Naaladl1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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120 records found for search term Naaladl1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
596942522	CV3408504	single nucleotide variant	NM_005468.3(NAALADL1):c.1943+6C>G	Retinal dystrophy [RCV004816175]	uncertain significance	11	65046021	65046021	Human	2	name
596944479	CV3408910	single nucleotide variant	NM_005468.3(NAALADL1):c.1198+7C>T	Optic atrophy [RCV004817563]	uncertain significance	11	65053211	65053211	Human	2	name
596944727	CV3408956	single nucleotide variant	NM_005468.3(NAALADL1):c.1509-1G>A	Optic atrophy [RCV004817609]	likely pathogenic	11	65047566	65047566	Human	2	name
8653161	CV129736	single nucleotide variant	NM_005468.2(NAALADL1):c.1198+1196A>T	Lung cancer [RCV000110223]	uncertain significance	11	65052022	65052022	Human		name
405705471	CV3327423	single nucleotide variant	NM_005468.3(NAALADL1):c.11C>T (p.Thr4Met)	not specified [RCV004461015]	uncertain significance	11	65058511	65058511	Human		name
597652862	CV3555433	single nucleotide variant	NM_005468.3(NAALADL1):c.22G>A (p.Gly8Arg)	not specified [RCV004833876]	uncertain significance	11	65058500	65058500	Human		name
156225739	CV2352678	single nucleotide variant	NM_005468.3(NAALADL1):c.85C>A (p.Pro29Thr)	not specified [RCV004198707]	uncertain significance	11	65058437	65058437	Human		name
596939844	CV3408047	single nucleotide variant	NM_005468.3(NAALADL1):c.77T>A (p.Phe26Tyr)	Retinal dystrophy [RCV004814507]	uncertain significance	11	65058445	65058445	Human	2	name
597652759	CV3555419	single nucleotide variant	NM_005468.3(NAALADL1):c.37G>A (p.Ala13Thr)	not specified [RCV004833862]	uncertain significance	11	65058485	65058485	Human		name
156155487	CV2266145	single nucleotide variant	NM_005468.3(NAALADL1):c.117C>A (p.Asp39Glu)	not specified [RCV004128732]	uncertain significance	11	65058405	65058405	Human		name
155993812	CV2286340	single nucleotide variant	NM_005468.3(NAALADL1):c.104T>A (p.Leu35Gln)	not specified [RCV004146287]	uncertain significance	11	65058418	65058418	Human		name
155993821	CV2286341	single nucleotide variant	NM_005468.3(NAALADL1):c.113A>T (p.Gln38Leu)	not specified [RCV004146288]	uncertain significance	11	65058409	65058409	Human		name
156271261	CV2286342	single nucleotide variant	NM_005468.3(NAALADL1):c.122A>C (p.Asp41Ala)	not specified [RCV004146289]	uncertain significance	11	65058400	65058400	Human		name
156074271	CV2321656	single nucleotide variant	NM_005468.3(NAALADL1):c.292G>A (p.Glu98Lys)	Retinal dystrophy [RCV004818272]\|not specified [RCV004179666]	uncertain significance	11	65058144	65058144	Human	2	name
156076774	CV2375059	single nucleotide variant	NM_005468.3(NAALADL1):c.172C>T (p.Arg58Trp)	not specified [RCV004230107]	uncertain significance	11	65058350	65058350	Human		name
401739352	CV2684064	single nucleotide variant	NM_005468.3(NAALADL1):c.256C>T (p.Arg86Cys)	not specified [RCV004295661]	uncertain significance	11	65058180	65058180	Human		name
405706071	CV3327480	single nucleotide variant	NM_005468.3(NAALADL1):c.281T>C (p.Leu94Pro)	not specified [RCV004461072]	uncertain significance	11	65058155	65058155	Human		name
596945731	CV3407598	single nucleotide variant	NM_005468.3(NAALADL1):c.134T>C (p.Leu45Pro)	Retinal dystrophy [RCV004818691]	uncertain significance	11	65058388	65058388	Human	2	name
598204517	CV3987057	single nucleotide variant	NM_005468.3(NAALADL1):c.146T>C (p.Met49Thr)	not specified [RCV005376612]	uncertain significance	11	65058376	65058376	Human		name
8653162	CV129737	single nucleotide variant	NM_005468.3(NAALADL1):c.575G>A (p.Arg192Gln)	not specified [RCV004652212]	uncertain significance	11	65057399	65057399	Human		name
155959295	CV2193849	single nucleotide variant	NM_005468.3(NAALADL1):c.482G>A (p.Gly161Asp)	not specified [RCV004074594]	uncertain significance	11	65057492	65057492	Human		name
156374920	CV2194923	single nucleotide variant	NM_005468.3(NAALADL1):c.813C>A (p.Asp271Glu)	not specified [RCV004075450]	uncertain significance	11	65054529	65054529	Human		name
156157770	CV2235346	single nucleotide variant	NM_005468.3(NAALADL1):c.406A>G (p.Asn136Asp)	not specified [RCV004109418]	uncertain significance	11	65057949	65057949	Human		name
155908914	CV2307171	single nucleotide variant	NM_005468.3(NAALADL1):c.586G>A (p.Val196Ile)	not specified [RCV004159646]	uncertain significance	11	65057388	65057388	Human		name
155916322	CV2336130	single nucleotide variant	NM_005468.3(NAALADL1):c.425G>C (p.Gly142Ala)	not specified [RCV004189723]	uncertain significance	11	65057930	65057930	Human		name
401746921	CV2678959	single nucleotide variant	NM_005468.3(NAALADL1):c.981C>G (p.Phe327Leu)	not specified [RCV004294972]	uncertain significance	11	65054261	65054261	Human		name
401736857	CV2679169	single nucleotide variant	NM_005468.3(NAALADL1):c.409G>A (p.Val137Met)	not specified [RCV004285731]	uncertain significance	11	65057946	65057946	Human		name
401719499	CV2679553	single nucleotide variant	NM_005468.3(NAALADL1):c.394C>T (p.Arg132Trp)	not specified [RCV004287854]	uncertain significance	11	65057961	65057961	Human		name
401767120	CV2681461	single nucleotide variant	NM_005468.3(NAALADL1):c.307G>A (p.Glu103Lys)	not specified [RCV004291999]	uncertain significance	11	65058129	65058129	Human		name
401770643	CV2685819	single nucleotide variant	NM_005468.3(NAALADL1):c.722C>T (p.Pro241Leu)	not specified [RCV004294806]	uncertain significance	11	65054620	65054620	Human		name
401770156	CV2719064	single nucleotide variant	NM_005468.3(NAALADL1):c.965G>A (p.Arg322Gln)	not specified [RCV004322640]	uncertain significance	11	65054277	65054277	Human		name
401872281	CV2779459	single nucleotide variant	NM_005468.3(NAALADL1):c.329G>A (p.Ser110Asn)	not specified [RCV004351094]	uncertain significance	11	65058107	65058107	Human		name
401881009	CV2787782	single nucleotide variant	NM_005468.3(NAALADL1):c.821A>G (p.Asn274Ser)	not specified [RCV004356685]	uncertain significance	11	65054521	65054521	Human		name
405281649	CV3224259	single nucleotide variant	NM_005468.3(NAALADL1):c.572C>G (p.Thr191Ser)	not provided [RCV003988641]	not provided	11	65057402	65057402	Human		name
405706163	CV3327494	single nucleotide variant	NM_005468.3(NAALADL1):c.409G>C (p.Val137Leu)	not specified [RCV004461086]	likely benign	11	65057946	65057946	Human		name
405706218	CV3327502	single nucleotide variant	NM_005468.3(NAALADL1):c.508G>A (p.Ala170Thr)	not specified [RCV004461094]	likely benign	11	65057466	65057466	Human		name
405706266	CV3327509	single nucleotide variant	NM_005468.3(NAALADL1):c.688G>A (p.Asp230Asn)	not specified [RCV004461101]	likely benign	11	65054654	65054654	Human		name
405706296	CV3327513	single nucleotide variant	NM_005468.3(NAALADL1):c.719C>A (p.Pro240His)	not specified [RCV004461105]	uncertain significance	11	65054623	65054623	Human		name
405706371	CV3327523	single nucleotide variant	NM_005468.3(NAALADL1):c.805C>T (p.Arg269Cys)	not specified [RCV004461115]	uncertain significance	11	65054537	65054537	Human		name
405706504	CV3327541	single nucleotide variant	NM_005468.3(NAALADL1):c.919T>C (p.Trp307Arg)	not specified [RCV004461133]	uncertain significance	11	65054323	65054323	Human		name
596939582	CV3407909	single nucleotide variant	NM_005468.3(NAALADL1):c.736C>T (p.Arg246Ter)	Retinal dystrophy [RCV004814369]	uncertain significance	11	65054606	65054606	Human	2	name
596942006	CV3408361	single nucleotide variant	NM_005468.3(NAALADL1):c.790G>A (p.Val264Ile)	Retinal dystrophy [RCV004816032]	uncertain significance	11	65054552	65054552	Human	2	name
596945824	CV3409106	single nucleotide variant	NM_005468.3(NAALADL1):c.592C>T (p.Arg198Cys)	Retinal dystrophy [RCV004818740]	uncertain significance	11	65057382	65057382	Human	2	name
407520486	CV3447814	single nucleotide variant	NM_005468.3(NAALADL1):c.521T>G (p.Phe174Cys)	not specified [RCV004652217]	uncertain significance	11	65057453	65057453	Human		name
407487859	CV3447815	single nucleotide variant	NM_005468.3(NAALADL1):c.661G>A (p.Asp221Asn)	not specified [RCV004641125]	uncertain significance	11	65054681	65054681	Human		name
407487764	CV3447818	single nucleotide variant	NM_005468.3(NAALADL1):c.446C>A (p.Pro149His)	not specified [RCV004641126]	uncertain significance	11	65057909	65057909	Human		name
407520497	CV3447821	single nucleotide variant	NM_005468.3(NAALADL1):c.863T>C (p.Phe288Ser)	not specified [RCV004652221]	uncertain significance	11	65054479	65054479	Human		name
597652700	CV3555411	single nucleotide variant	NM_005468.3(NAALADL1):c.464C>T (p.Pro155Leu)	not specified [RCV004833854]	uncertain significance	11	65057891	65057891	Human		name
597652716	CV3555413	single nucleotide variant	NM_005468.3(NAALADL1):c.458A>G (p.Tyr153Cys)	not specified [RCV004833856]	uncertain significance	11	65057897	65057897	Human		name
597652782	CV3555422	single nucleotide variant	NM_005468.3(NAALADL1):c.425G>T (p.Gly142Val)	not specified [RCV004833865]	uncertain significance	11	65057930	65057930	Human		name
597652804	CV3555425	single nucleotide variant	NM_005468.3(NAALADL1):c.964C>T (p.Arg322Trp)	not specified [RCV004833868]	uncertain significance	11	65054278	65054278	Human		name
597652826	CV3555428	single nucleotide variant	NM_005468.3(NAALADL1):c.722C>G (p.Pro241Arg)	not specified [RCV004833871]	uncertain significance	11	65054620	65054620	Human		name
597652834	CV3555429	single nucleotide variant	NM_005468.3(NAALADL1):c.497C>T (p.Ala166Val)	not specified [RCV004833872]	uncertain significance	11	65057477	65057477	Human		name
597652855	CV3555432	single nucleotide variant	NM_005468.3(NAALADL1):c.740G>C (p.Gly247Ala)	not specified [RCV004833875]	uncertain significance	11	65054602	65054602	Human		name
598158997	CV3987056	single nucleotide variant	NM_005468.3(NAALADL1):c.760G>A (p.Gly254Arg)	not specified [RCV005390053]	uncertain significance	11	65054582	65054582	Human		name
598204529	CV3987059	single nucleotide variant	NM_005468.3(NAALADL1):c.593G>A (p.Arg198His)	not specified [RCV005376614]	uncertain significance	11	65057381	65057381	Human		name
598204535	CV3987060	single nucleotide variant	NM_005468.3(NAALADL1):c.746A>T (p.Tyr249Phe)	not specified [RCV005376615]	uncertain significance	11	65054596	65054596	Human		name
598204541	CV3987062	single nucleotide variant	NM_005468.3(NAALADL1):c.613G>A (p.Ala205Thr)	not specified [RCV005376616]	uncertain significance	11	65054729	65054729	Human		name
598204547	CV3987063	single nucleotide variant	NM_005468.3(NAALADL1):c.958G>A (p.Gly320Ser)	not specified [RCV005376617]	uncertain significance	11	65054284	65054284	Human		name
156251131	CV2196429	single nucleotide variant	NM_005468.3(NAALADL1):c.1018C>T (p.Arg340Cys)	not specified [RCV004073731]	uncertain significance	11	65053551	65053551	Human		name
155916991	CV2202135	single nucleotide variant	NM_005468.3(NAALADL1):c.1957C>T (p.Arg653Trp)	not specified [RCV004078086]	uncertain significance	11	65045901	65045901	Human		name
156330112	CV2216566	single nucleotide variant	NM_005468.3(NAALADL1):c.1489G>A (p.Val497Met)	not specified [RCV004097337]	uncertain significance	11	65047666	65047666	Human		name
156331352	CV2218147	single nucleotide variant	NM_005468.3(NAALADL1):c.1262T>C (p.Ile421Thr)	not specified [RCV004086571]	uncertain significance	11	65048322	65048322	Human		name
156336661	CV2228576	single nucleotide variant	NM_005468.3(NAALADL1):c.1150G>A (p.Ala384Thr)	not specified [RCV004092808]	uncertain significance	11	65053266	65053266	Human		name
156275808	CV2290719	single nucleotide variant	NM_005468.3(NAALADL1):c.2075C>T (p.Thr692Ile)	not specified [RCV004149240]	uncertain significance	11	65045419	65045419	Human		name
156101092	CV2291329	single nucleotide variant	NM_005468.3(NAALADL1):c.1324A>T (p.Ile442Phe)	not specified [RCV004162020]	uncertain significance	11	65048176	65048176	Human		name
156082428	CV2301161	single nucleotide variant	NM_005468.3(NAALADL1):c.1613C>T (p.Ala538Val)	not provided [RCV004695520]\|not specified [RCV004160071]	uncertain significance	11	65046513	65046513	Human		name
156294818	CV2302991	single nucleotide variant	NM_005468.3(NAALADL1):c.1051G>A (p.Gly351Ser)	not specified [RCV004156787]	uncertain significance	11	65053518	65053518	Human		name
156054154	CV2320437	single nucleotide variant	NM_005468.3(NAALADL1):c.1769G>C (p.Ser590Thr)	not specified [RCV004172080]	uncertain significance	11	65046275	65046275	Human		name
156061155	CV2320886	single nucleotide variant	NM_005468.3(NAALADL1):c.1135C>A (p.Pro379Thr)	not specified [RCV004172700]	uncertain significance	11	65053281	65053281	Human		name
155980364	CV2336904	single nucleotide variant	NM_005468.3(NAALADL1):c.1663G>T (p.Asp555Tyr)	Retinal dystrophy [RCV004818274]\|not specified [RCV004190520]	uncertain significance	11	65046463	65046463	Human	2	name
156279486	CV2348344	single nucleotide variant	NM_005468.3(NAALADL1):c.2026C>T (p.Arg676Cys)	not specified [RCV004193540]	uncertain significance	11	65045832	65045832	Human		name
156004042	CV2357520	single nucleotide variant	NM_005468.3(NAALADL1):c.1322A>G (p.Tyr441Cys)	not specified [RCV004202798]	uncertain significance	11	65048178	65048178	Human		name
155936563	CV2379853	single nucleotide variant	NM_005468.3(NAALADL1):c.1708C>T (p.Arg570Trp)	not specified [RCV004219961]	uncertain significance	11	65046336	65046336	Human		name
156223537	CV2400046	single nucleotide variant	NM_005468.3(NAALADL1):c.1913G>A (p.Arg638His)	not specified [RCV004246964]	likely benign	11	65046057	65046057	Human		name
329358208	CV2450221	single nucleotide variant	NM_005468.3(NAALADL1):c.1424C>T (p.Ser475Leu)	not specified [RCV004271327]	uncertain significance	11	65047731	65047731	Human		name
329375540	CV2468673	single nucleotide variant	NM_005468.3(NAALADL1):c.1439A>G (p.Asp480Gly)	not specified [RCV004278216]	likely benign	11	65047716	65047716	Human		name
329398526	CV2471588	single nucleotide variant	NM_005468.3(NAALADL1):c.1523G>T (p.Gly508Val)	not specified [RCV004286887]	uncertain significance	11	65047551	65047551	Human		name
401766905	CV2680188	single nucleotide variant	NM_005468.3(NAALADL1):c.2023G>A (p.Glu675Lys)	not specified [RCV004286666]	uncertain significance	11	65045835	65045835	Human		name
401777146	CV2707758	single nucleotide variant	NM_005468.3(NAALADL1):c.2029T>C (p.Tyr677His)	not specified [RCV004307007]	uncertain significance	11	65045829	65045829	Human		name
401784170	CV2721112	single nucleotide variant	NM_005468.3(NAALADL1):c.2068G>A (p.Val690Ile)	not specified [RCV004330137]	uncertain significance	11	65045426	65045426	Human		name
401779863	CV2725744	single nucleotide variant	NM_005468.3(NAALADL1):c.1990C>G (p.Arg664Gly)	not specified [RCV004322435]	uncertain significance	11	65045868	65045868	Human		name
405705760	CV3327440	single nucleotide variant	NM_005468.3(NAALADL1):c.1370A>C (p.Gln457Pro)	not specified [RCV004461032]	uncertain significance	11	65048027	65048027	Human		name
405705822	CV3327449	single nucleotide variant	NM_005468.3(NAALADL1):c.1574T>C (p.Met525Thr)	not specified [RCV004461041]	uncertain significance	11	65047500	65047500	Human		name
405705835	CV3327451	single nucleotide variant	NM_005468.3(NAALADL1):c.1575G>C (p.Met525Ile)	not specified [RCV004461043]	uncertain significance	11	65047499	65047499	Human		name
405705922	CV3327462	single nucleotide variant	NM_005468.3(NAALADL1):c.1703T>C (p.Val568Ala)	not specified [RCV004461054]	uncertain significance	11	65046341	65046341	Human		name
596939071	CV3407619	single nucleotide variant	NM_005468.3(NAALADL1):c.2021A>G (p.Glu674Gly)	Retinal dystrophy [RCV004814079]	uncertain significance	11	65045837	65045837	Human	2	name
596939965	CV3408050	single nucleotide variant	NM_005468.3(NAALADL1):c.1604A>G (p.Lys535Arg)	Retinal dystrophy [RCV004814510]	uncertain significance	11	65046522	65046522	Human	2	name
596941528	CV3408127	single nucleotide variant	NM_005468.3(NAALADL1):c.1193A>C (p.Lys398Thr)	Retinal dystrophy [RCV004815798]	uncertain significance	11	65053223	65053223	Human	2	name
596942003	CV3408360	single nucleotide variant	NM_005468.3(NAALADL1):c.1980G>A (p.Met660Ile)	Retinal dystrophy [RCV004816031]	uncertain significance	11	65045878	65045878	Human	2	name
596942266	CV3408431	single nucleotide variant	NM_005468.3(NAALADL1):c.1732C>T (p.Arg578Trp)	Retinal dystrophy [RCV004816102]	uncertain significance	11	65046312	65046312	Human	2	name
596942427	CV3408488	single nucleotide variant	NM_005468.3(NAALADL1):c.1045G>A (p.Val349Ile)	Retinal dystrophy [RCV004816159]	uncertain significance	11	65053524	65053524	Human	2	name
596944500	CV3408918	single nucleotide variant	NM_005468.3(NAALADL1):c.1087G>A (p.Val363Met)	Optic atrophy [RCV004817571]	uncertain significance	11	65053329	65053329	Human	2	name
407520468	CV3447807	single nucleotide variant	NM_005468.3(NAALADL1):c.1946C>G (p.Pro649Arg)	not specified [RCV004652211]	uncertain significance	11	65045912	65045912	Human		name
407488008	CV3447808	single nucleotide variant	NM_005468.3(NAALADL1):c.1754T>C (p.Leu585Pro)	not specified [RCV004641123]	uncertain significance	11	65046290	65046290	Human		name
407520473	CV3447809	single nucleotide variant	NM_005468.3(NAALADL1):c.1082G>T (p.Arg361Leu)	not specified [RCV004652213]	uncertain significance	11	65053334	65053334	Human		name
407520477	CV3447810	single nucleotide variant	NM_005468.3(NAALADL1):c.1991G>A (p.Arg664Gln)	not specified [RCV004652214]	uncertain significance	11	65045867	65045867	Human		name
407488002	CV3447811	single nucleotide variant	NM_005468.3(NAALADL1):c.1042A>T (p.Asn348Tyr)	not specified [RCV004641124]	uncertain significance	11	65053527	65053527	Human		name
407520480	CV3447812	single nucleotide variant	NM_005468.3(NAALADL1):c.1766T>C (p.Val589Ala)	not specified [RCV004652215]	uncertain significance	11	65046278	65046278	Human		name
407520489	CV3447816	single nucleotide variant	NM_005468.3(NAALADL1):c.1798C>G (p.Leu600Val)	not specified [RCV004652218]	uncertain significance	11	65046246	65046246	Human		name
407520490	CV3447817	single nucleotide variant	NM_005468.3(NAALADL1):c.2188G>A (p.Ala730Thr)	not specified [RCV004652219]	uncertain significance	11	65045306	65045306	Human		name
407487667	CV3447819	single nucleotide variant	NM_005468.3(NAALADL1):c.1679C>T (p.Pro560Leu)	not specified [RCV004641127]	uncertain significance	11	65046447	65046447	Human		name
407520493	CV3447820	single nucleotide variant	NM_005468.3(NAALADL1):c.2095G>A (p.Ala699Thr)	not specified [RCV004652220]	uncertain significance	11	65045399	65045399	Human		name
597652688	CV3555410	single nucleotide variant	NM_005468.3(NAALADL1):c.2060C>T (p.Thr687Met)	not specified [RCV004833853]	uncertain significance	11	65045434	65045434	Human		name
597652706	CV3555412	single nucleotide variant	NM_005468.3(NAALADL1):c.1990C>T (p.Arg664Trp)	not specified [RCV004833855]	uncertain significance	11	65045868	65045868	Human		name
597652723	CV3555414	single nucleotide variant	NM_005468.3(NAALADL1):c.1271C>G (p.Thr424Arg)	not specified [RCV004833857]	uncertain significance	11	65048313	65048313	Human		name
597652731	CV3555415	single nucleotide variant	NM_005468.3(NAALADL1):c.1441C>G (p.Leu481Val)	not specified [RCV004833858]	uncertain significance	11	65047714	65047714	Human		name
597652738	CV3555416	single nucleotide variant	NM_005468.3(NAALADL1):c.1123G>A (p.Gly375Arg)	not specified [RCV004833859]	uncertain significance	11	65053293	65053293	Human		name
597652745	CV3555417	single nucleotide variant	NM_005468.3(NAALADL1):c.1709G>A (p.Arg570Gln)	not specified [RCV004833860]	likely benign	11	65046335	65046335	Human		name
597652768	CV3555420	single nucleotide variant	NM_005468.3(NAALADL1):c.2195C>G (p.Ala732Gly)	not specified [RCV004833863]	uncertain significance	11	65045299	65045299	Human		name
597652775	CV3555421	single nucleotide variant	NM_005468.3(NAALADL1):c.1214G>A (p.Arg405His)	not specified [RCV004833864]	uncertain significance	11	65048370	65048370	Human		name
597652789	CV3555423	single nucleotide variant	NM_005468.3(NAALADL1):c.2210T>C (p.Val737Ala)	not specified [RCV004833866]	uncertain significance	11	65045284	65045284	Human		name
597652796	CV3555424	single nucleotide variant	NM_005468.3(NAALADL1):c.1625C>A (p.Pro542His)	not specified [RCV004833867]	uncertain significance	11	65046501	65046501	Human		name
597652810	CV3555426	single nucleotide variant	NM_005468.3(NAALADL1):c.1265G>C (p.Gly422Ala)	not specified [RCV004833869]	uncertain significance	11	65048319	65048319	Human		name
597652819	CV3555427	single nucleotide variant	NM_005468.3(NAALADL1):c.1439A>C (p.Asp480Ala)	not specified [RCV004833870]	uncertain significance	11	65047716	65047716	Human		name
597652842	CV3555430	single nucleotide variant	NM_005468.3(NAALADL1):c.1933G>A (p.Gly645Ser)	not specified [RCV004833873]	uncertain significance	11	65046037	65046037	Human		name
597652849	CV3555431	single nucleotide variant	NM_005468.3(NAALADL1):c.1541C>T (p.Ala514Val)	not specified [RCV004833874]	uncertain significance	11	65047533	65047533	Human		name
598159002	CV3987061	single nucleotide variant	NM_005468.3(NAALADL1):c.1117G>C (p.Val373Leu)	not specified [RCV005390054]	uncertain significance	11	65053299	65053299	Human		name
598204553	CV3987064	single nucleotide variant	NM_005468.3(NAALADL1):c.1689C>G (p.Ser563Arg)	not specified [RCV005376618]	uncertain significance	11	65046355	65046355	Human		name
596944887	CV3409045	indel	NM_005468.3(NAALADL1):c.2204_2207delinsCCCCAGGG (p.Arg735fs)	Retinal dystrophy [RCV004817698]	uncertain significance	11	65045287	65045290	Human		name

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