Sepn1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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608 records found for search term Sepn1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
126771657	CV1002720	single nucleotide variant	NM_020451.3(SELENON):c.18G>A (p.Pro6=)	Eichsfeld type congenital muscular dystrophy [RCV001323283]	likely benign\|uncertain significance	1	25800248	25800248	Human	1	alternate_id
126736361	CV1002721	single nucleotide variant	NM_020451.3(SELENON):c.875T>A (p.Ile292Asn)	Eichsfeld type congenital muscular dystrophy [RCV001313845]	uncertain significance	1	25809685	25809685	Human	1	alternate_id
126747654	CV1002722	single nucleotide variant	NM_020451.3(SELENON):c.1574T>G (p.Met525Arg)	Eichsfeld type congenital muscular dystrophy [RCV001326195]	conflicting interpretations of pathogenicity\|uncertain significance	1	25814150	25814150	Human	1	alternate_id
126749533	CV1002723	single nucleotide variant	NM_020451.3(SELENON):c.1703C>T (p.Pro568Leu)	Eichsfeld type congenital muscular dystrophy [RCV001326554]	uncertain significance	1	25815648	25815648	Human	1	alternate_id
126729337	CV1002724	single nucleotide variant	NM_020451.3(SELENON):c.1748G>A (p.Arg583His)	Eichsfeld type congenital muscular dystrophy [RCV001312674]	uncertain significance	1	25815693	25815693	Human	1	alternate_id
126739254	CV1015703	single nucleotide variant	NM_020451.3(SELENON):c.1387+1G>A	Eichsfeld type congenital muscular dystrophy [RCV001329141]	pathogenic\|likely pathogenic	1	25812793	25812793	Human	1	alternate_id
8642867	CV101851	single nucleotide variant	NM_020451.3(SELENON):c.103G>C (p.Gly35Arg)	Congenital myopathy with fiber type disproportion [RCV001329140]\|Eichsfeld type congenital muscular dystrophy [RCV000558595]\|Inborn genetic diseases [RCV003162515]\|SEPN1-related disorder [RCV001097299]\|not provided [RCV000723675]\|not specified [RCV003398680]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	25800333	25800333	Human	3	trait , alternate_id
8642868	CV101852	single nucleotide variant	NM_020451.3(SELENON):c.1173T>C (p.Pro391=)	Eichsfeld type congenital muscular dystrophy [RCV000615156]\|SEPN1-related disorder [RCV000358370]\|not provided [RCV000992917]\|not specified [RCV000082009]	benign	1	25811771	25811771	Human	1	trait , alternate_id
8642869	CV101853	single nucleotide variant	NM_020451.3(SELENON):c.1246C>T (p.Arg416Trp)	Eichsfeld type congenital muscular dystrophy [RCV000702262]\|Inborn genetic diseases [RCV003298136]\|not provided [RCV000082010]	uncertain significance	1	25811844	25811844	Human	2	alternate_id
8642870	CV101854	single nucleotide variant	NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter)	Eichsfeld type congenital muscular dystrophy [RCV000792332]\|See cases [RCV001197254]\|not provided [RCV000082011]	pathogenic	1	25812720	25812720	Human	1	alternate_id
8642871	CV101855	single nucleotide variant	NM_020451.3(SELENON):c.1506C>A (p.Asn502Lys)	Eichsfeld type congenital muscular dystrophy [RCV000604869]\|SEPN1-related disorder [RCV000299948]\|not provided [RCV000992919]\|not specified [RCV000082012]	benign	1	25814082	25814082	Human	1	trait , alternate_id
8642872	CV101856	single nucleotide variant	NM_020451.3(SELENON):c.1596C>T (p.Gly532=)	Eichsfeld type congenital muscular dystrophy [RCV001088210]\|SELENON-related disorder [RCV003945025]\|not provided [RCV000723580]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	25814172	25814172	Human	1	alternate_id
8642873	CV101857	single nucleotide variant	NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys)	Congenital myopathy with fiber type disproportion [RCV001329142]\|Eichsfeld type congenital muscular dystrophy [RCV000542565]\|SEPN1-related disorder [RCV001097379]\|not provided [RCV000723596]\|not specified [RCV003398681]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	25815599	25815599	Human	2	trait , alternate_id
8642875	CV101859	single nucleotide variant	NM_020451.3(SELENON):c.425G>A (p.Cys142Tyr)	Eichsfeld type congenital muscular dystrophy [RCV000610428]\|SEPN1-related disorder [RCV000371932]\|not provided [RCV000992920]\|not specified [RCV000082016]	benign	1	25805163	25805163	Human	1	trait , alternate_id
8642876	CV101860	single nucleotide variant	NM_020451.3(SELENON):c.42C>T (p.Pro14=)	Eichsfeld type congenital muscular dystrophy [RCV000531784]\|SEPN1-related disorder [RCV001101036]\|not provided [RCV001711252]\|not specified [RCV000082017]	benign	1	25800272	25800272	Human	1	trait , alternate_id
8642877	CV101861	microsatellite	NM_020451.3(SELENON):c.427GAG[5] (p.Glu146dup)	Eichsfeld type congenital muscular dystrophy [RCV001080989]\|not provided [RCV000082018]\|not specified [RCV000194580]	likely pathogenic\|benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	25805164	25805165	Human		alternate_id
8642878	CV101862	single nucleotide variant	NM_020451.3(SELENON):c.583G>A (p.Ala195Thr)	Eichsfeld type congenital muscular dystrophy [RCV001080975]\|SEPN1-related disorder [RCV001099051]\|not provided [RCV000710211]\|not specified [RCV000082019]	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	1	25808625	25808625	Human	1	trait , alternate_id
8642879	CV101863	single nucleotide variant	NM_020451.3(SELENON):c.981C>T (p.Arg327=)	Eichsfeld type congenital muscular dystrophy [RCV000548448]\|SEPN1-related disorder [RCV000406527]\|not provided [RCV000992921]\|not specified [RCV000082021]	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	1	25809791	25809791	Human	1	trait , alternate_id
126773516	CV1023197	single nucleotide variant	NM_020451.3(SELENON):c.608C>T (p.Thr203Ile)	Eichsfeld type congenital muscular dystrophy [RCV001346229]	uncertain significance	1	25808650	25808650	Human	1	alternate_id
126774556	CV1023198	single nucleotide variant	NM_020451.3(SELENON):c.668T>A (p.Ile223Asn)	Eichsfeld type congenital muscular dystrophy [RCV001347363]	uncertain significance	1	25808710	25808710	Human	1	alternate_id
126773498	CV1023199	single nucleotide variant	NM_020451.3(SELENON):c.728C>T (p.Pro243Leu)	Eichsfeld type congenital muscular dystrophy [RCV001346219]\|Inborn genetic diseases [RCV003375238]	uncertain significance	1	25808770	25808770	Human	2	alternate_id
126773057	CV1023200	single nucleotide variant	NM_020451.3(SELENON):c.1592A>G (p.Asn531Ser)	Eichsfeld type congenital muscular dystrophy [RCV001345972]\|Inborn genetic diseases [RCV004036471]	uncertain significance	1	25814168	25814168	Human	2	alternate_id
126752259	CV1023201	single nucleotide variant	NM_020451.3(SELENON):c.1602+4G>A	Eichsfeld type congenital muscular dystrophy [RCV001338398]	uncertain significance	1	25814182	25814182	Human	1	alternate_id
126914121	CV1037015	single nucleotide variant	NM_020451.3(SELENON):c.580G>A (p.Ala194Thr)	Eichsfeld type congenital muscular dystrophy [RCV001871947]\|not provided [RCV001357986]	uncertain significance	1	25808622	25808622	Human	1	alternate_id
126915959	CV1040042	single nucleotide variant	NM_020451.3(SELENON):c.146G>A (p.Cys49Tyr)	Eichsfeld type congenital muscular dystrophy [RCV001360290]	uncertain significance	1	25800376	25800376	Human	1	alternate_id
126920304	CV1040043	single nucleotide variant	NM_020451.3(SELENON):c.184-6A>C	Eichsfeld type congenital muscular dystrophy [RCV001373730]	uncertain significance	1	25801037	25801037	Human	1	alternate_id
126915891	CV1040044	single nucleotide variant	NM_020451.3(SELENON):c.206G>A (p.Gly69Glu)	Eichsfeld type congenital muscular dystrophy [RCV001371185]	uncertain significance	1	25801065	25801065	Human	1	alternate_id
126923116	CV1040045	single nucleotide variant	NM_020451.3(SELENON):c.227T>C (p.Phe76Ser)	Eichsfeld type congenital muscular dystrophy [RCV001365476]	uncertain significance	1	25801086	25801086	Human	1	alternate_id
126920282	CV1040046	single nucleotide variant	NM_020451.3(SELENON):c.614A>C (p.His205Pro)	Eichsfeld type congenital muscular dystrophy [RCV001362783]\|Inborn genetic diseases [RCV004968126]	uncertain significance	1	25808656	25808656	Human	2	alternate_id
126919705	CV1040047	single nucleotide variant	NM_020451.3(SELENON):c.814C>G (p.Gln272Glu)	Eichsfeld type congenital muscular dystrophy [RCV001362449]	uncertain significance	1	25809092	25809092	Human	1	alternate_id
126922165	CV1040048	single nucleotide variant	NM_020451.3(SELENON):c.982G>A (p.Asp328Asn)	Eichsfeld type congenital muscular dystrophy [RCV001364346]	uncertain significance	1	25809792	25809792	Human	1	alternate_id
126922883	CV1040049	single nucleotide variant	NM_020451.3(SELENON):c.1123C>A (p.Pro375Thr)	Eichsfeld type congenital muscular dystrophy [RCV001365194]\|SELENON-related disorder [RCV003898351]	uncertain significance	1	25811721	25811721	Human	1	alternate_id
126916650	CV1040050	single nucleotide variant	NM_020451.3(SELENON):c.1312G>A (p.Asp438Asn)	Eichsfeld type congenital muscular dystrophy [RCV001360704]\|Inborn genetic diseases [RCV003246937]	uncertain significance	1	25812717	25812717	Human	2	alternate_id
126914021	CV1040051	single nucleotide variant	NM_020451.3(SELENON):c.1747C>T (p.Arg583Cys)	Eichsfeld type congenital muscular dystrophy [RCV001359386]	uncertain significance	1	25815692	25815692	Human	1	alternate_id
127254814	CV1054835	single nucleotide variant	NM_020451.3(SELENON):c.538-1G>C	Eichsfeld type congenital muscular dystrophy [RCV001379243]	likely pathogenic	1	25808579	25808579	Human	1	alternate_id
127255531	CV1054836	single nucleotide variant	NM_020451.3(SELENON):c.1011-1G>C	Eichsfeld type congenital muscular dystrophy [RCV001379388]	likely pathogenic	1	25811453	25811453	Human	1	alternate_id
127271214	CV1058715	duplication	NM_020451.3(SELENON):c.1086dup (p.Pro363fs)	Eichsfeld type congenital muscular dystrophy [RCV001390083]	pathogenic	1	25811528	25811529	Human	1	alternate_id
127267094	CV1058716	deletion	NM_020451.3(SELENON):c.1314_1317del (p.Asp438fs)	Eichsfeld type congenital muscular dystrophy [RCV001388879]	pathogenic	1	25812716	25812719	Human	1	alternate_id
127251769	CV1067186	single nucleotide variant	NM_020451.3(SELENON):c.393C>T (p.Leu131=)	Eichsfeld type congenital muscular dystrophy [RCV001417874]	likely benign	1	25802107	25802107	Human	1	alternate_id
127282007	CV1067187	single nucleotide variant	NM_020451.3(SELENON):c.538-8C>T	Eichsfeld type congenital muscular dystrophy [RCV001410837]	likely benign	1	25808572	25808572	Human	1	alternate_id
127279673	CV1067188	single nucleotide variant	NM_020451.3(SELENON):c.1010+8C>T	Eichsfeld type congenital muscular dystrophy [RCV001409276]	likely benign	1	25809828	25809828	Human	1	alternate_id
127234953	CV1067189	single nucleotide variant	NM_020451.3(SELENON):c.1041C>T (p.Tyr347=)	Eichsfeld type congenital muscular dystrophy [RCV001391737]\|SELENON-related disorder [RCV004757424]	likely benign	1	25811484	25811484	Human	1	alternate_id
127231701	CV1067190	single nucleotide variant	NM_020451.3(SELENON):c.1170G>T (p.Leu390=)	Eichsfeld type congenital muscular dystrophy [RCV001413200]	likely benign	1	25811768	25811768	Human	1	alternate_id
127246158	CV1067191	single nucleotide variant	NM_020451.3(SELENON):c.1419G>A (p.Leu473=)	Eichsfeld type congenital muscular dystrophy [RCV001398901]	likely benign	1	25813912	25813912	Human	1	alternate_id
127269416	CV1067192	single nucleotide variant	NM_020451.3(SELENON):c.1620C>T (p.Ala540=)	Eichsfeld type congenital muscular dystrophy [RCV001404677]	likely benign	1	25815565	25815565	Human	1	alternate_id
127283732	CV1088951	single nucleotide variant	NM_020451.3(SELENON):c.33G>A (p.Pro11=)	Eichsfeld type congenital muscular dystrophy [RCV001448710]	likely benign	1	25800263	25800263	Human	1	alternate_id
127242133	CV1088952	single nucleotide variant	NM_020451.3(SELENON):c.378T>C (p.Asn126=)	Eichsfeld type congenital muscular dystrophy [RCV001423681]	likely benign	1	25802092	25802092	Human	1	alternate_id
127278724	CV1088953	single nucleotide variant	NM_020451.3(SELENON):c.558C>T (p.Ser186=)	Eichsfeld type congenital muscular dystrophy [RCV001445263]	likely benign	1	25808600	25808600	Human	1	alternate_id
127281862	CV1088954	single nucleotide variant	NM_020451.3(SELENON):c.618C>T (p.Phe206=)	Eichsfeld type congenital muscular dystrophy [RCV001447437]	likely benign	1	25808660	25808660	Human	1	alternate_id
127262517	CV1088955	single nucleotide variant	NM_020451.3(SELENON):c.748-6C>T	Eichsfeld type congenital muscular dystrophy [RCV001438991]	likely benign	1	25809020	25809020	Human	1	alternate_id
127278845	CV1088956	single nucleotide variant	NM_020451.3(SELENON):c.1362G>A (p.Gly454=)	Eichsfeld type congenital muscular dystrophy [RCV001445366]	likely benign	1	25812767	25812767	Human	1	alternate_id
127275482	CV1088957	single nucleotide variant	NM_020451.3(SELENON):c.1566C>T (p.Pro522=)	Eichsfeld type congenital muscular dystrophy [RCV001432378]	likely benign	1	25814142	25814142	Human	1	alternate_id
127332200	CV1110456	single nucleotide variant	NM_020451.3(SELENON):c.123C>T (p.Ala41=)	Eichsfeld type congenital muscular dystrophy [RCV001472086]	likely benign	1	25800353	25800353	Human	1	alternate_id
127289976	CV1110457	single nucleotide variant	NM_020451.3(SELENON):c.186A>G (p.Glu62=)	Eichsfeld type congenital muscular dystrophy [RCV001458291]	likely benign	1	25801045	25801045	Human	1	alternate_id
127304277	CV1110458	single nucleotide variant	NM_020451.3(SELENON):c.538-7G>A	Eichsfeld type congenital muscular dystrophy [RCV001462173]	likely benign	1	25808573	25808573	Human	1	alternate_id
127308254	CV1110459	single nucleotide variant	NM_020451.3(SELENON):c.579C>T (p.Ala193=)	Eichsfeld type congenital muscular dystrophy [RCV001456028]	likely benign	1	25808621	25808621	Human	1	alternate_id
127314545	CV1110460	single nucleotide variant	NM_020451.3(SELENON):c.1563C>T (p.Phe521=)	Eichsfeld type congenital muscular dystrophy [RCV001457725]	likely benign	1	25814139	25814139	Human	1	alternate_id
127323724	CV1131326	single nucleotide variant	NM_020451.3(SELENON):c.216C>G (p.Gly72=)	Eichsfeld type congenital muscular dystrophy [RCV001505516]	likely benign	1	25801075	25801075	Human	1	alternate_id
127295258	CV1131327	single nucleotide variant	NM_020451.3(SELENON):c.270G>A (p.Glu90=)	Eichsfeld type congenital muscular dystrophy [RCV001497222]	likely benign	1	25801129	25801129	Human	1	alternate_id
127327617	CV1131328	single nucleotide variant	NM_020451.3(SELENON):c.828C>T (p.Ala276=)	Eichsfeld type congenital muscular dystrophy [RCV001506716]	likely benign	1	25809106	25809106	Human	1	alternate_id
127326775	CV1131329	single nucleotide variant	NM_020451.3(SELENON):c.907G>A (p.Asp303Asn)	Eichsfeld type congenital muscular dystrophy [RCV001486139]	likely benign	1	25809717	25809717	Human	1	alternate_id
151349119	CV1170159	deletion	NM_020451.3(SELENON):c.1446del (p.Asn483fs)	Congenital myopathy 4A, autosomal dominant [RCV003389337]\|Eichsfeld type congenital muscular dystrophy [RCV003388845]	pathogenic\|likely pathogenic	1	25813939	25813939	Human	2	alternate_id
150553562	CV1303570	single nucleotide variant	NM_020451.3(SELENON):c.976G>A (p.Val326Ile)	Eichsfeld type congenital muscular dystrophy [RCV002540494]\|not provided [RCV001769260]\|not specified [RCV005237972]	uncertain significance	1	25809786	25809786	Human	1	alternate_id
150546698	CV1313856	deletion	NM_020451.3(SELENON):c.446_447del (p.Pro149fs)	Eichsfeld type congenital muscular dystrophy [RCV003485732]	pathogenic	1	25805184	25805185	Human	1	alternate_id
150546702	CV1313857	deletion	NM_020451.3(SELENON):c.748-2_760del	Eichsfeld type congenital muscular dystrophy [RCV002541163]	pathogenic\|likely pathogenic	1	25809022	25809036	Human	1	alternate_id
151759257	CV1340652	single nucleotide variant	NM_020451.3(SELENON):c.1651C>G (p.Pro551Ala)	Eichsfeld type congenital muscular dystrophy [RCV001913786]	uncertain significance	1	25815596	25815596	Human	1	alternate_id
151846036	CV1341997	single nucleotide variant	NM_020451.3(SELENON):c.1175C>T (p.Ser392Leu)	Eichsfeld type congenital muscular dystrophy [RCV001922125]\|Inborn genetic diseases [RCV004041251]	uncertain significance	1	25811773	25811773	Human	2	alternate_id
151759196	CV1343040	single nucleotide variant	NM_020451.3(SELENON):c.761G>A (p.Arg254Gln)	Eichsfeld type congenital muscular dystrophy [RCV002024166]\|Inborn genetic diseases [RCV004046938]	uncertain significance	1	25809039	25809039	Human	2	alternate_id
151838654	CV1344833	single nucleotide variant	NM_020451.3(SELENON):c.311C>T (p.Ser104Phe)	Eichsfeld type congenital muscular dystrophy [RCV002015068]	uncertain significance	1	25802025	25802025	Human	1	alternate_id
151833808	CV1348396	single nucleotide variant	NM_020451.3(SELENON):c.521A>C (p.Lys174Thr)	Eichsfeld type congenital muscular dystrophy [RCV001880562]	uncertain significance	1	25805259	25805259	Human	1	alternate_id
151831176	CV1355897	single nucleotide variant	NM_020451.3(SELENON):c.1589C>T (p.Pro530Leu)	Eichsfeld type congenital muscular dystrophy [RCV002030820]	uncertain significance	1	25814165	25814165	Human	1	alternate_id
8660664	CV135731	single nucleotide variant	NM_020451.3(SELENON):c.409A>G (p.Thr137Ala)	Eichsfeld type congenital muscular dystrophy [RCV000530408]\|SEPN1-related disorder [RCV000319625]\|not provided [RCV001573598]\|not specified [RCV000118322]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	25805147	25805147	Human	1	trait , alternate_id
151767462	CV1367357	single nucleotide variant	NM_020451.3(SELENON):c.176C>A (p.Ala59Glu)	Eichsfeld type congenital muscular dystrophy [RCV002025034]	uncertain significance	1	25800406	25800406	Human	1	alternate_id
151810367	CV1375068	single nucleotide variant	NM_020451.3(SELENON):c.1396C>T (p.Arg466Trp)	Eichsfeld type congenital muscular dystrophy [RCV001933139]\|not provided [RCV002463070]	pathogenic\|likely pathogenic	1	25813889	25813889	Human	1	alternate_id
151856704	CV1377385	single nucleotide variant	NM_020451.3(SELENON):c.1495C>G (p.Leu499Val)	Eichsfeld type congenital muscular dystrophy [RCV001923486]	uncertain significance	1	25813988	25813988	Human	1	alternate_id
151713782	CV1379520	single nucleotide variant	NM_020451.3(SELENON):c.697G>A (p.Gly233Ser)	Eichsfeld type congenital muscular dystrophy [RCV001964814]	uncertain significance	1	25808739	25808739	Human	1	alternate_id
151768968	CV1383550	duplication	NM_020451.3(SELENON):c.1281+15_1281+25dup	Eichsfeld type congenital muscular dystrophy [RCV001874256]	uncertain significance	1	25811893	25811894	Human	1	alternate_id
151763032	CV1384304	single nucleotide variant	NM_020451.3(SELENON):c.988C>T (p.Arg330Trp)	Eichsfeld type congenital muscular dystrophy [RCV001987496]\|Eichsfeld type congenital muscular dystrophy [RCV002484731]\|not provided [RCV003407990]	uncertain significance	1	25809798	25809798	Human	1	alternate_id
151741849	CV1390752	insertion	NM_020451.3(SELENON):c.8_9insTGCCGGGCCG (p.Arg5fs)	Eichsfeld type congenital muscular dystrophy [RCV001985309]	pathogenic	1	25800232	25800233	Human	1	alternate_id
151856016	CV1392191	single nucleotide variant	NM_020451.3(SELENON):c.1055G>A (p.Ser352Asn)	Eichsfeld type congenital muscular dystrophy [RCV001883343]	uncertain significance	1	25811498	25811498	Human	1	alternate_id
151792089	CV1398612	single nucleotide variant	NM_020451.3(SELENON):c.123C>A (p.Ala41=)	Eichsfeld type congenital muscular dystrophy [RCV002010798]	likely benign\|uncertain significance	1	25800353	25800353	Human	1	alternate_id
151888903	CV1402419	single nucleotide variant	NM_020451.3(SELENON):c.28G>C (p.Gly10Arg)	Eichsfeld type congenital muscular dystrophy [RCV001942683]	uncertain significance	1	25800258	25800258	Human	1	alternate_id
151775170	CV1402508	deletion	NC_000001.10:g.(?_25870190)_(26142209_?)del	Eichsfeld type congenital muscular dystrophy [RCV001929907]	pathogenic				Human	1	alternate_id
151830985	CV1405527	single nucleotide variant	NM_020451.3(SELENON):c.1247G>A (p.Arg416Gln)	Eichsfeld type congenital muscular dystrophy [RCV001901810]\|Inborn genetic diseases [RCV004042635]	uncertain significance	1	25811845	25811845	Human	2	alternate_id
151742387	CV1409396	single nucleotide variant	NM_020451.3(SELENON):c.1649A>C (p.Lys550Thr)	Eichsfeld type congenital muscular dystrophy [RCV001893392]	uncertain significance	1	25815594	25815594	Human	1	alternate_id
151788757	CV1413082	single nucleotide variant	NM_020451.3(SELENON):c.781C>T (p.Pro261Ser)	Eichsfeld type congenital muscular dystrophy [RCV001989866]	uncertain significance	1	25809059	25809059	Human	1	alternate_id
151819989	CV1416083	single nucleotide variant	NM_020451.3(SELENON):c.538G>A (p.Val180Ile)	Eichsfeld type congenital muscular dystrophy [RCV001919471]	uncertain significance	1	25808580	25808580	Human	1	alternate_id
151822618	CV1418900	single nucleotide variant	NM_020451.3(SELENON):c.86G>A (p.Arg29His)	Eichsfeld type congenital muscular dystrophy [RCV001954909]	uncertain significance	1	25800316	25800316	Human	1	alternate_id
151866796	CV1422386	single nucleotide variant	NM_020451.3(SELENON):c.1534G>A (p.Ala512Thr)	Eichsfeld type congenital muscular dystrophy [RCV001884636]	uncertain significance	1	25814110	25814110	Human	1	alternate_id
151774151	CV1424251	single nucleotide variant	NM_020451.3(SELENON):c.1023G>A (p.Val341=)	Eichsfeld type congenital muscular dystrophy [RCV002045530]	likely benign\|uncertain significance	1	25811466	25811466	Human	1	alternate_id
151756718	CV1426190	insertion	NM_020451.3(SELENON):c.700_701insC (p.Tyr234fs)	Eichsfeld type congenital muscular dystrophy [RCV002007400]	pathogenic	1	25808742	25808743	Human	1	alternate_id
151713030	CV1428622	single nucleotide variant	NM_020451.3(SELENON):c.160G>T (p.Glu54Ter)	Eichsfeld type congenital muscular dystrophy [RCV002002358]	pathogenic	1	25800390	25800390	Human	1	alternate_id
151816515	CV1433124	single nucleotide variant	NM_020451.3(SELENON):c.1765C>T (p.Gln589Ter)	Eichsfeld type congenital muscular dystrophy [RCV001954337]	uncertain significance	1	25815710	25815710	Human	1	alternate_id
151726073	CV1438075	single nucleotide variant	NM_020451.3(SELENON):c.1129G>A (p.Val377Met)	Eichsfeld type congenital muscular dystrophy [RCV001891733]	uncertain significance	1	25811727	25811727	Human	1	alternate_id
151723414	CV1442940	microsatellite	NM_020451.3(SELENON):c.1201GAG[1] (p.Glu402del)	Eichsfeld type congenital muscular dystrophy [RCV002040380]	uncertain significance	1	25811799	25811801	Human		alternate_id
151883228	CV1443412	single nucleotide variant	NM_020451.3(SELENON):c.1337T>C (p.Leu446Pro)	Eichsfeld type congenital muscular dystrophy [RCV002037297]	uncertain significance	1	25812742	25812742	Human	1	alternate_id
151748060	CV1446007	single nucleotide variant	NM_020451.3(SELENON):c.402G>A (p.Leu134=)	Eichsfeld type congenital muscular dystrophy [RCV002042970]\|not provided [RCV002464509]	likely benign\|uncertain significance	1	25802116	25802116	Human	1	alternate_id
151832682	CV1447895	deletion	NM_020451.3(SELENON):c.18_46del (p.Gly7fs)	Eichsfeld type congenital muscular dystrophy [RCV001920644]	pathogenic	1	25800241	25800269	Human	1	alternate_id
151794553	CV1448699	single nucleotide variant	NM_020451.3(SELENON):c.472A>G (p.Ile158Val)	Eichsfeld type congenital muscular dystrophy [RCV001990386]	uncertain significance	1	25805210	25805210	Human	1	alternate_id
151756729	CV1449397	single nucleotide variant	NM_020451.3(SELENON):c.784C>T (p.Arg262Trp)	Eichsfeld type congenital muscular dystrophy [RCV001986822]\|Inborn genetic diseases [RCV003382789]	uncertain significance	1	25809062	25809062	Human	2	alternate_id
151776324	CV1449893	single nucleotide variant	NM_020451.3(SELENON):c.1049G>C (p.Ser350Thr)	Eichsfeld type congenital muscular dystrophy [RCV001864550]\|not provided [RCV002077337]	uncertain significance	1	25811492	25811492	Human	1	alternate_id
151853975	CV1453402	single nucleotide variant	NM_020451.3(SELENON):c.715C>T (p.Arg239Cys)	Eichsfeld type congenital muscular dystrophy [RCV001883103]	uncertain significance	1	25808757	25808757	Human	1	alternate_id
151852766	CV1455926	single nucleotide variant	NM_020451.3(SELENON):c.1042G>T (p.Gly348Trp)	Eichsfeld type congenital muscular dystrophy [RCV002033395]	uncertain significance	1	25811485	25811485	Human	1	alternate_id
151805298	CV1457083	single nucleotide variant	NM_020451.3(SELENON):c.136G>A (p.Val46Ile)	Eichsfeld type congenital muscular dystrophy [RCV001877744]	uncertain significance	1	25800366	25800366	Human	1	alternate_id
151718723	CV1458742	single nucleotide variant	NM_020451.3(SELENON):c.58C>T (p.Pro20Ser)	Eichsfeld type congenital muscular dystrophy [RCV002003328]	uncertain significance	1	25800288	25800288	Human	1	alternate_id
151876649	CV1461423	single nucleotide variant	NM_020451.3(SELENON):c.1603-1G>C	Eichsfeld type congenital muscular dystrophy [RCV001925899]	uncertain significance	1	25815547	25815547	Human	1	alternate_id
151774291	CV1461929	single nucleotide variant	NM_020451.3(SELENON):c.1735G>A (p.Glu579Lys)	Eichsfeld type congenital muscular dystrophy [RCV001950462]\|not specified [RCV005406221]	uncertain significance	1	25815680	25815680	Human	1	alternate_id
151779074	CV1472316	single nucleotide variant	NM_020451.3(SELENON):c.1152C>T (p.Ser384=)	Eichsfeld type congenital muscular dystrophy [RCV002026086]	likely benign\|uncertain significance	1	25811750	25811750	Human	1	alternate_id
151733399	CV1477543	single nucleotide variant	NM_020451.3(SELENON):c.1078G>T (p.Gly360Cys)	Eichsfeld type congenital muscular dystrophy [RCV001967343]	uncertain significance	1	25811521	25811521	Human	1	alternate_id
151792782	CV1482527	single nucleotide variant	NM_020451.3(SELENON):c.1500+6C>T	Eichsfeld type congenital muscular dystrophy [RCV002047262]	uncertain significance	1	25813999	25813999	Human	1	alternate_id
151847770	CV1502389	single nucleotide variant	NM_020451.3(SELENON):c.1415T>C (p.Val472Ala)	Eichsfeld type congenital muscular dystrophy [RCV001882188]	uncertain significance	1	25813908	25813908	Human	1	alternate_id
151891775	CV1503003	single nucleotide variant	NM_020451.3(SELENON):c.572G>A (p.Trp191Ter)	Eichsfeld type congenital muscular dystrophy [RCV001943491]	pathogenic	1	25808614	25808614	Human	1	alternate_id
151879631	CV1506319	single nucleotide variant	NM_020451.3(SELENON):c.611G>A (p.Arg204His)	Eichsfeld type congenital muscular dystrophy [RCV001886285]	uncertain significance	1	25808653	25808653	Human	1	alternate_id
151791611	CV1515497	duplication	NM_020451.3(SELENON):c.126_134dup (p.Ala43_Ala45dup)	Eichsfeld type congenital muscular dystrophy [RCV002027279]	uncertain significance	1	25800347	25800348	Human	1	alternate_id
152148411	CV1528846	duplication	NM_020451.3(SELENON):c.1388-7dup	Eichsfeld type congenital muscular dystrophy [RCV002101840]	likely benign	1	25813873	25813874	Human	1	alternate_id
152090102	CV1535847	single nucleotide variant	NM_020451.3(SELENON):c.468C>T (p.Leu156=)	Eichsfeld type congenital muscular dystrophy [RCV002150480]	likely benign	1	25805206	25805206	Human	1	alternate_id
152162194	CV1543898	single nucleotide variant	NM_020451.3(SELENON):c.1092+7G>A	Eichsfeld type congenital muscular dystrophy [RCV002159838]	likely benign	1	25811542	25811542	Human	1	alternate_id
152048281	CV1549728	single nucleotide variant	NM_020451.3(SELENON):c.675C>T (p.Pro225=)	Eichsfeld type congenital muscular dystrophy [RCV002166532]	likely benign	1	25808717	25808717	Human	1	alternate_id
152090145	CV1550565	single nucleotide variant	NM_020451.3(SELENON):c.657G>A (p.Glu219=)	Eichsfeld type congenital muscular dystrophy [RCV002131943]	likely benign	1	25808699	25808699	Human	1	alternate_id
152072675	CV1551680	single nucleotide variant	NM_020451.3(SELENON):c.184-10T>C	Eichsfeld type congenital muscular dystrophy [RCV002075313]	likely benign	1	25801033	25801033	Human	1	alternate_id
152060759	CV1557404	single nucleotide variant	NM_020451.3(SELENON):c.897T>C (p.Ser299=)	Eichsfeld type congenital muscular dystrophy [RCV002146745]	likely benign	1	25809707	25809707	Human	1	alternate_id
152170982	CV1562036	single nucleotide variant	NM_020451.3(SELENON):c.660C>A (p.Pro220=)	Eichsfeld type congenital muscular dystrophy [RCV002161949]	likely benign	1	25808702	25808702	Human	1	alternate_id
152138449	CV1562643	single nucleotide variant	NM_020451.3(SELENON):c.302-18T>C	Eichsfeld type congenital muscular dystrophy [RCV002100434]	likely benign	1	25801998	25801998	Human	1	alternate_id
152174878	CV1572764	single nucleotide variant	NM_020451.3(SELENON):c.633C>A (p.Pro211=)	Eichsfeld type congenital muscular dystrophy [RCV002144586]	likely benign	1	25808675	25808675	Human	1	alternate_id
152088876	CV1577263	single nucleotide variant	NM_020451.3(SELENON):c.872+17G>T	Eichsfeld type congenital muscular dystrophy [RCV002212444]	likely benign	1	25809167	25809167	Human	1	alternate_id
152064876	CV1583276	single nucleotide variant	NM_020451.3(SELENON):c.1387+12G>A	Eichsfeld type congenital muscular dystrophy [RCV002110636]	likely benign	1	25812804	25812804	Human	1	alternate_id
152142166	CV1586510	single nucleotide variant	NM_020451.3(SELENON):c.538-4C>G	Eichsfeld type congenital muscular dystrophy [RCV002178199]	likely benign	1	25808576	25808576	Human	1	alternate_id
152048603	CV1615009	single nucleotide variant	NM_020451.3(SELENON):c.903G>A (p.Pro301=)	Eichsfeld type congenital muscular dystrophy [RCV002088854]	likely benign	1	25809713	25809713	Human	1	alternate_id
152147400	CV1615658	single nucleotide variant	NM_020451.3(SELENON):c.216C>T (p.Gly72=)	Eichsfeld type congenital muscular dystrophy [RCV002101690]	likely benign	1	25801075	25801075	Human	1	alternate_id
152053391	CV1619397	single nucleotide variant	NM_020451.3(SELENON):c.882C>G (p.Ala294=)	Eichsfeld type congenital muscular dystrophy [RCV002167149]	likely benign	1	25809692	25809692	Human	1	alternate_id
152080736	CV1623125	single nucleotide variant	NM_020451.3(SELENON):c.538-10C>T	Eichsfeld type congenital muscular dystrophy [RCV002170501]	likely benign	1	25808570	25808570	Human	1	alternate_id
152027423	CV1626914	single nucleotide variant	NM_020451.3(SELENON):c.747+20G>A	Eichsfeld type congenital muscular dystrophy [RCV002185494]	likely benign	1	25808809	25808809	Human	1	alternate_id
152099701	CV1627314	single nucleotide variant	NM_020451.3(SELENON):c.1518G>A (p.Ser506=)	Eichsfeld type congenital muscular dystrophy [RCV002095355]	likely benign	1	25814094	25814094	Human	1	alternate_id
152025658	CV1627389	single nucleotide variant	NM_020451.3(SELENON):c.1282-10G>A	Eichsfeld type congenital muscular dystrophy [RCV002104284]\|SELENON-related disorder [RCV003971013]\|not provided [RCV003408139]	benign\|likely benign	1	25812677	25812677	Human	1	alternate_id
152096589	CV1627936	single nucleotide variant	NM_020451.3(SELENON):c.582C>T (p.Ala194=)	Eichsfeld type congenital muscular dystrophy [RCV002195001]	likely benign	1	25808624	25808624	Human	1	alternate_id
152034024	CV1634713	deletion	NM_020451.3(SELENON):c.748-12del	Eichsfeld type congenital muscular dystrophy [RCV002086902]	likely benign	1	25809012	25809012	Human	1	alternate_id
152080060	CV1649884	single nucleotide variant	NM_020451.3(SELENON):c.404-18G>A	Eichsfeld type congenital muscular dystrophy [RCV002092727]	likely benign	1	25805124	25805124	Human	1	alternate_id
152129438	CV1650576	single nucleotide variant	NM_020451.3(SELENON):c.1603-9T>C	Eichsfeld type congenital muscular dystrophy [RCV002118879]	likely benign	1	25815539	25815539	Human	1	alternate_id
152114293	CV1651167	single nucleotide variant	NM_020451.3(SELENON):c.909C>T (p.Asp303=)	Eichsfeld type congenital muscular dystrophy [RCV002153458]	likely benign	1	25809719	25809719	Human	1	alternate_id
152089153	CV1655833	single nucleotide variant	NM_020451.3(SELENON):c.420C>G (p.Ala140=)	Eichsfeld type congenital muscular dystrophy [RCV002194068]	likely benign	1	25805158	25805158	Human	1	alternate_id
152145141	CV1658278	single nucleotide variant	NM_020451.3(SELENON):c.1311C>T (p.Phe437=)	Eichsfeld type congenital muscular dystrophy [RCV002219923]	likely benign	1	25812716	25812716	Human	1	alternate_id
152113472	CV1659459	single nucleotide variant	NM_020451.3(SELENON):c.1282-12G>A	Eichsfeld type congenital muscular dystrophy [RCV002080569]	likely benign	1	25812675	25812675	Human	1	alternate_id
152066785	CV1659992	single nucleotide variant	NM_020451.3(SELENON):c.1388-8C>G	Eichsfeld type congenital muscular dystrophy [RCV002147534]	likely benign	1	25813873	25813873	Human	1	alternate_id
153349917	CV1693488	single nucleotide variant	NM_020451.3(SELENON):c.2T>A (p.Met1Lys)	Eichsfeld type congenital muscular dystrophy [RCV004596532]\|not provided [RCV002276349]	pathogenic\|likely pathogenic	1	25800232	25800232	Human	1	alternate_id
153349521	CV1693489	single nucleotide variant	NM_020451.3(SELENON):c.817G>A (p.Gly273Arg)	Eichsfeld type congenital muscular dystrophy [RCV002290859]\|not provided [RCV002275929]	pathogenic\|likely pathogenic	1	25809095	25809095	Human	1	alternate_id
155266843	CV1697463	deletion	NM_020451.3(SELENON):c.773del (p.Met258fs)	Eichsfeld type congenital muscular dystrophy [RCV002281602]	pathogenic	1	25809051	25809051	Human	1	alternate_id
9691384	CV172199	single nucleotide variant	NM_020451.3(SELENON):c.716G>A (p.Arg239His)	Eichsfeld type congenital muscular dystrophy [RCV000797996]\|Inborn genetic diseases [RCV004019797]\|SEPN1-related disorder [RCV000389179]\|not provided [RCV003137649]	uncertain significance	1	25808758	25808758	Human	2	trait , alternate_id
9691385	CV172200	single nucleotide variant	NM_020451.3(SELENON):c.1075A>G (p.Ile359Val)	Eichsfeld type congenital muscular dystrophy [RCV001229230]\|Inborn genetic diseases [RCV004019798]	uncertain significance	1	25811518	25811518	Human	2	alternate_id
9693336	CV177062	single nucleotide variant	NM_020451.3(SELENON):c.1450G>A (p.Glu484Lys)	Eichsfeld type congenital muscular dystrophy [RCV003485544]\|not provided [RCV000153936]	uncertain significance	1	25813943	25813943	Human	1	alternate_id
9693335	CV177193	single nucleotide variant	NM_020451.3(SELENON):c.581C>T (p.Ala194Val)	Eichsfeld type congenital muscular dystrophy [RCV000556940]\|not provided [RCV000153935]	uncertain significance	1	25808623	25808623	Human	1	alternate_id
156180803	CV1868324	single nucleotide variant	NM_020451.3(SELENON):c.975C>T (p.His325=)	Eichsfeld type congenital muscular dystrophy [RCV003041337]	likely benign	1	25809785	25809785	Human	1	alternate_id
156386936	CV1875087	single nucleotide variant	NM_020451.3(SELENON):c.1010+18G>A	Eichsfeld type congenital muscular dystrophy [RCV003050939]	likely benign	1	25809838	25809838	Human	1	alternate_id
156388026	CV1875739	single nucleotide variant	NM_020451.3(SELENON):c.1602+17A>G	Eichsfeld type congenital muscular dystrophy [RCV003051030]	likely benign	1	25814195	25814195	Human	1	alternate_id
156378474	CV1876688	single nucleotide variant	NM_020451.3(SELENON):c.1270C>A (p.Pro424Thr)	Eichsfeld type congenital muscular dystrophy [RCV003066948]	uncertain significance	1	25811868	25811868	Human	1	alternate_id
156014446	CV1876932	single nucleotide variant	NM_020451.3(SELENON):c.553C>T (p.Leu185=)	Eichsfeld type congenital muscular dystrophy [RCV003077281]	likely benign	1	25808595	25808595	Human	1	alternate_id
156150870	CV1878964	single nucleotide variant	NM_020451.3(SELENON):c.28G>A (p.Gly10Arg)	Eichsfeld type congenital muscular dystrophy [RCV003056527]	uncertain significance	1	25800258	25800258	Human	1	alternate_id
156288975	CV1881660	single nucleotide variant	NM_020451.3(SELENON):c.544C>T (p.Arg182Cys)	Eichsfeld type congenital muscular dystrophy [RCV003061368]\|Inborn genetic diseases [RCV004071698]	uncertain significance	1	25808586	25808586	Human	2	alternate_id
156410642	CV1882652	single nucleotide variant	NM_020451.3(SELENON):c.1674C>T (p.Leu558=)	Eichsfeld type congenital muscular dystrophy [RCV003072154]	likely benign	1	25815619	25815619	Human	1	alternate_id
156290614	CV1886886	single nucleotide variant	NM_020451.3(SELENON):c.636G>A (p.Pro212=)	Eichsfeld type congenital muscular dystrophy [RCV003087470]	likely benign	1	25808678	25808678	Human	1	alternate_id
156043916	CV1887325	single nucleotide variant	NM_020451.3(SELENON):c.906C>T (p.Pro302=)	Eichsfeld type congenital muscular dystrophy [RCV003078628]	likely benign	1	25809716	25809716	Human	1	alternate_id
156245798	CV1890329	single nucleotide variant	NM_020451.3(SELENON):c.1189C>T (p.Gln397Ter)	Eichsfeld type congenital muscular dystrophy [RCV003085918]	pathogenic	1	25811787	25811787	Human	1	alternate_id
156386767	CV1890330	single nucleotide variant	NM_020451.3(SELENON):c.1730T>C (p.Leu577Pro)	Eichsfeld type congenital muscular dystrophy [RCV003093755]\|not specified [RCV003479470]	uncertain significance	1	25815675	25815675	Human	1	alternate_id
156242820	CV1893798	single nucleotide variant	NM_020451.3(SELENON):c.1004A>G (p.Asn335Ser)	Eichsfeld type congenital muscular dystrophy [RCV003085810]	uncertain significance	1	25809814	25809814	Human	1	alternate_id
155992278	CV1894449	single nucleotide variant	NM_020451.3(SELENON):c.1764C>T (p.Leu588=)	Eichsfeld type congenital muscular dystrophy [RCV003076170]	likely benign	1	25815709	25815709	Human	1	alternate_id
156091070	CV1895544	single nucleotide variant	NM_020451.3(SELENON):c.377A>G (p.Asn126Ser)	Eichsfeld type congenital muscular dystrophy [RCV003080218]	uncertain significance	1	25802091	25802091	Human	1	alternate_id
156362660	CV1899154	single nucleotide variant	NM_020451.3(SELENON):c.1759C>G (p.Leu587Val)	Eichsfeld type congenital muscular dystrophy [RCV003091816]	uncertain significance	1	25815704	25815704	Human	1	alternate_id
156373461	CV1901904	single nucleotide variant	NM_020451.3(SELENON):c.1691C>T (p.Thr564Ile)	Eichsfeld type congenital muscular dystrophy [RCV003092660]	uncertain significance	1	25815636	25815636	Human	1	alternate_id
156337316	CV1902294	single nucleotide variant	NM_020451.3(SELENON):c.1761C>T (p.Leu587=)	Eichsfeld type congenital muscular dystrophy [RCV003090144]	likely benign	1	25815706	25815706	Human	1	alternate_id
10047585	CV190593	duplication	NM_020451.3(SELENON):c.44_72dup (p.Arg25fs)	Eichsfeld type congenital muscular dystrophy [RCV001248662]\|not provided [RCV000173498]	pathogenic	1	25800270	25800271	Human	1	alternate_id
10049552	CV190595	single nucleotide variant	NM_020451.3(SELENON):c.183+14C>G	Eichsfeld type congenital muscular dystrophy [RCV001852110]\|not provided [RCV000173500]	uncertain significance	1	25800427	25800427	Human	1	alternate_id
10047586	CV190596	duplication	NM_020451.3(SELENON):c.13_22dup (p.Gln8fs)	Eichsfeld type congenital muscular dystrophy [RCV000820386]\|not provided [RCV000173501]	pathogenic	1	25800233	25800234	Human	1	alternate_id
156366528	CV1908540	single nucleotide variant	NM_020451.3(SELENON):c.403+14C>T	Eichsfeld type congenital muscular dystrophy [RCV002582102]	likely benign	1	25802131	25802131	Human	1	alternate_id
10049882	CV191079	single nucleotide variant	NM_020451.3(SELENON):c.1428G>A (p.Ser476=)	Eichsfeld type congenital muscular dystrophy [RCV001086102]\|SEPN1-related disorder [RCV001101132]\|not provided [RCV000724226]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	25813921	25813921	Human	1	trait , alternate_id
156405375	CV1913071	single nucleotide variant	NM_020451.3(SELENON):c.577G>A (p.Ala193Thr)	Eichsfeld type congenital muscular dystrophy [RCV002606315]	uncertain significance	1	25808619	25808619	Human	1	alternate_id
156026126	CV1917669	single nucleotide variant	NM_020451.3(SELENON):c.99G>T (p.Leu33=)	Eichsfeld type congenital muscular dystrophy [RCV002619638]	likely benign	1	25800329	25800329	Human	1	alternate_id
156086548	CV1919538	single nucleotide variant	NM_020451.3(SELENON):c.703C>T (p.Leu235=)	Eichsfeld type congenital muscular dystrophy [RCV002591756]	likely benign	1	25808745	25808745	Human	1	alternate_id
10050839	CV192524	single nucleotide variant	NM_020451.3(SELENON):c.253A>G (p.Met85Val)	Eichsfeld type congenital muscular dystrophy [RCV000706898]\|Inborn genetic diseases [RCV003242998]\|not provided [RCV000175926]	uncertain significance	1	25801112	25801112	Human	2	alternate_id
156045616	CV1927086	single nucleotide variant	NM_020451.3(SELENON):c.94G>C (p.Ala32Pro)	Eichsfeld type congenital muscular dystrophy [RCV002637746]	uncertain significance	1	25800324	25800324	Human	1	alternate_id
156045642	CV1927087	single nucleotide variant	NM_020451.3(SELENON):c.872+13C>T	Eichsfeld type congenital muscular dystrophy [RCV002637747]	likely benign	1	25809163	25809163	Human	1	alternate_id
156444520	CV1938381	deletion	NM_020451.3(SELENON):c.142del (p.Val48fs)	Eichsfeld type congenital muscular dystrophy [RCV003115444]\|not provided [RCV004725640]	pathogenic\|likely pathogenic	1	25800370	25800370	Human	1	alternate_id
156441750	CV1941405	deletion	NM_020451.3(SELENON):c.-30_64del (p.Met1fs)	Eichsfeld type congenital muscular dystrophy [RCV003112082]	pathogenic	1	25800196	25800289	Human	1	alternate_id
156441487	CV1944144	single nucleotide variant	NM_020451.3(SELENON):c.152G>A (p.Arg51His)	Eichsfeld type congenital muscular dystrophy [RCV003111813]	uncertain significance	1	25800382	25800382	Human	1	alternate_id
156439738	CV1946462	duplication	NC_000001.10:g.(?_26128487)_(26128628_?)dup	Eichsfeld type congenital muscular dystrophy [RCV003109704]	uncertain significance				Human	1	alternate_id
10048892	CV195002	duplication	Single allele	Congenital myopathy with fiber type disproportion [RCV000178976]\|Eichsfeld type congenital muscular dystrophy [RCV000178975]	pathogenic				Human		alternate_id
8596449	CV19528	single nucleotide variant	NM_020451.3(SELENON):c.818G>A (p.Gly273Glu)	Eichsfeld type congenital muscular dystrophy [RCV000004746]	pathogenic	1	25809096	25809096	Human	1	alternate_id
8596450	CV19529	single nucleotide variant	NM_020451.2(SELENON):c.1385G>A (p.Sec462=)	Eichsfeld type congenital muscular dystrophy [RCV000004747]	pathogenic	1	25812790	25812790	Human	1	alternate_id
8596451	CV19530	single nucleotide variant	NM_020451.3(SELENON):c.1A>G (p.Met1Val)	Congenital myopathy with fiber type disproportion [RCV002288464]\|Eichsfeld type congenital muscular dystrophy [RCV000004748]\|Eichsfeld type congenital muscular dystrophy [RCV002504747]\|not provided [RCV000482307]	pathogenic\|likely pathogenic	1	25800231	25800231	Human	2	alternate_id
8596452	CV19531	single nucleotide variant	NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln)	Eichsfeld type congenital muscular dystrophy [RCV000004749]\|Muscular dystrophy [RCV001195543]\|SEPN1-related disorder [RCV000778977]\|not provided [RCV000413832]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	25813890	25813890	Human	3	trait , alternate_id
8596453	CV19532	single nucleotide variant	NM_020451.3(SELENON):c.1358G>C (p.Trp453Ser)	Eichsfeld type congenital muscular dystrophy [RCV000004750]	pathogenic\|likely pathogenic	1	25812763	25812763	Human	1	alternate_id
8596454	CV19533	duplication	NM_020451.3(SELENON):c.713dup (p.Asn238fs)	Eichsfeld type congenital muscular dystrophy [RCV000004751]\|Eichsfeld type congenital muscular dystrophy [RCV001353048]\|SELENON-related disorder [RCV004757096]\|not provided [RCV000277917]	pathogenic	1	25808753	25808754	Human	3	alternate_id
8596455	CV19534	single nucleotide variant	NM_020451.3(SELENON):c.1384T>G	Eichsfeld type congenital muscular dystrophy [RCV000004752]	pathogenic	1	25812789	25812789	Human	1	alternate_id
8596456	CV19535	single nucleotide variant	NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)	Congenital myopathy with fiber type disproportion [RCV000004754]\|Eichsfeld type congenital muscular dystrophy [RCV000004753]\|Eichsfeld type congenital muscular dystrophy [RCV000681664]\|Eichsfeld type congenital muscular dystrophy [RCV003224794]\|SELENON-related myopathy [RCV003993737]\|SEPN1 ... (more) nt-weight:700;'>SEPN1-related disorder [RCV000778235]\|not provided [RCV000082020]	pathogenic\|likely pathogenic	1	25809753	25809753	Human	4	trait , alternate_id
10049006	CV195398	single nucleotide variant	NM_020451.3(SELENON):c.846C>T (p.Ser282=)	Eichsfeld type congenital muscular dystrophy [RCV000534461]\|not provided [RCV004546450]\|not specified [RCV000179509]	benign\|likely benign	1	25809124	25809124	Human	1	alternate_id
10049007	CV195399	single nucleotide variant	NM_020451.3(SELENON):c.872+2T>C	Eichsfeld type congenital muscular dystrophy [RCV002516794]\|not provided [RCV000179510]	pathogenic\|likely pathogenic\|uncertain significance	1	25809152	25809152	Human	1	alternate_id
10049264	CV196315	single nucleotide variant	NM_020451.3(SELENON):c.1096G>T (p.Glu366Ter)	Eichsfeld type congenital muscular dystrophy [RCV002516827]\|not provided [RCV000180670]	pathogenic\|likely pathogenic	1	25811694	25811694	Human	1	alternate_id
156342128	CV1974167	single nucleotide variant	NM_020451.3(SELENON):c.1653C>T (p.Pro551=)	Eichsfeld type congenital muscular dystrophy [RCV002601337]	likely benign	1	25815598	25815598	Human	1	alternate_id
155903158	CV1975796	single nucleotide variant	NM_020451.3(SELENON):c.1269C>T (p.Tyr423=)	Eichsfeld type congenital muscular dystrophy [RCV002613512]	likely benign	1	25811867	25811867	Human	1	alternate_id
156321261	CV1976097	single nucleotide variant	NM_020451.3(SELENON):c.1662C>T (p.Ile554=)	Eichsfeld type congenital muscular dystrophy [RCV002600245]	likely benign	1	25815607	25815607	Human	1	alternate_id
156390723	CV1996248	single nucleotide variant	NM_020451.3(SELENON):c.538-8C>A	Eichsfeld type congenital muscular dystrophy [RCV002654355]	uncertain significance	1	25808572	25808572	Human	1	alternate_id
156269233	CV2004015	single nucleotide variant	NM_020451.3(SELENON):c.1299C>T (p.Phe433=)	Eichsfeld type congenital muscular dystrophy [RCV002646476]	likely benign	1	25812704	25812704	Human	1	alternate_id
156355442	CV2008924	single nucleotide variant	NM_020451.3(SELENON):c.748-11G>A	Eichsfeld type congenital muscular dystrophy [RCV002720494]	likely benign	1	25809015	25809015	Human	1	alternate_id
156295934	CV2017053	single nucleotide variant	NM_020451.3(SELENON):c.651G>A (p.Leu217=)	Eichsfeld type congenital muscular dystrophy [RCV002715843]\|not provided [RCV004584979]	likely benign\|uncertain significance	1	25808693	25808693	Human	1	alternate_id
156067004	CV2018384	single nucleotide variant	NM_020451.3(SELENON):c.1092+8C>T	Eichsfeld type congenital muscular dystrophy [RCV002705562]	likely benign	1	25811543	25811543	Human	1	alternate_id
156074314	CV2029231	single nucleotide variant	NM_020451.3(SELENON):c.559G>A (p.Gly187Ser)	Eichsfeld type congenital muscular dystrophy [RCV002760418]	uncertain significance	1	25808601	25808601	Human	1	alternate_id
156237475	CV2031700	single nucleotide variant	NM_020451.3(SELENON):c.872+15C>A	Eichsfeld type congenital muscular dystrophy [RCV002745545]	likely benign	1	25809165	25809165	Human	1	alternate_id
156126631	CV2036352	single nucleotide variant	NM_020451.3(SELENON):c.1602+18G>A	Eichsfeld type congenital muscular dystrophy [RCV002786004]	likely benign	1	25814196	25814196	Human	1	alternate_id
156146761	CV2037397	single nucleotide variant	NM_020451.3(SELENON):c.473T>C (p.Ile158Thr)	Eichsfeld type congenital muscular dystrophy [RCV002786716]	uncertain significance	1	25805211	25805211	Human	1	alternate_id
156120651	CV2039486	single nucleotide variant	NM_020451.3(SELENON):c.301+5C>T	Eichsfeld type congenital muscular dystrophy [RCV002800212]	uncertain significance	1	25801165	25801165	Human	1	alternate_id
156207926	CV2042367	single nucleotide variant	NM_020451.3(SELENON):c.54G>T (p.Ala18=)	Eichsfeld type congenital muscular dystrophy [RCV002766488]	likely benign	1	25800284	25800284	Human	1	alternate_id
156135267	CV2044311	single nucleotide variant	NM_020451.3(SELENON):c.747+19C>T	Eichsfeld type congenital muscular dystrophy [RCV002786321]	likely benign	1	25808808	25808808	Human	1	alternate_id
155997231	CV2045321	single nucleotide variant	NM_020451.3(SELENON):c.1282-3C>T	Eichsfeld type congenital muscular dystrophy [RCV002756022]	uncertain significance	1	25812684	25812684	Human	1	alternate_id
156019846	CV2046973	single nucleotide variant	NM_020451.3(SELENON):c.271G>A (p.Glu91Lys)	Eichsfeld type congenital muscular dystrophy [RCV002780594]	uncertain significance	1	25801130	25801130	Human	1	alternate_id
155964367	CV2048580	single nucleotide variant	NM_020451.3(SELENON):c.1011-10G>A	Eichsfeld type congenital muscular dystrophy [RCV002776416]	likely benign	1	25811444	25811444	Human	1	alternate_id
156057110	CV2050651	single nucleotide variant	NM_020451.3(SELENON):c.184-18G>A	Eichsfeld type congenital muscular dystrophy [RCV002796965]	likely benign	1	25801025	25801025	Human	1	alternate_id
155939272	CV2054808	duplication	NM_020451.3(SELENON):c.963dup (p.Asp322fs)	Eichsfeld type congenital muscular dystrophy [RCV002815580]	pathogenic	1	25809770	25809771	Human	1	alternate_id
156160503	CV2060228	single nucleotide variant	NM_020451.3(SELENON):c.30G>C (p.Gly10=)	Eichsfeld type congenital muscular dystrophy [RCV002801613]	likely benign	1	25800260	25800260	Human	1	alternate_id
10403858	CV206785	single nucleotide variant	NM_020451.3(SELENON):c.415G>A (p.Ala139Thr)	Eichsfeld type congenital muscular dystrophy [RCV000543024]\|Eichsfeld type congenital muscular dystrophy [RCV002492881]\|SEPN1-related disorder [RCV001097302]\|not provided [RCV000725931]\|not specified [RCV000193575]	conflicting interpretations of pathogenicity\|uncertain significance	1	25805153	25805153	Human	1	trait , alternate_id
10408248	CV206786	duplication	NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer)	Congenital myopathy 4A, autosomal dominant [RCV003338457]\|Congenital myopathy with fiber type disproportion [RCV000192616]\|Eichsfeld type congenital muscular dystrophy [RCV002517132]\|not provided [RCV000599220]	likely pathogenic	1	25809104	25809105	Human	2	alternate_id
10404210	CV206787	single nucleotide variant	NM_020451.3(SELENON):c.1092+6C>G	Eichsfeld type congenital muscular dystrophy [RCV000532540]\|SEPN1-related disorder [RCV000345511]\|not provided [RCV001795313]\|not specified [RCV000194503]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	25811541	25811541	Human	1	trait , alternate_id
10406425	CV206788	single nucleotide variant	NM_020451.3(SELENON):c.1350C>G (p.Ile450Met)	Eichsfeld type congenital muscular dystrophy [RCV003485555]\|Inborn genetic diseases [RCV004020341]\|not specified [RCV000192534]	uncertain significance	1	25812755	25812755	Human	2	alternate_id
156134313	CV2069310	single nucleotide variant	NM_020451.3(SELENON):c.108C>T (p.Ala36=)	Eichsfeld type congenital muscular dystrophy [RCV002825785]	likely benign	1	25800338	25800338	Human	1	alternate_id
156012954	CV2071945	single nucleotide variant	NM_020451.3(SELENON):c.296T>A (p.Leu99Gln)	Eichsfeld type congenital muscular dystrophy [RCV002843974]	uncertain significance	1	25801155	25801155	Human	1	alternate_id
155943888	CV2072434	single nucleotide variant	NM_020451.3(SELENON):c.184-3C>G	Eichsfeld type congenital muscular dystrophy [RCV002861954]	uncertain significance	1	25801040	25801040	Human	1	alternate_id
155972765	CV2079319	single nucleotide variant	NM_020451.3(SELENON):c.302-16T>G	Eichsfeld type congenital muscular dystrophy [RCV002881563]	likely benign	1	25802000	25802000	Human	1	alternate_id
156048152	CV2091310	single nucleotide variant	NM_020451.3(SELENON):c.1159G>A (p.Asp387Asn)	Eichsfeld type congenital muscular dystrophy [RCV002886068]	uncertain significance	1	25811757	25811757	Human	1	alternate_id
155997998	CV2092029	single nucleotide variant	NM_020451.3(SELENON):c.549C>T (p.Leu183=)	Eichsfeld type congenital muscular dystrophy [RCV002908483]	likely benign	1	25808591	25808591	Human	1	alternate_id
156327300	CV2094518	single nucleotide variant	NM_020451.3(SELENON):c.1602+10C>G	Eichsfeld type congenital muscular dystrophy [RCV002899706]	likely benign	1	25814188	25814188	Human	1	alternate_id
156331306	CV2094825	single nucleotide variant	NM_020451.3(SELENON):c.464C>T (p.Thr155Met)	Eichsfeld type congenital muscular dystrophy [RCV002899941]\|Inborn genetic diseases [RCV003348926]	uncertain significance	1	25805202	25805202	Human	2	alternate_id
155928045	CV2095841	single nucleotide variant	NM_020451.3(SELENON):c.1010+7G>A	Eichsfeld type congenital muscular dystrophy [RCV002903673]	likely benign	1	25809827	25809827	Human	1	alternate_id
156152273	CV2101412	single nucleotide variant	NM_020451.3(SELENON):c.821C>G (p.Ala274Gly)	Eichsfeld type congenital muscular dystrophy [RCV002890692]	uncertain significance	1	25809099	25809099	Human	1	alternate_id
155995217	CV2109240	single nucleotide variant	NM_020451.3(SELENON):c.339C>T (p.Cys113=)	Eichsfeld type congenital muscular dystrophy [RCV002947525]	likely benign	1	25802053	25802053	Human	1	alternate_id
156139639	CV2109832	single nucleotide variant	NM_020451.3(SELENON):c.608C>A (p.Thr203Asn)	Eichsfeld type congenital muscular dystrophy [RCV002928506]	uncertain significance	1	25808650	25808650	Human	1	alternate_id
156126329	CV2112353	single nucleotide variant	NM_020451.3(SELENON):c.1207A>G (p.Ile403Val)	Eichsfeld type congenital muscular dystrophy [RCV002928019]	uncertain significance	1	25811805	25811805	Human	1	alternate_id
156028622	CV2116695	single nucleotide variant	NM_020451.3(SELENON):c.1500+16G>A	Eichsfeld type congenital muscular dystrophy [RCV002923411]	likely benign\|uncertain significance	1	25814009	25814009	Human	1	alternate_id
156100294	CV2117136	single nucleotide variant	NM_020451.3(SELENON):c.542C>T (p.Ser181Phe)	Eichsfeld type congenital muscular dystrophy [RCV002952715]	uncertain significance	1	25808584	25808584	Human	1	alternate_id
156389727	CV2122341	single nucleotide variant	NM_020451.3(SELENON):c.1524C>G (p.His508Gln)	Eichsfeld type congenital muscular dystrophy [RCV002943771]\|Inborn genetic diseases [RCV004068113]	uncertain significance	1	25814100	25814100	Human	2	alternate_id
156009141	CV2124458	single nucleotide variant	NM_020451.3(SELENON):c.1355T>C (p.Leu452Pro)	Eichsfeld type congenital muscular dystrophy [RCV002948167]	uncertain significance	1	25812760	25812760	Human	1	alternate_id
156138784	CV2129306	single nucleotide variant	NM_020451.3(SELENON):c.1377G>C (p.Gln459His)	Eichsfeld type congenital muscular dystrophy [RCV002954150]	uncertain significance	1	25812782	25812782	Human	1	alternate_id
156208137	CV2131418	single nucleotide variant	NM_020451.3(SELENON):c.367C>T (p.Pro123Ser)	Eichsfeld type congenital muscular dystrophy [RCV002985480]	uncertain significance	1	25802081	25802081	Human	1	alternate_id
156285912	CV2134135	single nucleotide variant	NM_020451.3(SELENON):c.1059C>T (p.Ser353=)	Eichsfeld type congenital muscular dystrophy [RCV003009768]	likely benign	1	25811502	25811502	Human	1	alternate_id
156025290	CV2139134	single nucleotide variant	NM_020451.3(SELENON):c.1662C>G (p.Ile554Met)	Eichsfeld type congenital muscular dystrophy [RCV002998885]	uncertain significance	1	25815607	25815607	Human	1	alternate_id
155905655	CV2148062	single nucleotide variant	NM_020451.3(SELENON):c.672C>A (p.Ile224=)	Eichsfeld type congenital muscular dystrophy [RCV003011903]	likely benign	1	25808714	25808714	Human	1	alternate_id
156105479	CV2149367	single nucleotide variant	NM_020451.3(SELENON):c.246C>T (p.Asp82=)	Eichsfeld type congenital muscular dystrophy [RCV003021201]	likely benign	1	25801105	25801105	Human	1	alternate_id
156000747	CV2149495	single nucleotide variant	NM_020451.3(SELENON):c.184-12C>T	Eichsfeld type congenital muscular dystrophy [RCV002997005]	likely benign	1	25801031	25801031	Human	1	alternate_id
156301843	CV2149982	single nucleotide variant	NM_020451.3(SELENON):c.1118C>G (p.Ser373Cys)	Eichsfeld type congenital muscular dystrophy [RCV003028131]	uncertain significance	1	25811716	25811716	Human	1	alternate_id
156151565	CV2150487	duplication	NM_020451.3(SELENON):c.403+15dup	Eichsfeld type congenital muscular dystrophy [RCV003022868]	likely benign	1	25802131	25802132	Human	1	alternate_id
156230260	CV2156713	single nucleotide variant	NM_020451.3(SELENON):c.1282-1G>T	Eichsfeld type congenital muscular dystrophy [RCV003025615]	pathogenic	1	25812686	25812686	Human	1	alternate_id
155939855	CV2157897	insertion	NM_020451.3(SELENON):c.1421_1422insC (p.Glu474fs)	Eichsfeld type congenital muscular dystrophy [RCV003014192]	uncertain significance	1	25813914	25813915	Human	1	alternate_id
156000055	CV2159370	single nucleotide variant	NM_020451.3(SELENON):c.1388-6G>C	Eichsfeld type congenital muscular dystrophy [RCV003017229]	likely benign	1	25813875	25813875	Human	1	alternate_id
156310244	CV2164005	single nucleotide variant	NM_020451.3(SELENON):c.1388-12C>T	Eichsfeld type congenital muscular dystrophy [RCV003045988]	likely benign	1	25813869	25813869	Human	1	alternate_id
156102703	CV2164460	deletion	NM_020451.3(SELENON):c.-21_183+6del	Eichsfeld type congenital muscular dystrophy [RCV003038643]	pathogenic	1	25800206	25800415	Human	1	alternate_id
156069429	CV2167225	single nucleotide variant	NM_020451.3(SELENON):c.748-12C>T	Eichsfeld type congenital muscular dystrophy [RCV003019993]	likely benign	1	25809014	25809014	Human	1	alternate_id
156220458	CV2173199	single nucleotide variant	NM_020451.3(SELENON):c.156C>T (p.His52=)	Eichsfeld type congenital muscular dystrophy [RCV003025172]	likely benign	1	25800386	25800386	Human	1	alternate_id
156247495	CV2174366	single nucleotide variant	NM_020451.3(SELENON):c.1297T>G (p.Phe433Val)	Eichsfeld type congenital muscular dystrophy [RCV003043668]	uncertain significance	1	25812702	25812702	Human	1	alternate_id
156193850	CV2175384	single nucleotide variant	NM_020451.3(SELENON):c.167A>C (p.Gln56Pro)	Eichsfeld type congenital muscular dystrophy [RCV003057926]	uncertain significance	1	25800397	25800397	Human	1	alternate_id
156008306	CV2175703	single nucleotide variant	NM_020451.3(SELENON):c.1301C>G (p.Thr434Ser)	Eichsfeld type congenital muscular dystrophy [RCV003035100]	uncertain significance	1	25812706	25812706	Human	1	alternate_id
156295499	CV2183297	single nucleotide variant	NM_020451.3(SELENON):c.1650G>C (p.Lys550Asn)	Eichsfeld type congenital muscular dystrophy [RCV003027854]	uncertain significance	1	25815595	25815595	Human	1	alternate_id
155959721	CV2183362	single nucleotide variant	NM_020451.3(SELENON):c.1504A>T (p.Asn502Tyr)	Eichsfeld type congenital muscular dystrophy [RCV003032880]	uncertain significance	1	25814080	25814080	Human	1	alternate_id
156128738	CV2184894	single nucleotide variant	NM_020451.3(SELENON):c.795G>A (p.Val265=)	Eichsfeld type congenital muscular dystrophy [RCV003039611]	uncertain significance	1	25809073	25809073	Human	1	alternate_id
156363895	CV2186924	single nucleotide variant	NM_020451.3(SELENON):c.1281+7C>T	Eichsfeld type congenital muscular dystrophy [RCV003065820]	likely benign	1	25811886	25811886	Human	1	alternate_id
156042639	CV2188057	single nucleotide variant	NM_020451.3(SELENON):c.1108A>T (p.Thr370Ser)	Eichsfeld type congenital muscular dystrophy [RCV003036629]\|not provided [RCV004584989]	uncertain significance	1	25811706	25811706	Human	1	alternate_id
156203702	CV2401377	single nucleotide variant	NM_020451.3(SELENON):c.820G>C (p.Ala274Pro)	Eichsfeld type congenital muscular dystrophy [RCV002789938]	uncertain significance	1	25809098	25809098	Human	1	alternate_id
156203923	CV2401389	single nucleotide variant	NM_020451.3(SELENON):c.877C>T (p.His293Tyr)	Eichsfeld type congenital muscular dystrophy [RCV002789949]	uncertain significance	1	25809687	25809687	Human	1	alternate_id
156204041	CV2401394	duplication	NM_020451.3(SELENON):c.69_76dup (p.Arg26fs)	Eichsfeld type congenital muscular dystrophy [RCV002789954]	pathogenic	1	25800291	25800292	Human	1	alternate_id
156320494	CV2401403	deletion	NM_020451.3(SELENON):c.1176del (p.Glu394fs)	Eichsfeld type congenital muscular dystrophy [RCV002810021]	pathogenic	1	25811774	25811774	Human	1	alternate_id
156204340	CV2401412	single nucleotide variant	NM_020451.3(SELENON):c.1388-1G>C	Eichsfeld type congenital muscular dystrophy [RCV002789970]	uncertain significance	1	25813880	25813880	Human	1	alternate_id
243060450	CV2411051	single nucleotide variant	NM_020451.3(SELENON):c.200C>A (p.Thr67Asn)	Eichsfeld type congenital muscular dystrophy [RCV003485853]	uncertain significance	1	25801059	25801059	Human	1	alternate_id
243060451	CV2411052	single nucleotide variant	NM_020451.3(SELENON):c.1109C>T (p.Thr370Met)	Eichsfeld type congenital muscular dystrophy [RCV003485854]	uncertain significance	1	25811707	25811707	Human	1	alternate_id
243060452	CV2411053	single nucleotide variant	NM_020451.3(SELENON):c.816G>C (p.Gln272His)	Eichsfeld type congenital muscular dystrophy [RCV003485855]	uncertain significance	1	25809094	25809094	Human	1	alternate_id
243060453	CV2411054	single nucleotide variant	NM_020451.3(SELENON):c.1567G>A (p.Val523Met)	Eichsfeld type congenital muscular dystrophy [RCV003485856]	uncertain significance	1	25814143	25814143	Human	1	alternate_id
243060454	CV2411055	single nucleotide variant	NM_020451.3(SELENON):c.635C>T (p.Pro212Leu)	Eichsfeld type congenital muscular dystrophy [RCV003485857]\|Inborn genetic diseases [RCV004961218]	uncertain significance	1	25808677	25808677	Human	2	alternate_id
243060457	CV2411058	single nucleotide variant	NM_020451.3(SELENON):c.650T>C (p.Leu217Pro)	Eichsfeld type congenital muscular dystrophy [RCV003485858]\|Inborn genetic diseases [RCV004961219]	uncertain significance	1	25808692	25808692	Human	2	alternate_id
243060458	CV2411059	single nucleotide variant	NM_020451.3(SELENON):c.273G>C (p.Glu91Asp)	Eichsfeld type congenital muscular dystrophy [RCV003485859]	uncertain significance	1	25801132	25801132	Human	1	alternate_id
243052949	CV2418055	single nucleotide variant	NM_020451.3(SELENON):c.1222G>T (p.Glu408Ter)	Eichsfeld type congenital muscular dystrophy [RCV003153120]	pathogenic\|likely pathogenic	1	25811820	25811820	Human	1	alternate_id
243056729	CV2418913	microsatellite	NM_020451.3(SELENON):c.600_601del (p.Phe201fs)	Eichsfeld type congenital muscular dystrophy [RCV003155881]	likely pathogenic	1	25808640	25808641	Human		alternate_id
11346816	CV242589	single nucleotide variant	NM_018127.7(ELAC2):c.1458T>C (p.Leu486=)	Combined oxidative phosphorylation defect type 17 [RCV001493371]\|not provided [RCV005411256]	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity	17	12998474	12998474	Human	9	alternate_id
329355591	CV2477501	deletion	NM_020451.3(SELENON):c.1168del (p.Leu390fs)	Eichsfeld type congenital muscular dystrophy [RCV003223448]	pathogenic	1	25811765	25811765	Human	1	alternate_id
11549057	CV249859	single nucleotide variant	NM_020451.2(SELENON):c.-42T>C	SEPN1-related disorder [RCV000377725]\|not provided [RCV001683095]\|not specified [RCV000249922]	benign\|uncertain significance	1	25800189	25800189	Human	1	trait , alternate_id
11545457	CV249860	single nucleotide variant	NM_020451.3(SELENON):c.-35T>C	SEPN1-related disorder [RCV001101034]\|not specified [RCV000245166]	likely benign\|uncertain significance	1	25800196	25800196	Human	1	trait , alternate_id
11543196	CV249861	single nucleotide variant	NM_020451.3(SELENON):c.81C>T (p.Arg27=)	Eichsfeld type congenital muscular dystrophy [RCV000873512]\|not provided [RCV001753727]\|not specified [RCV000242137]	likely benign\|uncertain significance	1	25800311	25800311	Human	1	alternate_id
11552002	CV249864	single nucleotide variant	NM_020451.3(SELENON):c.465G>A (p.Thr155=)	Eichsfeld type congenital muscular dystrophy [RCV000547825]\|not provided [RCV000584991]\|not specified [RCV000253793]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	25805203	25805203	Human	1	alternate_id
11549735	CV249865	single nucleotide variant	NM_020451.3(SELENON):c.729G>A (p.Pro243=)	Eichsfeld type congenital muscular dystrophy [RCV001081584]\|SELENON-related disorder [RCV003891962]\|SEPN1-related disorder [RCV000292421]\|not provided [RCV000725590]\|not specified [RCV000250797]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	25808771	25808771	Human	2	trait , alternate_id
11543188	CV249866	single nucleotide variant	NM_020451.3(SELENON):c.732G>A (p.Pro244=)	Eichsfeld type congenital muscular dystrophy [RCV000951535]\|SEPN1-related disorder [RCV001099052]\|not specified [RCV000242126]	likely benign\|uncertain significance	1	25808774	25808774	Human	1	trait , alternate_id
11550010	CV249869	single nucleotide variant	NM_020451.3(SELENON):c.1093-46C>A	Eichsfeld type congenital muscular dystrophy [RCV001807191]\|not provided [RCV000828934]\|not specified [RCV000251176]	benign	1	25811645	25811645	Human	1	alternate_id
11547123	CV249871	single nucleotide variant	NM_020451.3(SELENON):c.1281+15G>T	Eichsfeld type congenital muscular dystrophy [RCV002058291]\|not specified [RCV000247353]	likely benign	1	25811894	25811894	Human	1	alternate_id
11543614	CV249873	single nucleotide variant	NM_020451.3(SELENON):c.1282-41C>T	Eichsfeld type congenital muscular dystrophy [RCV001807192]\|not provided [RCV000828936]\|not specified [RCV000242697]	benign	1	25812646	25812646	Human	1	alternate_id
11547216	CV249874	single nucleotide variant	NM_020451.3(SELENON):c.1387+11C>T	Eichsfeld type congenital muscular dystrophy [RCV002058292]\|SEPN1-related disorder [RCV000266014]\|not provided [RCV004713457]\|not specified [RCV000247472]	benign\|likely benign	1	25812803	25812803	Human	1	trait , alternate_id
11546937	CV249876	single nucleotide variant	NM_020451.3(SELENON):c.1602+14C>T	Eichsfeld type congenital muscular dystrophy [RCV002058293]\|SEPN1-related disorder [RCV000260150]\|not specified [RCV000247113]	benign\|likely benign\|uncertain significance	1	25814192	25814192	Human	1	trait , alternate_id
11550210	CV249877	single nucleotide variant	NM_020451.3(SELENON):c.1645G>A (p.Val549Met)	Eichsfeld type congenital muscular dystrophy [RCV000525330]\|Eichsfeld type congenital muscular dystrophy [RCV002500917]\|SEPN1-related disorder [RCV000388614]\|not provided [RCV001722338]\|not specified [RCV000251443]	benign\|likely benign\|uncertain significance	1	25815590	25815590	Human	1	trait , alternate_id
11544032	CV249878	single nucleotide variant	NM_020451.3(SELENON):c.1710G>A (p.Thr570=)	Eichsfeld type congenital muscular dystrophy [RCV000893098]\|SEPN1-related disorder [RCV001097380]\|not provided [RCV001557483]\|not specified [RCV000243251]	likely benign\|uncertain significance	1	25815655	25815655	Human	1	trait , alternate_id
11547923	CV249879	single nucleotide variant	NM_020451.3(SELENON):c.1745G>A (p.Arg582Gln)	Eichsfeld type congenital muscular dystrophy [RCV000555157]\|SEPN1-related disorder [RCV001097381]\|not provided [RCV004714601]\|not specified [RCV000248395]	benign	1	25815690	25815690	Human	1	trait , alternate_id
11551365	CV249880	single nucleotide variant	NM_020451.3(SELENON):c.*44G>T	SEPN1-related disorder [RCV001099131]\|not provided [RCV001545898]\|not specified [RCV000252956]	likely benign	1	25815762	25815762	Human	1	trait , alternate_id
11632928	CV263988	deletion	NM_020451.3(SELENON):c.997_1000del (p.Val333fs)	Congenital myopathy with fiber type disproportion [RCV001813775]\|Eichsfeld type congenital muscular dystrophy [RCV001045576]\|not provided [RCV000299743]	pathogenic	1	25809806	25809809	Human	2	alternate_id
11632601	CV264015	deletion	NM_020451.3(SELENON):c.9_33del (p.Ala4fs)	Eichsfeld type congenital muscular dystrophy [RCV001381199]\|not provided [RCV000269233]	pathogenic\|likely pathogenic	1	25800233	25800257	Human	1	alternate_id
11581156	CV264017	single nucleotide variant	NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)	Eichsfeld type congenital muscular dystrophy [RCV000791286]\|Eichsfeld type congenital muscular dystrophy [RCV000800896]\|See cases [RCV003985311]\|not provided [RCV000358099]	pathogenic\|likely pathogenic	1	25809150	25809150	Human	1	alternate_id
11640510	CV265285	single nucleotide variant	NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn)	Eichsfeld type congenital muscular dystrophy [RCV000765103]\|Eichsfeld type congenital muscular dystrophy [RCV001083468]\|SELENON-related disorder [RCV003920033]\|not provided [RCV000723478]\|not specified [RCV000340120]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	25815660	25815660	Human	3	alternate_id
329951974	CV2668720	duplication	NM_020451.3(SELENON):c.1499dup (p.Asn501fs)	Eichsfeld type congenital muscular dystrophy [RCV003230801]	likely pathogenic	1	25813991	25813992	Human	1	alternate_id
11640200	CV269858	single nucleotide variant	NM_020451.3(SELENON):c.610C>T (p.Arg204Cys)	Eichsfeld type congenital muscular dystrophy [RCV001228309]\|Inborn genetic diseases [RCV004021181]\|not provided [RCV000333304]	uncertain significance	1	25808652	25808652	Human	2	alternate_id
11637827	CV270336	single nucleotide variant	NM_020451.3(SELENON):c.1535C>T (p.Ala512Val)	Eichsfeld type congenital muscular dystrophy [RCV000528532]\|Inborn genetic diseases [RCV004021192]\|not provided [RCV000585536]	uncertain significance	1	25814111	25814111	Human	2	alternate_id
11635985	CV275193	single nucleotide variant	NM_020451.3(SELENON):c.7C>A (p.Arg3=)	Eichsfeld type congenital muscular dystrophy [RCV001086966]\|not provided [RCV000259857]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	25800237	25800237	Human	1	alternate_id
11582710	CV280264	single nucleotide variant	NM_020451.3(SELENON):c.-14C>A	SELENON-related disorder [RCV003920205]\|SEPN1-related disorder [RCV000261572]\|not provided [RCV000595384]	benign\|uncertain significance	1	25800217	25800217	Human	2	trait , alternate_id
11580988	CV280268	single nucleotide variant	NM_020451.3(SELENON):c.550G>C (p.Ala184Pro)	Eichsfeld type congenital muscular dystrophy [RCV000544404]\|SELENON-related disorder [RCV003949991]\|SEPN1-related disorder [RCV000351042]\|not provided [RCV000494289]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	25808592	25808592	Human	2	trait , alternate_id
11582301	CV280270	single nucleotide variant	NM_020451.3(SELENON):c.1110G>A (p.Thr370=)	Eichsfeld type congenital muscular dystrophy [RCV000873164]\|SEPN1-related disorder [RCV000406505]	benign\|uncertain significance	1	25811708	25811708	Human	1	trait , alternate_id
11659383	CV280274	single nucleotide variant	NM_020451.3(SELENON):c.1575G>A (p.Met525Ile)	SEPN1-related disorder [RCV000357191]	uncertain significance	1	25814151	25814151	Human	1	trait , alternate_id
11578279	CV280276	single nucleotide variant	NM_020451.3(SELENON):c.1704G>A (p.Pro568=)	Eichsfeld type congenital muscular dystrophy [RCV001469690]\|SEPN1-related disorder [RCV000277904]\|not specified [RCV000615602]	likely benign\|uncertain significance	1	25815649	25815649	Human	1	trait , alternate_id
11586745	CV280277	single nucleotide variant	NM_020451.3(SELENON):c.*228C>T	SEPN1-related disorder [RCV000289813]\|not provided [RCV001552124]	benign\|likely benign	1	25815946	25815946	Human	1	trait , alternate_id
11596404	CV280278	single nucleotide variant	NM_020451.3(SELENON):c.*267C>G	SEPN1-related disorder [RCV000381821]\|not provided [RCV001553439]	likely benign\|uncertain significance	1	25815985	25815985	Human	1	trait , alternate_id
11592786	CV280290	single nucleotide variant	NM_020451.3(SELENON):c.*646A>G	SEPN1-related disorder [RCV000342267]	likely benign	1	25816364	25816364	Human	1	trait , alternate_id
11593941	CV280295	single nucleotide variant	NM_020451.3(SELENON):c.*855C>T	SEPN1-related disorder [RCV000353638]	likely benign	1	25816573	25816573	Human	1	trait , alternate_id
11597441	CV280299	single nucleotide variant	NM_020451.3(SELENON):c.*1000G>A	SEPN1-related disorder [RCV000394280]	uncertain significance	1	25816718	25816718	Human	1	trait , alternate_id
11589833	CV280301	single nucleotide variant	NM_020451.3(SELENON):c.*1306G>A	SEPN1-related disorder [RCV000313880]	likely benign	1	25817024	25817024	Human	1	trait , alternate_id
11596129	CV280308	single nucleotide variant	NM_020451.3(SELENON):c.*1722T>C	SEPN1-related disorder [RCV000378653]\|not provided [RCV004714768]	benign	1	25817440	25817440	Human	1	trait , alternate_id
11649346	CV280311	single nucleotide variant	NM_020451.3(SELENON):c.*1731A>C	SEPN1-related disorder [RCV000286645]	uncertain significance	1	25817449	25817449	Human	1	trait , alternate_id
11585408	CV280312	single nucleotide variant	NM_020451.3(SELENON):c.*1985A>T	SEPN1-related disorder [RCV000280454]	uncertain significance	1	25817703	25817703	Human	1	trait , alternate_id
11597314	CV280313	single nucleotide variant	NM_020451.3(SELENON):c.*2207G>A	SEPN1-related disorder [RCV000392865]	uncertain significance	1	25817925	25817925	Human	1	trait , alternate_id
11589562	CV280318	deletion	NM_020451.3(SELENON):c.2283_2285del	SEPN1-related disorder [RCV000311420]	likely benign	1	25817999	25818001	Human	1	trait , alternate_id
11595248	CV280319	single nucleotide variant	NM_020451.3(SELENON):c.*2312T>C	SEPN1-related disorder [RCV000368251]	likely benign	1	25818030	25818030	Human	1	trait , alternate_id
11579956	CV280663	single nucleotide variant	NM_020451.3(SELENON):c.1623C>T (p.Asn541=)	Eichsfeld type congenital muscular dystrophy [RCV000636858]\|SEPN1-related disorder [RCV000317644]\|not specified [RCV000422681]	likely benign\|uncertain significance	1	25815568	25815568	Human	1	trait , alternate_id
11656080	CV280669	single nucleotide variant	NM_020451.3(SELENON):c.*83G>A	SEPN1-related disorder [RCV000330616]	uncertain significance	1	25815801	25815801	Human	1	trait , alternate_id
11648755	CV280678	single nucleotide variant	NM_020451.3(SELENON):c.*710C>T	SEPN1-related disorder [RCV000283650]	uncertain significance	1	25816428	25816428	Human	1	trait , alternate_id
11591175	CV280683	single nucleotide variant	NM_020451.3(SELENON):c.*1672T>G	SEPN1-related disorder [RCV000326380]	uncertain significance	1	25817390	25817390	Human	1	trait , alternate_id
11592331	CV280685	single nucleotide variant	NM_020451.3(SELENON):c.*2047G>A	SEPN1-related disorder [RCV000337823]	uncertain significance	1	25817765	25817765	Human	1	trait , alternate_id
11648056	CV280691	deletion	NM_020451.3(SELENON):c.*2228del	SEPN1-related disorder [RCV000279732]	uncertain significance	1	25817946	25817946	Human	1	trait , alternate_id
11597147	CV280692	deletion	NM_020451.3(SELENON):c.2234_2236del	SEPN1-related disorder [RCV000390586]	likely benign	1	25817947	25817949	Human	1	trait , alternate_id
11593660	CV280694	deletion	NM_020451.3(SELENON):c.*2236del	SEPN1-related disorder [RCV000351112]\|not provided [RCV004691211]	uncertain significance	1	25817947	25817947	Human	1	trait , alternate_id
11597766	CV280696	single nucleotide variant	NM_020451.3(SELENON):c.*2336A>T	SEPN1-related disorder [RCV000397931]\|not provided [RCV004710784]	likely benign	1	25818054	25818054	Human	1	trait , alternate_id
11580954	CV281957	single nucleotide variant	NM_020451.3(SELENON):c.878A>G (p.His293Arg)	Eichsfeld type congenital muscular dystrophy [RCV002520484]\|SEPN1-related disorder [RCV000349806]	likely pathogenic\|conflicting interpretations of pathogenicity	1	25809688	25809688	Human	1	trait , alternate_id
11662606	CV281958	deletion	NM_020451.3(SELENON):c.219_222del	SEPN1-related disorder [RCV000387493]	uncertain significance	1	25815934	25815937	Human	1	trait , alternate_id
11657408	CV281959	single nucleotide variant	NM_020451.3(SELENON):c.*754G>A	SEPN1-related disorder [RCV000340962]	uncertain significance	1	25816472	25816472	Human	1	trait , alternate_id
11588246	CV281964	single nucleotide variant	NM_020451.3(SELENON):c.*780C>T	SEPN1-related disorder [RCV000301368]	likely benign	1	25816498	25816498	Human	1	trait , alternate_id
11646867	CV281965	single nucleotide variant	NM_020451.3(SELENON):c.*1622G>A	SEPN1-related disorder [RCV000273010]	uncertain significance	1	25817340	25817340	Human	1	trait , alternate_id
11590607	CV281987	single nucleotide variant	NM_020451.3(SELENON):c.*1782C>T	SEPN1-related disorder [RCV000320663]	uncertain significance	1	25817500	25817500	Human	1	trait , alternate_id
11596052	CV281989	single nucleotide variant	NM_020451.3(SELENON):c.*1807T>C	SEPN1-related disorder [RCV000377647]	uncertain significance	1	25817525	25817525	Human	1	trait , alternate_id
11578355	CV282040	single nucleotide variant	NM_020451.3(SELENON):c.427G>A (p.Glu143Lys)	Eichsfeld type congenital muscular dystrophy [RCV000555589]\|SEPN1-related disorder [RCV000279657]\|not provided [RCV000488936]	uncertain significance	1	25805165	25805165	Human	1	trait , alternate_id
11579566	CV282046	single nucleotide variant	NM_020451.3(SELENON):c.1082A>G (p.Tyr361Cys)	Eichsfeld type congenital muscular dystrophy [RCV003485574]\|SEPN1-related disorder [RCV000306973]	uncertain significance	1	25811525	25811525	Human	1	trait , alternate_id
11652606	CV282048	microsatellite	NM_020451.3(SELENON):c.1148GCA[1] (p.Ser384del)	Eichsfeld type congenital muscular dystrophy [RCV000981757]\|SEPN1-related disorder [RCV000305666]\|not provided [RCV001509030]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	25811746	25811748	Human		trait , alternate_id
11580269	CV282050	single nucleotide variant	NM_020451.3(SELENON):c.*267C>A	SEPN1-related disorder [RCV000328429]	likely benign\|uncertain significance	1	25815985	25815985	Human	1	trait , alternate_id
11649887	CV282065	deletion	NM_020451.3(SELENON):c.*482del	SEPN1-related disorder [RCV000289732]	uncertain significance	1	25816199	25816199	Human	1	trait , alternate_id
11664228	CV282068	single nucleotide variant	NM_020451.3(SELENON):c.*686A>G	SEPN1-related disorder [RCV000403941]	uncertain significance	1	25816404	25816404	Human	1	trait , alternate_id
11598429	CV282069	single nucleotide variant	NM_020451.3(SELENON):c.*771G>A	SEPN1-related disorder [RCV000405293]	likely benign	1	25816489	25816489	Human	1	trait , alternate_id
11660863	CV282072	single nucleotide variant	NM_020451.3(SELENON):c.*1333G>C	SEPN1-related disorder [RCV000370846]	uncertain significance	1	25817051	25817051	Human	1	trait , alternate_id
11591719	CV282073	single nucleotide variant	NM_020451.3(SELENON):c.*1500G>A	SEPN1-related disorder [RCV000331616]	benign\|likely benign	1	25817218	25817218	Human	1	trait , alternate_id
11647111	CV282080	microsatellite	NM_020451.3(SELENON):c.*1496TTTTG[3]	SEPN1-related disorder [RCV000274156]	uncertain significance	1	25817214	25817218	Human		trait , alternate_id
11594979	CV282081	single nucleotide variant	NM_020451.3(SELENON):c.*1612T>C	SEPN1-related disorder [RCV000365105]\|not provided [RCV004713664]	benign	1	25817330	25817330	Human	1	trait , alternate_id
11589366	CV282088	single nucleotide variant	NM_020451.3(SELENON):c.*2465G>A	SEPN1-related disorder [RCV000310137]\|not provided [RCV004714769]	benign	1	25818183	25818183	Human	1	trait , alternate_id
11659945	CV282102	single nucleotide variant	NM_020451.3(SELENON):c.*2475T>C	SEPN1-related disorder [RCV000362530]	uncertain significance	1	25818193	25818193	Human	1	trait , alternate_id
402468924	CV2876093	single nucleotide variant	NM_020451.3(SELENON):c.627C>T (p.Phe209=)	Eichsfeld type congenital muscular dystrophy [RCV003503854]	likely benign	1	25808669	25808669	Human	1	alternate_id
402468352	CV2879139	single nucleotide variant	NM_020451.3(SELENON):c.748-8G>A	Eichsfeld type congenital muscular dystrophy [RCV003503800]	likely benign	1	25809018	25809018	Human	1	alternate_id
402470409	CV2883211	single nucleotide variant	NM_020451.3(SELENON):c.302-1G>C	Eichsfeld type congenital muscular dystrophy [RCV003504386]	likely pathogenic	1	25802015	25802015	Human	1	alternate_id
402470673	CV2890447	single nucleotide variant	NM_020451.3(SELENON):c.39C>T (p.Ser13=)	Eichsfeld type congenital muscular dystrophy [RCV003504432]	likely benign	1	25800269	25800269	Human	1	alternate_id
402469640	CV2891687	single nucleotide variant	NM_020451.3(SELENON):c.1227G>A (p.Leu409=)	Eichsfeld type congenital muscular dystrophy [RCV003504150]	likely benign	1	25811825	25811825	Human	1	alternate_id
402469936	CV2892530	single nucleotide variant	NM_020451.3(SELENON):c.1093-18C>T	Eichsfeld type congenital muscular dystrophy [RCV003504257]	likely benign	1	25811673	25811673	Human	1	alternate_id
402470310	CV2893190	single nucleotide variant	NM_020451.3(SELENON):c.747+16G>C	Eichsfeld type congenital muscular dystrophy [RCV003504358]	likely benign	1	25808805	25808805	Human	1	alternate_id
405130565	CV2905742	single nucleotide variant	NM_020451.3(SELENON):c.36C>T (p.Pro12=)	Eichsfeld type congenital muscular dystrophy [RCV003502092]	likely benign	1	25800266	25800266	Human	1	alternate_id
405134273	CV2915742	single nucleotide variant	NM_020451.3(SELENON):c.726A>G (p.Pro242=)	Eichsfeld type congenital muscular dystrophy [RCV003502476]	likely benign	1	25808768	25808768	Human	1	alternate_id
402466685	CV2928460	single nucleotide variant	NM_020451.3(SELENON):c.59C>T (p.Pro20Leu)	Eichsfeld type congenital muscular dystrophy [RCV003503341]\|Inborn genetic diseases [RCV004371432]\|not provided [RCV005250315]	likely benign\|uncertain significance	1	25800289	25800289	Human	2	alternate_id
402466331	CV2931005	single nucleotide variant	NM_020451.3(SELENON):c.390C>T (p.Cys130=)	Eichsfeld type congenital muscular dystrophy [RCV003503271]	likely benign	1	25802104	25802104	Human	1	alternate_id
402467086	CV2932936	single nucleotide variant	NM_020451.3(SELENON):c.1281+11G>A	Eichsfeld type congenital muscular dystrophy [RCV003503453]	likely benign	1	25811890	25811890	Human	1	alternate_id
405064172	CV2942783	single nucleotide variant	NM_020451.3(SELENON):c.51C>G (p.Ala17=)	Eichsfeld type congenital muscular dystrophy [RCV003611663]	likely benign	1	25800281	25800281	Human	1	alternate_id
405064364	CV2946248	single nucleotide variant	NM_020451.3(SELENON):c.126T>A (p.Ala42=)	Eichsfeld type congenital muscular dystrophy [RCV003611677]	likely benign	1	25800356	25800356	Human	1	alternate_id
405064668	CV2946778	deletion	NM_020451.3(SELENON):c.1549_1551del (p.Glu517del)	Eichsfeld type congenital muscular dystrophy [RCV003611700]	uncertain significance	1	25814124	25814126	Human	1	alternate_id
405067824	CV2961941	single nucleotide variant	NM_020451.3(SELENON):c.1179G>A (p.Gly393=)	Eichsfeld type congenital muscular dystrophy [RCV003611941]	likely benign	1	25811777	25811777	Human	1	alternate_id
405077101	CV2967780	single nucleotide variant	NM_020451.3(SELENON):c.1605C>G (p.Val535=)	Eichsfeld type congenital muscular dystrophy [RCV003612578]	likely benign	1	25815550	25815550	Human	1	alternate_id
405077007	CV2971319	single nucleotide variant	NM_020451.3(SELENON):c.1338G>A (p.Leu446=)	Eichsfeld type congenital muscular dystrophy [RCV003612571]	likely benign	1	25812743	25812743	Human	1	alternate_id
405079481	CV2981431	single nucleotide variant	NM_020451.3(SELENON):c.276C>T (p.Phe92=)	Eichsfeld type congenital muscular dystrophy [RCV003612786]	likely benign	1	25801135	25801135	Human	1	alternate_id
405084850	CV3004532	single nucleotide variant	NM_020451.3(SELENON):c.184-16C>G	Eichsfeld type congenital muscular dystrophy [RCV003613240]	likely benign	1	25801027	25801027	Human	1	alternate_id
405085559	CV3005488	single nucleotide variant	NM_020451.3(SELENON):c.1296G>A (p.Pro432=)	Eichsfeld type congenital muscular dystrophy [RCV003613296]	likely benign	1	25812701	25812701	Human	1	alternate_id
405086552	CV3006900	deletion	NM_020451.3(SELENON):c.302-2_302-1del	Eichsfeld type congenital muscular dystrophy [RCV003613378]	likely pathogenic	1	25802014	25802015	Human	1	alternate_id
405085043	CV3008280	single nucleotide variant	NM_020451.3(SELENON):c.1197G>A (p.Val399=)	Eichsfeld type congenital muscular dystrophy [RCV003613255]	likely benign	1	25811795	25811795	Human	1	alternate_id
405087306	CV3017616	single nucleotide variant	NM_020451.3(SELENON):c.744G>A (p.Lys248=)	Eichsfeld type congenital muscular dystrophy [RCV003613441]	likely benign	1	25808786	25808786	Human	1	alternate_id
405088073	CV3021870	single nucleotide variant	NM_020451.3(SELENON):c.404-7C>A	Eichsfeld type congenital muscular dystrophy [RCV003613501]	likely benign	1	25805135	25805135	Human	1	alternate_id
405057356	CV3026135	duplication	NM_020451.3(SELENON):c.890_981dup (p.Asp328fs)	Eichsfeld type congenital muscular dystrophy [RCV003611020]	pathogenic	1	25809698	25809699	Human	1	alternate_id
405057545	CV3029529	deletion	NM_020451.3(SELENON):c.-10_135del (p.Met1fs)	Eichsfeld type congenital muscular dystrophy [RCV003611035]	pathogenic	1	25800212	25800356	Human	1	alternate_id
405059270	CV3032461	deletion	NM_020451.3(SELENON):c.1500+20del	Eichsfeld type congenital muscular dystrophy [RCV003611206]	likely benign	1	25814012	25814012	Human	1	alternate_id
405059311	CV3032655	single nucleotide variant	NM_020451.3(SELENON):c.1093-11C>T	Eichsfeld type congenital muscular dystrophy [RCV003611210]	likely benign	1	25811680	25811680	Human	1	alternate_id
405060464	CV3036840	single nucleotide variant	NM_020451.3(SELENON):c.1341G>A (p.Val447=)	Eichsfeld type congenital muscular dystrophy [RCV003611279]	likely benign	1	25812746	25812746	Human	1	alternate_id
405059021	CV3040679	single nucleotide variant	NM_020451.3(SELENON):c.1351C>T (p.Leu451=)	Eichsfeld type congenital muscular dystrophy [RCV003611188]	likely benign	1	25812756	25812756	Human	1	alternate_id
405062311	CV3051758	single nucleotide variant	NM_020451.3(SELENON):c.1387+14C>G	Eichsfeld type congenital muscular dystrophy [RCV003611440]	likely benign	1	25812806	25812806	Human	1	alternate_id
405069442	CV3057524	single nucleotide variant	NM_020451.3(SELENON):c.102C>T (p.Leu34=)	Eichsfeld type congenital muscular dystrophy [RCV003612074]	likely benign	1	25800332	25800332	Human	1	alternate_id
405070126	CV3061334	single nucleotide variant	NM_020451.3(SELENON):c.1603-15C>G	Eichsfeld type congenital muscular dystrophy [RCV003612121]	likely benign	1	25815533	25815533	Human	1	alternate_id
405069497	CV3067864	single nucleotide variant	NM_020451.3(SELENON):c.109C>T (p.Leu37=)	Eichsfeld type congenital muscular dystrophy [RCV003612078]	likely benign	1	25800339	25800339	Human	1	alternate_id
405072730	CV3070347	single nucleotide variant	NM_020451.3(SELENON):c.633C>T (p.Pro211=)	Eichsfeld type congenital muscular dystrophy [RCV003612277]	likely benign	1	25808675	25808675	Human	1	alternate_id
405081960	CV3072563	single nucleotide variant	NM_020451.3(SELENON):c.1122G>A (p.Val374=)	Eichsfeld type congenital muscular dystrophy [RCV003613003]	likely benign	1	25811720	25811720	Human	1	alternate_id
405073889	CV3076331	single nucleotide variant	NM_020451.3(SELENON):c.16C>T (p.Pro6Ser)	Eichsfeld type congenital muscular dystrophy [RCV003612358]	likely benign	1	25800246	25800246	Human	1	alternate_id
405074322	CV3079751	single nucleotide variant	NM_020451.3(SELENON):c.404-19C>T	Eichsfeld type congenital muscular dystrophy [RCV003612388]	likely benign	1	25805123	25805123	Human	1	alternate_id
404992737	CV3132406	single nucleotide variant	NM_020451.3(SELENON):c.1602+16C>T	Eichsfeld type congenital muscular dystrophy [RCV003827345]	likely benign	1	25814194	25814194	Human	1	alternate_id
405076423	CV3140816	single nucleotide variant	NM_020451.3(SELENON):c.1603-15C>T	Eichsfeld type congenital muscular dystrophy [RCV003833779]	likely benign	1	25815533	25815533	Human	1	alternate_id
405254352	CV3175038	single nucleotide variant	NM_020451.3(SELENON):c.1656G>A (p.Glu552=)	Eichsfeld type congenital muscular dystrophy [RCV003871490]	likely benign	1	25815601	25815601	Human	1	alternate_id
405005344	CV3184664	single nucleotide variant	NM_020451.3(SELENON):c.1282-13G>A	Eichsfeld type congenital muscular dystrophy [RCV003883428]	pathogenic\|uncertain significance	1	25812674	25812674	Human	1	alternate_id
405873478	CV3404203	deletion	NC_000001.10:g.(?_26126650)_(26126749_?)del	Eichsfeld type congenital muscular dystrophy [RCV004583976]	pathogenic				Human	1	alternate_id
407454502	CV3495347	duplication	NM_020451.3(SELENON):c.243dup (p.Asp82Ter)	Eichsfeld type congenital muscular dystrophy [RCV004691657]	likely pathogenic	1	25801101	25801102	Human	1	alternate_id
408385244	CV3526033	insertion	NM_020451.3(SELENON):c.4_5insCCCG (p.Gly2fs)	Eichsfeld type congenital muscular dystrophy [RCV004766944]	pathogenic	1	25800233	25800234	Human	1	alternate_id
596927865	CV3540075	deletion	NM_020451.3(SELENON):c.1069del (p.Val357fs)	Eichsfeld type congenital muscular dystrophy [RCV004791067]	pathogenic	1	25811511	25811511	Human	1	alternate_id
12742292	CV359257	deletion	NM_020451.3(SELENON):c.-11_81del (p.Met1fs)	Congenital myopathy with fiber type disproportion [RCV000501710]\|Eichsfeld type congenital muscular dystrophy [RCV001060927]\|not provided [RCV000413324]	pathogenic\|likely pathogenic	1	25800212	25800303	Human	2	alternate_id
12739021	CV360810	single nucleotide variant	NM_020451.3(SELENON):c.482G>A (p.Arg161Gln)	Eichsfeld type congenital muscular dystrophy [RCV000811824]\|Joint laxity [RCV000415215]\|See cases [RCV001198217]\|not provided [RCV005416350]	uncertain significance	1	25805220	25805220	Human	6	alternate_id
12848057	CV364980	single nucleotide variant	NM_020451.3(SELENON):c.301+18C>T	Eichsfeld type congenital muscular dystrophy [RCV002059780]\|not specified [RCV000444601]	likely benign	1	25801178	25801178	Human	1	alternate_id
12833118	CV364983	single nucleotide variant	NM_020451.3(SELENON):c.1092+16G>C	Eichsfeld type congenital muscular dystrophy [RCV002059877]\|not specified [RCV000417909]	benign\|likely benign	1	25811551	25811551	Human	1	alternate_id
12839881	CV365076	single nucleotide variant	NM_020451.3(SELENON):c.171G>A (p.Ala57=)	Eichsfeld type congenital muscular dystrophy [RCV005090823]\|not specified [RCV000429644]	likely benign	1	25800401	25800401	Human	1	alternate_id
12833812	CV365078	single nucleotide variant	NM_020451.3(SELENON):c.748-9C>T	Eichsfeld type congenital muscular dystrophy [RCV001485136]\|not specified [RCV000419223]	likely benign	1	25809017	25809017	Human	1	alternate_id
12834832	CV365090	single nucleotide variant	NM_020451.3(SELENON):c.1162A>G (p.Ser388Gly)	Eichsfeld type congenital muscular dystrophy [RCV000875172]\|SELENON-related disorder [RCV003942343]\|SEPN1-related disorder [RCV001100862]\|not provided [RCV001720040]	benign\|likely benign	1	25811760	25811760	Human	2	trait , alternate_id
12845023	CV365098	single nucleotide variant	NM_020451.3(SELENON):c.1638C>T (p.Ile546=)	Eichsfeld type congenital muscular dystrophy [RCV001084680]\|not provided [RCV000636860]\|not specified [RCV000439056]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	25815583	25815583	Human	1	alternate_id
12839487	CV365100	single nucleotide variant	NM_020451.3(SELENON):c.1644C>T (p.Ser548=)	Eichsfeld type congenital muscular dystrophy [RCV002526344]\|not specified [RCV000428906]	likely benign	1	25815589	25815589	Human	1	alternate_id
12847836	CV365173	single nucleotide variant	NM_020451.3(SELENON):c.9G>C (p.Arg3=)	Eichsfeld type congenital muscular dystrophy [RCV002065090]\|not specified [RCV000444196]	likely benign	1	25800239	25800239	Human	1	alternate_id
12838432	CV365175	single nucleotide variant	NM_020451.3(SELENON):c.183+11G>A	Eichsfeld type congenital muscular dystrophy [RCV002058987]\|not specified [RCV000426955]	likely benign	1	25800424	25800424	Human	1	alternate_id
12835035	CV365176	single nucleotide variant	NM_020451.3(SELENON):c.693C>T (p.Phe231=)	Eichsfeld type congenital muscular dystrophy [RCV001493957]\|not specified [RCV000420990]	likely benign	1	25808735	25808735	Human	1	alternate_id
12845964	CV365180	single nucleotide variant	NM_020451.3(SELENON):c.1455C>T (p.Ser485=)	Eichsfeld type congenital muscular dystrophy [RCV000876875]\|SELENON-related disorder [RCV003959982]\|not specified [RCV000440753]	benign\|likely benign	1	25813948	25813948	Human	1	alternate_id
12835892	CV365196	single nucleotide variant	NM_020451.3(SELENON):c.1500+7G>A	Eichsfeld type congenital muscular dystrophy [RCV000876107]\|SEPN1-related disorder [RCV001101133]\|not provided [RCV001704392]	likely benign\|uncertain significance	1	25814000	25814000	Human	1	trait , alternate_id
597647052	CV3712577	deletion	NM_020451.3(SELENON):c.224_230del (p.Leu75fs)	Eichsfeld type congenital muscular dystrophy [RCV005026393]	likely pathogenic	1	25801078	25801084	Human	1	alternate_id
597647133	CV3712592	single nucleotide variant	NM_020451.3(SELENON):c.302-1G>A	Eichsfeld type congenital muscular dystrophy [RCV005026404]	likely pathogenic	1	25802015	25802015	Human	1	alternate_id
597930572	CV3745863	single nucleotide variant	NM_020451.3(SELENON):c.12C>G (p.Ala4=)	Eichsfeld type congenital muscular dystrophy [RCV005075848]	likely benign	1	25800242	25800242	Human	1	alternate_id
597855003	CV3747682	single nucleotide variant	NM_020451.3(SELENON):c.872+19C>T	Eichsfeld type congenital muscular dystrophy [RCV005066693]	likely benign	1	25809169	25809169	Human	1	alternate_id
597957470	CV3755084	single nucleotide variant	NM_020451.3(SELENON):c.456C>T (p.Ser152=)	Eichsfeld type congenital muscular dystrophy [RCV005080754]	likely benign	1	25805194	25805194	Human	1	alternate_id
597958006	CV3755164	single nucleotide variant	NM_020451.3(SELENON):c.1113C>T (p.Gly371=)	Eichsfeld type congenital muscular dystrophy [RCV005080834]	likely benign	1	25811711	25811711	Human	1	alternate_id
597948026	CV3759067	indel	NM_020451.3(SELENON):c.625_626delinsGC (p.Phe209Ala)	Eichsfeld type congenital muscular dystrophy [RCV005078863]	uncertain significance	1	25808667	25808668	Human		alternate_id
597938598	CV3760137	single nucleotide variant	NM_020451.3(SELENON):c.184-4G>A	Eichsfeld type congenital muscular dystrophy [RCV005077061]	likely benign	1	25801039	25801039	Human	1	alternate_id
597834381	CV3760745	single nucleotide variant	NM_020451.3(SELENON):c.301+19G>A	Eichsfeld type congenital muscular dystrophy [RCV005085296]	likely benign	1	25801179	25801179	Human	1	alternate_id
597853965	CV3762400	single nucleotide variant	NM_020451.3(SELENON):c.1384T>C	Eichsfeld type congenital muscular dystrophy [RCV005088316]	likely pathogenic	1	25812789	25812789	Human	1	alternate_id
597847908	CV3775987	single nucleotide variant	NM_020451.3(SELENON):c.753C>T (p.Ile251=)	Eichsfeld type congenital muscular dystrophy [RCV005123514]	likely benign	1	25809031	25809031	Human	1	alternate_id
597853782	CV3781970	single nucleotide variant	NM_020451.3(SELENON):c.1501-7C>T	Eichsfeld type congenital muscular dystrophy [RCV005128462]	likely benign	1	25814070	25814070	Human	1	alternate_id
597848658	CV3783657	single nucleotide variant	NM_020451.3(SELENON):c.538-11C>G	Eichsfeld type congenital muscular dystrophy [RCV005124153]	likely benign	1	25808569	25808569	Human	1	alternate_id
597864975	CV3795885	deletion	NM_020451.3(SELENON):c.301+20del	Eichsfeld type congenital muscular dystrophy [RCV005139375]	likely benign	1	25801179	25801179	Human	1	alternate_id
597863008	CV3796323	single nucleotide variant	NM_020451.3(SELENON):c.748-20G>A	Eichsfeld type congenital muscular dystrophy [RCV005137140]	likely benign	1	25809006	25809006	Human	1	alternate_id
597868544	CV3801509	single nucleotide variant	NM_020451.3(SELENON):c.302-16T>C	Eichsfeld type congenital muscular dystrophy [RCV005143498]	likely benign	1	25802000	25802000	Human	1	alternate_id
597873226	CV3803519	single nucleotide variant	NM_020451.3(SELENON):c.1206G>C (p.Glu402Asp)	Eichsfeld type congenital muscular dystrophy [RCV005148117]	uncertain significance	1	25811804	25811804	Human	1	alternate_id
597882693	CV3807211	single nucleotide variant	NM_020451.3(SELENON):c.183+7G>C	Eichsfeld type congenital muscular dystrophy [RCV005157782]	likely benign	1	25800420	25800420	Human	1	alternate_id
597887465	CV3814342	single nucleotide variant	NM_020451.3(SELENON):c.1302T>G (p.Thr434=)	Eichsfeld type congenital muscular dystrophy [RCV005162673]	likely benign	1	25812707	25812707	Human	1	alternate_id
597888259	CV3815561	deletion	NM_020451.3(SELENON):c.1602+12del	Eichsfeld type congenital muscular dystrophy [RCV005163494]	likely benign	1	25814186	25814186	Human	1	alternate_id
597884549	CV3816341	single nucleotide variant	NM_020451.3(SELENON):c.1158C>T (p.Ile386=)	Eichsfeld type congenital muscular dystrophy [RCV005159402]	likely benign	1	25811756	25811756	Human	1	alternate_id
597903516	CV3826320	single nucleotide variant	NM_020451.3(SELENON):c.202C>T (p.Leu68=)	Eichsfeld type congenital muscular dystrophy [RCV005178016]	likely benign	1	25801061	25801061	Human	1	alternate_id
597901246	CV3838613	single nucleotide variant	NM_020451.3(SELENON):c.681G>A (p.Glu227=)	Eichsfeld type congenital muscular dystrophy [RCV005175909]	likely benign	1	25808723	25808723	Human	1	alternate_id
597906981	CV3846529	single nucleotide variant	NM_020451.3(SELENON):c.346A>T (p.Ser116Cys)	Eichsfeld type congenital muscular dystrophy [RCV005181956]	uncertain significance	1	25802060	25802060	Human	1	alternate_id
597915156	CV3847064	single nucleotide variant	NM_020451.3(SELENON):c.630T>C (p.Leu210=)	Eichsfeld type congenital muscular dystrophy [RCV005190236]	likely benign	1	25808672	25808672	Human	1	alternate_id
597856242	CV3863800	single nucleotide variant	NM_020451.3(SELENON):c.301+2T>C	Eichsfeld type congenital muscular dystrophy [RCV005207605]	pathogenic	1	25801162	25801162	Human	1	alternate_id
598203935	CV3896555	duplication	NM_020451.3(SELENON):c.1194dup (p.Val399fs)	Eichsfeld type congenital muscular dystrophy [RCV005356780]	likely pathogenic	1	25811789	25811790	Human	1	alternate_id
616933225	CV4012846	deletion	NM_020451.3(SELENON):c.1286_1288del (p.Ser429del)	Eichsfeld type congenital muscular dystrophy [RCV005410310]	uncertain significance	1	25812689	25812691	Human	1	alternate_id
12894063	CV405144	duplication	NM_020451.3(SELENON):c.683_689dup (p.Met230fs)	Eichsfeld type congenital muscular dystrophy [RCV001851178]\|not provided [RCV000481356]	pathogenic	1	25808724	25808725	Human	1	alternate_id
12906621	CV414787	single nucleotide variant	NM_020451.3(SELENON):c.4G>T (p.Gly2Cys)	Eichsfeld type congenital muscular dystrophy [RCV000700893]\|Eichsfeld type congenital muscular dystrophy [RCV002481555]\|Inborn genetic diseases [RCV003168996]\|not provided [RCV000489439]	uncertain significance	1	25800234	25800234	Human	2	alternate_id
12906994	CV414789	single nucleotide variant	NM_020451.3(SELENON):c.1636A>G (p.Ile546Val)	Eichsfeld type congenital muscular dystrophy [RCV000549206]\|Inborn genetic diseases [RCV004659067]\|not provided [RCV000489897]	uncertain significance	1	25815581	25815581	Human	2	alternate_id
13212046	CV425358	deletion	NM_020451.3(SELENON):c.1332_1334del (p.Asn444del)	Eichsfeld type congenital muscular dystrophy [RCV001386658]\|not provided [RCV000498263]	pathogenic\|likely pathogenic\|uncertain significance	1	25812735	25812737	Human	1	alternate_id
13211812	CV425359	single nucleotide variant	NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu)	Eichsfeld type congenital muscular dystrophy [RCV000811605]\|not provided [RCV000497945]\|not specified [RCV002265784]	likely pathogenic\|uncertain significance	1	25813920	25813920	Human	1	alternate_id
13487290	CV442803	single nucleotide variant	NM_020451.3(SELENON):c.1603-14G>A	Eichsfeld type congenital muscular dystrophy [RCV002060273]\|not provided [RCV000523179]	likely benign\|uncertain significance	1	25815534	25815534	Human	1	alternate_id
13469933	CV447750	single nucleotide variant	NM_020451.3(SELENON):c.665G>A (p.Trp222Ter)	Eichsfeld type congenital muscular dystrophy [RCV000545759]	pathogenic	1	25808707	25808707	Human	1	alternate_id
13493631	CV447754	single nucleotide variant	NM_020451.3(SELENON):c.979C>T (p.Arg327Cys)	Eichsfeld type congenital muscular dystrophy [RCV000535820]	uncertain significance	1	25809789	25809789	Human	1	alternate_id
13480501	CV447970	single nucleotide variant	NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln)	Eichsfeld type congenital muscular dystrophy [RCV000551007]	pathogenic\|likely pathogenic	1	25813899	25813899	Human	1	alternate_id
13502104	CV448054	single nucleotide variant	NM_020451.3(SELENON):c.2T>G (p.Met1Arg)	Eichsfeld type congenital muscular dystrophy [RCV000541651]	pathogenic\|likely pathogenic	1	25800232	25800232	Human	1	alternate_id
13492774	CV448058	single nucleotide variant	NM_020451.3(SELENON):c.10G>T (p.Ala4Ser)	Eichsfeld type congenital muscular dystrophy [RCV000557694]	uncertain significance	1	25800240	25800240	Human	1	alternate_id
13487346	CV448062	deletion	NM_020451.3(SELENON):c.402_403+2del	Eichsfeld type congenital muscular dystrophy [RCV000554237]\|Eichsfeld type congenital muscular dystrophy [RCV002506322]\|not provided [RCV001562761]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	25802115	25802118	Human	1	alternate_id
13490936	CV448068	single nucleotide variant	NM_020451.3(SELENON):c.1378T>C (p.Ser460Pro)	Eichsfeld type congenital muscular dystrophy [RCV000533869]	uncertain significance	1	25812783	25812783	Human	1	alternate_id
13492805	CV448072	single nucleotide variant	NM_020451.3(SELENON):c.1469G>A (p.Trp490Ter)	Eichsfeld type congenital muscular dystrophy [RCV000535222]\|not provided [RCV000591683]	pathogenic\|likely pathogenic	1	25813962	25813962	Human	1	alternate_id
13486581	CV448084	single nucleotide variant	NM_020451.3(SELENON):c.257A>G (p.Tyr86Cys)	Eichsfeld type congenital muscular dystrophy [RCV000531331]	uncertain significance	1	25801116	25801116	Human	1	alternate_id
13481938	CV448092	single nucleotide variant	NM_020451.3(SELENON):c.852C>T (p.Phe284=)	Eichsfeld type congenital muscular dystrophy [RCV001089121]\|SELENON-related disorder [RCV003960290]\|not provided [RCV000713179]	benign\|likely benign	1	25809130	25809130	Human	1	alternate_id
13469296	CV448094	single nucleotide variant	NM_020451.3(SELENON):c.1094T>C (p.Met365Thr)	Eichsfeld type congenital muscular dystrophy [RCV000545155]	uncertain significance	1	25811692	25811692	Human	1	alternate_id
13519034	CV485992	single nucleotide variant	NM_020451.3(SELENON):c.1191G>T (p.Gln397His)	Eichsfeld type congenital muscular dystrophy [RCV000816430]\|SEPN1-related disorder [RCV001101130]\|not provided [RCV000585312]	uncertain significance	1	25811789	25811789	Human	1	trait , alternate_id
13523216	CV492921	single nucleotide variant	NM_020451.3(SELENON):c.883G>A (p.Glu295Lys)	Eichsfeld type congenital muscular dystrophy [RCV001867977]\|not provided [RCV000592718]\|not specified [RCV004767431]	conflicting interpretations of pathogenicity\|uncertain significance	1	25809693	25809693	Human	1	alternate_id
13538561	CV498433	single nucleotide variant	NM_020451.3(SELENON):c.537+16C>T	Eichsfeld type congenital muscular dystrophy [RCV003502546]\|not specified [RCV000612013]	likely benign	1	25805291	25805291	Human	1	alternate_id
13611273	CV514427	duplication	NM_020451.3(SELENON):c.249_250dup (p.Asp84fs)	Eichsfeld type congenital muscular dystrophy [RCV000799500]\|not provided [RCV000627410]	pathogenic\|conflicting interpretations of pathogenicity	1	25801105	25801106	Human	1	alternate_id
13621092	CV515760	single nucleotide variant	NM_020451.3(SELENON):c.184-3C>T	Eichsfeld type congenital muscular dystrophy [RCV000636852]	uncertain significance	1	25801040	25801040	Human	1	alternate_id
13621048	CV515764	single nucleotide variant	NM_020451.3(SELENON):c.430G>A (p.Glu144Lys)	Eichsfeld type congenital muscular dystrophy [RCV000636856]\|Inborn genetic diseases [RCV004957925]\|SEPN1-related disorder [RCV001099050]	uncertain significance	1	25805168	25805168	Human	2	trait , alternate_id
13621044	CV515765	single nucleotide variant	NM_020451.3(SELENON):c.456C>G (p.Ser152Arg)	Eichsfeld type congenital muscular dystrophy [RCV000636854]	uncertain significance	1	25805194	25805194	Human	1	alternate_id
13621049	CV515769	single nucleotide variant	NM_020451.3(SELENON):c.921G>A (p.Trp307Ter)	Eichsfeld type congenital muscular dystrophy [RCV000636857]	pathogenic	1	25809731	25809731	Human	1	alternate_id
13621093	CV515770	single nucleotide variant	NM_020451.3(SELENON):c.1078G>A (p.Gly360Ser)	Eichsfeld type congenital muscular dystrophy [RCV000636851]\|Inborn genetic diseases [RCV004025484]	uncertain significance	1	25811521	25811521	Human	2	alternate_id
13621052	CV515814	single nucleotide variant	NM_020451.3(SELENON):c.1128C>T (p.Ser376=)	Eichsfeld type congenital muscular dystrophy [RCV000636859]	likely benign	1	25811726	25811726	Human	1	alternate_id
13621046	CV515857	single nucleotide variant	NM_020451.3(SELENON):c.501G>A (p.Pro167=)	Eichsfeld type congenital muscular dystrophy [RCV000636855]\|Inborn genetic diseases [RCV004659134]	likely benign\|uncertain significance	1	25805239	25805239	Human	2	alternate_id
13621042	CV515885	single nucleotide variant	NM_020451.3(SELENON):c.2T>C (p.Met1Thr)	Eichsfeld type congenital muscular dystrophy [RCV000636853]	pathogenic	1	25800232	25800232	Human	1	alternate_id
13821776	CV557015	single nucleotide variant	NM_020451.3(SELENON):c.166C>T (p.Gln56Ter)	Eichsfeld type congenital muscular dystrophy [RCV000696370]	pathogenic\|likely pathogenic	1	25800396	25800396	Human	1	alternate_id
13818099	CV557017	single nucleotide variant	NM_020451.3(SELENON):c.188T>G (p.Leu63Arg)	Eichsfeld type congenital muscular dystrophy [RCV000693482]	uncertain significance	1	25801047	25801047	Human	1	alternate_id
13801376	CV557019	single nucleotide variant	NM_020451.3(SELENON):c.1421A>G (p.Glu474Gly)	Eichsfeld type congenital muscular dystrophy [RCV000697790]	uncertain significance	1	25813914	25813914	Human	1	alternate_id
13807504	CV557021	single nucleotide variant	NM_020451.3(SELENON):c.1498C>G (p.Gln500Glu)	Eichsfeld type congenital muscular dystrophy [RCV000701160]	uncertain significance	1	25813991	25813991	Human	1	alternate_id
13818652	CV557242	single nucleotide variant	NM_020451.3(SELENON):c.760C>T (p.Arg254Trp)	Eichsfeld type congenital muscular dystrophy [RCV000693853]\|Inborn genetic diseases [RCV004025172]\|not provided [RCV001756192]	uncertain significance	1	25809038	25809038	Human	2	alternate_id
13804952	CV557244	single nucleotide variant	NM_020451.3(SELENON):c.847G>A (p.Asp283Asn)	Eichsfeld type congenital muscular dystrophy [RCV000685472]	uncertain significance	1	25809125	25809125	Human	1	alternate_id
13802323	CV557246	single nucleotide variant	NM_020451.3(SELENON):c.1375C>T (p.Gln459Ter)	Eichsfeld type congenital muscular dystrophy [RCV000698272]	pathogenic\|likely pathogenic	1	25812780	25812780	Human	1	alternate_id
13820063	CV557248	single nucleotide variant	NC_000001.11:g.25812791A>G	Eichsfeld type congenital muscular dystrophy [RCV000694730]	uncertain significance	1	25812791	25812791	Human	1	alternate_id
13816096	CV557250	single nucleotide variant	NM_020451.3(SELENON):c.1405C>T (p.Arg469Trp)	Eichsfeld type congenital muscular dystrophy [RCV000692095]\|not provided [RCV001584567]	pathogenic\|likely pathogenic	1	25813898	25813898	Human	1	alternate_id
13808836	CV557281	single nucleotide variant	NM_020451.3(SELENON):c.686G>C (p.Ser229Thr)	Eichsfeld type congenital muscular dystrophy [RCV000687464]	uncertain significance	1	25808728	25808728	Human	1	alternate_id
13809787	CV557283	single nucleotide variant	NM_020451.3(SELENON):c.935A>G (p.Gln312Arg)	Eichsfeld type congenital muscular dystrophy [RCV000702293]\|Inborn genetic diseases [RCV004026588]	uncertain significance	1	25809745	25809745	Human	2	alternate_id
13813165	CV558471	single nucleotide variant	NM_020451.3(SELENON):c.1195G>C (p.Val399Leu)	Eichsfeld type congenital muscular dystrophy [RCV000689965]	uncertain significance	1	25811793	25811793	Human	1	alternate_id
13801336	CV576535	single nucleotide variant	NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp)	Eichsfeld type congenital muscular dystrophy [RCV000791287]\|Eichsfeld type congenital muscular dystrophy [RCV001861985]\|See cases [RCV003985417]\|not provided [RCV000713178]	likely pathogenic\|uncertain significance	1	25811710	25811710	Human	1	alternate_id
13832594	CV583080	single nucleotide variant	NM_020451.3(SELENON):c.455G>T (p.Ser152Ile)	Eichsfeld type congenital muscular dystrophy [RCV000723291]\|not provided [RCV005414535]	uncertain significance	1	25805193	25805193	Human	1	alternate_id
13836259	CV587529	single nucleotide variant	NM_020451.3(SELENON):c.1351C>G (p.Leu451Val)	Eichsfeld type congenital muscular dystrophy [RCV001037379]\|not provided [RCV000732317]	uncertain significance	1	25812756	25812756	Human	1	alternate_id
14396484	CV612256	microsatellite	NM_020451.3(SELENON):c.8_12dup (p.Arg5fs)	Eichsfeld type congenital muscular dystrophy [RCV000761458]	pathogenic	1	25800232	25800233	Human		alternate_id
14692967	CV619997	deletion	NM_020451.3(SELENON):c.180del (p.Gln61fs)	Eichsfeld type congenital muscular dystrophy [RCV001856153]	pathogenic\|uncertain significance	1	25800409	25800409	Human	1	alternate_id
14692968	CV620721	duplication	NM_020451.3(SELENON):c.537+1dup	SEPN1-related disorder [RCV000778234]	uncertain significance	1	25805272	25805273	Human		trait , alternate_id
14702088	CV627726	single nucleotide variant	NM_020451.3(SELENON):c.10G>C (p.Ala4Pro)	Eichsfeld type congenital muscular dystrophy [RCV000821559]\|Inborn genetic diseases [RCV004659235]	uncertain significance	1	25800240	25800240	Human	2	alternate_id
14717075	CV627727	single nucleotide variant	NM_020451.3(SELENON):c.82G>T (p.Ala28Ser)	Eichsfeld type congenital muscular dystrophy [RCV000806146]	likely benign\|uncertain significance	1	25800312	25800312	Human	1	alternate_id
14702022	CV627728	duplication	NM_020451.3(SELENON):c.125_136dup (p.Ala42_Ala45dup)	Eichsfeld type congenital muscular dystrophy [RCV000821151]	uncertain significance	1	25800344	25800345	Human	1	alternate_id
14701988	CV627729	deletion	NM_020451.3(SELENON):c.300del (p.Ser102fs)	Eichsfeld type congenital muscular dystrophy [RCV000820653]	pathogenic	1	25801159	25801159	Human	1	alternate_id
14702072	CV627730	single nucleotide variant	NM_020451.3(SELENON):c.417G>A (p.Ala139=)	Eichsfeld type congenital muscular dystrophy [RCV000821309]	uncertain significance	1	25805155	25805155	Human	1	alternate_id
14717064	CV627731	single nucleotide variant	NM_020451.3(SELENON):c.457G>A (p.Glu153Lys)	Eichsfeld type congenital muscular dystrophy [RCV000806100]\|Inborn genetic diseases [RCV004028232]\|not provided [RCV001595042]	uncertain significance	1	25805195	25805195	Human	2	alternate_id
14701171	CV627732	single nucleotide variant	NM_020451.3(SELENON):c.802C>T (p.Arg268Cys)	Eichsfeld type congenital muscular dystrophy [RCV000814481]\|not provided [RCV001093411]	pathogenic\|likely pathogenic	1	25809080	25809080	Human	1	alternate_id
14701827	CV627733	single nucleotide variant	NM_020451.3(SELENON):c.871C>T (p.Arg291Trp)	Eichsfeld type congenital muscular dystrophy [RCV000819498]\|not provided [RCV004702455]	likely pathogenic\|uncertain significance	1	25809149	25809149	Human	1	alternate_id
14701762	CV627734	single nucleotide variant	NM_020451.3(SELENON):c.943G>C (p.Gly315Arg)	Eichsfeld type congenital muscular dystrophy [RCV000819167]	uncertain significance	1	25809753	25809753	Human	1	alternate_id
14702346	CV627735	single nucleotide variant	NM_020451.3(SELENON):c.1158C>G (p.Ile386Met)	Eichsfeld type congenital muscular dystrophy [RCV000823675]\|Inborn genetic diseases [RCV004958179]	uncertain significance	1	25811756	25811756	Human	2	alternate_id
14702218	CV627736	single nucleotide variant	NM_020451.3(SELENON):c.1180G>T (p.Glu394Ter)	Eichsfeld type congenital muscular dystrophy [RCV000822846]	pathogenic	1	25811778	25811778	Human	1	alternate_id
14701841	CV627737	single nucleotide variant	NM_020451.3(SELENON):c.1339G>A (p.Val447Met)	Eichsfeld type congenital muscular dystrophy [RCV000819851]	uncertain significance	1	25812744	25812744	Human	1	alternate_id
14713829	CV627738	single nucleotide variant	NM_020451.3(SELENON):c.1379C>T (p.Ser460Phe)	Eichsfeld type congenital muscular dystrophy [RCV000794147]\|not provided [RCV004696994]\|not specified [RCV004526024]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	25812784	25812784	Human	1	alternate_id
14714198	CV627739	single nucleotide variant	NM_020451.3(SELENON):c.1427C>G (p.Ser476Trp)	Eichsfeld type congenital muscular dystrophy [RCV000795582]	uncertain significance	1	25813920	25813920	Human	1	alternate_id
14702327	CV650633	deletion	NC_000001.11:g.25800167_25800266del	Eichsfeld type congenital muscular dystrophy [RCV000823425]	pathogenic	1	25800159	25800258	Human	1	alternate_id
14701408	CV650648	deletion	NM_020451.2(SELENON):c.-55_183del	Eichsfeld type congenital muscular dystrophy [RCV000816417]	pathogenic	1	25800175	25800412	Human	1	alternate_id
14714570	CV650656	single nucleotide variant	NM_020451.3(SELENON):c.538-3C>T	Eichsfeld type congenital muscular dystrophy [RCV000797336]	uncertain significance	1	25808577	25808577	Human	1	alternate_id
14718351	CV650663	single nucleotide variant	NM_020451.3(SELENON):c.872+7G>A	Eichsfeld type congenital muscular dystrophy [RCV000811323]	likely benign\|uncertain significance	1	25809157	25809157	Human	1	alternate_id
14715033	CV650732	single nucleotide variant	NM_020451.3(SELENON):c.302-3C>G	Eichsfeld type congenital muscular dystrophy [RCV000798969]	uncertain significance	1	25802013	25802013	Human	1	alternate_id
14701179	CV650735	single nucleotide variant	NM_020451.3(SELENON):c.873-2A>G	Eichsfeld type congenital muscular dystrophy [RCV000814509]	likely pathogenic\|conflicting interpretations of pathogenicity	1	25809681	25809681	Human	1	alternate_id
14718459	CV650736	single nucleotide variant	NM_020451.3(SELENON):c.1388-3C>T	Eichsfeld type congenital muscular dystrophy [RCV000811554]	uncertain significance	1	25813878	25813878	Human	1	alternate_id
14701322	CV650740	single nucleotide variant	NM_020451.3(SELENON):c.1501-1G>A	Eichsfeld type congenital muscular dystrophy [RCV000815877]	likely pathogenic\|conflicting interpretations of pathogenicity	1	25814076	25814076	Human	1	alternate_id
15104729	CV689657	single nucleotide variant	NM_020451.3(SELENON):c.183+10C>G	Eichsfeld type congenital muscular dystrophy [RCV001493875]	likely benign	1	25800423	25800423	Human	1	alternate_id
15133670	CV690578	single nucleotide variant	NM_020451.3(SELENON):c.717C>T (p.Arg239=)	Eichsfeld type congenital muscular dystrophy [RCV000876348]\|not provided [RCV001564879]	likely benign	1	25808759	25808759	Human	1	alternate_id
15151779	CV696657	single nucleotide variant	NM_020451.3(SELENON):c.580G>C (p.Ala194Pro)	Eichsfeld type congenital muscular dystrophy [RCV000945753]	benign	1	25808622	25808622	Human	1	alternate_id
15107829	CV707288	single nucleotide variant	NM_020451.3(SELENON):c.882C>T (p.Ala294=)	Eichsfeld type congenital muscular dystrophy [RCV001511571]	benign	1	25809692	25809692	Human	1	alternate_id
15175391	CV718867	single nucleotide variant	NM_020451.3(SELENON):c.957C>G (p.Leu319=)	Eichsfeld type congenital muscular dystrophy [RCV003502557]	likely benign	1	25809767	25809767	Human	1	alternate_id
15127552	CV732339	single nucleotide variant	NM_020451.3(SELENON):c.414C>T (p.Pro138=)	Eichsfeld type congenital muscular dystrophy [RCV000897132]\|not provided [RCV003334026]	likely benign	1	25805152	25805152	Human	1	alternate_id
15122122	CV732340	single nucleotide variant	NM_020451.3(SELENON):c.858C>T (p.Tyr286=)	Eichsfeld type congenital muscular dystrophy [RCV000896187]	likely benign	1	25809136	25809136	Human	1	alternate_id
15114158	CV732341	single nucleotide variant	NM_020451.3(SELENON):c.942C>T (p.Thr314=)	Eichsfeld type congenital muscular dystrophy [RCV000894803]	likely benign	1	25809752	25809752	Human	1	alternate_id
15130118	CV732342	single nucleotide variant	NM_020451.3(SELENON):c.1077C>T (p.Ile359=)	Eichsfeld type congenital muscular dystrophy [RCV000897553]	likely benign	1	25811520	25811520	Human	1	alternate_id
15162428	CV746390	single nucleotide variant	NM_020451.3(SELENON):c.1344C>T (p.His448=)	Eichsfeld type congenital muscular dystrophy [RCV002066028]\|not provided [RCV003884807]	likely benign	1	25812749	25812749	Human	1	alternate_id
15162234	CV746391	single nucleotide variant	NM_020451.3(SELENON):c.1710G>C (p.Thr570=)	Eichsfeld type congenital muscular dystrophy [RCV002541528]	likely benign	1	25815655	25815655	Human	1	alternate_id
15105549	CV761842	single nucleotide variant	NM_020451.3(SELENON):c.996C>T (p.Phe332=)	Eichsfeld type congenital muscular dystrophy [RCV000937608]	likely benign	1	25809806	25809806	Human	1	alternate_id
15153896	CV777061	single nucleotide variant	NM_020451.3(SELENON):c.1500+8G>A	Eichsfeld type congenital muscular dystrophy [RCV001490512]	likely benign	1	25814001	25814001	Human	1	alternate_id
15121815	CV780659	single nucleotide variant	NM_020451.3(SELENON):c.99G>C (p.Leu33=)	Eichsfeld type congenital muscular dystrophy [RCV000979535]	likely benign	1	25800329	25800329	Human	1	alternate_id
15100985	CV780660	single nucleotide variant	NM_020451.3(SELENON):c.225C>T (p.Leu75=)	Eichsfeld type congenital muscular dystrophy [RCV001427896]	likely benign	1	25801084	25801084	Human	1	alternate_id
15109231	CV780661	single nucleotide variant	NM_020451.3(SELENON):c.684G>C (p.Leu228=)	Eichsfeld type congenital muscular dystrophy [RCV001464990]	likely benign	1	25808726	25808726	Human	1	alternate_id
21067823	CV792888	single nucleotide variant	NM_020451.3(SELENON):c.1249C>T (p.Arg417Cys)	Eichsfeld type congenital muscular dystrophy [RCV001358858]\|not provided [RCV000992918]	uncertain significance	1	25811847	25811847	Human	1	alternate_id
26920081	CV823849	deletion	NM_020451.3(SELENON):c.-26_12del (p.Met1fs)	Eichsfeld type congenital muscular dystrophy [RCV001046947]	pathogenic\|likely pathogenic	1	25800198	25800235	Human	1	alternate_id
26904045	CV823850	single nucleotide variant	NM_020451.3(SELENON):c.7C>G (p.Arg3Gly)	Eichsfeld type congenital muscular dystrophy [RCV001070213]	uncertain significance	1	25800237	25800237	Human	1	alternate_id
26919526	CV823851	single nucleotide variant	NM_020451.3(SELENON):c.65C>T (p.Ala22Val)	Eichsfeld type congenital muscular dystrophy [RCV001045720]\|Inborn genetic diseases [RCV005268870]\|not provided [RCV004822291]	uncertain significance	1	25800295	25800295	Human	2	alternate_id
26897140	CV823852	single nucleotide variant	NM_020451.3(SELENON):c.276C>A (p.Phe92Leu)	Eichsfeld type congenital muscular dystrophy [RCV001065269]	uncertain significance	1	25801135	25801135	Human	1	alternate_id
26915762	CV823853	single nucleotide variant	NM_020451.3(SELENON):c.481C>T (p.Arg161Ter)	Congenital myopathy with fiber type disproportion [RCV001732020]\|Eichsfeld type congenital muscular dystrophy [RCV001039378]	pathogenic\|likely pathogenic	1	25805219	25805219	Human	2	alternate_id
26917078	CV823854	single nucleotide variant	NM_020451.3(SELENON):c.500C>T (p.Pro167Leu)	Eichsfeld type congenital muscular dystrophy [RCV001041299]\|not provided [RCV001759951]	uncertain significance	1	25805238	25805238	Human	1	alternate_id
26886279	CV823855	single nucleotide variant	NM_020451.3(SELENON):c.793G>A (p.Val265Met)	Eichsfeld type congenital muscular dystrophy [RCV001054739]	uncertain significance	1	25809071	25809071	Human	1	alternate_id
26916662	CV823856	single nucleotide variant	NM_020451.3(SELENON):c.902C>T (p.Pro301Leu)	Eichsfeld type congenital muscular dystrophy [RCV001040787]	uncertain significance	1	25809712	25809712	Human	1	alternate_id
26917391	CV823857	single nucleotide variant	NM_020451.3(SELENON):c.1072G>A (p.Asp358Asn)	Eichsfeld type congenital muscular dystrophy [RCV001041803]	uncertain significance	1	25811515	25811515	Human	1	alternate_id
26914043	CV823858	duplication	NM_020451.3(SELENON):c.1209dup (p.Lys404fs)	Eichsfeld type congenital muscular dystrophy [RCV001036948]	pathogenic\|likely pathogenic	1	25811806	25811807	Human	1	alternate_id
26919519	CV823859	single nucleotide variant	NM_020451.3(SELENON):c.1348A>G (p.Ile450Val)	Eichsfeld type congenital muscular dystrophy [RCV001045705]	uncertain significance	1	25812753	25812753	Human	1	alternate_id
26914153	CV823860	single nucleotide variant	NM_020451.3(SELENON):c.1369G>T (p.Asp457Tyr)	Eichsfeld type congenital muscular dystrophy [RCV001037082]	uncertain significance	1	25812774	25812774	Human	1	alternate_id
26913403	CV823861	deletion	NM_020451.3(SELENON):c.1465_1466del (p.Thr489fs)	Eichsfeld type congenital muscular dystrophy [RCV001035772]	uncertain significance	1	25813957	25813958	Human	1	alternate_id
26891165	CV823862	single nucleotide variant	NM_020451.3(SELENON):c.1477G>C (p.Val493Leu)	Eichsfeld type congenital muscular dystrophy [RCV001060175]	uncertain significance	1	25813970	25813970	Human	1	alternate_id
26896995	CV823863	single nucleotide variant	NM_020451.3(SELENON):c.1517C>T (p.Ser506Leu)	Eichsfeld type congenital muscular dystrophy [RCV001065040]\|Inborn genetic diseases [RCV004659332]\|not provided [RCV002259380]	uncertain significance	1	25814093	25814093	Human	2	alternate_id
26920216	CV823864	single nucleotide variant	NM_020451.3(SELENON):c.*1107T>C	Eichsfeld type congenital muscular dystrophy [RCV001047138]\|not provided [RCV004702600]	pathogenic\|likely pathogenic	1	25816825	25816825	Human	1	alternate_id
26915765	CV851295	single nucleotide variant	NM_020451.3(SELENON):c.1010+1G>A	Eichsfeld type congenital muscular dystrophy [RCV001039380]	pathogenic\|likely pathogenic	1	25809821	25809821	Human	1	alternate_id
26903571	CV858475	insertion	Single allele	Eichsfeld type congenital muscular dystrophy [RCV001089857]	pathogenic				Human	1	alternate_id
28880067	CV858937	single nucleotide variant	NM_020451.3(SELENON):c.1744C>T (p.Arg582Trp)	Eichsfeld type congenital muscular dystrophy [RCV001862683]\|Inborn genetic diseases [RCV004960440]\|not provided [RCV001090914]	uncertain significance	1	25815689	25815689	Human	2	alternate_id
28893595	CV864232	single nucleotide variant	NM_020451.3(SELENON):c.-1C>A	SEPN1-related disorder [RCV001101035]	uncertain significance	1	25800230	25800230	Human	1	trait , alternate_id
28882849	CV864233	single nucleotide variant	NM_020451.3(SELENON):c.164C>T (p.Ala55Val)	Eichsfeld type congenital muscular dystrophy [RCV001296109]\|SEPN1-related disorder [RCV001097300]	uncertain significance	1	25800394	25800394	Human	1	trait , alternate_id
28888294	CV864234	single nucleotide variant	NM_020451.3(SELENON):c.957C>T (p.Leu319=)	Eichsfeld type congenital muscular dystrophy [RCV002067753]\|SEPN1-related disorder [RCV001099053]	likely benign\|uncertain significance	1	25809767	25809767	Human	1	trait , alternate_id
28888300	CV864235	single nucleotide variant	NM_020451.3(SELENON):c.980G>A (p.Arg327His)	Eichsfeld type congenital muscular dystrophy [RCV001856342]\|Inborn genetic diseases [RCV004963112]\|SEPN1-related disorder [RCV001099054]\|not specified [RCV004800693]	uncertain significance	1	25809790	25809790	Human	2	trait , alternate_id
28893181	CV864236	single nucleotide variant	NM_020451.3(SELENON):c.1141G>A (p.Glu381Lys)	SEPN1-related disorder [RCV001100861]	uncertain significance	1	25811739	25811739	Human	1	trait , alternate_id
28893793	CV864237	single nucleotide variant	NM_020451.3(SELENON):c.1295C>T (p.Pro432Leu)	Eichsfeld type congenital muscular dystrophy [RCV001373952]\|Inborn genetic diseases [RCV004032076]\|SEPN1-related disorder [RCV001101131]\|not provided [RCV004546602]	uncertain significance	1	25812700	25812700	Human	2	trait , alternate_id
28888546	CV864238	single nucleotide variant	NM_020451.3(SELENON):c.*63C>T	SEPN1-related disorder [RCV001099132]	likely benign	1	25815781	25815781	Human	1	trait , alternate_id
28888551	CV864239	single nucleotide variant	NM_020451.3(SELENON):c.*144C>G	SEPN1-related disorder [RCV001099133]\|not provided [RCV001619884]	benign	1	25815862	25815862	Human	1	trait , alternate_id
28888554	CV864240	single nucleotide variant	NM_020451.3(SELENON):c.*316C>T	SEPN1-related disorder [RCV001099134]	likely benign	1	25816034	25816034	Human	1	trait , alternate_id
28888859	CV864241	single nucleotide variant	NM_020451.3(SELENON):c.*501G>A	SEPN1-related disorder [RCV001099228]	benign	1	25816219	25816219	Human	1	trait , alternate_id
28888861	CV864242	single nucleotide variant	NM_020451.3(SELENON):c.*679C>T	SEPN1-related disorder [RCV001099229]	uncertain significance	1	25816397	25816397	Human	1	trait , alternate_id
28888867	CV864243	single nucleotide variant	NM_020451.3(SELENON):c.*698T>C	SEPN1-related disorder [RCV001099230]	benign	1	25816416	25816416	Human	1	trait , alternate_id
28894040	CV864244	single nucleotide variant	NM_020451.3(SELENON):c.*938C>T	SEPN1-related disorder [RCV001101226]\|not provided [RCV003127632]	likely benign	1	25816656	25816656	Human	1	trait , alternate_id
28894043	CV864245	single nucleotide variant	NM_020451.3(SELENON):c.*942T>G	SEPN1-related disorder [RCV001101227]	uncertain significance	1	25816660	25816660	Human	1	trait , alternate_id
28894047	CV864246	single nucleotide variant	NM_020451.3(SELENON):c.*987T>C	SEPN1-related disorder [RCV001101228]	uncertain significance	1	25816705	25816705	Human	1	trait , alternate_id
28894050	CV864247	single nucleotide variant	NM_020451.3(SELENON):c.*1200C>T	SEPN1-related disorder [RCV001101229]	uncertain significance	1	25816918	25816918	Human	1	trait , alternate_id
28894054	CV864248	single nucleotide variant	NM_020451.3(SELENON):c.*1231A>G	SEPN1-related disorder [RCV001101230]	uncertain significance	1	25816949	25816949	Human	1	trait , alternate_id
28883356	CV864249	single nucleotide variant	NM_020451.3(SELENON):c.*1251A>G	SEPN1-related disorder [RCV001097476]	uncertain significance	1	25816969	25816969	Human	1	trait , alternate_id
28883360	CV864250	single nucleotide variant	NM_020451.3(SELENON):c.*1357A>C	SEPN1-related disorder [RCV001097477]	uncertain significance	1	25817075	25817075	Human	1	trait , alternate_id
28883364	CV864251	single nucleotide variant	NM_020451.3(SELENON):c.*1406C>T	SEPN1-related disorder [RCV001097478]	uncertain significance	1	25817124	25817124	Human	1	trait , alternate_id
28883367	CV864252	single nucleotide variant	NM_020451.3(SELENON):c.*1435G>A	SEPN1-related disorder [RCV001097479]	uncertain significance	1	25817153	25817153	Human	1	trait , alternate_id
28883696	CV864253	single nucleotide variant	NM_020451.3(SELENON):c.*1652A>G	SEPN1-related disorder [RCV001097580]	uncertain significance	1	25817370	25817370	Human	1	trait , alternate_id
28889177	CV864254	single nucleotide variant	NM_020451.3(SELENON):c.*1787G>A	SEPN1-related disorder [RCV001099336]	uncertain significance	1	25817505	25817505	Human	1	trait , alternate_id
28889179	CV864255	single nucleotide variant	NM_020451.3(SELENON):c.*1831A>G	SEPN1-related disorder [RCV001099337]	likely benign	1	25817549	25817549	Human	1	trait , alternate_id
28889181	CV864256	single nucleotide variant	NM_020451.3(SELENON):c.*1840G>A	SEPN1-related disorder [RCV001099338]	uncertain significance	1	25817558	25817558	Human	1	trait , alternate_id
28889186	CV864257	single nucleotide variant	NM_020451.3(SELENON):c.*1944T>C	SEPN1-related disorder [RCV001099339]	likely benign	1	25817662	25817662	Human	1	trait , alternate_id
28889189	CV864258	single nucleotide variant	NM_020451.3(SELENON):c.*2043G>T	SEPN1-related disorder [RCV001099340]	benign	1	25817761	25817761	Human	1	trait , alternate_id
28894283	CV864259	single nucleotide variant	NM_020451.3(SELENON):c.*2130C>T	SEPN1-related disorder [RCV001101329]	benign	1	25817848	25817848	Human	1	trait , alternate_id
28894286	CV864260	single nucleotide variant	NM_020451.3(SELENON):c.*2158C>T	SEPN1-related disorder [RCV001101330]	uncertain significance	1	25817876	25817876	Human	1	trait , alternate_id
28894290	CV864261	single nucleotide variant	NM_020451.3(SELENON):c.*2257C>T	SEPN1-related disorder [RCV001101331]	uncertain significance	1	25817975	25817975	Human	1	trait , alternate_id
28894294	CV864262	single nucleotide variant	NM_020451.3(SELENON):c.*2403G>A	SEPN1-related disorder [RCV001101332]	uncertain significance	1	25818121	25818121	Human	1	trait , alternate_id
28894296	CV864263	single nucleotide variant	NM_020451.3(SELENON):c.*2437T>G	SEPN1-related disorder [RCV001101333]	uncertain significance	1	25818155	25818155	Human	1	trait , alternate_id
28882852	CV865173	single nucleotide variant	NM_020451.3(SELENON):c.302-11T>A	SEPN1-related disorder [RCV001097301]	uncertain significance	1	25802005	25802005	Human	1	trait , alternate_id
28893180	CV865174	single nucleotide variant	NM_020451.3(SELENON):c.1010+14C>G	SEPN1-related disorder [RCV001100860]	uncertain significance	1	25809834	25809834	Human	1	trait , alternate_id
38459115	CV918201	deletion	NM_020451.3(SELENON):c.746_747+36del	Eichsfeld type congenital muscular dystrophy [RCV001863086]\|Muscular dystrophy [RCV001195544]\|SELENON-related myopathy [RCV003225961]	pathogenic	1	25808787	25808824	Human	3	alternate_id
38461389	CV920147	single nucleotide variant	NM_020451.3(SELENON):c.538-1G>A	Eichsfeld type congenital muscular dystrophy [RCV001377599]\|See cases [RCV001197253]	likely pathogenic	1	25808579	25808579	Human	1	alternate_id
38477163	CV921980	single nucleotide variant	NM_020451.3(SELENON):c.372G>A (p.Trp124Ter)	Eichsfeld type congenital muscular dystrophy [RCV001216012]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	25802086	25802086	Human	1	alternate_id
38491351	CV921981	single nucleotide variant	NM_020451.3(SELENON):c.550G>A (p.Ala184Thr)	Eichsfeld type congenital muscular dystrophy [RCV001222781]\|Inborn genetic diseases [RCV004963240]	uncertain significance	1	25808592	25808592	Human	2	alternate_id
38493179	CV921982	single nucleotide variant	NM_020451.3(SELENON):c.565C>T (p.Arg189Ter)	Eichsfeld type congenital muscular dystrophy [RCV001224095]\|not provided [RCV003156323]	pathogenic\|likely pathogenic	1	25808607	25808607	Human	1	alternate_id
38474343	CV921983	microsatellite	NM_020451.3(SELENON):c.863_864del (p.Val288fs)	Eichsfeld type congenital muscular dystrophy [RCV001214700]	pathogenic\|likely pathogenic	1	25809139	25809140	Human		alternate_id
38483188	CV921984	single nucleotide variant	NM_020451.3(SELENON):c.989G>A (p.Arg330Gln)	Eichsfeld type congenital muscular dystrophy [RCV001218823]\|Inborn genetic diseases [RCV003346379]	uncertain significance	1	25809799	25809799	Human	2	alternate_id
38483082	CV921985	single nucleotide variant	NM_020451.3(SELENON):c.1367T>G (p.Leu456Arg)	Eichsfeld type congenital muscular dystrophy [RCV001218773]	uncertain significance	1	25812772	25812772	Human	1	alternate_id
38488799	CV930452	single nucleotide variant	NM_020451.3(SELENON):c.730C>T (p.Pro244Ser)	Eichsfeld type congenital muscular dystrophy [RCV001209919]	uncertain significance	1	25808772	25808772	Human	1	alternate_id
38480571	CV930453	single nucleotide variant	NM_020451.3(SELENON):c.737A>G (p.Lys246Arg)	Eichsfeld type congenital muscular dystrophy [RCV001206447]\|Inborn genetic diseases [RCV004033673]	uncertain significance	1	25808779	25808779	Human	2	alternate_id
38470467	CV930454	single nucleotide variant	NM_020451.3(SELENON):c.746A>T (p.Glu249Val)	Eichsfeld type congenital muscular dystrophy [RCV001213573]	uncertain significance	1	25808788	25808788	Human	1	alternate_id
38469736	CV930455	single nucleotide variant	NM_020451.3(SELENON):c.1243G>A (p.Ala415Thr)	Eichsfeld type congenital muscular dystrophy [RCV001202378]	uncertain significance	1	25811841	25811841	Human	1	alternate_id
38461875	CV930456	single nucleotide variant	NM_020451.3(SELENON):c.1363G>T (p.Ala455Ser)	Eichsfeld type congenital muscular dystrophy [RCV001212108]	uncertain significance	1	25812768	25812768	Human	1	alternate_id
38472386	CV930457	microsatellite	NM_020451.3(SELENON):c.1572GAT[2] (p.Met526del)	Eichsfeld type congenital muscular dystrophy [RCV001214061]	uncertain significance	1	25814148	25814150	Human		alternate_id
38456965	CV930458	single nucleotide variant	NM_020451.3(SELENON):c.1607A>G (p.His536Arg)	Eichsfeld type congenital muscular dystrophy [RCV001210985]	uncertain significance	1	25815552	25815552	Human	1	alternate_id
38469957	CV930459	single nucleotide variant	NM_020451.3(SELENON):c.1744C>G (p.Arg582Gly)	Eichsfeld type congenital muscular dystrophy [RCV001202481]	uncertain significance	1	25815689	25815689	Human	1	alternate_id
38483130	CV939808	single nucleotide variant	NM_020451.3(SELENON):c.183+3C>T	Eichsfeld type congenital muscular dystrophy [RCV001207529]	uncertain significance	1	25800416	25800416	Human	1	alternate_id
38458140	CV939809	single nucleotide variant	NM_020451.3(SELENON):c.1092+6C>T	Eichsfeld type congenital muscular dystrophy [RCV001211336]	uncertain significance	1	25811541	25811541	Human	1	alternate_id
38474266	CV939810	single nucleotide variant	NM_020451.3(SELENON):c.1282-3C>G	Eichsfeld type congenital muscular dystrophy [RCV001203744]	uncertain significance	1	25812684	25812684	Human	1	alternate_id
38483447	CV939811	single nucleotide variant	NM_020451.3(SELENON):c.1602+1G>A	Eichsfeld type congenital muscular dystrophy [RCV001207653]	conflicting interpretations of pathogenicity\|uncertain significance	1	25814179	25814179	Human	1	alternate_id
38497778	CV941904	duplication	NM_020451.3(SELENON):c.19_47dup (p.Ala18fs)	Eichsfeld type congenital muscular dystrophy [RCV001227309]	pathogenic	1	25800248	25800249	Human	1	alternate_id
38470237	CV941905	single nucleotide variant	NM_020451.3(SELENON):c.392T>G (p.Leu131Arg)	Eichsfeld type congenital muscular dystrophy [RCV001230925]	uncertain significance	1	25802106	25802106	Human	1	alternate_id
38463624	CV941906	deletion	NM_020451.3(SELENON):c.643del (p.Gln215fs)	Eichsfeld type congenital muscular dystrophy [RCV001229877]	pathogenic	1	25808684	25808684	Human	1	alternate_id
38495431	CV941907	single nucleotide variant	NM_020451.3(SELENON):c.760C>G (p.Arg254Gly)	Eichsfeld type congenital muscular dystrophy [RCV001225712]	uncertain significance	1	25809038	25809038	Human	1	alternate_id
38496531	CV941908	deletion	NM_020451.3(SELENON):c.1510_1512del (p.Glu504del)	Eichsfeld type congenital muscular dystrophy [RCV001226454]	uncertain significance	1	25814084	25814086	Human	1	alternate_id
38484234	CV941909	single nucleotide variant	NM_020451.3(SELENON):c.1524C>A (p.His508Gln)	Eichsfeld type congenital muscular dystrophy [RCV001236255]	uncertain significance	1	25814100	25814100	Human	1	alternate_id
38493228	CV952380	single nucleotide variant	NM_020451.3(SELENON):c.205G>C (p.Gly69Arg)	Eichsfeld type congenital muscular dystrophy [RCV001240562]\|not provided [RCV004793338]	uncertain significance	1	25801064	25801064	Human	1	alternate_id
38465361	CV952381	single nucleotide variant	NM_020451.3(SELENON):c.410C>T (p.Thr137Ile)	Eichsfeld type congenital muscular dystrophy [RCV001247543]	uncertain significance	1	25805148	25805148	Human	1	alternate_id
38494738	CV952382	single nucleotide variant	NM_020451.3(SELENON):c.977T>G (p.Val326Gly)	Eichsfeld type congenital muscular dystrophy [RCV001241500]	uncertain significance	1	25809787	25809787	Human	1	alternate_id
38487378	CV959555	single nucleotide variant	NM_020451.3(SELENON):c.404-1G>A	Eichsfeld type congenital muscular dystrophy [RCV001237547]	pathogenic\|likely pathogenic	1	25805141	25805141	Human	1	alternate_id
38499342	CV960428	single nucleotide variant	NM_020451.3(SELENON):c.1387+6G>A	Eichsfeld type congenital muscular dystrophy [RCV001244514]	uncertain significance	1	25812798	25812798	Human	1	alternate_id
38598072	CV963121	single nucleotide variant	NM_020451.3(SELENON):c.872+1G>A	Eichsfeld type congenital muscular dystrophy [RCV001251099]	likely pathogenic	1	25809151	25809151	Human	1	alternate_id
126766915	CV987461	single nucleotide variant	NM_020451.3(SELENON):c.545G>A (p.Arg182His)	Eichsfeld type congenital muscular dystrophy [RCV001302079]\|not provided [RCV002261331]	uncertain significance	1	25808587	25808587	Human	1	alternate_id
126758421	CV987462	single nucleotide variant	NM_020451.3(SELENON):c.1663G>A (p.Glu555Lys)	Eichsfeld type congenital muscular dystrophy [RCV001308715]\|not provided [RCV004691408]	uncertain significance	1	25815608	25815608	Human	1	alternate_id

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