Ecm1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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143 records found for search term Ecm1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8559944	CV22513	deletion	ECM1, 1-BP DEL, 507T	Lipid proteinosis [RCV000007900]	pathogenic				Human		name
150511853	CV1228362	single nucleotide variant	NM_004425.4(ECM1):c.-97G>A	not provided [RCV001637494]	benign	1	150508113	150508113	Human		name
150470369	CV1268253	single nucleotide variant	NM_004425.4(ECM1):c.*296C>G	not provided [RCV001695117]	benign	1	150513763	150513763	Human		name
126727482	CV1015523	single nucleotide variant	NM_004425.4(ECM1):c.122-3T>G	Lipid proteinosis [RCV001332451]\|not provided [RCV004691421]	uncertain significance	1	150509658	150509658	Human	1	name
150413912	CV1196464	single nucleotide variant	NM_004425.4(ECM1):c.71-25C>T	not provided [RCV001574768]	likely benign	1	150509506	150509506	Human		name
150540462	CV1314587	single nucleotide variant	NM_004425.4(ECM1):c.223+1G>A	Lipid proteinosis [RCV001781020]	likely pathogenic	1	150509763	150509763	Human		name
596945404	CV3401457	single nucleotide variant	NM_004425.4(ECM1):c.709-2A>G	Lipid proteinosis [RCV004818478]	pathogenic	1	150511455	150511455	Human	1	name
15144960	CV758815	single nucleotide variant	NM_004425.4(ECM1):c.386-5T>G	ECM1-related disorder [RCV003923291]\|Inborn genetic diseases [RCV002544961]\|not provided [RCV000922459]	likely benign\|uncertain significance	1	150510871	150510871	Human	2	name , trait , alternate_id
150333611	CV1168769	single nucleotide variant	NM_004425.4(ECM1):c.223+40G>T	not provided [RCV001537422]	likely benign	1	150509802	150509802	Human		name
150468205	CV1218882	single nucleotide variant	NM_004425.4(ECM1):c.71-111C>T	not provided [RCV001614634]	benign	1	150509420	150509420	Human		name
150517121	CV1227858	single nucleotide variant	NM_004425.4(ECM1):c.223+17A>G	not provided [RCV001639662]	benign	1	150509779	150509779	Human		name
150475037	CV1234537	single nucleotide variant	NM_004425.4(ECM1):c.709-93C>T	not provided [RCV001651857]	benign	1	150511364	150511364	Human		name
150484192	CV1247086	single nucleotide variant	NM_004425.4(ECM1):c.385+80G>A	not provided [RCV001673582]	benign	1	150510262	150510262	Human		name
150458397	CV1259039	single nucleotide variant	NM_004425.4(ECM1):c.71-269C>T	not provided [RCV001681758]	benign	1	150509262	150509262	Human		name
156295106	CV2239590	single nucleotide variant	NM_004425.4(ECM1):c.223+68T>C	Inborn genetic diseases [RCV002807631]	uncertain significance	1	150509830	150509830	Human	1	name
596945319	CV3401455	single nucleotide variant	NM_004425.4(ECM1):c.1305-2A>G	Lipid proteinosis [RCV004818476]	pathogenic	1	150512723	150512723	Human	1	name
13827628	CV578361	single nucleotide variant	NM_004425.4(ECM1):c.1393-1G>T	Lipid proteinosis [RCV000714805]	pathogenic	1	150513236	150513236	Human	1	name
150504354	CV1223933	single nucleotide variant	NM_004425.4(ECM1):c.386-116A>C	not provided [RCV001621582]	benign	1	150510760	150510760	Human		name
150489119	CV1237594	single nucleotide variant	NM_004425.4(ECM1):c.1305-25C>T	not provided [RCV001654443]	benign	1	150512700	150512700	Human		name
13462622	CV438710	single nucleotide variant	NM_004425.4(ECM1):c.1083+10C>T	Lipid proteinosis [RCV003338622]\|not provided [RCV000514488]	benign\|likely benign	1	150511841	150511841	Human	1	name
150410465	CV1189479	single nucleotide variant	NM_004425.4(ECM1):c.1084-197C>A	not provided [RCV001566066]	likely benign	1	150512155	150512155	Human		name
150434758	CV1215970	single nucleotide variant	NM_004425.4(ECM1):c.1393-142T>C	not provided [RCV001609159]	benign	1	150513095	150513095	Human		name
150486921	CV1225822	single nucleotide variant	NM_004425.4(ECM1):c.1083+248C>G	not provided [RCV001617983]	benign	1	150512079	150512079	Human		name
150491744	CV1251239	single nucleotide variant	NM_004425.4(ECM1):c.1393-114G>A	not provided [RCV001674907]	benign	1	150513123	150513123	Human		name
150493092	CV1257483	single nucleotide variant	NM_004425.4(ECM1):c.1393-182T>C	not provided [RCV001675156]	benign	1	150513055	150513055	Human		name
150450107	CV1273724	single nucleotide variant	NM_004425.4(ECM1):c.1393-147T>G	not provided [RCV001691824]	benign	1	150513090	150513090	Human		name
8559943	CV22512	deletion	NM_004425.4(ECM1):c.1304+35_*302del	Lipid proteinosis [RCV000007899]	pathogenic	1	150512606	150513768	Human	1	name
405281688	CV3224276	deletion	NM_004425.4(ECM1):c.1304+33_*300del	Lipid proteinosis [RCV003988658]	pathogenic	1	150512603	150513765	Human	1	name
156382195	CV2227237	single nucleotide variant	NM_004425.4(ECM1):c.19G>A (p.Ala7Thr)	Inborn genetic diseases [RCV002722726]	uncertain significance	1	150508228	150508228	Human	1	name
405283821	CV3200371	single nucleotide variant	NM_004425.4(ECM1):c.129C>T (p.Tyr43=)	ECM1-related disorder [RCV003979414]	likely benign	1	150509668	150509668	Human		name , trait , alternate_id
15182768	CV696074	single nucleotide variant	NM_004425.4(ECM1):c.231C>T (p.Pro77=)	not provided [RCV000952301]	benign	1	150509929	150509929	Human		name
15170723	CV706672	single nucleotide variant	NM_004425.4(ECM1):c.147A>C (p.Pro49=)	not provided [RCV000972065]	likely benign	1	150509686	150509686	Human		name
15137960	CV745663	single nucleotide variant	NM_004425.4(ECM1):c.144C>A (p.Ser48=)	not provided [RCV000921255]	likely benign	1	150509683	150509683	Human		name
15198143	CV745664	single nucleotide variant	NM_004425.4(ECM1):c.282C>T (p.Ala94=)	not provided [RCV000912170]	likely benign	1	150509980	150509980	Human		name
126743111	CV1019139	deletion	NM_004425.4(ECM1):c.233del (p.Pro78fs)	ECM1-related disorder [RCV003393982]\|Lipid proteinosis [RCV001780259]\|not provided [RCV001380576]	pathogenic\|likely pathogenic	1	150509927	150509927	Human	1	name , trait , alternate_id
126729774	CV1019140	deletion	NM_004425.4(ECM1):c.244del (p.Glu82fs)	Lipid proteinosis [RCV001333242]	pathogenic	1	150509941	150509941	Human		name
150480692	CV1222019	single nucleotide variant	NM_004425.4(ECM1):c.780G>A (p.Thr260=)	ECM1-related disorder [RCV003966252]\|not provided [RCV001616816]	benign	1	150511528	150511528	Human	1	name , trait , alternate_id
150495783	CV1225161	insertion	NM_004425.4(ECM1):c.1304+6_1304+7insCT	ECM1-related disorder [RCV003921281]\|not provided [RCV001619639]	benign	1	150512577	150512578	Human	1	name , trait , alternate_id
150497045	CV1256640	deletion	NM_004425.4(ECM1):c.1083+94_1083+95del	not provided [RCV001676132]	benign	1	150511920	150511921	Human		name
156273789	CV2202541	single nucleotide variant	NM_004425.4(ECM1):c.77C>T (p.Thr26Met)	Inborn genetic diseases [RCV002669712]	uncertain significance	1	150509537	150509537	Human	1	name
401932760	CV2809240	single nucleotide variant	NM_004425.4(ECM1):c.777C>T (p.Cys259=)	not provided [RCV003408856]	likely benign	1	150511525	150511525	Human		name
405291548	CV3205839	single nucleotide variant	NM_004425.4(ECM1):c.807C>T (p.Cys269=)	ECM1-related disorder [RCV003963962]	likely benign	1	150511555	150511555	Human		name , trait , alternate_id
15157967	CV706673	single nucleotide variant	NM_004425.4(ECM1):c.366C>T (p.His122=)	Lipid proteinosis [RCV003338884]\|not provided [RCV000969411]	benign\|likely benign	1	150510163	150510163	Human	1	name
15157974	CV706674	single nucleotide variant	NM_004425.4(ECM1):c.792G>A (p.Glu264=)	ECM1-related disorder [RCV003918408]\|Lipid proteinosis [RCV003338885]\|not provided [RCV000969412]	benign	1	150511540	150511540	Human	1	name , trait , alternate_id
15127877	CV780321	single nucleotide variant	NM_004425.4(ECM1):c.714G>A (p.Glu238=)	not provided [RCV000980618]	likely benign	1	150511462	150511462	Human		name
38459741	CV918554	deletion	NM_004425.4(ECM1):c.142del (p.Ser48fs)	Lipid proteinosis [RCV001195791]	likely pathogenic	1	150509681	150509681	Human	1	name
150544111	CV1313112	deletion	NM_004425.4(ECM1):c.785del (p.Gln262fs)	Lipid proteinosis [RCV001783190]	pathogenic	1	150511533	150511533	Human		name
156224385	CV2219347	single nucleotide variant	NM_004425.4(ECM1):c.229C>T (p.Pro77Ser)	Inborn genetic diseases [RCV002712340]	uncertain significance	1	150509927	150509927	Human	1	name
156390003	CV2222944	single nucleotide variant	NM_004425.4(ECM1):c.118G>A (p.Glu40Lys)	Inborn genetic diseases [RCV002724484]	uncertain significance	1	150509578	150509578	Human	1	name
11040202	CV224659	duplication	NM_004425.4(ECM1):c.506dup (p.Gly170fs)	Lipid proteinosis [RCV000208556]\|not provided [RCV001268537]	pathogenic\|not provided	1	150510990	150510991	Human	1	name
11040198	CV224660	deletion	NM_004425.4(ECM1):c.507del (p.Arg171fs)	ECM1-related disorder [RCV003401118]\|Lipid proteinosis [RCV000208549]	pathogenic	1	150510997	150510997	Human	1	name , trait , alternate_id
8597533	CV22514	single nucleotide variant	NM_004425.4(ECM1):c.157C>T (p.Arg53Ter)	Lipid proteinosis [RCV000007901]\|not provided [RCV001310535]	pathogenic	1	150509696	150509696	Human	1	name
156098429	CV2392784	single nucleotide variant	NM_004425.4(ECM1):c.136C>G (p.Pro46Ala)	Inborn genetic diseases [RCV002784757]	uncertain significance	1	150509675	150509675	Human	1	name
329370158	CV2461636	single nucleotide variant	NM_004425.4(ECM1):c.232C>T (p.Pro78Ser)	Inborn genetic diseases [RCV003209320]	uncertain significance	1	150509930	150509930	Human	1	name
405286876	CV3205527	single nucleotide variant	NM_004425.4(ECM1):c.146C>A (p.Pro49Gln)	ECM1-related disorder [RCV003959679]	likely benign	1	150509685	150509685	Human		name , trait , alternate_id
405753731	CV3238479	single nucleotide variant	NM_004425.4(ECM1):c.254C>T (p.Pro85Leu)	Inborn genetic diseases [RCV004382355]	uncertain significance	1	150509952	150509952	Human	1	name
596945405	CV3401459	deletion	NM_004425.4(ECM1):c.826del (p.Gln276fs)	Lipid proteinosis [RCV004818480]	pathogenic	1	150511571	150511571	Human	1	name
15201082	CV696073	single nucleotide variant	NM_004425.4(ECM1):c.130G>A (p.Ala44Thr)	ECM1-related disorder [RCV003915939]\|not provided [RCV000957518]	benign\|likely benign	1	150509669	150509669	Human	1	name , trait , alternate_id
15159857	CV718191	single nucleotide variant	NM_004425.4(ECM1):c.1242C>T (p.Ile414=)	not provided [RCV000881272]	benign\|likely benign	1	150512510	150512510	Human		name
15164787	CV731700	single nucleotide variant	NM_004425.4(ECM1):c.1548C>T (p.Asn516=)	not provided [RCV000904080]	benign	1	150513392	150513392	Human		name
15161024	CV745665	single nucleotide variant	NM_004425.4(ECM1):c.1002G>A (p.Glu334=)	not provided [RCV000925602]	likely benign	1	150511750	150511750	Human		name
15141526	CV780322	single nucleotide variant	NM_004425.4(ECM1):c.1512G>A (p.Leu504=)	not provided [RCV000982995]	likely benign	1	150513356	150513356	Human		name
150338511	CV1174232	single nucleotide variant	NM_004425.4(ECM1):c.742G>T (p.Glu248Ter)	Autism [RCV004698550]\|Lipid proteinosis [RCV001542463]	pathogenic\|uncertain significance\|not provided	1	150511490	150511490	Human	3	name
150407988	CV1182526	single nucleotide variant	NM_004425.4(ECM1):c.806G>A (p.Cys269Tyr)	Lipid proteinosis [RCV001554299]	pathogenic\|likely pathogenic	1	150511554	150511554	Human	1	name
150435383	CV1212720	single nucleotide variant	NM_004425.4(ECM1):c.389C>T (p.Thr130Met)	Lipid proteinosis [RCV001658311]\|not provided [RCV001597951]	benign	1	150510879	150510879	Human	1	name
155977435	CV2218735	single nucleotide variant	NM_004425.4(ECM1):c.512G>A (p.Arg171Gln)	Inborn genetic diseases [RCV002688051]	uncertain significance	1	150511002	150511002	Human	1	name
155985217	CV2241208	single nucleotide variant	NM_004425.4(ECM1):c.970A>C (p.Asn324His)	Inborn genetic diseases [RCV002732823]	uncertain significance	1	150511718	150511718	Human	1	name
11040201	CV224661	single nucleotide variant	NM_004425.4(ECM1):c.658T>G (p.Cys220Gly)	Lipid proteinosis [RCV000208554]	pathogenic\|not provided	1	150511148	150511148	Human	1	name
11040211	CV224662	single nucleotide variant	NM_004425.4(ECM1):c.727C>T (p.Arg243Ter)	Lipid proteinosis [RCV000208570]	pathogenic\|not provided	1	150511475	150511475	Human	1	name
11040191	CV224663	single nucleotide variant	NM_004425.4(ECM1):c.826C>T (p.Gln276Ter)	Lipid proteinosis [RCV000208541]	pathogenic\|not provided	1	150511574	150511574	Human	1	name
8559942	CV22510	deletion	NM_004425.4(ECM1):c.1019del (p.Gln340fs)	Lipid proteinosis [RCV000007897]	pathogenic\|likely pathogenic	1	150511767	150511767	Human	1	name
8597534	CV22515	single nucleotide variant	NM_004425.4(ECM1):c.499T>A (p.Phe167Ile)	Lipid proteinosis [RCV000007902]	pathogenic\|likely pathogenic	1	150510989	150510989	Human	1	name
8559945	CV22516	single nucleotide variant	NM_004425.4(ECM1):c.480G>A (p.Trp160Ter)	Lipid proteinosis [RCV000007903]	pathogenic	1	150510970	150510970	Human	1	name
155972367	CV2309400	single nucleotide variant	NM_004425.4(ECM1):c.644T>C (p.Ile215Thr)	Inborn genetic diseases [RCV002907044]	likely benign	1	150511134	150511134	Human	1	name
156203611	CV2334990	single nucleotide variant	NM_004425.4(ECM1):c.845G>A (p.Arg282Gln)	Inborn genetic diseases [RCV002931749]	uncertain significance	1	150511593	150511593	Human	1	name
155975948	CV2338541	single nucleotide variant	NM_004425.4(ECM1):c.304G>A (p.Val102Met)	Inborn genetic diseases [RCV002946226]	uncertain significance	1	150510002	150510002	Human	1	name
401781930	CV2690007	single nucleotide variant	NM_004425.4(ECM1):c.512G>T (p.Arg171Leu)	Inborn genetic diseases [RCV003265468]	uncertain significance	1	150511002	150511002	Human	1	name
401748479	CV2698395	single nucleotide variant	NM_004425.4(ECM1):c.436A>T (p.Asn146Tyr)	Inborn genetic diseases [RCV003253111]	uncertain significance	1	150510926	150510926	Human	1	name
401735331	CV2706754	single nucleotide variant	NM_004425.4(ECM1):c.503C>A (p.Pro168His)	Inborn genetic diseases [RCV003272888]	uncertain significance	1	150510993	150510993	Human	1	name
401765860	CV2717897	single nucleotide variant	NM_004425.4(ECM1):c.878C>T (p.Ser293Leu)	Inborn genetic diseases [RCV003282385]	uncertain significance	1	150511626	150511626	Human	1	name
401920970	CV2802168	single nucleotide variant	NM_004425.4(ECM1):c.499T>G (p.Phe167Val)	ECM1-related disorder [RCV003402799]	uncertain significance	1	150510989	150510989	Human		name , trait , alternate_id
405280789	CV3190553	single nucleotide variant	NM_004425.4(ECM1):c.796C>T (p.Arg266Trp)	ECM1-related disorder [RCV003906992]	likely benign	1	150511544	150511544	Human		name , trait , alternate_id
405704641	CV3225127	single nucleotide variant	NM_004425.4(ECM1):c.749C>T (p.Ser250Leu)	Lipid proteinosis [RCV003990083]	uncertain significance	1	150511497	150511497	Human	1	name
405753739	CV3238480	single nucleotide variant	NM_004425.4(ECM1):c.395C>T (p.Ala132Val)	Inborn genetic diseases [RCV004382356]	uncertain significance	1	150510885	150510885	Human	1	name
405753743	CV3238481	single nucleotide variant	NM_004425.4(ECM1):c.490C>G (p.Leu164Val)	Inborn genetic diseases [RCV004382357]	uncertain significance	1	150510980	150510980	Human	1	name
405753749	CV3238482	single nucleotide variant	NM_004425.4(ECM1):c.505C>T (p.Pro169Ser)	Inborn genetic diseases [RCV004382358]	uncertain significance	1	150510995	150510995	Human	1	name
405753756	CV3238483	single nucleotide variant	NM_004425.4(ECM1):c.655C>T (p.Arg219Cys)	Inborn genetic diseases [RCV004382359]	uncertain significance	1	150511145	150511145	Human	1	name
405753762	CV3238484	single nucleotide variant	NM_004425.4(ECM1):c.869A>G (p.Asp290Gly)	Inborn genetic diseases [RCV004382360]	likely benign	1	150511617	150511617	Human	1	name
405753770	CV3238485	single nucleotide variant	NM_004425.4(ECM1):c.955C>T (p.Arg319Cys)	Inborn genetic diseases [RCV004382361]	uncertain significance	1	150511703	150511703	Human	1	name
405753777	CV3238486	single nucleotide variant	NM_004425.4(ECM1):c.967C>T (p.Arg323Cys)	Inborn genetic diseases [RCV004382362]	uncertain significance	1	150511715	150511715	Human	1	name
405753791	CV3238488	single nucleotide variant	NM_004425.4(ECM1):c.995A>G (p.Gln332Arg)	Inborn genetic diseases [RCV004382364]	uncertain significance	1	150511743	150511743	Human	1	name
407478473	CV3441491	single nucleotide variant	NM_004425.4(ECM1):c.956G>A (p.Arg319His)	Inborn genetic diseases [RCV004617539]	uncertain significance	1	150511704	150511704	Human	1	name
408394158	CV3521751	deletion	NM_004425.4(ECM1):c.49_52del (p.Ala17fs)	Lipid proteinosis [RCV004764550]	likely pathogenic	1	150508256	150508259	Human	1	name
597666358	CV3667309	single nucleotide variant	NM_004425.4(ECM1):c.425C>T (p.Pro142Leu)	Inborn genetic diseases [RCV004979491]	uncertain significance	1	150510915	150510915	Human	1	name
597666364	CV3667310	single nucleotide variant	NM_004425.4(ECM1):c.656G>A (p.Arg219His)	Inborn genetic diseases [RCV004979492]	uncertain significance	1	150511146	150511146	Human	1	name
597666375	CV3667312	single nucleotide variant	NM_004425.4(ECM1):c.968G>A (p.Arg323His)	Inborn genetic diseases [RCV004979494]	uncertain significance	1	150511716	150511716	Human	1	name
597666380	CV3667314	single nucleotide variant	NM_004425.4(ECM1):c.716A>C (p.Glu239Ala)	Inborn genetic diseases [RCV004979495]	uncertain significance	1	150511464	150511464	Human	1	name
597666385	CV3667315	single nucleotide variant	NM_004425.4(ECM1):c.865C>T (p.Pro289Ser)	Inborn genetic diseases [RCV004979496]	uncertain significance	1	150511613	150511613	Human	1	name
597666390	CV3667316	single nucleotide variant	NM_004425.4(ECM1):c.487C>T (p.Arg163Trp)	Inborn genetic diseases [RCV004979497]	uncertain significance	1	150510977	150510977	Human	1	name
598165388	CV3953997	single nucleotide variant	NM_004425.4(ECM1):c.730T>C (p.Phe244Leu)	Inborn genetic diseases [RCV005329696]	uncertain significance	1	150511478	150511478	Human	1	name
598165394	CV3953998	single nucleotide variant	NM_004425.4(ECM1):c.371A>G (p.Asn124Ser)	Inborn genetic diseases [RCV005329697]	likely benign	1	150510168	150510168	Human	1	name
598165399	CV3953999	single nucleotide variant	NM_004425.4(ECM1):c.788G>A (p.Gly263Glu)	Inborn genetic diseases [RCV005329698]	uncertain significance	1	150511536	150511536	Human	1	name
598165408	CV3954001	single nucleotide variant	NM_004425.4(ECM1):c.511C>T (p.Arg171Trp)	Inborn genetic diseases [RCV005329700]	uncertain significance	1	150511001	150511001	Human	1	name
598165414	CV3954003	single nucleotide variant	NM_004425.4(ECM1):c.472G>T (p.Gly158Trp)	Inborn genetic diseases [RCV005329702]	uncertain significance	1	150510962	150510962	Human	1	name
598165429	CV3954006	single nucleotide variant	NM_004425.4(ECM1):c.671G>A (p.Arg224His)	Inborn genetic diseases [RCV005329705]	likely benign	1	150511161	150511161	Human	1	name
34890815	CV904367	single nucleotide variant	NM_004425.4(ECM1):c.505C>G (p.Pro169Ala)	Inborn genetic diseases [RCV003259136]\|Lipid proteinosis [RCV003339525]\|not provided [RCV001171761]	uncertain significance	1	150510995	150510995	Human	2	name
40889985	CV974946	single nucleotide variant	NM_004425.4(ECM1):c.760C>T (p.Arg254Ter)	not provided [RCV001268538]	pathogenic	1	150511508	150511508	Human		name
150512215	CV1245299	single nucleotide variant	NM_004425.4(ECM1):c.1243G>A (p.Gly415Ser)	Lipid proteinosis [RCV001661262]\|not provided [RCV004715529]	benign	1	150512511	150512511	Human	2	name
156188633	CV2205827	single nucleotide variant	NM_004425.4(ECM1):c.1600A>G (p.Thr534Ala)	Inborn genetic diseases [RCV002665744]	uncertain significance	1	150513444	150513444	Human	1	name
8597532	CV22511	single nucleotide variant	NM_004425.4(ECM1):c.1036C>T (p.Gln346Ter)	Lipid proteinosis [RCV000007898]	pathogenic	1	150511784	150511784	Human	1	name
156163017	CV2319597	single nucleotide variant	NM_004425.4(ECM1):c.1429C>T (p.Arg477Cys)	Inborn genetic diseases [RCV002955382]	uncertain significance	1	150513273	150513273	Human	1	name
156191394	CV2325596	single nucleotide variant	NM_004425.4(ECM1):c.1403T>G (p.Phe468Cys)	Inborn genetic diseases [RCV002931007]	uncertain significance	1	150513247	150513247	Human	1	name
156341278	CV2344733	single nucleotide variant	NM_004425.4(ECM1):c.1033T>A (p.Phe345Ile)	Inborn genetic diseases [RCV002965322]	uncertain significance	1	150511781	150511781	Human	1	name
329358666	CV2425306	single nucleotide variant	NM_004425.4(ECM1):c.1220G>A (p.Arg407Gln)	Inborn genetic diseases [RCV003179028]	uncertain significance	1	150512488	150512488	Human	1	name
401855510	CV2752799	single nucleotide variant	NM_004425.4(ECM1):c.1246C>T (p.Arg416Ter)	Lipid proteinosis [RCV003337853]	pathogenic\|likely pathogenic	1	150512514	150512514	Human	1	name
401880612	CV2780278	single nucleotide variant	NM_004425.4(ECM1):c.1564G>C (p.Glu522Gln)	Inborn genetic diseases [RCV003364708]	uncertain significance	1	150513408	150513408	Human	1	name
405281701	CV3224285	single nucleotide variant	NM_004425.4(ECM1):c.1051C>T (p.Gln351Ter)	Lipid proteinosis [RCV003988667]	likely pathogenic	1	150511799	150511799	Human	1	name
405753691	CV3238473	single nucleotide variant	NM_004425.4(ECM1):c.1049G>A (p.Arg350His)	Inborn genetic diseases [RCV004382349]	uncertain significance	1	150511797	150511797	Human	1	name
405753698	CV3238474	single nucleotide variant	NM_004425.4(ECM1):c.1094C>A (p.Thr365Asn)	Inborn genetic diseases [RCV004382350]	uncertain significance	1	150512362	150512362	Human	1	name
405753702	CV3238475	single nucleotide variant	NM_004425.4(ECM1):c.1159C>T (p.Pro387Ser)	Inborn genetic diseases [RCV004382351]	uncertain significance	1	150512427	150512427	Human	1	name
405753708	CV3238476	single nucleotide variant	NM_004425.4(ECM1):c.1372G>T (p.Ala458Ser)	Inborn genetic diseases [RCV004382352]	uncertain significance	1	150512792	150512792	Human	1	name
405753715	CV3238477	single nucleotide variant	NM_004425.4(ECM1):c.1417T>C (p.Cys473Arg)	Inborn genetic diseases [RCV004382353]	uncertain significance	1	150513261	150513261	Human	1	name
596945317	CV3401454	single nucleotide variant	NM_004425.4(ECM1):c.1441C>T (p.Arg481Ter)	Lipid proteinosis [RCV004818475]	pathogenic	1	150513285	150513285	Human	1	name
407478478	CV3441492	single nucleotide variant	NM_004425.4(ECM1):c.1042T>G (p.Cys348Gly)	Inborn genetic diseases [RCV004617540]	uncertain significance	1	150511790	150511790	Human	1	name
12850119	CV363649	single nucleotide variant	NM_004425.4(ECM1):c.1100A>T (p.Asp367Val)	Lipid proteinosis [RCV003338580]\|not provided [RCV000441817]	benign\|likely benign	1	150512368	150512368	Human	1	name
597666370	CV3667311	single nucleotide variant	NM_004425.4(ECM1):c.1598C>T (p.Ser533Phe)	Inborn genetic diseases [RCV004979493]	uncertain significance	1	150513442	150513442	Human	1	name
597721997	CV3718866	single nucleotide variant	NM_004425.4(ECM1):c.1403T>C (p.Phe468Ser)	Lipid proteinosis [RCV005035809]	uncertain significance	1	150513247	150513247	Human	1	name
598165404	CV3954000	single nucleotide variant	NM_004425.4(ECM1):c.1249G>A (p.Val417Ile)	Inborn genetic diseases [RCV005329699]	uncertain significance	1	150512517	150512517	Human	1	name
598165412	CV3954002	single nucleotide variant	NM_004425.4(ECM1):c.1373C>A (p.Ala458Asp)	Inborn genetic diseases [RCV005329701]	uncertain significance	1	150512793	150512793	Human	1	name
598165419	CV3954004	single nucleotide variant	NM_004425.4(ECM1):c.1424C>A (p.Pro475His)	Inborn genetic diseases [RCV005329703]	uncertain significance	1	150513268	150513268	Human	1	name
598165425	CV3954005	single nucleotide variant	NM_004425.4(ECM1):c.1519G>T (p.Val507Leu)	Inborn genetic diseases [RCV005329704]	uncertain significance	1	150513363	150513363	Human	1	name
15167729	CV706675	single nucleotide variant	NM_004425.4(ECM1):c.1114C>T (p.Arg372Trp)	ECM1-related disorder [RCV003960837]\|not provided [RCV000971460]	benign\|likely benign	1	150512382	150512382	Human	1	name , trait , alternate_id
15170850	CV718190	single nucleotide variant	NM_004425.4(ECM1):c.1154G>A (p.Arg385His)	not provided [RCV000883546]	benign	1	150512422	150512422	Human		name
15200858	CV745666	single nucleotide variant	NM_004425.4(ECM1):c.1343G>A (p.Arg448His)	not provided [RCV000912968]	benign	1	150512763	150512763	Human		name
401913482	CV2801772	microsatellite	NM_004425.4(ECM1):c.240_241del (p.Gln81fs)	ECM1-related disorder [RCV003400146]	likely pathogenic	1	150509935	150509936	Human		name , trait , alternate_id
151729384	CV1517657	deletion	NM_004425.4(ECM1):c.1287_1288del (p.Arg430fs)	Lipid proteinosis [RCV002052273]	pathogenic	1	150512554	150512555	Human	1	name
155798934	CV1859344	deletion	NM_004425.4(ECM1):c.1450_1454del (p.Ala484fs)	Lipid proteinosis [RCV002464973]	pathogenic	1	150513290	150513294	Human	1	name
596945321	CV3401458	duplication	NM_004425.4(ECM1):c.1412_1413dup (p.Leu472fs)	Lipid proteinosis [RCV004818479]	pathogenic	1	150513255	150513256	Human	1	name
405282057	CV3224727	indel	NM_004425.4(ECM1):c.629_630delinsCT (p.Leu210Pro)	Lipid proteinosis [RCV003989064]	uncertain significance	1	150511119	150511120	Human		name
155794738	CV1860990	insertion	NM_004425.4(ECM1):c.542_543insAACCAAATCTGAA (p.Cys181Ter)	Lipid proteinosis [RCV002468703]	pathogenic	1	150511032	150511033	Human	1	name
596945320	CV3401456	microsatellite	NM_004425.4(ECM1):c.735_736del (p.Cys245_Glu246delinsTer)	Lipid proteinosis [RCV004818477]	pathogenic	1	150511481	150511482	Human		name
11040210	CV224664	indel	NM_004425.4(ECM1):c.93_94delinsTT (p.Arg31_Gln32delinsSerTer)	Lipid proteinosis [RCV000208569]	pathogenic\|not provided	1	150509553	150509554	Human		name
152999074	CV1679511	insertion	NM_004425.4(ECM1):c.1209_1210insTAGGAAGCCAATTGATATCATAGCTCAGACCATACCTATGTATCCAAATGGTTCTTTTTTTCC (p.Asn404Ter)	Lipid proteinosis [RCV002250900]	pathogenic	1	150512475	150512476	Human	1	name

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