Arsg Variant Search Result - Rat Genome Database

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424 records found for search term Arsg

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150502322	CV1241215	single nucleotide variant	NM_001267727.2(ARSG):c.*32C>T	not provided [RCV001657111]	benign	17	68420495	68420495	Human		name
405276437	CV3216117	single nucleotide variant	NM_001267727.2(ARSG):c.*10T>C	ARSG-related disorder [RCV003944330]	likely benign	17	68420473	68420473	Human		name , trait , alternate_id
126913304	CV1050596	single nucleotide variant	NM_001267727.2(ARSG):c.454+1G>T	not provided [RCV001359124]	pathogenic\|uncertain significance	17	68347173	68347173	Human		name
127240714	CV1083476	single nucleotide variant	NM_001267727.2(ARSG):c.983-4A>G	not provided [RCV001392974]	likely benign	17	68385060	68385060	Human		name
127246510	CV1105273	single nucleotide variant	NM_001267727.2(ARSG):c.704+9T>C	not provided [RCV001424527]	likely benign	17	68356813	68356813	Human		name
151805984	CV1340156	single nucleotide variant	NM_001267727.2(ARSG):c.704+3G>T	not provided [RCV001867558]	uncertain significance	17	68356807	68356807	Human		name
151877109	CV1368783	single nucleotide variant	NM_001267727.2(ARSG):c.982+1G>T	not provided [RCV001999072]	likely pathogenic\|uncertain significance	17	68370525	68370525	Human		name
151777051	CV1379259	single nucleotide variant	NM_001267727.2(ARSG):c.982+5G>A	not provided [RCV001896890]	uncertain significance	17	68370529	68370529	Human		name
151820189	CV1416119	single nucleotide variant	NM_001267727.2(ARSG):c.218+2T>C	not provided [RCV001919491]	likely pathogenic\|uncertain significance	17	68307713	68307713	Human		name
151837563	CV1417017	single nucleotide variant	NM_001267727.2(ARSG):c.218+1G>A	not provided [RCV002014955]	likely pathogenic\|uncertain significance	17	68307712	68307712	Human		name
152074292	CV1652664	single nucleotide variant	NM_001267727.2(ARSG):c.406+9G>A	not provided [RCV002148494]	likely benign	17	68343800	68343800	Human		name
155268391	CV1701788	single nucleotide variant	NM_001267727.2(ARSG):c.982+1G>C	Usher syndrome, type 4 [RCV002284019]	likely pathogenic	17	68370525	68370525	Human	1	name
156010536	CV1991823	single nucleotide variant	NM_001267727.2(ARSG):c.901+2T>C	not provided [RCV002618881]	likely pathogenic\|uncertain significance	17	68368746	68368746	Human		name
156276280	CV2004960	single nucleotide variant	NM_001267727.2(ARSG):c.983-8T>G	not provided [RCV002646695]	uncertain significance	17	68385056	68385056	Human		name
156293859	CV2009916	single nucleotide variant	NM_001267727.2(ARSG):c.983-2A>G	not provided [RCV002715762]	pathogenic\|uncertain significance	17	68385062	68385062	Human		name
156313749	CV2017828	single nucleotide variant	NM_001267727.2(ARSG):c.983-6T>C	not provided [RCV002671778]	likely benign	17	68385058	68385058	Human		name
156198097	CV2066688	single nucleotide variant	NM_001267727.2(ARSG):c.901+6G>A	not provided [RCV002828840]	uncertain significance	17	68368750	68368750	Human		name
155976683	CV2151197	single nucleotide variant	NM_001267727.2(ARSG):c.982+7G>T	not provided [RCV003033682]	likely benign	17	68370531	68370531	Human		name
156000814	CV2168101	single nucleotide variant	NM_001267727.2(ARSG):c.454+1G>A	not provided [RCV003034765]	pathogenic	17	68347173	68347173	Human		name
402481986	CV2864161	single nucleotide variant	NM_001267727.2(ARSG):c.902-6T>G	not provided [RCV003544040]	likely benign	17	68370438	68370438	Human		name
405195189	CV2975783	single nucleotide variant	NM_001267727.2(ARSG):c.454+9T>G	not provided [RCV003677583]	likely benign	17	68347181	68347181	Human		name
596941679	CV3408288	single nucleotide variant	NM_001267727.2(ARSG):c.901+5A>G	Retinal dystrophy [RCV004815959]	uncertain significance	17	68368749	68368749	Human	2	name
407427622	CV3410770	single nucleotide variant	NM_001267727.2(ARSG):c.407-2A>C	Usher syndrome, type 4 [RCV004586417]	likely pathogenic	17	68347123	68347123	Human	1	name
597904891	CV3772835	single nucleotide variant	NM_001267727.2(ARSG):c.219-8C>G	not provided [RCV005112900]	likely benign	17	68343596	68343596	Human		name
597840208	CV3825280	single nucleotide variant	NM_001267727.2(ARSG):c.566+1G>A	not provided [RCV005171963]	likely pathogenic	17	68351687	68351687	Human		name
38478664	CV940433	single nucleotide variant	NM_001267727.2(ARSG):c.982+2T>G	not provided [RCV001205646]	likely pathogenic\|uncertain significance	17	68370526	68370526	Human		name
127281123	CV1083472	single nucleotide variant	NM_001267727.2(ARSG):c.705-10C>T	not provided [RCV001410230]	likely benign	17	68368538	68368538	Human		name
127232885	CV1105270	single nucleotide variant	NM_001267727.2(ARSG):c.406+16G>A	not provided [RCV001421479]	likely benign	17	68343807	68343807	Human		name
127233897	CV1105272	single nucleotide variant	NM_001267727.2(ARSG):c.455-18C>T	not provided [RCV001421900]	likely benign	17	68351557	68351557	Human		name
127276476	CV1105274	single nucleotide variant	NM_001267727.2(ARSG):c.1091+7G>A	not provided [RCV001443821]	likely benign	17	68385179	68385179	Human		name
127292092	CV1126646	single nucleotide variant	NM_001267727.2(ARSG):c.1092-4G>A	not provided [RCV001458896]	likely benign	17	68395069	68395069	Human		name
127321134	CV1158104	single nucleotide variant	NM_001267727.2(ARSG):c.455-16G>A	not provided [RCV001522956]	benign	17	68351559	68351559	Human		name
150501271	CV1213317	single nucleotide variant	NM_001267727.2(ARSG):c.982+74C>T	not provided [RCV001594729]	benign	17	68370598	68370598	Human		name
150491085	CV1239222	single nucleotide variant	NM_001267727.2(ARSG):c.407-84A>G	not provided [RCV001654790]	benign	17	68347041	68347041	Human		name
150490175	CV1250979	single nucleotide variant	NM_001267727.2(ARSG):c.218+64A>T	not provided [RCV001674646]	benign	17	68307775	68307775	Human		name
152095679	CV1534100	single nucleotide variant	NM_001267727.2(ARSG):c.218+14T>C	not provided [RCV002151175]	likely benign	17	68307725	68307725	Human		name
152138937	CV1562732	single nucleotide variant	NM_001267727.2(ARSG):c.567-17C>T	not provided [RCV002100499]	likely benign	17	68356650	68356650	Human		name
152099581	CV1578611	single nucleotide variant	NM_001267727.2(ARSG):c.982+17G>A	not provided [RCV002151644]	likely benign	17	68370541	68370541	Human		name
152140988	CV1618593	single nucleotide variant	NM_001267727.2(ARSG):c.705-16G>C	not provided [RCV002156766]	likely benign	17	68368532	68368532	Human		name
152044688	CV1637885	single nucleotide variant	NM_001267727.2(ARSG):c.219-17C>T	not provided [RCV002144949]	likely benign	17	68343587	68343587	Human		name
152058492	CV1652029	single nucleotide variant	NM_001267727.2(ARSG):c.982+20T>C	not provided [RCV002190249]	likely benign	17	68370544	68370544	Human		name
152048686	CV1656911	single nucleotide variant	NM_001267727.2(ARSG):c.704+12C>G	not provided [RCV002189128]	likely benign	17	68356816	68356816	Human		name
152063182	CV1663935	single nucleotide variant	NM_001267727.2(ARSG):c.406+15C>T	not provided [RCV002073928]	likely benign	17	68343806	68343806	Human		name
156378148	CV1953625	single nucleotide variant	NM_001267727.2(ARSG):c.705-19C>G	not provided [RCV002582970]	likely benign	17	68368529	68368529	Human		name
156272673	CV2004227	deletion	NM_001267727.2(ARSG):c.983-12del	not provided [RCV002646584]	benign	17	68385049	68385049	Human		name
156281372	CV2016349	single nucleotide variant	NM_001267727.2(ARSG):c.704+11T>C	not provided [RCV002715311]	likely benign	17	68356815	68356815	Human		name
156295840	CV2017049	single nucleotide variant	NM_001267727.2(ARSG):c.406+12C>A	not provided [RCV002715839]	likely benign	17	68343803	68343803	Human		name
156231030	CV2019740	single nucleotide variant	NM_001267727.2(ARSG):c.567-14T>C	not provided [RCV002701360]	likely benign	17	68356653	68356653	Human		name
155977670	CV2157017	single nucleotide variant	NM_001267727.2(ARSG):c.1303+1G>A	not provided [RCV003016228]	pathogenic\|uncertain significance	17	68401451	68401451	Human		name
155950790	CV2159075	single nucleotide variant	NM_001267727.2(ARSG):c.901+18A>G	not provided [RCV003014840]	likely benign	17	68368762	68368762	Human		name
156087137	CV2170645	single nucleotide variant	NM_001267727.2(ARSG):c.1092-4G>C	not provided [RCV003038086]	likely benign	17	68395069	68395069	Human		name
156291798	CV2183010	single nucleotide variant	NM_001267727.2(ARSG):c.1303+5G>T	not provided [RCV003027708]	uncertain significance	17	68401455	68401455	Human		name
401798332	CV2741427	single nucleotide variant	NM_001267727.2(ARSG):c.1212+1G>A	Usher syndrome, type 4 [RCV003322646]	pathogenic	17	68395194	68395194	Human	1	name
405069700	CV2936964	single nucleotide variant	NM_001267727.2(ARSG):c.454+17G>A	not provided [RCV003659343]	likely benign	17	68347189	68347189	Human		name
402472913	CV2963666	single nucleotide variant	NM_001267727.2(ARSG):c.1304-6C>T	not provided [RCV003681720]	likely benign	17	68420183	68420183	Human		name
405235817	CV2973249	single nucleotide variant	NM_001267727.2(ARSG):c.901+16C>T	not provided [RCV003683065]	likely benign	17	68368760	68368760	Human		name
405197774	CV3032676	single nucleotide variant	NM_001267727.2(ARSG):c.1092-4G>T	not provided [RCV003707120]	likely benign	17	68395069	68395069	Human		name
405203040	CV3143925	single nucleotide variant	NM_001267727.2(ARSG):c.455-17G>A	not provided [RCV003844715]	likely benign	17	68351558	68351558	Human		name
405223703	CV3158460	single nucleotide variant	NM_001267727.2(ARSG):c.705-12C>G	not provided [RCV003863956]	likely benign	17	68368536	68368536	Human		name
405239900	CV3166049	single nucleotide variant	NM_001267727.2(ARSG):c.407-15T>C	not provided [RCV003867061]	likely benign	17	68347110	68347110	Human		name
597877463	CV3744260	single nucleotide variant	NM_001267727.2(ARSG):c.705-17T>C	not provided [RCV005069474]	likely benign	17	68368531	68368531	Human		name
597862331	CV3745192	single nucleotide variant	NM_001267727.2(ARSG):c.902-13T>C	not provided [RCV005067548]	likely benign	17	68370431	68370431	Human		name
597882995	CV3784187	single nucleotide variant	NM_001267727.2(ARSG):c.566+10T>C	not provided [RCV005124475]	likely benign	17	68351696	68351696	Human		name
597931494	CV3827110	single nucleotide variant	NM_001267727.2(ARSG):c.407-13T>C	not provided [RCV005157123]	likely benign	17	68347112	68347112	Human		name
15128061	CV779961	single nucleotide variant	NM_001267727.2(ARSG):c.1092-5C>T	ARSG-related disorder [RCV003916140]\|Usher syndrome, type 4 [RCV002479118]\|not provided [RCV000964016]	benign\|likely benign	17	68395068	68395068	Human	1	name , trait , alternate_id
38483441	CV960238	single nucleotide variant	NM_001267727.2(ARSG):c.1091+1G>A	not provided [RCV001235928]	likely pathogenic\|uncertain significance	17	68385173	68385173	Human		name
127303654	CV1126648	single nucleotide variant	NM_001267727.2(ARSG):c.1213-10C>T	not provided [RCV001461982]	likely benign	17	68401350	68401350	Human		name
150443619	CV1216521	single nucleotide variant	NM_001267727.2(ARSG):c.983-212G>A	not provided [RCV001610820]	benign	17	68384852	68384852	Human		name
150505077	CV1222803	single nucleotide variant	NM_001267727.2(ARSG):c.705-112G>A	not provided [RCV001621737]	benign	17	68368436	68368436	Human		name
150488089	CV1226006	single nucleotide variant	NM_001267727.2(ARSG):c.1303+35G>T	not provided [RCV001618167]	benign	17	68401485	68401485	Human		name
150436487	CV1234070	single nucleotide variant	NM_001267727.2(ARSG):c.567-197A>G	not provided [RCV001644197]	benign	17	68356470	68356470	Human		name
150480170	CV1258382	single nucleotide variant	NM_001267727.2(ARSG):c.567-228C>G	not provided [RCV001685801]	benign	17	68356439	68356439	Human		name
150443841	CV1264649	single nucleotide variant	NM_001267727.2(ARSG):c.219-173A>G	not provided [RCV001679633]	benign	17	68343431	68343431	Human		name
150488773	CV1265301	single nucleotide variant	NM_001267727.2(ARSG):c.1091+72A>G	not provided [RCV001687337]	benign	17	68385244	68385244	Human		name
152175840	CV1527270	single nucleotide variant	NM_001267727.2(ARSG):c.1303+20G>A	not provided [RCV002163977]	likely benign	17	68401470	68401470	Human		name
155935052	CV2057945	single nucleotide variant	NM_001267727.2(ARSG):c.1212+11G>A	not provided [RCV002815308]	likely benign	17	68395204	68395204	Human		name
155945160	CV2062147	single nucleotide variant	NM_001267727.2(ARSG):c.1212+16A>G	not provided [RCV002815939]	likely benign	17	68395209	68395209	Human		name
155962448	CV2134529	single nucleotide variant	NM_001267727.2(ARSG):c.1303+12G>C	not provided [RCV002972453]	likely benign	17	68401462	68401462	Human		name
156100231	CV2153017	single nucleotide variant	NM_001267727.2(ARSG):c.1303+15A>G	not provided [RCV003021023]	likely benign	17	68401465	68401465	Human		name
402485079	CV2931542	single nucleotide variant	NM_001267727.2(ARSG):c.1213-16T>C	not provided [RCV003572450]	likely benign	17	68401344	68401344	Human		name
405129307	CV2962221	single nucleotide variant	NM_001267727.2(ARSG):c.1212+16A>T	not provided [RCV003668237]	likely benign	17	68395209	68395209	Human		name
597925005	CV3772616	duplication	NM_001267727.2(ARSG):c.1303+12dup	not provided [RCV005115766]	benign	17	68401458	68401459	Human		name
597906379	CV3781035	single nucleotide variant	NM_001267727.2(ARSG):c.1092-16C>A	not provided [RCV005127933]	likely benign	17	68395057	68395057	Human		name
127329203	CV1147564	microsatellite	NM_001267727.2(ARSG):c.1304-8CT[2]	not provided [RCV001487286]	likely benign	17	68420181	68420182	Human		name
150331932	CV1173046	single nucleotide variant	NM_001267727.2(ARSG):c.1303+149A>G	not provided [RCV001538836]	benign	17	68401599	68401599	Human	4	name
150331932	CV1173046	single nucleotide variant	NM_001267727.2(ARSG):c.1303+149A>G	not provided [RCV001538836]	benign	17	68401599	68401600	Human	4	name
150337282	CV1173047	single nucleotide variant	NM_001267727.2(ARSG):c.1303+181T>G	not provided [RCV001541540]	benign	17	68401631	68401631	Human		name
150459881	CV1268406	single nucleotide variant	NM_001267727.2(ARSG):c.1092-236C>T	not provided [RCV001693403]	benign	17	68394837	68394837	Human		name
150473408	CV1272165	single nucleotide variant	NM_001267727.2(ARSG):c.1212+229T>C	not provided [RCV001695703]	benign	17	68395422	68395422	Human		name
126749199	CV1013082	deletion	NM_001267727.2(ARSG):c.983-2_983-1del	not provided [RCV001315677]	pathogenic\|uncertain significance	17	68385062	68385063	Human		name
38470037	CV940432	deletion	NM_001267727.2(ARSG):c.566+3_566+8del	not provided [RCV001202499]	pathogenic\|uncertain significance	17	68351688	68351693	Human		name
151765310	CV1407775	single nucleotide variant	NM_001267727.2(ARSG):c.21G>A (p.Lys7=)	not provided [RCV002044719]	likely benign\|uncertain significance	17	68307514	68307514	Human		name
152077970	CV1531413	single nucleotide variant	NM_001267727.2(ARSG):c.15T>C (p.Phe5=)	not provided [RCV002210851]	likely benign	17	68307508	68307508	Human		name
151801159	CV1404076	single nucleotide variant	NM_001267727.2(ARSG):c.4G>T (p.Gly2Cys)	not provided [RCV001973920]	uncertain significance	17	68307497	68307497	Human		name
152129897	CV1549391	single nucleotide variant	NM_001267727.2(ARSG):c.48A>G (p.Ser16=)	not provided [RCV002099341]	likely benign	17	68307541	68307541	Human		name
152130820	CV1635172	single nucleotide variant	NM_001267727.2(ARSG):c.48A>C (p.Ser16=)	not provided [RCV002099462]	likely benign	17	68307541	68307541	Human		name
156300310	CV2017284	single nucleotide variant	NM_001267727.2(ARSG):c.9G>C (p.Trp3Cys)	not provided [RCV002716028]	uncertain significance	17	68307502	68307502	Human		name
156375875	CV2024699	deletion	NM_001267727.2(ARSG):c.407-16_407-15del	not provided [RCV002721914]	likely benign	17	68347109	68347110	Human		name
597963240	CV3753872	single nucleotide variant	NM_001267727.2(ARSG):c.33G>A (p.Ala11=)	not provided [RCV005082176]	likely benign	17	68307526	68307526	Human		name
15149686	CV727377	single nucleotide variant	NM_001267727.2(ARSG):c.87G>A (p.Gly29=)	ARSG-related disorder [RCV003975504]\|not provided [RCV000879218]	benign\|likely benign	17	68307580	68307580	Human	1	name , trait , alternate_id
15180353	CV740977	single nucleotide variant	NM_001267727.2(ARSG):c.63T>A (p.Pro21=)	not provided [RCV000907333]	benign	17	68307556	68307556	Human		name
127271651	CV1105268	single nucleotide variant	NM_001267727.2(ARSG):c.207G>A (p.Ser69=)	not provided [RCV001441906]	likely benign	17	68307700	68307700	Human		name
127306585	CV1126645	single nucleotide variant	NM_001267727.2(ARSG):c.279C>T (p.Thr93=)	not provided [RCV001455568]	likely benign	17	68343664	68343664	Human		name
152169684	CV1529313	single nucleotide variant	NM_001267727.2(ARSG):c.180C>T (p.Asp60=)	not provided [RCV002161524]	likely benign	17	68307673	68307673	Human		name
152103877	CV1569893	single nucleotide variant	NM_001267727.2(ARSG):c.186C>A (p.Ala62=)	not provided [RCV002195891]	likely benign	17	68307679	68307679	Human		name
156410083	CV1962102	single nucleotide variant	NM_001267727.2(ARSG):c.135C>T (p.Asp45=)	not provided [RCV002587041]	likely benign	17	68307628	68307628	Human		name
156172792	CV1968427	single nucleotide variant	NM_001267727.2(ARSG):c.129C>T (p.Ala43=)	not provided [RCV002594822]	likely benign	17	68307622	68307622	Human		name
156156406	CV1987816	single nucleotide variant	NM_001267727.2(ARSG):c.267T>A (p.Ala89=)	not provided [RCV002642247]	likely benign	17	68343652	68343652	Human		name
156087056	CV2034136	single nucleotide variant	NM_001267727.2(ARSG):c.231C>T (p.Phe77=)	ARSG-related disorder [RCV004756418]\|not provided [RCV002760812]	likely benign	17	68343616	68343616	Human	1	name , trait , alternate_id
156041517	CV2049750	single nucleotide variant	NM_001267727.2(ARSG):c.189C>T (p.Asn63=)	not provided [RCV002796453]	likely benign	17	68307682	68307682	Human		name
156217486	CV2070732	single nucleotide variant	NM_001267727.2(ARSG):c.23T>C (p.Val8Ala)	not provided [RCV002829555]	uncertain significance	17	68307516	68307516	Human		name
156062024	CV2161992	single nucleotide variant	NM_001267727.2(ARSG):c.294T>G (p.Leu98=)	not provided [RCV003019767]	likely benign	17	68343679	68343679	Human		name
38475374	CV950238	deletion	NM_001267727.2(ARSG):c.91del (p.Thr31fs)	not provided [RCV001232605]	pathogenic\|uncertain significance	17	68307581	68307581	Human		name
126768362	CV1013079	single nucleotide variant	NM_001267727.2(ARSG):c.396T>A (p.Thr132=)	ARSG-related disorder [RCV003963215]\|not provided [RCV001321320]	likely benign\|uncertain significance	17	68343781	68343781	Human	1	name , trait , alternate_id
127256879	CV1083470	single nucleotide variant	NM_001267727.2(ARSG):c.450C>T (p.Phe150=)	not provided [RCV001419135]	likely benign	17	68347168	68347168	Human		name
127258558	CV1083471	single nucleotide variant	NM_001267727.2(ARSG):c.540G>A (p.Ala180=)	not provided [RCV001401711]	likely benign	17	68351660	68351660	Human		name
127264468	CV1083473	single nucleotide variant	NM_001267727.2(ARSG):c.711C>T (p.Ser237=)	ARSG-related disorder [RCV003908576]\|not provided [RCV001403292]	likely benign	17	68368554	68368554	Human	1	name , trait , alternate_id
127234298	CV1083475	single nucleotide variant	NM_001267727.2(ARSG):c.879A>G (p.Glu293=)	not provided [RCV001396406]	likely benign	17	68368722	68368722	Human		name
127247867	CV1105269	single nucleotide variant	NM_001267727.2(ARSG):c.396T>G (p.Thr132=)	not provided [RCV001435704]	likely benign	17	68343781	68343781	Human		name
127265296	CV1105271	single nucleotide variant	NM_001267727.2(ARSG):c.447C>T (p.Asn149=)	not provided [RCV001429035]	likely benign	17	68347165	68347165	Human		name
127292653	CV1147558	single nucleotide variant	NM_001267727.2(ARSG):c.351C>T (p.Asn117=)	not provided [RCV001496533]	likely benign	17	68343736	68343736	Human		name
127318511	CV1147559	single nucleotide variant	NM_001267727.2(ARSG):c.360C>T (p.Thr120=)	ARSG-related disorder [RCV003948475]\|not provided [RCV001503721]	likely benign	17	68343745	68343745	Human	1	name , trait , alternate_id
127329496	CV1147560	single nucleotide variant	NM_001267727.2(ARSG):c.408C>G (p.Gly136=)	not provided [RCV001487441]	likely benign	17	68347126	68347126	Human		name
127310517	CV1147561	single nucleotide variant	NM_001267727.2(ARSG):c.426C>T (p.His142=)	not provided [RCV001501364]	likely benign	17	68347144	68347144	Human		name
127311173	CV1147563	single nucleotide variant	NM_001267727.2(ARSG):c.930T>C (p.Cys310=)	not provided [RCV001501551]	likely benign	17	68370472	68370472	Human		name
127303517	CV1158106	single nucleotide variant	NM_001267727.2(ARSG):c.612T>C (p.Tyr204=)	not provided [RCV001515501]	benign	17	68356712	68356712	Human		name
127297161	CV1158108	single nucleotide variant	NM_001267727.2(ARSG):c.756G>A (p.Val252=)	not provided [RCV001512776]	benign	17	68368599	68368599	Human		name
127296898	CV1158109	single nucleotide variant	NM_001267727.2(ARSG):c.765T>C (p.Pro255=)	Usher syndrome, type 4 [RCV001554171]\|not provided [RCV001512677]	benign	17	68368608	68368608	Human	1	name
127305153	CV1158111	single nucleotide variant	NM_001267727.2(ARSG):c.903A>G (p.Gly301=)	ARSG-related disorder [RCV003931090]\|not provided [RCV001516180]	benign	17	68370445	68370445	Human	1	name , trait , alternate_id
151773492	CV1414510	single nucleotide variant	NM_001267727.2(ARSG):c.408C>T (p.Gly136=)	not provided [RCV001874673]	likely benign\|uncertain significance	17	68347126	68347126	Human		name
151853228	CV1514519	single nucleotide variant	NM_001267727.2(ARSG):c.37G>T (p.Val13Leu)	not provided [RCV001979215]	uncertain significance	17	68307530	68307530	Human		name
152067424	CV1529299	single nucleotide variant	NM_001267727.2(ARSG):c.477C>T (p.Ile159=)	not provided [RCV002168855]	likely benign	17	68351597	68351597	Human		name
152077549	CV1531338	single nucleotide variant	NM_001267727.2(ARSG):c.390C>T (p.Tyr130=)	not provided [RCV002210795]	likely benign	17	68343775	68343775	Human		name
152039373	CV1538445	single nucleotide variant	NM_001267727.2(ARSG):c.753C>T (p.His251=)	not provided [RCV002206107]	likely benign	17	68368596	68368596	Human		name
152092598	CV1545100	single nucleotide variant	NM_001267727.2(ARSG):c.507T>C (p.Asp169=)	ARSG-related disorder [RCV003941294]\|not provided [RCV002172027]	likely benign	17	68351627	68351627	Human	1	name , trait , alternate_id
152121857	CV1613259	single nucleotide variant	NM_001267727.2(ARSG):c.300T>C (p.Asn100=)	not provided [RCV002154362]	likely benign	17	68343685	68343685	Human		name
152033127	CV1614977	single nucleotide variant	NM_001267727.2(ARSG):c.438T>C (p.Tyr146=)	not provided [RCV002086715]	likely benign	17	68347156	68347156	Human		name
152103926	CV1624559	single nucleotide variant	NM_001267727.2(ARSG):c.882C>T (p.Asn294=)	not provided [RCV002173458]	likely benign	17	68368725	68368725	Human		name
152169409	CV1637045	single nucleotide variant	NM_001267727.2(ARSG):c.954C>G (p.Pro318=)	not provided [RCV002182786]	likely benign	17	68370496	68370496	Human		name
152070096	CV1640318	single nucleotide variant	NM_001267727.2(ARSG):c.759C>T (p.Pro253=)	not provided [RCV002147958]	likely benign	17	68368602	68368602	Human		name
152058708	CV1644634	single nucleotide variant	NM_001267727.2(ARSG):c.441C>T (p.His147=)	not provided [RCV002167748]	likely benign	17	68347159	68347159	Human		name
152114493	CV1651290	single nucleotide variant	NM_001267727.2(ARSG):c.576A>G (p.Gln192=)	not provided [RCV002153483]	likely benign	17	68356676	68356676	Human		name
155974507	CV1975041	single nucleotide variant	NM_001267727.2(ARSG):c.432C>T (p.Gly144=)	not provided [RCV002617331]	likely benign	17	68347150	68347150	Human		name
156076531	CV1979270	single nucleotide variant	NM_001267727.2(ARSG):c.939G>A (p.Ala313=)	not provided [RCV002621407]	likely benign	17	68370481	68370481	Human		name
155910149	CV1980078	single nucleotide variant	NM_001267727.2(ARSG):c.594C>T (p.Asp198=)	not provided [RCV002613926]	likely benign	17	68356694	68356694	Human		name
156389384	CV1989974	single nucleotide variant	NM_001267727.2(ARSG):c.429C>T (p.His143=)	not provided [RCV002604535]	likely benign	17	68347147	68347147	Human		name
156277712	CV2005042	single nucleotide variant	NM_001267727.2(ARSG):c.654C>T (p.Ser218=)	not provided [RCV002646739]	likely benign	17	68356754	68356754	Human		name
156218946	CV2082020	single nucleotide variant	NM_001267727.2(ARSG):c.59A>T (p.Tyr20Phe)	not provided [RCV002894103]	uncertain significance	17	68307552	68307552	Human		name
156152108	CV2125046	single nucleotide variant	NM_001267727.2(ARSG):c.339C>G (p.Gly113=)	not provided [RCV002928938]	likely benign	17	68343724	68343724	Human		name
156022274	CV2141390	single nucleotide variant	NM_001267727.2(ARSG):c.492T>C (p.Asp164=)	not provided [RCV002976212]	likely benign	17	68351612	68351612	Human		name
155926093	CV2145087	single nucleotide variant	NM_001267727.2(ARSG):c.37G>A (p.Val13Met)	not provided [RCV003013412]	uncertain significance	17	68307530	68307530	Human		name
156037278	CV2150288	single nucleotide variant	NM_001267727.2(ARSG):c.46T>C (p.Ser16Pro)	not provided [RCV003018921]	uncertain significance	17	68307539	68307539	Human		name
156025735	CV2185548	single nucleotide variant	NM_001267727.2(ARSG):c.627T>C (p.Ile209=)	not provided [RCV003035951]	likely benign	17	68356727	68356727	Human		name
155906541	CV2279295	single nucleotide variant	NM_001267727.2(ARSG):c.98G>A (p.Gly33Glu)	not specified [RCV004139814]	uncertain significance	17	68307591	68307591	Human		name
405120175	CV2952269	single nucleotide variant	NM_001267727.2(ARSG):c.960T>C (p.Thr320=)	not provided [RCV003671385]	likely benign	17	68370502	68370502	Human		name
405000473	CV3120251	single nucleotide variant	NM_001267727.2(ARSG):c.945T>C (p.Ser315=)	not provided [RCV003828041]	likely benign	17	68370487	68370487	Human		name
405118969	CV3134773	single nucleotide variant	NM_001267727.2(ARSG):c.984G>C (p.Gly328=)	not provided [RCV003837183]	likely benign	17	68385065	68385065	Human		name
405235841	CV3166370	single nucleotide variant	NM_001267727.2(ARSG):c.723C>T (p.Phe241=)	ARSG-related disorder [RCV003949063]\|not provided [RCV003853819]	likely benign	17	68368566	68368566	Human	1	name , trait , alternate_id
405226288	CV3169392	single nucleotide variant	NM_001267727.2(ARSG):c.957C>T (p.Phe319=)	not provided [RCV003864416]	likely benign	17	68370499	68370499	Human		name
405664493	CV3286506	single nucleotide variant	NM_001267727.2(ARSG):c.915G>A (p.Pro305=)	not specified [RCV004418244]	likely benign	17	68370457	68370457	Human		name
597889608	CV3739426	single nucleotide variant	NM_001267727.2(ARSG):c.639G>A (p.Pro213=)	not provided [RCV005070973]	likely benign	17	68356739	68356739	Human		name
597889866	CV3739456	single nucleotide variant	NM_001267727.2(ARSG):c.570C>T (p.Asn190=)	not provided [RCV005071003]	likely benign	17	68356670	68356670	Human		name
597954390	CV3754014	single nucleotide variant	NM_001267727.2(ARSG):c.345G>A (p.Pro115=)	not provided [RCV005080057]	likely benign	17	68343730	68343730	Human		name
597865169	CV3792567	single nucleotide variant	NM_001267727.2(ARSG):c.759C>G (p.Pro253=)	not provided [RCV005147374]	likely benign	17	68368602	68368602	Human		name
597959304	CV3797346	single nucleotide variant	NM_001267727.2(ARSG):c.810T>C (p.Gly270=)	not provided [RCV005138033]	likely benign	17	68368653	68368653	Human		name
597897806	CV3826548	single nucleotide variant	NM_001267727.2(ARSG):c.468C>T (p.Tyr156=)	not provided [RCV005180681]	likely benign	17	68351588	68351588	Human		name
15167208	CV704323	single nucleotide variant	NM_001267727.2(ARSG):c.32C>T (p.Ala11Val)	ARSG-related disorder [RCV003913270]\|not provided [RCV000949009]	benign	17	68307525	68307525	Human	1	name , trait , alternate_id
15162446	CV704324	single nucleotide variant	NM_001267727.2(ARSG):c.603C>T (p.Leu201=)	ARSG-related disorder [RCV003943006]\|not provided [RCV000947855]	benign\|likely benign	17	68356703	68356703	Human	1	name , trait , alternate_id
15160258	CV715646	single nucleotide variant	NM_001267727.2(ARSG):c.786G>A (p.Ala262=)	ARSG-related disorder [RCV003928470]\|not provided [RCV000969865]	benign	17	68368629	68368629	Human	1	name , trait , alternate_id
126763272	CV1013077	single nucleotide variant	NM_001267727.2(ARSG):c.263G>A (p.Arg88Gln)	not provided [RCV001319182]	uncertain significance	17	68343648	68343648	Human		name
126772415	CV1013078	single nucleotide variant	NM_001267727.2(ARSG):c.286C>G (p.Leu96Val)	not provided [RCV001323743]\|not specified [RCV004035109]	uncertain significance	17	68343671	68343671	Human		name
126773594	CV1013083	single nucleotide variant	NM_001267727.2(ARSG):c.1191C>T (p.Gly397=)	not provided [RCV001324421]	likely benign\|uncertain significance	17	68395172	68395172	Human		name
126771242	CV1033602	single nucleotide variant	NM_001267727.2(ARSG):c.140G>A (p.Gly47Glu)	not provided [RCV001344924]	uncertain significance	17	68307633	68307633	Human		name
127234304	CV1083477	single nucleotide variant	NM_001267727.2(ARSG):c.1005G>A (p.Thr335=)	not provided [RCV001414183]	likely benign	17	68385086	68385086	Human		name
127242126	CV1083478	single nucleotide variant	NM_001267727.2(ARSG):c.1260G>T (p.Leu420=)	not provided [RCV001398131]	likely benign	17	68401407	68401407	Human		name
127278259	CV1083480	single nucleotide variant	NM_001267727.2(ARSG):c.1419G>A (p.Ala473=)	not provided [RCV001408382]	likely benign	17	68420304	68420304	Human		name
127231225	CV1083481	single nucleotide variant	NM_001267727.2(ARSG):c.1557C>T (p.Ala519=)	not provided [RCV001412957]	likely benign	17	68420442	68420442	Human		name
127256373	CV1105275	single nucleotide variant	NM_001267727.2(ARSG):c.1113T>C (p.Thr371=)	ARSG-related disorder [RCV003953814]\|not provided [RCV001437677]	likely benign	17	68395094	68395094	Human	1	name , trait , alternate_id
127240591	CV1105276	single nucleotide variant	NM_001267727.2(ARSG):c.1299T>C (p.Ile433=)	not provided [RCV001423370]	likely benign	17	68401446	68401446	Human		name
127267304	CV1105277	single nucleotide variant	NM_001267727.2(ARSG):c.1317G>A (p.Ala439=)	not provided [RCV001429636]	likely benign	17	68420202	68420202	Human		name
127255970	CV1105278	single nucleotide variant	NM_001267727.2(ARSG):c.1380C>T (p.Asp460=)	not provided [RCV001426719]	likely benign	17	68420265	68420265	Human		name
127277809	CV1105279	single nucleotide variant	NM_001267727.2(ARSG):c.1482C>T (p.Ala494=)	not provided [RCV001444631]	likely benign	17	68420367	68420367	Human		name
127258319	CV1105280	single nucleotide variant	NM_001267727.2(ARSG):c.1491C>T (p.Asn497=)	not provided [RCV001438095]	likely benign	17	68420376	68420376	Human		name
127275381	CV1105281	single nucleotide variant	NM_001267727.2(ARSG):c.1506T>C (p.Asp502=)	not provided [RCV001432317]	likely benign	17	68420391	68420391	Human		name
127330295	CV1147565	single nucleotide variant	NM_001267727.2(ARSG):c.1332G>C (p.Thr444=)	not provided [RCV001488021]	likely benign	17	68420217	68420217	Human		name
127337796	CV1147566	single nucleotide variant	NM_001267727.2(ARSG):c.1440C>T (p.Pro480=)	not provided [RCV001493095]	likely benign	17	68420325	68420325	Human		name
127319227	CV1147567	single nucleotide variant	NM_001267727.2(ARSG):c.1500C>T (p.Ser500=)	not provided [RCV001483778]	likely benign	17	68420385	68420385	Human		name
127306085	CV1158113	single nucleotide variant	NM_001267727.2(ARSG):c.1026G>A (p.Arg342=)	not provided [RCV001516503]	benign	17	68385107	68385107	Human		name
127315232	CV1158114	single nucleotide variant	NM_001267727.2(ARSG):c.1110A>G (p.Pro370=)	not provided [RCV001519932]	benign	17	68395091	68395091	Human		name
127298061	CV1158117	single nucleotide variant	NM_001267727.2(ARSG):c.1233C>T (p.Ser411=)	ARSG-related disorder [RCV003940909]\|not provided [RCV001513126]	benign	17	68401380	68401380	Human	1	name , trait , alternate_id
151783094	CV1347529	single nucleotide variant	NM_001267727.2(ARSG):c.206C>T (p.Ser69Leu)	not provided [RCV002046349]	uncertain significance	17	68307699	68307699	Human		name
151759742	CV1355368	single nucleotide variant	NM_001267727.2(ARSG):c.295C>T (p.Arg99Cys)	not provided [RCV001948998]	uncertain significance	17	68343680	68343680	Human		name
151864507	CV1361243	single nucleotide variant	NM_001267727.2(ARSG):c.290G>A (p.Gly97Asp)	not provided [RCV001905725]	uncertain significance	17	68343675	68343675	Human		name
151826770	CV1422227	single nucleotide variant	NM_001267727.2(ARSG):c.1092C>T (p.Ser364=)	ARSG-related disorder [RCV003892982]\|not provided [RCV001955284]\|not specified [RCV004847870]	likely benign\|uncertain significance	17	68395073	68395073	Human	1	name , trait , alternate_id
151779082	CV1471276	duplication	NM_001267727.2(ARSG):c.914dup (p.Trp306fs)	not provided [RCV001971910]	pathogenic\|uncertain significance	17	68370453	68370454	Human		name
151878513	CV1476107	single nucleotide variant	NM_001267727.2(ARSG):c.146G>A (p.Gly49Asp)	not provided [RCV002019843]	uncertain significance	17	68307639	68307639	Human		name
151838536	CV1492731	single nucleotide variant	NM_001267727.2(ARSG):c.138G>A (p.Met46Ile)	not provided [RCV001881065]\|not specified [RCV004671487]	uncertain significance	17	68307631	68307631	Human		name
152160902	CV1530936	single nucleotide variant	NM_001267727.2(ARSG):c.1272C>T (p.Arg424=)	not provided [RCV002123172]	likely benign	17	68401419	68401419	Human		name
152045120	CV1556063	single nucleotide variant	NM_001267727.2(ARSG):c.1176C>T (p.Ser392=)	not provided [RCV002206838]	likely benign	17	68395157	68395157	Human		name
152054335	CV1574279	single nucleotide variant	NM_001267727.2(ARSG):c.1242T>C (p.Ala414=)	not provided [RCV002189779]	likely benign	17	68401389	68401389	Human		name
152058686	CV1575912	single nucleotide variant	NM_001267727.2(ARSG):c.1572C>T (p.Ala524=)	not provided [RCV002197767]	likely benign	17	68420457	68420457	Human		name
152055095	CV1580130	single nucleotide variant	NM_001267727.2(ARSG):c.1464C>T (p.Asp488=)	not provided [RCV002164014]	likely benign	17	68420349	68420349	Human		name
152047889	CV1593243	single nucleotide variant	NM_001267727.2(ARSG):c.1386C>T (p.Thr462=)	not provided [RCV002101993]	likely benign	17	68420271	68420271	Human		name
152056084	CV1624549	single nucleotide variant	NM_001267727.2(ARSG):c.1360C>T (p.Leu454=)	not provided [RCV002173452]	likely benign	17	68420245	68420245	Human		name
152141488	CV1628951	single nucleotide variant	NM_001267727.2(ARSG):c.1032A>G (p.Pro344=)	not provided [RCV002100837]	likely benign	17	68385113	68385113	Human		name
152058758	CV1641538	single nucleotide variant	NM_001267727.2(ARSG):c.1512T>C (p.Thr504=)	not provided [RCV002198136]	likely benign	17	68420397	68420397	Human		name
152053186	CV1665165	single nucleotide variant	NM_001267727.2(ARSG):c.1122C>T (p.Ala374=)	not provided [RCV002089412]	likely benign	17	68395103	68395103	Human		name
156354509	CV1880104	single nucleotide variant	NM_001267727.2(ARSG):c.1170C>T (p.Asp390=)	not provided [RCV003065124]	likely benign	17	68395151	68395151	Human		name
156295219	CV1894153	single nucleotide variant	NM_001267727.2(ARSG):c.1167G>A (p.Val389=)	not provided [RCV003087664]	likely benign	17	68395148	68395148	Human		name
156025528	CV1896181	single nucleotide variant	NM_001267727.2(ARSG):c.233A>G (p.His78Arg)	not provided [RCV003100408]	uncertain significance	17	68343618	68343618	Human		name
156363990	CV1900905	single nucleotide variant	NM_001267727.2(ARSG):c.1440C>G (p.Pro480=)	ARSG-related disorder [RCV003898811]\|not provided [RCV002581927]	likely benign	17	68420325	68420325	Human	1	name , trait , alternate_id
156348658	CV1970708	single nucleotide variant	NM_001267727.2(ARSG):c.1332G>A (p.Thr444=)	not provided [RCV002601662]	likely benign	17	68420217	68420217	Human		name
156213147	CV1997233	single nucleotide variant	NM_001267727.2(ARSG):c.278C>T (p.Thr93Ile)	not provided [RCV002666920]	uncertain significance	17	68343663	68343663	Human		name
156212366	CV2018930	single nucleotide variant	NM_001267727.2(ARSG):c.163T>C (p.Trp55Arg)	not provided [RCV002700676]	uncertain significance	17	68307656	68307656	Human		name
156142247	CV2032989	single nucleotide variant	NM_001267727.2(ARSG):c.1044C>T (p.Tyr348=)	not provided [RCV002740940]	likely benign	17	68385125	68385125	Human		name
156064192	CV2057620	single nucleotide variant	NM_001267727.2(ARSG):c.176A>T (p.Lys59Met)	not provided [RCV002797198]	uncertain significance	17	68307669	68307669	Human		name
156191231	CV2066388	single nucleotide variant	NM_001267727.2(ARSG):c.281G>A (p.Gly94Asp)	not provided [RCV002828615]	uncertain significance	17	68343666	68343666	Human		name
156151367	CV2124964	single nucleotide variant	NM_001267727.2(ARSG):c.1467C>T (p.Val489=)	not provided [RCV002928913]	likely benign	17	68420352	68420352	Human		name
156201881	CV2179032	single nucleotide variant	NM_001267727.2(ARSG):c.286C>T (p.Leu96Phe)	not provided [RCV003024481]	uncertain significance	17	68343671	68343671	Human		name
156098066	CV2183702	single nucleotide variant	NM_001267727.2(ARSG):c.1038G>T (p.Leu346=)	not provided [RCV003054618]	likely benign	17	68385119	68385119	Human		name
156279705	CV2325321	single nucleotide variant	NM_001267727.2(ARSG):c.137T>C (p.Met46Thr)	not specified [RCV004177707]	uncertain significance	17	68307630	68307630	Human		name
401798334	CV2741428	single nucleotide variant	NM_001267727.2(ARSG):c.275T>C (p.Leu92Pro)	Usher syndrome, type 4 [RCV003322647]	pathogenic	17	68343660	68343660	Human	1	name
405218876	CV2968816	single nucleotide variant	NM_001267727.2(ARSG):c.1125G>A (p.Leu375=)	not provided [RCV003680387]	likely benign	17	68395106	68395106	Human		name
402515225	CV2991548	duplication	NM_001267727.2(ARSG):c.829dup (p.Asp277fs)	not provided [RCV003689787]	pathogenic	17	68368670	68368671	Human		name
402473560	CV3010148	single nucleotide variant	NM_001267727.2(ARSG):c.1395T>C (p.Ala465=)	not provided [RCV003693618]	likely benign	17	68420280	68420280	Human		name
405194135	CV3128555	single nucleotide variant	NM_001267727.2(ARSG):c.217A>G (p.Arg73Gly)	not provided [RCV003821292]	uncertain significance	17	68307710	68307710	Human		name
596947458	CV3549013	single nucleotide variant	NM_001267727.2(ARSG):c.167C>T (p.Ala56Val)	not provided [RCV004811337]	uncertain significance	17	68307660	68307660	Human		name
597847592	CV3736732	single nucleotide variant	NM_001267727.2(ARSG):c.1150C>A (p.Arg384=)	not provided [RCV005065891]	likely benign	17	68395131	68395131	Human		name
597842978	CV3736777	single nucleotide variant	NM_001267727.2(ARSG):c.1530T>A (p.Thr510=)	not provided [RCV005065936]	likely benign	17	68420415	68420415	Human		name
597847738	CV3783740	single nucleotide variant	NM_001267727.2(ARSG):c.1437G>C (p.Leu479=)	not provided [RCV005124236]	likely benign	17	68420322	68420322	Human		name
597968831	CV3791084	deletion	NM_001267727.2(ARSG):c.687del (p.Gln229fs)	not provided [RCV005141116]	pathogenic	17	68356787	68356787	Human		name
597851630	CV3819359	single nucleotide variant	NM_001267727.2(ARSG):c.1575A>C (p.Ala525=)	not provided [RCV005159169]	likely benign	17	68420460	68420460	Human		name
597884292	CV3858061	deletion	NM_001267727.2(ARSG):c.969del (p.Trp323fs)	not provided [RCV005199489]	pathogenic	17	68370510	68370510	Human		name
13802077	CV576301	single nucleotide variant	NM_001267727.2(ARSG):c.133G>T (p.Asp45Tyr)	Usher syndrome [RCV001002872]\|Usher syndrome, type 4 [RCV000710003]	pathogenic	17	68307626	68307626	Human	2	name
15189407	CV704325	single nucleotide variant	NM_001267727.2(ARSG):c.1071C>T (p.Val357=)	not provided [RCV000954166]	benign\|likely benign	17	68385152	68385152	Human		name
15167214	CV704326	single nucleotide variant	NM_001267727.2(ARSG):c.1485C>T (p.Asn495=)	not provided [RCV000949010]	benign	17	68420370	68420370	Human		name
26887887	CV846105	single nucleotide variant	NM_001267727.2(ARSG):c.100C>T (p.Gln34Ter)	not provided [RCV001056910]	pathogenic\|uncertain significance	17	68307593	68307593	Human		name
26891153	CV846106	single nucleotide variant	NM_001267727.2(ARSG):c.195T>A (p.Asp65Glu)	not provided [RCV001060168]	uncertain significance	17	68307688	68307688	Human		name
26885031	CV846110	duplication	NM_001267727.2(ARSG):c.701dup (p.Ser235fs)	not provided [RCV001052949]	pathogenic\|uncertain significance	17	68356800	68356801	Human		name
38470027	CV938192	single nucleotide variant	NM_001267727.2(ARSG):c.283C>T (p.Arg95Trp)	not provided [RCV001202497]	pathogenic\|uncertain significance	17	68343668	68343668	Human		name
38466096	CV938193	single nucleotide variant	NM_001267727.2(ARSG):c.296G>A (p.Arg99His)	not provided [RCV001212738]	uncertain significance	17	68343681	68343681	Human		name
38480713	CV950239	single nucleotide variant	NM_001267727.2(ARSG):c.253T>C (p.Ser85Pro)	Usher syndrome, type 4 [RCV001281351]\|not provided [RCV001234820]	pathogenic\|uncertain significance	17	68343638	68343638	Human	1	name
38481234	CV950240	single nucleotide variant	NM_001267727.2(ARSG):c.284G>A (p.Arg95Gln)	not provided [RCV001235028]	uncertain significance	17	68343669	68343669	Human		name
38463090	CV958282	single nucleotide variant	NM_001267727.2(ARSG):c.280G>A (p.Gly94Ser)	not provided [RCV001247209]	uncertain significance	17	68343665	68343665	Human		name
126758784	CV997886	single nucleotide variant	NM_001267727.2(ARSG):c.130G>A (p.Asp44Asn)	Usher syndrome, type 4 [RCV001375495]\|not provided [RCV001299296]	pathogenic\|likely pathogenic\|uncertain significance	17	68307623	68307623	Human	1	name
126748022	CV1013080	single nucleotide variant	NM_001267727.2(ARSG):c.496G>T (p.Gly166Cys)	not provided [RCV001326262]	uncertain significance	17	68351616	68351616	Human		name
126734587	CV1013081	single nucleotide variant	NM_001267727.2(ARSG):c.931G>A (p.Glu311Lys)	not provided [RCV001313593]	uncertain significance	17	68370473	68370473	Human		name
126916545	CV1050597	single nucleotide variant	NM_001267727.2(ARSG):c.598G>A (p.Ala200Thr)	not provided [RCV001371569]	uncertain significance	17	68356698	68356698	Human		name
126916063	CV1050598	single nucleotide variant	NM_001267727.2(ARSG):c.638C>T (p.Pro213Leu)	not provided [RCV001371281]	uncertain significance	17	68356738	68356738	Human		name
126921376	CV1050599	single nucleotide variant	NM_001267727.2(ARSG):c.698G>A (p.Arg233His)	not provided [RCV001363440]\|not specified [RCV004857793]	likely benign\|uncertain significance	17	68356798	68356798	Human		name
126912292	CV1050600	single nucleotide variant	NM_001267727.2(ARSG):c.731A>G (p.Tyr244Cys)	not provided [RCV001369662]	uncertain significance	17	68368574	68368574	Human		name
127280623	CV1083474	single nucleotide variant	NM_001267727.2(ARSG):c.835C>G (p.Leu279Val)	ARSG-related disorder [RCV004756239]\|not provided [RCV001409909]	likely benign	17	68368678	68368678	Human	1	name , trait , alternate_id
127315943	CV1158105	single nucleotide variant	NM_001267727.2(ARSG):c.595G>A (p.Val199Met)	ARSG-related disorder [RCV003966124]\|not provided [RCV001520222]	benign	17	68356695	68356695	Human	1	name , trait , alternate_id
127301527	CV1158107	single nucleotide variant	NM_001267727.2(ARSG):c.707C>G (p.Thr236Ser)	Usher syndrome, type 4 [RCV001554170]\|not provided [RCV001514724]	benign	17	68368550	68368550	Human	1	name
127301532	CV1158110	single nucleotide variant	NM_001267727.2(ARSG):c.820T>C (p.Trp274Arg)	Usher syndrome, type 4 [RCV001554172]\|not provided [RCV001514725]	benign	17	68368663	68368663	Human	1	name
127290042	CV1158112	single nucleotide variant	NM_001267727.2(ARSG):c.976C>G (p.Arg326Gly)	not provided [RCV001509620]	benign	17	68370518	68370518	Human		name
151784148	CV1344666	single nucleotide variant	NM_001267727.2(ARSG):c.344C>T (p.Pro115Leu)	not provided [RCV001989405]	uncertain significance	17	68343729	68343729	Human		name
151828663	CV1362259	duplication	NM_001267727.2(ARSG):c.1367dup (p.Asn457fs)	not provided [RCV001979033]	uncertain significance	17	68420248	68420249	Human		name
151861152	CV1364883	single nucleotide variant	NM_001267727.2(ARSG):c.445A>T (p.Asn149Tyr)	not provided [RCV002017771]	uncertain significance	17	68347163	68347163	Human		name
151844751	CV1372289	single nucleotide variant	NM_001267727.2(ARSG):c.860T>C (p.Val287Ala)	not provided [RCV001995187]	uncertain significance	17	68368703	68368703	Human		name
151797285	CV1377013	single nucleotide variant	NM_001267727.2(ARSG):c.938C>T (p.Ala313Val)	not provided [RCV001917380]	uncertain significance	17	68370480	68370480	Human		name
151798143	CV1377169	deletion	NM_001267727.2(ARSG):c.1545del (p.Tyr516fs)	not provided [RCV001917423]	uncertain significance	17	68420428	68420428	Human		name
151823697	CV1378478	single nucleotide variant	NM_001267727.2(ARSG):c.570C>A (p.Asn190Lys)	not provided [RCV002050049]	uncertain significance	17	68356670	68356670	Human		name
151836365	CV1383044	single nucleotide variant	NM_001267727.2(ARSG):c.995C>G (p.Ala332Gly)	not provided [RCV001935599]	uncertain significance	17	68385076	68385076	Human		name
151794843	CV1393095	single nucleotide variant	NM_001267727.2(ARSG):c.625A>G (p.Ile209Val)	not provided [RCV001952386]	uncertain significance	17	68356725	68356725	Human		name
151730286	CV1413035	single nucleotide variant	NM_001267727.2(ARSG):c.862G>A (p.Asp288Asn)	not provided [RCV002004701]	uncertain significance	17	68368705	68368705	Human		name
151720364	CV1420820	single nucleotide variant	NM_001267727.2(ARSG):c.539C>T (p.Ala180Val)	not provided [RCV002039985]	uncertain significance	17	68351659	68351659	Human		name
151782838	CV1422348	single nucleotide variant	NM_001267727.2(ARSG):c.470T>A (p.Phe157Tyr)	not provided [RCV001972239]	uncertain significance	17	68351590	68351590	Human		name
151861726	CV1423465	single nucleotide variant	NM_001267727.2(ARSG):c.790C>T (p.Arg264Trp)	not provided [RCV001997216]	uncertain significance	17	68368633	68368633	Human		name
151776056	CV1424341	single nucleotide variant	NM_001267727.2(ARSG):c.450C>G (p.Phe150Leu)	not provided [RCV002025817]	uncertain significance	17	68347168	68347168	Human		name
151823206	CV1425110	single nucleotide variant	NM_001267727.2(ARSG):c.748A>G (p.Met250Val)	not provided [RCV001919780]\|not specified [RCV004847855]	uncertain significance	17	68368591	68368591	Human		name
151775224	CV1427337	single nucleotide variant	NM_001267727.2(ARSG):c.526C>T (p.Pro176Ser)	not provided [RCV001864452]	uncertain significance	17	68351646	68351646	Human		name
151748128	CV1432642	single nucleotide variant	NM_001267727.2(ARSG):c.934C>G (p.Leu312Val)	not provided [RCV001985979]\|not specified [RCV004042421]	uncertain significance	17	68370476	68370476	Human		name
151865946	CV1484377	single nucleotide variant	NM_001267727.2(ARSG):c.307A>C (p.Thr103Pro)	not provided [RCV001959826]	uncertain significance	17	68343692	68343692	Human		name
151782375	CV1486861	single nucleotide variant	NM_001267727.2(ARSG):c.724C>G (p.Leu242Val)	not provided [RCV001916000]	uncertain significance	17	68368567	68368567	Human		name
151873156	CV1487991	deletion	NM_001267727.2(ARSG):c.1267del (p.Val423fs)	not provided [RCV001981565]	pathogenic\|uncertain significance	17	68401414	68401414	Human		name
151871144	CV1488734	single nucleotide variant	NM_001267727.2(ARSG):c.311G>A (p.Arg104His)	not provided [RCV002035681]	uncertain significance	17	68343696	68343696	Human		name
151873473	CV1493249	single nucleotide variant	NM_001267727.2(ARSG):c.653G>T (p.Ser218Ile)	not provided [RCV001906780]\|not specified [RCV004656726]	uncertain significance	17	68356753	68356753	Human		name
151864935	CV1494984	single nucleotide variant	NM_001267727.2(ARSG):c.527C>T (p.Pro176Leu)	not provided [RCV001980599]\|not specified [RCV004847882]	uncertain significance	17	68351647	68351647	Human		name
151843781	CV1499895	single nucleotide variant	NM_001267727.2(ARSG):c.298A>G (p.Asn100Asp)	not provided [RCV001921853]	uncertain significance	17	68343683	68343683	Human		name
151714736	CV1501884	deletion	NM_001267727.2(ARSG):c.1552del (p.Ile518fs)	not provided [RCV002017106]	uncertain significance	17	68420435	68420435	Human		name
151796801	CV1503751	single nucleotide variant	NM_001267727.2(ARSG):c.505G>A (p.Asp169Asn)	not provided [RCV001973548]	uncertain significance	17	68351625	68351625	Human		name
151719977	CV1505965	single nucleotide variant	NM_001267727.2(ARSG):c.773A>C (p.Gln258Pro)	not provided [RCV002039930]	uncertain significance	17	68368616	68368616	Human		name
151744524	CV1507293	single nucleotide variant	NM_001267727.2(ARSG):c.922C>T (p.Gln308Ter)	not provided [RCV001985580]	pathogenic\|uncertain significance	17	68370464	68370464	Human		name
151815129	CV1507551	single nucleotide variant	NM_001267727.2(ARSG):c.794G>A (p.Gly265Asp)	not provided [RCV001954208]	uncertain significance	17	68368637	68368637	Human		name
152090191	CV1594013	single nucleotide variant	NM_001267727.2(ARSG):c.766G>A (p.Val256Met)	not provided [RCV002171721]	likely benign	17	68368609	68368609	Human		name
155691058	CV1777983	single nucleotide variant	NM_001267727.2(ARSG):c.331G>A (p.Val111Met)	not provided [RCV002299301]	uncertain significance	17	68343716	68343716	Human		name
155936302	CV1917010	single nucleotide variant	NM_001267727.2(ARSG):c.986G>A (p.Gly329Glu)	not provided [RCV002615330]	uncertain significance	17	68385067	68385067	Human		name
156409843	CV1961977	single nucleotide variant	NM_001267727.2(ARSG):c.914C>T (p.Pro305Leu)	not provided [RCV002586955]	uncertain significance	17	68370456	68370456	Human		name
156393066	CV1987882	single nucleotide variant	NM_001267727.2(ARSG):c.854A>G (p.Asp285Gly)	not provided [RCV002635175]	uncertain significance	17	68368697	68368697	Human		name
156233725	CV1988149	single nucleotide variant	NM_001267727.2(ARSG):c.794G>T (p.Gly265Val)	not provided [RCV002626889]	uncertain significance	17	68368637	68368637	Human		name
156388325	CV1995991	single nucleotide variant	NM_001267727.2(ARSG):c.383C>T (p.Ala128Val)	not provided [RCV002654159]	uncertain significance	17	68343768	68343768	Human		name
156349362	CV2001000	single nucleotide variant	NM_001267727.2(ARSG):c.886T>C (p.Phe296Leu)	not provided [RCV002675480]	uncertain significance	17	68368729	68368729	Human		name
155941176	CV2006189	single nucleotide variant	NM_001267727.2(ARSG):c.590C>T (p.Thr197Ile)	not provided [RCV002685472]	uncertain significance	17	68356690	68356690	Human		name
156094923	CV2010514	single nucleotide variant	NM_001267727.2(ARSG):c.977G>T (p.Arg326Leu)	not provided [RCV002695080]	uncertain significance	17	68370519	68370519	Human		name
156326736	CV2054187	single nucleotide variant	NM_001267727.2(ARSG):c.907A>C (p.Asn303His)	not provided [RCV002810438]	uncertain significance	17	68370449	68370449	Human		name
156325202	CV2097516	single nucleotide variant	NM_001267727.2(ARSG):c.397G>A (p.Gly133Arg)	not provided [RCV002899583]	uncertain significance	17	68343782	68343782	Human		name
156156259	CV2098755	single nucleotide variant	NM_001267727.2(ARSG):c.808G>A (p.Gly270Ser)	not provided [RCV002890823]	uncertain significance	17	68368651	68368651	Human		name
156250922	CV2116937	single nucleotide variant	NM_001267727.2(ARSG):c.583T>A (p.Cys195Ser)	not provided [RCV002933545]	uncertain significance	17	68356683	68356683	Human		name
156053787	CV2165418	single nucleotide variant	NM_001267727.2(ARSG):c.415C>A (p.His139Asn)	not provided [RCV003019487]	uncertain significance	17	68347133	68347133	Human		name
156233182	CV2173164	single nucleotide variant	NM_001267727.2(ARSG):c.455G>C (p.Gly152Ala)	not provided [RCV003059385]	uncertain significance	17	68351575	68351575	Human		name
156194215	CV2175404	single nucleotide variant	NM_001267727.2(ARSG):c.532T>C (p.Cys178Arg)	not provided [RCV003057938]	uncertain significance	17	68351652	68351652	Human		name
156087244	CV2184560	single nucleotide variant	NM_001267727.2(ARSG):c.758C>T (p.Pro253Leu)	not provided [RCV003054232]	uncertain significance	17	68368601	68368601	Human		name
401798335	CV2741429	single nucleotide variant	NM_001267727.2(ARSG):c.588C>A (p.Tyr196Ter)	Usher syndrome, type 4 [RCV003322648]	pathogenic	17	68356688	68356688	Human	1	name
401798336	CV2741430	deletion	NM_001267727.2(ARSG):c.705-3940_982+2952del	Usher syndrome, type 4 [RCV003322649]	pathogenic	17	68364558	68373426	Human	1	name
405149299	CV2881776	single nucleotide variant	NM_001267727.2(ARSG):c.390C>A (p.Tyr130Ter)	not provided [RCV003561508]	pathogenic	17	68343775	68343775	Human		name
405664473	CV3286502	single nucleotide variant	NM_001267727.2(ARSG):c.650G>A (p.Ser217Asn)	not specified [RCV004418240]	uncertain significance	17	68356750	68356750	Human		name
405664479	CV3286503	single nucleotide variant	NM_001267727.2(ARSG):c.698G>T (p.Arg233Leu)	not specified [RCV004418241]	uncertain significance	17	68356798	68356798	Human		name
405664490	CV3286505	single nucleotide variant	NM_001267727.2(ARSG):c.809G>A (p.Gly270Asp)	not specified [RCV004418243]	uncertain significance	17	68368652	68368652	Human		name
596942021	CV3408368	single nucleotide variant	NM_001267727.2(ARSG):c.889C>G (p.Leu297Val)	Retinal dystrophy [RCV004816039]	uncertain significance	17	68368732	68368732	Human	2	name
407514521	CV3480093	single nucleotide variant	NM_001267727.2(ARSG):c.439C>A (p.His147Asn)	not specified [RCV004674598]	uncertain significance	17	68347157	68347157	Human		name
407461580	CV3480099	single nucleotide variant	NM_001267727.2(ARSG):c.991C>A (p.Pro331Thr)	not specified [RCV004658762]	uncertain significance	17	68385072	68385072	Human		name
597765538	CV3593611	single nucleotide variant	NM_001267727.2(ARSG):c.589A>T (p.Thr197Ser)	not specified [RCV004850064]	uncertain significance	17	68356689	68356689	Human		name
597944202	CV3782776	single nucleotide variant	NM_001267727.2(ARSG):c.406G>T (p.Gly136Cys)	not provided [RCV005134316]	uncertain significance	17	68343791	68343791	Human		name
598227667	CV3896016	single nucleotide variant	NM_001267727.2(ARSG):c.821G>A (p.Trp274Ter)	Usher syndrome, type 4 [RCV005362274]	likely pathogenic	17	68368664	68368664	Human	1	name
598253447	CV3898708	single nucleotide variant	NM_001267727.2(ARSG):c.629T>A (p.Val210Glu)	not specified [RCV005259586]	uncertain significance	17	68356729	68356729	Human		name
26919314	CV846107	single nucleotide variant	NM_001267727.2(ARSG):c.452G>A (p.Arg151His)	not provided [RCV001045236]\|not specified [RCV004031389]	uncertain significance	17	68347170	68347170	Human		name
26889529	CV846108	single nucleotide variant	NM_001267727.2(ARSG):c.529C>T (p.Pro177Ser)	ARSG-related disorder [RCV004756162]\|not provided [RCV001058273]	likely benign\|uncertain significance	17	68351649	68351649	Human	1	name , trait , alternate_id
26916699	CV846109	single nucleotide variant	NM_001267727.2(ARSG):c.683C>T (p.Thr228Ile)	not provided [RCV001040828]	uncertain significance	17	68356783	68356783	Human		name
26896280	CV846111	single nucleotide variant	NM_001267727.2(ARSG):c.712G>A (p.Gly238Arg)	not provided [RCV001064561]	uncertain significance	17	68368555	68368555	Human		name
26919921	CV846112	single nucleotide variant	NM_001267727.2(ARSG):c.754G>A (p.Val252Met)	not provided [RCV001046645]	uncertain significance	17	68368597	68368597	Human		name
26885052	CV846113	single nucleotide variant	NM_001267727.2(ARSG):c.785C>T (p.Ala262Val)	not provided [RCV001052959]	uncertain significance	17	68368628	68368628	Human		name
38483059	CV938194	single nucleotide variant	NM_001267727.2(ARSG):c.430G>A (p.Gly144Ser)	not provided [RCV001207501]\|not specified [RCV004659391]	uncertain significance	17	68347148	68347148	Human		name
38471562	CV938195	single nucleotide variant	NM_001267727.2(ARSG):c.793G>A (p.Gly265Ser)	not provided [RCV001213803]\|not specified [RCV004033907]	uncertain significance	17	68368636	68368636	Human		name
38472593	CV950241	single nucleotide variant	NM_001267727.2(ARSG):c.334G>A (p.Gly112Arg)	not provided [RCV001231572]	uncertain significance	17	68343719	68343719	Human		name
38466549	CV950242	single nucleotide variant	NM_001267727.2(ARSG):c.391G>A (p.Val131Ile)	not provided [RCV001230311]	uncertain significance	17	68343776	68343776	Human		name
38469119	CV950243	single nucleotide variant	NM_001267727.2(ARSG):c.687G>C (p.Gln229His)	not provided [RCV001230639]	uncertain significance	17	68356787	68356787	Human		name
38497283	CV950244	single nucleotide variant	NM_001267727.2(ARSG):c.697C>T (p.Arg233Cys)	not provided [RCV001226970]\|not specified [RCV004847785]	uncertain significance	17	68356797	68356797	Human		name
38479941	CV950246	single nucleotide variant	NM_001267727.2(ARSG):c.827T>C (p.Met276Thr)	not provided [RCV001234527]\|not specified [RCV004033246]	uncertain significance	17	68368670	68368670	Human		name
38463936	CV950247	single nucleotide variant	NM_001267727.2(ARSG):c.976C>T (p.Arg326Cys)	not provided [RCV001229916]	uncertain significance	17	68370518	68370518	Human		name
38474265	CV950248	single nucleotide variant	NM_001267727.2(ARSG):c.988A>T (p.Ser330Cys)	not provided [RCV001232139]	uncertain significance	17	68385069	68385069	Human		name
38456884	CV950251	deletion	NM_001267727.2(ARSG):c.1353del (p.Lys451fs)	not provided [RCV001228498]	uncertain significance	17	68420238	68420238	Human		name
38456448	CV958283	single nucleotide variant	NM_001267727.2(ARSG):c.787C>A (p.Pro263Thr)	not provided [RCV001245776]\|not specified [RCV004659448]	uncertain significance	17	68368630	68368630	Human		name
41407799	CV980508	deletion	NM_001267727.2(ARSG):c.1326del (p.Ser443fs)	Usher syndrome, type 4 [RCV001281078]\|not provided [RCV001871630]	pathogenic\|uncertain significance	17	68420209	68420209	Human	1	name
41408024	CV980562	single nucleotide variant	NM_001267727.2(ARSG):c.338G>A (p.Gly113Asp)	Usher syndrome, type 4 [RCV001281350]\|not provided [RCV003770432]	pathogenic	17	68343723	68343723	Human	1	name
126757939	CV997887	single nucleotide variant	NM_001267727.2(ARSG):c.451C>T (p.Arg151Cys)	not provided [RCV001299037]	uncertain significance	17	68347169	68347169	Human		name
126766449	CV997888	single nucleotide variant	NM_001267727.2(ARSG):c.506A>C (p.Asp169Ala)	not provided [RCV001301883]	uncertain significance	17	68351626	68351626	Human		name
126767337	CV997889	single nucleotide variant	NM_001267727.2(ARSG):c.977G>A (p.Arg326His)	not provided [RCV001302245]\|not specified [RCV004036232]	likely benign\|uncertain significance	17	68370519	68370519	Human		name
126763101	CV1033603	single nucleotide variant	NM_001267727.2(ARSG):c.1385C>T (p.Thr462Ile)	not provided [RCV001341158]	uncertain significance	17	68420270	68420270	Human		name
126915934	CV1050601	single nucleotide variant	NM_001267727.2(ARSG):c.1025G>A (p.Arg342Gln)	not provided [RCV001360275]\|not specified [RCV004847814]	uncertain significance	17	68385106	68385106	Human		name
126916616	CV1050602	single nucleotide variant	NM_001267727.2(ARSG):c.1046G>T (p.Trp349Leu)	not provided [RCV001360685]	uncertain significance	17	68385127	68385127	Human		name
126921264	CV1050603	single nucleotide variant	NM_001267727.2(ARSG):c.1120G>C (p.Ala374Pro)	not provided [RCV001374291]\|not specified [RCV004037608]	uncertain significance	17	68395101	68395101	Human		name
126920059	CV1050604	single nucleotide variant	NM_001267727.2(ARSG):c.1171G>A (p.Val391Ile)	not provided [RCV001373590]	uncertain significance	17	68395152	68395152	Human		name
126920874	CV1050605	single nucleotide variant	NM_001267727.2(ARSG):c.1279C>T (p.Arg427Cys)	not provided [RCV001374066]\|not specified [RCV005262456]	uncertain significance	17	68401426	68401426	Human		name
126916261	CV1050606	single nucleotide variant	NM_001267727.2(ARSG):c.1381G>A (p.Asp461Asn)	not provided [RCV001360475]\|not specified [RCV004857791]	uncertain significance	17	68420266	68420266	Human		name
126912519	CV1050607	single nucleotide variant	NM_001267727.2(ARSG):c.1465G>A (p.Val489Ile)	not provided [RCV001369763]	uncertain significance	17	68420350	68420350	Human		name
126910258	CV1053440	single nucleotide variant	NM_001267727.2(ARSG):c.1270C>T (p.Arg424Cys)	Usher syndrome, type 4 [RCV001375496]	pathogenic	17	68401417	68401417	Human	1	name
127278737	CV1083479	single nucleotide variant	NM_001267727.2(ARSG):c.1303G>A (p.Gly435Ser)	not provided [RCV001408659]	likely benign	17	68401450	68401450	Human		name
127330716	CV1126647	single nucleotide variant	NM_001267727.2(ARSG):c.1199A>G (p.Gln400Arg)	not provided [RCV001471067]	likely benign	17	68395180	68395180	Human		name
127303648	CV1158115	single nucleotide variant	NM_001267727.2(ARSG):c.1154G>A (p.Arg385His)	not provided [RCV001515561]	benign	17	68395135	68395135	Human		name
127302103	CV1158116	single nucleotide variant	NM_001267727.2(ARSG):c.1192C>T (p.Arg398Trp)	not provided [RCV001514937]	benign	17	68395173	68395173	Human		name
127315781	CV1158118	single nucleotide variant	NM_001267727.2(ARSG):c.1331C>T (p.Thr444Met)	not provided [RCV001520149]	benign	17	68420216	68420216	Human		name
151781693	CV1338433	single nucleotide variant	NM_001267727.2(ARSG):c.1415G>A (p.Gly472Asp)	not provided [RCV001884796]	uncertain significance	17	68420300	68420300	Human		name
151716659	CV1342987	single nucleotide variant	NM_001267727.2(ARSG):c.1340A>G (p.Glu447Gly)	not provided [RCV002024128]	uncertain significance	17	68420225	68420225	Human		name
151828501	CV1348265	single nucleotide variant	NM_001267727.2(ARSG):c.1004C>T (p.Thr335Met)	ARSG-related disorder [RCV003394296]\|not provided [RCV001870298]	uncertain significance	17	68385085	68385085	Human	1	name , trait , alternate_id
151831577	CV1355980	single nucleotide variant	NM_001267727.2(ARSG):c.1228A>G (p.Asn410Asp)	not provided [RCV002030856]\|not specified [RCV004656845]	uncertain significance	17	68401375	68401375	Human		name
151749800	CV1357254	single nucleotide variant	NM_001267727.2(ARSG):c.1151G>A (p.Arg384Gln)	not provided [RCV001872140]	uncertain significance	17	68395132	68395132	Human		name
151807246	CV1373320	single nucleotide variant	NM_001267727.2(ARSG):c.1330A>G (p.Thr444Ala)	not provided [RCV001934483]	uncertain significance	17	68420215	68420215	Human		name
151716380	CV1381167	single nucleotide variant	NM_001267727.2(ARSG):c.1448G>T (p.Arg483Ile)	not provided [RCV002023345]	uncertain significance	17	68420333	68420333	Human		name
151724883	CV1382588	single nucleotide variant	NM_001267727.2(ARSG):c.1560C>A (p.Cys520Ter)	not provided [RCV002049044]	uncertain significance	17	68420445	68420445	Human		name
151718884	CV1382653	single nucleotide variant	NM_001267727.2(ARSG):c.1501G>A (p.Ala501Thr)	not provided [RCV002031460]\|not specified [RCV004044837]	conflicting interpretations of pathogenicity\|uncertain significance	17	68420386	68420386	Human		name
151728265	CV1388604	single nucleotide variant	NM_001267727.2(ARSG):c.1282T>C (p.Tyr428His)	not provided [RCV001966848]	uncertain significance	17	68401429	68401429	Human		name
151824231	CV1391500	single nucleotide variant	NM_001267727.2(ARSG):c.1516G>A (p.Asp506Asn)	not provided [RCV001970786]	uncertain significance	17	68420401	68420401	Human		name
151845063	CV1420331	single nucleotide variant	NM_001267727.2(ARSG):c.1171G>T (p.Val391Phe)	not provided [RCV001978166]	uncertain significance	17	68395152	68395152	Human		name
151782397	CV1422272	single nucleotide variant	NM_001267727.2(ARSG):c.1177G>A (p.Glu393Lys)	not provided [RCV001972200]	uncertain significance	17	68395158	68395158	Human		name
151887393	CV1426786	single nucleotide variant	NM_001267727.2(ARSG):c.1093G>A (p.Val365Met)	not provided [RCV002038178]\|not specified [RCV004046185]	uncertain significance	17	68395074	68395074	Human		name
151786308	CV1427650	single nucleotide variant	NM_001267727.2(ARSG):c.1351A>G (p.Lys451Glu)	not provided [RCV001893575]\|not specified [RCV005262592]	likely benign\|uncertain significance	17	68420236	68420236	Human		name
151710996	CV1428988	single nucleotide variant	NM_001267727.2(ARSG):c.1438C>T (p.Pro480Ser)	not provided [RCV002000379]	uncertain significance	17	68420323	68420323	Human		name
151827540	CV1439357	single nucleotide variant	NM_001267727.2(ARSG):c.1315G>A (p.Ala439Thr)	not provided [RCV001976872]	uncertain significance	17	68420200	68420200	Human		name
151768239	CV1450767	single nucleotide variant	NM_001267727.2(ARSG):c.1000C>A (p.Gln334Lys)	not provided [RCV001929263]	uncertain significance	17	68385081	68385081	Human		name
151802491	CV1461512	single nucleotide variant	NM_001267727.2(ARSG):c.1307G>A (p.Gly436Glu)	not provided [RCV001925964]	uncertain significance	17	68420192	68420192	Human		name
151773458	CV1470260	single nucleotide variant	NM_001267727.2(ARSG):c.1418C>T (p.Ala473Val)	not provided [RCV001871133]\|not specified [RCV004040672]	uncertain significance	17	68420303	68420303	Human		name
151887963	CV1472129	single nucleotide variant	NM_001267727.2(ARSG):c.1171G>C (p.Val391Leu)	not provided [RCV002000989]	uncertain significance	17	68395152	68395152	Human		name
151798680	CV1483432	single nucleotide variant	NM_001267727.2(ARSG):c.1550A>C (p.Gln517Pro)	not provided [RCV001918333]	uncertain significance	17	68420435	68420435	Human		name
151837542	CV1501196	single nucleotide variant	NM_001267727.2(ARSG):c.1274T>G (p.Leu425Arg)	not provided [RCV001977307]\|not specified [RCV004042220]	uncertain significance	17	68401421	68401421	Human		name
156253818	CV1967326	single nucleotide variant	NM_001267727.2(ARSG):c.1561C>T (p.Arg521Cys)	not provided [RCV002597558]\|not specified [RCV004857903]	uncertain significance	17	68420446	68420446	Human		name
156416998	CV1970146	single nucleotide variant	NM_001267727.2(ARSG):c.1490A>C (p.Asn497Thr)	not provided [RCV002589981]	uncertain significance	17	68420375	68420375	Human		name
155924821	CV1987719	single nucleotide variant	NM_001267727.2(ARSG):c.1129C>G (p.Gln377Glu)	not provided [RCV002614721]	uncertain significance	17	68395110	68395110	Human		name
156010995	CV1989774	single nucleotide variant	NM_001267727.2(ARSG):c.1024C>T (p.Arg342Trp)	Usher syndrome, type 4 [RCV003322635]\|not provided [RCV002636221]	pathogenic\|uncertain significance	17	68385105	68385105	Human	1	name
156349964	CV2008668	single nucleotide variant	NM_001267727.2(ARSG):c.1452G>C (p.Lys484Asn)	not provided [RCV002720111]	uncertain significance	17	68420337	68420337	Human		name
155934593	CV2035306	single nucleotide variant	NM_001267727.2(ARSG):c.1310C>T (p.Ala437Val)	not provided [RCV002751358]\|not specified [RCV004067970]	uncertain significance	17	68420195	68420195	Human		name
156158660	CV2049419	single nucleotide variant	NM_001267727.2(ARSG):c.1564T>C (p.Cys522Arg)	not provided [RCV002801547]	uncertain significance	17	68420449	68420449	Human		name
155951273	CV2058765	single nucleotide variant	NM_001267727.2(ARSG):c.1406A>G (p.Glu469Gly)	not provided [RCV002816283]	uncertain significance	17	68420291	68420291	Human		name
156305267	CV2066884	single nucleotide variant	NM_001267727.2(ARSG):c.1276G>T (p.Glu426Ter)	not provided [RCV002833825]	pathogenic\|uncertain significance	17	68401423	68401423	Human		name
156216647	CV2111011	single nucleotide variant	NM_001267727.2(ARSG):c.1153C>T (p.Arg385Cys)	not provided [RCV002932287]\|not specified [RCV004066247]	uncertain significance	17	68395134	68395134	Human		name
155935621	CV2125655	single nucleotide variant	NM_001267727.2(ARSG):c.1574C>T (p.Ala525Val)	not provided [RCV002970921]\|not specified [RCV004068155]	uncertain significance	17	68420459	68420459	Human		name
155943072	CV2143101	single nucleotide variant	NM_001267727.2(ARSG):c.1573G>C (p.Ala525Pro)	not provided [RCV002994180]	uncertain significance	17	68420458	68420458	Human		name
155944260	CV2143190	single nucleotide variant	NM_001267727.2(ARSG):c.1025G>T (p.Arg342Leu)	not provided [RCV002994250]	uncertain significance	17	68385106	68385106	Human		name
156111221	CV2146142	single nucleotide variant	NM_001267727.2(ARSG):c.1518C>A (p.Asp506Glu)	not provided [RCV003021420]	uncertain significance	17	68420403	68420403	Human		name
156020697	CV2147992	single nucleotide variant	NM_001267727.2(ARSG):c.1316C>T (p.Ala439Val)	not provided [RCV003018214]	uncertain significance	17	68420201	68420201	Human		name
156362864	CV2159042	single nucleotide variant	NM_001267727.2(ARSG):c.1148G>A (p.Gly383Glu)	not provided [RCV003031687]	uncertain significance	17	68395129	68395129	Human		name
155997751	CV2168829	indel	NM_001267727.2(ARSG):c.983-19_983-18delinsTT	not provided [RCV003017131]	uncertain significance	17	68385045	68385046	Human		name
156065400	CV2175921	single nucleotide variant	NM_001267727.2(ARSG):c.1519C>A (p.Pro507Thr)	not provided [RCV003053549]	uncertain significance	17	68420404	68420404	Human		name
402472518	CV2961331	single nucleotide variant	NM_001267727.2(ARSG):c.1429G>C (p.Ala477Pro)	not provided [RCV003675450]	uncertain significance	17	68420314	68420314	Human		name
405246076	CV3158091	single nucleotide variant	NM_001267727.2(ARSG):c.1234G>A (p.Gly412Arg)	not provided [RCV003868626]	uncertain significance	17	68401381	68401381	Human		name
404984156	CV3184320	single nucleotide variant	NM_001267727.2(ARSG):c.1280G>A (p.Arg427His)	not provided [RCV003880812]	uncertain significance	17	68401427	68401427	Human		name
597731925	CV3589754	single nucleotide variant	NM_001267727.2(ARSG):c.1229A>G (p.Asn410Ser)	not specified [RCV004863180]	uncertain significance	17	68401376	68401376	Human		name
597861581	CV3748796	single nucleotide variant	NM_001267727.2(ARSG):c.1040C>A (p.Ala347Asp)	not provided [RCV005067428]	uncertain significance	17	68385121	68385121	Human		name
597964462	CV3754363	single nucleotide variant	NM_001267727.2(ARSG):c.1046G>A (p.Trp349Ter)	not provided [RCV005082470]	pathogenic	17	68385127	68385127	Human		name
598253441	CV3898707	single nucleotide variant	NM_001267727.2(ARSG):c.1414G>A (p.Gly472Ser)	not specified [RCV005259585]	likely benign	17	68420299	68420299	Human		name
598253458	CV3898710	single nucleotide variant	NM_001267727.2(ARSG):c.1538G>A (p.Cys513Tyr)	not specified [RCV005259588]	uncertain significance	17	68420423	68420423	Human		name
15176861	CV740978	single nucleotide variant	NM_001267727.2(ARSG):c.1478T>C (p.Ile493Thr)	ARSG-related disorder [RCV003912952]\|not provided [RCV000906522]	likely benign	17	68420363	68420363	Human	1	name , trait , alternate_id
26891273	CV846114	single nucleotide variant	NM_001267727.2(ARSG):c.1060C>A (p.Pro354Thr)	not provided [RCV001060314]	uncertain significance	17	68385141	68385141	Human		name
26899520	CV846115	single nucleotide variant	NM_001267727.2(ARSG):c.1091G>A (p.Ser364Asn)	not provided [RCV001067231]	uncertain significance	17	68385172	68385172	Human		name
26922216	CV846116	single nucleotide variant	NM_001267727.2(ARSG):c.1150C>T (p.Arg384Trp)	not provided [RCV001051728]	uncertain significance	17	68395131	68395131	Human		name
26896144	CV846117	single nucleotide variant	NM_001267727.2(ARSG):c.1441G>A (p.Glu481Lys)	not provided [RCV001064497]	uncertain significance	17	68420326	68420326	Human		name
26892212	CV846118	single nucleotide variant	NM_001267727.2(ARSG):c.1486G>A (p.Asp496Asn)	not provided [RCV001061527]	uncertain significance	17	68420371	68420371	Human		name
38463723	CV938196	single nucleotide variant	NM_001267727.2(ARSG):c.1052G>A (p.Gly351Asp)	not provided [RCV001201466]	uncertain significance	17	68385133	68385133	Human		name
38474848	CV938197	single nucleotide variant	NM_001267727.2(ARSG):c.1090A>G (p.Ser364Gly)	not provided [RCV001203993]	uncertain significance	17	68385171	68385171	Human		name
38494938	CV950249	single nucleotide variant	NM_001267727.2(ARSG):c.1103T>C (p.Ile368Thr)	not provided [RCV001225401]	uncertain significance	17	68395084	68395084	Human		name
38496905	CV950250	single nucleotide variant	NM_001267727.2(ARSG):c.1193G>A (p.Arg398Gln)	not provided [RCV001226736]\|not specified [RCV004659416]	uncertain significance	17	68395174	68395174	Human		name
38495053	CV958284	single nucleotide variant	NM_001267727.2(ARSG):c.1343T>C (p.Leu448Pro)	not provided [RCV001241704]	uncertain significance	17	68420228	68420228	Human		name
126755783	CV997890	single nucleotide variant	NM_001267727.2(ARSG):c.1412G>A (p.Gly471Asp)	not provided [RCV001298427]\|not specified [RCV004036104]	uncertain significance	17	68420297	68420297	Human		name
126747040	CV997891	single nucleotide variant	NM_001267727.2(ARSG):c.1562G>A (p.Arg521His)	not provided [RCV001306187]	uncertain significance	17	68420447	68420447	Human		name
156205288	CV2401482	deletion	NM_001267727.2(ARSG):c.663_664del (p.Lys222fs)	Usher syndrome, type 4 [RCV002790020]	uncertain significance	17	68356762	68356763	Human	1	name
127336771	CV1147562	inversion	NM_001267727.2(ARSG):c.765_766inv (p.Val256Met)	not provided [RCV001492410]	likely benign	17	68368608	68368609	Human		name
151727312	CV1482418	deletion	NM_001267727.2(ARSG):c.554_556del (p.Asp185del)	not provided [RCV002020938]	uncertain significance	17	68351672	68351674	Human		name
38481610	CV950245	inversion	NM_001267727.2(ARSG):c.820_821inv (p.Trp274Gln)	not provided [RCV001235214]	uncertain significance	17	68368663	68368664	Human		name
150481660	CV1265662	deletion	NM_001267727.2(ARSG):c.1512_1531del (p.Gln505fs)	not provided [RCV001682658]	likely pathogenic	17	68420396	68420415	Human		name
156285215	CV2050141	deletion	NM_001267727.2(ARSG):c.1145_1146del (p.Gln382fs)	not provided [RCV002807129]	pathogenic\|likely pathogenic	17	68395126	68395127	Human		name
402473177	CV2998162	deletion	NM_001267727.2(ARSG):c.1413_1429del (p.Gly472fs)	not provided [RCV003686867]	uncertain significance	17	68420295	68420311	Human		name
405049154	CV3025416	microsatellite	NM_001267727.2(ARSG):c.1154_1155del (p.Arg385fs)	not provided [RCV003696881]	pathogenic	17	68395133	68395134	Human		name
151827127	CV1465226	deletion	NM_001267727.2(ARSG):c.719_727del (p.Pro240_Leu242del)	not provided [RCV002013951]	uncertain significance	17	68368560	68368568	Human		name
151825900	CV1403952	deletion	NM_001267727.2(ARSG):c.1382_1387del (p.Asp461_Thr462del)	not provided [RCV001973827]	uncertain significance	17	68420265	68420270	Human		name

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