Lamc2 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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1004 records found for search term Lamc2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11595535	CV278713	single nucleotide variant	NM_005562.3(LAMC2):c.-6C>A	Junctional epidermolysis bullosa [RCV000371725]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV001537694]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV001537695]\|not provided [RCV001651336]	benign	1	183186347	183186347	Human	3	name
11591522	CV278681	single nucleotide variant	NM_005562.3(LAMC2):c.-89A>G	Junctional epidermolysis bullosa [RCV000329719]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV001537692]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV001537693]\|not provided [RCV001651335]	benign	1	183186264	183186264	Human	3	name
11596781	CV278683	single nucleotide variant	NM_005562.3(LAMC2):c.-39C>T	Junctional epidermolysis bullosa [RCV000386616]	uncertain significance	1	183186314	183186314	Human	1	name
11585388	CV278688	single nucleotide variant	NM_005562.3(LAMC2):c.-38C>G	Junctional epidermolysis bullosa [RCV000280773]\|not provided [RCV001610799]	benign\|likely benign	1	183186315	183186315	Human	1	name
11592366	CV278706	single nucleotide variant	NM_005562.3(LAMC2):c.-15C>T	Junctional epidermolysis bullosa [RCV000338112]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV000667064]	uncertain significance	1	183186338	183186338	Human	2	name
11591709	CV278762	single nucleotide variant	NM_005562.3(LAMC2):c.*13T>G	Junctional epidermolysis bullosa [RCV000331497]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV001537742]\|not provided [RCV004714704]	benign	1	183243413	183243413	Human	2	name
28896573	CV862909	single nucleotide variant	NM_005562.3(LAMC2):c.-79G>A	Junctional epidermolysis bullosa [RCV001102260]	uncertain significance	1	183186274	183186274	Human	1	name
127231023	CV1066487	single nucleotide variant	NM_005562.3(LAMC2):c.80-4C>T	not provided [RCV001395082]	likely benign	1	183207877	183207877	Human		name
127318089	CV1109729	single nucleotide variant	NM_005562.3(LAMC2):c.79+7C>T	not provided [RCV001466074]	likely benign	1	183186438	183186438	Human		name
152046149	CV1526917	single nucleotide variant	NM_005562.3(LAMC2):c.80-7T>C	not provided [RCV002166293]	likely benign	1	183207874	183207874	Human		name
152169866	CV1538752	single nucleotide variant	NM_005562.3(LAMC2):c.80-9C>T	not provided [RCV002182952]	likely benign	1	183207872	183207872	Human		name
152149105	CV1616711	single nucleotide variant	NM_005562.3(LAMC2):c.79+8G>T	not provided [RCV002201690]	likely benign	1	183186439	183186439	Human		name
152172639	CV1641682	single nucleotide variant	NM_005562.3(LAMC2):c.79+7C>G	not provided [RCV002183907]	likely benign	1	183186438	183186438	Human		name
156299905	CV2001990	single nucleotide variant	NM_005562.3(LAMC2):c.80-5C>T	not provided [RCV002671113]	likely benign	1	183207876	183207876	Human		name
156228282	CV2115548	single nucleotide variant	NM_005562.3(LAMC2):c.79+7C>A	not provided [RCV002918835]	likely benign	1	183186438	183186438	Human		name
11591146	CV277638	single nucleotide variant	NM_005562.2(LAMC2):c.-256G>C	Junctional epidermolysis bullosa [RCV000326113]	uncertain significance	1	183186097	183186097	Human	1	name
11581963	CV277645	single nucleotide variant	NM_005562.3(LAMC2):c.80-6C>T	Junctional epidermolysis bullosa [RCV000392166]\|not provided [RCV000882306]	benign\|uncertain significance	1	183207875	183207875	Human	1	name
11584967	CV277685	single nucleotide variant	NM_005562.3(LAMC2):c.*310G>A	Junctional epidermolysis bullosa [RCV000277911]\|not provided [RCV004714705]	benign\|likely benign	1	183243710	183243710	Human	1	name
11661106	CV277686	single nucleotide variant	NM_005562.3(LAMC2):c.*400T>C	Junctional epidermolysis bullosa [RCV000373511]	uncertain significance	1	183243800	183243800	Human	1	name
11597884	CV277693	single nucleotide variant	NM_005562.3(LAMC2):c.*848C>T	Junctional epidermolysis bullosa [RCV000399210]	likely benign\|uncertain significance	1	183244248	183244248	Human	1	name
11593143	CV277696	single nucleotide variant	NM_005562.3(LAMC2):c.*928A>G	Junctional epidermolysis bullosa [RCV000345764]	benign\|likely benign	1	183244328	183244328	Human	1	name
11591816	CV277818	single nucleotide variant	NM_005562.3(LAMC2):c.*362T>C	Junctional epidermolysis bullosa [RCV000332819]	benign\|likely benign	1	183243762	183243762	Human	1	name
11657118	CV277819	single nucleotide variant	NM_005562.3(LAMC2):c.*816A>T	Junctional epidermolysis bullosa [RCV000338958]	uncertain significance	1	183244216	183244216	Human	1	name
11588701	CV277824	single nucleotide variant	NM_005562.3(LAMC2):c.*875G>T	Junctional epidermolysis bullosa [RCV000304990]\|not provided [RCV004713550]	benign\|likely benign	1	183244275	183244275	Human	1	name
11595033	CV278669	single nucleotide variant	NM_005562.2(LAMC2):c.-262T>C	Junctional epidermolysis bullosa [RCV000366040]	uncertain significance	1	183186091	183186091	Human	1	name
11583777	CV278670	single nucleotide variant	NM_005562.2(LAMC2):c.-260C>A	Junctional epidermolysis bullosa [RCV000269193]\|not provided [RCV001618504]	benign	1	183186093	183186093	Human	1	name
11662447	CV278763	single nucleotide variant	NM_005562.3(LAMC2):c.*297C>A	Junctional epidermolysis bullosa [RCV000386293]	uncertain significance	1	183243697	183243697	Human	1	name
11647890	CV278764	single nucleotide variant	NM_005562.3(LAMC2):c.*593A>G	Junctional epidermolysis bullosa [RCV000279113]	uncertain significance	1	183243993	183243993	Human	1	name
11592441	CV278765	single nucleotide variant	NM_005562.3(LAMC2):c.*630C>G	Junctional epidermolysis bullosa [RCV000338810]	uncertain significance	1	183244030	183244030	Human	1	name
11595795	CV278768	single nucleotide variant	NM_005562.3(LAMC2):c.*746G>T	Junctional epidermolysis bullosa [RCV000374847]\|not provided [RCV004714706]	benign\|likely benign	1	183244146	183244146	Human	1	name
11598589	CV278769	single nucleotide variant	NM_005562.3(LAMC2):c.*986T>A	Junctional epidermolysis bullosa [RCV000407867]	uncertain significance	1	183244386	183244386	Human	1	name
11589202	CV278777	single nucleotide variant	NM_005562.2(LAMC2):c.-277G>A	Junctional epidermolysis bullosa [RCV000309113]	uncertain significance	1	183186076	183186076	Human	1	name
11596881	CV278778	single nucleotide variant	NM_005562.2(LAMC2):c.-183G>A	Junctional epidermolysis bullosa [RCV000387645]\|not provided [RCV001689973]	benign	1	183186170	183186170	Human	7	name
11647508	CV278783	single nucleotide variant	NM_005562.2(LAMC2):c.-140T>G	Junctional epidermolysis bullosa [RCV000276954]	uncertain significance	1	183186213	183186213	Human	1	name
11586057	CV278828	single nucleotide variant	NM_005562.3(LAMC2):c.*749G>A	Junctional epidermolysis bullosa [RCV000285065]	benign\|uncertain significance	1	183244149	183244149	Human	1	name
405126943	CV3017396	single nucleotide variant	NM_005562.3(LAMC2):c.80-8C>T	not provided [RCV003701304]	likely benign	1	183207873	183207873	Human		name
12740592	CV357008	single nucleotide variant	NM_005562.3(LAMC2):c.80-2A>G	Junctional epidermolysis bullosa gravis of Herlitz [RCV000412415]\|LAMC2-related disorder [RCV003897828]\|not provided [RCV001051370]	likely pathogenic	1	183207879	183207879	Human	3	name , alternate_id
26920539	CV850737	single nucleotide variant	NM_005562.3(LAMC2):c.80-2A>C	not provided [RCV001047897]	likely pathogenic	1	183207879	183207879	Human		name
28893297	CV862929	single nucleotide variant	NM_005562.3(LAMC2):c.*133C>A	Junctional epidermolysis bullosa [RCV001100904]\|not provided [RCV004715384]	benign	1	183243533	183243533	Human	1	name
28893299	CV862930	single nucleotide variant	NM_005562.3(LAMC2):c.*200G>A	Junctional epidermolysis bullosa [RCV001100905]	uncertain significance	1	183243600	183243600	Human	1	name
28893304	CV862931	single nucleotide variant	NM_005562.3(LAMC2):c.*275A>C	Junctional epidermolysis bullosa [RCV001100906]\|not provided [RCV004691369]	uncertain significance	1	183243675	183243675	Human	1	name
28882397	CV862932	single nucleotide variant	NM_005562.3(LAMC2):c.*405C>T	Junctional epidermolysis bullosa [RCV001097168]	uncertain significance	1	183243805	183243805	Human	1	name
28882399	CV862933	single nucleotide variant	NM_005562.3(LAMC2):c.*600A>G	Junctional epidermolysis bullosa [RCV001097169]	benign	1	183244000	183244000	Human	1	name
28887874	CV862934	single nucleotide variant	NM_005562.3(LAMC2):c.*846T>C	Junctional epidermolysis bullosa [RCV001098913]	uncertain significance	1	183244246	183244246	Human	1	name
28887877	CV862935	single nucleotide variant	NM_005562.3(LAMC2):c.*856C>T	Junctional epidermolysis bullosa [RCV001098914]	benign	1	183244256	183244256	Human	1	name
28887882	CV862936	single nucleotide variant	NM_005562.3(LAMC2):c.*875G>A	Junctional epidermolysis bullosa [RCV001098915]	likely benign	1	183244275	183244275	Human	1	name
28887886	CV862937	single nucleotide variant	NM_005562.3(LAMC2):c.*976C>A	Junctional epidermolysis bullosa [RCV001098916]	uncertain significance	1	183244376	183244376	Human	1	name
28892849	CV862938	single nucleotide variant	NM_005562.3(LAMC2):c.*999C>G	Junctional epidermolysis bullosa [RCV001100729]	likely benign	1	183244399	183244399	Human	1	name
127255536	CV1054761	single nucleotide variant	NM_005562.3(LAMC2):c.640+1G>A	Epidermolysis bullosa, junctional 3A, intermediate [RCV005005230]\|not provided [RCV001379389]	likely pathogenic	1	183220962	183220962	Human	1	name
127309328	CV1130628	single nucleotide variant	NM_005562.3(LAMC2):c.405-6C>T	not provided [RCV001501039]	likely benign	1	183218384	183218384	Human		name
150472552	CV1217199	duplication	NM_005562.3(LAMC2):c.80-31dup	not provided [RCV001615494]	benign	1	183207835	183207836	Human		name
150479453	CV1273470	deletion	NM_005562.3(LAMC2):c.80-31del	not provided [RCV001696674]	benign	1	183207836	183207836	Human		name
152165579	CV1536654	single nucleotide variant	NM_005562.3(LAMC2):c.764-9G>T	not provided [RCV002160477]	likely benign	1	183223126	183223126	Human		name
152128356	CV1554369	single nucleotide variant	NM_005562.3(LAMC2):c.405-7T>C	not provided [RCV002176462]	likely benign	1	183218383	183218383	Human		name
152031638	CV1571816	single nucleotide variant	NM_005562.3(LAMC2):c.268+9A>G	not provided [RCV002186743]	likely benign	1	183208078	183208078	Human		name
152134324	CV1576406	single nucleotide variant	NM_005562.3(LAMC2):c.504-7A>G	not provided [RCV002119491]	likely benign	1	183220818	183220818	Human		name
152066749	CV1601748	single nucleotide variant	NM_005562.3(LAMC2):c.640+8C>T	not provided [RCV002168765]	likely benign	1	183220969	183220969	Human		name
152101526	CV1645839	single nucleotide variant	NM_005562.3(LAMC2):c.954-4G>T	not provided [RCV002173169]	likely benign	1	183225604	183225604	Human		name
156041420	CV2089664	single nucleotide variant	NM_005562.3(LAMC2):c.640+7C>T	not provided [RCV002867456]	likely benign	1	183220968	183220968	Human		name
156260176	CV2100567	single nucleotide variant	NM_005562.3(LAMC2):c.269-1G>T	not provided [RCV002877243]	likely pathogenic	1	183215452	183215452	Human		name
155958875	CV2138174	single nucleotide variant	NM_005562.3(LAMC2):c.954-6A>T	not provided [RCV002972281]	likely benign	1	183225602	183225602	Human		name
156106788	CV2139942	single nucleotide variant	NM_005562.3(LAMC2):c.79+10C>T	not provided [RCV003002426]	likely benign	1	183186441	183186441	Human		name
11653422	CV277707	single nucleotide variant	NM_005562.3(LAMC2):c.*1008C>T	Junctional epidermolysis bullosa [RCV000310720]	uncertain significance	1	183244408	183244408	Human	1	name
11654422	CV277720	single nucleotide variant	NM_005562.3(LAMC2):c.*1067C>T	Junctional epidermolysis bullosa [RCV000317611]	uncertain significance	1	183244467	183244467	Human	1	name
11593906	CV277723	single nucleotide variant	NM_005562.3(LAMC2):c.*1097C>T	Junctional epidermolysis bullosa [RCV000353489]	benign\|likely benign	1	183244497	183244497	Human	1	name
11655066	CV277724	single nucleotide variant	NM_005562.3(LAMC2):c.*1265G>C	Junctional epidermolysis bullosa [RCV000322996]	uncertain significance	1	183244665	183244665	Human	1	name
11596406	CV277742	single nucleotide variant	NM_005562.3(LAMC2):c.*1324C>T	Junctional epidermolysis bullosa [RCV000382142]	likely benign\|uncertain significance	1	183244724	183244724	Human	1	name
11658233	CV277744	single nucleotide variant	NM_005562.3(LAMC2):c.*1456T>C	Junctional epidermolysis bullosa [RCV000347573]	uncertain significance	1	183244856	183244856	Human	1	name
11587255	CV277747	single nucleotide variant	NM_005562.3(LAMC2):c.*1617A>G	Junctional epidermolysis bullosa [RCV000293853]	uncertain significance	1	183245017	183245017	Human	1	name
11593997	CV277748	single nucleotide variant	NM_005562.3(LAMC2):c.*1686G>A	Junctional epidermolysis bullosa [RCV000354539]	uncertain significance	1	183245086	183245086	Human	1	name
11580389	CV277792	single nucleotide variant	NM_005562.3(LAMC2):c.503+6T>C	Junctional epidermolysis bullosa [RCV000331851]\|LAMC2-related disorder [RCV003910065]\|not specified [RCV003230474]	likely benign\|uncertain significance	1	183218494	183218494	Human	2	name , alternate_id
11647430	CV277827	single nucleotide variant	NM_005562.3(LAMC2):c.*1066G>C	Junctional epidermolysis bullosa [RCV000276521]	uncertain significance	1	183244466	183244466	Human	1	name
11583008	CV277828	single nucleotide variant	NM_005562.3(LAMC2):c.*1139A>T	Junctional epidermolysis bullosa [RCV000263567]	uncertain significance	1	183244539	183244539	Human	1	name
11586239	CV277836	single nucleotide variant	NM_005562.3(LAMC2):c.*1244C>G	Junctional epidermolysis bullosa [RCV000286649]	uncertain significance	1	183244644	183244644	Human	1	name
11586445	CV277838	single nucleotide variant	NM_005562.3(LAMC2):c.*1398C>T	Junctional epidermolysis bullosa [RCV000287816]	uncertain significance	1	183244798	183244798	Human	1	name
11653867	CV277839	single nucleotide variant	NM_005562.3(LAMC2):c.*1674T>A	Junctional epidermolysis bullosa [RCV000313759]	uncertain significance	1	183245074	183245074	Human	1	name
11594964	CV278781	single nucleotide variant	NM_005562.3(LAMC2):c.*1011T>C	Junctional epidermolysis bullosa [RCV000365302]	likely benign\|uncertain significance	1	183244411	183244411	Human	1	name
11589553	CV278785	single nucleotide variant	NM_005562.3(LAMC2):c.*1053C>T	Junctional epidermolysis bullosa [RCV000311675]	uncertain significance	1	183244453	183244453	Human	1	name
11660840	CV278790	single nucleotide variant	NM_005562.3(LAMC2):c.*1059G>A	Junctional epidermolysis bullosa [RCV000370952]	uncertain significance	1	183244459	183244459	Human	1	name
11654548	CV278791	single nucleotide variant	NM_005562.3(LAMC2):c.*1199G>A	Junctional epidermolysis bullosa [RCV000318720]	uncertain significance	1	183244599	183244599	Human	1	name
11598143	CV278802	single nucleotide variant	NM_005562.3(LAMC2):c.*1482A>G	Junctional epidermolysis bullosa [RCV000402159]	uncertain significance	1	183244882	183244882	Human	1	name
11663218	CV278803	single nucleotide variant	NM_005562.3(LAMC2):c.*1647A>G	Junctional epidermolysis bullosa [RCV000393786]	uncertain significance	1	183245047	183245047	Human	1	name
11596048	CV278839	single nucleotide variant	NM_005562.3(LAMC2):c.*1235G>C	Junctional epidermolysis bullosa [RCV000377967]	benign\|uncertain significance	1	183244635	183244635	Human	1	name
11658392	CV278840	single nucleotide variant	NM_005562.3(LAMC2):c.*1637G>A	Junctional epidermolysis bullosa [RCV000348793]	uncertain significance	1	183245037	183245037	Human	1	name
402476471	CV2857167	single nucleotide variant	NM_005562.3(LAMC2):c.405-4C>A	not provided [RCV003543384]	likely benign	1	183218386	183218386	Human		name
402485797	CV2945064	single nucleotide variant	NM_005562.3(LAMC2):c.504-4G>T	not provided [RCV003660058]	likely benign	1	183220821	183220821	Human		name
8564330	CV29599	single nucleotide variant	NM_005562.3(LAMC2):c.405-1G>A	Epidermolysis bullosa, junctional 3A, intermediate [RCV002051627]\|not provided [RCV001234063]	pathogenic	1	183218389	183218389	Human	1	name
402478375	CV2980337	single nucleotide variant	NM_005562.3(LAMC2):c.641-8T>C	not provided [RCV003686324]	likely benign	1	183222081	183222081	Human		name
405012602	CV2990518	single nucleotide variant	NM_005562.3(LAMC2):c.764-1G>A	not provided [RCV003694092]	likely pathogenic	1	183223134	183223134	Human		name
405035516	CV3016647	single nucleotide variant	NM_005562.3(LAMC2):c.953+8G>T	not provided [RCV003695908]	likely benign	1	183223332	183223332	Human		name
405055278	CV3023242	single nucleotide variant	NM_005562.3(LAMC2):c.405-5C>T	not provided [RCV003697296]	likely benign	1	183218385	183218385	Human		name
405253294	CV3044393	single nucleotide variant	NM_005562.3(LAMC2):c.954-6A>G	not provided [RCV003722481]	likely benign	1	183225602	183225602	Human		name
405216919	CV3055766	single nucleotide variant	NM_005562.3(LAMC2):c.79+15A>G	not provided [RCV003732772]	likely benign	1	183186446	183186446	Human		name
405237859	CV3077800	single nucleotide variant	NM_005562.3(LAMC2):c.80-18T>C	not provided [RCV003736248]	likely benign	1	183207863	183207863	Human		name
405235521	CV3079423	single nucleotide variant	NM_005562.3(LAMC2):c.80-16T>C	not provided [RCV003735822]	likely benign	1	183207865	183207865	Human		name
12740173	CV357011	single nucleotide variant	NM_005562.3(LAMC2):c.268+1G>A	Epidermolysis bullosa, junctional 3A, intermediate [RCV005010289]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV000411347]\|not provided [RCV001047194]	likely pathogenic	1	183208070	183208070	Human	2	name
12739983	CV357012	single nucleotide variant	NM_005562.3(LAMC2):c.503+1G>C	Junctional epidermolysis bullosa gravis of Herlitz [RCV000410904]\|not provided [RCV001865262]	likely pathogenic	1	183218489	183218489	Human	1	name
13784888	CV540668	single nucleotide variant	NM_005562.3(LAMC2):c.504-2A>C	Junctional epidermolysis bullosa gravis of Herlitz [RCV000671372]	likely pathogenic	1	183220823	183220823	Human	1	name
13784640	CV540670	single nucleotide variant	NM_005562.3(LAMC2):c.953+1G>A	Junctional epidermolysis bullosa gravis of Herlitz [RCV000671089]	likely pathogenic	1	183223325	183223325	Human	1	name
13786018	CV540718	single nucleotide variant	NM_005562.3(LAMC2):c.641-2A>G	Junctional epidermolysis bullosa gravis of Herlitz [RCV000672479]	likely pathogenic	1	183222087	183222087	Human	1	name
13790535	CV540729	single nucleotide variant	NM_005562.3(LAMC2):c.954-2A>T	Junctional epidermolysis bullosa gravis of Herlitz [RCV000666628]	likely pathogenic	1	183225606	183225606	Human	1	name
13783910	CV540736	single nucleotide variant	NM_005562.3(LAMC2):c.640+2T>A	Junctional epidermolysis bullosa gravis of Herlitz [RCV000670414]	likely pathogenic	1	183220963	183220963	Human	1	name
14707350	CV650672	single nucleotide variant	NM_005562.3(LAMC2):c.954-1G>A	not provided [RCV000792300]	likely pathogenic	1	183225607	183225607	Human		name
26904063	CV850939	single nucleotide variant	NM_005562.3(LAMC2):c.405-2A>G	not provided [RCV001070238]	pathogenic\|likely pathogenic	1	183218388	183218388	Human		name
28892852	CV862939	single nucleotide variant	NM_005562.3(LAMC2):c.*1021C>T	Junctional epidermolysis bullosa [RCV001100730]	uncertain significance	1	183244421	183244421	Human	1	name
28892855	CV862940	single nucleotide variant	NM_005562.3(LAMC2):c.*1031A>G	Junctional epidermolysis bullosa [RCV001100731]	uncertain significance	1	183244431	183244431	Human	1	name
28893514	CV862941	single nucleotide variant	NM_005562.3(LAMC2):c.*1138T>C	Junctional epidermolysis bullosa [RCV001100995]	uncertain significance	1	183244538	183244538	Human	1	name
28882722	CV862942	single nucleotide variant	NM_005562.3(LAMC2):c.*1650A>G	Junctional epidermolysis bullosa [RCV001097258]	uncertain significance	1	183245050	183245050	Human	1	name
28888193	CV862943	single nucleotide variant	NM_005562.3(LAMC2):c.*1700G>A	Junctional epidermolysis bullosa [RCV001099012]	uncertain significance	1	183245100	183245100	Human	1	name
126753180	CV1035763	single nucleotide variant	NM_005562.3(LAMC2):c.2015-2A>G	Junctional epidermolysis bullosa [RCV001352885]	pathogenic	1	183232650	183232650	Human	1	name
127249097	CV1054762	single nucleotide variant	NM_005562.3(LAMC2):c.1715-2A>G	Epidermolysis bullosa, junctional 3A, intermediate [RCV005005904]\|not provided [RCV001378088]	likely pathogenic	1	183230959	183230959	Human	1	name
127247540	CV1054763	single nucleotide variant	NM_005562.3(LAMC2):c.2015-1G>T	not provided [RCV001377796]	likely pathogenic	1	183232651	183232651	Human		name
127241843	CV1066495	single nucleotide variant	NM_005562.3(LAMC2):c.1067-7A>G	not provided [RCV001398079]	likely benign	1	183226691	183226691	Human		name
127250189	CV1066520	single nucleotide variant	NM_005562.3(LAMC2):c.3069+8G>T	not provided [RCV001399824]	likely benign	1	183239571	183239571	Human		name
127282613	CV1088218	single nucleotide variant	NM_005562.3(LAMC2):c.1067-8G>A	not provided [RCV001447983]	likely benign	1	183226690	183226690	Human		name
127260831	CV1088228	single nucleotide variant	NM_005562.3(LAMC2):c.1468+9A>C	not provided [RCV001438695]	likely benign	1	183227706	183227706	Human		name
127281506	CV1088231	single nucleotide variant	NM_005562.3(LAMC2):c.2015-8G>A	not provided [RCV001447204]	likely benign	1	183232644	183232644	Human		name
127297438	CV1109746	single nucleotide variant	NM_005562.3(LAMC2):c.1714+9C>T	not provided [RCV001460248]	likely benign	1	183228628	183228628	Human		name
127317585	CV1109750	single nucleotide variant	NM_005562.3(LAMC2):c.1857+7A>C	not provided [RCV001465936]	likely benign	1	183231110	183231110	Human		name
127319374	CV1130631	single nucleotide variant	NM_005562.3(LAMC2):c.763+10G>A	not provided [RCV001504001]	likely benign	1	183222221	183222221	Human		name
127301554	CV1130646	single nucleotide variant	NM_005562.3(LAMC2):c.2014+8A>G	not provided [RCV001478743]	likely benign	1	183232351	183232351	Human		name
127325803	CV1130648	single nucleotide variant	NM_005562.3(LAMC2):c.2221-6C>T	not provided [RCV001506109]	likely benign	1	183234361	183234361	Human		name
127330635	CV1130653	single nucleotide variant	NM_005562.3(LAMC2):c.2457-9C>T	not provided [RCV001488258]	likely benign	1	183236451	183236451	Human		name
150339636	CV1167173	deletion	NM_005562.3(LAMC2):c.79+150del	not provided [RCV001534399]	benign	1	183186581	183186581	Human		name
150332854	CV1169997	single nucleotide variant	NM_005562.3(LAMC2):c.405-31T>C	Junctional epidermolysis bullosa gravis of Herlitz [RCV001537730]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV001537731]\|not provided [RCV001676036]	benign	1	183218359	183218359	Human	2	name
150332858	CV1169998	single nucleotide variant	NM_005562.3(LAMC2):c.641-80C>T	Junctional epidermolysis bullosa gravis of Herlitz [RCV001537734]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV001537735]\|not provided [RCV001655829]	benign	1	183222009	183222009	Human	2	name
150472993	CV1235153	single nucleotide variant	NM_005562.3(LAMC2):c.269-64C>T	not provided [RCV001651522]	benign	1	183215389	183215389	Human		name
150500997	CV1238294	single nucleotide variant	NM_005562.3(LAMC2):c.79+212A>C	not provided [RCV001656724]	benign	1	183186643	183186643	Human	1	name
150500997	CV1238294	single nucleotide variant	NM_005562.3(LAMC2):c.79+212A>C	not provided [RCV001656724]	benign	1	183186643	183186644	Human	1	name
150479007	CV1240598	single nucleotide variant	NM_005562.3(LAMC2):c.79+134C>A	not provided [RCV001652473]	benign	1	183186565	183186565	Human		name
150431486	CV1243712	single nucleotide variant	NM_005562.3(LAMC2):c.79+151C>A	not provided [RCV001663332]	benign	1	183186582	183186582	Human		name
150479370	CV1258243	single nucleotide variant	NM_005562.3(LAMC2):c.953+37A>G	not provided [RCV001685661]	benign	1	183223361	183223361	Human		name
150466471	CV1268778	single nucleotide variant	NM_005562.3(LAMC2):c.268+39G>A	not provided [RCV001694475]	benign	1	183208108	183208108	Human		name
150484551	CV1273800	single nucleotide variant	NM_005562.3(LAMC2):c.268+53A>G	not provided [RCV001698522]	benign	1	183208122	183208122	Human		name
150544645	CV1313471	deletion	NM_005562.3(LAMC2):c.2601+1del	not provided [RCV001783549]	pathogenic	1	183236604	183236604	Human		name
151886093	CV1367256	single nucleotide variant	NM_005562.3(LAMC2):c.1285+1G>A	not provided [RCV002000617]	likely pathogenic	1	183226917	183226917	Human		name
151791526	CV1375618	single nucleotide variant	NM_005562.3(LAMC2):c.2602-1G>A	not provided [RCV001973100]	likely pathogenic	1	183237351	183237351	Human		name
151853601	CV1459274	single nucleotide variant	NM_005562.3(LAMC2):c.2014+5T>C	not provided [RCV002016909]\|not specified [RCV003230726]	uncertain significance	1	183232348	183232348	Human		name
152130148	CV1539080	single nucleotide variant	NM_005562.3(LAMC2):c.1715-4C>G	not provided [RCV002217958]	likely benign	1	183230957	183230957	Human		name
152112470	CV1541822	single nucleotide variant	NM_005562.3(LAMC2):c.2301-7C>T	not provided [RCV002116733]	likely benign	1	183235568	183235568	Human		name
152072449	CV1552328	single nucleotide variant	NM_005562.3(LAMC2):c.3229-8G>A	not provided [RCV002148267]	likely benign	1	183240284	183240284	Human		name
152068763	CV1562031	single nucleotide variant	NM_005562.3(LAMC2):c.3228+8C>T	not provided [RCV002169017]	likely benign	1	183240206	183240206	Human		name
152156275	CV1589494	single nucleotide variant	NM_005562.3(LAMC2):c.1714+8T>A	not provided [RCV002122476]	likely benign	1	183228627	183228627	Human		name
152173428	CV1590045	single nucleotide variant	NM_005562.3(LAMC2):c.504-10G>A	not provided [RCV002184172]	likely benign	1	183220815	183220815	Human		name
152174473	CV1591069	single nucleotide variant	NM_005562.3(LAMC2):c.2221-5C>T	not provided [RCV002184521]	likely benign	1	183234362	183234362	Human		name
152091723	CV1594343	single nucleotide variant	NM_005562.3(LAMC2):c.2015-4T>A	not provided [RCV002171910]	likely benign	1	183232648	183232648	Human		name
152172442	CV1599126	single nucleotide variant	NM_005562.3(LAMC2):c.1469-7T>C	not provided [RCV002143779]	likely benign	1	183228367	183228367	Human		name
152033347	CV1603188	single nucleotide variant	NM_005562.3(LAMC2):c.1715-8G>C	not provided [RCV002086775]	likely benign	1	183230953	183230953	Human		name
152097611	CV1611569	single nucleotide variant	NM_005562.3(LAMC2):c.2602-7C>T	not provided [RCV002172675]	likely benign	1	183237345	183237345	Human		name
152157375	CV1615912	single nucleotide variant	NM_005562.3(LAMC2):c.1067-5T>C	not provided [RCV002159019]	likely benign	1	183226693	183226693	Human		name
152164167	CV1619681	single nucleotide variant	NM_005562.3(LAMC2):c.268+10A>G	not provided [RCV002181480]	likely benign	1	183208079	183208079	Human		name
152115899	CV1662435	single nucleotide variant	NM_005562.3(LAMC2):c.641-19G>A	not provided [RCV002097479]	likely benign	1	183222070	183222070	Human		name
152983094	CV1677934	deletion	NM_005562.3(LAMC2):c.1066+1del	Junctional epidermolysis bullosa gravis of Herlitz [RCV002250088]	pathogenic	1	183225721	183225721	Human	1	name
156148934	CV1899599	single nucleotide variant	NM_005562.3(LAMC2):c.2015-7C>T	not provided [RCV003082481]	likely benign	1	183232645	183232645	Human		name
156374021	CV1901994	single nucleotide variant	NM_005562.3(LAMC2):c.2220+2T>C	not provided [RCV003092706]	likely pathogenic	1	183232859	183232859	Human		name
156405997	CV1921422	single nucleotide variant	NM_005562.3(LAMC2):c.2015-6G>T	not provided [RCV002606464]	likely benign	1	183232646	183232646	Human		name
156353225	CV1985812	single nucleotide variant	NM_005562.3(LAMC2):c.2870-7A>G	not provided [RCV002632134]	likely benign	1	183239357	183239357	Human		name
156269245	CV2026806	single nucleotide variant	NM_005562.3(LAMC2):c.1858-7G>A	not provided [RCV002746580]	likely benign	1	183232180	183232180	Human		name
156275807	CV2046398	single nucleotide variant	NM_005562.3(LAMC2):c.1469-8C>A	not provided [RCV002770211]	likely benign	1	183228366	183228366	Human		name
156004053	CV2064657	single nucleotide variant	NM_005562.3(LAMC2):c.3328+8A>G	not provided [RCV002843545]	likely benign	1	183240399	183240399	Human		name
155929109	CV2067170	single nucleotide variant	NM_005562.3(LAMC2):c.2601+9A>G	not provided [RCV002838673]	likely benign	1	183236613	183236613	Human		name
155911010	CV2069459	single nucleotide variant	NM_005562.3(LAMC2):c.1066+9C>T	not provided [RCV002837715]	likely benign	1	183225729	183225729	Human		name
156316395	CV2086204	single nucleotide variant	NM_005562.3(LAMC2):c.2015-9T>C	not provided [RCV002899018]	likely benign	1	183232643	183232643	Human		name
156202894	CV2092581	single nucleotide variant	NM_005562.3(LAMC2):c.3229-9T>C	not provided [RCV002917853]	likely benign	1	183240283	183240283	Human		name
156317055	CV2140386	single nucleotide variant	NM_005562.3(LAMC2):c.2457-6C>A	not provided [RCV003011451]	likely benign	1	183236454	183236454	Human		name
156352277	CV2157667	single nucleotide variant	NM_005562.3(LAMC2):c.2870-7A>C	not provided [RCV003030965]	likely benign	1	183239357	183239357	Human		name
156328476	CV2161136	single nucleotide variant	NM_005562.3(LAMC2):c.1468+7C>T	not provided [RCV003029628]	likely benign	1	183227704	183227704	Human		name
156191244	CV2162072	single nucleotide variant	NM_005562.3(LAMC2):c.3328+9A>T	not provided [RCV003041658]	likely benign	1	183240400	183240400	Human		name
156086640	CV2170617	single nucleotide variant	NM_005562.3(LAMC2):c.2755-8T>C	not provided [RCV003038070]	likely benign	1	183238299	183238299	Human		name
243056439	CV2418751	single nucleotide variant	NM_005562.3(LAMC2):c.1468+5G>A	not specified [RCV003155718]	uncertain significance	1	183227702	183227702	Human		name
11545723	CV249573	single nucleotide variant	NM_005562.3(LAMC2):c.268+14A>G	Junctional epidermolysis bullosa [RCV000340703]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV001537696]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV001537697]\|not provided [RCV001618441]\|not specified [RCV000245521]	benign	1	183208083	183208083	Human	3	name
11578983	CV274810	single nucleotide variant	NM_005562.3(LAMC2):c.2754+9T>C	Junctional epidermolysis bullosa [RCV000293321]\|not provided [RCV000958516]\|not specified [RCV000277281]	benign\|likely benign\|uncertain significance	1	183237513	183237513	Human	1	name
11581111	CV277793	single nucleotide variant	NM_005562.3(LAMC2):c.503+14G>A	Junctional epidermolysis bullosa [RCV000356338]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV000664729]\|not provided [RCV003574730]	likely benign\|uncertain significance	1	183218502	183218502	Human	2	name
11581924	CV278729	single nucleotide variant	NM_005562.3(LAMC2):c.954-15T>C	Junctional epidermolysis bullosa [RCV000390255]\|not provided [RCV003736692]	likely benign\|uncertain significance	1	183225593	183225593	Human	1	name
11581962	CV278787	single nucleotide variant	NM_005562.3(LAMC2):c.269-15C>T	Junctional epidermolysis bullosa [RCV000392161]\|not provided [RCV000842758]	benign\|likely benign\|uncertain significance	1	183215438	183215438	Human	1	name
402476613	CV2857330	single nucleotide variant	NM_005562.3(LAMC2):c.2014+9G>A	not provided [RCV003543482]	likely benign	1	183232352	183232352	Human		name
402476766	CV2857397	single nucleotide variant	NM_005562.3(LAMC2):c.953+18A>G	not provided [RCV003543507]	likely benign	1	183223342	183223342	Human		name
402522579	CV2867574	single nucleotide variant	NM_005562.3(LAMC2):c.3069+1G>A	not provided [RCV003547873]	likely pathogenic	1	183239564	183239564	Human		name
402502089	CV2869267	single nucleotide variant	NM_005562.3(LAMC2):c.3070-5C>T	not provided [RCV003546014]	likely benign	1	183240035	183240035	Human		name
405205774	CV2873761	single nucleotide variant	NM_005562.3(LAMC2):c.3070-8T>C	not provided [RCV003551922]	likely benign	1	183240032	183240032	Human		name
405197621	CV2880293	single nucleotide variant	NM_005562.3(LAMC2):c.1715-6C>T	not provided [RCV003551044]	likely benign	1	183230955	183230955	Human		name
402494560	CV2887419	duplication	NM_005562.3(LAMC2):c.641-10dup	not provided [RCV003573359]	likely benign	1	183222076	183222077	Human		name
405162976	CV2895493	single nucleotide variant	NM_005562.3(LAMC2):c.268+16G>A	not provided [RCV003562525]	likely benign	1	183208085	183208085	Human		name
405111819	CV2903322	single nucleotide variant	NM_005562.3(LAMC2):c.504-14C>T	not provided [RCV003557991]	likely benign	1	183220811	183220811	Human		name
405136768	CV2907068	single nucleotide variant	NM_005562.3(LAMC2):c.2300+7A>C	not provided [RCV003560512]	likely benign	1	183234453	183234453	Human		name
405222108	CV2908338	single nucleotide variant	NM_005562.3(LAMC2):c.1715-5T>C	not provided [RCV003568592]	likely benign	1	183230956	183230956	Human		name
405125808	CV2939435	single nucleotide variant	NM_005562.3(LAMC2):c.1715-4C>T	not provided [RCV003671942]	likely benign	1	183230957	183230957	Human		name
405072921	CV2940508	single nucleotide variant	NM_005562.3(LAMC2):c.953+12G>A	not provided [RCV003659527]	likely benign	1	183223336	183223336	Human		name
405146450	CV2949951	single nucleotide variant	NM_005562.3(LAMC2):c.3229-1G>A	not provided [RCV003669668]	likely pathogenic	1	183240291	183240291	Human		name
405132354	CV2950035	single nucleotide variant	NM_005562.3(LAMC2):c.2300+8G>A	not provided [RCV003672519]	likely benign	1	183234454	183234454	Human		name
405121129	CV2953944	single nucleotide variant	NM_005562.3(LAMC2):c.953+14C>A	not provided [RCV003667459]	likely benign	1	183223338	183223338	Human		name
8564328	CV29593	single nucleotide variant	NM_005562.3(LAMC2):c.1067-1G>A	Epidermolysis bullosa, junctional 3B, severe [RCV002051621]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV000015655]	pathogenic	1	183226697	183226697	Human	2	name
405178497	CV2959862	deletion	NM_005562.3(LAMC2):c.404+20del	not provided [RCV003676047]	likely benign	1	183215607	183215607	Human		name
405147798	CV2962852	single nucleotide variant	NM_005562.3(LAMC2):c.954-18T>G	not provided [RCV003673778]	likely benign	1	183225590	183225590	Human		name
405241227	CV2970702	single nucleotide variant	NM_005562.3(LAMC2):c.3070-6T>C	not provided [RCV003684085]	likely benign	1	183240034	183240034	Human		name
405238469	CV2996733	single nucleotide variant	NM_005562.3(LAMC2):c.405-11T>C	not provided [RCV003718673]	likely benign	1	183218379	183218379	Human		name
405205478	CV2997720	single nucleotide variant	NM_005562.3(LAMC2):c.3328+5G>C	not provided [RCV003678679]	uncertain significance	1	183240396	183240396	Human		name
402481944	CV3001221	single nucleotide variant	NM_005562.3(LAMC2):c.405-19T>G	not provided [RCV003686682]	likely benign	1	183218371	183218371	Human		name
402524897	CV3015170	single nucleotide variant	NM_005562.3(LAMC2):c.3229-8G>T	not provided [RCV003690568]	likely benign	1	183240284	183240284	Human		name
405115125	CV3019246	single nucleotide variant	NM_005562.3(LAMC2):c.1286-9T>G	not provided [RCV003700119]	likely benign	1	183227506	183227506	Human		name
405182095	CV3024412	single nucleotide variant	NM_005562.3(LAMC2):c.2869+9T>A	not provided [RCV003705636]	likely benign	1	183238430	183238430	Human		name
405150182	CV3031274	single nucleotide variant	NM_005562.3(LAMC2):c.504-15A>G	not provided [RCV003703238]	likely benign	1	183220810	183220810	Human		name
405150605	CV3031320	single nucleotide variant	NM_005562.3(LAMC2):c.269-11G>T	not provided [RCV003703267]	likely benign	1	183215442	183215442	Human		name
405253096	CV3044174	single nucleotide variant	NM_005562.3(LAMC2):c.763+19C>A	not provided [RCV003722382]	likely benign	1	183222230	183222230	Human		name
405133262	CV3047518	single nucleotide variant	NM_005562.3(LAMC2):c.641-16T>G	not provided [RCV003725018]	likely benign	1	183222073	183222073	Human		name
405130196	CV3050961	single nucleotide variant	NM_005562.3(LAMC2):c.269-17T>C	not provided [RCV003724758]	likely benign	1	183215436	183215436	Human		name
405209867	CV3061945	deletion	NM_005562.3(LAMC2):c.2457-9del	not provided [RCV003731740]	benign	1	183236447	183236447	Human		name
405203342	CV3063228	single nucleotide variant	NM_005562.3(LAMC2):c.640+12T>C	not provided [RCV003731017]	likely benign	1	183220973	183220973	Human		name
405193997	CV3066378	single nucleotide variant	NM_005562.3(LAMC2):c.404+20C>T	not provided [RCV003729991]	likely benign	1	183215608	183215608	Human		name
405040322	CV3067805	single nucleotide variant	NM_005562.3(LAMC2):c.503+13C>T	not provided [RCV003739778]	likely benign	1	183218501	183218501	Human		name
405214655	CV3124475	single nucleotide variant	NM_005562.3(LAMC2):c.1286-6C>A	not provided [RCV003823837]	likely benign	1	183227509	183227509	Human		name
405165513	CV3125601	single nucleotide variant	NM_005562.3(LAMC2):c.504-17C>A	not provided [RCV003818684]	likely benign	1	183220808	183220808	Human		name
405137845	CV3130717	single nucleotide variant	NM_005562.3(LAMC2):c.953+15C>T	not provided [RCV003838951]	likely benign	1	183223339	183223339	Human		name
405200064	CV3147138	single nucleotide variant	NM_005562.3(LAMC2):c.640+13A>G	not provided [RCV003844298]	likely benign	1	183220974	183220974	Human		name
405057436	CV3147713	single nucleotide variant	NM_005562.3(LAMC2):c.504-18T>C	not provided [RCV003849943]	likely benign	1	183220807	183220807	Human		name
405247729	CV3159093	single nucleotide variant	NM_005562.3(LAMC2):c.2601+1G>C	not provided [RCV003869238]	likely pathogenic	1	183236605	183236605	Human		name
402465869	CV3177366	single nucleotide variant	NM_005562.3(LAMC2):c.764-13C>T	not provided [RCV003872997]	likely benign	1	183223122	183223122	Human		name
405252506	CV3177985	single nucleotide variant	NM_005562.3(LAMC2):c.269-20C>T	not provided [RCV003870765]	likely benign	1	183215433	183215433	Human		name
405253865	CV3178684	single nucleotide variant	NM_005562.3(LAMC2):c.953+16A>G	not provided [RCV003871286]	likely benign	1	183223340	183223340	Human		name
404987246	CV3179741	single nucleotide variant	NM_005562.3(LAMC2):c.763+15A>G	not provided [RCV003881218]	likely benign	1	183222226	183222226	Human		name
405873592	CV3398665	single nucleotide variant	NM_005562.3(LAMC2):c.1468+1G>A	Epidermolysis bullosa, junctional 3B, severe [RCV004576144]	likely pathogenic	1	183227698	183227698	Human	1	name
407573170	CV3498971	single nucleotide variant	NM_005562.3(LAMC2):c.2456+6T>G	not specified [RCV004699940]	uncertain significance	1	183235736	183235736	Human		name
596922097	CV3529626	single nucleotide variant	NM_005562.3(LAMC2):c.1857+1G>A	Epidermolysis bullosa, junctional 3A, intermediate [RCV004776502]	likely pathogenic	1	183231104	183231104	Human	1	name
12739361	CV357017	single nucleotide variant	NM_005562.3(LAMC2):c.1715-1G>C	Junctional epidermolysis bullosa gravis of Herlitz [RCV000409444]\|not provided [RCV002523878]	likely pathogenic	1	183230960	183230960	Human	1	name
12740375	CV357018	single nucleotide variant	NM_005562.3(LAMC2):c.1858-1G>A	Junctional epidermolysis bullosa gravis of Herlitz [RCV000411834]	likely pathogenic	1	183232186	183232186	Human	1	name
597959708	CV3746080	single nucleotide variant	NM_005562.3(LAMC2):c.1286-4C>G	not provided [RCV005081328]	likely benign	1	183227511	183227511	Human		name
597952678	CV3765703	single nucleotide variant	NM_005562.3(LAMC2):c.954-16A>G	not provided [RCV005121347]	likely benign	1	183225592	183225592	Human		name
597923425	CV3772425	single nucleotide variant	NM_005562.3(LAMC2):c.641-12T>C	not provided [RCV005115575]	likely benign	1	183222077	183222077	Human		name
597873883	CV3775413	single nucleotide variant	NM_005562.3(LAMC2):c.954-12T>A	not provided [RCV005123143]	likely benign	1	183225596	183225596	Human		name
597966172	CV3823583	single nucleotide variant	NM_005562.3(LAMC2):c.641-16T>A	not provided [RCV005165003]	likely benign	1	183222073	183222073	Human		name
13786936	CV540671	single nucleotide variant	NM_005562.3(LAMC2):c.1714+2T>C	Junctional epidermolysis bullosa gravis of Herlitz [RCV000673186]	likely pathogenic	1	183228621	183228621	Human	1	name
13786694	CV540675	single nucleotide variant	NM_005562.3(LAMC2):c.2755-2A>G	Epidermolysis bullosa, junctional 3A, intermediate [RCV005010668]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV000673036]	pathogenic\|likely pathogenic	1	183238305	183238305	Human	2	name
13791185	CV540734	single nucleotide variant	NM_005562.3(LAMC2):c.3069+1G>C	Junctional epidermolysis bullosa gravis of Herlitz [RCV000667177]	likely pathogenic	1	183239564	183239564	Human	1	name
13789834	CV540740	single nucleotide variant	NM_005562.3(LAMC2):c.1468+1G>T	Junctional epidermolysis bullosa gravis of Herlitz [RCV000674713]\|not provided [RCV001855613]	likely pathogenic	1	183227698	183227698	Human	1	name
13791727	CV540741	deletion	NM_005562.3(LAMC2):c.1468+1del	Junctional epidermolysis bullosa gravis of Herlitz [RCV000667824]	likely pathogenic	1	183227697	183227697	Human	1	name
13783923	CV540742	single nucleotide variant	NM_005562.3(LAMC2):c.1715-1G>A	Junctional epidermolysis bullosa gravis of Herlitz [RCV000670422]	likely pathogenic	1	183230960	183230960	Human	1	name
13787674	CV540744	single nucleotide variant	NM_005562.3(LAMC2):c.2014+1G>A	Junctional epidermolysis bullosa gravis of Herlitz [RCV000664978]\|not provided [RCV005091921]	likely pathogenic	1	183232344	183232344	Human	1	name
13783121	CV540749	single nucleotide variant	NM_005562.3(LAMC2):c.2456+1G>C	Junctional epidermolysis bullosa gravis of Herlitz [RCV000669715]	likely pathogenic	1	183235731	183235731	Human	1	name
13782689	CV540750	single nucleotide variant	NM_005562.3(LAMC2):c.2220+2T>G	Junctional epidermolysis bullosa gravis of Herlitz [RCV000669182]	likely pathogenic	1	183232859	183232859	Human	1	name
13789716	CV540752	duplication	NM_005562.3(LAMC2):c.2456+2dup	Junctional epidermolysis bullosa gravis of Herlitz [RCV000666138]	uncertain significance	1	183235731	183235732	Human	1	name
13787743	CV540756	single nucleotide variant	NM_005562.3(LAMC2):c.2602-1G>C	Junctional epidermolysis bullosa gravis of Herlitz [RCV000673617]	likely pathogenic	1	183237351	183237351	Human	1	name
13791966	CV540769	single nucleotide variant	NM_005562.3(LAMC2):c.3329-2A>G	Junctional epidermolysis bullosa gravis of Herlitz [RCV000668123]	likely pathogenic	1	183243145	183243145	Human	1	name
13832092	CV582584	single nucleotide variant	NM_005562.3(LAMC2):c.3328+1G>A	Epidermolysis bullosa, junctional 3A, intermediate [RCV005010732]\|not provided [RCV000722775]	pathogenic\|likely pathogenic\|uncertain significance	1	183240392	183240392	Human	1	name
14692945	CV620709	single nucleotide variant	NM_005562.3(LAMC2):c.2221-1G>A	Junctional epidermolysis bullosa [RCV000778202]	uncertain significance	1	183234366	183234366	Human		name
14690257	CV621706	single nucleotide variant	NM_005562.3(LAMC2):c.1066+1G>T	Junctional epidermolysis bullosa [RCV000780372]	likely pathogenic	1	183225721	183225721	Human	1	name
15146081	CV758836	single nucleotide variant	NM_005562.3(LAMC2):c.2015-6G>A	not provided [RCV000922658]	likely benign	1	183232646	183232646	Human		name
15101463	CV787000	single nucleotide variant	NM_005562.3(LAMC2):c.1067-9C>T	not provided [RCV000975589]	likely benign	1	183226689	183226689	Human		name
15107368	CV787002	single nucleotide variant	NM_005562.3(LAMC2):c.2601+7G>A	not provided [RCV000976813]	likely benign	1	183236611	183236611	Human		name
28887220	CV865044	single nucleotide variant	NM_005562.3(LAMC2):c.1286-4C>T	Junctional epidermolysis bullosa [RCV001098706]\|not provided [RCV001482171]	likely benign\|uncertain significance	1	183227511	183227511	Human	1	name
127267947	CV1066503	single nucleotide variant	NM_005562.3(LAMC2):c.1858-10G>A	not provided [RCV001404277]	likely benign	1	183232177	183232177	Human		name
127296877	CV1109739	single nucleotide variant	NM_005562.3(LAMC2):c.1286-10C>T	not provided [RCV001477477]	likely benign	1	183227505	183227505	Human		name
127333499	CV1130662	single nucleotide variant	NM_005562.3(LAMC2):c.3328+10C>A	not provided [RCV001490234]	likely benign	1	183240401	183240401	Human		name
150332161	CV1168800	single nucleotide variant	NM_005562.3(LAMC2):c.3070-89C>A	not provided [RCV001536776]	benign	1	183239951	183239951	Human		name
150513451	CV1211935	single nucleotide variant	NM_005562.3(LAMC2):c.763+303C>T	not provided [RCV001598456]	benign	1	183222514	183222514	Human		name
150435026	CV1216038	single nucleotide variant	NM_005562.3(LAMC2):c.404+125T>G	not provided [RCV001609228]	benign	1	183215713	183215713	Human		name
150487177	CV1225865	deletion	NM_005562.3(LAMC2):c.2457-54del	not provided [RCV001618026]	benign	1	183236389	183236389	Human		name
150516211	CV1228274	single nucleotide variant	NM_005562.3(LAMC2):c.3070-96C>T	not provided [RCV001639080]	benign	1	183239944	183239944	Human		name
150486571	CV1251378	single nucleotide variant	NM_005562.3(LAMC2):c.268+250T>C	not provided [RCV001674049]	benign	1	183208319	183208319	Human		name
150505020	CV1255363	single nucleotide variant	NM_005562.3(LAMC2):c.1714+74G>A	not provided [RCV001677810]	benign	1	183228693	183228693	Human		name
150441559	CV1265803	single nucleotide variant	NM_005562.3(LAMC2):c.954-124A>G	not provided [RCV001690528]	benign	1	183225484	183225484	Human		name
150448373	CV1270451	single nucleotide variant	NM_005562.3(LAMC2):c.404+237C>T	not provided [RCV001691589]	benign	1	183215825	183215825	Human		name
150468352	CV1277719	single nucleotide variant	NM_005562.3(LAMC2):c.269-160C>T	not provided [RCV001711014]	benign	1	183215293	183215293	Human		name
152153098	CV1623345	single nucleotide variant	NM_005562.3(LAMC2):c.1468+10T>C	not provided [RCV002221118]	likely benign	1	183227707	183227707	Human		name
152081693	CV1641408	single nucleotide variant	NM_005562.3(LAMC2):c.2457-18C>T	not provided [RCV002211505]	likely benign	1	183236442	183236442	Human		name
156272406	CV1880377	microsatellite	NM_005562.3(LAMC2):c.953+7AG[2]	not provided [RCV003060767]	likely benign	1	183223331	183223332	Human		name
156389149	CV1888457	single nucleotide variant	NM_005562.3(LAMC2):c.3069+12T>G	not provided [RCV003067832]	likely benign	1	183239575	183239575	Human		name
156417026	CV1970164	single nucleotide variant	NM_005562.3(LAMC2):c.1714+10C>T	not provided [RCV002589994]	likely benign	1	183228629	183228629	Human		name
156026334	CV2055842	single nucleotide variant	NM_005562.3(LAMC2):c.2870-10T>G	not provided [RCV002820864]	likely benign	1	183239354	183239354	Human		name
156327197	CV2068717	single nucleotide variant	NM_005562.3(LAMC2):c.3070-10C>T	not provided [RCV002835085]	likely benign	1	183240030	183240030	Human		name
156243211	CV2086079	single nucleotide variant	NM_005562.3(LAMC2):c.2870-10T>C	not provided [RCV002876673]	likely benign	1	183239354	183239354	Human		name
156366979	CV2192447	single nucleotide variant	NM_005562.3(LAMC2):c.1066+10T>C	not provided [RCV003066015]	likely benign	1	183225730	183225730	Human		name
11647235	CV278782	microsatellite	NM_005562.3(LAMC2):c.*1033AT[2]	Junctional epidermolysis bullosa [RCV000275473]	uncertain significance	1	183244433	183244434	Human		name
11580966	CV278800	single nucleotide variant	NM_005562.3(LAMC2):c.1066+12C>A	Junctional epidermolysis bullosa [RCV000350232]\|not provided [RCV001597037]	benign\|likely benign	1	183225732	183225732	Human	1	name
402501156	CV2869012	single nucleotide variant	NM_005562.3(LAMC2):c.2456+12C>T	not provided [RCV003545889]	likely benign	1	183235742	183235742	Human		name
405091197	CV2877587	single nucleotide variant	NM_005562.3(LAMC2):c.2457-11C>T	not provided [RCV003549914]	likely benign	1	183236449	183236449	Human		name
402494919	CV2887305	single nucleotide variant	NM_005562.3(LAMC2):c.2601+17T>C	not provided [RCV003573335]	benign	1	183236621	183236621	Human		name
402493306	CV2890478	single nucleotide variant	NM_005562.3(LAMC2):c.2300+18G>A	not provided [RCV003573233]	likely benign	1	183234464	183234464	Human		name
405156284	CV2890797	single nucleotide variant	NM_005562.3(LAMC2):c.1469-18T>C	not provided [RCV003562074]	benign	1	183228356	183228356	Human		name
405240562	CV2893071	single nucleotide variant	NM_005562.3(LAMC2):c.2221-14T>G	not provided [RCV003557318]	likely benign	1	183234353	183234353	Human		name
405128178	CV2893267	single nucleotide variant	NM_005562.3(LAMC2):c.3328+16A>T	not provided [RCV003559779]	likely benign	1	183240407	183240407	Human		name
405052606	CV2893632	single nucleotide variant	NM_005562.3(LAMC2):c.1468+15C>A	not provided [RCV003579897]	likely benign	1	183227712	183227712	Human		name
405052991	CV2893758	single nucleotide variant	NM_005562.3(LAMC2):c.2221-18A>G	not provided [RCV003579925]	likely benign	1	183234349	183234349	Human		name
405154109	CV2893954	single nucleotide variant	NM_005562.3(LAMC2):c.3329-17C>T	not provided [RCV003561857]	likely benign	1	183243130	183243130	Human		name
405231525	CV2895830	single nucleotide variant	NM_005562.3(LAMC2):c.2300+14G>C	not provided [RCV003555602]	likely benign	1	183234460	183234460	Human		name
402521899	CV2900039	single nucleotide variant	NM_005562.3(LAMC2):c.2457-17C>T	not provided [RCV003575922]	likely benign	1	183236443	183236443	Human		name
402522869	CV2900195	single nucleotide variant	NM_005562.3(LAMC2):c.2221-20C>T	not provided [RCV003575995]	likely benign	1	183234347	183234347	Human		name
405230187	CV2902439	single nucleotide variant	NM_005562.3(LAMC2):c.1468+19T>C	not provided [RCV003555380]	likely benign	1	183227716	183227716	Human		name
402521437	CV2902642	single nucleotide variant	NM_005562.3(LAMC2):c.1066+12C>T	not provided [RCV003575792]	likely benign	1	183225732	183225732	Human		name
405183029	CV2909665	single nucleotide variant	NM_005562.3(LAMC2):c.1857+19A>G	not provided [RCV003564115]	likely benign	1	183231122	183231122	Human		name
405014387	CV2930377	single nucleotide variant	NM_005562.3(LAMC2):c.2301-16T>A	not provided [RCV003577013]	likely benign	1	183235559	183235559	Human		name
405116425	CV2953326	single nucleotide variant	NM_005562.3(LAMC2):c.2014+14A>G	not provided [RCV003666968]	likely benign	1	183232357	183232357	Human		name
405129099	CV2957220	single nucleotide variant	NM_005562.3(LAMC2):c.3069+18T>C	not provided [RCV003672156]	likely benign	1	183239581	183239581	Human		name
405133305	CV2957757	duplication	NM_005562.3(LAMC2):c.2301-12dup	not provided [RCV003672598]	benign	1	183235558	183235559	Human		name
405132350	CV2959216	single nucleotide variant	NM_005562.3(LAMC2):c.3229-19T>G	not provided [RCV003668492]	likely benign	1	183240273	183240273	Human		name
405145885	CV2962530	single nucleotide variant	NM_005562.3(LAMC2):c.2869+11C>T	not provided [RCV003673570]	likely benign	1	183238432	183238432	Human		name
405244011	CV2971838	single nucleotide variant	NM_005562.3(LAMC2):c.1285+20G>C	not provided [RCV003684734]	likely benign	1	183226936	183226936	Human		name
402516672	CV2992117	single nucleotide variant	NM_005562.3(LAMC2):c.2601+13G>C	not provided [RCV003689923]	likely benign	1	183236617	183236617	Human		name
402493721	CV3008613	single nucleotide variant	NM_005562.3(LAMC2):c.3328+11C>T	not provided [RCV003687791]	likely benign	1	183240402	183240402	Human		name
402491751	CV3011819	single nucleotide variant	NM_005562.3(LAMC2):c.1714+14C>T	not provided [RCV003687498]	likely benign	1	183228633	183228633	Human		name
405029570	CV3012525	single nucleotide variant	NM_005562.3(LAMC2):c.1468+16T>A	not provided [RCV003695464]	likely benign	1	183227713	183227713	Human		name
404978789	CV3013149	single nucleotide variant	NM_005562.3(LAMC2):c.3070-19G>C	not provided [RCV003690853]	likely benign	1	183240021	183240021	Human		name
405158539	CV3014418	single nucleotide variant	NM_005562.3(LAMC2):c.1715-15G>A	not provided [RCV003703728]	likely benign	1	183230946	183230946	Human		name
405140874	CV3026243	single nucleotide variant	NM_005562.3(LAMC2):c.1066+20T>G	not provided [RCV003702494]	likely benign	1	183225740	183225740	Human		name
405136685	CV3028762	single nucleotide variant	NM_005562.3(LAMC2):c.2301-11A>G	not provided [RCV003702161]	likely benign	1	183235564	183235564	Human		name
405220662	CV3032084	single nucleotide variant	NM_005562.3(LAMC2):c.2015-16C>T	not provided [RCV003709854]	likely benign	1	183232636	183232636	Human		name
405234319	CV3032423	single nucleotide variant	NM_005562.3(LAMC2):c.2300+16G>C	not provided [RCV003712047]	likely benign	1	183234462	183234462	Human		name
405205225	CV3033468	single nucleotide variant	NM_005562.3(LAMC2):c.1285+16C>T	not provided [RCV003707802]	likely benign	1	183226932	183226932	Human		name
405203206	CV3036420	single nucleotide variant	NM_005562.3(LAMC2):c.2015-18T>A	not provided [RCV003707669]	likely benign	1	183232634	183232634	Human		name
405196174	CV3037685	deletion	NM_005562.3(LAMC2):c.2221-14del	not provided [RCV003706936]	likely benign	1	183234353	183234353	Human		name
405222744	CV3038816	single nucleotide variant	NM_005562.3(LAMC2):c.1469-17C>A	not provided [RCV003710212]	likely benign	1	183228357	183228357	Human		name
405226868	CV3039500	single nucleotide variant	NM_005562.3(LAMC2):c.2601+13G>A	not provided [RCV003710856]	likely benign	1	183236617	183236617	Human		name
405252810	CV3044055	single nucleotide variant	NM_005562.3(LAMC2):c.1285+17C>T	not provided [RCV003722328]	likely benign	1	183226933	183226933	Human		name
405251144	CV3049683	single nucleotide variant	NM_005562.3(LAMC2):c.3328+14C>A	not provided [RCV003721819]	likely benign	1	183240405	183240405	Human		name
405078940	CV3050248	single nucleotide variant	NM_005562.3(LAMC2):c.1714+15C>G	not provided [RCV003716982]	likely benign	1	183228634	183228634	Human		name
405250558	CV3052960	single nucleotide variant	NM_005562.3(LAMC2):c.2015-15C>T	not provided [RCV003721654]	likely benign	1	183232637	183232637	Human		name
405127557	CV3053728	single nucleotide variant	NM_005562.3(LAMC2):c.1858-12G>A	not provided [RCV003724518]	likely benign	1	183232175	183232175	Human		name
405183491	CV3057807	single nucleotide variant	NM_005562.3(LAMC2):c.2457-13C>A	not provided [RCV003729028]	likely benign	1	183236447	183236447	Human		name
405187234	CV3058829	single nucleotide variant	NM_005562.3(LAMC2):c.2457-15C>T	not provided [RCV003729338]	likely benign	1	183236445	183236445	Human		name
405210683	CV3059024	single nucleotide variant	NM_005562.3(LAMC2):c.3228+14G>A	not provided [RCV003731961]	likely benign	1	183240212	183240212	Human		name
405179301	CV3060428	single nucleotide variant	NM_005562.3(LAMC2):c.2220+13T>C	not provided [RCV003728625]	likely benign	1	183232870	183232870	Human		name
405215561	CV3066584	single nucleotide variant	NM_005562.3(LAMC2):c.1714+13C>T	not provided [RCV003732514]	likely benign	1	183228632	183228632	Human		name
405201243	CV3066743	single nucleotide variant	NM_005562.3(LAMC2):c.1468+20C>T	not provided [RCV003730719]	likely benign	1	183227717	183227717	Human		name
405154930	CV3068708	single nucleotide variant	NM_005562.3(LAMC2):c.3229-15C>A	not provided [RCV003726598]	likely benign	1	183240277	183240277	Human		name
405241727	CV3070475	single nucleotide variant	NM_005562.3(LAMC2):c.1858-15C>T	not provided [RCV003737425]	likely benign	1	183232172	183232172	Human		name
405231730	CV3070620	single nucleotide variant	NM_005562.3(LAMC2):c.1066+13G>A	not provided [RCV003734962]	likely benign	1	183225733	183225733	Human		name
405168753	CV3070973	single nucleotide variant	NM_005562.3(LAMC2):c.3069+14G>A	not provided [RCV003727570]	likely benign	1	183239577	183239577	Human		name
405234239	CV3073721	single nucleotide variant	NM_005562.3(LAMC2):c.3069+13C>T	not provided [RCV003735576]	likely benign	1	183239576	183239576	Human		name
405042860	CV3074132	single nucleotide variant	NM_005562.3(LAMC2):c.2456+19T>G	not provided [RCV003740055]	likely benign	1	183235749	183235749	Human		name
405213681	CV3078293	single nucleotide variant	NM_005562.3(LAMC2):c.2300+16G>A	not provided [RCV003732355]	likely benign	1	183234462	183234462	Human		name
405236163	CV3079697	single nucleotide variant	NM_005562.3(LAMC2):c.2221-19G>T	not provided [RCV003735940]	likely benign	1	183234348	183234348	Human		name
405208307	CV3117087	single nucleotide variant	NM_005562.3(LAMC2):c.2869+18C>T	not provided [RCV003822874]	likely benign	1	183238439	183238439	Human		name
404983348	CV3121584	single nucleotide variant	NM_005562.3(LAMC2):c.1066+12C>G	not provided [RCV003826383]	likely benign	1	183225732	183225732	Human		name
402521253	CV3126913	single nucleotide variant	NM_005562.3(LAMC2):c.2870-17T>C	not provided [RCV003824831]	likely benign	1	183239347	183239347	Human		name
405027439	CV3129758	single nucleotide variant	NM_005562.3(LAMC2):c.1066+17A>G	not provided [RCV003830356]	likely benign	1	183225737	183225737	Human		name
405141695	CV3131266	single nucleotide variant	NM_005562.3(LAMC2):c.2870-16C>A	not provided [RCV003839306]	likely benign	1	183239348	183239348	Human		name
405106010	CV3139984	single nucleotide variant	NM_005562.3(LAMC2):c.3070-20G>C	not provided [RCV003835395]	likely benign	1	183240020	183240020	Human		name
405046999	CV3141705	single nucleotide variant	NM_005562.3(LAMC2):c.1286-11C>T	not provided [RCV003831806]	likely benign	1	183227504	183227504	Human		name
405205264	CV3144212	single nucleotide variant	NM_005562.3(LAMC2):c.2456+14G>C	not provided [RCV003845002]	likely benign	1	183235744	183235744	Human		name
405193546	CV3146123	single nucleotide variant	NM_005562.3(LAMC2):c.2601+16C>A	not provided [RCV003843670]	likely benign	1	183236620	183236620	Human		name
405210599	CV3146221	single nucleotide variant	NM_005562.3(LAMC2):c.1286-19A>G	not provided [RCV003845752]	likely benign	1	183227496	183227496	Human		name
405175939	CV3148180	single nucleotide variant	NM_005562.3(LAMC2):c.2754+18C>T	not provided [RCV003858152]	likely benign	1	183237522	183237522	Human		name
405174313	CV3150539	single nucleotide variant	NM_005562.3(LAMC2):c.1468+15C>G	not provided [RCV003841813]	likely benign	1	183227712	183227712	Human		name
405248082	CV3159226	single nucleotide variant	NM_005562.3(LAMC2):c.1067-12T>C	not provided [RCV003869371]	likely benign	1	183226686	183226686	Human		name
405154234	CV3163110	single nucleotide variant	NM_005562.3(LAMC2):c.2601+20G>A	not provided [RCV003856553]	likely benign	1	183236624	183236624	Human		name
405204254	CV3165517	single nucleotide variant	NM_005562.3(LAMC2):c.2301-20T>C	not provided [RCV003861183]	likely benign	1	183235555	183235555	Human		name
405205213	CV3165645	single nucleotide variant	NM_005562.3(LAMC2):c.3328+16A>G	not provided [RCV003861311]	likely benign	1	183240407	183240407	Human		name
405082135	CV3167098	single nucleotide variant	NM_005562.3(LAMC2):c.1468+17G>A	not provided [RCV003851677]	likely benign	1	183227714	183227714	Human		name
402472914	CV3172069	single nucleotide variant	NM_005562.3(LAMC2):c.2220+16G>C	not provided [RCV003874672]	likely benign	1	183232873	183232873	Human		name
404997426	CV3172972	single nucleotide variant	NM_005562.3(LAMC2):c.2602-19G>A	not provided [RCV003882254]	likely benign	1	183237333	183237333	Human		name
405255286	CV3176121	single nucleotide variant	NM_005562.3(LAMC2):c.1468+13G>T	not provided [RCV003872205]	likely benign	1	183227710	183227710	Human		name
402496483	CV3179167	single nucleotide variant	NM_005562.3(LAMC2):c.1285+16C>A	not provided [RCV003877434]	likely benign	1	183226932	183226932	Human		name
597934191	CV3776934	single nucleotide variant	NM_005562.3(LAMC2):c.3329-11C>A	not provided [RCV005117093]	likely benign	1	183243136	183243136	Human		name
597864511	CV3823172	single nucleotide variant	NM_005562.3(LAMC2):c.2220+19A>G	not provided [RCV005175522]	likely benign	1	183232876	183232876	Human		name
28892318	CV865045	single nucleotide variant	NM_005562.3(LAMC2):c.2014+12C>A	Junctional epidermolysis bullosa [RCV001100522]\|not provided [RCV002069690]	likely benign\|uncertain significance	1	183232355	183232355	Human	1	name
28897091	CV865046	single nucleotide variant	NM_005562.3(LAMC2):c.2456+15G>A	Junctional epidermolysis bullosa [RCV001102468]\|not provided [RCV003718318]	likely benign\|uncertain significance	1	183235745	183235745	Human	1	name
150336253	CV1170638	single nucleotide variant	NM_005562.3(LAMC2):c.1469-204A>G	not provided [RCV001540910]	benign	1	183228170	183228170	Human		name
150336526	CV1170639	single nucleotide variant	NM_005562.3(LAMC2):c.3069+144T>G	not provided [RCV001541029]	benign	1	183239707	183239707	Human		name
150468978	CV1218997	single nucleotide variant	NM_005562.3(LAMC2):c.2755-336C>G	not provided [RCV001614749]	benign	1	183237971	183237971	Human		name
150482684	CV1223465	single nucleotide variant	NM_005562.3(LAMC2):c.3069+147T>C	not provided [RCV001617178]	benign	1	183239710	183239710	Human		name
150461627	CV1231500	single nucleotide variant	NM_005562.3(LAMC2):c.1714+259C>T	not provided [RCV001641067]	benign	1	183228878	183228878	Human		name
150501053	CV1238306	single nucleotide variant	NM_005562.3(LAMC2):c.3328+107A>G	not provided [RCV001656736]	benign	1	183240498	183240498	Human		name
150480872	CV1239669	single nucleotide variant	NM_005562.3(LAMC2):c.1468+219C>T	not provided [RCV001652832]	benign	1	183227916	183227916	Human		name
150482655	CV1247489	single nucleotide variant	NM_005562.3(LAMC2):c.1285+182C>A	not provided [RCV001673315]	benign	1	183227098	183227098	Human		name
150462818	CV1253716	single nucleotide variant	NM_005562.3(LAMC2):c.1066+226G>A	not provided [RCV001669758]	benign	1	183225946	183225946	Human		name
150468965	CV1259578	single nucleotide variant	NM_005562.3(LAMC2):c.1286-283C>T	not provided [RCV001683878]	benign	1	183227232	183227232	Human		name
150476227	CV1263614	single nucleotide variant	NM_005562.3(LAMC2):c.2301-233G>A	not provided [RCV001685137]	benign	1	183235342	183235342	Human		name
150440098	CV1266865	single nucleotide variant	NM_005562.3(LAMC2):c.3329-111C>A	not provided [RCV001690301]	benign	1	183243036	183243036	Human		name
150493101	CV1267077	single nucleotide variant	NM_005562.3(LAMC2):c.1285+166C>A	not provided [RCV001688104]	benign	1	183227082	183227082	Human		name
150493576	CV1267174	single nucleotide variant	NM_005562.3(LAMC2):c.2457-115C>T	not provided [RCV001688202]	benign	1	183236345	183236345	Human		name
150435957	CV1270887	single nucleotide variant	NM_005562.3(LAMC2):c.2456+139G>T	not provided [RCV001689437]	benign	1	183235869	183235869	Human		name
151235156	CV1318417	single nucleotide variant	NM_005562.3(LAMC2):c.3070-157A>G	not provided [RCV001794740]	likely benign	1	183239883	183239883	Human		name
127244543	CV1054760	deletion	NM_005562.3(LAMC2):c.504-51_550del	not provided [RCV001377271]	likely pathogenic	1	183220772	183220869	Human		name
126753178	CV1035762	deletion	NM_005562.3(LAMC2):c.404+3_404+6del	Junctional epidermolysis bullosa [RCV001352884]	pathogenic	1	183215589	183215592	Human	1	name
150436999	CV1220651	duplication	NM_005562.3(LAMC2):c.80-32_80-31dup	not provided [RCV001609635]	benign	1	183207835	183207836	Human		name
150488578	CV1237502	duplication	NM_005562.3(LAMC2):c.80-33_80-31dup	not provided [RCV001654351]	benign	1	183207835	183207836	Human		name
156059070	CV2008159	single nucleotide variant	NM_005562.3(LAMC2):c.6T>C (p.Pro2=)	not provided [RCV002705321]	likely benign	1	183186358	183186358	Human		name
156084923	CV2095042	single nucleotide variant	NM_005562.3(LAMC2):c.9G>C (p.Ala3=)	not provided [RCV002912829]	likely benign	1	183186361	183186361	Human		name
15114229	CV761364	single nucleotide variant	NM_005562.3(LAMC2):c.9G>T (p.Ala3=)	not provided [RCV000939280]	likely benign	1	183186361	183186361	Human		name
127256370	CV1088210	single nucleotide variant	NM_005562.3(LAMC2):c.21C>T (p.Gly7=)	not provided [RCV001426799]	likely benign	1	183186373	183186373	Human		name
405130461	CV3011011	single nucleotide variant	NM_005562.3(LAMC2):c.21C>G (p.Gly7=)	not provided [RCV003701651]	likely benign	1	183186373	183186373	Human		name
127283821	CV1066488	single nucleotide variant	NM_005562.3(LAMC2):c.81C>A (p.Val27=)	not provided [RCV001412033]	likely benign	1	183207882	183207882	Human		name
127256160	CV1066489	single nucleotide variant	NM_005562.3(LAMC2):c.96G>A (p.Gly32=)	not provided [RCV001401201]	likely benign	1	183207897	183207897	Human		name
127258268	CV1088211	single nucleotide variant	NM_005562.3(LAMC2):c.39G>C (p.Ser13=)	not provided [RCV001427281]	likely benign	1	183186391	183186391	Human		name
127261091	CV1088212	single nucleotide variant	NM_005562.3(LAMC2):c.87T>C (p.Asp29=)	not provided [RCV001438733]	likely benign	1	183207888	183207888	Human		name
127300655	CV1109728	single nucleotide variant	NM_005562.3(LAMC2):c.51C>T (p.Pro17=)	not provided [RCV001461146]	likely benign	1	183186403	183186403	Human		name
127315913	CV1130625	single nucleotide variant	NM_005562.3(LAMC2):c.30C>T (p.Leu10=)	not provided [RCV001482630]	likely benign	1	183186382	183186382	Human		name
152047888	CV1549505	single nucleotide variant	NM_005562.3(LAMC2):c.60G>A (p.Arg20=)	not provided [RCV002166485]	likely benign	1	183186412	183186412	Human		name
152157055	CV1586084	deletion	NM_005562.3(LAMC2):c.2755-7_2755-5del	not provided [RCV002140286]	likely benign	1	183238298	183238300	Human		name
152160852	CV1598799	single nucleotide variant	NM_005562.3(LAMC2):c.75G>A (p.Arg25=)	not provided [RCV002140895]	likely benign	1	183186427	183186427	Human		name
156404205	CV1886598	single nucleotide variant	NM_005562.3(LAMC2):c.36C>T (p.Phe12=)	not provided [RCV003069652]	likely benign	1	183186388	183186388	Human		name
156338099	CV1902389	single nucleotide variant	NM_005562.3(LAMC2):c.39G>T (p.Ser13=)	not provided [RCV003090192]	likely benign	1	183186391	183186391	Human		name
156312385	CV2087480	deletion	NM_005562.3(LAMC2):c.1715-9_1715-3del	not provided [RCV002857741]	likely benign	1	183230951	183230957	Human		name
156031978	CV2093611	single nucleotide variant	NM_005562.3(LAMC2):c.66C>T (p.Thr22=)	not provided [RCV002885439]	likely benign	1	183186418	183186418	Human		name
155946457	CV2139480	single nucleotide variant	NM_005562.3(LAMC2):c.78A>G (p.Glu26=)	not provided [RCV002994372]	uncertain significance	1	183186430	183186430	Human		name
11648053	CV277781	single nucleotide variant	NM_005562.3(LAMC2):c.1A>G (p.Met1Val)	Epidermolysis bullosa, junctional 3A, intermediate [RCV005008264]\|Junctional epidermolysis bullosa [RCV000280030]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV000675150]	likely pathogenic\|uncertain significance	1	183186353	183186353	Human	3	name
11580714	CV277785	single nucleotide variant	NM_005562.3(LAMC2):c.69C>T (p.Ser23=)	Junctional epidermolysis bullosa [RCV000342103]\|not provided [RCV000978385]	likely benign\|uncertain significance	1	183186421	183186421	Human	1	name
405190099	CV2924648	single nucleotide variant	NM_005562.3(LAMC2):c.42C>G (p.Leu14=)	not provided [RCV003564825]	likely benign	1	183186394	183186394	Human		name
405045069	CV3141593	microsatellite	NM_005562.3(LAMC2):c.764-11_764-10del	not provided [RCV003831694]	likely benign	1	183223122	183223123	Human		name
405200135	CV3164546	deletion	NM_005562.3(LAMC2):c.1715-8_1715-7del	not provided [RCV003860603]	likely benign	1	183230952	183230953	Human		name
405212126	CV3173503	single nucleotide variant	NM_005562.3(LAMC2):c.30C>G (p.Leu10=)	not provided [RCV003862252]	likely benign	1	183186382	183186382	Human		name
407476296	CV3494815	deletion	NM_005562.3(LAMC2):c.2754+3_2754+4del	not specified [RCV004690716]	uncertain significance	1	183237506	183237507	Human		name
597703958	CV3714093	deletion	NM_005562.3(LAMC2):c.2220+1_2220+2del	Epidermolysis bullosa, junctional 3A, intermediate [RCV005009053]	likely pathogenic	1	183232857	183232858	Human	1	name
13509218	CV481572	single nucleotide variant	NM_005562.3(LAMC2):c.2T>C (p.Met1Thr)	not provided [RCV000579075]	pathogenic	1	183186354	183186354	Human		name
13787882	CV540726	single nucleotide variant	NM_005562.3(LAMC2):c.3G>T (p.Met1Ile)	Junctional epidermolysis bullosa gravis of Herlitz [RCV000665081]	likely pathogenic	1	183186355	183186355	Human	1	name
13788287	CV540767	microsatellite	NM_005562.3(LAMC2):c.3328+8AACCCAC[3]	Junctional epidermolysis bullosa gravis of Herlitz [RCV000665291]\|not provided [RCV002066974]	likely benign	1	183240398	183240399	Human		name
15147068	CV761365	single nucleotide variant	NM_005562.3(LAMC2):c.72G>A (p.Arg24=)	not provided [RCV000944850]	likely benign	1	183186424	183186424	Human		name
15105840	CV780387	single nucleotide variant	NM_005562.3(LAMC2):c.48G>C (p.Leu16=)	not provided [RCV000976519]	benign	1	183186400	183186400	Human		name
28881444	CV862910	single nucleotide variant	NM_005562.3(LAMC2):c.48G>T (p.Leu16=)	Junctional epidermolysis bullosa [RCV001096859]\|not provided [RCV002069632]	likely benign\|uncertain significance	1	183186400	183186400	Human	1	name
127249114	CV1066490	single nucleotide variant	NM_005562.3(LAMC2):c.135A>G (p.Arg45=)	not provided [RCV001399536]	likely benign	1	183207936	183207936	Human		name
127274605	CV1088213	single nucleotide variant	NM_005562.3(LAMC2):c.123G>A (p.Arg41=)	not provided [RCV001442915]	likely benign	1	183207924	183207924	Human		name
127250089	CV1088214	single nucleotide variant	NM_005562.3(LAMC2):c.273T>C (p.Ser91=)	not provided [RCV001425317]	likely benign	1	183215457	183215457	Human		name
127335683	CV1109730	single nucleotide variant	NM_005562.3(LAMC2):c.222G>T (p.Arg74=)	not provided [RCV001474433]	likely benign	1	183208023	183208023	Human		name
127313398	CV1130626	single nucleotide variant	NM_005562.3(LAMC2):c.222G>A (p.Arg74=)	not provided [RCV001481983]	likely benign	1	183208023	183208023	Human		name
152098824	CV1595479	single nucleotide variant	NM_005562.3(LAMC2):c.171T>C (p.Asn57=)	not provided [RCV002213730]	likely benign	1	183207972	183207972	Human		name
152066632	CV1636580	single nucleotide variant	NM_005562.3(LAMC2):c.180T>C (p.Thr60=)	not provided [RCV002110880]	likely benign	1	183207981	183207981	Human		name
152077947	CV1665966	single nucleotide variant	NM_005562.3(LAMC2):c.273T>G (p.Ser91=)	not provided [RCV002092476]	likely benign	1	183215457	183215457	Human		name
155934351	CV2061030	single nucleotide variant	NM_005562.3(LAMC2):c.201G>A (p.Lys67=)	not provided [RCV002815260]	likely benign	1	183208002	183208002	Human		name
156075486	CV2165519	single nucleotide variant	NM_005562.3(LAMC2):c.291C>T (p.Asp97=)	not provided [RCV003037703]	likely benign	1	183215475	183215475	Human		name
156114627	CV2173857	single nucleotide variant	NM_005562.3(LAMC2):c.114C>A (p.Ile38=)	not provided [RCV003055223]	likely benign	1	183207915	183207915	Human		name
243059064	CV2412387	single nucleotide variant	NM_005562.3(LAMC2):c.14G>A (p.Trp5Ter)	not provided [RCV003146929]	likely pathogenic	1	183186366	183186366	Human		name
11552017	CV249574	single nucleotide variant	NM_005562.3(LAMC2):c.297C>T (p.Ser99=)	Junctional epidermolysis bullosa [RCV000310410]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV001537698]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV001537699]\|not provided [RCV001521603]\|not specified [RCV000253816]	benign	1	183215481	183215481	Human	3	name
402476877	CV2857429	single nucleotide variant	NM_005562.3(LAMC2):c.147T>C (p.Asn49=)	not provided [RCV003543522]	likely benign	1	183207948	183207948	Human		name
405048943	CV2886854	deletion	NM_005562.3(LAMC2):c.1286-11_1286-9del	not provided [RCV003579650]	benign	1	183227502	183227504	Human		name
405221162	CV2969702	single nucleotide variant	NM_005562.3(LAMC2):c.126A>G (p.Glu42=)	not provided [RCV003680586]	likely benign	1	183207927	183207927	Human		name
405117233	CV2992957	single nucleotide variant	NM_005562.3(LAMC2):c.249C>T (p.Pro83=)	not provided [RCV003723492]	likely benign	1	183208050	183208050	Human		name
405137977	CV3029463	single nucleotide variant	NM_005562.3(LAMC2):c.264C>A (p.Ser88=)	not provided [RCV003702262]	likely benign	1	183208065	183208065	Human		name
405814789	CV3287388	single nucleotide variant	NM_005562.3(LAMC2):c.19G>A (p.Gly7Ser)	Inborn genetic diseases [RCV004410017]	likely benign	1	183186371	183186371	Human	1	name
597965451	CV3823511	single nucleotide variant	NM_005562.3(LAMC2):c.153C>T (p.Phe51=)	not provided [RCV005164931]	likely benign	1	183207954	183207954	Human		name
15123413	CV761366	single nucleotide variant	NM_005562.3(LAMC2):c.255T>C (p.Asn85=)	not provided [RCV000940851]	likely benign	1	183208056	183208056	Human		name
127269999	CV1066491	single nucleotide variant	NM_005562.3(LAMC2):c.555C>T (p.Thr185=)	not provided [RCV001404861]	likely benign	1	183220876	183220876	Human		name
127237491	CV1066492	single nucleotide variant	NM_005562.3(LAMC2):c.729C>T (p.Ala243=)	not provided [RCV001392323]	likely benign	1	183222177	183222177	Human		name
127243009	CV1066493	single nucleotide variant	NM_005562.3(LAMC2):c.840A>G (p.Arg280=)	not provided [RCV001398278]	likely benign	1	183223211	183223211	Human		name
127246442	CV1066494	single nucleotide variant	NM_005562.3(LAMC2):c.933C>T (p.Leu311=)	not provided [RCV001416744]	likely benign	1	183223304	183223304	Human		name
127253941	CV1088215	single nucleotide variant	NM_005562.3(LAMC2):c.495C>T (p.Arg165=)	not provided [RCV001426200]	likely benign	1	183218480	183218480	Human		name
127266457	CV1088216	single nucleotide variant	NM_005562.3(LAMC2):c.858T>C (p.Asp286=)	not provided [RCV001429398]	likely benign	1	183223229	183223229	Human		name
127295453	CV1109731	single nucleotide variant	NM_005562.3(LAMC2):c.400C>T (p.Leu134=)	not provided [RCV001459742]	likely benign	1	183215584	183215584	Human		name
127325824	CV1109732	single nucleotide variant	NM_005562.3(LAMC2):c.426C>T (p.Asp142=)	not provided [RCV001468611]	likely benign	1	183218411	183218411	Human		name
127295041	CV1109733	single nucleotide variant	NM_005562.3(LAMC2):c.843C>T (p.His281=)	not provided [RCV001459642]	likely benign	1	183223214	183223214	Human		name
127336449	CV1109734	single nucleotide variant	NM_005562.3(LAMC2):c.918A>G (p.Thr306=)	not provided [RCV001474949]	likely benign	1	183223289	183223289	Human		name
127300618	CV1109735	single nucleotide variant	NM_005562.3(LAMC2):c.919C>T (p.Leu307=)	not provided [RCV001461138]	likely benign	1	183223290	183223290	Human		name
127313810	CV1109736	single nucleotide variant	NM_005562.3(LAMC2):c.978T>C (p.Asn326=)	not provided [RCV001457546]	likely benign	1	183225632	183225632	Human		name
127308773	CV1130627	single nucleotide variant	NM_005562.3(LAMC2):c.369C>T (p.Leu123=)	not provided [RCV001500864]	likely benign	1	183215553	183215553	Human		name
127323721	CV1130629	single nucleotide variant	NM_005562.3(LAMC2):c.447C>T (p.Pro149=)	not provided [RCV001485306]	likely benign	1	183218432	183218432	Human		name
127306919	CV1130630	single nucleotide variant	NM_005562.3(LAMC2):c.714T>C (p.Asp238=)	not provided [RCV001500347]	likely benign	1	183222162	183222162	Human		name
127312357	CV1130632	single nucleotide variant	NM_005562.3(LAMC2):c.768A>G (p.Lys256=)	not provided [RCV001501905]	likely benign	1	183223139	183223139	Human		name
127312454	CV1130633	single nucleotide variant	NM_005562.3(LAMC2):c.786G>A (p.Gln262=)	not provided [RCV001481685]	likely benign	1	183223157	183223157	Human		name
127316915	CV1130634	single nucleotide variant	NM_005562.3(LAMC2):c.846A>G (p.Pro282=)	not provided [RCV001503191]	likely benign	1	183223217	183223217	Human		name
127312370	CV1130635	single nucleotide variant	NM_005562.3(LAMC2):c.933C>A (p.Leu311=)	not provided [RCV001501909]	likely benign	1	183223304	183223304	Human		name
127327093	CV1130636	single nucleotide variant	NM_005562.3(LAMC2):c.987C>G (p.Pro329=)	not provided [RCV001506464]	likely benign	1	183225641	183225641	Human		name
127292579	CV1130641	deletion	NM_005562.3(LAMC2):c.1468+10_1468+25del	not provided [RCV001496520]	likely benign	1	183227703	183227718	Human		name
127300475	CV1153379	single nucleotide variant	NM_005562.3(LAMC2):c.955T>C (p.Leu319=)	not provided [RCV001514185]	benign	1	183225609	183225609	Human		name
150468659	CV1267966	deletion	NM_005562.3(LAMC2):c.2457-55_2457-54del	not provided [RCV001694829]	benign	1	183236389	183236390	Human		name
152174691	CV1520386	single nucleotide variant	NM_005562.3(LAMC2):c.897C>T (p.Pro299=)	not provided [RCV002184599]	likely benign	1	183223268	183223268	Human		name
152169845	CV1538741	single nucleotide variant	NM_005562.3(LAMC2):c.591C>T (p.Arg197=)	not provided [RCV002182944]	likely benign	1	183220912	183220912	Human		name
152155666	CV1547742	single nucleotide variant	NM_005562.3(LAMC2):c.678T>C (p.Ser226=)	not provided [RCV002158804]	likely benign	1	183222126	183222126	Human		name
152032203	CV1548947	single nucleotide variant	NM_005562.3(LAMC2):c.612C>G (p.Val204=)	not provided [RCV002086531]	likely benign	1	183220933	183220933	Human		name
152034019	CV1573221	single nucleotide variant	NM_005562.3(LAMC2):c.855T>C (p.His285=)	not provided [RCV002187190]	likely benign	1	183223226	183223226	Human		name
152112466	CV1586306	single nucleotide variant	NM_005562.3(LAMC2):c.717G>A (p.Val239=)	not provided [RCV002196962]	likely benign	1	183222165	183222165	Human		name
152159759	CV1589948	single nucleotide variant	NM_005562.3(LAMC2):c.624C>T (p.Thr208=)	not provided [RCV002203228]	likely benign	1	183220945	183220945	Human		name
152092268	CV1593072	single nucleotide variant	NM_005562.3(LAMC2):c.846A>T (p.Pro282=)	not provided [RCV002094351]	likely benign	1	183223217	183223217	Human		name
152118590	CV1593509	single nucleotide variant	NM_005562.3(LAMC2):c.582C>T (p.Ala194=)	not provided [RCV002097836]	likely benign	1	183220903	183220903	Human		name
152039452	CV1617149	single nucleotide variant	NM_005562.3(LAMC2):c.579A>G (p.Ser193=)	not provided [RCV002087738]	likely benign	1	183220900	183220900	Human		name
152043694	CV1621913	single nucleotide variant	NM_005562.3(LAMC2):c.579A>T (p.Ser193=)	not provided [RCV002108084]	likely benign	1	183220900	183220900	Human		name
152168966	CV1626444	single nucleotide variant	NM_005562.3(LAMC2):c.810C>T (p.Ser270=)	not provided [RCV002182628]	likely benign	1	183223181	183223181	Human		name
152157849	CV1639401	single nucleotide variant	NM_005562.3(LAMC2):c.657G>A (p.Lys219=)	not provided [RCV002180391]	likely benign	1	183222105	183222105	Human		name
152154003	CV1643559	single nucleotide variant	NM_005562.3(LAMC2):c.621C>T (p.Ile207=)	not provided [RCV002122157]	likely benign	1	183220942	183220942	Human		name
155729704	CV1784459	deletion	NM_005562.3(LAMC2):c.176del (p.Asn59fs)	Junctional epidermolysis bullosa gravis of Herlitz [RCV002308407]	likely pathogenic	1	183207976	183207976	Human	1	name
156358099	CV1891304	single nucleotide variant	NM_005562.3(LAMC2):c.570T>C (p.Tyr190=)	not provided [RCV003091504]	likely benign	1	183220891	183220891	Human		name
156444670	CV1948397	single nucleotide variant	NM_005562.3(LAMC2):c.837C>T (p.Gly279=)	not provided [RCV003115595]	likely benign	1	183223208	183223208	Human		name
156186601	CV1997814	single nucleotide variant	NM_005562.3(LAMC2):c.741C>T (p.Asp247=)	not provided [RCV002643186]	likely benign	1	183222189	183222189	Human		name
156175730	CV2010351	single nucleotide variant	NM_005562.3(LAMC2):c.930G>A (p.Gly310=)	not provided [RCV002710622]	likely benign	1	183223301	183223301	Human		name
156022970	CV2019470	single nucleotide variant	NM_005562.3(LAMC2):c.630C>A (p.Thr210=)	not provided [RCV002691090]	likely benign	1	183220951	183220951	Human		name
156023865	CV2025580	single nucleotide variant	NM_005562.3(LAMC2):c.301C>A (p.Arg101=)	not provided [RCV002735502]	likely benign	1	183215485	183215485	Human		name
156202042	CV2034778	single nucleotide variant	NM_005562.3(LAMC2):c.693A>G (p.Gln231=)	not provided [RCV002766275]	likely benign	1	183222141	183222141	Human		name
155957900	CV2078462	single nucleotide variant	NM_005562.3(LAMC2):c.588C>T (p.Cys196=)	not provided [RCV002880869]	likely benign	1	183220909	183220909	Human		name
155932436	CV2096156	single nucleotide variant	NM_005562.3(LAMC2):c.726A>G (p.Ser242=)	not provided [RCV002903904]	likely benign	1	183222174	183222174	Human		name
155969800	CV2152481	single nucleotide variant	NM_005562.3(LAMC2):c.534G>A (p.Gly178=)	not provided [RCV003015880]	likely benign	1	183220855	183220855	Human		name
156238200	CV2183844	single nucleotide variant	NM_005562.3(LAMC2):c.381G>A (p.Gly127=)	not provided [RCV003059562]	likely benign	1	183215565	183215565	Human		name
156113333	CV2261346	single nucleotide variant	NM_005562.3(LAMC2):c.58C>T (p.Arg20Trp)	Inborn genetic diseases [RCV002799877]	uncertain significance	1	183186410	183186410	Human	1	name
11549713	CV249575	single nucleotide variant	NM_005562.3(LAMC2):c.483C>T (p.Val161=)	Junctional epidermolysis bullosa [RCV000274277]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV001537732]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV001537733]\|not provided [RCV001521604]\|not specified [RCV000250771]	benign	1	183218468	183218468	Human	3	name
11543664	CV249576	single nucleotide variant	NM_005562.3(LAMC2):c.798T>G (p.Gly266=)	Junctional epidermolysis bullosa [RCV000320325]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV001537736]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV001537737]\|not provided [RCV001521605]\|not specified [RCV000242761]	benign	1	183223169	183223169	Human	4	name
11543664	CV249576	single nucleotide variant	NM_005562.3(LAMC2):c.798T>G (p.Gly266=)	Junctional epidermolysis bullosa [RCV000320325]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV001537736]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV001537737]\|not provided [RCV001521605]\|not specified [RCV000242761]	benign	1	183223169	183223170	Human	4	name
11581607	CV274811	single nucleotide variant	NM_005562.3(LAMC2):c.880C>T (p.Leu294=)	Junctional epidermolysis bullosa [RCV000377320]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV001526767]\|not provided [RCV000958515]\|not specified [RCV000332333]	benign\|likely benign\|uncertain significance	1	183223251	183223251	Human	2	name
401892732	CV2791736	single nucleotide variant	NM_005562.3(LAMC2):c.74G>A (p.Arg25Lys)	Inborn genetic diseases [RCV003370316]	uncertain significance	1	183186426	183186426	Human	1	name
405088398	CV2862545	single nucleotide variant	NM_005562.3(LAMC2):c.865C>T (p.Leu289=)	not provided [RCV003549727]	likely benign	1	183223236	183223236	Human		name
402516515	CV2874488	single nucleotide variant	NM_005562.3(LAMC2):c.303G>C (p.Arg101=)	not provided [RCV003547441]	likely benign	1	183215487	183215487	Human		name
405155660	CV2890676	single nucleotide variant	NM_005562.3(LAMC2):c.92A>G (p.Asn31Ser)	not provided [RCV003562029]	uncertain significance	1	183207893	183207893	Human		name
405242007	CV2901620	single nucleotide variant	NM_005562.3(LAMC2):c.921G>C (p.Leu307=)	not provided [RCV003557592]	likely benign	1	183223292	183223292	Human		name
405171364	CV2911939	single nucleotide variant	NM_005562.3(LAMC2):c.924T>C (p.Pro308=)	not provided [RCV003563070]	likely benign	1	183223295	183223295	Human		name
405213868	CV2925012	single nucleotide variant	NM_005562.3(LAMC2):c.759T>C (p.Ala253=)	not provided [RCV003567532]	likely benign	1	183222207	183222207	Human		name
405014999	CV2930224	single nucleotide variant	NM_005562.3(LAMC2):c.573G>A (p.Gly191=)	not provided [RCV003576936]	likely benign	1	183220894	183220894	Human		name
405085936	CV2943178	single nucleotide variant	NM_005562.3(LAMC2):c.873T>C (p.Gly291=)	not provided [RCV003664950]	likely benign	1	183223244	183223244	Human		name
405130177	CV2953514	single nucleotide variant	NM_005562.3(LAMC2):c.540C>T (p.Asn180=)	not provided [RCV003672267]	likely benign	1	183220861	183220861	Human		name
405221461	CV2966182	single nucleotide variant	NM_005562.3(LAMC2):c.402G>C (p.Leu134=)	not provided [RCV003680752]	likely benign	1	183215586	183215586	Human		name
405242282	CV2967219	single nucleotide variant	NM_005562.3(LAMC2):c.948A>G (p.Thr316=)	not provided [RCV003684314]	likely benign	1	183223319	183223319	Human		name
405222355	CV2976283	single nucleotide variant	NM_005562.3(LAMC2):c.531T>C (p.Asp177=)	not provided [RCV003680885]	likely benign	1	183220852	183220852	Human		name
405214262	CV2981358	single nucleotide variant	NM_005562.3(LAMC2):c.567C>T (p.Cys189=)	not provided [RCV003709105]	likely benign	1	183220888	183220888	Human		name
405212986	CV2984259	single nucleotide variant	NM_005562.3(LAMC2):c.732A>G (p.Gln244=)	not provided [RCV003708956]	likely benign	1	183222180	183222180	Human		name
405118787	CV2997544	single nucleotide variant	NM_005562.3(LAMC2):c.408C>T (p.Asp136=)	not provided [RCV003723649]	likely benign	1	183218393	183218393	Human		name
402520248	CV3000317	single nucleotide variant	NM_005562.3(LAMC2):c.537G>A (p.Gly179=)	not provided [RCV003716373]	likely benign	1	183220858	183220858	Human		name
402496059	CV3005808	single nucleotide variant	NM_005562.3(LAMC2):c.672T>C (p.Asn224=)	not provided [RCV003688022]	likely benign	1	183222120	183222120	Human		name
402521641	CV3011233	duplication	NM_005562.3(LAMC2):c.1067-14_1067-12dup	not provided [RCV003716476]	likely benign	1	183226682	183226683	Human		name
405158445	CV3024807	single nucleotide variant	NM_005562.3(LAMC2):c.456G>T (p.Ala152=)	not provided [RCV003703793]	likely benign	1	183218441	183218441	Human		name
405125914	CV3053407	single nucleotide variant	NM_005562.3(LAMC2):c.891A>G (p.Thr297=)	not provided [RCV003724369]	likely benign	1	183223262	183223262	Human		name
405241063	CV3061019	single nucleotide variant	NM_005562.3(LAMC2):c.486T>C (p.Thr162=)	not provided [RCV003737268]	likely benign	1	183218471	183218471	Human		name
405204024	CV3144050	single nucleotide variant	NM_005562.3(LAMC2):c.384C>T (p.Cys128=)	not provided [RCV003844840]	likely benign	1	183215568	183215568	Human		name
405200206	CV3147194	single nucleotide variant	NM_005562.3(LAMC2):c.573G>C (p.Gly191=)	not provided [RCV003844354]	likely benign	1	183220894	183220894	Human		name
405200802	CV3164907	single nucleotide variant	NM_005562.3(LAMC2):c.813T>C (p.Phe271=)	not provided [RCV003860768]	likely benign	1	183223184	183223184	Human		name
405242333	CV3173198	single nucleotide variant	NM_005562.3(LAMC2):c.456G>C (p.Ala152=)	not provided [RCV003867483]	likely benign	1	183218441	183218441	Human		name
597703376	CV3714029	deletion	NM_005562.3(LAMC2):c.284del (p.Arg95fs)	Epidermolysis bullosa, junctional 3A, intermediate [RCV005008998]	likely pathogenic	1	183215468	183215468	Human	1	name
13792339	CV540737	microsatellite	NM_005562.3(LAMC2):c.3328+19_3328+25del	Junctional epidermolysis bullosa gravis of Herlitz [RCV000668589]	likely benign	1	183240399	183240405	Human		name
15191930	CV761367	single nucleotide variant	NM_005562.3(LAMC2):c.363C>T (p.His121=)	not provided [RCV000932940]	likely benign	1	183215547	183215547	Human		name
15145012	CV761368	single nucleotide variant	NM_005562.3(LAMC2):c.438C>T (p.Ile146=)	not provided [RCV000944511]	likely benign	1	183218423	183218423	Human		name
15173318	CV761369	single nucleotide variant	NM_005562.3(LAMC2):c.453C>T (p.Asp151=)	not provided [RCV000928300]	likely benign	1	183218438	183218438	Human		name
15188493	CV761370	single nucleotide variant	NM_005562.3(LAMC2):c.573G>T (p.Gly191=)	not provided [RCV000931964]	likely benign	1	183220894	183220894	Human		name
15129476	CV780388	single nucleotide variant	NM_005562.3(LAMC2):c.675G>A (p.Gly225=)	not provided [RCV000980884]	likely benign	1	183222123	183222123	Human		name
15107294	CV780389	single nucleotide variant	NM_005562.3(LAMC2):c.999C>T (p.Tyr333=)	not provided [RCV000976798]	likely benign	1	183225653	183225653	Human		name
28881449	CV862911	single nucleotide variant	NM_005562.3(LAMC2):c.80T>C (p.Val27Ala)	Junctional epidermolysis bullosa [RCV001096860]	uncertain significance	1	183207881	183207881	Human	1	name
28896855	CV862914	single nucleotide variant	NM_005562.3(LAMC2):c.795T>C (p.Tyr265=)	Junctional epidermolysis bullosa [RCV001102370]\|not provided [RCV001517076]	benign\|likely benign\|uncertain significance	1	183223166	183223166	Human	1	name
127263934	CV1058486	single nucleotide variant	NM_005562.3(LAMC2):c.136C>T (p.Gln46Ter)	Epidermolysis bullosa, junctional 3B, severe [RCV003987858]\|not provided [RCV001388079]	pathogenic	1	183207937	183207937	Human	1	name
127256338	CV1066496	single nucleotide variant	NM_005562.3(LAMC2):c.1122C>T (p.Ala374=)	not provided [RCV001401233]	likely benign	1	183226753	183226753	Human		name
127260229	CV1066497	single nucleotide variant	NM_005562.3(LAMC2):c.1317C>T (p.Asp439=)	not provided [RCV001420004]	likely benign	1	183227546	183227546	Human		name
127256184	CV1066498	single nucleotide variant	NM_005562.3(LAMC2):c.1398C>T (p.Asn466=)	not provided [RCV001401206]	likely benign	1	183227627	183227627	Human		name
127237434	CV1066499	single nucleotide variant	NM_005562.3(LAMC2):c.1416G>A (p.Val472=)	not provided [RCV001397119]	likely benign	1	183227645	183227645	Human		name
127232316	CV1066500	single nucleotide variant	NM_005562.3(LAMC2):c.1440G>A (p.Val480=)	not provided [RCV001413392]	likely benign	1	183227669	183227669	Human		name
127258907	CV1066501	single nucleotide variant	NM_005562.3(LAMC2):c.1458C>G (p.Pro486=)	not provided [RCV001419645]	likely benign	1	183227687	183227687	Human		name
127271258	CV1066502	single nucleotide variant	NM_005562.3(LAMC2):c.1482G>A (p.Glu494=)	not provided [RCV001405292]	likely benign	1	183228387	183228387	Human		name
127238235	CV1066504	single nucleotide variant	NM_005562.3(LAMC2):c.1923T>C (p.Asp641=)	not provided [RCV001397286]	likely benign	1	183232252	183232252	Human		name
127280991	CV1066505	single nucleotide variant	NM_005562.3(LAMC2):c.1935T>G (p.Pro645=)	not provided [RCV001410159]	likely benign	1	183232264	183232264	Human		name
127232825	CV1066506	single nucleotide variant	NM_005562.3(LAMC2):c.2001C>T (p.Ala667=)	not provided [RCV001413643]	likely benign	1	183232330	183232330	Human		name
127278973	CV1066507	single nucleotide variant	NM_005562.3(LAMC2):c.2088T>C (p.Asp696=)	not provided [RCV001408832]	likely benign	1	183232725	183232725	Human		name
127278471	CV1066508	single nucleotide variant	NM_005562.3(LAMC2):c.2106G>A (p.Val702=)	not provided [RCV001408486]	likely benign	1	183232743	183232743	Human		name
127280888	CV1066509	single nucleotide variant	NM_005562.3(LAMC2):c.2136C>T (p.Tyr712=)	not provided [RCV001410101]	likely benign	1	183232773	183232773	Human		name
127272253	CV1066510	single nucleotide variant	NM_005562.3(LAMC2):c.2259C>T (p.Gly753=)	not provided [RCV001405667]	likely benign	1	183234405	183234405	Human		name
127234313	CV1066511	single nucleotide variant	NM_005562.3(LAMC2):c.2391G>A (p.Leu797=)	not provided [RCV001396408]	likely benign	1	183235665	183235665	Human		name
127268155	CV1066512	single nucleotide variant	NM_005562.3(LAMC2):c.2421C>T (p.Ser807=)	not provided [RCV001404327]\|not specified [RCV002222708]	likely benign	1	183235695	183235695	Human		name
127263488	CV1066513	single nucleotide variant	NM_005562.3(LAMC2):c.2613A>C (p.Ala871=)	not provided [RCV001403017]	likely benign	1	183237363	183237363	Human		name
127281790	CV1066514	single nucleotide variant	NM_005562.3(LAMC2):c.2787T>C (p.Leu929=)	not provided [RCV001410692]	likely benign	1	183238339	183238339	Human		name
127236125	CV1066515	single nucleotide variant	NM_005562.3(LAMC2):c.2853C>T (p.Ile951=)	not provided [RCV001392021]	likely benign	1	183238405	183238405	Human		name
127268238	CV1066516	single nucleotide variant	NM_005562.3(LAMC2):c.2877C>T (p.Asp959=)	not provided [RCV001404345]	likely benign	1	183239371	183239371	Human		name
127260166	CV1066517	single nucleotide variant	NM_005562.3(LAMC2):c.2886G>T (p.Val962=)	not provided [RCV001419991]	likely benign	1	183239380	183239380	Human		name
127243247	CV1088217	single nucleotide variant	NM_005562.3(LAMC2):c.1029C>T (p.Leu343=)	not provided [RCV001423926]	likely benign	1	183225683	183225683	Human		name
127266981	CV1088219	single nucleotide variant	NM_005562.3(LAMC2):c.1101A>G (p.Ser367=)	not provided [RCV001440417]	likely benign	1	183226732	183226732	Human		name
127235240	CV1088220	single nucleotide variant	NM_005562.3(LAMC2):c.1164C>T (p.Tyr388=)	not provided [RCV001422233]	likely benign	1	183226795	183226795	Human		name
127245854	CV1088221	single nucleotide variant	NM_005562.3(LAMC2):c.1197C>T (p.Gly399=)	not provided [RCV001435286]	likely benign	1	183226828	183226828	Human		name
127270763	CV1088222	single nucleotide variant	NM_005562.3(LAMC2):c.1221G>C (p.Leu407=)	not provided [RCV001441555]	likely benign	1	183226852	183226852	Human		name
127269170	CV1088223	single nucleotide variant	NM_005562.3(LAMC2):c.1227T>C (p.Pro409=)	not provided [RCV001440997]	likely benign	1	183226858	183226858	Human		name
127246460	CV1088224	single nucleotide variant	NM_005562.3(LAMC2):c.1329T>C (p.Ala443=)	not provided [RCV001424519]	likely benign	1	183227558	183227558	Human		name
127236275	CV1088225	single nucleotide variant	NM_005562.3(LAMC2):c.1359G>T (p.Pro453=)	not provided [RCV001433310]	likely benign	1	183227588	183227588	Human		name
127278280	CV1088226	single nucleotide variant	NM_005562.3(LAMC2):c.1431G>A (p.Glu477=)	not provided [RCV001444979]	likely benign	1	183227660	183227660	Human		name
127246897	CV1088227	single nucleotide variant	NM_005562.3(LAMC2):c.1458C>T (p.Pro486=)	not provided [RCV001435538]	likely benign	1	183227687	183227687	Human		name
127269002	CV1088229	single nucleotide variant	NM_005562.3(LAMC2):c.1821C>T (p.Phe607=)	not provided [RCV001430173]	likely benign	1	183231067	183231067	Human		name
127248504	CV1088230	single nucleotide variant	NM_005562.3(LAMC2):c.1827T>C (p.Cys609=)	not provided [RCV001424940]	likely benign	1	183231073	183231073	Human		name
127261868	CV1088232	single nucleotide variant	NM_005562.3(LAMC2):c.2277G>A (p.Gln759=)	not provided [RCV001438822]	likely benign	1	183234423	183234423	Human		name
127248175	CV1088233	single nucleotide variant	NM_005562.3(LAMC2):c.2307T>C (p.Val769=)	not provided [RCV001435754]	likely benign	1	183235581	183235581	Human		name
127278447	CV1088234	single nucleotide variant	NM_005562.3(LAMC2):c.2313A>G (p.Ser771=)	not provided [RCV001445079]	likely benign	1	183235587	183235587	Human		name
127279277	CV1088235	single nucleotide variant	NM_005562.3(LAMC2):c.2430T>G (p.Gly810=)	not provided [RCV001445626]	likely benign	1	183235704	183235704	Human		name
127279796	CV1088236	single nucleotide variant	NM_005562.3(LAMC2):c.2436G>A (p.Val812=)	not provided [RCV001445997]	likely benign	1	183235710	183235710	Human		name
127251188	CV1088237	single nucleotide variant	NM_005562.3(LAMC2):c.2436G>C (p.Val812=)	not provided [RCV001436518]	likely benign	1	183235710	183235710	Human		name
127271014	CV1088238	single nucleotide variant	NM_005562.3(LAMC2):c.2445G>A (p.Gly815=)	not provided [RCV001430800]	likely benign	1	183235719	183235719	Human		name
127249117	CV1088239	single nucleotide variant	NM_005562.3(LAMC2):c.2511G>A (p.Ala837=)	not provided [RCV001436027]	likely benign	1	183236514	183236514	Human		name
127256960	CV1088240	single nucleotide variant	NM_005562.3(LAMC2):c.2811A>G (p.Ala937=)	not provided [RCV001437816]	likely benign	1	183238363	183238363	Human		name
127263024	CV1088241	single nucleotide variant	NM_005562.3(LAMC2):c.2989C>T (p.Leu997=)	not provided [RCV001439190]	likely benign	1	183239483	183239483	Human		name
127316472	CV1109737	single nucleotide variant	NM_005562.3(LAMC2):c.1236C>G (p.Thr412=)	not provided [RCV001465551]	likely benign	1	183226867	183226867	Human		name
127315452	CV1109738	single nucleotide variant	NM_005562.3(LAMC2):c.1281C>T (p.Asp427=)	not provided [RCV001465213]	likely benign	1	183226912	183226912	Human		name
127290596	CV1109740	single nucleotide variant	NM_005562.3(LAMC2):c.1338A>G (p.Pro446=)	not provided [RCV001458481]	likely benign	1	183227567	183227567	Human		name
127335448	CV1109741	single nucleotide variant	NM_005562.3(LAMC2):c.1359G>A (p.Pro453=)	not provided [RCV001474305]	likely benign	1	183227588	183227588	Human		name
127332493	CV1109742	single nucleotide variant	NM_005562.3(LAMC2):c.1428G>A (p.Thr476=)	not provided [RCV001472245]	likely benign	1	183227657	183227657	Human		name
127334165	CV1109743	single nucleotide variant	NM_005562.3(LAMC2):c.1452C>T (p.Cys484=)	not provided [RCV001473424]	likely benign	1	183227681	183227681	Human		name
127335400	CV1109744	single nucleotide variant	NM_005562.3(LAMC2):c.1524T>C (p.His508=)	not provided [RCV001474278]	likely benign	1	183228429	183228429	Human		name
127296395	CV1109745	single nucleotide variant	NM_005562.3(LAMC2):c.1707G>A (p.Lys569=)	not provided [RCV001452732]	likely benign	1	183228612	183228612	Human		name
127317505	CV1109747	single nucleotide variant	NM_005562.3(LAMC2):c.1728C>T (p.Asn576=)	not provided [RCV001465910]	likely benign	1	183230974	183230974	Human		name
127297283	CV1109748	single nucleotide variant	NM_005562.3(LAMC2):c.1764T>C (p.Asp588=)	not provided [RCV001477572]	likely benign	1	183231010	183231010	Human		name
127324990	CV1109749	single nucleotide variant	NM_005562.3(LAMC2):c.1806T>C (p.Cys602=)	not provided [RCV001468330]	likely benign	1	183231052	183231052	Human		name
127336339	CV1109751	single nucleotide variant	NM_005562.3(LAMC2):c.2133G>A (p.Gln711=)	not provided [RCV001474893]	likely benign	1	183232770	183232770	Human		name
127314615	CV1109752	single nucleotide variant	NM_005562.3(LAMC2):c.2182C>T (p.Leu728=)	not provided [RCV001465025]	likely benign	1	183232819	183232819	Human		name
127290104	CV1109753	single nucleotide variant	NM_005562.3(LAMC2):c.2271G>A (p.Leu757=)	not provided [RCV001458346]	likely benign	1	183234417	183234417	Human		name
127335402	CV1109754	single nucleotide variant	NM_005562.3(LAMC2):c.2310G>A (p.Glu770=)	not provided [RCV001474279]	likely benign	1	183235584	183235584	Human		name
127298170	CV1109755	single nucleotide variant	NM_005562.3(LAMC2):c.2334G>A (p.Leu778=)	not provided [RCV001477842]	likely benign	1	183235608	183235608	Human		name
127323256	CV1109756	single nucleotide variant	NM_005562.3(LAMC2):c.2367C>G (p.Ala789=)	not provided [RCV001467838]	likely benign	1	183235641	183235641	Human		name
127294074	CV1109757	single nucleotide variant	NM_005562.3(LAMC2):c.2499G>A (p.Glu833=)	not provided [RCV001459345]	likely benign	1	183236502	183236502	Human		name
127296855	CV1109758	single nucleotide variant	NM_005562.3(LAMC2):c.2565G>C (p.Val855=)	not provided [RCV001477473]	likely benign	1	183236568	183236568	Human		name
127332491	CV1109759	single nucleotide variant	NM_005562.3(LAMC2):c.2694T>C (p.Asn898=)	not provided [RCV001472244]	likely benign	1	183237444	183237444	Human		name
127301310	CV1109760	single nucleotide variant	NM_005562.3(LAMC2):c.2715A>G (p.Glu905=)	not provided [RCV001454099]	likely benign	1	183237465	183237465	Human		name
127299816	CV1109761	single nucleotide variant	NM_005562.3(LAMC2):c.2751A>G (p.Arg917=)	not provided [RCV001478293]	likely benign	1	183237501	183237501	Human		name
127332185	CV1109762	single nucleotide variant	NM_005562.3(LAMC2):c.2931C>T (p.Ser977=)	not provided [RCV001472078]	likely benign	1	183239425	183239425	Human		name
127313090	CV1130637	single nucleotide variant	NM_005562.3(LAMC2):c.1053A>C (p.Thr351=)	not provided [RCV001502081]	likely benign	1	183225707	183225707	Human		name
127314922	CV1130638	single nucleotide variant	NM_005562.3(LAMC2):c.1200C>T (p.Tyr400=)	not provided [RCV001502591]	likely benign	1	183226831	183226831	Human		name
127331895	CV1130639	single nucleotide variant	NM_005562.3(LAMC2):c.1221G>A (p.Leu407=)	not provided [RCV001489120]	likely benign	1	183226852	183226852	Human		name
127337372	CV1130640	single nucleotide variant	NM_005562.3(LAMC2):c.1461G>A (p.Gly487=)	not provided [RCV001492813]	likely benign	1	183227690	183227690	Human		name
127328163	CV1130642	single nucleotide variant	NM_005562.3(LAMC2):c.1533G>A (p.Val511=)	not provided [RCV001506931]	likely benign	1	183228438	183228438	Human		name
127319693	CV1130643	single nucleotide variant	NM_005562.3(LAMC2):c.1605A>C (p.Thr535=)	not provided [RCV001483958]	likely benign	1	183228510	183228510	Human		name
127313029	CV1130644	single nucleotide variant	NM_005562.3(LAMC2):c.1716T>C (p.Ala572=)	not provided [RCV001502066]	likely benign	1	183230962	183230962	Human		name
127303778	CV1130645	single nucleotide variant	NM_005562.3(LAMC2):c.1746T>G (p.Pro582=)	not provided [RCV001479320]	likely benign	1	183230992	183230992	Human		name
127289377	CV1130647	single nucleotide variant	NM_005562.3(LAMC2):c.2097G>A (p.Lys699=)	not provided [RCV001495609]	likely benign	1	183232734	183232734	Human		name
127308261	CV1130649	single nucleotide variant	NM_005562.3(LAMC2):c.2409C>T (p.Ser803=)	not provided [RCV001500748]	likely benign	1	183235683	183235683	Human		name
127321376	CV1130650	single nucleotide variant	NM_005562.3(LAMC2):c.2427C>T (p.Asp809=)	not provided [RCV001504739]	likely benign	1	183235701	183235701	Human		name
127306955	CV1130651	single nucleotide variant	NM_005562.3(LAMC2):c.2433T>C (p.Ala811=)	not provided [RCV001480210]	likely benign	1	183235707	183235707	Human		name
127336668	CV1130652	single nucleotide variant	NM_005562.3(LAMC2):c.2448T>C (p.Leu816=)	not provided [RCV001492351]	likely benign	1	183235722	183235722	Human		name
127336840	CV1130654	single nucleotide variant	NM_005562.3(LAMC2):c.2458T>C (p.Leu820=)	not provided [RCV001492447]	likely benign	1	183236461	183236461	Human		name
127290591	CV1130655	single nucleotide variant	NM_005562.3(LAMC2):c.2661G>A (p.Arg887=)	not provided [RCV001496017]	likely benign	1	183237411	183237411	Human		name
127326007	CV1130656	single nucleotide variant	NM_005562.3(LAMC2):c.2767C>T (p.Leu923=)	not provided [RCV001485931]	likely benign	1	183238319	183238319	Human		name
127320353	CV1130657	single nucleotide variant	NM_005562.3(LAMC2):c.2769G>C (p.Leu923=)	not provided [RCV001504364]	likely benign	1	183238321	183238321	Human		name
127289387	CV1130658	single nucleotide variant	NM_005562.3(LAMC2):c.2838T>C (p.Tyr946=)	not provided [RCV001495612]	likely benign	1	183238390	183238390	Human		name
150440068	CV1221396	insertion	NM_005562.3(LAMC2):c.641-295_641-294insG	not provided [RCV001610091]	benign	1	183221794	183221795	Human		name
151753257	CV1363795	deletion	NM_005562.3(LAMC2):c.539del (p.Asn180fs)	not provided [RCV001872479]	pathogenic	1	183220859	183220859	Human		name
151888766	CV1402303	duplication	NM_005562.3(LAMC2):c.258dup (p.Asn87Ter)	not provided [RCV001942654]	pathogenic	1	183208058	183208059	Human		name
151826695	CV1414848	single nucleotide variant	NM_005562.3(LAMC2):c.1650C>T (p.Cys550=)	not provided [RCV001920090]	likely benign	1	183228555	183228555	Human		name
152095171	CV1521075	single nucleotide variant	NM_005562.3(LAMC2):c.1497C>T (p.Gly499=)	not provided [RCV002078244]	likely benign	1	183228402	183228402	Human		name
152042296	CV1522125	single nucleotide variant	NM_005562.3(LAMC2):c.2172T>C (p.Thr724=)	not provided [RCV002088120]	likely benign	1	183232809	183232809	Human		name
152062964	CV1524593	single nucleotide variant	NM_005562.3(LAMC2):c.1131C>T (p.Pro377=)	not provided [RCV002147005]	likely benign	1	183226762	183226762	Human		name
152167289	CV1524625	single nucleotide variant	NM_005562.3(LAMC2):c.2659A>C (p.Arg887=)	not provided [RCV002142124]	likely benign	1	183237409	183237409	Human		name
152046285	CV1526980	single nucleotide variant	NM_005562.3(LAMC2):c.2541C>T (p.His847=)	not provided [RCV002166309]	likely benign	1	183236544	183236544	Human		name
152044739	CV1535553	single nucleotide variant	NM_005562.3(LAMC2):c.2553C>G (p.Leu851=)	not provided [RCV002166145]	likely benign	1	183236556	183236556	Human		name
152143120	CV1538354	single nucleotide variant	NM_005562.3(LAMC2):c.1071T>C (p.Thr357=)	not provided [RCV002219642]	likely benign	1	183226702	183226702	Human		name
152067342	CV1547300	single nucleotide variant	NM_005562.3(LAMC2):c.2388C>T (p.Ala796=)	not provided [RCV002074628]	likely benign	1	183235662	183235662	Human		name
152108547	CV1550812	single nucleotide variant	NM_005562.3(LAMC2):c.1554A>G (p.Gln518=)	not provided [RCV002152735]	likely benign	1	183228459	183228459	Human		name
152083279	CV1554689	single nucleotide variant	NM_005562.3(LAMC2):c.2184G>A (p.Leu728=)	not provided [RCV002211699]	likely benign	1	183232821	183232821	Human		name
152167536	CV1558088	single nucleotide variant	NM_005562.3(LAMC2):c.2403C>G (p.Val801=)	not provided [RCV002182196]	likely benign	1	183235677	183235677	Human		name
152076634	CV1564545	single nucleotide variant	NM_005562.3(LAMC2):c.2355T>C (p.Tyr785=)	not provided [RCV002192496]	likely benign	1	183235629	183235629	Human		name
152069602	CV1569966	single nucleotide variant	NM_005562.3(LAMC2):c.2739A>C (p.Gly913=)	not provided [RCV002191605]	likely benign	1	183237489	183237489	Human		name
152054005	CV1575121	single nucleotide variant	NM_005562.3(LAMC2):c.2067C>T (p.Asn689=)	not provided [RCV002109319]	likely benign	1	183232704	183232704	Human		name
152038254	CV1576710	single nucleotide variant	NM_005562.3(LAMC2):c.1056T>C (p.Tyr352=)	not provided [RCV002107347]	likely benign	1	183225710	183225710	Human		name
152125162	CV1580651	single nucleotide variant	NM_005562.3(LAMC2):c.2922G>A (p.Lys974=)	not provided [RCV002082110]	likely benign	1	183239416	183239416	Human		name
152146110	CV1582760	single nucleotide variant	NM_005562.3(LAMC2):c.2406A>C (p.Gly802=)	not provided [RCV002201262]	likely benign	1	183235680	183235680	Human		name
152129624	CV1583928	single nucleotide variant	NM_005562.3(LAMC2):c.1684T>C (p.Leu562=)	not provided [RCV002199149]	likely benign	1	183228589	183228589	Human		name
152170367	CV1592394	single nucleotide variant	NM_005562.3(LAMC2):c.2391G>C (p.Leu797=)	not provided [RCV002161748]	likely benign	1	183235665	183235665	Human		name
152136767	CV1595204	single nucleotide variant	NM_005562.3(LAMC2):c.1692C>T (p.Pro564=)	not provided [RCV002200050]	likely benign	1	183228597	183228597	Human		name
152172217	CV1598083	single nucleotide variant	NM_005562.3(LAMC2):c.1509C>T (p.Asp503=)	not provided [RCV002162378]	likely benign	1	183228414	183228414	Human		name
152046422	CV1600348	single nucleotide variant	NM_005562.3(LAMC2):c.2304C>T (p.His768=)	not provided [RCV002088600]	likely benign	1	183235578	183235578	Human		name
152115099	CV1600448	single nucleotide variant	NM_005562.3(LAMC2):c.2652G>A (p.Leu884=)	not provided [RCV002097370]	likely benign	1	183237402	183237402	Human		name
152175125	CV1601902	single nucleotide variant	NM_005562.3(LAMC2):c.2901A>G (p.Ala967=)	not provided [RCV002163379]	likely benign	1	183239395	183239395	Human		name
152109353	CV1604284	single nucleotide variant	NM_005562.3(LAMC2):c.1158T>C (p.Val386=)	not provided [RCV002080036]	likely benign	1	183226789	183226789	Human		name
152076717	CV1604577	single nucleotide variant	NM_005562.3(LAMC2):c.2022C>T (p.Ser674=)	not provided [RCV002092321]	likely benign	1	183232659	183232659	Human		name
152064531	CV1606903	single nucleotide variant	NM_005562.3(LAMC2):c.1018C>T (p.Leu340=)	not provided [RCV002209134]	likely benign	1	183225672	183225672	Human		name
152040053	CV1608784	single nucleotide variant	NM_005562.3(LAMC2):c.2160C>T (p.His720=)	not provided [RCV002107603]	likely benign	1	183232797	183232797	Human		name
152074935	CV1611180	single nucleotide variant	NM_005562.3(LAMC2):c.2439G>T (p.Val813=)	not provided [RCV002130087]	likely benign	1	183235713	183235713	Human		name
152033143	CV1614981	single nucleotide variant	NM_005562.3(LAMC2):c.1263A>G (p.Gly421=)	not provided [RCV002086718]	likely benign	1	183226894	183226894	Human		name
152053437	CV1619416	single nucleotide variant	NM_005562.3(LAMC2):c.1365C>T (p.Asp455=)	not provided [RCV002167154]	likely benign	1	183227594	183227594	Human		name
152108227	CV1623396	single nucleotide variant	NM_005562.3(LAMC2):c.2484G>A (p.Gln828=)	not provided [RCV002215110]	likely benign	1	183236487	183236487	Human		name
152027398	CV1626901	single nucleotide variant	NM_005562.3(LAMC2):c.2166C>T (p.Leu722=)	not provided [RCV002185486]	likely benign	1	183232803	183232803	Human		name
152141293	CV1628916	single nucleotide variant	NM_005562.3(LAMC2):c.2569C>A (p.Arg857=)	not provided [RCV002100812]	likely benign	1	183236572	183236572	Human		name
152142627	CV1636473	single nucleotide variant	NM_005562.3(LAMC2):c.1023G>C (p.Arg341=)	not provided [RCV002120586]	likely benign	1	183225677	183225677	Human		name
152172641	CV1641683	single nucleotide variant	NM_005562.3(LAMC2):c.1269C>G (p.Ala423=)	not provided [RCV002183908]	likely benign	1	183226900	183226900	Human		name
152083970	CV1645581	single nucleotide variant	NM_005562.3(LAMC2):c.1359G>C (p.Pro453=)	not provided [RCV002170914]	likely benign	1	183227588	183227588	Human		name
152060053	CV1648553	single nucleotide variant	NM_005562.3(LAMC2):c.2041T>C (p.Leu681=)	not provided [RCV002090144]	likely benign	1	183232678	183232678	Human		name
152051947	CV1649786	single nucleotide variant	NM_005562.3(LAMC2):c.2439G>A (p.Val813=)	not provided [RCV002166986]	likely benign	1	183235713	183235713	Human		name
152070821	CV1650893	single nucleotide variant	NM_005562.3(LAMC2):c.2796C>T (p.Ser932=)	not provided [RCV002148052]	likely benign	1	183238348	183238348	Human		name
152072809	CV1657271	single nucleotide variant	NM_005562.3(LAMC2):c.1962G>A (p.Gln654=)	not provided [RCV002210204]	likely benign	1	183232291	183232291	Human		name
152099878	CV1664031	single nucleotide variant	NM_005562.3(LAMC2):c.2031T>C (p.Leu677=)	not provided [RCV002078848]	likely benign	1	183232668	183232668	Human		name
152100521	CV1664139	single nucleotide variant	NM_005562.3(LAMC2):c.2184G>C (p.Leu728=)	not provided [RCV002078927]	likely benign	1	183232821	183232821	Human		name
152133066	CV1666127	single nucleotide variant	NM_005562.3(LAMC2):c.2280G>A (p.Glu760=)	not provided [RCV002099746]	likely benign	1	183234426	183234426	Human		name
155726254	CV1783750	single nucleotide variant	NM_005562.3(LAMC2):c.252C>A (p.Cys84Ter)	Junctional epidermolysis bullosa gravis of Herlitz [RCV002307194]	likely pathogenic	1	183208053	183208053	Human	1	name
156408779	CV1870306	single nucleotide variant	NM_005562.3(LAMC2):c.2424G>T (p.Pro808=)	not provided [RCV003071405]	likely benign	1	183235698	183235698	Human		name
156044254	CV1887348	single nucleotide variant	NM_005562.3(LAMC2):c.1021C>A (p.Arg341=)	not provided [RCV003078640]	likely benign	1	183225675	183225675	Human		name
156111640	CV1903973	single nucleotide variant	NM_005562.3(LAMC2):c.2685A>G (p.Thr895=)	not provided [RCV003080996]	likely benign	1	183237435	183237435	Human		name
156405426	CV1913094	single nucleotide variant	NM_005562.3(LAMC2):c.2424G>A (p.Pro808=)	not provided [RCV002606329]	likely benign	1	183235698	183235698	Human		name
10050757	CV192407	single nucleotide variant	NM_005562.3(LAMC2):c.196G>A (p.Glu66Lys)	Junctional epidermolysis bullosa [RCV000283518]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV001731418]\|not provided [RCV000175807]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	183207997	183207997	Human	2	name
156447236	CV1944880	single nucleotide variant	NM_005562.3(LAMC2):c.2640A>G (p.Ser880=)	not provided [RCV003118763]	likely benign	1	183237390	183237390	Human		name
156336619	CV1976876	single nucleotide variant	NM_005562.3(LAMC2):c.2883G>A (p.Gln961=)	not provided [RCV002601065]	likely benign	1	183239377	183239377	Human		name
155912391	CV1980276	single nucleotide variant	NM_005562.3(LAMC2):c.1602G>A (p.Leu534=)	not provided [RCV002614087]	likely benign	1	183228507	183228507	Human		name
156014406	CV1986218	single nucleotide variant	NM_005562.3(LAMC2):c.1008T>C (p.Tyr336=)	not provided [RCV002636391]	likely benign	1	183225662	183225662	Human		name
156391118	CV1995525	single nucleotide variant	NM_005562.3(LAMC2):c.1170G>A (p.Gly390=)	not provided [RCV002680771]	likely benign	1	183226801	183226801	Human		name
156284965	CV2001645	single nucleotide variant	NM_005562.3(LAMC2):c.1770C>G (p.Thr590=)	not provided [RCV002646973]	likely benign	1	183231016	183231016	Human		name
156367829	CV2007455	single nucleotide variant	NM_005562.3(LAMC2):c.2937C>T (p.Ile979=)	not provided [RCV002676687]	likely benign	1	183239431	183239431	Human		name
156081114	CV2012001	duplication	NM_005562.3(LAMC2):c.675dup (p.Ser226fs)	not provided [RCV002705993]	pathogenic	1	183222120	183222121	Human		name
156215456	CV2015211	single nucleotide variant	NM_005562.3(LAMC2):c.2496G>A (p.Arg832=)	not provided [RCV002700795]	likely benign	1	183236499	183236499	Human		name
155949704	CV2026129	single nucleotide variant	NM_005562.3(LAMC2):c.2571G>C (p.Arg857=)	not provided [RCV002730613]	likely benign	1	183236574	183236574	Human		name
156038034	CV2030113	single nucleotide variant	NM_005562.3(LAMC2):c.2403C>A (p.Val801=)	not provided [RCV002736075]	likely benign	1	183235677	183235677	Human		name
156111601	CV2069091	single nucleotide variant	NM_005562.3(LAMC2):c.2547C>T (p.Leu849=)	not provided [RCV002870918]	likely benign	1	183236550	183236550	Human		name
156234447	CV2081667	single nucleotide variant	NM_005562.3(LAMC2):c.2637T>C (p.Asp879=)	not provided [RCV002876362]	likely benign	1	183237387	183237387	Human		name
155959620	CV2083387	single nucleotide variant	NM_005562.3(LAMC2):c.2916C>T (p.Ala972=)	not provided [RCV002862795]	likely benign	1	183239410	183239410	Human		name
156134609	CV2085747	single nucleotide variant	NM_005562.3(LAMC2):c.1711C>A (p.Arg571=)	not provided [RCV002871761]	likely benign	1	183228616	183228616	Human		name
156117465	CV2086585	single nucleotide variant	NM_005562.3(LAMC2):c.2358C>G (p.Ser786=)	not provided [RCV002871132]	likely benign	1	183235632	183235632	Human		name
156141256	CV2090663	single nucleotide variant	NM_005562.3(LAMC2):c.2862C>T (p.Asn954=)	not provided [RCV002890314]	likely benign	1	183238414	183238414	Human		name
156133957	CV2097256	single nucleotide variant	NM_005562.3(LAMC2):c.2562A>T (p.Ser854=)	not provided [RCV002890053]	likely benign	1	183236565	183236565	Human		name
156286119	CV2114878	single nucleotide variant	NM_005562.3(LAMC2):c.2841A>G (p.Glu947=)	not provided [RCV002921957]	likely benign	1	183238393	183238393	Human		name
156054256	CV2137305	single nucleotide variant	NM_005562.3(LAMC2):c.2010A>C (p.Ser670=)	not provided [RCV002999978]	likely benign	1	183232339	183232339	Human		name
156049972	CV2140726	single nucleotide variant	NM_005562.3(LAMC2):c.2565G>A (p.Val855=)	not provided [RCV002999839]	likely benign	1	183236568	183236568	Human		name
156129291	CV2158670	single nucleotide variant	NM_005562.3(LAMC2):c.1161G>A (p.Gly387=)	not provided [RCV003022113]	likely benign	1	183226792	183226792	Human		name
156295036	CV2162616	single nucleotide variant	NM_005562.3(LAMC2):c.2157T>G (p.Thr719=)	not provided [RCV003045298]	likely benign	1	183232794	183232794	Human		name
156321045	CV2166505	single nucleotide variant	NM_005562.3(LAMC2):c.2091C>T (p.Asp697=)	not provided [RCV003029163]	likely benign	1	183232728	183232728	Human		name
156195936	CV2171545	single nucleotide variant	NM_005562.3(LAMC2):c.1137T>G (p.Val379=)	not provided [RCV003024286]	likely benign	1	183226768	183226768	Human		name
156123755	CV2175116	single nucleotide variant	NM_005562.3(LAMC2):c.1035C>A (p.Ala345=)	not provided [RCV003055569]	likely benign	1	183225689	183225689	Human		name
156126537	CV2176134	single nucleotide variant	NM_005562.3(LAMC2):c.2247G>A (p.Val749=)	not provided [RCV003039525]	likely benign	1	183234393	183234393	Human		name
156216442	CV2176670	single nucleotide variant	NM_005562.3(LAMC2):c.1770C>T (p.Thr590=)	not provided [RCV003025019]	likely benign	1	183231016	183231016	Human		name
156216484	CV2176672	single nucleotide variant	NM_005562.3(LAMC2):c.2712A>G (p.Glu904=)	not provided [RCV003025021]	likely benign	1	183237462	183237462	Human		name
156114150	CV2177597	single nucleotide variant	NM_005562.3(LAMC2):c.2955T>C (p.Asp985=)	not provided [RCV003055206]	likely benign	1	183239449	183239449	Human		name
155989194	CV2234288	single nucleotide variant	NM_005562.3(LAMC2):c.254A>G (p.Asn85Ser)	Inborn genetic diseases [RCV002733157]	uncertain significance	1	183208055	183208055	Human	1	name
155955061	CV2302352	single nucleotide variant	NM_005562.3(LAMC2):c.169A>G (p.Asn57Asp)	Inborn genetic diseases [RCV002905475]	uncertain significance	1	183207970	183207970	Human	1	name
156259836	CV2366386	single nucleotide variant	NM_005562.3(LAMC2):c.133A>G (p.Arg45Gly)	Inborn genetic diseases [RCV003008865]	uncertain significance	1	183207934	183207934	Human	1	name
11548273	CV249579	single nucleotide variant	NM_005562.3(LAMC2):c.2688G>A (p.Gln896=)	Junctional epidermolysis bullosa [RCV000328991]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV001537740]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV001537741]\|not provided [RCV001521607]\|not specified [RCV000248863]	benign	1	183237438	183237438	Human	6	name
11548273	CV249579	single nucleotide variant	NM_005562.3(LAMC2):c.2688G>A (p.Gln896=)	Junctional epidermolysis bullosa [RCV000328991]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV001537740]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV001537741]\|not provided [RCV001521607]\|not specified [RCV000248863]	benign	1	183237438	183237439	Human	6	name
401783197	CV2716175	single nucleotide variant	NM_005562.3(LAMC2):c.232A>G (p.Arg78Gly)	Inborn genetic diseases [RCV003309357]	uncertain significance	1	183208033	183208033	Human	1	name
11643872	CV271754	single nucleotide variant	NM_005562.3(LAMC2):c.1899G>C (p.Leu633=)	Junctional epidermolysis bullosa [RCV001100521]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV001526750]\|LAMC2-related disorder [RCV004752829]\|not provided [RCV000402125]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	183232228	183232228	Human	4	name , alternate_id
401856468	CV2752529	single nucleotide variant	NM_005562.3(LAMC2):c.195C>A (p.Cys65Ter)	Junctional epidermolysis bullosa gravis of Herlitz [RCV003340867]	likely pathogenic	1	183207996	183207996	Human	1	name
11581762	CV277674	single nucleotide variant	NM_005562.3(LAMC2):c.2736T>C (p.Asn912=)	Junctional epidermolysis bullosa [RCV000383511]\|LAMC2-related disorder [RCV004752840]\|not provided [RCV000882232]	benign\|likely benign\|uncertain significance	1	183237486	183237486	Human	2	name , alternate_id
11581737	CV277795	single nucleotide variant	NM_005562.3(LAMC2):c.2634G>A (p.Ala878=)	Junctional epidermolysis bullosa [RCV000382362]\|LAMC2-related disorder [RCV004752839]\|not provided [RCV000918250]	likely benign\|uncertain significance	1	183237384	183237384	Human	2	name , alternate_id
11580910	CV277808	single nucleotide variant	NM_005562.3(LAMC2):c.2892C>T (p.Asn964=)	Junctional epidermolysis bullosa [RCV000348280]\|LAMC2-related disorder [RCV004752841]\|not provided [RCV000891723]	likely benign\|uncertain significance	1	183239386	183239386	Human	2	name , alternate_id
11582223	CV278811	single nucleotide variant	NM_005562.3(LAMC2):c.1491T>G (p.Ala497=)	Junctional epidermolysis bullosa [RCV000402912]\|LAMC2-related disorder [RCV003977825]\|not provided [RCV000894680]	benign\|likely benign\|uncertain significance	1	183228396	183228396	Human	2	name , alternate_id
401906323	CV2806235	single nucleotide variant	NM_005562.3(LAMC2):c.1536G>A (p.Arg512=)	not provided [RCV003421269]	likely benign	1	183228441	183228441	Human		name
402477047	CV2853625	single nucleotide variant	NM_005562.3(LAMC2):c.1410C>T (p.Cys470=)	not provided [RCV003543547]	likely benign	1	183227639	183227639	Human		name
405018530	CV2856132	single nucleotide variant	NM_005562.3(LAMC2):c.1518T>A (p.Gly506=)	not provided [RCV003577339]	likely benign	1	183228423	183228423	Human		name
405041498	CV2862776	single nucleotide variant	NM_005562.3(LAMC2):c.2856T>C (p.Leu952=)	not provided [RCV003579146]	likely benign	1	183238408	183238408	Human		name
402501326	CV2869063	single nucleotide variant	NM_005562.3(LAMC2):c.1731C>T (p.Pro577=)	not provided [RCV003545930]	likely benign	1	183230977	183230977	Human		name
405075651	CV2873168	single nucleotide variant	NM_005562.3(LAMC2):c.2058C>T (p.Ser686=)	not provided [RCV003548742]	likely benign	1	183232695	183232695	Human		name
405167995	CV2901045	single nucleotide variant	NM_005562.3(LAMC2):c.2973G>A (p.Gln991=)	not provided [RCV003562894]	likely benign	1	183239467	183239467	Human		name
402472720	CV2908674	single nucleotide variant	NM_005562.3(LAMC2):c.2370C>G (p.Leu790=)	not provided [RCV003570848]	likely benign	1	183235644	183235644	Human		name
405208652	CV2909359	single nucleotide variant	NM_005562.3(LAMC2):c.1053A>T (p.Thr351=)	not provided [RCV003566841]	likely benign	1	183225707	183225707	Human		name
405210451	CV2920873	single nucleotide variant	NM_005562.3(LAMC2):c.1587G>C (p.Gly529=)	not provided [RCV003567090]	likely benign	1	183228492	183228492	Human		name
405067785	CV2923952	single nucleotide variant	NM_005562.3(LAMC2):c.2199T>C (p.Ser733=)	not provided [RCV003580930]	likely benign	1	183232836	183232836	Human		name
405190678	CV2924644	single nucleotide variant	NM_005562.3(LAMC2):c.2856T>G (p.Leu952=)	not provided [RCV003564823]	likely benign	1	183238408	183238408	Human		name
405064728	CV2927406	single nucleotide variant	NM_005562.3(LAMC2):c.1197C>A (p.Gly399=)	not provided [RCV003580734]	likely benign	1	183226828	183226828	Human		name
405039914	CV2929892	single nucleotide variant	NM_005562.3(LAMC2):c.2550C>T (p.Arg850=)	not provided [RCV003579002]	likely benign	1	183236553	183236553	Human		name
405069625	CV2933252	single nucleotide variant	NM_005562.3(LAMC2):c.1266G>A (p.Gly422=)	LAMC2-related disorder [RCV003929272]\|not provided [RCV003581036]	likely benign	1	183226897	183226897	Human	1	name , alternate_id
405089115	CV2943355	single nucleotide variant	NM_005562.3(LAMC2):c.2346T>C (p.Thr782=)	not provided [RCV003665080]	likely benign	1	183235620	183235620	Human		name
405153522	CV2949325	single nucleotide variant	NM_005562.3(LAMC2):c.1587G>A (p.Gly529=)	not provided [RCV003674176]	likely benign	1	183228492	183228492	Human		name
405116114	CV2951667	single nucleotide variant	NM_005562.3(LAMC2):c.1797C>A (p.Gly599=)	not provided [RCV003670966]	likely benign	1	183231043	183231043	Human		name
405114737	CV2953024	single nucleotide variant	NM_005562.3(LAMC2):c.2805A>G (p.Gln935=)	not provided [RCV003666782]	likely benign	1	183238357	183238357	Human		name
405131513	CV2959091	single nucleotide variant	NM_005562.3(LAMC2):c.1803C>T (p.Asn601=)	not provided [RCV003668420]	likely benign	1	183231049	183231049	Human		name
8599857	CV29594	single nucleotide variant	NM_005562.3(LAMC2):c.283C>T (p.Arg95Ter)	Epidermolysis bullosa, junctional 3B, severe [RCV002051622]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV000015656]\|not provided [RCV001243997]	pathogenic	1	183215467	183215467	Human	2	name
405130167	CV2962191	single nucleotide variant	NM_005562.3(LAMC2):c.2295A>T (p.Ala765=)	not provided [RCV003668215]	likely benign	1	183234441	183234441	Human		name
405221827	CV2966253	single nucleotide variant	NM_005562.3(LAMC2):c.1701A>G (p.Ala567=)	not provided [RCV003680783]	likely benign	1	183228606	183228606	Human		name
405229491	CV2967871	single nucleotide variant	NM_005562.3(LAMC2):c.1476C>T (p.Arg492=)	not provided [RCV003681954]	likely benign	1	183228381	183228381	Human		name
405229266	CV2967910	single nucleotide variant	NM_005562.3(LAMC2):c.1635A>G (p.Thr545=)	not provided [RCV003681975]	likely benign	1	183228540	183228540	Human		name
405244650	CV2968335	single nucleotide variant	NM_005562.3(LAMC2):c.1599G>C (p.Arg533=)	not provided [RCV003684908]	likely benign	1	183228504	183228504	Human		name
405218394	CV2968561	deletion	NM_005562.3(LAMC2):c.961del (p.Glu321fs)	not provided [RCV003680250]	pathogenic	1	183225615	183225615	Human		name
405220302	CV2969675	single nucleotide variant	NM_005562.3(LAMC2):c.1885A>C (p.Arg629=)	not provided [RCV003680579]	likely benign	1	183232214	183232214	Human		name
405243746	CV2971711	single nucleotide variant	NM_005562.3(LAMC2):c.2064G>A (p.Glu688=)	not provided [RCV003684665]	likely benign	1	183232701	183232701	Human		name
405234108	CV2975621	single nucleotide variant	NM_005562.3(LAMC2):c.2340G>A (p.Arg780=)	not provided [RCV003682747]	likely benign	1	183235614	183235614	Human		name
404986233	CV2979838	single nucleotide variant	NM_005562.3(LAMC2):c.1053A>G (p.Thr351=)	not provided [RCV003691770]	likely benign	1	183225707	183225707	Human		name
405011725	CV2980328	single nucleotide variant	NM_005562.3(LAMC2):c.2328G>A (p.Glu776=)	not provided [RCV003694041]	likely benign	1	183235602	183235602	Human		name
404981967	CV2986426	single nucleotide variant	NM_005562.3(LAMC2):c.2313A>T (p.Ser771=)	not provided [RCV003691356]	likely benign	1	183235587	183235587	Human		name
402480388	CV2991032	single nucleotide variant	NM_005562.3(LAMC2):c.2778T>G (p.Arg926=)	not provided [RCV003686497]	likely benign	1	183238330	183238330	Human		name
405119979	CV2993947	single nucleotide variant	NM_005562.3(LAMC2):c.2472G>A (p.Lys824=)	not provided [RCV003723780]	likely benign	1	183236475	183236475	Human		name
405014825	CV2995203	single nucleotide variant	NM_005562.3(LAMC2):c.2172T>A (p.Thr724=)	not provided [RCV003694296]	likely benign	1	183232809	183232809	Human		name
404992040	CV2999317	single nucleotide variant	NM_005562.3(LAMC2):c.2670T>C (p.Asp890=)	not provided [RCV003692312]	likely benign	1	183237420	183237420	Human		name
402495134	CV3005645	single nucleotide variant	NM_005562.3(LAMC2):c.2118G>T (p.Arg706=)	not provided [RCV003687935]	likely benign	1	183232755	183232755	Human		name
405006311	CV3010047	single nucleotide variant	NM_005562.3(LAMC2):c.2847G>A (p.Glu949=)	not provided [RCV003693563]	likely benign	1	183238399	183238399	Human		name
405003462	CV3016348	single nucleotide variant	NM_005562.3(LAMC2):c.2523A>C (p.Ala841=)	not provided [RCV003693394]	likely benign	1	183236526	183236526	Human		name
405035482	CV3016640	single nucleotide variant	NM_005562.3(LAMC2):c.1335C>T (p.Cys445=)	not provided [RCV003695905]	likely benign	1	183227564	183227564	Human		name
405044079	CV3017563	single nucleotide variant	NM_005562.3(LAMC2):c.1176C>T (p.Phe392=)	not provided [RCV003696536]	likely benign	1	183226807	183226807	Human		name
405058019	CV3019586	single nucleotide variant	NM_005562.3(LAMC2):c.2121T>C (p.Ala707=)	not provided [RCV003697418]	likely benign	1	183232758	183232758	Human		name
405140095	CV3029825	single nucleotide variant	NM_005562.3(LAMC2):c.1086T>C (p.Asn362=)	not provided [RCV003702433]	likely benign	1	183226717	183226717	Human		name
405119700	CV3030518	single nucleotide variant	NM_005562.3(LAMC2):c.1527C>T (p.Gly509=)	not provided [RCV003700514]	likely benign	1	183228432	183228432	Human		name
405184399	CV3031906	single nucleotide variant	NM_005562.3(LAMC2):c.1173A>G (p.Gln391=)	not provided [RCV003705722]	likely benign	1	183226804	183226804	Human		name
405197843	CV3032689	single nucleotide variant	NM_005562.3(LAMC2):c.2757A>G (p.Lys919=)	not provided [RCV003707128]	likely benign	1	183238309	183238309	Human		name
405209322	CV3034203	single nucleotide variant	NM_005562.3(LAMC2):c.2083C>T (p.Leu695=)	not provided [RCV003708434]	likely benign	1	183232720	183232720	Human		name
405219693	CV3035039	single nucleotide variant	NM_005562.3(LAMC2):c.2085G>C (p.Leu695=)	not provided [RCV003709725]	likely benign	1	183232722	183232722	Human		name
405235717	CV3040964	single nucleotide variant	NM_005562.3(LAMC2):c.2403C>T (p.Val801=)	not provided [RCV003712322]	likely benign	1	183235677	183235677	Human		name
405242397	CV3042758	single nucleotide variant	NM_005562.3(LAMC2):c.2379G>C (p.Val793=)	not provided [RCV003719480]	likely benign	1	183235653	183235653	Human		name
405251581	CV3049901	single nucleotide variant	NM_005562.3(LAMC2):c.2535T>C (p.Tyr845=)	not provided [RCV003721862]	likely benign	1	183236538	183236538	Human		name
405222730	CV3057139	single nucleotide variant	NM_005562.3(LAMC2):c.2232C>T (p.Ala744=)	not provided [RCV003733558]	likely benign	1	183234378	183234378	Human		name
405220971	CV3060094	single nucleotide variant	NM_005562.3(LAMC2):c.1413A>G (p.Ser471=)	not provided [RCV003733301]	likely benign	1	183227642	183227642	Human		name
405159590	CV3061751	single nucleotide variant	NM_005562.3(LAMC2):c.2349G>A (p.Glu783=)	not provided [RCV003727001]	likely benign	1	183235623	183235623	Human		name
405242404	CV3076913	single nucleotide variant	NM_005562.3(LAMC2):c.1206A>G (p.Arg402=)	not provided [RCV003737561]	likely benign	1	183226837	183226837	Human		name
402523152	CV3126979	single nucleotide variant	NM_005562.3(LAMC2):c.1512C>T (p.Pro504=)	not provided [RCV003824897]	likely benign	1	183228417	183228417	Human		name
405033006	CV3130235	single nucleotide variant	NM_005562.3(LAMC2):c.1908G>A (p.Lys636=)	not provided [RCV003830642]	likely benign	1	183232237	183232237	Human		name
405071344	CV3140332	single nucleotide variant	NM_005562.3(LAMC2):c.1818A>G (p.Ala606=)	not provided [RCV003833487]	likely benign	1	183231064	183231064	Human		name
405213326	CV3142786	single nucleotide variant	NM_005562.3(LAMC2):c.2709A>G (p.Lys903=)	not provided [RCV003846144]	likely benign	1	183237459	183237459	Human		name
405070264	CV3145284	single nucleotide variant	NM_005562.3(LAMC2):c.1290T>C (p.Asp430=)	not provided [RCV003850869]	likely benign	1	183227519	183227519	Human		name
405210788	CV3146250	single nucleotide variant	NM_005562.3(LAMC2):c.2931C>A (p.Ser977=)	not provided [RCV003845781]	likely benign	1	183239425	183239425	Human		name
405182346	CV3147638	single nucleotide variant	NM_005562.3(LAMC2):c.1878G>A (p.Gln626=)	not provided [RCV003842540]	likely benign	1	183232207	183232207	Human		name
405043040	CV3154141	single nucleotide variant	NM_005562.3(LAMC2):c.2175G>A (p.Gln725=)	not provided [RCV003849009]	likely benign	1	183232812	183232812	Human		name
405231380	CV3157390	single nucleotide variant	NM_005562.3(LAMC2):c.1320T>C (p.Ile440=)	not provided [RCV003865340]	likely benign	1	183227549	183227549	Human		name
405160109	CV3159925	single nucleotide variant	NM_005562.3(LAMC2):c.1647C>T (p.Tyr549=)	not provided [RCV003856996]	likely benign	1	183228552	183228552	Human		name
405131651	CV3163734	single nucleotide variant	NM_005562.3(LAMC2):c.2865C>T (p.Leu955=)	not provided [RCV003854722]	likely benign	1	183238417	183238417	Human		name
405255642	CV3172623	single nucleotide variant	NM_005562.3(LAMC2):c.1449C>T (p.Asn483=)	not provided [RCV003872561]	likely benign	1	183227678	183227678	Human		name
404990349	CV3179973	single nucleotide variant	NM_005562.3(LAMC2):c.1011A>C (p.Arg337=)	not provided [RCV003881451]	likely benign	1	183225665	183225665	Human		name
408389361	CV3523033	single nucleotide variant	NM_005562.3(LAMC2):c.185G>A (p.Gly62Asp)	not provided [RCV004769414]	uncertain significance	1	183207986	183207986	Human		name
12739606	CV357013	deletion	NM_005562.3(LAMC2):c.537del (p.Asn180fs)	Junctional epidermolysis bullosa gravis of Herlitz [RCV000410004]\|not provided [RCV003698785]	pathogenic\|likely pathogenic	1	183220853	183220853	Human	1	name
597850870	CV3737280	single nucleotide variant	NM_005562.3(LAMC2):c.2337A>C (p.Thr779=)	not provided [RCV005066246]	likely benign	1	183235611	183235611	Human		name
597854550	CV3762500	duplication	NM_005562.3(LAMC2):c.382dup (p.Cys128fs)	Junctional epidermolysis bullosa [RCV005088416]	pathogenic	1	183215565	183215566	Human	1	name
597943474	CV3765817	single nucleotide variant	NM_005562.3(LAMC2):c.2229T>C (p.Pro743=)	not provided [RCV005119195]	likely benign	1	183234375	183234375	Human		name
597916478	CV3767691	single nucleotide variant	NM_005562.3(LAMC2):c.2775C>T (p.Ser925=)	not provided [RCV005114492]	likely benign	1	183238327	183238327	Human		name
597946705	CV3774942	single nucleotide variant	NM_005562.3(LAMC2):c.1161G>T (p.Gly387=)	not provided [RCV005120039]	likely benign	1	183226792	183226792	Human		name
597954541	CV3786707	single nucleotide variant	NM_005562.3(LAMC2):c.1233C>G (p.Gly411=)	not provided [RCV005121798]	likely benign	1	183226864	183226864	Human		name
597965355	CV3827649	single nucleotide variant	NM_005562.3(LAMC2):c.1260G>A (p.Gly420=)	not provided [RCV005164904]	likely benign	1	183226891	183226891	Human		name
616940037	CV4014237	single nucleotide variant	NM_005562.3(LAMC2):c.1194T>C (p.Ser398=)	not provided [RCV005413730]	likely benign	1	183226825	183226825	Human		name
13790414	CV540730	duplication	NM_005562.3(LAMC2):c.180dup (p.Asp61Ter)	Junctional epidermolysis bullosa gravis of Herlitz [RCV000675023]	likely pathogenic	1	183207980	183207981	Human	1	name
15112177	CV718426	single nucleotide variant	NM_005562.3(LAMC2):c.1986C>T (p.Asp662=)	not provided [RCV000894417]	benign	1	183232315	183232315	Human		name
15192322	CV718428	single nucleotide variant	NM_005562.3(LAMC2):c.2970C>A (p.Thr990=)	LAMC2-related disorder [RCV003968089]\|not provided [RCV000888631]	benign\|likely benign	1	183239464	183239464	Human	1	name , alternate_id
15118326	CV731907	single nucleotide variant	NM_005562.3(LAMC2):c.1215G>A (p.Ala405=)	Junctional epidermolysis bullosa [RCV001096970]\|not provided [RCV000895528]	likely benign\|uncertain significance	1	183226846	183226846	Human	1	name
15127914	CV731908	single nucleotide variant	NM_005562.3(LAMC2):c.1353C>T (p.Asn451=)	not provided [RCV000897186]	likely benign	1	183227582	183227582	Human		name
15187692	CV731909	single nucleotide variant	NM_005562.3(LAMC2):c.1401G>A (p.Gly467=)	not provided [RCV000909158]	likely benign	1	183227630	183227630	Human		name
15153516	CV731910	single nucleotide variant	NM_005562.3(LAMC2):c.1797C>T (p.Gly599=)	not provided [RCV000901775]	likely benign	1	183231043	183231043	Human		name
15198585	CV745881	single nucleotide variant	NM_005562.3(LAMC2):c.1143G>A (p.Gln381=)	not provided [RCV000912303]	likely benign	1	183226774	183226774	Human		name
15147974	CV745882	single nucleotide variant	NM_005562.3(LAMC2):c.1185T>C (p.Asp395=)	not provided [RCV000923010]	likely benign	1	183226816	183226816	Human		name
15156211	CV745884	single nucleotide variant	NM_005562.3(LAMC2):c.1638C>T (p.Ala546=)	not provided [RCV000924624]	likely benign	1	183228543	183228543	Human		name
15163354	CV745887	single nucleotide variant	NM_005562.3(LAMC2):c.2475C>T (p.Ser825=)	not provided [RCV000926108]	benign	1	183236478	183236478	Human		name
15146713	CV745888	single nucleotide variant	NM_005562.3(LAMC2):c.2802A>G (p.Ala934=)	not provided [RCV000922768]	likely benign	1	183238354	183238354	Human		name
15199620	CV761372	single nucleotide variant	NM_005562.3(LAMC2):c.1074G>A (p.Gly358=)	Junctional epidermolysis bullosa [RCV001096969]\|not provided [RCV000935155]	benign\|uncertain significance	1	183226705	183226705	Human	1	name
15172314	CV761373	single nucleotide variant	NM_005562.3(LAMC2):c.1089G>A (p.Val363=)	not provided [RCV000928088]	likely benign	1	183226720	183226720	Human		name
15121388	CV761374	single nucleotide variant	NM_005562.3(LAMC2):c.1104C>T (p.Ala368=)	not provided [RCV000940514]	likely benign	1	183226735	183226735	Human		name
15148577	CV761375	single nucleotide variant	NM_005562.3(LAMC2):c.1242T>A (p.Ile414=)	not provided [RCV000945141]	likely benign	1	183226873	183226873	Human		name
15129278	CV761376	single nucleotide variant	NM_005562.3(LAMC2):c.1422G>A (p.Pro474=)	Junctional epidermolysis bullosa [RCV001098707]\|not provided [RCV000941853]	benign\|likely benign\|uncertain significance	1	183227651	183227651	Human	1	name
15145290	CV761377	single nucleotide variant	NM_005562.3(LAMC2):c.1674C>T (p.Phe558=)	not provided [RCV000944560]	likely benign	1	183228579	183228579	Human		name
15144028	CV761378	single nucleotide variant	NM_005562.3(LAMC2):c.1740A>T (p.Ser580=)	not provided [RCV000944341]	likely benign	1	183230986	183230986	Human		name
15140525	CV761379	single nucleotide variant	NM_005562.3(LAMC2):c.1830A>G (p.Pro610=)	not provided [RCV000943733]	likely benign	1	183231076	183231076	Human		name
15185549	CV761380	single nucleotide variant	NM_005562.3(LAMC2):c.1971G>A (p.Glu657=)	not provided [RCV000931091]	likely benign	1	183232300	183232300	Human		name
15130838	CV761381	single nucleotide variant	NM_005562.3(LAMC2):c.2055G>A (p.Arg685=)	not provided [RCV000942118]	likely benign	1	183232692	183232692	Human		name
15183262	CV761382	single nucleotide variant	NM_005562.3(LAMC2):c.2196A>G (p.Glu732=)	not provided [RCV000930552]	likely benign	1	183232833	183232833	Human		name
15113108	CV761384	single nucleotide variant	NM_005562.3(LAMC2):c.2553C>T (p.Leu851=)	not provided [RCV000939063]	likely benign	1	183236556	183236556	Human		name
15131554	CV761385	single nucleotide variant	NM_005562.3(LAMC2):c.2997C>T (p.Ser999=)	not provided [RCV000942243]	likely benign	1	183239491	183239491	Human		name
15130947	CV780390	single nucleotide variant	NM_005562.3(LAMC2):c.1224G>T (p.Gly408=)	not provided [RCV000981129]	likely benign	1	183226855	183226855	Human		name
15104342	CV780391	single nucleotide variant	NM_005562.3(LAMC2):c.1362C>T (p.His454=)	LAMC2-related disorder [RCV003897974]\|not provided [RCV000976200]	likely benign	1	183227591	183227591	Human	1	name , alternate_id
15117084	CV780392	single nucleotide variant	NM_005562.3(LAMC2):c.2110A>C (p.Arg704=)	not provided [RCV000978702]	likely benign	1	183232747	183232747	Human		name
15135312	CV780393	single nucleotide variant	NM_005562.3(LAMC2):c.2244C>T (p.Tyr748=)	not provided [RCV000981907]	likely benign	1	183234390	183234390	Human		name
15121561	CV780394	single nucleotide variant	NM_005562.3(LAMC2):c.2373A>C (p.Ser791=)	not provided [RCV000979490]	likely benign	1	183235647	183235647	Human		name
15131819	CV780395	single nucleotide variant	NM_005562.3(LAMC2):c.2415C>T (p.Ser805=)	not provided [RCV000981274]	likely benign	1	183235689	183235689	Human		name
15135300	CV780396	single nucleotide variant	NM_005562.3(LAMC2):c.2769G>T (p.Leu923=)	not provided [RCV000981905]	likely benign	1	183238321	183238321	Human		name
28881743	CV862915	single nucleotide variant	NM_005562.3(LAMC2):c.1032A>C (p.Thr344=)	Junctional epidermolysis bullosa [RCV001096967]	uncertain significance	1	183225686	183225686	Human	1	name
28897083	CV862920	single nucleotide variant	NM_005562.3(LAMC2):c.2418T>A (p.Gly806=)	Junctional epidermolysis bullosa [RCV001102466]\|not provided [RCV002067774]	likely benign\|uncertain significance	1	183235692	183235692	Human	1	name
28882066	CV862924	single nucleotide variant	NM_005562.3(LAMC2):c.2658C>G (p.Thr886=)	Junctional epidermolysis bullosa [RCV001097064]	uncertain significance	1	183237408	183237408	Human	1	name
28887570	CV862926	single nucleotide variant	NM_005562.3(LAMC2):c.2994G>C (p.Gly998=)	Junctional epidermolysis bullosa [RCV001098810]\|not provided [RCV002069662]	likely benign\|uncertain significance	1	183239488	183239488	Human	1	name
40889241	CV971637	single nucleotide variant	NM_005562.3(LAMC2):c.219C>A (p.Tyr73Ter)	Junctional epidermolysis bullosa gravis of Herlitz [RCV001264234]	likely pathogenic	1	183208020	183208020	Human	1	name
40889242	CV971638	single nucleotide variant	NM_005562.3(LAMC2):c.288T>A (p.Cys96Ter)	Junctional epidermolysis bullosa gravis of Herlitz [RCV001264235]	likely pathogenic	1	183215472	183215472	Human	1	name
126740410	CV1015594	single nucleotide variant	NM_005562.3(LAMC2):c.343C>T (p.Arg115Ter)	Junctional epidermolysis bullosa gravis of Herlitz [RCV001329430]\|not provided [RCV001390145]	pathogenic	1	183215527	183215527	Human	1	name
126753177	CV1035761	single nucleotide variant	NM_005562.3(LAMC2):c.379G>T (p.Gly127Trp)	Junctional epidermolysis bullosa [RCV001352883]	pathogenic	1	183215563	183215563	Human	1	name
127255449	CV1058487	single nucleotide variant	NM_005562.3(LAMC2):c.945C>G (p.Tyr315Ter)	not provided [RCV001386348]	pathogenic	1	183223316	183223316	Human		name
127264228	CV1058491	deletion	NM_005562.3(LAMC2):c.1432del (p.Glu478fs)	not provided [RCV001388148]	pathogenic	1	183227660	183227660	Human		name
127269572	CV1058493	deletion	NM_005562.3(LAMC2):c.2420del (p.Ser807fs)	not provided [RCV001389561]	pathogenic	1	183235694	183235694	Human		name
127236797	CV1066518	single nucleotide variant	NM_005562.3(LAMC2):c.3000T>C (p.Ala1000=)	not provided [RCV001414738]	likely benign	1	183239494	183239494	Human		name
127231070	CV1066519	single nucleotide variant	NM_005562.3(LAMC2):c.3045G>T (p.Leu1015=)	not provided [RCV001412879]	likely benign	1	183239539	183239539	Human		name
127275174	CV1066521	single nucleotide variant	NM_005562.3(LAMC2):c.3141C>T (p.Ala1047=)	not provided [RCV001406637]	likely benign	1	183240111	183240111	Human		name
127234397	CV1066522	single nucleotide variant	NM_005562.3(LAMC2):c.3276G>A (p.Gly1092=)	not provided [RCV001414199]	likely benign	1	183240339	183240339	Human		name
127273798	CV1066523	single nucleotide variant	NM_005562.3(LAMC2):c.3417G>A (p.Arg1139=)	not provided [RCV001406166]	likely benign	1	183243235	183243235	Human		name
127261625	CV1088242	single nucleotide variant	NM_005562.3(LAMC2):c.3078G>T (p.Gly1026=)	not provided [RCV001428094]	likely benign	1	183240048	183240048	Human		name
127232398	CV1088243	single nucleotide variant	NM_005562.3(LAMC2):c.3309C>T (p.Asp1103=)	not provided [RCV001421299]	likely benign	1	183240372	183240372	Human		name
127251189	CV1088244	single nucleotide variant	NM_005562.3(LAMC2):c.3333G>A (p.Gln1111=)	not provided [RCV001425513]	likely benign	1	183243151	183243151	Human		name
127259270	CV1088245	single nucleotide variant	NM_005562.3(LAMC2):c.3357G>A (p.Gly1119=)	not provided [RCV001438326]	likely benign	1	183243175	183243175	Human		name
127248156	CV1088246	single nucleotide variant	NM_005562.3(LAMC2):c.3363C>T (p.Val1121=)	not provided [RCV001435751]	likely benign	1	183243181	183243181	Human		name
127270902	CV1088247	single nucleotide variant	NM_005562.3(LAMC2):c.3444G>A (p.Arg1148=)	not provided [RCV001441600]	likely benign	1	183243262	183243262	Human		name
127281477	CV1088248	single nucleotide variant	NM_005562.3(LAMC2):c.3513G>A (p.Lys1171=)	not provided [RCV001447186]	likely benign	1	183243331	183243331	Human		name
127251197	CV1088249	single nucleotide variant	NM_005562.3(LAMC2):c.3519G>A (p.Leu1173=)	not provided [RCV001436519]	likely benign	1	183243337	183243337	Human		name
127252633	CV1088250	single nucleotide variant	NM_005562.3(LAMC2):c.3528T>C (p.Ile1176=)	not provided [RCV001425865]	likely benign	1	183243346	183243346	Human		name
127330913	CV1109763	single nucleotide variant	NM_005562.3(LAMC2):c.3036G>A (p.Gly1012=)	not provided [RCV001471234]	likely benign	1	183239530	183239530	Human		name
127288651	CV1109764	single nucleotide variant	NM_005562.3(LAMC2):c.3141C>G (p.Ala1047=)	not provided [RCV001450552]	likely benign	1	183240111	183240111	Human		name
127332496	CV1109765	single nucleotide variant	NM_005562.3(LAMC2):c.3261A>G (p.Arg1087=)	not provided [RCV001472246]	likely benign	1	183240324	183240324	Human		name
127292453	CV1109766	single nucleotide variant	NM_005562.3(LAMC2):c.3462C>G (p.Gly1154=)	not provided [RCV001451765]	likely benign	1	183243280	183243280	Human		name
127328123	CV1130659	single nucleotide variant	NM_005562.3(LAMC2):c.3117C>A (p.Ala1039=)	not provided [RCV001506917]	likely benign	1	183240087	183240087	Human		name
127327451	CV1130660	single nucleotide variant	NM_005562.3(LAMC2):c.3210T>C (p.Asn1070=)	not provided [RCV001486362]	likely benign	1	183240180	183240180	Human		name
127318248	CV1130661	single nucleotide variant	NM_005562.3(LAMC2):c.3270C>T (p.Asn1090=)	not provided [RCV001483466]	likely benign	1	183240333	183240333	Human		name
127296373	CV1130663	single nucleotide variant	NM_005562.3(LAMC2):c.3375G>A (p.Gln1125=)	not provided [RCV001497452]	likely benign	1	183243193	183243193	Human		name
127322776	CV1130664	single nucleotide variant	NM_005562.3(LAMC2):c.3499C>T (p.Leu1167=)	not provided [RCV001505219]	likely benign	1	183243317	183243317	Human		name
150404364	CV1189262	single nucleotide variant	NM_005562.3(LAMC2):c.815A>G (p.Asp272Gly)	Junctional epidermolysis bullosa gravis of Herlitz [RCV001564007]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV001564008]	uncertain significance	1	183223186	183223186	Human	2	name
151348976	CV1324294	deletion	NM_005562.3(LAMC2):c.1043del (p.Ile348fs)	Junctional epidermolysis bullosa, non-Herlitz type [RCV001808211]	pathogenic	1	183225697	183225697	Human	1	name
151724556	CV1350862	deletion	NM_005562.3(LAMC2):c.1515del (p.Phe505fs)	not provided [RCV001891557]	pathogenic	1	183228418	183228418	Human		name
151755728	CV1426002	deletion	NM_005562.3(LAMC2):c.1597del (p.Arg533fs)	not provided [RCV002007309]	pathogenic	1	183228501	183228501	Human		name
151754493	CV1429626	single nucleotide variant	NM_005562.3(LAMC2):c.664C>T (p.Gln222Ter)	not provided [RCV002007192]	pathogenic	1	183222112	183222112	Human		name
151771256	CV1431273	deletion	NM_005562.3(LAMC2):c.1002del (p.Phe334fs)	not provided [RCV001914996]	pathogenic	1	183225654	183225654	Human		name
151821105	CV1453530	single nucleotide variant	NM_005562.3(LAMC2):c.725C>G (p.Ser242Ter)	not provided [RCV001879221]	pathogenic	1	183222173	183222173	Human		name
151773668	CV1461683	deletion	NM_005562.3(LAMC2):c.2423del (p.Pro808fs)	not provided [RCV001950402]	pathogenic	1	183235695	183235695	Human		name
151825278	CV1507099	single nucleotide variant	NM_005562.3(LAMC2):c.847T>C (p.Ser283Pro)	not provided [RCV001955156]	uncertain significance	1	183223218	183223218	Human		name
151873470	CV1513824	deletion	NM_005562.3(LAMC2):c.2565del (p.Ser856fs)	not provided [RCV001940108]	pathogenic	1	183236568	183236568	Human		name
152051038	CV1527870	single nucleotide variant	NM_005562.3(LAMC2):c.3219A>C (p.Ala1073=)	not provided [RCV002089163]	likely benign	1	183240189	183240189	Human		name
152169604	CV1529278	single nucleotide variant	NM_005562.3(LAMC2):c.3447A>G (p.Ala1149=)	not provided [RCV002161499]	likely benign	1	183243265	183243265	Human		name
152092084	CV1530751	single nucleotide variant	NM_005562.3(LAMC2):c.3408C>T (p.Ser1136=)	not provided [RCV002114212]	likely benign	1	183243226	183243226	Human		name
152127492	CV1545116	single nucleotide variant	NM_005562.3(LAMC2):c.3540G>T (p.Leu1180=)	not provided [RCV002155071]	likely benign	1	183243358	183243358	Human		name
152111601	CV1552519	single nucleotide variant	NM_005562.3(LAMC2):c.3078G>A (p.Gly1026=)	not provided [RCV002134556]	likely benign	1	183240048	183240048	Human		name
152083521	CV1565298	single nucleotide variant	NM_005562.3(LAMC2):c.3396C>G (p.Thr1132=)	not provided [RCV002093166]	likely benign	1	183243214	183243214	Human		name
152127733	CV1572124	single nucleotide variant	NM_005562.3(LAMC2):c.3360G>A (p.Leu1120=)	not provided [RCV002217637]	likely benign	1	183243178	183243178	Human		name
152128329	CV1572236	single nucleotide variant	NM_005562.3(LAMC2):c.3219A>G (p.Ala1073=)	not provided [RCV002217717]	likely benign	1	183240189	183240189	Human		name
152127874	CV1573805	single nucleotide variant	NM_005562.3(LAMC2):c.3237A>C (p.Thr1079=)	not provided [RCV002155119]	likely benign	1	183240300	183240300	Human		name
152057154	CV1588408	single nucleotide variant	NM_005562.3(LAMC2):c.3555C>T (p.Tyr1185=)	not provided [RCV002190103]	likely benign	1	183243373	183243373	Human		name
152086954	CV1589892	single nucleotide variant	NM_005562.3(LAMC2):c.3042C>A (p.Ala1014=)	not provided [RCV002193756]	likely benign	1	183239536	183239536	Human		name
152077954	CV1601996	single nucleotide variant	NM_005562.3(LAMC2):c.3294A>T (p.Thr1098=)	not provided [RCV002148938]	likely benign	1	183240357	183240357	Human		name
152105924	CV1612687	single nucleotide variant	NM_005562.3(LAMC2):c.3432G>A (p.Glu1144=)	not provided [RCV002173713]	likely benign	1	183243250	183243250	Human		name
152122625	CV1613578	single nucleotide variant	NM_005562.3(LAMC2):c.741C>G (p.Asp247Glu)	not provided [RCV002081767]	likely benign	1	183222189	183222189	Human		name
152082814	CV1641589	single nucleotide variant	NM_005562.3(LAMC2):c.3384C>G (p.Ser1128=)	not provided [RCV002211642]	likely benign	1	183243202	183243202	Human		name
152040273	CV1644562	single nucleotide variant	NM_005562.3(LAMC2):c.3529A>C (p.Arg1177=)	not provided [RCV002165583]	likely benign	1	183243347	183243347	Human		name
152137631	CV1652388	single nucleotide variant	NM_005562.3(LAMC2):c.3096C>T (p.Ala1032=)	not provided [RCV002083726]	likely benign	1	183240066	183240066	Human		name
152169421	CV1661435	single nucleotide variant	NM_005562.3(LAMC2):c.3579G>A (p.Gln1193=)	not provided [RCV002142783]	likely benign	1	183243397	183243397	Human		name
152125739	CV1665835	single nucleotide variant	NM_005562.3(LAMC2):c.3030G>A (p.Gly1010=)	not provided [RCV002198648]	likely benign	1	183239524	183239524	Human		name
155723066	CV1781550	deletion	NM_005562.3(LAMC2):c.1796del (p.Gly599fs)	Junctional epidermolysis bullosa gravis of Herlitz [RCV002306578]	likely pathogenic	1	183231041	183231041	Human	1	name
155723799	CV1781676	deletion	NM_005562.3(LAMC2):c.2898del (p.Ala967fs)	Junctional epidermolysis bullosa gravis of Herlitz [RCV002306704]	likely pathogenic	1	183239389	183239389	Human	1	name
155728915	CV1782605	single nucleotide variant	NM_005562.3(LAMC2):c.927T>A (p.Cys309Ter)	Junctional epidermolysis bullosa gravis of Herlitz [RCV002308137]	likely pathogenic	1	183223298	183223298	Human	1	name
155729218	CV1782719	deletion	NM_005562.3(LAMC2):c.2738del (p.Gly913fs)	Junctional epidermolysis bullosa gravis of Herlitz [RCV002308251]	likely pathogenic	1	183237487	183237487	Human	1	name
155729366	CV1782768	deletion	NM_005562.3(LAMC2):c.1347del (p.Tyr450fs)	Junctional epidermolysis bullosa gravis of Herlitz [RCV002308300]	likely pathogenic	1	183227576	183227576	Human	1	name
155725288	CV1783543	deletion	NM_005562.3(LAMC2):c.1907del (p.Lys636fs)	Junctional epidermolysis bullosa gravis of Herlitz [RCV002306987]	likely pathogenic	1	183232234	183232234	Human	1	name
155725576	CV1783601	duplication	NM_005562.3(LAMC2):c.2213dup (p.Asn739fs)	Junctional epidermolysis bullosa gravis of Herlitz [RCV002307045]	likely pathogenic	1	183232847	183232848	Human	1	name
155725586	CV1783603	duplication	NM_005562.3(LAMC2):c.2631dup (p.Ala878fs)	Junctional epidermolysis bullosa gravis of Herlitz [RCV002307047]	likely pathogenic	1	183237376	183237377	Human	1	name
155725836	CV1783652	duplication	NM_005562.3(LAMC2):c.2362dup (p.Gln788fs)	Junctional epidermolysis bullosa gravis of Herlitz [RCV002307096]	likely pathogenic	1	183235635	183235636	Human	1	name
10041408	CV186608	single nucleotide variant	NM_005562.3(LAMC2):c.667C>T (p.Arg223Ter)	Epidermolysis bullosa, junctional 3A, intermediate [RCV005008088]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV000169121]\|not provided [RCV001201907]	pathogenic\|likely pathogenic	1	183222115	183222115	Human	2	name
155955192	CV1876669	single nucleotide variant	NM_005562.3(LAMC2):c.643G>A (p.Val215Ile)	not provided [RCV003074374]	uncertain significance	1	183222091	183222091	Human		name
156414374	CV1901801	single nucleotide variant	NM_005562.3(LAMC2):c.3264C>A (p.Ala1088=)	not provided [RCV002588574]	likely benign	1	183240327	183240327	Human		name
156437388	CV1937531	single nucleotide variant	NM_005562.3(LAMC2):c.3207G>A (p.Thr1069=)	not provided [RCV003106923]	likely benign	1	183240177	183240177	Human		name
156446169	CV1951203	single nucleotide variant	NM_005562.3(LAMC2):c.3543C>T (p.Pro1181=)	not provided [RCV003117135]	likely benign	1	183243361	183243361	Human		name
156312980	CV1969890	single nucleotide variant	NM_005562.3(LAMC2):c.3174A>G (p.Gly1058=)	not provided [RCV002578797]	likely benign	1	183240144	183240144	Human		name
155958701	CV2029726	single nucleotide variant	NM_005562.3(LAMC2):c.395A>G (p.Gln132Arg)	not provided [RCV002731068]	uncertain significance	1	183215579	183215579	Human		name
156328405	CV2050460	deletion	NM_005562.3(LAMC2):c.2283del (p.Thr762fs)	not provided [RCV002810531]	pathogenic	1	183234428	183234428	Human		name
156291124	CV2055250	duplication	NM_005562.3(LAMC2):c.1721dup (p.Asn574fs)	not provided [RCV002833209]	pathogenic	1	183230965	183230966	Human		name
155927338	CV2070905	single nucleotide variant	NM_005562.3(LAMC2):c.799C>T (p.Gln267Ter)	not provided [RCV002838590]	pathogenic	1	183223170	183223170	Human		name
156216382	CV2084481	single nucleotide variant	NM_005562.3(LAMC2):c.3099T>C (p.Asn1033=)	not provided [RCV002853035]	likely benign	1	183240069	183240069	Human		name
156214700	CV2085192	deletion	NM_005562.3(LAMC2):c.1175del (p.Phe392fs)	not provided [RCV002893941]	pathogenic	1	183226805	183226805	Human		name
156026493	CV2116514	single nucleotide variant	NM_005562.3(LAMC2):c.3363C>G (p.Val1121=)	not provided [RCV002923315]	likely benign	1	183243181	183243181	Human		name
156225398	CV2121780	single nucleotide variant	NM_005562.3(LAMC2):c.433G>A (p.Gly145Ser)	not provided [RCV002958305]	uncertain significance	1	183218418	183218418	Human		name
156309411	CV2123323	single nucleotide variant	NM_005562.3(LAMC2):c.832G>C (p.Gly278Arg)	Inborn genetic diseases [RCV002962530]\|not provided [RCV002962531]	uncertain significance	1	183223203	183223203	Human	1	name
156050182	CV2140757	deletion	NM_005562.3(LAMC2):c.2595del (p.Gln867fs)	not provided [RCV002999846]	pathogenic	1	183236597	183236597	Human		name
155928672	CV2145318	single nucleotide variant	NM_005562.3(LAMC2):c.3462C>T (p.Gly1154=)	not provided [RCV003013528]	likely benign	1	183243280	183243280	Human		name
155969255	CV2152425	deletion	NM_005562.3(LAMC2):c.2615del (p.Lys872fs)	not provided [RCV003015854]	pathogenic	1	183237363	183237363	Human		name
156016320	CV2155032	single nucleotide variant	NM_005562.3(LAMC2):c.3297C>G (p.Leu1099=)	not provided [RCV003018010]	likely benign	1	183240360	183240360	Human		name
156074938	CV2165460	single nucleotide variant	NM_005562.3(LAMC2):c.3177G>A (p.Glu1059=)	not provided [RCV003037686]	likely benign	1	183240147	183240147	Human		name
156150264	CV2175299	single nucleotide variant	NM_005562.3(LAMC2):c.3234T>C (p.Ile1078=)	not provided [RCV003040347]	likely benign	1	183240297	183240297	Human		name
156233002	CV2197090	single nucleotide variant	NM_005562.3(LAMC2):c.931C>G (p.Leu311Val)	Inborn genetic diseases [RCV002645076]	uncertain significance	1	183223302	183223302	Human	1	name
156130169	CV2209955	single nucleotide variant	NM_005562.3(LAMC2):c.704G>A (p.Arg235His)	Inborn genetic diseases [RCV002696400]	uncertain significance	1	183222152	183222152	Human	1	name
155978399	CV2222682	single nucleotide variant	NM_005562.3(LAMC2):c.598G>T (p.Ala200Ser)	Inborn genetic diseases [RCV002732243]	uncertain significance	1	183220919	183220919	Human	1	name
156252632	CV2268407	single nucleotide variant	NM_005562.3(LAMC2):c.311G>A (p.Cys104Tyr)	Inborn genetic diseases [RCV002831217]	uncertain significance	1	183215495	183215495	Human	1	name
156040178	CV2279096	single nucleotide variant	NM_005562.3(LAMC2):c.509G>A (p.Arg170Gln)	Inborn genetic diseases [RCV002846009]	uncertain significance	1	183220830	183220830	Human	1	name
156251962	CV2286908	single nucleotide variant	NM_005562.3(LAMC2):c.494G>A (p.Arg165His)	Inborn genetic diseases [RCV002854891]	uncertain significance	1	183218479	183218479	Human	1	name
156185840	CV2294979	single nucleotide variant	NM_005562.3(LAMC2):c.400C>G (p.Leu134Val)	Inborn genetic diseases [RCV002892241]	uncertain significance	1	183215584	183215584	Human	1	name
156179271	CV2298365	single nucleotide variant	NM_005562.3(LAMC2):c.767A>T (p.Lys256Ile)	Inborn genetic diseases [RCV002891875]	uncertain significance	1	183223138	183223138	Human	1	name
156111025	CV2353304	single nucleotide variant	NM_005562.3(LAMC2):c.302G>A (p.Arg101Gln)	Inborn genetic diseases [RCV002980599]	uncertain significance	1	183215486	183215486	Human	1	name
243054326	CV2413026	single nucleotide variant	NM_005562.3(LAMC2):c.614A>G (p.His205Arg)	not provided [RCV003131459]	uncertain significance	1	183220935	183220935	Human		name
329373770	CV2452654	single nucleotide variant	NM_005562.3(LAMC2):c.499G>C (p.Asp167His)	Inborn genetic diseases [RCV003210592]	uncertain significance	1	183218484	183218484	Human	1	name
329398630	CV2471097	single nucleotide variant	NM_005562.3(LAMC2):c.430G>C (p.Ala144Pro)	Inborn genetic diseases [RCV003196138]	uncertain significance	1	183218415	183218415	Human	1	name
11545946	CV249580	single nucleotide variant	NM_005562.3(LAMC2):c.3367C>T (p.Leu1123=)	Junctional epidermolysis bullosa [RCV000305811]\|not provided [RCV001521608]\|not specified [RCV000245823]	benign\|likely benign	1	183243185	183243185	Human	1	name
11636520	CV274805	single nucleotide variant	NM_005562.3(LAMC2):c.493C>T (p.Arg165Cys)	Amelogenesis imperfecta type 1 [RCV003153552]\|Junctional epidermolysis bullosa [RCV001100402]\|LAMC2-related disorder [RCV003967800]\|not provided [RCV000950067]\|not specified [RCV000270360]	likely benign\|uncertain significance	1	183218478	183218478	Human	3	name , alternate_id
11580796	CV274812	single nucleotide variant	NM_005562.3(LAMC2):c.889A>G (p.Thr297Ala)	Junctional epidermolysis bullosa [RCV000344539]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV001526765]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV005396901]\|LAMC2-related disorder [RCV004752834]\|not provided [RCV000278722]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	183223260	183223260	Human	5	name , alternate_id
11581473	CV277650	single nucleotide variant	NM_005562.3(LAMC2):c.407A>T (p.Asp136Val)	Junctional epidermolysis bullosa [RCV000371176]\|LAMC2-related disorder [RCV004752838]\|not provided [RCV000894679]	benign\|likely benign	1	183218392	183218392	Human	2	name , alternate_id
11577616	CV277651	single nucleotide variant	NM_005562.3(LAMC2):c.509G>T (p.Arg170Leu)	Inborn genetic diseases [RCV005365230]\|Junctional epidermolysis bullosa [RCV000263916]\|LAMC2-related disorder [RCV003977824]\|not provided [RCV000893201]	likely benign\|uncertain significance	1	183220830	183220830	Human	3	name , alternate_id
11579921	CV277652	single nucleotide variant	NM_005562.3(LAMC2):c.589C>T (p.Arg197Cys)	Junctional epidermolysis bullosa [RCV000316728]\|not provided [RCV000895622]	likely benign\|uncertain significance	1	183220910	183220910	Human	1	name
11578648	CV277667	single nucleotide variant	NM_005562.3(LAMC2):c.741C>A (p.Asp247Glu)	Junctional epidermolysis bullosa [RCV000286326]\|not provided [RCV001516567]	benign\|likely benign	1	183222189	183222189	Human	1	name
11577984	CV277675	single nucleotide variant	NM_005562.3(LAMC2):c.3546A>G (p.Pro1182=)	Junctional epidermolysis bullosa [RCV000271796]\|LAMC2-related disorder [RCV003920187]\|not provided [RCV000882200]	benign\|likely benign\|uncertain significance	1	183243364	183243364	Human	2	name , alternate_id
11582253	CV277786	single nucleotide variant	NM_005562.3(LAMC2):c.344G>A (p.Arg115Gln)	Junctional epidermolysis bullosa [RCV000404335]\|not provided [RCV000949471]	benign\|likely benign	1	183215528	183215528	Human	1	name
11581894	CV277809	single nucleotide variant	NM_005562.3(LAMC2):c.3000T>A (p.Ala1000=)	Junctional epidermolysis bullosa [RCV000388881]\|not provided [RCV000961331]	benign\|uncertain significance	1	183239494	183239494	Human	1	name
11579318	CV277812	single nucleotide variant	NM_005562.3(LAMC2):c.3246G>A (p.Gln1082=)	Junctional epidermolysis bullosa [RCV000300667]\|not provided [RCV000982340]	likely benign\|uncertain significance	1	183240309	183240309	Human	1	name
401894325	CV2780688	single nucleotide variant	NM_005562.3(LAMC2):c.895C>A (p.Pro299Thr)	Inborn genetic diseases [RCV003371379]	uncertain significance	1	183223266	183223266	Human	1	name
11579845	CV278715	single nucleotide variant	NM_005562.3(LAMC2):c.371C>T (p.Thr124Met)	Junctional epidermolysis bullosa [RCV000314195]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV001537728]\|Junctional epidermolysis bullosa, non-Herlitz type [RCV001537729]\|not provided [RCV001513112]	benign\|likely benign	1	183215555	183215555	Human	3	name
11581637	CV278717	single nucleotide variant	NM_005562.3(LAMC2):c.739G>C (p.Asp247His)	Inborn genetic diseases [RCV004021381]\|Junctional epidermolysis bullosa [RCV000378412]	uncertain significance	1	183222187	183222187	Human	2	name
11578801	CV278728	single nucleotide variant	NM_005562.3(LAMC2):c.884G>A (p.Arg295Gln)	Junctional epidermolysis bullosa [RCV000289606]\|LAMC2-related disorder [RCV003930211]\|not provided [RCV000892980]	benign\|likely benign\|uncertain significance	1	183223255	183223255	Human	2	name , alternate_id
11659706	CV278751	single nucleotide variant	NM_005562.3(LAMC2):c.3411A>G (p.Gln1137=)	Junctional epidermolysis bullosa [RCV000360646]\|not provided [RCV003660776]	likely benign\|uncertain significance	1	183243229	183243229	Human	1	name
11579561	CV278760	single nucleotide variant	NM_005562.3(LAMC2):c.3459G>A (p.Arg1153=)	Junctional epidermolysis bullosa [RCV000306823]\|LAMC2-related disorder [RCV003930213]\|not provided [RCV000897892]	benign\|likely benign\|uncertain significance	1	183243277	183243277	Human	2	name , alternate_id
11581249	CV278798	single nucleotide variant	NM_005562.3(LAMC2):c.331G>C (p.Ala111Pro)	Junctional epidermolysis bullosa [RCV000362799]\|not provided [RCV000946536]	benign\|likely benign	1	183215515	183215515	Human	3	name
11581249	CV278798	single nucleotide variant	NM_005562.3(LAMC2):c.331G>C (p.Ala111Pro)	Junctional epidermolysis bullosa [RCV000362799]\|not provided [RCV000946536]	benign\|likely benign	1	183215515	183215516	Human	3	name
11580564	CV278816	single nucleotide variant	NM_005562.3(LAMC2):c.3273T>G (p.Ala1091=)	Junctional epidermolysis bullosa [RCV000336937]\|not provided [RCV001490140]	likely benign\|uncertain significance	1	183240336	183240336	Human	1	name
401869926	CV2792223	single nucleotide variant	NM_005562.3(LAMC2):c.770T>A (p.Phe257Tyr)	Inborn genetic diseases [RCV003381073]	uncertain significance	1	183223141	183223141	Human	1	name
405167761	CV2857776	single nucleotide variant	NM_005562.3(LAMC2):c.3498T>A (p.Ile1166=)	not provided [RCV003541923]	likely benign	1	183243316	183243316	Human		name
405080915	CV2864737	single nucleotide variant	NM_005562.3(LAMC2):c.653G>A (p.Trp218Ter)	not provided [RCV003549224]	pathogenic	1	183222101	183222101	Human		name
405185524	CV2921266	single nucleotide variant	NM_005562.3(LAMC2):c.3477G>A (p.Leu1159=)	not provided [RCV003564417]	likely benign	1	183243295	183243295	Human		name
405036335	CV2932742	deletion	NM_005562.3(LAMC2):c.2426del (p.Asp809fs)	not provided [RCV003578732]	pathogenic	1	183235700	183235700	Human		name
405075832	CV2940769	single nucleotide variant	NM_005562.3(LAMC2):c.3141C>A (p.Ala1047=)	not provided [RCV003659695]	likely benign	1	183240111	183240111	Human		name
405067064	CV2944553	single nucleotide variant	NM_005562.3(LAMC2):c.3054C>T (p.Ser1018=)	not provided [RCV003663750]	likely benign	1	183239548	183239548	Human		name
8599860	CV29598	single nucleotide variant	NM_005562.3(LAMC2):c.733C>T (p.Arg245Ter)	Epidermolysis bullosa, junctional 3A, intermediate [RCV002051626]\|Junctional epidermolysis bullosa [RCV000778201]\|not provided [RCV001055824]	pathogenic\|likely pathogenic	1	183222181	183222181	Human	2	name
405197501	CV2972861	deletion	NM_005562.3(LAMC2):c.2425del (p.Asp809fs)	not provided [RCV003677825]	pathogenic	1	183235698	183235698	Human		name
405198258	CV2973056	single nucleotide variant	NM_005562.3(LAMC2):c.3415C>A (p.Arg1139=)	not provided [RCV003677911]	likely benign	1	183243233	183243233	Human		name
405227872	CV2980563	single nucleotide variant	NM_005562.3(LAMC2):c.3348T>C (p.Asp1116=)	not provided [RCV003711017]	likely benign	1	183243166	183243166	Human		name
405230682	CV2987558	single nucleotide variant	NM_005562.3(LAMC2):c.3417G>T (p.Arg1139=)	not provided [RCV003711469]	likely benign	1	183243235	183243235	Human		name
405240164	CV2993652	single nucleotide variant	NM_005562.3(LAMC2):c.3492T>C (p.Asp1164=)	not provided [RCV003719027]	likely benign	1	183243310	183243310	Human		name
405119952	CV2993942	single nucleotide variant	NM_005562.3(LAMC2):c.3145C>T (p.Leu1049=)	not provided [RCV003723777]	likely benign	1	183240115	183240115	Human		name
405115259	CV2996315	single nucleotide variant	NM_005562.3(LAMC2):c.3316C>T (p.Leu1106=)	not provided [RCV003723287]	likely benign	1	183240379	183240379	Human		name
405128075	CV3013987	single nucleotide variant	NM_005562.3(LAMC2):c.3385C>A (p.Arg1129=)	not provided [RCV003701410]	likely benign	1	183243203	183243203	Human		name
405116610	CV3020195	deletion	NM_005562.3(LAMC2):c.2842del (p.Val948fs)	not provided [RCV003700308]	pathogenic	1	183238394	183238394	Human		name
405161550	CV3021531	single nucleotide variant	NM_005562.3(LAMC2):c.3561C>T (p.Thr1187=)	not provided [RCV003703946]	likely benign	1	183243379	183243379	Human		name
405147007	CV3067291	single nucleotide variant	NM_005562.3(LAMC2):c.3048A>G (p.Glu1016=)	not provided [RCV003726135]	likely benign	1	183239542	183239542	Human		name
405198630	CV3132190	deletion	NM_005562.3(LAMC2):c.2208del (p.Leu737fs)	not provided [RCV003821783]	pathogenic	1	183232844	183232844	Human		name
405211738	CV3173510	single nucleotide variant	NM_005562.3(LAMC2):c.3255T>C (p.Asp1085=)	not provided [RCV003862259]	likely benign	1	183240318	183240318	Human		name
405814800	CV3287393	single nucleotide variant	NM_005562.3(LAMC2):c.377C>T (p.Ala126Val)	Inborn genetic diseases [RCV004410022]	uncertain significance	1	183215561	183215561	Human	1	name
405814802	CV3287394	single nucleotide variant	NM_005562.3(LAMC2):c.460C>T (p.Arg154Cys)	Inborn genetic diseases [RCV004410023]	uncertain significance	1	183218445	183218445	Human	1	name
405814807	CV3287396	single nucleotide variant	NM_005562.3(LAMC2):c.803G>C (p.Ser268Thr)	Inborn genetic diseases [RCV004410025]	uncertain significance	1	183223174	183223174	Human	1	name
405814809	CV3287397	single nucleotide variant	NM_005562.3(LAMC2):c.910G>A (p.Gly304Ser)	Inborn genetic diseases [RCV004410026]	uncertain significance	1	183223281	183223281	Human	1	name
407481690	CV3456242	single nucleotide variant	NM_005562.3(LAMC2):c.820C>T (p.Arg274Cys)	Inborn genetic diseases [RCV004639998]	uncertain significance	1	183223191	183223191	Human	1	name
12740458	CV357015	single nucleotide variant	NM_005562.3(LAMC2):c.709C>T (p.Gln237Ter)	Junctional epidermolysis bullosa gravis of Herlitz [RCV000412046]	likely pathogenic	1	183222157	183222157	Human	1	name
12740545	CV357021	deletion	NM_005562.3(LAMC2):c.2348del (p.Glu783fs)	Junctional epidermolysis bullosa gravis of Herlitz [RCV000412295]\|not provided [RCV001051223]	pathogenic\|likely pathogenic	1	183235622	183235622	Human	1	name
597696284	CV3701406	single nucleotide variant	NM_005562.3(LAMC2):c.490G>A (p.Glu164Lys)	Inborn genetic diseases [RCV004986477]	uncertain significance	1	183218475	183218475	Human	1	name
597703538	CV3714058	duplication	NM_005562.3(LAMC2):c.1700dup (p.Asp568fs)	Epidermolysis bullosa, junctional 3A, intermediate [RCV005009013]	likely pathogenic	1	183228604	183228605	Human	1	name
597704033	CV3714098	deletion	NM_005562.3(LAMC2):c.2281del (p.Ala761fs)	Epidermolysis bullosa, junctional 3A, intermediate [RCV005009060]	likely pathogenic	1	183234426	183234426	Human	1	name
597704232	CV3714112	deletion	NM_005562.3(LAMC2):c.2571del (p.Leu858fs)	Epidermolysis bullosa, junctional 3A, intermediate [RCV005009079]	likely pathogenic	1	183236573	183236573	Human	1	name
597704290	CV3714116	duplication	NM_005562.3(LAMC2):c.2699dup (p.Asn901fs)	Epidermolysis bullosa, junctional 3A, intermediate [RCV005009084]	likely pathogenic	1	183237446	183237447	Human	1	name
597704357	CV3714120	deletion	NM_005562.3(LAMC2):c.2699del (p.Gly900fs)	Epidermolysis bullosa, junctional 3A, intermediate [RCV005009090]	likely pathogenic	1	183237447	183237447	Human	1	name
597704416	CV3714125	deletion	NM_005562.3(LAMC2):c.2732del (p.Gln911fs)	Epidermolysis bullosa, junctional 3A, intermediate [RCV005009095]	likely pathogenic	1	183237482	183237482	Human	1	name
597880447	CV3744822	single nucleotide variant	NM_005562.3(LAMC2):c.3072G>A (p.Glu1024=)	not provided [RCV005069847]	likely benign	1	183240042	183240042	Human		name
598197408	CV3987539	single nucleotide variant	NM_005562.3(LAMC2):c.709C>A (p.Gln237Lys)	Inborn genetic diseases [RCV005355353]	uncertain significance	1	183222157	183222157	Human	1	name
598174210	CV3987540	single nucleotide variant	NM_005562.3(LAMC2):c.343C>G (p.Arg115Gly)	Inborn genetic diseases [RCV005371083]	uncertain significance	1	183215527	183215527	Human	1	name
598229426	CV3987543	single nucleotide variant	NM_005562.3(LAMC2):c.377C>G (p.Ala126Gly)	Inborn genetic diseases [RCV005362534]	uncertain significance	1	183215561	183215561	Human	1	name
598174236	CV3987551	single nucleotide variant	NM_005562.3(LAMC2):c.427C>A (p.Pro143Thr)	Inborn genetic diseases [RCV005371089]	uncertain significance	1	183218412	183218412	Human	1	name
598229427	CV3987554	single nucleotide variant	NM_005562.3(LAMC2):c.841C>T (p.His281Tyr)	Inborn genetic diseases [RCV005362535]	uncertain significance	1	183223212	183223212	Human	1	name
598200505	CV4007458	single nucleotide variant	NM_005562.3(LAMC2):c.961G>A (p.Glu321Lys)	Junctional epidermolysis bullosa gravis of Herlitz [RCV005398288]	uncertain significance	1	183225615	183225615	Human	1	name
13789070	CV540712	single nucleotide variant	NM_005562.3(LAMC2):c.301C>T (p.Arg101Trp)	Junctional epidermolysis bullosa gravis of Herlitz [RCV000665762]	uncertain significance	1	183215485	183215485	Human	1	name
13788972	CV540728	single nucleotide variant	NM_005562.3(LAMC2):c.883C>T (p.Arg295Trp)	Junctional epidermolysis bullosa gravis of Herlitz [RCV000674255]\|not provided [RCV000889881]	likely benign\|uncertain significance	1	183223254	183223254	Human	1	name
13787562	CV540731	deletion	NM_005562.3(LAMC2):c.1257del (p.Gly421fs)	Junctional epidermolysis bullosa gravis of Herlitz [RCV000664915]	likely pathogenic	1	183226887	183226887	Human	1	name
15141502	CV731912	single nucleotide variant	NM_005562.3(LAMC2):c.3354G>A (p.Glu1118=)	Junctional epidermolysis bullosa [RCV001100631]\|not provided [RCV000899507]	benign\|likely benign\|uncertain significance	1	183243172	183243172	Human	1	name
15112265	CV745880	single nucleotide variant	NM_005562.3(LAMC2):c.599C>A (p.Ala200Glu)	Junctional epidermolysis bullosa [RCV001102369]\|LAMC2-related disorder [RCV003913069]\|not provided [RCV000916881]	benign\|likely benign\|uncertain significance	1	183220920	183220920	Human	2	name , alternate_id
15147098	CV761371	single nucleotide variant	NM_005562.3(LAMC2):c.679C>T (p.Pro227Ser)	not provided [RCV000944855]	benign	1	183222127	183222127	Human		name
15148582	CV761387	single nucleotide variant	NM_005562.3(LAMC2):c.3321T>C (p.His1107=)	not provided [RCV000945142]	likely benign	1	183240384	183240384	Human		name
15139453	CV780397	single nucleotide variant	NM_005562.3(LAMC2):c.3522G>A (p.Glu1174=)	not provided [RCV000982641]	likely benign	1	183243340	183243340	Human		name
26914433	CV823041	single nucleotide variant	NM_005562.3(LAMC2):c.508C>T (p.Arg170Ter)	Junctional epidermolysis bullosa [RCV005418956]\|not provided [RCV001037528]	pathogenic\|likely pathogenic	1	183220829	183220829	Human	1	name
26902073	CV823045	duplication	NM_005562.3(LAMC2):c.2489dup (p.Leu830fs)	Junctional epidermolysis bullosa [RCV001352887]\|not provided [RCV001069052]	pathogenic	1	183236490	183236491	Human	1	name
8629145	CV84290	single nucleotide variant	NM_005562.2(LAMC2):c.3231G>A (p.Val1077=)	Malignant melanoma [RCV000064372]	not provided	1	183240294	183240294	Human		name
28892010	CV862912	single nucleotide variant	NM_005562.3(LAMC2):c.461G>A (p.Arg154His)	Junctional epidermolysis bullosa [RCV001100401]	uncertain significance	1	183218446	183218446	Human	1	name
28892014	CV862913	single nucleotide variant	NM_005562.3(LAMC2):c.590G>A (p.Arg197His)	Inborn genetic diseases [RCV002556029]\|Junctional epidermolysis bullosa [RCV001100403]	likely benign\|uncertain significance	1	183220911	183220911	Human	2	name
28887574	CV862927	single nucleotide variant	NM_005562.3(LAMC2):c.3033C>T (p.Ala1011=)	Junctional epidermolysis bullosa [RCV001098811]\|not provided [RCV001406635]	likely benign\|uncertain significance	1	183239527	183239527	Human	1	name
38474445	CV941593	duplication	NM_005562.3(LAMC2):c.1861dup (p.Asp621fs)	not provided [RCV001232216]	pathogenic	1	183232188	183232189	Human		name
40889243	CV971639	single nucleotide variant	NM_005562.3(LAMC2):c.388C>T (p.Gln130Ter)	Junctional epidermolysis bullosa gravis of Herlitz [RCV001264236]	likely pathogenic	1	183215572	183215572	Human	1	name
8624821	CV79936	single nucleotide variant	NM_005562.2(LAMC2):c.2984G>A (p.Arg995Lys)	Malignant melanoma [RCV000060012]	not provided	1	183239478	183239478	Human		name
40888656	CV971645	single nucleotide variant	NM_005562.3(LAMC2):c.2719C>T (p.Gln907Ter)	Junctional epidermolysis bullosa gravis of Herlitz [RCV001263666]	likely pathogenic	1	183237469	183237469	Human	1	name
127243819	CV1058488	single nucleotide variant	NM_005562.3(LAMC2):c.1009C>T (p.Arg337Ter)	LAMC2-related disorder [RCV004753302]\|not provided [RCV001384096]	pathogenic\|likely pathogenic	1	183225663	183225663	Human	1	alternate_id
11579187	CV277672	single nucleotide variant	NM_005562.3(LAMC2):c.1637C>A (p.Ala546Asp)	Junctional epidermolysis bullosa [RCV000297471]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV001526748]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV005396912]\|LAMC2-related disorder [RCV003930212]\|not provided [RCV000954849]	likely benign\|uncertain significance	1	183228542	183228542	Human	5	alternate_id
11577804	CV277673	single nucleotide variant	NM_005562.3(LAMC2):c.2387C>T (p.Ala796Val)	Junctional epidermolysis bullosa [RCV000267778]\|LAMC2-related disorder [RCV003957535]\|not provided [RCV000962931]	likely benign\|uncertain significance	1	183235661	183235661	Human	2	alternate_id
11580105	CV278815	single nucleotide variant	NM_005562.3(LAMC2):c.2570G>C (p.Arg857Pro)	Junctional epidermolysis bullosa [RCV000322934]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV005396913]\|LAMC2-related disorder [RCV003920186]\|not provided [RCV000969775]	benign\|likely benign\|uncertain significance	1	183236573	183236573	Human	5	alternate_id
405267705	CV3202622	single nucleotide variant	NM_005562.3(LAMC2):c.1796G>T (p.Gly599Val)	LAMC2-related disorder [RCV003911844]\|not provided [RCV005064785]	likely benign\|uncertain significance	1	183231042	183231042	Human	1	alternate_id
12739565	CV357010	duplication	NM_005562.3(LAMC2):c.146_150dup (p.Phe51fs)	Epidermolysis bullosa, junctional 3A, intermediate [RCV005010296]\|Junctional epidermolysis bullosa gravis of Herlitz [RCV000409895]\|LAMC2-related disorder [RCV003392226]\|not provided [RCV001850972]	pathogenic\|likely pathogenic	1	183207945	183207946	Human	4	alternate_id
15148924	CV731911	single nucleotide variant	NM_005562.3(LAMC2):c.2150G>A (p.Arg717Gln)	LAMC2-related disorder [RCV003910746]\|not provided [RCV000900823]	benign\|likely benign	1	183232787	183232787	Human	1	alternate_id
15203347	CV745883	single nucleotide variant	NM_005562.3(LAMC2):c.1262G>A (p.Gly421Glu)	Junctional epidermolysis bullosa [RCV001098705]\|LAMC2-related disorder [RCV003923196]\|not provided [RCV000913891]	likely benign	1	183226893	183226893	Human	2	alternate_id

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