
151823025	CV1466203	single nucleotide variant	NM_003982.4(SLC7A7):c.1460G>A (p.Cys487Tyr)	Lysinuric protein intolerance [RCV001879399]	uncertain significance	14	22773686	22773686	Human	1	name
151887858	CV1472097	single nucleotide variant	NM_003982.4(SLC7A7):c.1340T>C (p.Ile447Thr)	Lysinuric protein intolerance [RCV002000966]	uncertain significance	14	22774022	22774022	Human	1	name
151741807	CV1504307	single nucleotide variant	NM_003982.4(SLC7A7):c.1271T>C (p.Phe424Ser)	Lysinuric protein intolerance [RCV002022389]	uncertain significance	14	22774091	22774091	Human	1	name
155672385	CV1774019	single nucleotide variant	NM_003982.4(SLC7A7):c.1288T>G (p.Phe430Val)	Lysinuric protein intolerance [RCV002297584]	uncertain significance	14	22774074	22774074	Human	1	name
155734802	CV1781185	single nucleotide variant	NM_003982.4(SLC7A7):c.1201C>T (p.Leu401Phe)	not provided [RCV002308974]	uncertain significance	14	22774398	22774398	Human		name
156318593	CV1876135	single nucleotide variant	NM_003982.4(SLC7A7):c.1345A>G (p.Ile449Val)	Inborn genetic diseases [RCV003068290]\|Lysinuric protein intolerance [RCV003062912]	uncertain significance	14	22774017	22774017	Human	2	name
156150534	CV1878938	single nucleotide variant	NM_003982.4(SLC7A7):c.1094A>G (p.Asn365Ser)	Lysinuric protein intolerance [RCV003056515]	uncertain significance	14	22775445	22775445	Human	1	name
156273884	CV1880473	single nucleotide variant	NM_003982.4(SLC7A7):c.1388T>A (p.Val463Glu)	Lysinuric protein intolerance [RCV003060818]	uncertain significance	14	22773974	22773974	Human	1	name
156052331	CV1881742	single nucleotide variant	NM_003982.4(SLC7A7):c.1489G>A (p.Glu497Lys)	Inborn genetic diseases [RCV004071702]\|Lysinuric protein intolerance [RCV003078921]	uncertain significance	14	22773657	22773657	Human	2	name
156410749	CV1882732	single nucleotide variant	NM_003982.4(SLC7A7):c.1208T>G (p.Leu403Arg)	Lysinuric protein intolerance [RCV003072195]	uncertain significance	14	22774391	22774391	Human	1	name
156048862	CV1884276	single nucleotide variant	NM_003982.4(SLC7A7):c.1424T>C (p.Ile475Thr)	Lysinuric protein intolerance [RCV003078796]	uncertain significance	14	22773938	22773938	Human	1	name
156284574	CV1884727	single nucleotide variant	NM_003982.4(SLC7A7):c.1321A>G (p.Ile441Val)	Inborn genetic diseases [RCV004963395]\|Lysinuric protein intolerance [RCV003061194]\|not provided [RCV003481382]	conflicting interpretations of pathogenicity\|uncertain significance	14	22774041	22774041	Human	2	name
156042949	CV1887259	single nucleotide variant	NM_003982.4(SLC7A7):c.1027C>T (p.His343Tyr)	Lysinuric protein intolerance [RCV003078589]	uncertain significance	14	22775512	22775512	Human	1	name
156067093	CV1888862	single nucleotide variant	NM_003982.4(SLC7A7):c.1443G>T (p.Arg481Ser)	Lysinuric protein intolerance [RCV003079414]	uncertain significance	14	22773703	22773703	Human	1	name
156300418	CV1890859	single nucleotide variant	NM_003982.4(SLC7A7):c.1243A>G (p.Lys415Glu)	Lysinuric protein intolerance [RCV003087900]	uncertain significance	14	22774356	22774356	Human	1	name
155986424	CV1907761	single nucleotide variant	NM_003982.4(SLC7A7):c.1130A>G (p.Asp377Gly)	Lysinuric protein intolerance [RCV003097623]	uncertain significance	14	22774469	22774469	Human	1	name
156308462	CV1912774	single nucleotide variant	NM_003982.4(SLC7A7):c.1024G>A (p.Gly342Ser)	Lysinuric protein intolerance [RCV002599518]	uncertain significance	14	22775515	22775515	Human	1	name
156406176	CV1921484	single nucleotide variant	NM_003982.4(SLC7A7):c.1330C>T (p.Leu444Phe)	Lysinuric protein intolerance [RCV002606512]	uncertain significance	14	22774032	22774032	Human	1	name
156378461	CV1927292	single nucleotide variant	NM_003982.4(SLC7A7):c.1414C>T (p.Leu472Phe)	Lysinuric protein intolerance [RCV002634059]	uncertain significance	14	22773948	22773948	Human	1	name
156069244	CV1928044	single nucleotide variant	NM_003982.4(SLC7A7):c.1235G>A (p.Arg412His)	Inborn genetic diseases [RCV003162085]\|Lysinuric protein intolerance [RCV002638546]	uncertain significance	14	22774364	22774364	Human	2	name
156128934	CV1966120	single nucleotide variant	NM_003982.4(SLC7A7):c.1322T>G (p.Ile441Ser)	Lysinuric protein intolerance [RCV002593420]	uncertain significance	14	22774040	22774040	Human	1	name
156224740	CV1981508	single nucleotide variant	NM_003982.4(SLC7A7):c.1316A>G (p.Asp439Gly)	Lysinuric protein intolerance [RCV002626577]	uncertain significance	14	22774046	22774046	Human	1	name
155932598	CV2035160	single nucleotide variant	NM_003982.4(SLC7A7):c.1030C>G (p.Leu344Val)	Lysinuric protein intolerance [RCV002751243]	uncertain significance	14	22775509	22775509	Human	1	name
156006561	CV2041981	single nucleotide variant	NM_003982.4(SLC7A7):c.1406C>G (p.Pro469Arg)	Lysinuric protein intolerance [RCV002756459]	uncertain significance	14	22773956	22773956	Human	1	name
156232423	CV2093880	single nucleotide variant	NM_003982.4(SLC7A7):c.1281C>A (p.Cys427Ter)	Lysinuric protein intolerance [RCV002894604]	pathogenic	14	22774081	22774081	Human	1	name
156017681	CV2114595	single nucleotide variant	NM_003982.4(SLC7A7):c.1103T>C (p.Met368Thr)	Inborn genetic diseases [RCV005266432]\|Lysinuric protein intolerance [RCV002909454]	uncertain significance	14	22774496	22774496	Human	2	name
156027232	CV2116573	single nucleotide variant	NM_003982.4(SLC7A7):c.1336G>A (p.Gly446Ser)	Lysinuric protein intolerance [RCV002923348]	uncertain significance	14	22774026	22774026	Human	1	name
8559180	CV21248	single nucleotide variant	NM_003982.4(SLC7A7):c.1001T>G (p.Leu334Arg)	Lysinuric protein intolerance [RCV000006587]	pathogenic	14	22775538	22775538	Human	1	name
8559183	CV21251	single nucleotide variant	NM_003982.4(SLC7A7):c.1228C>T (p.Arg410Ter)	Lysinuric protein intolerance [RCV000006590]	pathogenic\|likely pathogenic	14	22774371	22774371	Human	1	name
155950621	CV2133139	single nucleotide variant	NM_003982.4(SLC7A7):c.1516C>T (p.Arg506Trp)	Inborn genetic diseases [RCV004068426]\|Lysinuric protein intolerance [RCV002994608]	uncertain significance	14	22773630	22773630	Human	2	name
156210942	CV2141945	single nucleotide variant	NM_003982.4(SLC7A7):c.1063C>T (p.Arg355Trp)	Lysinuric protein intolerance [RCV002985587]	uncertain significance	14	22775476	22775476	Human	1	name
156224177	CV2219291	single nucleotide variant	NM_003982.4(SLC7A7):c.1058T>A (p.Val353Asp)	Inborn genetic diseases [RCV002712328]	uncertain significance	14	22775481	22775481	Human	1	name
156066305	CV2236904	single nucleotide variant	NM_003982.4(SLC7A7):c.1219G>A (p.Glu407Lys)	Inborn genetic diseases [RCV002782909]	uncertain significance	14	22774380	22774380	Human	1	name
155995209	CV2278055	single nucleotide variant	NM_003982.4(SLC7A7):c.1511A>T (p.Lys504Met)	Inborn genetic diseases [RCV002882779]	uncertain significance	14	22773635	22773635	Human	1	name
156160939	CV2319417	single nucleotide variant	NM_003982.4(SLC7A7):c.1436C>T (p.Ala479Val)	Inborn genetic diseases [RCV002955258]	uncertain significance	14	22773710	22773710	Human	1	name
329953538	CV2670317	single nucleotide variant	NM_003982.4(SLC7A7):c.1215G>A (p.Trp405Ter)	Lysinuric protein intolerance [RCV003234623]	likely pathogenic	14	22774384	22774384	Human	1	name
401776482	CV2689155	single nucleotide variant	NM_003982.4(SLC7A7):c.1286T>C (p.Ile429Thr)	Inborn genetic diseases [RCV003286444]	uncertain significance	14	22774076	22774076	Human	1	name
401894994	CV2792661	single nucleotide variant	NM_003982.4(SLC7A7):c.1103T>A (p.Met368Lys)	Inborn genetic diseases [RCV003372059]	uncertain significance	14	22774496	22774496	Human	1	name
401949187	CV2836550	single nucleotide variant	NM_003982.4(SLC7A7):c.1169G>A (p.Trp390Ter)	Lysinuric protein intolerance [RCV003472947]	likely pathogenic	14	22774430	22774430	Human	1	name
401949231	CV2836560	single nucleotide variant	NM_003982.4(SLC7A7):c.1461T>A (p.Cys487Ter)	Lysinuric protein intolerance [RCV003474024]	likely pathogenic	14	22773685	22773685	Human	1	name
401949224	CV2836567	single nucleotide variant	NM_003982.4(SLC7A7):c.1371C>G (p.Tyr457Ter)	Lysinuric protein intolerance [RCV003474031]	likely pathogenic	14	22773991	22773991	Human	1	name
11603520	CV320321	single nucleotide variant	NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met)	Autoinflammatory syndrome [RCV002262974]\|Lysinuric protein intolerance [RCV000300992]\|SLC7A7-related disorder [RCV003940212]\|not provided [RCV001729525]\|not specified [RCV003235187]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	22773982	22773982	Human	2	name , trait , alternate_id
11625594	CV328906	single nucleotide variant	NM_003982.4(SLC7A7):c.1170G>C (p.Trp390Cys)	Inborn genetic diseases [RCV004668894]\|Lysinuric protein intolerance [RCV000400578]	uncertain significance	14	22774429	22774429	Human	2	name
11617419	CV328916	single nucleotide variant	NM_003982.4(SLC7A7):c.1128A>C (p.Glu376Asp)	Autoinflammatory syndrome [RCV002262975]\|Lysinuric protein intolerance [RCV000304433]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	22774471	22774471	Human	2	name
405770757	CV3322306	single nucleotide variant	NM_003982.4(SLC7A7):c.1033C>G (p.Pro345Ala)	Inborn genetic diseases [RCV004456937]	uncertain significance	14	22775506	22775506	Human	1	name
405770770	CV3322308	single nucleotide variant	NM_003982.4(SLC7A7):c.1381A>G (p.Ile461Val)	Inborn genetic diseases [RCV004456939]	likely benign	14	22773981	22773981	Human	1	name
11620386	CV335508	single nucleotide variant	NM_003982.4(SLC7A7):c.1405C>T (p.Pro469Ser)	Inborn genetic diseases [RCV002522298]\|Lysinuric protein intolerance [RCV000336121]\|not provided [RCV003480593]	uncertain significance	14	22773957	22773957	Human	2	name
11625231	CV335516	single nucleotide variant	NM_003982.4(SLC7A7):c.1400A>T (p.Lys467Met)	Inborn genetic diseases [RCV002522299]\|Lysinuric protein intolerance [RCV000396542]\|not provided [RCV003480594]	uncertain significance	14	22773962	22773962	Human	2	name
11659439	CV337395	single nucleotide variant	NM_003982.4(SLC7A7):c.1184T>A (p.Leu395His)	Lysinuric protein intolerance [RCV000358015]	uncertain significance	14	22774415	22774415	Human	1	name
11619528	CV337404	single nucleotide variant	NM_003982.4(SLC7A7):c.1064G>A (p.Arg355Gln)	Autoinflammatory syndrome [RCV002262977]\|Lysinuric protein intolerance [RCV000326397]\|SLC7A7-related disorder [RCV003969876]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	22775475	22775475	Human	2	name , trait , alternate_id
405869781	CV3399503	duplication	NM_003982.4(SLC7A7):c.1370dup (p.Tyr457Ter)	Lysinuric protein intolerance [RCV004573648]	likely pathogenic	14	22773991	22773992	Human	1	name
407475423	CV3414359	single nucleotide variant	NM_003982.4(SLC7A7):c.1034C>G (p.Pro345Arg)	Lysinuric protein intolerance [RCV004596695]	likely pathogenic	14	22775505	22775505	Human	1	name
407515725	CV3481124	single nucleotide variant	NM_003982.4(SLC7A7):c.1054C>T (p.His352Tyr)	Inborn genetic diseases [RCV004675031]	uncertain significance	14	22775485	22775485	Human	1	name
597627483	CV3606772	single nucleotide variant	NM_003982.4(SLC7A7):c.1234C>T (p.Arg412Cys)	Inborn genetic diseases [RCV004966498]	uncertain significance	14	22774365	22774365	Human	1	name
597688460	CV3710715	single nucleotide variant	NM_003982.4(SLC7A7):c.1534T>C (p.Ter512Gln)	Lysinuric protein intolerance [RCV005007135]	uncertain significance	14	22773612	22773612	Human	1	name
597676945	CV3710716	single nucleotide variant	NM_003982.4(SLC7A7):c.1526A>C (p.Lys509Thr)	Lysinuric protein intolerance [RCV005005606]	uncertain significance	14	22773620	22773620	Human	1	name
597688482	CV3710723	single nucleotide variant	NM_003982.4(SLC7A7):c.1280G>A (p.Cys427Tyr)	Lysinuric protein intolerance [RCV005007137]	uncertain significance	14	22774082	22774082	Human	1	name
597688489	CV3710724	single nucleotide variant	NM_003982.4(SLC7A7):c.1273T>G (p.Cys425Gly)	Lysinuric protein intolerance [RCV005007138]	uncertain significance	14	22774089	22774089	Human	1	name
597688524	CV3710726	single nucleotide variant	NM_003982.4(SLC7A7):c.1151A>C (p.Tyr384Ser)	Lysinuric protein intolerance [RCV005007141]	uncertain significance	14	22774448	22774448	Human	1	name
597688531	CV3710727	single nucleotide variant	NM_003982.4(SLC7A7):c.1118T>C (p.Leu373Ser)	Lysinuric protein intolerance [RCV005007142]	uncertain significance	14	22774481	22774481	Human	1	name
597688556	CV3710729	single nucleotide variant	NM_003982.4(SLC7A7):c.1048A>T (p.Met350Leu)	Lysinuric protein intolerance [RCV005007144]	uncertain significance	14	22775491	22775491	Human	1	name
597688566	CV3710730	single nucleotide variant	NM_003982.4(SLC7A7):c.1039G>A (p.Ala347Thr)	Lysinuric protein intolerance [RCV005007145]	uncertain significance	14	22775500	22775500	Human	1	name
597845259	CV3768694	single nucleotide variant	NM_003982.4(SLC7A7):c.1262C>A (p.Pro421Gln)	Lysinuric protein intolerance [RCV005120880]	uncertain significance	14	22774100	22774100	Human	1	name
597861403	CV3797695	single nucleotide variant	NM_003982.4(SLC7A7):c.1154A>G (p.Tyr385Cys)	Lysinuric protein intolerance [RCV005135687]	uncertain significance	14	22774445	22774445	Human	1	name
597831927	CV3863995	single nucleotide variant	NM_003982.4(SLC7A7):c.1307T>G (p.Leu436Arg)	Lysinuric protein intolerance [RCV005208411]	uncertain significance	14	22774055	22774055	Human	1	name
598260232	CV3922044	single nucleotide variant	NM_003982.4(SLC7A7):c.1316A>C (p.Asp439Ala)	Inborn genetic diseases [RCV005279743]	uncertain significance	14	22774046	22774046	Human	1	name
13618407	CV527965	single nucleotide variant	NM_003982.4(SLC7A7):c.1112T>C (p.Ile371Thr)	Lysinuric protein intolerance [RCV000634955]	uncertain significance	14	22774487	22774487	Human	1	name
13618411	CV528039	single nucleotide variant	NM_003982.4(SLC7A7):c.1262C>T (p.Pro421Leu)	Lysinuric protein intolerance [RCV000634958]	uncertain significance	14	22774100	22774100	Human	1	name
13794686	CV552172	single nucleotide variant	NM_003982.4(SLC7A7):c.1122C>A (p.Cys374Ter)	Lysinuric protein intolerance [RCV000680100]	pathogenic	14	22774477	22774477	Human	1	name
13822451	CV568744	single nucleotide variant	NM_003982.4(SLC7A7):c.1123G>A (p.Val375Met)	Inborn genetic diseases [RCV002533483]\|Lysinuric protein intolerance [RCV000697339]	uncertain significance	14	22774476	22774476	Human	2	name
13813003	CV572741	single nucleotide variant	NM_003982.4(SLC7A7):c.1189A>G (p.Ile397Val)	Lysinuric protein intolerance [RCV000704067]	uncertain significance	14	22774410	22774410	Human	1	name
13831763	CV582260	single nucleotide variant	NM_003982.4(SLC7A7):c.1195G>A (p.Gly399Ser)	not provided [RCV000722445]	uncertain significance	14	22774404	22774404	Human		name
8617079	CV70986	single nucleotide variant	NM_003982.4(SLC7A7):c.1013G>A (p.Gly338Asp)	Lysinuric protein intolerance [RCV000049760]	likely pathogenic\|uncertain significance	14	22775526	22775526	Human	1	name
8617081	CV70988	single nucleotide variant	NM_003982.4(SLC7A7):c.1093A>T (p.Asn365Tyr)	Lysinuric protein intolerance [RCV000049762]	likely pathogenic	14	22775446	22775446	Human	1	name
8617083	CV70990	single nucleotide variant	NM_003982.4(SLC7A7):c.1158C>A (p.Ser386Arg)	Lysinuric protein intolerance [RCV000049764]	likely pathogenic	14	22774441	22774441	Human	1	name
8617086	CV70993	single nucleotide variant	NM_003982.4(SLC7A7):c.1273T>C (p.Cys425Arg)	Lysinuric protein intolerance [RCV000049767]	likely pathogenic\|uncertain significance	14	22774089	22774089	Human	1	name
8617088	CV70995	single nucleotide variant	NM_003982.4(SLC7A7):c.1371C>A (p.Tyr457Ter)	Lysinuric protein intolerance [RCV000049769]	likely pathogenic	14	22773991	22773991	Human	1	name
8617091	CV70998	single nucleotide variant	NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter)	Lysinuric protein intolerance [RCV000049772]\|not provided [RCV003324723]	pathogenic\|likely pathogenic	14	22773960	22773960	Human	1	name
8617092	CV70999	single nucleotide variant	NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter)	Lysinuric protein intolerance [RCV000049773]\|not provided [RCV001701733]	pathogenic\|likely pathogenic	14	22773945	22773945	Human	1	name
8617094	CV71001	single nucleotide variant	NM_003982.4(SLC7A7):c.1465T>C (p.Ser489Pro)	Lysinuric protein intolerance [RCV000049775]\|not specified [RCV004689439]	likely pathogenic\|uncertain significance	14	22773681	22773681	Human	1	name
26885460	CV841181	single nucleotide variant	NM_003982.4(SLC7A7):c.1349C>T (p.Ala450Val)	Lysinuric protein intolerance [RCV001043560]	uncertain significance	14	22774013	22774013	Human	1	name
26896767	CV841182	single nucleotide variant	NM_003982.4(SLC7A7):c.1333A>G (p.Ile445Val)	Lysinuric protein intolerance [RCV001048252]	uncertain significance	14	22774029	22774029	Human	1	name
26923416	CV841183	single nucleotide variant	NM_003982.4(SLC7A7):c.1229G>A (p.Arg410Gln)	Lysinuric protein intolerance [RCV001063945]	uncertain significance	14	22774370	22774370	Human	1	name
26891979	CV841184	single nucleotide variant	NM_003982.4(SLC7A7):c.1150T>C (p.Tyr384His)	Lysinuric protein intolerance [RCV001046710]	uncertain significance	14	22774449	22774449	Human	1	name
28870240	CV871724	single nucleotide variant	NM_003982.4(SLC7A7):c.1406C>T (p.Pro469Leu)	Inborn genetic diseases [RCV005278736]\|Lysinuric protein intolerance [RCV001113470]\|SLC7A7-related disorder [RCV003918697]	uncertain significance	14	22773956	22773956	Human	2	name , trait , alternate_id
28873145	CV871725	single nucleotide variant	NM_003982.4(SLC7A7):c.1315G>A (p.Asp439Asn)	Lysinuric protein intolerance [RCV001114869]\|not provided [RCV003442207]	uncertain significance	14	22774047	22774047	Human	1	name
28873149	CV871726	single nucleotide variant	NM_003982.4(SLC7A7):c.1215G>T (p.Trp405Cys)	Lysinuric protein intolerance [RCV001114871]	uncertain significance	14	22774384	22774384	Human	1	name
28910498	CV871727	single nucleotide variant	NM_003982.4(SLC7A7):c.1136T>G (p.Phe379Cys)	Lysinuric protein intolerance [RCV001109226]	uncertain significance	14	22774463	22774463	Human	1	name
28910500	CV871728	single nucleotide variant	NM_003982.4(SLC7A7):c.1012G>A (p.Gly338Ser)	Lysinuric protein intolerance [RCV001109227]	uncertain significance	14	22775527	22775527	Human	1	name
38489704	CV948478	single nucleotide variant	NM_003982.4(SLC7A7):c.1225G>C (p.Asp409His)	Lysinuric protein intolerance [RCV001238527]	uncertain significance	14	22774374	22774374	Human	1	name
38466965	CV957171	single nucleotide variant	NM_003982.4(SLC7A7):c.1436C>G (p.Ala479Gly)	Lysinuric protein intolerance [RCV001247763]	uncertain significance	14	22773710	22773710	Human	1	name
38456912	CV957172	single nucleotide variant	NM_003982.4(SLC7A7):c.1266T>G (p.Ile422Met)	Lysinuric protein intolerance [RCV001245923]	uncertain significance	14	22774096	22774096	Human	1	name
38499909	CV957173	single nucleotide variant	NM_003982.4(SLC7A7):c.1211G>A (p.Arg404His)	Autoinflammatory syndrome [RCV002264249]\|Lysinuric protein intolerance [RCV001245244]	uncertain significance	14	22774388	22774388	Human	2	name
38491533	CV957174	single nucleotide variant	NM_003982.4(SLC7A7):c.1004T>C (p.Phe335Ser)	Lysinuric protein intolerance [RCV001239535]	uncertain significance	14	22775535	22775535	Human	1	name
126760303	CV995741	single nucleotide variant	NM_003982.4(SLC7A7):c.1282A>C (p.Thr428Pro)	Lysinuric protein intolerance [RCV001299754]	uncertain significance	14	22774080	22774080	Human	1	name
151875724	CV1466862	deletion	NM_003982.4(SLC7A7):c.126_129del (p.Val43fs)	Lysinuric protein intolerance [RCV001885834]	pathogenic	14	22813270	22813273	Human	1	name
401949223	CV2836568	deletion	NM_003982.4(SLC7A7):c.118_127del (p.Leu40fs)	Lysinuric protein intolerance [RCV003474032]	likely pathogenic	14	22813272	22813281	Human	1	name
8617077	CV70984	single nucleotide variant	NM_001126105.2(SLC7A7):c.158C>T (p.Ser53Leu)	Lysinuric protein intolerance [RCV000049758]\|not specified [RCV004689438]	likely pathogenic\|uncertain significance	14	22813241	22813241	Human	1	name
8617096	CV71003	microsatellite	NM_003982.4(SLC7A7):c.215_218del (p.Ser72fs)	Lysinuric protein intolerance [RCV000049777]	pathogenic\|likely pathogenic	14	22813181	22813184	Human		name
8617097	CV71004	deletion	NM_003982.4(SLC7A7):c.254_255del (p.Phe85fs)	Lysinuric protein intolerance [RCV000049778]	pathogenic\|likely pathogenic	14	22813144	22813145	Human	1	name
151790921	CV1393170	deletion	NM_003982.4(SLC7A7):c.608_609del (p.Ile203fs)	Lysinuric protein intolerance [RCV001931407]	pathogenic	14	22779942	22779943	Human	1	name
151720639	CV1493944	duplication	NM_003982.4(SLC7A7):c.635_638dup (p.Phe214fs)	Lysinuric protein intolerance [RCV001983019]	pathogenic	14	22778924	22778925	Human	1	name
401949183	CV2836554	deletion	NM_003982.4(SLC7A7):c.819_822del (p.Tyr274fs)	Lysinuric protein intolerance [RCV003472952]	likely pathogenic	14	22776267	22776270	Human	1	name
401949227	CV2836564	deletion	NM_003982.4(SLC7A7):c.346_349del (p.Ala116fs)	Lysinuric protein intolerance [RCV003474028]	pathogenic	14	22813050	22813053	Human	1	name
401949226	CV2836565	deletion	NM_003982.4(SLC7A7):c.310_314del (p.Tyr104fs)	Lysinuric protein intolerance [RCV003474029]	likely pathogenic	14	22813085	22813089	Human	1	name
401949221	CV2836570	microsatellite	NM_003982.4(SLC7A7):c.863_866del (p.Arg288fs)	Lysinuric protein intolerance [RCV003474034]	likely pathogenic	14	22776223	22776226	Human		name
405114928	CV2968832	deletion	NM_003982.4(SLC7A7):c.816_822del (p.Ile273fs)	Lysinuric protein intolerance [RCV003616271]	pathogenic	14	22776267	22776273	Human	1	name
405118321	CV3015087	deletion	NM_003982.4(SLC7A7):c.970_989del (p.Leu324fs)	Lysinuric protein intolerance [RCV003616711]	pathogenic	14	22775842	22775861	Human	1	name
597877901	CV3804645	deletion	NM_003982.4(SLC7A7):c.223_225del (p.Ile75del)	Lysinuric protein intolerance [RCV005153080]	uncertain significance	14	22813174	22813176	Human	1	name
8617080	CV70987	deletion	NM_003982.4(SLC7A7):c.106_108del (p.Glu36del)	Lysinuric protein intolerance [RCV000049761]	likely pathogenic	14	22813291	22813293	Human	1	name
38481927	CV926985	duplication	NM_003982.4(SLC7A7):c.484_490dup (p.Ala164fs)	Lysinuric protein intolerance [RCV001218231]	pathogenic	14	22812908	22812909	Human	1	name
13821413	CV567866	microsatellite	NM_003982.4(SLC7A7):c.1376TCA[2] (p.Ile461del)	Lysinuric protein intolerance [RCV000695852]	uncertain significance	14	22773978	22773980	Human		name
8635171	CV90393	single nucleotide variant	NM_001126105.2(SLC7A7):c.1050G>A (p.Met350Ile)	Malignant melanoma [RCV000070491]	not provided	14	22775489	22775489	Human		name
38493687	CV926982	microsatellite	NM_003982.4(SLC7A7):c.1376TCA[4] (p.Ile461dup)	Lysinuric protein intolerance [RCV001224444]	uncertain significance	14	22773977	22773978	Human		name
127244040	CV1063067	deletion	NM_003982.4(SLC7A7):c.1293_1308del (p.Val432fs)	Lysinuric protein intolerance [RCV003472949]	pathogenic\|likely pathogenic	14	22774054	22774069	Human	1	name
127239714	CV1063068	deletion	NM_003982.4(SLC7A7):c.1263_1269del (p.Ile422fs)	Lysinuric protein intolerance [RCV001383305]	pathogenic\|likely pathogenic	14	22774093	22774099	Human	1	name
155267396	CV1699598	microsatellite	NM_003982.4(SLC7A7):c.1533_1536del (p.Asn511fs)	not specified [RCV002283391]	uncertain significance	14	22773610	22773613	Human		name
155918893	CV2073597	duplication	NM_003982.4(SLC7A7):c.1028_1031dup (p.Pro345fs)	Lysinuric protein intolerance [RCV002838209]	pathogenic	14	22775507	22775508	Human	1	name
401949185	CV2836552	deletion	NM_003982.4(SLC7A7):c.1353_1366del (p.Ser452fs)	Lysinuric protein intolerance [RCV003472950]	likely pathogenic	14	22773996	22774009	Human	1	name
401949182	CV2836555	deletion	NM_003982.4(SLC7A7):c.1051_1057del (p.Ile351fs)	Lysinuric protein intolerance [RCV003472953]	likely pathogenic	14	22775482	22775488	Human	1	name
401949225	CV2836566	deletion	NM_003982.4(SLC7A7):c.1013_1025del (p.Gly338fs)	Lysinuric protein intolerance [RCV003474030]	likely pathogenic	14	22775514	22775526	Human	1	name
401949188	CV2836571	deletion	NM_003982.4(SLC7A7):c.1381_1384del (p.Ile461fs)	Lysinuric protein intolerance [RCV003474035]	likely pathogenic	14	22773978	22773981	Human	1	name
405120389	CV3024061	microsatellite	NM_003982.4(SLC7A7):c.1354_1355del (p.Ser452fs)	Lysinuric protein intolerance [RCV003616974]	pathogenic\|likely pathogenic	14	22774007	22774008	Human		name
405869783	CV3399505	duplication	NM_003982.4(SLC7A7):c.1322_1325dup (p.Ser443fs)	Lysinuric protein intolerance [RCV004573650]	pathogenic\|likely pathogenic	14	22774036	22774037	Human	1	name
597675902	CV3710721	duplication	NM_003982.4(SLC7A7):c.1308_1309dup (p.Tyr437fs)	Lysinuric protein intolerance [RCV005005609]	likely pathogenic	14	22774052	22774053	Human	1	name
8617084	CV70991	deletion	NM_003982.4(SLC7A7):c.1185_1188del (p.Ser396fs)	Lysinuric protein intolerance [RCV000049765]	pathogenic\|likely pathogenic	14	22774411	22774414	Human	1	name
8617089	CV70996	duplication	NM_003982.4(SLC7A7):c.1381_1384dup (p.Arg462fs)	Lysinuric protein intolerance [RCV000049770]	pathogenic\|likely pathogenic	14	22773977	22773978	Human	1	name
26899885	CV841179	deletion	NM_003982.4(SLC7A7):c.1507_1517del (p.Pro503fs)	Lysinuric protein intolerance [RCV001035138]	uncertain significance	14	22773629	22773639	Human	1	name
26885806	CV841180	deletion	NM_003982.4(SLC7A7):c.1383_1384del (p.Ile461fs)	Lysinuric protein intolerance [RCV001065675]	pathogenic\|likely pathogenic	14	22773978	22773979	Human	1	name
401949186	CV2836551	insertion	NM_003982.4(SLC7A7):c.118_119insGTTA (p.Leu40fs)	Lysinuric protein intolerance [RCV003472948]	likely pathogenic	14	22813280	22813281	Human	1	name
8617082	CV70989	duplication	NM_003982.4(SLC7A7):c.1147_1151dup (p.Tyr384Ter)	Lysinuric protein intolerance [RCV000049763]	pathogenic\|likely pathogenic	14	22774447	22774448	Human	1	name
402486817	CV2913799	indel	NM_003982.4(SLC7A7):c.158_159delinsGA (p.Ser53Ter)	Lysinuric protein intolerance [RCV003507075]	pathogenic	14	22813240	22813241	Human		name
597860449	CV3790104	deletion	NM_003982.4(SLC7A7):c.270del (p.Cys89_Tyr90insTer)	Lysinuric protein intolerance [RCV005134805]	pathogenic	14	22813129	22813129	Human	1	name
12901656	CV409080	indel	NM_003982.4(SLC7A7):c.360_361delinsAA (p.Trp121Arg)	Lysinuric protein intolerance [RCV000707234]\|not specified [RCV000485223]	uncertain significance	14	22813038	22813039	Human		name
38495692	CV948477	insertion	NM_003982.4(SLC7A7):c.1244_1245insTTAC (p.Lys415fs)	Lysinuric protein intolerance [RCV001225885]	pathogenic\|likely pathogenic	14	22774354	22774355	Human	1	name
127271009	CV1063073	deletion	NM_003982.4(SLC7A7):c.701del (p.Tyr233_Ser234insTer)	Lysinuric protein intolerance [RCV001390016]	pathogenic	14	22778862	22778862	Human	1	name
401949228	CV2836563	deletion	NM_003982.4(SLC7A7):c.944del (p.Leu314_Ser315insTer)	Lysinuric protein intolerance [RCV003474027]	likely pathogenic	14	22775887	22775887	Human	1	name
156217684	CV2081839	deletion	NM_003982.4(SLC7A7):c.1215del (p.Arg404_Trp405insTer)	Lysinuric protein intolerance [RCV002894057]	pathogenic	14	22774384	22774384	Human	1	name
8617078	CV70985	deletion	NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs)	Lysinuric protein intolerance [RCV000049759]	pathogenic\|likely pathogenic	14	22775531	22775534	Human	1	name
405213051	CV3169842	indel	NM_003982.4(SLC7A7):c.1288_1307delinsATCC (p.Phe430fs)	Lysinuric protein intolerance [RCV003862444]	pathogenic\|likely pathogenic	14	22774055	22774074	Human		name
127260396	CV1063074	deletion	NM_003982.4(SLC7A7):c.426_434del (p.Tyr142_Gln145delinsTer)	Lysinuric protein intolerance [RCV001380323]	pathogenic	14	22812965	22812973	Human	1	name
597688627	CV3710736	insertion	NM_003982.4(SLC7A7):c.687_688insTTGGCA (p.Leu232_Tyr233insAlaLeu)	Lysinuric protein intolerance [RCV005007151]	uncertain significance	14	22778875	22778876	Human	1	name
150547819	CV1303761	indel	NM_003982.4(SLC7A7):c.444_446delinsACT (p.Phe148_Pro149delinsLeuLeu)	not provided [RCV001763864]	uncertain significance	14	22812953	22812955	Human		name
597676709	CV3710717	indel	NM_003982.4(SLC7A7):c.1503_1505delinsTGC (p.Glu501_Met502delinsAspAla)	Lysinuric protein intolerance [RCV005005607]	uncertain significance	14	22773641	22773643	Human		name
597688469	CV3710719	indel	NM_003982.4(SLC7A7):c.1400_1405delinsTGCGAT (p.Lys467_Pro469delinsMetArgSer)	Lysinuric protein intolerance [RCV005007136]	uncertain significance	14	22773957	22773962	Human		name

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