Lnp Variant Search Result - Rat Genome Database

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145 records found for search term Lnp

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
401797699	CV2741056	duplication	NM_030650.3(LNPK):c.-98dup	not provided [RCV003322220]	uncertain significance	2	176002194	176002195	Human		name
405266856	CV3218397	single nucleotide variant	NM_030650.3(LNPK):c.-18A>G	LNPK-related disorder [RCV003947253]	likely benign	2	175995602	175995602	Human		name , trait , alternate_id
405290064	CV3221137	single nucleotide variant	NM_030650.3(LNPK):c.-89G>A	LNPK-related disorder [RCV003962162]	likely benign	2	176002186	176002186	Human		name , trait , alternate_id
15144425	CV707861	single nucleotide variant	NM_030650.3(LNPK):c.-25T>A	LNPK-related disorder [RCV003916222]\|not provided [RCV000966832]	benign	2	175995609	175995609	Human	1	name , trait , alternate_id
401925007	CV2819231	single nucleotide variant	NM_030650.3(LNPK):c.70-6T>C	not provided [RCV003436254]	likely benign	2	175992424	175992424	Human		name
405287879	CV3218009	single nucleotide variant	NM_030650.3(LNPK):c.70-10C>G	LNPK-related disorder [RCV003982133]	benign	2	175992428	175992428	Human		name , trait , alternate_id
405291856	CV3221166	single nucleotide variant	NM_030650.3(LNPK):c.258-7C>T	LNPK-related disorder [RCV003964262]	likely benign	2	175979875	175979875	Human		name , trait , alternate_id
126742903	CV1015886	single nucleotide variant	NM_030650.3(LNPK):c.1054+1G>C	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum [RCV001330068]	pathogenic	2	175937343	175937343	Human	1	name
401797386	CV2740946	single nucleotide variant	NM_030650.3(LNPK):c.317-4073T>C	not provided [RCV003322110]	uncertain significance	2	175974877	175974877	Human		name
401917098	CV2819229	single nucleotide variant	NM_030650.3(LNPK):c.707-1356G>A	not provided [RCV003429380]	likely benign	2	175941013	175941013	Human		name
405276246	CV3206655	single nucleotide variant	NM_030650.3(LNPK):c.707-1347A>G	LNPK-related disorder [RCV003917096]	benign	2	175941004	175941004	Human		name , trait , alternate_id
405283461	CV3217078	duplication	NM_030650.3(LNPK):c.707-1428dup	LNPK-related disorder [RCV003979203]	likely benign	2	175941084	175941085	Human		name , trait , alternate_id
404998564	CV2850409	indel	NM_030650.3(LNPK):c.317-1_317delinsTT	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum [RCV003493065]	uncertain significance	2	175970804	175970805	Human		name
401911552	CV2800338	single nucleotide variant	NM_030650.3(LNPK):c.806A>G (p.Gln269Arg)	LNPK-related disorder [RCV003399577]	uncertain significance	2	175939558	175939558	Human		name , trait , alternate_id
405260078	CV3190153	single nucleotide variant	NM_030650.3(LNPK):c.888T>C (p.Phe296=)	LNPK-related disorder [RCV003894556]	likely benign	2	175937510	175937510	Human		name , trait , alternate_id
405260177	CV3190281	single nucleotide variant	NM_030650.3(LNPK):c.366A>G (p.Glu122=)	LNPK-related disorder [RCV003894680]	likely benign	2	175964581	175964581	Human		name , trait , alternate_id
405292437	CV3196499	single nucleotide variant	NM_030650.3(LNPK):c.1179A>G (p.Gln393=)	LNPK-related disorder [RCV003964549]	likely benign	2	175930075	175930075	Human		name , trait , alternate_id
405274934	CV3199849	single nucleotide variant	NM_030650.3(LNPK):c.476C>G (p.Thr159Ser)	LNPK-related disorder [RCV003973891]	benign	2	175964389	175964389	Human		name , trait , alternate_id
405289595	CV3205259	single nucleotide variant	NM_030650.3(LNPK):c.446G>A (p.Cys149Tyr)	LNPK-related disorder [RCV003961840]	likely benign	2	175964419	175964419	Human		name , trait , alternate_id
150335061	CV1165548	single nucleotide variant	NM_030650.3(LNPK):c.393G>A (p.Thr131=)	not provided [RCV001531330]	likely benign	2	175964554	175964554	Human		name
150529161	CV1288704	single nucleotide variant	NM_030650.3(LNPK):c.504G>A (p.Gln168=)	not provided [RCV001727172]	likely benign	2	175947682	175947682	Human		name
598129596	CV3887013	single nucleotide variant	NM_030650.3(LNPK):c.801T>C (p.Gly267=)	not provided [RCV005245073]	likely benign	2	175939563	175939563	Human		name
598226369	CV3895790	duplication	NM_030650.3(LNPK):c.104dup (p.Asn35fs)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum [RCV005362083]	uncertain significance	2	175992383	175992384	Human	1	name
243062593	CV2404981	duplication	NM_030650.3(LNPK):c.901dup (p.Cys301fs)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum [RCV003140531]	likely pathogenic	2	175937496	175937497	Human	1	name
405215669	CV2981717	deletion	NM_030650.3(LNPK):c.623del (p.Pro208fs)	not provided [RCV003709283]	pathogenic	2	175947563	175947563	Human		name
405260435	CV3185752	single nucleotide variant	NM_030650.3(LNPK):c.1158A>G (p.Ser386=)	not provided [RCV003884828]	uncertain significance	2	175930096	175930096	Human		name
596946141	CV3550425	single nucleotide variant	NM_030650.3(LNPK):c.200C>T (p.Pro67Leu)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum [RCV004818966]	uncertain significance	2	175992288	175992288	Human	1	name
617152582	CV4020807	single nucleotide variant	NM_030650.3(LNPK):c.106C>A (p.Gln36Lys)	not provided [RCV005428560]	likely benign	2	175992382	175992382	Human		name
13789982	CV550327	deletion	NM_030650.3(LNPK):c.726del (p.Pro243fs)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum [RCV000677383]	pathogenic	2	175939638	175939638	Human	1	name
150335058	CV1165547	single nucleotide variant	NM_030650.3(LNPK):c.467C>A (p.Ala156Glu)	not provided [RCV001531329]	uncertain significance	2	175964398	175964398	Human		name
151662148	CV1330262	single nucleotide variant	NM_030650.3(LNPK):c.361G>T (p.Glu121Ter)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum [RCV001823674]	likely pathogenic	2	175964586	175964586	Human	1	name
155959173	CV2193766	single nucleotide variant	NM_005575.3(LNPEP):c.266G>A (p.Arg89Gln)	not specified [RCV004074527]	uncertain significance	5	96979384	96979384	Human		name
156334871	CV2333448	single nucleotide variant	NM_030650.3(LNPK):c.478G>A (p.Ala160Thr)	Inborn genetic diseases [RCV002964609]	uncertain significance	2	175964387	175964387	Human	1	name
156098987	CV2392830	single nucleotide variant	NM_005575.3(LNPEP):c.189G>A (p.Met63Ile)	not specified [RCV004247189]	uncertain significance	5	96979307	96979307	Human		name
329848023	CV2667642	single nucleotide variant	NM_030650.3(LNPK):c.931A>G (p.Arg311Gly)	not provided [RCV003229209]	uncertain significance	2	175937467	175937467	Human		name
329848134	CV2667753	single nucleotide variant	NM_030650.3(LNPK):c.855G>A (p.Met285Ile)	not provided [RCV003229320]	uncertain significance	2	175938341	175938341	Human		name
401891462	CV2779138	single nucleotide variant	NM_005575.3(LNPEP):c.104G>A (p.Cys35Tyr)	not specified [RCV004349055]	uncertain significance	5	96979222	96979222	Human		name
401925005	CV2819230	single nucleotide variant	NM_030650.3(LNPK):c.452C>T (p.Pro151Leu)	not provided [RCV003436253]	likely benign	2	175964413	175964413	Human		name
404999019	CV2850410	single nucleotide variant	NM_030650.3(LNPK):c.757C>T (p.Arg253Ter)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum [RCV003493066]	uncertain significance	2	175939607	175939607	Human	1	name
405238482	CV3081239	single nucleotide variant	NM_030650.3(LNPK):c.682C>T (p.Pro228Ser)	not provided [RCV003736364]	uncertain significance	2	175947504	175947504	Human		name
405810070	CV3283893	single nucleotide variant	NM_005575.3(LNPEP):c.233G>A (p.Gly78Asp)	not specified [RCV004407813]	uncertain significance	5	96979351	96979351	Human		name
405810076	CV3283896	single nucleotide variant	NM_005575.3(LNPEP):c.295C>T (p.Pro99Ser)	not specified [RCV004407816]	uncertain significance	5	96979413	96979413	Human		name
405810086	CV3283901	single nucleotide variant	NM_030650.3(LNPK):c.742A>G (p.Ile248Val)	Inborn genetic diseases [RCV004407821]\|not provided [RCV004810675]	likely benign\|uncertain significance	2	175939622	175939622	Human	1	name
598238413	CV3991700	single nucleotide variant	NM_005575.3(LNPEP):c.205G>A (p.Asp69Asn)	not specified [RCV005364244]	uncertain significance	5	96979323	96979323	Human		name
598238438	CV3991709	single nucleotide variant	NM_005575.3(LNPEP):c.137A>G (p.Tyr46Cys)	not specified [RCV005364249]	uncertain significance	5	96979255	96979255	Human		name
13789546	CV550328	single nucleotide variant	NM_030650.3(LNPK):c.751C>T (p.Arg251Ter)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum [RCV000677384]	pathogenic	2	175939613	175939613	Human	1	name
28876358	CV858752	single nucleotide variant	NM_030650.3(LNPK):c.896C>T (p.Ala299Val)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum [RCV001090159]	uncertain significance	2	175937502	175937502	Human	1	name
156324775	CV2198875	single nucleotide variant	NM_005575.3(LNPEP):c.443T>C (p.Ile148Thr)	not specified [RCV004077910]	uncertain significance	5	96979561	96979561	Human		name
156380488	CV2208218	single nucleotide variant	NM_005575.3(LNPEP):c.434A>C (p.Asn145Thr)	not specified [RCV004088676]	uncertain significance	5	96979552	96979552	Human		name
156228309	CV2212966	single nucleotide variant	NM_005575.3(LNPEP):c.378G>A (p.Met126Ile)	not specified [RCV004091577]	uncertain significance	5	96979496	96979496	Human		name
156177905	CV2230453	single nucleotide variant	NM_005575.3(LNPEP):c.805A>G (p.Ser269Gly)	not specified [RCV004097432]	uncertain significance	5	96979923	96979923	Human		name
156388554	CV2231885	single nucleotide variant	NM_005575.3(LNPEP):c.592G>A (p.Val198Ile)	not specified [RCV004098678]	uncertain significance	5	96979710	96979710	Human		name
156363920	CV2262731	single nucleotide variant	NM_005575.3(LNPEP):c.736G>A (p.Val246Ile)	not specified [RCV004130916]	uncertain significance	5	96979854	96979854	Human		name
156149600	CV2318555	single nucleotide variant	NM_001085451.2(LNP1):c.82G>A (p.Glu28Lys)	not specified [RCV004173462]	uncertain significance	3	100429811	100429811	Human		name
156130641	CV2358087	single nucleotide variant	NM_005575.3(LNPEP):c.419G>T (p.Gly140Val)	not specified [RCV004211897]	uncertain significance	5	96979537	96979537	Human		name
243054184	CV2413127	single nucleotide variant	NM_030650.3(LNPK):c.1110A>G (p.Ile370Met)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum [RCV003131498]	uncertain significance	2	175930144	175930144	Human	1	name
329397703	CV2463922	single nucleotide variant	NM_005575.3(LNPEP):c.799A>G (p.Ile267Val)	not specified [RCV004279989]	uncertain significance	5	96979917	96979917	Human		name
329353184	CV2468909	single nucleotide variant	NM_005575.3(LNPEP):c.812A>C (p.Tyr271Ser)	not specified [RCV004280525]	uncertain significance	5	96979930	96979930	Human		name
401874477	CV2773990	single nucleotide variant	NM_005575.3(LNPEP):c.337G>A (p.Val113Ile)	not specified [RCV004358402]	uncertain significance	5	96979455	96979455	Human		name
401917094	CV2819227	single nucleotide variant	NM_030650.3(LNPK):c.1136T>G (p.Val379Gly)	not provided [RCV003429378]	likely benign	2	175930118	175930118	Human		name
401917096	CV2819228	single nucleotide variant	NM_030650.3(LNPK):c.1006C>T (p.Pro336Ser)	not provided [RCV003429379]	likely benign	2	175937392	175937392	Human		name
405810080	CV3283898	single nucleotide variant	NM_005575.3(LNPEP):c.643A>T (p.Asn215Tyr)	not specified [RCV004407818]	uncertain significance	5	96979761	96979761	Human		name
405810084	CV3283900	single nucleotide variant	NM_005575.3(LNPEP):c.893C>T (p.Ala298Val)	not specified [RCV004407820]	uncertain significance	5	96985112	96985112	Human		name
407471151	CV3445813	single nucleotide variant	NM_001085451.2(LNP1):c.58T>A (p.Phe20Ile)	not specified [RCV004637298]	uncertain significance	3	100429787	100429787	Human		name
407461166	CV3445814	single nucleotide variant	NM_005575.3(LNPEP):c.892G>A (p.Ala298Thr)	not specified [RCV004634058]	uncertain significance	5	96985111	96985111	Human		name
407471617	CV3445819	single nucleotide variant	NM_005575.3(LNPEP):c.767A>T (p.Asn256Ile)	not specified [RCV004637303]	uncertain significance	5	96979885	96979885	Human		name
407471613	CV3445820	single nucleotide variant	NM_005575.3(LNPEP):c.422G>T (p.Cys141Phe)	not specified [RCV004637304]	uncertain significance	5	96979540	96979540	Human		name
407471609	CV3445821	single nucleotide variant	NM_005575.3(LNPEP):c.368C>T (p.Ser123Phe)	not specified [RCV004637305]	uncertain significance	5	96979486	96979486	Human		name
597623294	CV3701810	single nucleotide variant	NM_001085451.2(LNP1):c.35C>T (p.Ser12Phe)	not specified [RCV004936325]	uncertain significance	3	100429764	100429764	Human		name
597623299	CV3701815	single nucleotide variant	NM_005575.3(LNPEP):c.418G>C (p.Gly140Arg)	not specified [RCV004936330]	uncertain significance	5	96979536	96979536	Human		name
156264210	CV2198554	single nucleotide variant	NM_001085451.2(LNP1):c.204G>T (p.Arg68Ser)	not specified [RCV004075580]	uncertain significance	3	100451766	100451766	Human		name
156072575	CV2201349	single nucleotide variant	NM_005575.3(LNPEP):c.1106T>A (p.Leu369Gln)	not specified [RCV004077475]	uncertain significance	5	96986645	96986645	Human		name
156193011	CV2217839	single nucleotide variant	NM_005575.3(LNPEP):c.2650A>G (p.Ile884Val)	not specified [RCV004084011]	uncertain significance	5	97024609	97024609	Human		name
156239200	CV2221240	single nucleotide variant	NM_005575.3(LNPEP):c.2911A>G (p.Thr971Ala)	not specified [RCV004094677]	uncertain significance	5	97027779	97027779	Human		name
156079086	CV2230403	single nucleotide variant	NM_005575.3(LNPEP):c.2564T>C (p.Leu855Pro)	not specified [RCV004101782]	uncertain significance	5	97024523	97024523	Human		name
155912017	CV2235482	single nucleotide variant	NM_005575.3(LNPEP):c.2101A>G (p.Ile701Val)	not specified [RCV004109525]	uncertain significance	5	97013713	97013713	Human		name
156121899	CV2240977	single nucleotide variant	NM_005575.3(LNPEP):c.2997T>G (p.Cys999Trp)	not specified [RCV004102250]	uncertain significance	5	97028452	97028452	Human		name
156299055	CV2248586	single nucleotide variant	NM_005575.3(LNPEP):c.1988G>A (p.Arg663Lys)	not specified [RCV004121777]	uncertain significance	5	97006468	97006468	Human		name
155990376	CV2256336	single nucleotide variant	NM_001085451.2(LNP1):c.286G>C (p.Glu96Gln)	not specified [RCV004116794]	uncertain significance	3	100451848	100451848	Human		name
155946787	CV2262444	single nucleotide variant	NM_005575.3(LNPEP):c.2804T>C (p.Phe935Ser)	not specified [RCV004128884]	uncertain significance	5	97026697	97026697	Human		name
156159039	CV2262539	single nucleotide variant	NM_005575.3(LNPEP):c.1257G>T (p.Leu419Phe)	not specified [RCV004130751]	uncertain significance	5	96993821	96993821	Human		name
155997407	CV2287025	single nucleotide variant	NM_005575.3(LNPEP):c.1039G>A (p.Glu347Lys)	not specified [RCV004144906]	uncertain significance	5	96986578	96986578	Human		name
155908872	CV2307166	single nucleotide variant	NM_005575.3(LNPEP):c.1178C>T (p.Ala393Val)	not specified [RCV004159641]	uncertain significance	5	96993061	96993061	Human		name
155964083	CV2308348	single nucleotide variant	NM_005575.3(LNPEP):c.2782A>G (p.Ile928Val)	not specified [RCV004164829]	uncertain significance	5	97026675	97026675	Human		name
155960348	CV2314015	single nucleotide variant	NM_005575.3(LNPEP):c.2374G>T (p.Val792Leu)	not specified [RCV004164305]	uncertain significance	5	97015093	97015093	Human		name
156349905	CV2316101	single nucleotide variant	NM_005575.3(LNPEP):c.2273A>C (p.Asn758Thr)	not specified [RCV004174155]	uncertain significance	5	97014992	97014992	Human		name
156052724	CV2329041	single nucleotide variant	NM_001085451.2(LNP1):c.125C>T (p.Thr42Ile)	not specified [RCV004180321]	uncertain significance	3	100429854	100429854	Human		name
156385793	CV2364565	single nucleotide variant	NM_005575.3(LNPEP):c.2230G>T (p.Val744Leu)	not specified [RCV004217421]	uncertain significance	5	97014949	97014949	Human		name
156019742	CV2367000	single nucleotide variant	NM_005575.3(LNPEP):c.1099A>G (p.Lys367Glu)	not specified [RCV004213404]	uncertain significance	5	96986638	96986638	Human		name
156034449	CV2376678	single nucleotide variant	NM_005575.3(LNPEP):c.1012G>A (p.Val338Ile)	not specified [RCV004222875]	likely benign	5	96986551	96986551	Human		name
156388571	CV2380523	single nucleotide variant	NM_001085451.2(LNP1):c.106C>T (p.Arg36Cys)	not specified [RCV004218114]	uncertain significance	3	100429835	100429835	Human		name
156054152	CV2385733	single nucleotide variant	NM_005575.3(LNPEP):c.2759G>A (p.Arg920Gln)	not specified [RCV004226484]	uncertain significance	5	97026652	97026652	Human		name
156004176	CV2400958	single nucleotide variant	NM_005575.3(LNPEP):c.2679A>G (p.Ile893Met)	not specified [RCV004244244]	uncertain significance	5	97024638	97024638	Human		name
329362562	CV2438884	single nucleotide variant	NM_005575.3(LNPEP):c.1902A>T (p.Arg634Ser)	not specified [RCV004264415]	uncertain significance	5	97006189	97006189	Human		name
329389682	CV2445310	single nucleotide variant	NM_005575.3(LNPEP):c.2757C>G (p.Phe919Leu)	not specified [RCV004263935]	uncertain significance	5	97026650	97026650	Human		name
329391420	CV2452326	single nucleotide variant	NM_005575.3(LNPEP):c.1835T>G (p.Leu612Arg)	not specified [RCV004272659]	uncertain significance	5	97006122	97006122	Human		name
401730851	CV2711532	single nucleotide variant	NM_005575.3(LNPEP):c.1316G>A (p.Arg439Gln)	not specified [RCV004306847]	uncertain significance	5	96993880	96993880	Human		name
401883572	CV2757995	single nucleotide variant	NM_005575.3(LNPEP):c.1547T>G (p.Phe516Cys)	not specified [RCV004339167]	uncertain significance	5	96998039	96998039	Human		name
401874654	CV2781096	single nucleotide variant	NM_001085451.2(LNP1):c.245T>G (p.Val82Gly)	not specified [RCV004358468]	uncertain significance	3	100451807	100451807	Human		name
401879382	CV2791549	single nucleotide variant	NM_005575.3(LNPEP):c.1639C>T (p.Leu547Phe)	not specified [RCV004358922]	uncertain significance	5	96998131	96998131	Human		name
405810053	CV3283885	single nucleotide variant	NM_005575.3(LNPEP):c.1210T>C (p.Phe404Leu)	not specified [RCV004407805]	uncertain significance	5	96993093	96993093	Human		name
405810055	CV3283886	single nucleotide variant	NM_005575.3(LNPEP):c.1295A>G (p.Asn432Ser)	not specified [RCV004407806]	uncertain significance	5	96993859	96993859	Human		name
405810057	CV3283887	single nucleotide variant	NM_005575.3(LNPEP):c.1399G>A (p.Ala467Thr)	not specified [RCV004407807]	uncertain significance	5	96993963	96993963	Human		name
405810060	CV3283888	single nucleotide variant	NM_005575.3(LNPEP):c.1544G>A (p.Arg515Gln)	not specified [RCV004407808]	uncertain significance	5	96998036	96998036	Human		name
405810062	CV3283889	single nucleotide variant	NM_005575.3(LNPEP):c.1655G>C (p.Gly552Ala)	not specified [RCV004407809]	uncertain significance	5	97003416	97003416	Human		name
405810064	CV3283890	single nucleotide variant	NM_005575.3(LNPEP):c.1776T>G (p.Ser592Arg)	not specified [RCV004407810]	uncertain significance	5	97003537	97003537	Human		name
405810066	CV3283891	single nucleotide variant	NM_005575.3(LNPEP):c.1826C>A (p.Thr609Asn)	not specified [RCV004407811]	uncertain significance	5	97006113	97006113	Human		name
405810068	CV3283892	single nucleotide variant	NM_005575.3(LNPEP):c.2045A>G (p.Asn682Ser)	not specified [RCV004407812]	uncertain significance	5	97013657	97013657	Human		name
405810072	CV3283894	single nucleotide variant	NM_005575.3(LNPEP):c.2356G>A (p.Asp786Asn)	not specified [RCV004407814]	uncertain significance	5	97015075	97015075	Human		name
405810074	CV3283895	single nucleotide variant	NM_005575.3(LNPEP):c.2947G>T (p.Val983Phe)	not specified [RCV004407815]	uncertain significance	5	97028402	97028402	Human		name
405810078	CV3283897	single nucleotide variant	NM_005575.3(LNPEP):c.2986C>G (p.Arg996Gly)	not specified [RCV004407817]	uncertain significance	5	97028441	97028441	Human		name
407471156	CV3445815	single nucleotide variant	NM_005575.3(LNPEP):c.2875G>C (p.Gly959Arg)	not specified [RCV004637299]	uncertain significance	5	97027743	97027743	Human		name
407471160	CV3445816	single nucleotide variant	NM_005575.3(LNPEP):c.1690A>G (p.Ser564Gly)	not specified [RCV004637300]	uncertain significance	5	97003451	97003451	Human		name
407471166	CV3445817	single nucleotide variant	NM_005575.3(LNPEP):c.2546C>A (p.Ser849Tyr)	not specified [RCV004637301]	uncertain significance	5	97022469	97022469	Human		name
407471170	CV3445818	single nucleotide variant	NM_005575.3(LNPEP):c.2042T>C (p.Ile681Thr)	not specified [RCV004637302]	uncertain significance	5	97013654	97013654	Human		name
597623295	CV3701811	single nucleotide variant	NM_005575.3(LNPEP):c.1538A>G (p.Asp513Gly)	not specified [RCV004936326]	uncertain significance	5	96998030	96998030	Human		name
597623296	CV3701812	single nucleotide variant	NM_005575.3(LNPEP):c.2068G>A (p.Val690Ile)	not specified [RCV004936327]	likely benign	5	97013680	97013680	Human		name
597623297	CV3701813	single nucleotide variant	NM_005575.3(LNPEP):c.2450G>A (p.Arg817Gln)	not specified [RCV004936328]	uncertain significance	5	97022373	97022373	Human		name
597623298	CV3701814	single nucleotide variant	NM_005575.3(LNPEP):c.2612A>T (p.Asp871Val)	not specified [RCV004936329]	uncertain significance	5	97024571	97024571	Human		name
597623300	CV3701816	single nucleotide variant	NM_005575.3(LNPEP):c.1922C>T (p.Pro641Leu)	not specified [RCV004936331]	uncertain significance	5	97006209	97006209	Human		name
597623301	CV3701817	single nucleotide variant	NM_005575.3(LNPEP):c.2327A>G (p.Tyr776Cys)	not specified [RCV004936332]	uncertain significance	5	97015046	97015046	Human		name
597623302	CV3701818	single nucleotide variant	NM_005575.3(LNPEP):c.1958A>T (p.His653Leu)	not specified [RCV004936333]	uncertain significance	5	97006438	97006438	Human		name
597623303	CV3701819	single nucleotide variant	NM_005575.3(LNPEP):c.1646A>T (p.Tyr549Phe)	not specified [RCV004936334]	uncertain significance	5	96998138	96998138	Human		name
597623305	CV3701821	single nucleotide variant	NM_005575.3(LNPEP):c.2420C>T (p.Thr807Ile)	not specified [RCV004936336]	uncertain significance	5	97022343	97022343	Human		name
597623306	CV3701822	single nucleotide variant	NM_005575.3(LNPEP):c.1900A>G (p.Arg634Gly)	not specified [RCV004936337]	uncertain significance	5	97006187	97006187	Human		name
598231209	CV3886433	microsatellite	NM_030650.3(LNPK):c.288CTT[1] (p.Phe98del)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum [RCV005255877]	uncertain significance	2	175979833	175979835	Human		name
598230675	CV3991699	single nucleotide variant	NM_005575.3(LNPEP):c.2567C>G (p.Pro856Arg)	not specified [RCV005362744]	uncertain significance	5	97024526	97024526	Human		name
598238418	CV3991701	single nucleotide variant	NM_005575.3(LNPEP):c.2926A>G (p.Thr976Ala)	not specified [RCV005364245]	uncertain significance	5	97027794	97027794	Human		name
598261318	CV3991702	single nucleotide variant	NM_005575.3(LNPEP):c.1117G>C (p.Val373Leu)	not specified [RCV005347815]	uncertain significance	5	96986656	96986656	Human		name
598230681	CV3991703	single nucleotide variant	NM_005575.3(LNPEP):c.1922C>G (p.Pro641Arg)	not specified [RCV005362745]	uncertain significance	5	97006209	97006209	Human		name
598230687	CV3991704	single nucleotide variant	NM_005575.3(LNPEP):c.1747T>C (p.Ser583Pro)	not specified [RCV005362746]	uncertain significance	5	97003508	97003508	Human		name
598238423	CV3991705	single nucleotide variant	NM_005575.3(LNPEP):c.2829T>A (p.Asp943Glu)	not specified [RCV005364246]	uncertain significance	5	97026722	97026722	Human		name
598238429	CV3991706	single nucleotide variant	NM_005575.3(LNPEP):c.2203A>G (p.Ile735Val)	not specified [RCV005364247]	uncertain significance	5	97013815	97013815	Human		name
598230693	CV3991707	single nucleotide variant	NM_005575.3(LNPEP):c.1714G>C (p.Val572Leu)	not specified [RCV005362747]	uncertain significance	5	97003475	97003475	Human		name
598238433	CV3991708	single nucleotide variant	NM_005575.3(LNPEP):c.2188A>C (p.Asn730His)	not specified [RCV005364248]	uncertain significance	5	97013800	97013800	Human		name
156285213	CV2291965	single nucleotide variant	NM_001085451.2(LNP1):c.458T>C (p.Val153Ala)	not specified [RCV004158474]	uncertain significance	3	100455847	100455847	Human		name
156273411	CV2293562	single nucleotide variant	NM_001085451.2(LNP1):c.373C>T (p.Arg125Cys)	not specified [RCV004153087]	uncertain significance	3	100451935	100451935	Human		name
156189167	CV2328750	single nucleotide variant	NM_001085451.2(LNP1):c.460G>A (p.Glu154Lys)	not specified [RCV004177978]	uncertain significance	3	100455849	100455849	Human		name
156308742	CV2341676	single nucleotide variant	NM_005575.3(LNPEP):c.3056A>G (p.Lys1019Arg)	not specified [RCV004182598]	uncertain significance	5	97028511	97028511	Human		name
156320764	CV2401502	microsatellite	NM_030650.3(LNPK):c.402_405del (p.Leu134fs)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum [RCV002810050]	likely pathogenic	2	175964542	175964545	Human		name
401745076	CV2693175	single nucleotide variant	NM_001085451.2(LNP1):c.309A>T (p.Arg103Ser)	not specified [RCV004293107]	uncertain significance	3	100451871	100451871	Human		name
401864910	CV2768595	single nucleotide variant	NM_001085451.2(LNP1):c.335C>T (p.Ser112Leu)	not specified [RCV004344455]	uncertain significance	3	100451897	100451897	Human		name
405810051	CV3283884	single nucleotide variant	NM_001085451.2(LNP1):c.350G>T (p.Arg117Leu)	not specified [RCV004407804]	uncertain significance	3	100451912	100451912	Human		name
597623304	CV3701820	single nucleotide variant	NM_005575.3(LNPEP):c.3055A>G (p.Lys1019Glu)	not specified [RCV004936335]	uncertain significance	5	97028510	97028510	Human		name
153001780	CV1680084	insertion	NM_001085451.2(LNP1):c.195_196insGGAATTCCGATGCCGATCGTCTGACCGTCTTCCTAGAAGGCATTCTCATGAGGACCA (p.Pro66delinsGlyIleProMetProIleValTer)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum [RCV002251716]	benign	3	100451757	100451758	Human	1	name

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