Lins1 Variant Search Result - Rat Genome Database

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196 records found for search term Lins1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
155802701	CV1857695	single nucleotide variant	NM_001040616.3(LINS1):c.-5T>A	Inborn genetic diseases [RCV002461553]	uncertain significance	15	100580847	100580847	Human	1	name
150462891	CV1234978	single nucleotide variant	NM_001040616.3(LINS1):c.*85T>C	not provided [RCV001649560]	benign	15	100569153	100569153	Human		name
150482324	CV1247436	single nucleotide variant	NM_001040616.3(LINS1):c.*51G>A	not provided [RCV001673261]	benign	15	100569187	100569187	Human		name
150332460	CV1172665	single nucleotide variant	NM_001040616.3(LINS1):c.*200A>G	not provided [RCV001539046]	benign	15	100569038	100569038	Human		name
150502629	CV1212280	single nucleotide variant	NM_001040616.3(LINS1):c.*317A>G	not provided [RCV001595154]	benign	15	100568921	100568921	Human		name
150495670	CV1225133	single nucleotide variant	NM_001040616.3(LINS1):c.*221C>A	not provided [RCV001619611]	benign	15	100569017	100569017	Human		name
150475697	CV1239775	duplication	NM_001040616.3(LINS1):c.*115dup	not provided [RCV001651952]	benign	15	100569122	100569123	Human		name
150502795	CV1254622	single nucleotide variant	NM_001040616.3(LINS1):c.*189T>C	not provided [RCV001677324]	benign	15	100569049	100569049	Human		name
150460844	CV1270573	single nucleotide variant	NM_001040616.3(LINS1):c.*167A>G	not provided [RCV001693563]	benign	15	100569071	100569071	Human		name
150478419	CV1271055	single nucleotide variant	NM_001040616.3(LINS1):c.*216T>C	not provided [RCV001696491]	benign	15	100569022	100569022	Human		name
155802662	CV1857653	single nucleotide variant	NM_001040616.3(LINS1):c.399+4A>G	Inborn genetic diseases [RCV002461510]	uncertain significance	15	100580440	100580440	Human	1	name
401964171	CV2843533	single nucleotide variant	NM_001040616.3(LINS1):c.631+1G>A	Intellectual disability, autosomal recessive 27 [RCV003479876]	likely pathogenic	15	100574986	100574986	Human	1	name
39456907	CV966284	single nucleotide variant	NM_001040616.3(LINS1):c.490-1G>C	Intellectual disability, autosomal recessive 27 [RCV004799367]	likely pathogenic	15	100575129	100575129	Human	1	name
150477557	CV1272063	single nucleotide variant	NM_001040616.3(LINS1):c.631+33A>G	not provided [RCV001696348]	benign	15	100574954	100574954	Human		name
10403779	CV208150	single nucleotide variant	NM_001040616.3(LINS1):c.1394+4A>G	Inborn genetic diseases [RCV002460973]\|not specified [RCV000193381]	uncertain significance	15	100571890	100571890	Human	1	name
11060078	CV226943	single nucleotide variant	NM_001040616.3(LINS1):c.1394+1G>T	Inborn genetic diseases [RCV000210706]	pathogenic\|likely pathogenic	15	100571893	100571893	Human	1	name
243058728	CV2409839	single nucleotide variant	NM_001040616.3(LINS1):c.1222+2T>C	Intellectual disability, autosomal recessive 27 [RCV003147013]	likely pathogenic	15	100573649	100573649	Human	1	name
405291065	CV3208717	single nucleotide variant	NM_001040616.3(LINS1):c.1394+9A>T	LINS1-related disorder [RCV003927304]	likely benign	15	100571885	100571885	Human		name , trait , alternate_id
150487714	CV1225953	single nucleotide variant	NM_001040616.3(LINS1):c.1395-34A>G	not provided [RCV001618114]	benign	15	100570151	100570151	Human		name
150517388	CV1226838	single nucleotide variant	NM_001040616.3(LINS1):c.1223-72A>G	not provided [RCV001639932]	benign	15	100572137	100572137	Human		name
150449982	CV1254052	single nucleotide variant	NM_001040616.3(LINS1):c.490-115G>T	not provided [RCV001667689]	benign	15	100575243	100575243	Human		name
150442356	CV1266216	single nucleotide variant	NM_001040616.3(LINS1):c.632-194A>G	not provided [RCV001690652]	benign	15	100574435	100574435	Human		name
150475433	CV1279055	single nucleotide variant	NM_001040616.3(LINS1):c.490-249C>G	not provided [RCV001713840]	benign	15	100575377	100575377	Human		name
401904535	CV2814529	deletion	NM_001040616.3(LINS1):c.1222+21del	not provided [RCV003395063]	likely benign	15	100573630	100573630	Human		name
150513830	CV1227922	single nucleotide variant	NM_001040616.3(LINS1):c.1222+108G>A	not provided [RCV001638200]	benign	15	100573543	100573543	Human		name
150450986	CV1232742	single nucleotide variant	NM_001040616.3(LINS1):c.1394+167T>C	not provided [RCV001647817]	benign	15	100571727	100571727	Human		name
150473621	CV1234311	duplication	NM_001040616.3(LINS1):c.1222+142dup	not provided [RCV001651630]	benign	15	100573495	100573496	Human		name
150443837	CV1249332	single nucleotide variant	NM_001040616.3(LINS1):c.1395-321G>A	not provided [RCV001666764]	benign	15	100570438	100570438	Human		name
150489724	CV1250908	deletion	NM_001040616.3(LINS1):c.1222+336del	not provided [RCV001674575]	benign	15	100573315	100573315	Human		name
150472052	CV1270194	single nucleotide variant	NM_001040616.3(LINS1):c.1395-243G>A	not provided [RCV001695482]	benign	15	100570360	100570360	Human		name
150514134	CV1228070	deletion	NM_001040616.3(LINS1):c.112_115del	not provided [RCV001638348]	benign	15	100569123	100569126	Human		name
150447301	CV1270293	duplication	NM_001040616.3(LINS1):c.114_115dup	not provided [RCV001691428]	benign	15	100569122	100569123	Human		name
8591069	CV125791	deletion	NM_001040616.3(LINS1):c.1219_1222+1del	Intellectual disability [RCV004798777]\|Intellectual disability, autosomal recessive 27 [RCV000106306]	pathogenic	15	100573650	100573654	Human	3	name
150504546	CV1211415	deletion	NM_001040616.3(LINS1):c.632-38_632-37del	not provided [RCV001595580]	benign	15	100574278	100574279	Human		name
155802558	CV1857556	single nucleotide variant	NM_001040616.3(LINS1):c.228G>A (p.Leu76=)	Inborn genetic diseases [RCV002461413]	likely benign	15	100580615	100580615	Human	1	name
15102218	CV703058	variation	NM_001040616.3(LINS1):c.1216= (p.Val406=)	not provided [RCV000959249]	benign	15	100573657	100573657	Human		name
150443261	CV1266370	deletion	NM_001040616.3(LINS1):c.1395-52_1395-51del	not provided [RCV001690806]	benign	15	100570168	100570169	Human		name
150555877	CV1305372	duplication	NM_001040616.3(LINS1):c.154dup (p.Thr52fs)	not provided [RCV001773305]	uncertain significance	15	100580688	100580689	Human		name
155802541	CV1857542	single nucleotide variant	NM_001040616.3(LINS1):c.651G>C (p.Leu217=)	Inborn genetic diseases [RCV002461399]	likely benign	15	100574222	100574222	Human	1	name
155802565	CV1857562	single nucleotide variant	NM_001040616.3(LINS1):c.975G>A (p.Pro325=)	Inborn genetic diseases [RCV002461419]	likely benign	15	100573898	100573898	Human	1	name
10403880	CV208153	single nucleotide variant	NM_001040616.3(LINS1):c.864C>T (p.Thr288=)	Inborn genetic diseases [RCV002460976]\|not provided [RCV000931381]\|not specified [RCV000193625]	benign\|likely benign\|uncertain significance	15	100574009	100574009	Human	1	name
405266797	CV3186707	single nucleotide variant	NM_001040616.3(LINS1):c.837A>G (p.Lys279=)	not provided [RCV003886788]	likely benign	15	100574036	100574036	Human		name
408370015	CV3502978	single nucleotide variant	NM_001040616.3(LINS1):c.79G>A (p.Asp27Asn)	not provided [RCV004724099]	uncertain significance	15	100580764	100580764	Human		name
39458160	CV429613	single nucleotide variant	NM_001040616.3(LINS1):c.975G>T (p.Pro325=)	not specified [RCV001257275]	likely benign	15	100573898	100573898	Human		name
13214136	CV429615	single nucleotide variant	NM_001040616.3(LINS1):c.747G>C (p.Leu249=)	not specified [RCV000500889]	likely benign	15	100574126	100574126	Human		name
13531287	CV512112	single nucleotide variant	NM_001040616.3(LINS1):c.52G>A (p.Gly18Arg)	Inborn genetic diseases [RCV000623204]\|LINS1-related disorder [RCV003965305]\|not provided [RCV000968316]	likely benign\|uncertain significance	15	100580791	100580791	Human	2	name , trait , alternate_id
13829805	CV579980	single nucleotide variant	NM_001040616.3(LINS1):c.807T>C (p.His269=)	Inborn genetic diseases [RCV002462097]	likely benign	15	100574066	100574066	Human	1	name
13828269	CV579990	single nucleotide variant	NM_001040616.3(LINS1):c.660C>T (p.Phe220=)	Inborn genetic diseases [RCV002462066]\|not provided [RCV001683631]	benign	15	100574213	100574213	Human	1	name
13829977	CV579991	single nucleotide variant	NM_001040616.3(LINS1):c.312G>A (p.Leu104=)	Inborn genetic diseases [RCV002462101]\|not provided [RCV000911883]	likely benign	15	100580531	100580531	Human	1	name
13828264	CV579999	single nucleotide variant	NM_001040616.3(LINS1):c.85A>G (p.Ile29Val)	Inborn genetic diseases [RCV002462065]\|not provided [RCV001637114]	benign	15	100580758	100580758	Human	1	name
13829996	CV580217	single nucleotide variant	NM_001040616.3(LINS1):c.993G>A (p.Ala331=)	Inborn genetic diseases [RCV002462103]	likely benign	15	100573880	100573880	Human	1	name
13829098	CV580226	single nucleotide variant	NM_001040616.3(LINS1):c.615A>G (p.Ser205=)	Inborn genetic diseases [RCV002462084]\|not provided [RCV000885957]	benign\|likely benign	15	100575003	100575003	Human	1	name
15154203	CV754281	single nucleotide variant	NM_001040616.3(LINS1):c.987T>C (p.His329=)	Inborn genetic diseases [RCV002462225]\|not provided [RCV000924212]	likely benign	15	100573886	100573886	Human	1	name
15194428	CV754282	single nucleotide variant	NM_001040616.3(LINS1):c.663C>T (p.Asp221=)	not provided [RCV000911123]	likely benign	15	100574210	100574210	Human		name
15178785	CV770029	single nucleotide variant	NM_001040616.3(LINS1):c.840A>G (p.Pro280=)	not provided [RCV000929480]	likely benign	15	100574033	100574033	Human		name
126731288	CV1021280	single nucleotide variant	NM_001040616.3(LINS1):c.134C>T (p.Thr45Ile)	Intellectual disability, autosomal recessive 27 [RCV001333676]\|not specified [RCV002282521]	uncertain significance	15	100580709	100580709	Human	1	name
155803984	CV1856881	single nucleotide variant	NM_001040616.3(LINS1):c.2163T>C (p.Asp721=)	Inborn genetic diseases [RCV002463231]	likely benign	15	100569349	100569349	Human	1	name
155803986	CV1856884	single nucleotide variant	NM_001040616.3(LINS1):c.2121A>T (p.Gly707=)	Inborn genetic diseases [RCV002463234]	likely benign	15	100569391	100569391	Human	1	name
155803993	CV1856894	single nucleotide variant	NM_001040616.3(LINS1):c.2178G>A (p.Leu726=)	Inborn genetic diseases [RCV002463244]	likely benign	15	100569334	100569334	Human	1	name
155803995	CV1856898	single nucleotide variant	NM_001040616.3(LINS1):c.1668T>C (p.Ile556=)	Inborn genetic diseases [RCV002463248]	likely benign	15	100569844	100569844	Human	1	name
155804007	CV1856911	single nucleotide variant	NM_001040616.3(LINS1):c.172A>G (p.Arg58Gly)	Inborn genetic diseases [RCV002463261]	uncertain significance	15	100580671	100580671	Human	1	name
155804034	CV1856960	single nucleotide variant	NM_001040616.3(LINS1):c.205A>G (p.Ile69Val)	Inborn genetic diseases [RCV002463310]	likely benign	15	100580638	100580638	Human	1	name
155802679	CV1857675	single nucleotide variant	NM_001040616.3(LINS1):c.194G>A (p.Gly65Asp)	Inborn genetic diseases [RCV002461533]	uncertain significance	15	100580649	100580649	Human	1	name
155802691	CV1857686	single nucleotide variant	NM_001040616.3(LINS1):c.1296C>T (p.His432=)	Inborn genetic diseases [RCV002461544]	likely benign	15	100571992	100571992	Human	1	name
10404114	CV208149	single nucleotide variant	NM_001040616.3(LINS1):c.1632C>T (p.Asn544=)	not provided [RCV003992228]\|not specified [RCV000194228]	likely benign\|uncertain significance	15	100569880	100569880	Human		name
10404154	CV208152	single nucleotide variant	NM_001040616.3(LINS1):c.1194A>G (p.Gln398=)	Inborn genetic diseases [RCV002460971]\|not provided [RCV000963488]\|not specified [RCV000194345]	benign\|likely benign\|uncertain significance	15	100573679	100573679	Human	1	name
156222171	CV2232668	single nucleotide variant	NM_001040616.3(LINS1):c.271C>T (p.Leu91Phe)	Inborn genetic diseases [RCV002767107]	uncertain significance	15	100580572	100580572	Human	1	name
401725690	CV2737241	single nucleotide variant	NM_001040616.3(LINS1):c.281C>T (p.Thr94Ile)	not provided [RCV003314180]	uncertain significance	15	100580562	100580562	Human		name
401870353	CV2749350	single nucleotide variant	NM_001040616.3(LINS1):c.274C>T (p.Gln92Ter)	not provided [RCV003332478]	pathogenic\|likely pathogenic	15	100580569	100580569	Human		name
401904534	CV2814528	single nucleotide variant	NM_001040616.3(LINS1):c.1659C>T (p.Asp553=)	not provided [RCV003395062]	likely benign	15	100569853	100569853	Human		name
405266495	CV3186647	single nucleotide variant	NM_001040616.3(LINS1):c.1368A>G (p.Ser456=)	not provided [RCV003886728]	likely benign	15	100571920	100571920	Human		name
405277992	CV3205286	single nucleotide variant	NM_001040616.3(LINS1):c.1488G>A (p.Leu496=)	LINS1-related disorder [RCV003954325]	likely benign	15	100570024	100570024	Human		name , trait , alternate_id
616939797	CV4014498	single nucleotide variant	NM_001040616.3(LINS1):c.1995G>C (p.Gly665=)	not provided [RCV005413992]	likely benign	15	100569517	100569517	Human		name
617151094	CV4021876	single nucleotide variant	NM_001040616.3(LINS1):c.1425G>A (p.Gln475=)	not provided [RCV005426837]	likely benign	15	100570087	100570087	Human		name
13214035	CV429609	single nucleotide variant	NM_001040616.3(LINS1):c.1908C>T (p.Asp636=)	not specified [RCV000500629]	likely benign	15	100569604	100569604	Human		name
13215339	CV429610	single nucleotide variant	NM_001040616.3(LINS1):c.1887C>T (p.Tyr629=)	Inborn genetic diseases [RCV002461257]\|not provided [RCV000974026]\|not specified [RCV000502384]	benign\|likely benign	15	100569625	100569625	Human	1	name
13216231	CV429611	single nucleotide variant	NM_001040616.3(LINS1):c.1851G>T (p.Leu617=)	Inborn genetic diseases [RCV002461258]\|not provided [RCV000761923]\|not specified [RCV000503513]	likely benign	15	100569661	100569661	Human	1	name
13213526	CV429612	single nucleotide variant	NM_001040616.3(LINS1):c.1479T>C (p.Cys493=)	Inborn genetic diseases [RCV002461259]\|not provided [RCV000584946]\|not specified [RCV000500117]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	100570033	100570033	Human	1	name
13462780	CV438689	deletion	NM_001040616.3(LINS1):c.431del (p.Leu144fs)	Intellectual disability, autosomal recessive 27 [RCV001814175]\|not provided [RCV000514816]	likely pathogenic\|conflicting interpretations of pathogenicity	15	100580321	100580321	Human	1	name
13829761	CV579921	single nucleotide variant	NM_001040616.3(LINS1):c.1285C>T (p.Leu429=)	Inborn genetic diseases [RCV002462096]\|not provided [RCV000884881]\|not specified [RCV001816777]	benign\|likely benign	15	100572003	100572003	Human	1	name
13828262	CV579925	single nucleotide variant	NM_001040616.3(LINS1):c.1128T>C (p.Ser376=)	Inborn genetic diseases [RCV002462064]\|not provided [RCV001712779]	benign	15	100573745	100573745	Human	1	name
13828270	CV579973	single nucleotide variant	NM_001040616.3(LINS1):c.1452A>T (p.Thr484=)	Inborn genetic diseases [RCV002462067]\|not provided [RCV001683632]	benign	15	100570060	100570060	Human	1	name
13828365	CV579975	single nucleotide variant	NM_001040616.3(LINS1):c.1302G>A (p.Pro434=)	Inborn genetic diseases [RCV002462076]\|LINS1-related disorder [RCV003980333]\|not provided [RCV000959248]	benign\|likely benign	15	100571986	100571986	Human	2	name , trait , alternate_id
13829304	CV579978	single nucleotide variant	NM_001040616.3(LINS1):c.1320G>A (p.Arg440=)	Inborn genetic diseases [RCV002462087]	likely benign	15	100571968	100571968	Human	1	name
13829053	CV579995	single nucleotide variant	NM_001040616.3(LINS1):c.267G>A (p.Met89Ile)	Inborn genetic diseases [RCV002462082]\|not specified [RCV004768608]	likely benign\|uncertain significance	15	100580576	100580576	Human	1	name
13828305	CV580199	single nucleotide variant	NM_001040616.3(LINS1):c.2034A>G (p.Pro678=)	Inborn genetic diseases [RCV002462073]\|not provided [RCV004704194]	likely benign	15	100569478	100569478	Human	1	name
13828271	CV580207	single nucleotide variant	NM_001040616.3(LINS1):c.1899C>T (p.Asp633=)	Inborn genetic diseases [RCV002462068]\|not provided [RCV001725197]	benign	15	100569613	100569613	Human	1	name
13828273	CV580213	single nucleotide variant	NM_001040616.3(LINS1):c.1824G>T (p.Gly608=)	Inborn genetic diseases [RCV002462070]\|not provided [RCV001613437]	benign	15	100569688	100569688	Human	1	name
13838002	CV589301	deletion	NM_001040616.3(LINS1):c.304del (p.Arg102fs)	Intellectual disability, autosomal recessive 27 [RCV002470966]\|not provided [RCV000734583]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	15	100580539	100580539	Human	1	name
15186664	CV703057	single nucleotide variant	NM_001040616.3(LINS1):c.1314G>A (p.Leu438=)	not provided [RCV000953352]	likely benign	15	100571974	100571974	Human		name
15110612	CV754280	single nucleotide variant	NM_001040616.3(LINS1):c.2097A>G (p.Pro699=)	not provided [RCV000916567]	likely benign	15	100569415	100569415	Human		name
25319847	CV805807	deletion	NM_001040616.3(LINS1):c.809del (p.Phe270fs)	not provided [RCV001009079]	pathogenic	15	100574064	100574064	Human		name
243052642	CV970504	deletion	NM_001040616.3(LINS1):c.597del (p.Glu200fs)	Intellectual disability, autosomal recessive 27 [RCV003153966]	likely pathogenic	15	100575021	100575021	Human	1	name
126734807	CV1021277	single nucleotide variant	NM_001040616.3(LINS1):c.997G>A (p.Asp333Asn)	Intellectual disability, autosomal recessive 27 [RCV001334704]	uncertain significance	15	100573876	100573876	Human	1	name
127261768	CV1087377	single nucleotide variant	NM_001040616.3(LINS1):c.725C>G (p.Thr242Ser)	Intellectual disability, autosomal recessive 27 [RCV001420654]	uncertain significance	15	100574148	100574148	Human	1	name
155264748	CV1698929	single nucleotide variant	NM_001040616.3(LINS1):c.361A>C (p.Lys121Gln)	Intellectual disability, autosomal recessive 27 [RCV002282782]	likely benign	15	100580482	100580482	Human	1	name
155803990	CV1856889	single nucleotide variant	NM_001040616.3(LINS1):c.525G>T (p.Gln175His)	Inborn genetic diseases [RCV002463239]	uncertain significance	15	100575093	100575093	Human	1	name
155803997	CV1856900	single nucleotide variant	NM_001040616.3(LINS1):c.607A>G (p.Lys203Glu)	Inborn genetic diseases [RCV002463250]	uncertain significance	15	100575011	100575011	Human	1	name
155804023	CV1856942	single nucleotide variant	NM_001040616.3(LINS1):c.392C>G (p.Ser131Cys)	Inborn genetic diseases [RCV002463292]	uncertain significance	15	100580451	100580451	Human	1	name
155802550	CV1857550	single nucleotide variant	NM_001040616.3(LINS1):c.781G>A (p.Ala261Thr)	Inborn genetic diseases [RCV002461407]	uncertain significance	15	100574092	100574092	Human	1	name
10403392	CV208154	single nucleotide variant	NM_001040616.3(LINS1):c.718C>T (p.Arg240Trp)	Inborn genetic diseases [RCV002460975]\|not provided [RCV000880506]\|not specified [RCV000192421]	benign\|likely benign\|uncertain significance	15	100574155	100574155	Human	1	name
10404243	CV208155	single nucleotide variant	NM_001040616.3(LINS1):c.569G>T (p.Cys190Phe)	not specified [RCV000194593]	uncertain significance	15	100575049	100575049	Human		name
156130022	CV2238584	single nucleotide variant	NM_001040616.3(LINS1):c.917G>T (p.Cys306Phe)	Inborn genetic diseases [RCV002762874]	uncertain significance	15	100573956	100573956	Human	1	name
156249311	CV2286594	single nucleotide variant	NM_001040616.3(LINS1):c.550A>C (p.Ser184Arg)	Inborn genetic diseases [RCV002854736]	uncertain significance	15	100575068	100575068	Human	1	name
156101829	CV2386810	single nucleotide variant	NM_001040616.3(LINS1):c.632A>G (p.Glu211Gly)	Inborn genetic diseases [RCV002739154]	uncertain significance	15	100574241	100574241	Human	1	name
243058761	CV2413089	single nucleotide variant	NM_001040616.3(LINS1):c.562A>G (p.Ile188Val)	Intellectual disability, autosomal recessive 27 [RCV003134069]	uncertain significance	15	100575056	100575056	Human	1	name
243054152	CV2413090	single nucleotide variant	NM_001040616.3(LINS1):c.332A>C (p.His111Pro)	Intellectual disability, autosomal recessive 27 [RCV003131482]	uncertain significance	15	100580511	100580511	Human	1	name
401914124	CV2830565	duplication	NM_001040616.3(LINS1):c.1873dup (p.Ser625fs)	not provided [RCV003442303]	likely pathogenic\|conflicting interpretations of pathogenicity	15	100569638	100569639	Human		name
407459718	CV3496869	deletion	NM_001040616.3(LINS1):c.1116del (p.Glu372fs)	Autism [RCV004698684]	pathogenic	15	100573757	100573757	Human	2	name
596924934	CV3536826	duplication	NM_001040616.3(LINS1):c.1665dup (p.Ile556fs)	Intellectual disability, autosomal recessive 27 [RCV004785820]	uncertain significance	15	100569846	100569847	Human	1	name
12741556	CV361846	single nucleotide variant	NM_001040616.3(LINS1):c.937G>A (p.Glu313Lys)	Intellectual disability, autosomal recessive 27 [RCV000415720]	likely pathogenic	15	100573936	100573936	Human	1	name
12905847	CV413414	single nucleotide variant	NM_001040616.3(LINS1):c.554A>G (p.Asn185Ser)	Inborn genetic diseases [RCV002461248]\|not provided [RCV000488075]	likely benign\|uncertain significance	15	100575064	100575064	Human	1	name
13216843	CV429614	single nucleotide variant	NM_001040616.3(LINS1):c.848T>A (p.Met283Lys)	not specified [RCV000504266]	uncertain significance	15	100574025	100574025	Human		name
13516533	CV491130	duplication	NM_001040616.3(LINS1):c.1780dup (p.Ser594fs)	not provided [RCV000595642]	uncertain significance	15	100569731	100569732	Human		name
13830056	CV579930	single nucleotide variant	NM_001040616.3(LINS1):c.842C>G (p.Ser281Cys)	Inborn genetic diseases [RCV002462105]\|not provided [RCV003330920]	uncertain significance	15	100574031	100574031	Human	1	name
13828355	CV579982	single nucleotide variant	NM_001040616.3(LINS1):c.661G>A (p.Asp221Asn)	Inborn genetic diseases [RCV002462074]\|Intellectual disability, autosomal recessive 27 [RCV001333682]	uncertain significance	15	100574212	100574212	Human	2	name
13830014	CV579986	single nucleotide variant	NM_001040616.3(LINS1):c.778A>G (p.Ile260Val)	Inborn genetic diseases [RCV002462104]	uncertain significance	15	100574095	100574095	Human	1	name
13828997	CV580224	single nucleotide variant	NM_001040616.3(LINS1):c.992C>T (p.Ala331Val)	Inborn genetic diseases [RCV002462081]\|not provided [RCV000962382]	benign	15	100573881	100573881	Human	1	name
15199128	CV770030	single nucleotide variant	NM_001040616.3(LINS1):c.418T>A (p.Ser140Thr)	Inborn genetic diseases [RCV002462230]\|not provided [RCV000935012]	benign\|likely benign\|uncertain significance	15	100580334	100580334	Human	1	name
21068811	CV788885	single nucleotide variant	NM_001040616.3(LINS1):c.717C>A (p.Cys239Ter)	Intellectual disability, autosomal recessive 27 [RCV000984987]	pathogenic\|likely pathogenic	15	100574156	100574156	Human	1	name
38596969	CV801896	single nucleotide variant	NM_001040616.3(LINS1):c.839C>T (p.Pro280Leu)	Microcephaly [RCV001252715]	uncertain significance	15	100574034	100574034	Human	2	name
40887101	CV973932	duplication	NM_001040616.3(LINS1):c.2020dup (p.Ser674fs)	Inborn genetic diseases [RCV001266525]\|not provided [RCV004719123]	likely pathogenic	15	100569491	100569492	Human	1	name
126725639	CV1017868	single nucleotide variant	NM_001040616.3(LINS1):c.2032C>T (p.Pro678Ser)	Intellectual disability, autosomal recessive 27 [RCV001331516]	uncertain significance	15	100569480	100569480	Human	1	name
126743325	CV1017870	single nucleotide variant	NM_001040616.3(LINS1):c.1481T>C (p.Ile494Thr)	Inborn genetic diseases [RCV002462938]\|Intellectual disability, autosomal recessive 27 [RCV001330175]\|not provided [RCV004692529]	uncertain significance	15	100570031	100570031	Human	2	name
126731305	CV1021273	single nucleotide variant	NM_001040616.3(LINS1):c.2004G>C (p.Arg668Ser)	Intellectual disability, autosomal recessive 27 [RCV001333680]	uncertain significance	15	100569508	100569508	Human	1	name
126731296	CV1021274	single nucleotide variant	NM_001040616.3(LINS1):c.1826C>G (p.Ala609Gly)	Intellectual disability, autosomal recessive 27 [RCV001333678]	uncertain significance	15	100569686	100569686	Human	1	name
126731292	CV1021275	single nucleotide variant	NM_001040616.3(LINS1):c.1487T>C (p.Leu496Ser)	Intellectual disability, autosomal recessive 27 [RCV001333677]	uncertain significance	15	100570025	100570025	Human	1	name
126731283	CV1021276	single nucleotide variant	NM_001040616.3(LINS1):c.1013C>T (p.Ala338Val)	Inborn genetic diseases [RCV002462941]\|Intellectual disability, autosomal recessive 27 [RCV001333675]	uncertain significance	15	100573860	100573860	Human	2	name
150494899	CV1204911	single nucleotide variant	NM_001040616.3(LINS1):c.1276C>T (p.Gln426Ter)	not provided [RCV001593403]	likely pathogenic	15	100572012	100572012	Human		name
151662403	CV1333089	single nucleotide variant	NM_001040616.3(LINS1):c.1909G>A (p.Val637Met)	Intellectual disability, autosomal recessive 27 [RCV001837322]	uncertain significance	15	100569603	100569603	Human	1	name
8659945	CV134929	single nucleotide variant	NM_001040616.3(LINS1):c.1124C>T (p.Thr375Ile)	Inborn genetic diseases [RCV002460922]\|LINS1-related disorder [RCV003905119]\|not provided [RCV000904792]\|not specified [RCV000117490]	likely benign\|uncertain significance	15	100573749	100573749	Human	2	name , trait , alternate_id
8659946	CV134930	single nucleotide variant	NM_001040616.3(LINS1):c.2119G>A (p.Gly707Arg)	Inborn genetic diseases [RCV002460923]\|LINS1-related disorder [RCV003905120]\|not provided [RCV000904791]\|not specified [RCV000117491]	benign\|likely benign\|uncertain significance	15	100569393	100569393	Human	2	name , trait , alternate_id
8657598	CV134931	single nucleotide variant	NM_001040616.3(LINS1):c.2236A>G (p.Ile746Val)	not provided [RCV000117492]	uncertain significance	15	100569276	100569276	Human		name
152977786	CV1671145	single nucleotide variant	NM_001040616.3(LINS1):c.1432G>T (p.Glu478Ter)	Intellectual disability, autosomal recessive 27 [RCV002226819]	likely pathogenic	15	100570080	100570080	Human	1	name
155265369	CV1704756	single nucleotide variant	NM_001040616.3(LINS1):c.1529T>C (p.Leu510Pro)	Intellectual disability, autosomal recessive 27 [RCV002284982]	pathogenic\|uncertain significance	15	100569983	100569983	Human	1	name
155803985	CV1856883	single nucleotide variant	NM_001040616.3(LINS1):c.1568A>G (p.Tyr523Cys)	Inborn genetic diseases [RCV002463233]	uncertain significance	15	100569944	100569944	Human	1	name
155803991	CV1856890	single nucleotide variant	NM_001040616.3(LINS1):c.2080G>T (p.Asp694Tyr)	Inborn genetic diseases [RCV002463240]	uncertain significance	15	100569432	100569432	Human	1	name
155803994	CV1856895	single nucleotide variant	NM_001040616.3(LINS1):c.1534T>A (p.Phe512Ile)	Inborn genetic diseases [RCV002463245]	uncertain significance	15	100569978	100569978	Human	1	name
155803998	CV1856901	single nucleotide variant	NM_001040616.3(LINS1):c.1007C>T (p.Ala336Val)	Inborn genetic diseases [RCV002463251]	uncertain significance	15	100573866	100573866	Human	1	name
155804008	CV1856912	single nucleotide variant	NM_001040616.3(LINS1):c.1660A>G (p.Ile554Val)	Inborn genetic diseases [RCV002463262]	uncertain significance	15	100569852	100569852	Human	1	name
155802110	CV1857191	single nucleotide variant	NM_001040616.3(LINS1):c.2173C>T (p.Arg725Cys)	Inborn genetic diseases [RCV002460548]	uncertain significance	15	100569339	100569339	Human	1	name
155802367	CV1857454	single nucleotide variant	NM_001040616.3(LINS1):c.2008A>G (p.Lys670Glu)	Inborn genetic diseases [RCV002460811]	uncertain significance	15	100569504	100569504	Human	1	name
155802618	CV1857602	single nucleotide variant	NM_001040616.3(LINS1):c.1007C>G (p.Ala336Gly)	Inborn genetic diseases [RCV002461459]	uncertain significance	15	100573866	100573866	Human	1	name
155802626	CV1857608	single nucleotide variant	NM_001040616.3(LINS1):c.1133A>G (p.Asp378Gly)	Inborn genetic diseases [RCV002461465]	uncertain significance	15	100573740	100573740	Human	1	name
155802664	CV1857656	single nucleotide variant	NM_001040616.3(LINS1):c.2183A>G (p.Lys728Arg)	Inborn genetic diseases [RCV002461513]	uncertain significance	15	100569329	100569329	Human	1	name
155802668	CV1857659	single nucleotide variant	NM_001040616.3(LINS1):c.1505T>C (p.Ile502Thr)	Inborn genetic diseases [RCV002461517]	uncertain significance	15	100570007	100570007	Human	1	name
155802687	CV1857682	single nucleotide variant	NM_001040616.3(LINS1):c.1173A>C (p.Lys391Asn)	Inborn genetic diseases [RCV002461540]	uncertain significance	15	100573700	100573700	Human	1	name
155802704	CV1857701	single nucleotide variant	NM_001040616.3(LINS1):c.1353G>C (p.Glu451Asp)	Inborn genetic diseases [RCV002461559]	uncertain significance	15	100571935	100571935	Human	1	name
155799708	CV1862597	single nucleotide variant	NM_001040616.3(LINS1):c.1815G>T (p.Met605Ile)	Intellectual disability, autosomal recessive 27 [RCV002472004]	uncertain significance	15	100569697	100569697	Human	1	name
10406696	CV208147	single nucleotide variant	NM_001040616.3(LINS1):c.1912G>A (p.Glu638Lys)	not specified [RCV000193742]	uncertain significance	15	100569600	100569600	Human		name
10403404	CV208148	single nucleotide variant	NM_001040616.3(LINS1):c.1813A>G (p.Met605Val)	Inborn genetic diseases [RCV002460974]\|not provided [RCV000423169]\|not specified [RCV000192437]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	100569699	100569699	Human	1	name
10403447	CV208151	single nucleotide variant	NM_001040616.3(LINS1):c.1347G>A (p.Met449Ile)	Inborn genetic diseases [RCV002460972]\|not specified [RCV000192546]	uncertain significance	15	100571941	100571941	Human	1	name
155912883	CV2305164	single nucleotide variant	NM_001040616.3(LINS1):c.1064T>G (p.Val355Gly)	Inborn genetic diseases [RCV002902877]	uncertain significance	15	100573809	100573809	Human	1	name
156221994	CV2392607	single nucleotide variant	NM_001040616.3(LINS1):c.1301C>T (p.Pro434Leu)	Inborn genetic diseases [RCV002804793]	uncertain significance	15	100571987	100571987	Human	1	name
243058614	CV2413091	single nucleotide variant	NM_001040616.3(LINS1):c.2090T>G (p.Val697Gly)	Intellectual disability, autosomal recessive 27 [RCV003134070]	uncertain significance	15	100569422	100569422	Human	1	name
11582095	CV264545	single nucleotide variant	NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter)	Intellectual disability, autosomal recessive 27 [RCV000502015]\|not provided [RCV000397760]	pathogenic\|likely pathogenic	15	100573695	100573695	Human	1	name
401964052	CV2844964	single nucleotide variant	NM_001040616.3(LINS1):c.1605G>A (p.Trp535Ter)	Intellectual disability, autosomal recessive 27 [RCV003484528]	likely pathogenic	15	100569907	100569907	Human	1	name
405704759	CV3225142	single nucleotide variant	NM_001040616.3(LINS1):c.2185A>T (p.Lys729Ter)	Intellectual disability, autosomal recessive 27 [RCV003990098]	likely pathogenic	15	100569327	100569327	Human	1	name
408389667	CV3518984	single nucleotide variant	NM_001040616.3(LINS1):c.1861C>T (p.Arg621Trp)	not provided [RCV004762292]	uncertain significance	15	100569651	100569651	Human		name
408386882	CV3524276	single nucleotide variant	NM_001040616.3(LINS1):c.1351G>A (p.Glu451Lys)	not provided [RCV004768150]	uncertain significance	15	100571937	100571937	Human		name
596947852	CV3547438	single nucleotide variant	NM_001040616.3(LINS1):c.1586A>G (p.Lys529Arg)	not provided [RCV004811742]	uncertain significance	15	100569926	100569926	Human		name
598126006	CV3881736	single nucleotide variant	NM_001040616.3(LINS1):c.1223T>C (p.Val408Ala)	not provided [RCV005233287]	uncertain significance	15	100572065	100572065	Human		name
12913119	CV421998	single nucleotide variant	NM_001040616.3(LINS1):c.1096G>T (p.Glu366Ter)	not provided [RCV000493411]	pathogenic	15	100573777	100573777	Human		name
13518971	CV486128	single nucleotide variant	NM_001040616.3(LINS1):c.1298A>G (p.Asn433Ser)	Inborn genetic diseases [RCV002461374]\|not provided [RCV000585267]	uncertain significance	15	100571990	100571990	Human	1	name
13532916	CV512111	single nucleotide variant	NM_001040616.3(LINS1):c.1940G>A (p.Ser647Asn)	Inborn genetic diseases [RCV000624679]\|not provided [RCV000883427]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	15	100569572	100569572	Human	1	name
13828272	CV579916	single nucleotide variant	NM_001040616.3(LINS1):c.2040G>T (p.Arg680Ser)	Inborn genetic diseases [RCV002462069]\|not provided [RCV004715331]	benign	15	100569472	100569472	Human	1	name
13828274	CV579918	single nucleotide variant	NM_001040616.3(LINS1):c.1923G>C (p.Glu641Asp)	Inborn genetic diseases [RCV002462071]\|not provided [RCV001672928]	benign	15	100569589	100569589	Human	1	name
13829978	CV579956	single nucleotide variant	NM_001040616.3(LINS1):c.1888G>A (p.Asp630Asn)	Inborn genetic diseases [RCV002462102]	uncertain significance	15	100569624	100569624	Human	1	name
13830149	CV579963	single nucleotide variant	NM_001040616.3(LINS1):c.2027A>G (p.Glu676Gly)	Inborn genetic diseases [RCV002462107]\|not provided [RCV000900851]	likely benign\|uncertain significance	15	100569485	100569485	Human	1	name
13828359	CV579964	single nucleotide variant	NM_001040616.3(LINS1):c.1621A>G (p.Ile541Val)	Inborn genetic diseases [RCV002462075]\|not provided [RCV001675955]	benign	15	100569891	100569891	Human	1	name
13829337	CV579966	single nucleotide variant	NM_001040616.3(LINS1):c.1981C>G (p.Gln661Glu)	Inborn genetic diseases [RCV002462088]	uncertain significance	15	100569531	100569531	Human	1	name
13828277	CV579971	single nucleotide variant	NM_001040616.3(LINS1):c.1415G>C (p.Ser472Thr)	Inborn genetic diseases [RCV002462072]\|not provided [RCV001644786]	benign	15	100570097	100570097	Human	1	name
13829093	CV579979	single nucleotide variant	NM_001040616.3(LINS1):c.1222G>A (p.Val408Ile)	Inborn genetic diseases [RCV002462083]	uncertain significance	15	100573651	100573651	Human	1	name
13829975	CV579981	single nucleotide variant	NM_001040616.3(LINS1):c.1121T>C (p.Ile374Thr)	Inborn genetic diseases [RCV002462099]	uncertain significance	15	100573752	100573752	Human	1	name
13829607	CV580194	single nucleotide variant	NM_001040616.3(LINS1):c.2107G>A (p.Val703Ile)	Inborn genetic diseases [RCV002462093]	likely benign\|uncertain significance	15	100569405	100569405	Human	1	name
13829421	CV580201	single nucleotide variant	NM_001040616.3(LINS1):c.1993G>A (p.Gly665Arg)	Inborn genetic diseases [RCV002462090]\|Intellectual disability, autosomal recessive 27 [RCV001333679]\|not provided [RCV003392555]	likely benign\|uncertain significance	15	100569519	100569519	Human	2	name
13829445	CV580215	single nucleotide variant	NM_001040616.3(LINS1):c.1169T>C (p.Met390Thr)	Inborn genetic diseases [RCV002462091]	uncertain significance	15	100573704	100573704	Human	1	name
28889197	CV903601	single nucleotide variant	NM_001040616.3(LINS1):c.2270T>A (p.Leu757Ter)	Inborn genetic diseases [RCV002462338]\|Intellectual disability, autosomal recessive 27 [RCV001169846]	likely pathogenic\|uncertain significance	15	100569242	100569242	Human	2	name
13520850	CV495324	deletion	NM_001040616.3(LINS1):c.244_248del (p.Met82fs)	not provided [RCV000598974]	likely pathogenic	15	100580595	100580599	Human		name
126731314	CV1021278	duplication	NM_001040616.3(LINS1):c.681_682dup (p.Tyr228fs)	Mental retardation, autosomal recessive 27 [RCV001333683]	pathogenic	15	100574190	100574191	Human		name
598128580	CV3887784	deletion	NM_001040616.3(LINS1):c.982_985del (p.His328fs)	Intellectual disability, autosomal recessive 27 [RCV005255017]\|not provided [RCV005243958]	pathogenic	15	100573888	100573891	Human	1	name
243052645	CV970505	deletion	NM_001040616.3(LINS1):c.557_558del (p.Lys186fs)	Intellectual disability, autosomal recessive 27 [RCV003153967]	likely pathogenic	15	100575060	100575061	Human	1	name
150528798	CV1288502	microsatellite	NM_001040616.3(LINS1):c.1525CTT[1] (p.Leu510del)	not provided [RCV001726970]	uncertain significance	15	100569982	100569984	Human		name
155642297	CV1707316	microsatellite	NM_001040616.3(LINS1):c.2223GTT[1] (p.Leu743del)	Intellectual disability, autosomal recessive 27 [RCV002288246]	uncertain significance	15	100569284	100569286	Human		name
155804021	CV1856938	microsatellite	NM_001040616.3(LINS1):c.1491CTT[1] (p.Phe498del)	Inborn genetic diseases [RCV002463288]	uncertain significance	15	100570016	100570018	Human		name
126743331	CV1017869	deletion	NM_001040616.3(LINS1):c.1754_1755del (p.Asp585fs)	Inborn genetic diseases [RCV002461515]	pathogenic\|likely pathogenic	15	100569757	100569758	Human	1	name
151347949	CV1324373	deletion	NM_001040616.3(LINS1):c.1424_1425del (p.Gln475fs)	Intellectual disability, autosomal recessive 27 [RCV001808290]	likely pathogenic	15	100570087	100570088	Human	1	name
152979326	CV1675968	deletion	NM_001040616.3(LINS1):c.1727_1736del (p.Arg576fs)	Intellectual disability, autosomal recessive 27 [RCV002244556]	likely pathogenic	15	100569776	100569785	Human	1	name
596946308	CV3550573	deletion	NM_001040616.3(LINS1):c.1672_1679del (p.Gly558fs)	not provided [RCV004819112]	pathogenic	15	100569833	100569840	Human		name
126731308	CV1021279	indel	NM_001040616.3(LINS1):c.305_306delinsAA (p.Arg102Gln)	Intellectual disability, autosomal recessive 27 [RCV001333681]	uncertain significance	15	100580537	100580538	Human		name
243062462	CV2404906	indel	NM_001040616.3(LINS1):c.1921_1923delinsAC (p.Glu641fs)	Intellectual disability, autosomal recessive 27 [RCV003140455]	likely pathogenic	15	100569589	100569591	Human		name
401720261	CV2737207	indel	NM_001040616.3(LINS1):c.1186_1187delinsCC (p.Lys396Pro)	not provided [RCV003314146]	uncertain significance	15	100573686	100573687	Human		name
407513587	CV3416491	deletion	NM_001040616.3(LINS1):c.2134del (p.Arg711_Ile712insTer)	Intellectual disability, autosomal recessive 27 [RCV004674052]	likely pathogenic	15	100569378	100569378	Human	1	name
40886415	CV972794	deletion	NM_001040616.3(LINS1):c.786_842del (p.Arg263_Ser281del)	Intellectual disability, autosomal recessive 27 [RCV001264803]	uncertain significance	15	100574031	100574087	Human	1	name
8591068	CV125790	deletion	NM_001040616.3(LINS1):c.985_988del (p.His328_His329insTer)	Intellectual disability, autosomal recessive 27 [RCV000106305]	pathogenic	15	100573885	100573888	Human	1	name
150528800	CV1288503	deletion	NM_001040616.3(LINS1):c.735_758del (p.Ile245_Leu253delinsMet)	not provided [RCV001726971]	uncertain significance	15	100574115	100574138	Human		name

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