Slc7a9 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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419 records found for search term Slc7a9

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8558926	CV20831	single nucleotide variant	SLC7A9, 789+2T-C	Cystinuria [RCV000006148]	pathogenic				Human	1	name
8558925	CV20829	insertion	SLC7A9, 1-BP INS, 799A	Cystinuria [RCV000006146]	pathogenic				Human	1	name
8558923	CV20824	deletion	SLC7A9, 2-BP DEL, 596TG	Cystinuria [RCV000006141]	pathogenic				Human	1	name
8558927	CV20833	single nucleotide variant	SLC7A9, IVS5AS, C-A, -3	Cystinuria [RCV000006150]	pathogenic				Human	1	name
405258963	CV3215240	single nucleotide variant	NM_014270.5(SLC7A9):c.*9G>A	SLC7A9-related disorder [RCV003942278]	benign	19	32830611	32830611	Human		name , trait , alternate_id
28898876	CV880254	single nucleotide variant	NM_014270.5(SLC7A9):c.*8C>T	Cystinuria [RCV001123743]\|SLC7A9-related disorder [RCV003938474]	likely benign\|uncertain significance	19	32830612	32830612	Human	2	name , trait , alternate_id
11625716	CV333045	single nucleotide variant	NM_014270.5(SLC7A9):c.*79T>C	Cystinuria [RCV000402525]\|not provided [RCV001613061]	benign\|likely benign	19	32830541	32830541	Human	2	name
11651134	CV343164	single nucleotide variant	NM_014270.5(SLC7A9):c.*77T>C	Cystinuria [RCV000297271]	uncertain significance	19	32830543	32830543	Human	2	name
11620506	CV343169	single nucleotide variant	NM_014270.5(SLC7A9):c.*20C>T	Cystinuria [RCV000337944]	uncertain significance	19	32830600	32830600	Human	2	name
11621930	CV343191	single nucleotide variant	NM_014270.5(SLC7A9):c.-26G>T	Cystinuria [RCV000354309]	uncertain significance	19	32868560	32868560	Human	2	name
11626237	CV348555	single nucleotide variant	NM_014270.5(SLC7A9):c.-39C>T	Cystinuria [RCV000259472]\|not provided [RCV001538186]	benign\|likely benign	19	32868573	32868573	Human	2	name
11654612	CV348557	single nucleotide variant	NM_014270.5(SLC7A9):c.-90G>A	Cystinuria [RCV000319302]	uncertain significance	19	32868624	32868624	Human	2	name
11630146	CV349632	single nucleotide variant	NM_014270.5(SLC7A9):c.*82C>T	Cystinuria [RCV000341544]\|not provided [RCV004694431]	uncertain significance	19	32830538	32830538	Human	2	name
152090441	CV1634176	single nucleotide variant	NM_014270.5(SLC7A9):c.88-7C>T	not provided [RCV002194223]	likely benign	19	32864783	32864783	Human		name
12907423	CV227403	single nucleotide variant	NM_014270.5(SLC7A9):c.88-2A>G	Cystinuria [RCV000490455]	likely pathogenic	19	32864778	32864778	Human	2	name
11619824	CV333089	single nucleotide variant	NM_014270.5(SLC7A9):c.-172T>A	Cystinuria [RCV000329985]\|not provided [RCV004717244]	benign	19	32869746	32869746	Human	2	name
11661174	CV343193	single nucleotide variant	NM_014270.5(SLC7A9):c.-119G>A	Cystinuria [RCV000374057]	uncertain significance	19	32869693	32869693	Human	2	name
11628002	CV348558	single nucleotide variant	NM_014270.5(SLC7A9):c.-159G>A	Cystinuria [RCV000293651]	uncertain significance	19	32869733	32869733	Human	2	name
597957554	CV3838515	single nucleotide variant	NM_014270.5(SLC7A9):c.88-4C>T	not provided [RCV005191890]	likely benign	19	32864780	32864780	Human		name
28909136	CV880270	single nucleotide variant	NM_014270.5(SLC7A9):c.-133C>A	Cystinuria [RCV001128556]	uncertain significance	19	32869707	32869707	Human	2	name
127320614	CV1158500	single nucleotide variant	NM_014270.5(SLC7A9):c.749+6A>G	SLC7A9-related disorder [RCV003931137]\|not provided [RCV001522725]	benign	19	32860600	32860600	Human	1	name , trait , alternate_id
151754166	CV1405536	single nucleotide variant	NM_014270.5(SLC7A9):c.604+1G>A	Cystinuria [RCV004762237]\|not provided [RCV001927821]	pathogenic	19	32862460	32862460	Human	2	name
155932955	CV1919766	single nucleotide variant	NM_014270.5(SLC7A9):c.236-4C>G	not provided [RCV002615106]	likely benign	19	32864342	32864342	Human		name
156155689	CV1926183	single nucleotide variant	NM_014270.5(SLC7A9):c.749+5C>T	not provided [RCV002624172]	uncertain significance	19	32860601	32860601	Human		name
401872879	CV2751966	deletion	NM_014270.5(SLC7A9):c.235+1del	Cystinuria [RCV003335843]	pathogenic	19	32864628	32864628	Human	2	name
405196026	CV3062907	single nucleotide variant	NM_014270.5(SLC7A9):c.977+9C>T	not provided [RCV003730074]	likely benign	19	32858431	32858431	Human		name
405287237	CV3205618	single nucleotide variant	NM_014270.5(SLC7A9):c.604+9C>T	SLC7A9-related disorder [RCV003959755]	likely benign	19	32862452	32862452	Human		name , trait , alternate_id
408379107	CV3515219	single nucleotide variant	NM_014270.5(SLC7A9):c.479-5T>C	SLC7A9-related disorder [RCV004752547]	uncertain significance	19	32862591	32862591	Human		name , trait , alternate_id
597660561	CV3709447	single nucleotide variant	NM_014270.5(SLC7A9):c.750-6T>G	Cystinuria [RCV005028435]	uncertain significance	19	32859970	32859970	Human	2	name
597660643	CV3709456	single nucleotide variant	NM_014270.5(SLC7A9):c.479-1G>A	Cystinuria [RCV005028446]	likely pathogenic	19	32862587	32862587	Human	2	name
597660649	CV3709457	single nucleotide variant	NM_014270.5(SLC7A9):c.478+6T>C	Cystinuria [RCV005028447]	uncertain significance	19	32864090	32864090	Human	2	name
597660656	CV3709458	single nucleotide variant	NM_014270.5(SLC7A9):c.478+1G>A	Cystinuria [RCV005028448]	likely pathogenic	19	32864095	32864095	Human	2	name
597887858	CV3859396	single nucleotide variant	NM_014270.5(SLC7A9):c.977+4G>A	not provided [RCV005200052]	uncertain significance	19	32858436	32858436	Human		name
12858912	CV389208	single nucleotide variant	NM_014270.5(SLC7A9):c.749+1G>C	Cystinuria [RCV000454228]	likely pathogenic	19	32860605	32860605	Human	2	name
598260291	CV3922056	single nucleotide variant	NM_014270.5(SLC7A9):c.704+3G>T	Inborn genetic diseases [RCV005279755]	uncertain significance	19	32862115	32862115	Human	1	name
13704864	CV539087	single nucleotide variant	NM_014270.5(SLC7A9):c.605-3C>A	Cystinuria [RCV000662157]	uncertain significance	19	32862220	32862220	Human	2	name
14709167	CV653028	single nucleotide variant	NM_014270.5(SLC7A9):c.705-2A>G	not provided [RCV000811293]	likely pathogenic	19	32860652	32860652	Human		name
26886913	CV851807	single nucleotide variant	NM_014270.5(SLC7A9):c.750-6T>A	not provided [RCV001055579]	likely benign\|uncertain significance	19	32859970	32859970	Human		name
38484326	CV940479	single nucleotide variant	NM_014270.5(SLC7A9):c.604+2T>C	Cystinuria [RCV001262259]\|not provided [RCV001208000]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	19	32862459	32862459	Human	2	name
127298051	CV1158498	single nucleotide variant	NM_014270.5(SLC7A9):c.978-17G>A	Cystinuria [RCV002488321]\|SLC7A9-related disorder [RCV003948508]\|not provided [RCV001513121]	benign\|likely benign\|conflicting interpretations of pathogenicity	19	32843968	32843968	Human	2	name , trait , alternate_id
127301912	CV1158499	single nucleotide variant	NM_014270.5(SLC7A9):c.978-18C>T	Cystinuria [RCV002506608]\|not provided [RCV001514873]	benign\|likely benign	19	32843969	32843969	Human	2	name
150336597	CV1165123	single nucleotide variant	NM_014270.5(SLC7A9):c.605-92C>T	not provided [RCV001530914]	benign	19	32862309	32862309	Human		name
150333768	CV1173212	single nucleotide variant	NM_014270.5(SLC7A9):c.235+22T>G	not provided [RCV001539640]	benign	19	32864607	32864607	Human		name
150417404	CV1199095	single nucleotide variant	NM_014270.5(SLC7A9):c.479-88A>T	not provided [RCV001576283]	likely benign	19	32862674	32862674	Human		name
150509124	CV1229812	single nucleotide variant	NM_014270.5(SLC7A9):c.87+275A>C	not provided [RCV001636391]	benign	19	32868173	32868173	Human		name
150483865	CV1247022	deletion	NM_014270.5(SLC7A9):c.479-83del	not provided [RCV001673518]	benign	19	32862669	32862669	Human		name
150486286	CV1251336	single nucleotide variant	NM_014270.5(SLC7A9):c.977+51A>G	not provided [RCV001674007]	benign	19	32858389	32858389	Human		name
150498509	CV1255591	single nucleotide variant	NM_014270.5(SLC7A9):c.88-210C>T	not provided [RCV001676379]	benign	19	32864986	32864986	Human		name
150494521	CV1256478	single nucleotide variant	NM_014270.5(SLC7A9):c.874-39A>G	Cystinuria [RCV001810219]\|not provided [RCV001675443]	benign	19	32858582	32858582	Human	2	name
150475605	CV1271216	single nucleotide variant	NM_014270.5(SLC7A9):c.87+293C>T	not provided [RCV001696039]	benign	19	32868155	32868155	Human		name
150456884	CV1278559	single nucleotide variant	NM_014270.5(SLC7A9):c.88-269T>C	not provided [RCV001709174]	benign	19	32865045	32865045	Human		name
150514819	CV1285332	single nucleotide variant	NM_014270.5(SLC7A9):c.87+114T>C	not provided [RCV001722785]	benign	19	32868334	32868334	Human		name
150514825	CV1285334	single nucleotide variant	NM_014270.5(SLC7A9):c.87+200T>C	not provided [RCV001722787]	benign	19	32868248	32868248	Human		name
150514832	CV1285336	single nucleotide variant	NM_014270.5(SLC7A9):c.604+24T>C	not provided [RCV001722789]	benign	19	32862437	32862437	Human		name
150514834	CV1285337	duplication	NM_014270.5(SLC7A9):c.479-97dup	not provided [RCV001722790]	benign	19	32862668	32862669	Human		name
150503437	CV1285756	duplication	NM_014270.5(SLC7A9):c.87+198dup	not provided [RCV001719179]	benign	19	32868230	32868231	Human		name
150546773	CV1313897	single nucleotide variant	NM_014270.5(SLC7A9):c.1400-2A>G	Cystinuria [RCV001784990]	pathogenic	19	32830686	32830686	Human	2	name
151769980	CV1424760	deletion	NM_014270.5(SLC7A9):c.1075-8del	not provided [RCV001874352]	likely benign\|uncertain significance	19	32842325	32842325	Human		name
152065305	CV1576285	single nucleotide variant	NM_014270.5(SLC7A9):c.874-14G>A	Cystinuria [RCV002498202]\|not provided [RCV002209245]	likely benign	19	32858557	32858557	Human	2	name
152142409	CV1587535	single nucleotide variant	NM_014270.5(SLC7A9):c.977+17G>A	Cystinuria [RCV002481000]\|not provided [RCV002138343]	likely benign	19	32858423	32858423	Human	2	name
156153487	CV1934607	single nucleotide variant	NM_014270.5(SLC7A9):c.978-12G>A	SLC7A9-related disorder [RCV003936629]\|not provided [RCV002663976]	likely benign	19	32843963	32843963	Human	1	name , trait , alternate_id
156365582	CV2106027	single nucleotide variant	NM_014270.5(SLC7A9):c.874-15C>G	not provided [RCV002941931]	likely benign	19	32858558	32858558	Human		name
156355498	CV2129869	single nucleotide variant	NM_014270.5(SLC7A9):c.235+18C>A	not provided [RCV002966626]	likely benign	19	32864611	32864611	Human		name
156096462	CV2132067	single nucleotide variant	NM_014270.5(SLC7A9):c.605-12G>A	not provided [RCV003002042]	likely benign	19	32862229	32862229	Human		name
405243308	CV3074849	single nucleotide variant	NM_014270.5(SLC7A9):c.749+16G>A	Cystinuria [RCV005030257]\|not provided [RCV003737769]	likely benign\|uncertain significance	19	32860590	32860590	Human	2	name
402487248	CV3181894	single nucleotide variant	NM_014270.5(SLC7A9):c.1225-5T>C	not provided [RCV003876563]	likely benign	19	32833328	32833328	Human		name
405276967	CV3198721	single nucleotide variant	NM_014270.5(SLC7A9):c.978-26C>T	SLC7A9-related disorder [RCV003904046]	likely benign	19	32843977	32843977	Human		name , trait , alternate_id
407426988	CV3409212	single nucleotide variant	NM_014270.5(SLC7A9):c.1074+5G>C	Cystinuria [RCV004585144]	uncertain significance	19	32843850	32843850	Human	2	name
11623631	CV343180	single nucleotide variant	NM_014270.5(SLC7A9):c.604+10G>A	Cystinuria [RCV000375455]\|not provided [RCV001510155]	benign\|likely benign	19	32862451	32862451	Human	2	name
11631033	CV349633	single nucleotide variant	NM_014270.5(SLC7A9):c.1225-8G>A	Cystinuria [RCV000366763]	uncertain significance	19	32833331	32833331	Human	2	name
11630520	CV349639	single nucleotide variant	NM_014270.5(SLC7A9):c.478+10T>C	Cystinuria [RCV000351486]\|not provided [RCV001510157]\|not specified [RCV001529665]	benign\|likely benign	19	32864086	32864086	Human	2	name
408383303	CV3518385	single nucleotide variant	NM_014270.5(SLC7A9):c.1074+5G>A	Cystinuria [RCV004759708]	likely pathogenic	19	32843850	32843850	Human	2	name
408383310	CV3518389	single nucleotide variant	NM_014270.5(SLC7A9):c.1399+1G>C	Cystinuria [RCV004759712]	pathogenic	19	32833148	32833148	Human	2	name
408383315	CV3518392	single nucleotide variant	NM_014270.5(SLC7A9):c.1399+2T>C	Cystinuria [RCV004759715]	pathogenic	19	32833147	32833147	Human	2	name
597660416	CV3709428	single nucleotide variant	NM_014270.5(SLC7A9):c.1225-1G>T	Cystinuria [RCV005028417]	likely pathogenic	19	32833324	32833324	Human	2	name
597660456	CV3709433	single nucleotide variant	NM_014270.5(SLC7A9):c.1075-1G>A	Cystinuria [RCV005028422]	likely pathogenic	19	32842318	32842318	Human	2	name
597660605	CV3709451	single nucleotide variant	NM_014270.5(SLC7A9):c.704+16A>G	Cystinuria [RCV005028441]	uncertain significance	19	32862102	32862102	Human	2	name
597894609	CV3773334	single nucleotide variant	NM_014270.5(SLC7A9):c.479-15T>C	not provided [RCV005111241]	likely benign	19	32862601	32862601	Human		name
597970456	CV3801962	single nucleotide variant	NM_014270.5(SLC7A9):c.1075-6T>C	not provided [RCV005141754]	likely benign	19	32842323	32842323	Human		name
597869574	CV3803499	single nucleotide variant	NM_014270.5(SLC7A9):c.1075-5A>G	not provided [RCV005148097]	likely benign	19	32842322	32842322	Human		name
597893433	CV3857081	single nucleotide variant	NM_014270.5(SLC7A9):c.1074+9A>G	not provided [RCV005200944]	likely benign	19	32843846	32843846	Human		name
21067026	CV792561	single nucleotide variant	NM_014270.5(SLC7A9):c.1399+5G>C	Cystine urolithiasis [RCV000991107]\|Cystinuria [RCV004761852]	likely pathogenic	19	32833144	32833144	Human	2	name
21067055	CV792562	duplication	NM_014270.5(SLC7A9):c.1399+2dup	Cystine urolithiasis [RCV000991119]\|Cystinuria [RCV005408617]\|not provided [RCV001054684]	pathogenic\|uncertain significance	19	32833146	32833147	Human	2	name
150331965	CV1163658	single nucleotide variant	NM_014270.5(SLC7A9):c.478+326C>T	not provided [RCV001528023]	benign	19	32863770	32863770	Human		name
150409725	CV1192123	deletion	NM_014270.5(SLC7A9):c.749+135del	not provided [RCV001565761]	likely benign	19	32860471	32860471	Human		name
150448600	CV1202058	single nucleotide variant	NM_014270.5(SLC7A9):c.750-266G>A	not provided [RCV001584928]	likely benign	19	32860230	32860230	Human		name
150482488	CV1209976	single nucleotide variant	NM_014270.5(SLC7A9):c.478+182G>A	not provided [RCV001590674]	likely benign	19	32863914	32863914	Human		name
150497437	CV1219406	single nucleotide variant	NM_014270.5(SLC7A9):c.704+254C>T	not provided [RCV001620075]	benign	19	32861864	32861864	Human		name
150487200	CV1225869	duplication	NM_014270.5(SLC7A9):c.749+121dup	not provided [RCV001618030]	benign	19	32860470	32860471	Human		name
150514207	CV1228107	single nucleotide variant	NM_014270.5(SLC7A9):c.705-139A>G	not provided [RCV001638385]	benign	19	32860789	32860789	Human		name
150442835	CV1232485	single nucleotide variant	NM_014270.5(SLC7A9):c.978-121C>T	not provided [RCV001645453]	benign	19	32844072	32844072	Human		name
150470915	CV1258693	single nucleotide variant	NM_014270.5(SLC7A9):c.236-112G>A	not provided [RCV001684239]	benign	19	32864450	32864450	Human		name
150446865	CV1261427	single nucleotide variant	NM_014270.5(SLC7A9):c.874-315C>T	not provided [RCV001680101]	benign	19	32858858	32858858	Human		name
150465840	CV1268676	single nucleotide variant	NM_014270.5(SLC7A9):c.874-266T>G	not provided [RCV001694372]	benign	19	32858809	32858809	Human		name
150464325	CV1276367	single nucleotide variant	NM_014270.5(SLC7A9):c.874-302T>C	not provided [RCV001710312]	benign	19	32858845	32858845	Human		name
150485293	CV1280700	single nucleotide variant	NM_014270.5(SLC7A9):c.1074+68C>T	not provided [RCV001715562]	benign	19	32843787	32843787	Human		name
150495509	CV1282967	single nucleotide variant	NM_014270.5(SLC7A9):c.874-227A>T	not provided [RCV001717393]	benign	19	32858770	32858770	Human		name
150514841	CV1285339	single nucleotide variant	NM_014270.5(SLC7A9):c.977+167C>T	not provided [RCV001722792]	benign	19	32858273	32858273	Human		name
150504487	CV1285967	single nucleotide variant	NM_014270.5(SLC7A9):c.1225-46A>G	not provided [RCV001719390]	benign	19	32833369	32833369	Human		name
150440537	CV1287197	single nucleotide variant	NM_014270.5(SLC7A9):c.1399+75C>A	not provided [RCV001725112]	benign	19	32833074	32833074	Human		name
152127960	CV1583692	single nucleotide variant	NM_014270.5(SLC7A9):c.1075-19C>A	not provided [RCV002198937]	likely benign	19	32842336	32842336	Human		name
405010639	CV2933610	single nucleotide variant	NM_014270.5(SLC7A9):c.1074+15C>T	not provided [RCV003576703]	likely benign	19	32843840	32843840	Human		name
11630950	CV348548	single nucleotide variant	NM_014270.5(SLC7A9):c.1074+14C>A	Cystinuria [RCV000363384]\|not provided [RCV002521202]	benign\|uncertain significance	19	32843841	32843841	Human	2	name
597929121	CV3816230	single nucleotide variant	NM_014270.5(SLC7A9):c.1074+17C>T	not provided [RCV005156811]	likely benign	19	32843838	32843838	Human		name
150510760	CV1210564	single nucleotide variant	NM_014270.5(SLC7A9):c.1224+122G>A	not provided [RCV001597743]	benign	19	32842046	32842046	Human		name
150512258	CV1212954	single nucleotide variant	NM_014270.5(SLC7A9):c.1400-185G>C	not provided [RCV001598186]	benign	19	32830869	32830869	Human		name
150463629	CV1214813	single nucleotide variant	NM_014270.5(SLC7A9):c.1400-127T>C	not provided [RCV001613808]	benign	19	32830811	32830811	Human		name
150445994	CV1233271	single nucleotide variant	NM_014270.5(SLC7A9):c.-111-240T>A	not provided [RCV001645944]	benign	19	32868885	32868885	Human		name
150451063	CV1276545	single nucleotide variant	NM_014270.5(SLC7A9):c.-111-281C>T	not provided [RCV001708334]	benign	19	32868926	32868926	Human		name
150514850	CV1285342	single nucleotide variant	NM_014270.5(SLC7A9):c.1224+246G>C	not provided [RCV001722795]	benign	19	32841922	32841922	Human		name
150406770	CV1178330	microsatellite	NM_014270.5(SLC7A9):c.874-257TAAA[9]	not provided [RCV001545364]	likely benign	19	32858768	32858769	Human		name
150333560	CV1169813	microsatellite	NM_014270.5(SLC7A9):c.874-257TAAA[11]	not provided [RCV001537394]	benign	19	32858768	32858769	Human		name
150457458	CV1202623	microsatellite	NM_014270.5(SLC7A9):c.874-257TAAA[10]	not provided [RCV001586276]	likely benign	19	32858768	32858769	Human		name
150441730	CV1246783	microsatellite	NM_014270.5(SLC7A9):c.874-257TAAA[12]	not provided [RCV001666437]	benign	19	32858768	32858769	Human		name
156100475	CV2107328	single nucleotide variant	NM_014270.5(SLC7A9):c.12T>C (p.Thr4=)	not provided [RCV002927032]	likely benign	19	32868523	32868523	Human		name
127242712	CV1106335	single nucleotide variant	NM_014270.5(SLC7A9):c.45G>A (p.Ser15=)	Cystinuria [RCV002495576]\|not provided [RCV001423800]	likely benign	19	32868490	32868490	Human	2	name
150458474	CV1202766	duplication	NM_014270.5(SLC7A9):c.87+198_87+199dup	not provided [RCV001586419]	likely benign	19	32868230	32868231	Human		name
150498771	CV1224193	microsatellite	NM_014270.5(SLC7A9):c.1075-310CAAAA[9]	not provided [RCV001620306]	benign	19	32842597	32842598	Human		name
150500356	CV1235905	microsatellite	NM_014270.5(SLC7A9):c.1075-310CAAAA[8]	not provided [RCV001656588]	benign	19	32842597	32842598	Human		name
150495558	CV1282984	deletion	NM_014270.5(SLC7A9):c.87+215_87+217del	not provided [RCV001717406]	benign	19	32868231	32868233	Human		name
150504717	CV1286013	deletion	NM_014270.5(SLC7A9):c.87+216_87+217del	not provided [RCV001719436]	benign	19	32868231	32868232	Human		name
152051471	CV1521444	microsatellite	NM_014270.5(SLC7A9):c.1075-9_1075-6del	not provided [RCV002145743]	likely benign	19	32842323	32842326	Human		name
155945500	CV2032696	single nucleotide variant	NM_014270.5(SLC7A9):c.45G>C (p.Ser15=)	not provided [RCV002730377]	likely benign	19	32868490	32868490	Human		name
10401444	CV205188	microsatellite	NM_014270.5(SLC7A9):c.1399+4_1399+7del	Cystinuria [RCV000190626]\|not provided [RCV001203696]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	19	32833142	32833145	Human		name
402468694	CV2930696	deletion	NM_014270.5(SLC7A9):c.23del (p.Lys8fs)	not provided [RCV003569962]	pathogenic	19	32868512	32868512	Human		name
11629392	CV349643	single nucleotide variant	NM_014270.5(SLC7A9):c.30A>G (p.Arg10=)	Cystinuria [RCV000322824]	uncertain significance	19	32868505	32868505	Human	2	name
597660827	CV3709477	single nucleotide variant	NM_014270.5(SLC7A9):c.1A>G (p.Met1Val)	Cystinuria [RCV005028466]	likely pathogenic	19	32868534	32868534	Human	2	name
597839545	CV3825009	deletion	NM_014270.5(SLC7A9):c.978-12_978-10del	not provided [RCV005171873]	uncertain significance	19	32843961	32843963	Human		name
127296378	CV1148676	single nucleotide variant	NM_014270.5(SLC7A9):c.147C>T (p.Phe49=)	not provided [RCV001497453]	likely benign	19	32864717	32864717	Human		name
150330778	CV1168736	single nucleotide variant	NM_014270.5(SLC7A9):c.225C>T (p.Leu75=)	Cystinuria [RCV001536102]	pathogenic\|likely pathogenic	19	32864639	32864639	Human	2	name
150407933	CV1178331	insertion	NM_014270.5(SLC7A9):c.87+199_87+200insC	not provided [RCV001545732]	likely benign	19	32868248	32868249	Human		name
150501134	CV1238323	microsatellite	NM_014270.5(SLC7A9):c.1075-310CAAAA[10]	not provided [RCV001656753]	benign	19	32842597	32842598	Human		name
150520788	CV1289905	single nucleotide variant	NM_014270.5(SLC7A9):c.120G>A (p.Val40=)	Cystinuria [RCV002272488]\|not provided [RCV001730281]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	19	32864744	32864744	Human	2	name
151722049	CV1389160	single nucleotide variant	NM_014270.5(SLC7A9):c.26G>A (p.Arg9Gln)	Cystinuria [RCV002498005]\|not provided [RCV002040228]	uncertain significance	19	32868509	32868509	Human	2	name
152115456	CV1654046	single nucleotide variant	NM_014270.5(SLC7A9):c.228G>A (p.Ala76=)	not provided [RCV002097417]	likely benign	19	32864636	32864636	Human		name
156124416	CV1953077	single nucleotide variant	NM_014270.5(SLC7A9):c.216C>T (p.Cys72=)	not provided [RCV002571989]	likely benign	19	32864648	32864648	Human		name
156367781	CV2113090	single nucleotide variant	NM_014270.5(SLC7A9):c.138T>A (p.Ser46=)	not provided [RCV002942086]	likely benign	19	32864726	32864726	Human		name
11522780	CV244022	deletion	NM_014270.5(SLC7A9):c.1224+4167_1324del	Cystinuria [RCV000234864]	pathogenic	19	32833224	32838001	Human	2	name
401908948	CV2803644	deletion	NM_014270.5(SLC7A9):c.65del (p.Lys22fs)	SLC7A9-related disorder [RCV003397731]	likely pathogenic	19	32868470	32868470	Human		name , trait , alternate_id
405067447	CV2875522	single nucleotide variant	NM_014270.5(SLC7A9):c.117C>T (p.Ile39=)	SLC7A9-related disorder [RCV003966472]\|not provided [RCV003548324]	likely benign	19	32864747	32864747	Human	1	name , trait , alternate_id
405147043	CV2881601	single nucleotide variant	NM_014270.5(SLC7A9):c.25C>T (p.Arg9Trp)	not provided [RCV003561442]	uncertain significance	19	32868510	32868510	Human		name
405257502	CV3189906	microsatellite	NM_014270.5(SLC7A9):c.1075-11_1075-9del	SLC7A9-related disorder [RCV003892281]	likely benign	19	32842326	32842328	Human		name , trait , alternate_id
11622227	CV343190	single nucleotide variant	NM_014270.5(SLC7A9):c.228G>C (p.Ala76=)	Cystinuria [RCV000357548]\|not provided [RCV000974308]	benign\|likely benign\|uncertain significance	19	32864636	32864636	Human	2	name
11626666	CV349642	single nucleotide variant	NM_014270.5(SLC7A9):c.183T>A (p.Ala61=)	Cystinuria [RCV000267532]\|SLC7A9-related disorder [RCV003957685]\|not provided [RCV001424262]	likely benign\|uncertain significance	19	32864681	32864681	Human	2	name , trait , alternate_id
408383295	CV3518381	deletion	NM_014270.5(SLC7A9):c.74del (p.Ser25fs)	Cystinuria [RCV004759704]	pathogenic	19	32868461	32868461	Human	2	name
597627489	CV3606780	single nucleotide variant	NM_014270.5(SLC7A9):c.171C>T (p.Ser57=)	Inborn genetic diseases [RCV004966501]	likely benign	19	32864693	32864693	Human	1	name
597660787	CV3709473	single nucleotide variant	NM_014270.5(SLC7A9):c.120G>T (p.Val40=)	Cystinuria [RCV005028462]	uncertain significance	19	32864744	32864744	Human	2	name
597914232	CV3771070	single nucleotide variant	NM_014270.5(SLC7A9):c.210G>A (p.Ala70=)	not provided [RCV005114188]	likely benign	19	32864654	32864654	Human		name
597886590	CV3800130	single nucleotide variant	NM_014270.5(SLC7A9):c.231G>A (p.Thr77=)	not provided [RCV005150610]	likely benign	19	32864633	32864633	Human		name
14396923	CV613126	single nucleotide variant	NM_014270.5(SLC7A9):c.201C>T (p.Ile67=)	not provided [RCV000762003]	conflicting interpretations of pathogenicity\|uncertain significance	19	32864663	32864663	Human		name
15102866	CV728096	single nucleotide variant	NM_014270.5(SLC7A9):c.252G>A (p.Ala84=)	SLC7A9-related disorder [RCV003930828]\|not provided [RCV000892563]	benign	19	32864322	32864322	Human	1	name , trait , alternate_id
28905385	CV880269	single nucleotide variant	NM_014270.5(SLC7A9):c.177G>A (p.Thr59=)	Cystinuria [RCV001126491]\|Inborn genetic diseases [RCV004032269]\|not provided [RCV002556754]	likely benign\|uncertain significance	19	32864687	32864687	Human	3	name
126924395	CV1051198	single nucleotide variant	NM_014270.5(SLC7A9):c.44C>T (p.Ser15Leu)	Cystinuria [RCV002476674]\|not provided [RCV001366982]	uncertain significance	19	32868491	32868491	Human	2	name
127273427	CV1064688	single nucleotide variant	NM_014270.5(SLC7A9):c.49C>T (p.Gln17Ter)	SLC7A9-related disorder [RCV003394026]\|not provided [RCV001390787]	pathogenic\|likely pathogenic	19	32868486	32868486	Human	1	name , trait , alternate_id
127243756	CV1084556	single nucleotide variant	NM_014270.5(SLC7A9):c.987C>T (p.Tyr329=)	not provided [RCV001393585]	likely benign	19	32843942	32843942	Human		name
127318534	CV1127735	single nucleotide variant	NM_014270.5(SLC7A9):c.468C>T (p.Ala156=)	Cystinuria [RCV002495680]\|not provided [RCV001466242]	likely benign	19	32864106	32864106	Human	2	name
127291250	CV1127736	single nucleotide variant	NM_014270.5(SLC7A9):c.414G>A (p.Ala138=)	not provided [RCV001458662]	likely benign	19	32864160	32864160	Human		name
152109864	CV1585913	single nucleotide variant	NM_014270.5(SLC7A9):c.843C>T (p.Thr281=)	not provided [RCV002134343]	likely benign	19	32859871	32859871	Human		name
152054546	CV1610010	single nucleotide variant	NM_014270.5(SLC7A9):c.561C>T (p.Ile187=)	not provided [RCV002167270]	likely benign	19	32862504	32862504	Human		name
152074871	CV1652829	single nucleotide variant	NM_014270.5(SLC7A9):c.864G>A (p.Ala288=)	Cystinuria [RCV002505815]\|not provided [RCV002148566]	likely benign	19	32859850	32859850	Human	2	name
152090732	CV1654899	single nucleotide variant	NM_014270.5(SLC7A9):c.837T>G (p.Thr279=)	not provided [RCV002212687]	likely benign	19	32859877	32859877	Human		name
152123444	CV1664585	single nucleotide variant	NM_014270.5(SLC7A9):c.492A>G (p.Thr164=)	not provided [RCV002154554]	benign	19	32862573	32862573	Human		name
156375743	CV1930453	single nucleotide variant	NM_014270.5(SLC7A9):c.465C>T (p.Ala155=)	not provided [RCV002633817]	likely benign	19	32864109	32864109	Human		name
155911717	CV2021677	single nucleotide variant	NM_014270.5(SLC7A9):c.678C>T (p.Tyr226=)	not provided [RCV002726855]	likely benign	19	32862144	32862144	Human		name
156185663	CV2102656	single nucleotide variant	NM_014270.5(SLC7A9):c.573C>A (p.Ile191=)	SLC7A9-related disorder [RCV003906278]\|not provided [RCV002917289]	benign\|likely benign	19	32862492	32862492	Human	1	name , trait , alternate_id
156221718	CV2107353	single nucleotide variant	NM_014270.5(SLC7A9):c.795G>A (p.Ala265=)	not provided [RCV002918593]	likely benign	19	32859919	32859919	Human		name
156308697	CV2109349	single nucleotide variant	NM_014270.5(SLC7A9):c.525C>T (p.Tyr175=)	not provided [RCV002922949]	likely benign	19	32862540	32862540	Human		name
155934816	CV2114053	single nucleotide variant	NM_014270.5(SLC7A9):c.471C>T (p.Ala157=)	not provided [RCV002904055]	likely benign	19	32864103	32864103	Human		name
156108898	CV2121049	single nucleotide variant	NM_014270.5(SLC7A9):c.828C>T (p.Thr276=)	not provided [RCV002953030]	likely benign	19	32859886	32859886	Human		name
156358133	CV2162191	single nucleotide variant	NM_014270.5(SLC7A9):c.94C>T (p.Leu32Phe)	not provided [RCV003031374]	uncertain significance	19	32864770	32864770	Human		name
402502415	CV2869325	single nucleotide variant	NM_014270.5(SLC7A9):c.543C>T (p.Thr181=)	not provided [RCV003546044]	likely benign	19	32862522	32862522	Human		name
405214721	CV2875974	single nucleotide variant	NM_014270.5(SLC7A9):c.942C>T (p.Ile314=)	not provided [RCV003553067]	likely benign	19	32858475	32858475	Human		name
405166230	CV2902258	single nucleotide variant	NM_014270.5(SLC7A9):c.546G>A (p.Ala182=)	Cystinuria [RCV005030122]\|not provided [RCV003562765]	likely benign\|uncertain significance	19	32862519	32862519	Human	2	name
405066495	CV2923742	single nucleotide variant	NM_014270.5(SLC7A9):c.483C>T (p.Phe161=)	SLC7A9-related disorder [RCV003956445]\|not provided [RCV003580847]	benign\|likely benign	19	32862582	32862582	Human	1	name , trait , alternate_id
405036767	CV3016847	single nucleotide variant	NM_014270.5(SLC7A9):c.993G>A (p.Ala331=)	not provided [RCV003696004]	likely benign	19	32843936	32843936	Human		name
405122539	CV3126273	single nucleotide variant	NM_014270.5(SLC7A9):c.873G>A (p.Val291=)	not provided [RCV003815025]	uncertain significance	19	32859841	32859841	Human		name
405079472	CV3156355	single nucleotide variant	NM_014270.5(SLC7A9):c.585G>C (p.Gly195=)	not provided [RCV003851413]	likely benign	19	32862480	32862480	Human		name
405258660	CV3194096	single nucleotide variant	NM_014270.5(SLC7A9):c.489G>A (p.Ser163=)	SLC7A9-related disorder [RCV003893678]	likely benign	19	32862576	32862576	Human		name , trait , alternate_id
11616653	CV333077	single nucleotide variant	NM_014270.5(SLC7A9):c.507C>T (p.Ser169=)	Cystinuria [RCV000296744]\|not provided [RCV001510156]	benign\|likely benign	19	32862558	32862558	Human	2	name
11622961	CV333082	single nucleotide variant	NM_014270.5(SLC7A9):c.399C>T (p.Ser133=)	Cystinuria [RCV000366595]\|not provided [RCV001514098]	benign\|likely benign	19	32864175	32864175	Human	3	name
11622961	CV333082	single nucleotide variant	NM_014270.5(SLC7A9):c.399C>T (p.Ser133=)	Cystinuria [RCV000366595]\|not provided [RCV001514098]	benign\|likely benign	19	32864175	32864176	Human	3	name
11645300	CV343175	single nucleotide variant	NM_014270.5(SLC7A9):c.780C>T (p.Ile260=)	Cystinuria [RCV000264910]	uncertain significance	19	32859934	32859934	Human	2	name
11619368	CV343176	single nucleotide variant	NM_014270.5(SLC7A9):c.723C>T (p.Ile241=)	Cystinuria [RCV000324815]\|not provided [RCV001441701]	likely benign\|uncertain significance	19	32860632	32860632	Human	2	name
11632297	CV348552	single nucleotide variant	NM_014270.5(SLC7A9):c.522C>T (p.Ser174=)	Cystinuria [RCV000404404]\|not provided [RCV002523058]	benign\|uncertain significance	19	32862543	32862543	Human	2	name
11628679	CV348553	single nucleotide variant	NM_014270.5(SLC7A9):c.411T>C (p.Cys137=)	Cystinuria [RCV000307208]\|not provided [RCV001514097]	benign\|likely benign	19	32864163	32864163	Human	2	name
11631476	CV349637	single nucleotide variant	NM_014270.5(SLC7A9):c.687C>T (p.Leu229=)	Cystinuria [RCV000379365]\|not provided [RCV001510153]\|not specified [RCV001529771]	benign\|likely benign	19	32862135	32862135	Human	3	name
11631476	CV349637	single nucleotide variant	NM_014270.5(SLC7A9):c.687C>T (p.Leu229=)	Cystinuria [RCV000379365]\|not provided [RCV001510153]\|not specified [RCV001529771]	benign\|likely benign	19	32862135	32862136	Human	3	name
11631952	CV349641	single nucleotide variant	NM_014270.5(SLC7A9):c.324C>T (p.Pro108=)	Cystinuria [RCV000394263]\|not provided [RCV002057490]	likely benign\|uncertain significance	19	32864250	32864250	Human	2	name
408383313	CV3518391	duplication	NM_014270.5(SLC7A9):c.220dup (p.Val74fs)	Cystinuria [RCV004759714]	pathogenic	19	32864643	32864644	Human	2	name
597660797	CV3709474	single nucleotide variant	NM_014270.5(SLC7A9):c.48C>G (p.Ile16Met)	Cystinuria [RCV005028463]	uncertain significance	19	32868487	32868487	Human	2	name
597660805	CV3709475	single nucleotide variant	NM_014270.5(SLC7A9):c.44C>G (p.Ser15Trp)	Cystinuria [RCV005028464]	uncertain significance	19	32868491	32868491	Human	2	name
597660818	CV3709476	single nucleotide variant	NM_014270.5(SLC7A9):c.43T>A (p.Ser15Thr)	Cystinuria [RCV005028465]	uncertain significance	19	32868492	32868492	Human	2	name
597949307	CV3772321	single nucleotide variant	NM_014270.5(SLC7A9):c.870T>C (p.Ala290=)	not provided [RCV005120640]	likely benign	19	32859844	32859844	Human		name
597879213	CV3786851	single nucleotide variant	NM_014270.5(SLC7A9):c.71C>A (p.Thr24Asn)	not provided [RCV005123927]	uncertain significance	19	32868464	32868464	Human		name
597961222	CV3794859	single nucleotide variant	NM_014270.5(SLC7A9):c.513G>T (p.Arg171=)	not provided [RCV005138764]	likely benign	19	32862552	32862552	Human		name
597863666	CV3814061	single nucleotide variant	NM_014270.5(SLC7A9):c.636G>A (p.Glu212=)	not provided [RCV005147130]	likely benign	19	32862186	32862186	Human		name
597963244	CV3841457	single nucleotide variant	NM_014270.5(SLC7A9):c.354C>A (p.Ile118=)	not provided [RCV005193561]	likely benign	19	32864220	32864220	Human		name
13799248	CV553616	deletion	NM_014270.5(SLC7A9):c.141del (p.Ile48fs)	not provided [RCV000681906]	likely pathogenic	19	32864723	32864723	Human		name
28908955	CV880263	single nucleotide variant	NM_014270.5(SLC7A9):c.972G>A (p.Ala324=)	Cystinuria [RCV001128454]\|not provided [RCV001513236]	benign\|uncertain significance	19	32858445	32858445	Human	2	name
28908959	CV880264	single nucleotide variant	NM_014270.5(SLC7A9):c.813C>T (p.Asn271=)	Cystinuria [RCV001128456]	uncertain significance	19	32859901	32859901	Human	2	name
28896214	CV880265	single nucleotide variant	NM_014270.5(SLC7A9):c.639C>T (p.Gly213=)	Cystinuria [RCV001122758]\|not provided [RCV005093558]	likely benign\|uncertain significance	19	32862183	32862183	Human	2	name
28899162	CV880268	single nucleotide variant	NM_014270.5(SLC7A9):c.369G>A (p.Thr123=)	Cystinuria [RCV001123846]\|not provided [RCV005093567]	likely benign\|uncertain significance	19	32864205	32864205	Human	2	name
126757352	CV1034204	single nucleotide variant	NM_014270.5(SLC7A9):c.205T>C (p.Trp69Arg)	Cystinuria [RCV005394956]\|not provided [RCV001339541]	uncertain significance	19	32864659	32864659	Human	2	name
127244097	CV1064687	duplication	NM_014270.5(SLC7A9):c.501dup (p.Leu168fs)	not provided [RCV001384134]	pathogenic	19	32862563	32862564	Human		name
150330576	CV1168737	single nucleotide variant	NM_014270.5(SLC7A9):c.209C>T (p.Ala70Val)	Cystinuria [RCV001535874]\|not provided [RCV001873796]	likely pathogenic	19	32864655	32864655	Human	2	name
151835397	CV1420240	single nucleotide variant	NM_014270.5(SLC7A9):c.176C>T (p.Thr59Met)	Cystinuria [RCV002507759]\|not provided [RCV001977084]	uncertain significance	19	32864688	32864688	Human	2	name
151885611	CV1432103	single nucleotide variant	NM_014270.5(SLC7A9):c.157A>T (p.Lys53Ter)	not provided [RCV002037797]	pathogenic	19	32864707	32864707	Human		name
152031925	CV1546172	single nucleotide variant	NM_014270.5(SLC7A9):c.1182C>T (p.Ile394=)	Cystinuria [RCV002508020]\|Inborn genetic diseases [RCV004965774]\|not provided [RCV002124658]	benign\|likely benign	19	32842210	32842210	Human	3	name
152999284	CV1679726	deletion	NM_014270.5(SLC7A9):c.730del (p.Glu244fs)	Cystinuria [RCV002251115]	pathogenic	19	32860625	32860625	Human	2	name
156346994	CV1868422	single nucleotide variant	NM_014270.5(SLC7A9):c.217G>A (p.Gly73Arg)	Cystinuria [RCV005028143]\|SLC7A9-related disorder [RCV003418723]\|not provided [RCV003064572]	likely pathogenic\|uncertain significance	19	32864647	32864647	Human	2	name , trait , alternate_id
156181644	CV1868423	single nucleotide variant	NM_014270.5(SLC7A9):c.193T>C (p.Cys65Arg)	not provided [RCV003041363]	uncertain significance	19	32864671	32864671	Human		name
156051563	CV1923933	single nucleotide variant	NM_014270.5(SLC7A9):c.1329T>C (p.Phe443=)	not provided [RCV002637956]	likely benign	19	32833219	32833219	Human		name
156213574	CV1930759	single nucleotide variant	NM_014270.5(SLC7A9):c.226G>A (p.Ala76Thr)	not provided [RCV002644099]	uncertain significance	19	32864638	32864638	Human		name
156316842	CV2028107	single nucleotide variant	NM_014270.5(SLC7A9):c.218G>A (p.Gly73Glu)	not provided [RCV002716849]	uncertain significance	19	32864646	32864646	Human		name
156280152	CV2074697	single nucleotide variant	NM_014270.5(SLC7A9):c.1323G>A (p.Val441=)	not provided [RCV002856353]	likely benign	19	32833225	32833225	Human		name
8558924	CV20825	duplication	NM_014270.5(SLC7A9):c.335dup (p.Ser113fs)	Cystinuria [RCV000006142]	pathogenic	19	32864238	32864239	Human	2	name
8596913	CV20827	single nucleotide variant	NM_014270.5(SLC7A9):c.131T>C (p.Ile44Thr)	Cystinuria [RCV000006144]	pathogenic	19	32864733	32864733	Human	2	name
156139554	CV2116581	single nucleotide variant	NM_014270.5(SLC7A9):c.1167G>A (p.Thr389=)	not provided [RCV002914855]	likely benign	19	32842225	32842225	Human		name
156150111	CV2124804	single nucleotide variant	NM_014270.5(SLC7A9):c.1242C>T (p.Pro414=)	not provided [RCV002928872]	likely benign	19	32833306	32833306	Human		name
243062558	CV2405032	single nucleotide variant	NM_014270.5(SLC7A9):c.206G>A (p.Trp69Ter)	Cystinuria [RCV003140582]	pathogenic	19	32864658	32864658	Human	2	name
243060716	CV2408694	single nucleotide variant	NM_014270.5(SLC7A9):c.251C>T (p.Ala84Val)	Cystinuria [RCV003136824]\|not provided [RCV005099342]	uncertain significance	19	32864323	32864323	Human	2	name
11632775	CV272434	duplication	NM_014270.5(SLC7A9):c.614dup (p.Asn206fs)	Cystinuria [RCV000286788]\|SLC7A9-related disorder [RCV003417906]\|not provided [RCV000788761]	pathogenic	19	32862207	32862208	Human	2	name , trait , alternate_id
401937185	CV2811957	single nucleotide variant	NM_014270.5(SLC7A9):c.230C>T (p.Thr77Met)	Cystinuria [RCV005030029]\|not provided [RCV003415182]	likely benign\|uncertain significance	19	32864634	32864634	Human	2	name
405110953	CV2906807	single nucleotide variant	NM_014270.5(SLC7A9):c.1446G>C (p.Pro482=)	not provided [RCV003557887]	likely benign	19	32830638	32830638	Human		name
402507527	CV2944478	single nucleotide variant	NM_014270.5(SLC7A9):c.185T>C (p.Val62Ala)	not provided [RCV003662217]	uncertain significance	19	32864679	32864679	Human		name
405036753	CV3016846	single nucleotide variant	NM_014270.5(SLC7A9):c.1290C>T (p.Ile430=)	not provided [RCV003696003]	likely benign	19	32833258	32833258	Human		name
405179802	CV3148825	single nucleotide variant	NM_014270.5(SLC7A9):c.217G>C (p.Gly73Arg)	Cystinuria [RCV005030326]\|not provided [RCV003858603]	pathogenic\|uncertain significance	19	32864647	32864647	Human	2	name
11618275	CV333055	single nucleotide variant	NM_014270.5(SLC7A9):c.1338C>T (p.Ser446=)	Cystinuria [RCV000312128]\|not provided [RCV002521201]	likely benign\|uncertain significance	19	32833210	32833210	Human	2	name
11618384	CV333057	single nucleotide variant	NM_014270.5(SLC7A9):c.1143C>T (p.Ala381=)	Cystinuria [RCV000313507]\|not provided [RCV001510152]\|not specified [RCV001529902]	benign\|likely benign	19	32842249	32842249	Human	2	name
407515745	CV3481131	single nucleotide variant	NM_014270.5(SLC7A9):c.101G>A (p.Ser34Asn)	Inborn genetic diseases [RCV004675038]	uncertain significance	19	32864763	32864763	Human	1	name
11627155	CV349634	single nucleotide variant	NM_014270.5(SLC7A9):c.1161C>T (p.Gly387=)	Cystinuria [RCV000277108]\|not provided [RCV001520104]	benign\|uncertain significance	19	32842231	32842231	Human	2	name
11626748	CV349636	single nucleotide variant	NM_014270.5(SLC7A9):c.1059C>T (p.Pro353=)	Cystinuria [RCV000268882]\|SLC7A9-related disorder [RCV003940308]\|not provided [RCV000882336]	benign\|likely benign\|uncertain significance	19	32843870	32843870	Human	2	name , trait , alternate_id
408380806	CV3501277	single nucleotide variant	NM_014270.5(SLC7A9):c.288G>T (p.Glu96Asp)	not provided [RCV004727366]	uncertain significance	19	32864286	32864286	Human		name
408383296	CV3518382	single nucleotide variant	NM_014270.5(SLC7A9):c.227C>T (p.Ala76Val)	Cystinuria [RCV004759705]	likely pathogenic	19	32864637	32864637	Human	2	name
408383299	CV3518383	single nucleotide variant	NM_014270.5(SLC7A9):c.133G>C (p.Gly45Arg)	Cystinuria [RCV004759706]	likely pathogenic	19	32864731	32864731	Human	2	name
408383318	CV3518393	deletion	NM_014270.5(SLC7A9):c.785del (p.Leu262fs)	Cystinuria [RCV004759716]	pathogenic	19	32859929	32859929	Human	2	name
597660487	CV3709438	single nucleotide variant	NM_014270.5(SLC7A9):c.1032C>T (p.Ile344=)	Cystinuria [RCV005028426]	likely pathogenic	19	32843897	32843897	Human	2	name
597660677	CV3709460	deletion	NM_014270.5(SLC7A9):c.471del (p.Ala158fs)	Cystinuria [RCV005028450]	likely pathogenic	19	32864103	32864103	Human	2	name
597660722	CV3709465	single nucleotide variant	NM_014270.5(SLC7A9):c.229A>C (p.Thr77Pro)	Cystinuria [RCV005028455]	uncertain significance	19	32864635	32864635	Human	2	name
597660732	CV3709467	single nucleotide variant	NM_014270.5(SLC7A9):c.221T>A (p.Val74Asp)	Cystinuria [RCV005028456]	uncertain significance	19	32864643	32864643	Human	2	name
597660742	CV3709468	single nucleotide variant	NM_014270.5(SLC7A9):c.204A>G (p.Ile68Met)	Cystinuria [RCV005028457]	uncertain significance	19	32864660	32864660	Human	2	name
597660750	CV3709469	single nucleotide variant	NM_014270.5(SLC7A9):c.187G>C (p.Gly63Arg)	Cystinuria [RCV005028458]	uncertain significance	19	32864677	32864677	Human	2	name
597660760	CV3709470	single nucleotide variant	NM_014270.5(SLC7A9):c.184G>A (p.Val62Met)	Cystinuria [RCV005028459]	uncertain significance	19	32864680	32864680	Human	2	name
597660770	CV3709471	single nucleotide variant	NM_014270.5(SLC7A9):c.163G>C (p.Val55Leu)	Cystinuria [RCV005028460]	uncertain significance	19	32864701	32864701	Human	2	name
597660779	CV3709472	single nucleotide variant	NM_014270.5(SLC7A9):c.148G>A (p.Val50Ile)	Cystinuria [RCV005028461]\|not provided [RCV005112707]	uncertain significance	19	32864716	32864716	Human	2	name
597885058	CV3741638	single nucleotide variant	NM_014270.5(SLC7A9):c.1065C>T (p.Ile355=)	not provided [RCV005070357]	uncertain significance	19	32843864	32843864	Human		name
617149815	CV4017344	single nucleotide variant	NM_014270.5(SLC7A9):c.291T>A (p.Tyr97Ter)	not provided [RCV005417001]	likely pathogenic	19	32864283	32864283	Human		name
15141823	CV716354	single nucleotide variant	NM_014270.5(SLC7A9):c.1119G>A (p.Ser373=)	Cystinuria [RCV001126409]\|not provided [RCV000966370]	benign\|likely benign	19	32842273	32842273	Human	2	name
21067047	CV792553	single nucleotide variant	NM_014270.5(SLC7A9):c.236G>T (p.Gly79Val)	Cystine urolithiasis [RCV000991114]	uncertain significance	19	32864338	32864338	Human	1	name
21067059	CV792554	single nucleotide variant	NM_014270.5(SLC7A9):c.151T>C (p.Ser51Pro)	Cystine urolithiasis [RCV000991120]\|Cystinuria [RCV004761854]	pathogenic\|likely pathogenic	19	32864713	32864713	Human	2	name
28898880	CV880255	single nucleotide variant	NM_014270.5(SLC7A9):c.1446G>A (p.Pro482=)	Cystinuria [RCV001123744]\|not provided [RCV003688908]	likely benign\|uncertain significance	19	32830638	32830638	Human	2	name
28898882	CV880256	single nucleotide variant	NM_014270.5(SLC7A9):c.1404G>A (p.Pro468=)	Cystinuria [RCV001123745]\|not provided [RCV001485629]	likely benign\|uncertain significance	19	32830680	32830680	Human	2	name
28898892	CV880259	single nucleotide variant	NM_014270.5(SLC7A9):c.1365C>T (p.Val455=)	Cystinuria [RCV001123748]\|not provided [RCV001513478]	benign\|likely benign	19	32833183	32833183	Human	2	name
28905230	CV880260	single nucleotide variant	NM_014270.5(SLC7A9):c.1276C>T (p.Leu426=)	Cystinuria [RCV001126406]	uncertain significance	19	32833272	32833272	Human	2	name
28905233	CV880261	single nucleotide variant	NM_014270.5(SLC7A9):c.1242C>A (p.Pro414=)	Cystinuria [RCV001126407]	uncertain significance	19	32833306	32833306	Human	2	name
126741037	CV1013646	single nucleotide variant	NM_014270.5(SLC7A9):c.364C>A (p.Pro122Thr)	not provided [RCV001314461]	uncertain significance	19	32864210	32864210	Human		name
126912986	CV1038705	single nucleotide variant	NM_014270.5(SLC7A9):c.466G>A (p.Ala156Thr)	Cystinuria [RCV002493828]\|not provided [RCV001356954]	uncertain significance	19	32864108	32864108	Human	2	name
127247530	CV1056558	single nucleotide variant	NM_014270.5(SLC7A9):c.604G>C (p.Gly202Arg)	not provided [RCV001377794]	likely pathogenic	19	32862461	32862461	Human		name
150514843	CV1285340	duplication	NM_014270.5(SLC7A9):c.1400-129_1400-128dup	not provided [RCV001722793]	benign	19	32830811	32830812	Human		name
151235729	CV1318993	single nucleotide variant	NM_014270.5(SLC7A9):c.348C>G (p.Ser116Arg)	Cystinuria [RCV001795809]	uncertain significance	19	32864226	32864226	Human	2	name
151851238	CV1386110	single nucleotide variant	NM_014270.5(SLC7A9):c.376G>A (p.Ala126Thr)	Cystinuria [RCV005023319]\|not provided [RCV001937378]	pathogenic\|likely pathogenic\|uncertain significance	19	32864198	32864198	Human	2	name
151829799	CV1405295	single nucleotide variant	NM_014270.5(SLC7A9):c.814G>A (p.Val272Met)	Cystinuria [RCV002484408]\|not provided [RCV001901693]	uncertain significance	19	32859900	32859900	Human	2	name
9686735	CV171225	single nucleotide variant	NM_014270.5(SLC7A9):c.988G>A (p.Val330Met)	Cystinuria [RCV000148888]\|not provided [RCV001850020]	uncertain significance	19	32843941	32843941	Human	2	name
156410556	CV1882584	single nucleotide variant	NM_014270.5(SLC7A9):c.943G>A (p.Gly315Ser)	not provided [RCV003072115]	uncertain significance	19	32858474	32858474	Human		name
156306346	CV1898659	single nucleotide variant	NM_014270.5(SLC7A9):c.547G>T (p.Ala183Ser)	not provided [RCV003088196]	uncertain significance	19	32862518	32862518	Human		name
156419312	CV1923329	single nucleotide variant	NM_014270.5(SLC7A9):c.547G>A (p.Ala183Thr)	not provided [RCV002612540]	uncertain significance	19	32862518	32862518	Human		name
156282413	CV2042920	single nucleotide variant	NM_014270.5(SLC7A9):c.322C>T (p.Pro108Ser)	not provided [RCV002770435]	uncertain significance	19	32864252	32864252	Human		name
8596907	CV20819	single nucleotide variant	NM_014270.5(SLC7A9):c.508G>A (p.Val170Met)	Cystinuria [RCV000006136]	pathogenic	19	32862557	32862557	Human	2	name
8596908	CV20820	single nucleotide variant	NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)	Cystinuria [RCV000006137]\|SLC7A9-related disorder [RCV004752686]\|not provided [RCV000523825]	pathogenic\|likely pathogenic	19	32864261	32864261	Human	2	name , trait , alternate_id
8596909	CV20821	single nucleotide variant	NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)	Cystinuria [RCV000006138]\|Inborn genetic diseases [RCV004018572]\|SLC7A9-related disorder [RCV004752687]\|not provided [RCV000480556]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters	19	32862521	32862521	Human	5	name , trait , alternate_id
8596909	CV20821	single nucleotide variant	NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)	Cystinuria [RCV000006138]\|Inborn genetic diseases [RCV004018572]\|SLC7A9-related disorder [RCV004752687]\|not provided [RCV000480556]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters	19	32862521	32862522	Human	5	name , trait , alternate_id
8596910	CV20822	single nucleotide variant	NM_014270.5(SLC7A9):c.583G>A (p.Gly195Arg)	Cystinuria [RCV000006139]	pathogenic\|likely pathogenic	19	32862482	32862482	Human	2	name
8596911	CV20823	single nucleotide variant	NM_014270.5(SLC7A9):c.775G>A (p.Gly259Arg)	Cystinuria [RCV000006140]\|not provided [RCV000793254]	pathogenic\|likely pathogenic	19	32859939	32859939	Human	2	name
8596912	CV20826	single nucleotide variant	NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp)	Cystinuria [RCV000006143]\|SLC7A9-related disorder [RCV003398451]\|not provided [RCV000801232]	pathogenic\|likely pathogenic	19	32843932	32843932	Human	2	name , trait , alternate_id
8596914	CV20828	single nucleotide variant	NM_014270.5(SLC7A9):c.782C>T (p.Pro261Leu)	Cystinuria [RCV000006145]\|not provided [RCV002512819]	pathogenic\|uncertain significance	19	32859932	32859932	Human	2	name
8596915	CV20830	single nucleotide variant	NM_014270.5(SLC7A9):c.695A>G (p.Tyr232Cys)	Cystinuria [RCV000006147]\|not provided [RCV002512820]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	19	32862127	32862127	Human	2	name
8596916	CV20832	single nucleotide variant	NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met)	Cystinuria [RCV000006149]\|not provided [RCV001390782]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	19	32864206	32864206	Human	2	name
243060717	CV2408695	single nucleotide variant	NM_014270.5(SLC7A9):c.547G>C (p.Ala183Pro)	Cystinuria [RCV003136825]	uncertain significance	19	32862518	32862518	Human	2	name
243060718	CV2408696	single nucleotide variant	NM_014270.5(SLC7A9):c.512G>A (p.Arg171Gln)	Cystinuria [RCV003136826]\|not provided [RCV003548986]	uncertain significance	19	32862553	32862553	Human	2	name
243049387	CV2419431	single nucleotide variant	NM_014270.5(SLC7A9):c.878T>C (p.Phe293Ser)	Cystinuria [RCV003156165]	uncertain significance	19	32858539	32858539	Human	2	name
329847788	CV2524538	single nucleotide variant	NM_014270.5(SLC7A9):c.698A>T (p.Asp233Val)	not provided [RCV003227430]	uncertain significance	19	32862124	32862124	Human		name
401870723	CV2792484	single nucleotide variant	NM_014270.5(SLC7A9):c.334T>C (p.Phe112Leu)	Inborn genetic diseases [RCV003381334]	uncertain significance	19	32864240	32864240	Human	1	name
401919013	CV2798134	duplication	NM_014270.5(SLC7A9):c.1080dup (p.Ile361fs)	SLC7A9-related disorder [RCV003402182]	likely pathogenic	19	32842311	32842312	Human		name , trait , alternate_id
401931858	CV2801457	single nucleotide variant	NM_014270.5(SLC7A9):c.910A>C (p.Ile304Leu)	SLC7A9-related disorder [RCV003391533]	uncertain significance	19	32858507	32858507	Human		name , trait , alternate_id
401941742	CV2839478	single nucleotide variant	NM_014270.5(SLC7A9):c.488C>A (p.Ser163Ter)	Cystinuria [RCV003455848]	likely pathogenic	19	32862577	32862577	Human	2	name
401961270	CV2844655	single nucleotide variant	NM_014270.5(SLC7A9):c.459C>A (p.Cys153Ter)	not provided [RCV003480452]	pathogenic	19	32864115	32864115	Human		name
402513736	CV2855443	single nucleotide variant	NM_014270.5(SLC7A9):c.398C>G (p.Ser133Cys)	not provided [RCV003547231]	uncertain significance	19	32864176	32864176	Human		name
405220036	CV2884112	single nucleotide variant	NM_014270.5(SLC7A9):c.545C>T (p.Ala182Val)	not provided [RCV003553743]	uncertain significance	19	32862520	32862520	Human		name
405240144	CV2892742	single nucleotide variant	NM_014270.5(SLC7A9):c.562G>A (p.Val188Met)	not provided [RCV003557232]	pathogenic	19	32862503	32862503	Human		name
405188756	CV2977894	single nucleotide variant	NM_014270.5(SLC7A9):c.376G>C (p.Ala126Pro)	not provided [RCV003706269]	uncertain significance	19	32864198	32864198	Human		name
405042524	CV3154105	single nucleotide variant	NM_014270.5(SLC7A9):c.774C>G (p.Ile258Met)	not provided [RCV003848973]	uncertain significance	19	32859940	32859940	Human		name
405289716	CV3221053	single nucleotide variant	NM_014270.5(SLC7A9):c.520A>G (p.Ser174Gly)	SLC7A9-related disorder [RCV003961891]	uncertain significance	19	32862545	32862545	Human		name , trait , alternate_id
11619660	CV333070	single nucleotide variant	NM_014270.5(SLC7A9):c.922T>C (p.Phe308Leu)	Cystinuria [RCV000328187]	uncertain significance	19	32858495	32858495	Human	2	name
11614770	CV333073	single nucleotide variant	NM_014270.5(SLC7A9):c.667C>A (p.Leu223Met)	Cystinuria [RCV000279862]\|not provided [RCV001510154]\|not specified [RCV001528729]	benign\|likely benign	19	32862155	32862155	Human	2	name
11617295	CV333085	single nucleotide variant	NM_014270.5(SLC7A9):c.302T>A (p.Met101Lys)	Cystinuria [RCV000302805]	uncertain significance	19	32864272	32864272	Human	2	name
407456520	CV3415913	single nucleotide variant	NM_014270.5(SLC7A9):c.469G>A (p.Ala157Thr)	not provided [RCV004598790]	uncertain significance	19	32864105	32864105	Human		name
11625040	CV343185	single nucleotide variant	NM_014270.5(SLC7A9):c.425T>C (p.Val142Ala)	Cystinuria [RCV000394269]\|not provided [RCV001514096]\|not specified [RCV001529903]	benign\|likely benign	19	32864149	32864149	Human	2	name
11661584	CV348551	single nucleotide variant	NM_014270.5(SLC7A9):c.827C>T (p.Thr276Ile)	Cystinuria [RCV000378115]\|not provided [RCV003546533]	uncertain significance	19	32859887	32859887	Human	2	name
11630477	CV349638	single nucleotide variant	NM_014270.5(SLC7A9):c.526G>A (p.Val176Ile)	Cystinuria [RCV000350570]\|not provided [RCV002523057]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	32862539	32862539	Human	2	name
408383301	CV3518384	single nucleotide variant	NM_014270.5(SLC7A9):c.766A>G (p.Ile256Val)	Cystinuria [RCV004759707]	likely pathogenic	19	32859948	32859948	Human	2	name
408383306	CV3518386	single nucleotide variant	NM_014270.5(SLC7A9):c.998G>A (p.Arg333Gln)	Cystinuria [RCV004759709]	likely pathogenic	19	32843931	32843931	Human	2	name
408383308	CV3518387	single nucleotide variant	NM_014270.5(SLC7A9):c.422A>C (p.Tyr141Ser)	Cystinuria [RCV004759710]	likely pathogenic	19	32864152	32864152	Human	2	name
408383311	CV3518390	single nucleotide variant	NM_014270.5(SLC7A9):c.409T>C (p.Cys137Arg)	Cystinuria [RCV004759713]	likely pathogenic	19	32864165	32864165	Human	2	name
596923523	CV3535976	single nucleotide variant	NM_014270.5(SLC7A9):c.749G>A (p.Arg250Lys)	Cystinuria [RCV004788406]	likely pathogenic	19	32860606	32860606	Human	2	name
596924392	CV3536560	single nucleotide variant	NM_014270.5(SLC7A9):c.584G>A (p.Gly195Glu)	Cystinuria [RCV004789969]	pathogenic	19	32862481	32862481	Human	2	name
596942825	CV3544215	single nucleotide variant	NM_014270.5(SLC7A9):c.340T>A (p.Trp114Arg)	not specified [RCV004800208]	uncertain significance	19	32864234	32864234	Human		name
597660431	CV3709430	deletion	NM_014270.5(SLC7A9):c.1137del (p.Phe380fs)	Cystinuria [RCV005028419]	likely pathogenic	19	32842255	32842255	Human	2	name
597660503	CV3709440	deletion	NM_014270.5(SLC7A9):c.1017del (p.Val340fs)	Cystinuria [RCV005028428]	likely pathogenic	19	32843912	32843912	Human	2	name
597660512	CV3709441	single nucleotide variant	NM_014270.5(SLC7A9):c.958A>G (p.Thr320Ala)	Cystinuria [RCV005028429]	uncertain significance	19	32858459	32858459	Human	2	name
597660521	CV3709442	single nucleotide variant	NM_014270.5(SLC7A9):c.892C>G (p.Leu298Val)	Cystinuria [RCV005028430]	uncertain significance	19	32858525	32858525	Human	2	name
597660529	CV3709443	single nucleotide variant	NM_014270.5(SLC7A9):c.872T>C (p.Val291Ala)	Cystinuria [RCV005028431]	uncertain significance	19	32859842	32859842	Human	2	name
597660537	CV3709444	single nucleotide variant	NM_014270.5(SLC7A9):c.802A>G (p.Ile268Val)	Cystinuria [RCV005028432]	uncertain significance	19	32859912	32859912	Human	2	name
597660545	CV3709445	single nucleotide variant	NM_014270.5(SLC7A9):c.794C>T (p.Ala265Val)	Cystinuria [RCV005028433]\|not provided [RCV005112703]	likely benign\|uncertain significance	19	32859920	32859920	Human	2	name
597660553	CV3709446	single nucleotide variant	NM_014270.5(SLC7A9):c.784C>G (p.Leu262Val)	Cystinuria [RCV005028434]	uncertain significance	19	32859930	32859930	Human	2	name
597660582	CV3709448	single nucleotide variant	NM_014270.5(SLC7A9):c.722T>C (p.Ile241Thr)	Cystinuria [RCV005028438]	uncertain significance	19	32860633	32860633	Human	2	name
597660590	CV3709449	single nucleotide variant	NM_014270.5(SLC7A9):c.715A>G (p.Asn239Asp)	Cystinuria [RCV005028439]	uncertain significance	19	32860640	32860640	Human	2	name
597660597	CV3709450	single nucleotide variant	NM_014270.5(SLC7A9):c.707A>C (p.Asn236Thr)	Cystinuria [RCV005028440]	uncertain significance	19	32860648	32860648	Human	2	name
597660635	CV3709455	single nucleotide variant	NM_014270.5(SLC7A9):c.482T>C (p.Phe161Ser)	Cystinuria [RCV005028445]\|not provided [RCV005112705]	uncertain significance	19	32862583	32862583	Human	2	name
597660669	CV3709459	single nucleotide variant	NM_014270.5(SLC7A9):c.472G>A (p.Ala158Thr)	Cystinuria [RCV005028449]\|not provided [RCV005112706]	uncertain significance	19	32864102	32864102	Human	2	name
597660700	CV3709462	single nucleotide variant	NM_014270.5(SLC7A9):c.400G>A (p.Glu134Lys)	Cystinuria [RCV005028452]	uncertain significance	19	32864174	32864174	Human	2	name
597660706	CV3709463	single nucleotide variant	NM_014270.5(SLC7A9):c.329A>G (p.Tyr110Cys)	Cystinuria [RCV005028453]	uncertain significance	19	32864245	32864245	Human	2	name
597963715	CV3754209	single nucleotide variant	NM_014270.5(SLC7A9):c.834G>A (p.Met278Ile)	not provided [RCV005082316]	uncertain significance	19	32859880	32859880	Human		name
597868906	CV3764542	single nucleotide variant	NM_014270.5(SLC7A9):c.913G>A (p.Val305Ile)	not provided [RCV005107342]	uncertain significance	19	32858504	32858504	Human		name
597958593	CV3797278	single nucleotide variant	NM_014270.5(SLC7A9):c.743C>A (p.Pro248His)	not provided [RCV005137965]	uncertain significance	19	32860612	32860612	Human		name
597869464	CV3835178	single nucleotide variant	NM_014270.5(SLC7A9):c.413C>T (p.Ala138Val)	not provided [RCV005176354]	uncertain significance	19	32864161	32864161	Human		name
13799265	CV553631	single nucleotide variant	NM_014270.5(SLC7A9):c.325G>A (p.Ala109Thr)	Cystinuria [RCV005027841]\|not provided [RCV000681929]	likely pathogenic	19	32864249	32864249	Human	2	name
13832230	CV582722	single nucleotide variant	NM_014270.5(SLC7A9):c.692C>T (p.Ala231Val)	not provided [RCV000722914]	uncertain significance	19	32862130	32862130	Human		name
13832387	CV582881	single nucleotide variant	NM_014270.5(SLC7A9):c.332T>C (p.Leu111Pro)	not provided [RCV000723075]	uncertain significance	19	32864242	32864242	Human		name
14693162	CV620632	single nucleotide variant	NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val)	Cystinuria [RCV000778542]\|not provided [RCV002536733]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	19	32862151	32862151	Human	2	name
14706336	CV647894	single nucleotide variant	NM_014270.5(SLC7A9):c.559A>T (p.Ile187Phe)	not provided [RCV000791967]	uncertain significance	19	32862506	32862506	Human		name
14709689	CV647895	single nucleotide variant	NM_014270.5(SLC7A9):c.511C>T (p.Arg171Trp)	Cystinuria [RCV004761805]\|not provided [RCV000809411]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	19	32862554	32862554	Human	2	name
15171477	CV704904	single nucleotide variant	NM_014270.5(SLC7A9):c.640G>A (p.Ala214Thr)	not provided [RCV000949840]	likely benign	19	32862182	32862182	Human		name
15167704	CV741765	single nucleotide variant	NM_014270.5(SLC7A9):c.829G>A (p.Val277Met)	Cystinuria [RCV001128455]\|not provided [RCV000904705]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	32859885	32859885	Human	2	name
21067049	CV792550	single nucleotide variant	NM_014270.5(SLC7A9):c.767T>C (p.Ile256Thr)	Cystine urolithiasis [RCV000991115]	uncertain significance	19	32859947	32859947	Human	1	name
25314846	CV818336	single nucleotide variant	NM_014270.5(SLC7A9):c.411T>G (p.Cys137Trp)	Cystinuria [RCV001029851]\|not provided [RCV002552024]	likely pathogenic\|uncertain significance	19	32864163	32864163	Human	2	name
26914415	CV847491	single nucleotide variant	NM_014270.5(SLC7A9):c.955G>A (p.Gly319Arg)	not provided [RCV001037520]	pathogenic\|likely pathogenic	19	32858462	32858462	Human		name
28881121	CV860538	single nucleotide variant	NM_014270.5(SLC7A9):c.857C>T (p.Ser286Phe)	not provided [RCV001091065]	pathogenic\|conflicting interpretations of pathogenicity	19	32859857	32859857	Human		name
28899155	CV880266	single nucleotide variant	NM_014270.5(SLC7A9):c.448G>A (p.Val150Ile)	Cystinuria [RCV001123844]	uncertain significance	19	32864126	32864126	Human	2	name
28899159	CV880267	single nucleotide variant	NM_014270.5(SLC7A9):c.419T>C (p.Phe140Ser)	Cystinuria [RCV001123845]\|not provided [RCV001222095]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	19	32864155	32864155	Human	2	name
38463591	CV938630	single nucleotide variant	NM_014270.5(SLC7A9):c.812A>G (p.Asn271Ser)	Cystinuria [RCV002504227]\|not provided [RCV001201441]	uncertain significance	19	32859902	32859902	Human	2	name
38456633	CV950737	single nucleotide variant	NM_014270.5(SLC7A9):c.886C>T (p.Arg296Cys)	Cystinuria [RCV005029792]\|not provided [RCV001228424]	uncertain significance	19	32858531	32858531	Human	2	name
38483972	CV950738	single nucleotide variant	NM_014270.5(SLC7A9):c.844G>A (p.Glu282Lys)	not provided [RCV001236154]	uncertain significance	19	32859870	32859870	Human		name
126745901	CV976155	single nucleotide variant	NM_014270.5(SLC7A9):c.992C>T (p.Ala331Val)	Cystinuria [RCV001328267]\|SLC7A9-related disorder [RCV004753259]	likely pathogenic\|uncertain significance	19	32843937	32843937	Human	2	name , trait , alternate_id
41406221	CV980389	single nucleotide variant	NM_014270.5(SLC7A9):c.968C>T (p.Thr323Ile)	Cystinuria [RCV001280850]	uncertain significance	19	32858449	32858449	Human	2	name
150556525	CV1303218	single nucleotide variant	NM_014270.5(SLC7A9):c.1204G>A (p.Glu402Lys)	not provided [RCV001774411]	uncertain significance	19	32842188	32842188	Human		name
150544977	CV1315360	single nucleotide variant	NM_014270.5(SLC7A9):c.1306G>T (p.Glu436Ter)	Cystinuria [RCV001783776]	likely pathogenic	19	32833242	32833242	Human	2	name
151788944	CV1413117	single nucleotide variant	NM_014270.5(SLC7A9):c.1076G>T (p.Gly359Val)	not provided [RCV001989887]	uncertain significance	19	32842316	32842316	Human		name
151722990	CV1500161	single nucleotide variant	NM_014270.5(SLC7A9):c.1293C>A (p.Ser431Arg)	not provided [RCV001909996]	uncertain significance	19	32833255	32833255	Human		name
156346963	CV1868420	single nucleotide variant	NM_014270.5(SLC7A9):c.1166C>T (p.Thr389Met)	not provided [RCV003064571]	uncertain significance	19	32842226	32842226	Human		name
156381666	CV1868421	single nucleotide variant	NM_014270.5(SLC7A9):c.1137C>G (p.Ser379Arg)	not provided [RCV003050535]	likely pathogenic	19	32842255	32842255	Human		name
156155073	CV2023273	single nucleotide variant	NM_014270.5(SLC7A9):c.1304G>A (p.Trp435Ter)	Cystinuria [RCV005027935]\|not provided [RCV002741350]	pathogenic\|likely pathogenic	19	32833244	32833244	Human	2	name
156171012	CV2041577	single nucleotide variant	NM_014270.5(SLC7A9):c.1402C>T (p.Pro468Ser)	Inborn genetic diseases [RCV004966083]\|not provided [RCV002741859]	uncertain significance	19	32830682	32830682	Human	1	name
156340983	CV2127447	single nucleotide variant	NM_014270.5(SLC7A9):c.1445C>T (p.Pro482Leu)	Cystinuria [RCV005028045]\|not provided [RCV002938899]	pathogenic	19	32830639	32830639	Human	2	name
156370873	CV2204358	single nucleotide variant	NM_014270.5(SLC7A9):c.1388A>G (p.Gln463Arg)	Inborn genetic diseases [RCV002652818]	uncertain significance	19	32833160	32833160	Human	1	name
243054237	CV2413204	single nucleotide variant	NM_014270.5(SLC7A9):c.1210G>T (p.Glu404Ter)	Cystinuria [RCV003131530]	likely pathogenic	19	32842182	32842182	Human	2	name
329358605	CV2454364	single nucleotide variant	NM_014270.5(SLC7A9):c.1267T>C (p.Phe423Leu)	Inborn genetic diseases [RCV003204109]	uncertain significance	19	32833281	32833281	Human	1	name
329362663	CV2464094	single nucleotide variant	NM_014270.5(SLC7A9):c.1267T>G (p.Phe423Val)	Inborn genetic diseases [RCV003206138]	uncertain significance	19	32833281	32833281	Human	1	name
401856649	CV2752636	single nucleotide variant	NM_014270.5(SLC7A9):c.1297C>T (p.Pro433Ser)	Polycystic kidney disease, adult type [RCV003340974]	uncertain significance	19	32833251	32833251	Human	1	name
401895116	CV2792707	single nucleotide variant	NM_014270.5(SLC7A9):c.1043G>T (p.Arg348Leu)	Inborn genetic diseases [RCV003372105]	uncertain significance	19	32843886	32843886	Human	1	name
404977696	CV2851068	single nucleotide variant	NM_014270.5(SLC7A9):c.1043G>A (p.Arg348His)	Cystinuria [RCV003486253]	uncertain significance	19	32843886	32843886	Human	2	name
404977699	CV2851069	single nucleotide variant	NM_014270.5(SLC7A9):c.1362T>G (p.Phe454Leu)	Cystinuria [RCV003486254]	uncertain significance	19	32833186	32833186	Human	2	name
405224965	CV2885722	single nucleotide variant	NM_014270.5(SLC7A9):c.1294A>C (p.Lys432Gln)	Inborn genetic diseases [RCV004963712]\|not provided [RCV003554501]	uncertain significance	19	32833254	32833254	Human	1	name
402503283	CV2933356	single nucleotide variant	NM_014270.5(SLC7A9):c.1139T>C (p.Phe380Ser)	not provided [RCV003574218]	uncertain significance	19	32842253	32842253	Human		name
405242014	CV3014652	single nucleotide variant	NM_014270.5(SLC7A9):c.1148G>T (p.Trp383Leu)	not provided [RCV003719397]	uncertain significance	19	32842244	32842244	Human		name
11625254	CV343170	single nucleotide variant	NM_014270.5(SLC7A9):c.1403C>T (p.Pro468Leu)	Cystinuria [RCV000396840]\|not provided [RCV000884355]	benign\|likely benign\|uncertain significance	19	32830681	32830681	Human	2	name
407515748	CV3481133	single nucleotide variant	NM_014270.5(SLC7A9):c.1289T>C (p.Ile430Thr)	Cystinuria [RCV005023621]\|Inborn genetic diseases [RCV004675039]	uncertain significance	19	32833259	32833259	Human	3	name
408379071	CV3515809	single nucleotide variant	NM_014270.5(SLC7A9):c.1283C>T (p.Pro428Leu)	SLC7A9-related disorder [RCV004752572]	uncertain significance	19	32833265	32833265	Human		name , trait , alternate_id
408383309	CV3518388	single nucleotide variant	NM_014270.5(SLC7A9):c.1340G>A (p.Gly447Asp)	Cystinuria [RCV004759711]	likely pathogenic	19	32833208	32833208	Human	2	name
596938521	CV3549597	single nucleotide variant	NM_014270.5(SLC7A9):c.1183G>A (p.Val395Met)	not provided [RCV004812637]	uncertain significance	19	32842209	32842209	Human		name
597627488	CV3606779	single nucleotide variant	NM_014270.5(SLC7A9):c.1243G>C (p.Val415Leu)	Inborn genetic diseases [RCV004966500]	uncertain significance	19	32833305	32833305	Human	1	name
597627492	CV3606781	single nucleotide variant	NM_014270.5(SLC7A9):c.1045C>T (p.Leu349Phe)	Inborn genetic diseases [RCV004966502]	uncertain significance	19	32843884	32843884	Human	1	name
597660367	CV3709421	single nucleotide variant	NM_014270.5(SLC7A9):c.1429A>T (p.Met477Leu)	Cystinuria [RCV005028411]	uncertain significance	19	32830655	32830655	Human	2	name
597660375	CV3709422	single nucleotide variant	NM_014270.5(SLC7A9):c.1411A>G (p.Met471Val)	Cystinuria [RCV005028412]	uncertain significance	19	32830673	32830673	Human	2	name
597660383	CV3709423	single nucleotide variant	NM_014270.5(SLC7A9):c.1370A>G (p.Tyr457Cys)	Cystinuria [RCV005028413]	uncertain significance	19	32833178	32833178	Human	2	name
597660392	CV3709424	single nucleotide variant	NM_014270.5(SLC7A9):c.1306G>A (p.Glu436Lys)	Cystinuria [RCV005028414]	uncertain significance	19	32833242	32833242	Human	2	name
597660399	CV3709425	single nucleotide variant	NM_014270.5(SLC7A9):c.1286T>A (p.Ile429Asn)	Cystinuria [RCV005028415]	uncertain significance	19	32833262	32833262	Human	2	name
597660407	CV3709427	single nucleotide variant	NM_014270.5(SLC7A9):c.1255C>G (p.Leu419Val)	Cystinuria [RCV005028416]	uncertain significance	19	32833293	32833293	Human	2	name
597660423	CV3709429	single nucleotide variant	NM_014270.5(SLC7A9):c.1196C>T (p.Thr399Ile)	Cystinuria [RCV005028418]\|not provided [RCV005112700]	uncertain significance	19	32842196	32842196	Human	2	name
597660440	CV3709431	single nucleotide variant	NM_014270.5(SLC7A9):c.1088C>T (p.Thr363Met)	Cystinuria [RCV005028420]	uncertain significance	19	32842304	32842304	Human	2	name
597660448	CV3709432	single nucleotide variant	NM_014270.5(SLC7A9):c.1087A>G (p.Thr363Ala)	Cystinuria [RCV005028421]	uncertain significance	19	32842305	32842305	Human	2	name
597660470	CV3709435	single nucleotide variant	NM_014270.5(SLC7A9):c.1042C>T (p.Arg348Cys)	Cystinuria [RCV005028424]\|not provided [RCV005112701]	uncertain significance	19	32843887	32843887	Human	2	name
597660479	CV3709436	single nucleotide variant	NM_014270.5(SLC7A9):c.1036G>A (p.Val346Ile)	Cystinuria [RCV005028425]\|not provided [RCV005112702]	uncertain significance	19	32843893	32843893	Human	2	name
597660495	CV3709439	single nucleotide variant	NM_014270.5(SLC7A9):c.1028A>C (p.Tyr343Ser)	Cystinuria [RCV005028427]	uncertain significance	19	32843901	32843901	Human	2	name
597956687	CV3754701	single nucleotide variant	NM_014270.5(SLC7A9):c.1000G>A (p.Glu334Lys)	not provided [RCV005080551]	uncertain significance	19	32843929	32843929	Human		name
597946779	CV3790533	single nucleotide variant	NM_014270.5(SLC7A9):c.1196C>G (p.Thr399Arg)	not provided [RCV005134941]	uncertain significance	19	32842196	32842196	Human		name
598260295	CV3922057	single nucleotide variant	NM_014270.5(SLC7A9):c.1091T>C (p.Ile364Thr)	Inborn genetic diseases [RCV005279756]	uncertain significance	19	32842301	32842301	Human	1	name
13799217	CV553639	single nucleotide variant	NM_014270.5(SLC7A9):c.1353C>A (p.Tyr451Ter)	Cystinuria [RCV002499211]\|not provided [RCV000681936]	pathogenic\|likely pathogenic	19	32833195	32833195	Human	2	name
14704200	CV654869	single nucleotide variant	NM_014270.5(SLC7A9):c.1060G>A (p.Ala354Thr)	Cystinuria [RCV005411585]\|not provided [RCV002538223]\|not specified [RCV000825652]	pathogenic\|likely pathogenic\|uncertain significance	19	32843869	32843869	Human	2	name
15136308	CV716353	single nucleotide variant	NM_014270.5(SLC7A9):c.1444C>T (p.Pro482Ser)	SLC7A9-related disorder [RCV003935998]\|not provided [RCV000965433]\|not specified [RCV001729760]	benign\|likely benign	19	32830640	32830640	Human	1	name , trait , alternate_id
21067061	CV792549	single nucleotide variant	NM_014270.5(SLC7A9):c.1201A>T (p.Lys401Ter)	Cystine urolithiasis [RCV000991121]	pathogenic	19	32842191	32842191	Human	1	name
8628276	CV83420	single nucleotide variant	NM_014270.4(SLC7A9):c.1118C>T (p.Ser373Leu)	Malignant melanoma [RCV000063500]	not provided	19	32842274	32842274	Human		name
28898886	CV880257	single nucleotide variant	NM_014270.5(SLC7A9):c.1399A>G (p.Lys467Glu)	Cystinuria [RCV001123746]	uncertain significance	19	32833149	32833149	Human	2	name
28898889	CV880258	single nucleotide variant	NM_014270.5(SLC7A9):c.1369T>C (p.Tyr457His)	Cystinuria [RCV001123747]\|SLC7A9-related disorder [RCV003396758]\|not provided [RCV001216402]	uncertain significance	19	32833179	32833179	Human	2	name , trait , alternate_id
28905236	CV880262	single nucleotide variant	NM_014270.5(SLC7A9):c.1199G>A (p.Arg400Lys)	Cystinuria [RCV001126408]\|not provided [RCV001856655]	uncertain significance	19	32842193	32842193	Human	2	name
8636746	CV91971	single nucleotide variant	NM_014270.4(SLC7A9):c.1240C>T (p.Pro414Ser)	Malignant melanoma [RCV000072069]	not provided	19	32833308	32833308	Human		name
41406757	CV962800	single nucleotide variant	NM_014270.5(SLC7A9):c.1397C>A (p.Ser466Ter)	Cystinuria [RCV001281279]	pathogenic\|likely pathogenic	19	32833151	32833151	Human	2	name
597660612	CV3709452	microsatellite	NM_014270.5(SLC7A9):c.569TCA[3] (p.Ile193del)	Cystinuria [RCV005028442]	uncertain significance	19	32862485	32862487	Human		name
597660714	CV3709464	deletion	NM_014270.5(SLC7A9):c.325_328del (p.Ala109fs)	Cystinuria [RCV005028454]	likely pathogenic	19	32864246	32864249	Human	2	name
598204127	CV3896597	deletion	NM_014270.5(SLC7A9):c.505_508del (p.Ser169fs)	Cystinuria [RCV005356812]	likely pathogenic	19	32862557	32862560	Human	2	name
13520623	CV495715	duplication	NM_014270.5(SLC7A9):c.956_957dup (p.Thr320fs)	not provided [RCV000598787]	pathogenic\|likely pathogenic	19	32858459	32858460	Human		name
28881127	CV860539	microsatellite	NM_014270.5(SLC7A9):c.611_612del (p.Thr204fs)	not provided [RCV001091066]	pathogenic	19	32862210	32862211	Human		name
38482229	CV950739	microsatellite	NM_014270.5(SLC7A9):c.411_412del (p.Pro139fs)	Cystinuria [RCV002281176]\|not provided [RCV001235474]	pathogenic	19	32864162	32864163	Human		name
597660689	CV3709461	inversion	NM_014270.5(SLC7A9):c.425_426inv (p.Val142Ala)	Cystinuria [RCV005028451]	uncertain significance	19	32864148	32864149	Human		name
21067042	CV792551	deletion	NM_014270.5(SLC7A9):c.538_540del (p.Phe180del)	Cystine urolithiasis [RCV000991113]	likely pathogenic	19	32862525	32862527	Human	1	name
38464069	CV919847	deletion	NM_014270.5(SLC7A9):c.450_452del (p.Val151del)	Cystinuria [RCV001199108]	likely pathogenic	19	32864122	32864124	Human	2	name
150330730	CV1168735	microsatellite	NM_014270.5(SLC7A9):c.1262_1263del (p.Ser421fs)	Cystinuria [RCV001536032]\|not provided [RCV001873800]	pathogenic	19	32833285	32833286	Human		name
150544979	CV1315361	microsatellite	NM_014270.5(SLC7A9):c.1266_1267del (p.Leu424fs)	Cystinuria [RCV001783777]	likely pathogenic	19	32833281	32833282	Human		name
11639213	CV265981	duplication	NM_014270.5(SLC7A9):c.1428_1431dup (p.Glu478fs)	not provided [RCV000316160]	uncertain significance	19	32830652	32830653	Human		name
597660463	CV3709434	deletion	NM_014270.5(SLC7A9):c.1071_1072del (p.Phe357fs)	Cystinuria [RCV005028423]	likely pathogenic	19	32843857	32843858	Human	2	name
14691315	CV619928	deletion	NM_014270.5(SLC7A9):c.1112_1113del (p.Ile371fs)	Cystinuria [RCV000778162]	uncertain significance	19	32842279	32842280	Human	1	name
152999496	CV1679854	deletion	NM_014270.5(SLC7A9):c.265del (p.Thr88_Met89insTer)	Cystinuria [RCV002251243]	likely pathogenic	19	32864309	32864309	Human	2	name
156178194	CV2023198	indel	NM_014270.5(SLC7A9):c.560_561delinsAA (p.Ile187Lys)	not provided [RCV002765533]	uncertain significance	19	32862504	32862505	Human		name
597660620	CV3709453	indel	NM_014270.5(SLC7A9):c.568_569delinsGC (p.Ile190Ala)	Cystinuria [RCV005028443]	uncertain significance	19	32862496	32862497	Human		name
150514852	CV1285343	microsatellite	NM_014270.5(SLC7A9):c.874-226_874-225insATAAATAAATAT	not provided [RCV001722796]	benign	19	32858768	32858769	Human		name
21067023	CV792552	deletion	NM_014270.5(SLC7A9):c.525del (p.Ser174_Tyr175insTer)	Cystine urolithiasis [RCV000991106]	pathogenic	19	32862540	32862540	Human	1	name
13831891	CV582389	deletion	NM_014270.5(SLC7A9):c.496_510del (p.Asn166_Val170del)	not provided [RCV000722576]	uncertain significance	19	32862555	32862569	Human		name
126730105	CV966576	deletion	NM_014270.5(SLC7A9):c.460_471del (p.Leu154_Ala157del)	Cystinuria [RCV001310247]	uncertain significance	19	32864103	32864114	Human	2	name
150434293	CV1243915	microsatellite	NM_014270.5(SLC7A9):c.874-226_874-225insATAAATAAATAAATAT	not provided [RCV001665122]	likely benign	19	32858768	32858769	Human		name
156246850	CV2192527	duplication	NM_014270.5(SLC7A9):c.802_822dup (p.Tyr274_Phe275insIleLeuMetAsnValSerTyr)	not provided [RCV003059868]	uncertain significance	19	32859891	32859892	Human		name

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