Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_206926.2(SELENON):c.716G>A (p.Gly239Glu)	SNV Germline	Chr1:25809096	Pathogenic	Eichsfeld type congenital muscular dystrophy	No Assertion Criteria Provided	CA253166	rs_121908182	1 SubmittersRCV000004746
NM_020451.2(SELENON):c.1385G>A (p.Sec462=)	SNV Germline	Chr1:25812790	Pathogenic	Eichsfeld type congenital muscular dystrophy	No Assertion Criteria Provided	CA253167	rs_587776597	1 SubmittersRCV000004747
NM_206926.2(SELENON):c.1A>G (p.Met1Val)	SNV Germline	Chr1:25800231	Pathogenic/Likely pathogenic	Eichsfeld type congenital muscular dystrophy Condition: not provided Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion	Criteria Provided Multiple Submitters No Conflicts	CA253168	rs_121908184	8 SubmittersRCV000004748 RCV000482307 RCV002288464 RCV002504747
NM_206926.2(SELENON):c.1295G>A (p.Arg432Gln)	SNV Germline	Chr1:25813890	Pathogenic/Likely pathogenic	Eichsfeld type congenital muscular dystrophy Condition: not provided SEPN1-related disorder Muscular dystrophy Cleft lip/palate Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA253170	rs_121908185	16 SubmittersRCV000004749 RCV000413832 RCV000778977 RCV001195543 RCV005624672 RCV006362013
NM_206926.2(SELENON):c.1256G>C (p.Trp419Ser)	SNV Germline	Chr1:25812763	Likely pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Single Submitter	CA253171	rs_121908186	2 SubmittersRCV000004750
NM_020451.3(SELENON):c.1384T>G	SNV Germline	Chr1:25812789	Pathogenic	Eichsfeld type congenital muscular dystrophy	No Assertion Criteria Provided	CA253173	rs_121908187	1 SubmittersRCV000004752
NM_206926.2(SELENON):c.841G>A (p.Gly281Ser)	SNV Germline	Chr1:25809753	Pathogenic/Likely pathogenic	Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion Condition: not provided Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion SEPN1-related disorder Eichsfeld type congenital muscular dystrophy Congenital myopathy 4A, autosomal dominant SELENON-related myopathy Malignant tumor of esophagus Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA223589	rs_121908188	29 SubmittersRCV000004753 RCV000004754 RCV000082020 RCV000681664 RCV000778235 RCV003224794 RCV003993737 RCV005887294 RCV006362014
NM_206926.2(SELENON):c.103G>C (p.Gly35Arg)	SNV Germline	Chr1:25800333	Conflicting classifications of pathogenicity	Eichsfeld type congenital muscular dystrophy Condition: not provided SEPN1-related disorder Congenital myopathy with fiber type disproportion Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA223578	rs_398124359	10 SubmittersRCV000558595 RCV000723675 RCV001097299 RCV001329140 RCV003162515 RCV003398680
NM_206926.2(SELENON):c.1213C>T (p.Arg405Ter)	SNV Germline	Chr1:25812720	Pathogenic	Condition: not provided Eichsfeld type congenital muscular dystrophy See cases	Criteria Provided Multiple Submitters No Conflicts	CA223582	rs_377215510	12 SubmittersRCV000082011 RCV000792332 RCV001197254
NM_206926.2(SELENON):c.1494C>T (p.Gly498=)	SNV Germline	Chr1:25814172	Conflicting classifications of pathogenicity	Condition: not provided Eichsfeld type congenital muscular dystrophy SELENON-related disorder	Criteria Provided Conflicting Classifications	CA223584	rs_149623434	5 SubmittersRCV000723580 RCV001088210 RCV003945025
NM_206926.2(SELENON):c.1552G>A (p.Glu518Lys)	SNV Germline	Chr1:25815599	Conflicting classifications of pathogenicity	Eichsfeld type congenital muscular dystrophy Condition: not provided SEPN1-related disorder Congenital myopathy with fiber type disproportion not specified	Criteria Provided Conflicting Classifications	CA223586	rs_200128474	10 SubmittersRCV000542565 RCV000723596 RCV001097379 RCV001329142 RCV003398681
NM_206926.2(SELENON):c.1326G>A (p.Ser442=)	SNV Germline	Chr1:25813921	Conflicting classifications of pathogenicity	Condition: not provided Eichsfeld type congenital muscular dystrophy SEPN1-related disorder not specified	Criteria Provided Conflicting Classifications	CA239647	rs_41284305	6 SubmittersRCV000724226 RCV001086102 RCV001101132 RCV005434671
NM_206926.2(SELENON):c.770+2T>C	SNV Germline	Chr1:25809152	Pathogenic/Likely pathogenic	Condition: not provided Eichsfeld type congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA275352	rs_794727808	2 SubmittersRCV000179510 RCV002516794
NM_206926.2(SELENON):c.994G>T (p.Glu332Ter)	SNV Germline	Chr1:25811694	Pathogenic/Likely pathogenic	Condition: not provided Eichsfeld type congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA275449	rs_794727976	2 SubmittersRCV000180670 RCV002516827
NM_206926.2(SELENON):c.313G>A (p.Ala105Thr)	SNV Germline	Chr1:25805153	Conflicting classifications of pathogenicity	not specified Eichsfeld type congenital muscular dystrophy Condition: not provided SEPN1-related disorder Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA207149	rs_201692549	10 SubmittersRCV000193575 RCV000543024 RCV000725931 RCV001097302 RCV002492881
NM_206926.2(SELENON):c.81C>T (p.Arg27=)	SNV Germline	Chr1:25800311	Conflicting classifications of pathogenicity	not specified Eichsfeld type congenital muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10586734	rs_886038660	4 SubmittersRCV000242137 RCV000873512 RCV001753727
NM_206926.2(SELENON):c.363G>A (p.Thr121=)	SNV Germline	Chr1:25805203	Conflicting classifications of pathogenicity	not specified Eichsfeld type congenital muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA696511	rs_753774853	4 SubmittersRCV000253793 RCV000547825 RCV000584991
NM_206926.2(SELENON):c.627G>A (p.Pro209=)	SNV Germline	Chr1:25808771	Conflicting classifications of pathogenicity	not specified SEPN1-related disorder Condition: not provided Eichsfeld type congenital muscular dystrophy SELENON-related disorder	Criteria Provided Conflicting Classifications	CA696606	rs_139020143	8 SubmittersRCV000250797 RCV000292421 RCV000725590 RCV001081584 RCV003891962
NM_206926.2(SELENON):c.630G>A (p.Pro210=)	SNV Germline	Chr1:25808774	Conflicting classifications of pathogenicity	not specified Eichsfeld type congenital muscular dystrophy SEPN1-related disorder	Criteria Provided Conflicting Classifications	CA696609	rs_200765195	3 SubmittersRCV000242126 RCV000951535 RCV001099052
NM_206926.2(SELENON):c.1500+14C>T	SNV Germline	Chr1:25814192	Conflicting classifications of pathogenicity	not specified SEPN1-related disorder Eichsfeld type congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA696930	rs_41284307	4 SubmittersRCV000247113 RCV000260150 RCV002058293
NM_206926.2(SELENON):c.1608G>A (p.Thr536=)	SNV Germline	Chr1:25815655	Conflicting classifications of pathogenicity	not specified Eichsfeld type congenital muscular dystrophy SEPN1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA696972	rs_371398538	4 SubmittersRCV000243251 RCV000893098 RCV001097380 RCV001557483
NM_206926.2(SELENON):c.770G>A (p.Arg257Gln)	SNV Germline	Chr1:25809150	Pathogenic/Likely pathogenic	Condition: not provided Eichsfeld type congenital muscular dystrophy Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion See cases	Criteria Provided Multiple Submitters No Conflicts	CA696660	rs_199564797	9 SubmittersRCV000358099 RCV000800896 RCV000791286 RCV003985311
NM_206926.2(SELENON):c.1613C>A (p.Thr538Asn)	SNV Germline	Chr1:25815660	Conflicting classifications of pathogenicity	not specified Condition: not provided Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy SELENON-related disorder	Criteria Provided Conflicting Classifications	CA696975	rs_183272965	7 SubmittersRCV000340120 RCV000723478 RCV000765103 RCV001083468 RCV003920033
NM_206926.2(SELENON):c.7C>A (p.Arg3=)	SNV Germline	Chr1:25800237	Conflicting classifications of pathogenicity	Condition: not provided Eichsfeld type congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA10606958	rs_866566089	2 SubmittersRCV000259857 RCV001086966
NM_206926.2(SELENON):c.448G>C (p.Ala150Pro)	SNV Germline	Chr1:25808592	Conflicting classifications of pathogenicity	SEPN1-related disorder Eichsfeld type congenital muscular dystrophy Condition: not provided SELENON-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA696560	rs_199742668	8 SubmittersRCV000351042 RCV000544404 RCV000494289 RCV003949991 RCV006362238
NM_206926.2(SELENON):c.1008G>A (p.Thr336=)	SNV Germline	Chr1:25811708	Conflicting classifications of pathogenicity	SEPN1-related disorder Eichsfeld type congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA696767	rs_779080942	2 SubmittersRCV000406505 RCV000873164
NM_206926.2(SELENON):c.1602G>A (p.Pro534=)	SNV Germline	Chr1:25815649	Conflicting classifications of pathogenicity	SEPN1-related disorder not specified Eichsfeld type congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA696969	rs_754350384	3 SubmittersRCV000277904 RCV000615602 RCV001469690
NM_206926.2(SELENON):c.1521C>T (p.Asn507=)	SNV Germline	Chr1:25815568	Conflicting classifications of pathogenicity	SEPN1-related disorder Eichsfeld type congenital muscular dystrophy not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA696960	rs_199911454	5 SubmittersRCV000317644 RCV000636858 RCV000422681 RCV006445683
NM_206926.2(SELENON):c.776A>G (p.His259Arg)	SNV Germline	Chr1:25809688	Pathogenic/Likely pathogenic	SEPN1-related disorder Eichsfeld type congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA696675	rs_776738184	5 SubmittersRCV000349806 RCV002520484
NM_206926.2(SELENON):c.1536C>T (p.Ile512=)	SNV Germline	Chr1:25815583	Conflicting classifications of pathogenicity	not specified Condition: not provided Eichsfeld type congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA696963	rs_201066183	3 SubmittersRCV000439056 RCV000636860 RCV001084680
NM_206926.2(SELENON):c.1398+7G>A	SNV Germline	Chr1:25814000	Conflicting classifications of pathogenicity	Eichsfeld type congenital muscular dystrophy SEPN1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA696889	rs_200724231	3 SubmittersRCV000876107 RCV001101133 RCV001704392
NM_206926.2(SELENON):c.753C>G (p.Tyr251Ter)	SNV Germline	Chr1:25809133	Pathogenic/Likely pathogenic	Condition: not provided Eichsfeld type congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA339114209	rs_1553120110	2 SubmittersRCV000497578 RCV005869523
NM_206926.2(SELENON):c.1325C>T (p.Ser442Leu)	SNV Germline	Chr1:25813920	Conflicting classifications of pathogenicity	Condition: not provided Eichsfeld type congenital muscular dystrophy not specified	Criteria Provided Conflicting Classifications	CA696878	rs_368377980	7 SubmittersRCV000497945 RCV000811605 RCV002265784
NM_206926.2(SELENON):c.1501-14G>A	SNV Germline	Chr1:25815534	Conflicting classifications of pathogenicity	Condition: not provided Eichsfeld type congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA696955	rs_370300935	2 SubmittersRCV000523179 RCV002060273
NM_206926.2(SELENON):c.563G>A (p.Trp188Ter)	SNV Germline	Chr1:25808707	Pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Single Submitter	CA339112027	rs_1553120047	1 SubmittersRCV000545759
NM_206926.2(SELENON):c.1304G>A (p.Arg435Gln)	SNV Germline	Chr1:25813899	Pathogenic/Likely pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA19699053	rs_779162837	5 SubmittersRCV000551007
NM_206926.2(SELENON):c.2T>G (p.Met1Arg)	SNV Germline	Chr1:25800232	Pathogenic/Likely pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA339105612	rs_1174570887	2 SubmittersRCV000541651
NM_206926.2(SELENON):c.1367G>A (p.Trp456Ter)	SNV Germline	Chr1:25813962	Pathogenic/Likely pathogenic	Eichsfeld type congenital muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA19699056	rs_960468382	3 SubmittersRCV000535222 RCV000591683
NM_206926.2(SELENON):c.781G>A (p.Glu261Lys)	SNV Germline	Chr1:25809693	Conflicting classifications of pathogenicity	Condition: not provided Eichsfeld type congenital muscular dystrophy not specified	Criteria Provided Conflicting Classifications	CA19698565	rs_978886878	5 SubmittersRCV000592718 RCV001867977 RCV004767431
NM_206926.2(SELENON):c.819G>A (p.Trp273Ter)	SNV Germline	Chr1:25809731	Pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Single Submitter	CA339114664	rs_1553120202	1 SubmittersRCV000636857
NM_206926.2(SELENON):c.2T>C (p.Met1Thr)	SNV Germline	Chr1:25800232	Pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Single Submitter	CA339105610	rs_1174570887	1 SubmittersRCV000636853
NM_206926.2(SELENON):c.166C>T (p.Gln56Ter)	SNV Germline	Chr1:25800396	Pathogenic/Likely pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA339106289	rs_1557814050	2 SubmittersRCV000696370
NM_206926.2(SELENON):c.1273C>T (p.Gln425Ter)	SNV Germline	Chr1:25812780	Pathogenic/Likely pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA696841	rs_760063405	2 SubmittersRCV000698272
NM_206926.2(SELENON):c.1303C>T (p.Arg435Trp)	SNV Germline	Chr1:25813898	Pathogenic/Likely pathogenic	Eichsfeld type congenital muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA696874	rs_756927098	4 SubmittersRCV000692095 RCV001584567
NM_206926.2(SELENON):c.1010G>A (p.Gly337Asp)	SNV Germline	Chr1:25811710	Conflicting classifications of pathogenicity	Condition: not provided Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion Eichsfeld type congenital muscular dystrophy See cases	Criteria Provided Conflicting Classifications	CA696769	rs_745886248	7 SubmittersRCV000713178 RCV000791287 RCV001861985 RCV003985417
NM_206926.2(SELENON):c.82G>T (p.Ala28Ser)	SNV Germline	Chr1:25800312	Conflicting classifications of pathogenicity	Eichsfeld type congenital muscular dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA339105992	rs_1286430947	2 SubmittersRCV000806146 RCV005722203
NM_206926.2(SELENON):c.700C>T (p.Arg234Cys)	SNV Germline	Chr1:25809080	Pathogenic/Likely pathogenic	Eichsfeld type congenital muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA696646	rs_368074297	7 SubmittersRCV000814481 RCV001093411
NM_206926.2(SELENON):c.769C>T (p.Arg257Trp)	SNV Germline	Chr1:25809149	Conflicting classifications of pathogenicity	Eichsfeld type congenital muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA696659	rs_757446463	4 SubmittersRCV000819498 RCV004702455
NM_206926.2(SELENON):c.841G>C (p.Gly281Arg)	SNV Germline	Chr1:25809753	Conflicting classifications of pathogenicity	Eichsfeld type congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA339114745	rs_121908188	3 SubmittersRCV000819167
NM_206926.2(SELENON):c.1078G>T (p.Glu360Ter)	SNV Germline	Chr1:25811778	Pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA696789	rs_747284477	3 SubmittersRCV000822846
NM_206926.2(SELENON):c.1277C>T (p.Ser426Phe)	SNV Germline	Chr1:25812784	Conflicting classifications of pathogenicity	Eichsfeld type congenital muscular dystrophy not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA696842	rs_767530943	5 SubmittersRCV000794147 RCV004526024 RCV004696994
NM_206926.2(SELENON):c.771-2A>G	SNV Germline	Chr1:25809681	Conflicting classifications of pathogenicity	Eichsfeld type congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA339114404	rs_1176143542	4 SubmittersRCV000814509
NM_206926.2(SELENON):c.1399-1G>A	SNV Germline	Chr1:25814076	Conflicting classifications of pathogenicity	Eichsfeld type congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA696909	rs_750138587	3 SubmittersRCV000815877
NM_206926.2(SELENON):c.379C>T (p.Arg127Ter)	SNV Germline	Chr1:25805219	Pathogenic/Likely pathogenic	Eichsfeld type congenital muscular dystrophy Congenital myopathy with fiber type disproportion	Criteria Provided Multiple Submitters No Conflicts	CA696513	rs_778603129	5 SubmittersRCV001039378 RCV001732020
NM_206926.2(SELENON):c.*1107T>C	SNV Germline	Chr1:25816825	Pathogenic/Likely pathogenic	Eichsfeld type congenital muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA416760007	rs_2048015293	2 SubmittersRCV001047138 RCV004702600
NM_206926.2(SELENON):c.908+1G>A	SNV Germline	Chr1:25809821	Pathogenic/Likely pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA19698586	rs_908682527	3 SubmittersRCV001039380
NM_206926.2(SELENON):c.855C>T (p.Leu285=)	SNV Germline	Chr1:25809767	Conflicting classifications of pathogenicity	SEPN1-related disorder Eichsfeld type congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA416759189	rs_377537585	2 SubmittersRCV001099053 RCV002067753
NM_206926.2(SELENON):c.436-1G>A	SNV Germline	Chr1:25808579	Likely pathogenic	See cases Eichsfeld type congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA339111336	rs_2047928865	2 SubmittersRCV001197253 RCV001377599
NM_206926.2(SELENON):c.301+926G>A	SNV Germline	Chr1:25802086	Conflicting classifications of pathogenicity	Eichsfeld type congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA19693714	rs_934913626	2 SubmittersRCV001216012
NM_206926.2(SELENON):c.463C>T (p.Arg155Ter)	SNV Germline	Chr1:25808607	Pathogenic/Likely pathogenic	Eichsfeld type congenital muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA696566	rs_775713184	6 SubmittersRCV001224095 RCV003156323
NM_206926.2(SELENON):c.1500+1G>A	SNV Germline	Chr1:25814179	Conflicting classifications of pathogenicity	Eichsfeld type congenital muscular dystrophy	Criteria Provided Conflicting Classifications	CA696927	rs_751927853	2 SubmittersRCV001207653
NM_206926.2(SELENON):c.302-1G>A	SNV Germline	Chr1:25805141	Pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Single Submitter	CA339109752	rs_1005071009	1 SubmittersRCV001237547
NM_206926.2(SELENON):c.770+1G>A	SNV Germline	Chr1:25809151	Likely pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Single Submitter	CA339114319	rs_2047936719	2 SubmittersRCV001251099
NM_206926.2(SELENON):c.1472T>G (p.Met491Arg)	SNV Germline	Chr1:25814150	Conflicting classifications of pathogenicity	Eichsfeld type congenital muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA696923	rs_761631813	5 SubmittersRCV001326195 RCV005861234
NM_206926.2(SELENON):c.1285+1G>A	SNV Germline	Chr1:25812793	Pathogenic/Likely pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA339117893	rs_2047977957	3 SubmittersRCV001329141
NM_206926.2(SELENON):c.436-1G>C	SNV Germline	Chr1:25808579	Likely pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Single Submitter	CA339111339	rs_2047928865	1 SubmittersRCV001379243
NM_206926.2(SELENON):c.909-1G>C	SNV Germline	Chr1:25811453	Likely pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA339116059	rs_1333001112	2 SubmittersRCV001379388
NM_206926.2(SELENON):c.1294C>T (p.Arg432Trp)	SNV Germline	Chr1:25813889	Pathogenic/Likely pathogenic	Eichsfeld type congenital muscular dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA696871	rs_752156505	5 SubmittersRCV001933139 RCV002463070
NM_206926.2(SELENON):c.160G>T (p.Glu54Ter)	SNV Germline	Chr1:25800390	Pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Single Submitter	CA339106260	rs_2047850525	1 SubmittersRCV002002358
NM_206926.2(SELENON):c.301+956G>A	SNV Germline	Chr1:25802116	Conflicting classifications of pathogenicity	Eichsfeld type congenital muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA696479	rs_759256016	2 SubmittersRCV002042970 RCV002464509
NM_206926.2(SELENON):c.470G>A (p.Trp157Ter)	SNV Germline	Chr1:25808614	Pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Single Submitter	CA339111573	rs_2047929645	1 SubmittersRCV001943491
NM_206926.2(SELENON):c.2T>A (p.Met1Lys)	SNV Germline	Chr1:25800232	Pathogenic/Likely pathogenic	Condition: not provided Eichsfeld type congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA339105607	rs_1174570887	2 SubmittersRCV002276349 RCV004596532
NM_206926.2(SELENON):c.715G>A (p.Gly239Arg)	SNV Germline	Chr1:25809095	Pathogenic/Likely pathogenic	Condition: not provided Eichsfeld type congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA339113882	rs_2124448034	5 SubmittersRCV002275929 RCV002290859
NM_206926.2(SELENON):c.1087C>T (p.Gln363Ter)	SNV Germline	Chr1:25811787	Pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Single Submitter	CA339117189	rs_2524994791	1 SubmittersRCV003085918
NM_206926.2(SELENON):c.549G>A (p.Leu183=)	SNV Germline	Chr1:25808693	Conflicting classifications of pathogenicity	Eichsfeld type congenital muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA696591	rs_752169625	2 SubmittersRCV002715843 RCV004584979
NM_206926.2(SELENON):c.1180-1G>T	SNV Germline	Chr1:25812686	Pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Single Submitter	CA339117664	rs_1289523206	1 SubmittersRCV003025615
NM_206926.2(SELENON):c.1120G>T (p.Glu374Ter)	SNV Germline	Chr1:25811820	Pathogenic/Likely pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA339117381	rs_777659233	2 SubmittersRCV003153120
NM_206926.2(SELENON):c.301+855G>C	SNV Germline	Chr1:25802015	Likely pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Single Submitter	CA339107440	rs_2524960860	1 SubmittersRCV003504386
NM_206926.2(SELENON):c.59C>T (p.Pro20Leu)	SNV Germline	Chr1:25800289	Conflicting classifications of pathogenicity	Eichsfeld type congenital muscular dystrophy Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA19693140	rs_1050852336	4 SubmittersRCV003503341 RCV004371432 RCV005250315
NM_206926.2(SELENON):c.1180-13G>A	SNV Germline	Chr1:25812674	Pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Single Submitter	CA696819	rs_770106849	1 SubmittersRCV003883428
NM_020451.3(SELENON):c.1384T>C	SNV Germline	Chr1:25812789	Likely pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005088316
NM_206926.2(SELENON):c.301+2T>C	SNV Germline	Chr1:25801162	Pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005207605
NM_206926.2(SELENON):c.842G>A (p.Gly281Asp)	SNV Germline	Chr1:25809754	Likely pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005431244
NM_206926.2(SELENON):c.1A>T (p.Met1Leu)	SNV Germline	Chr1:25800231	Pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV006532041
NM_206926.2(SELENON):c.1257G>A (p.Trp419Ter)	SNV Germline	Chr1:25812764	Pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV006567738
NM_206926.2(SELENON):c.305C>G (p.Ser102Ter)	SNV Germline	Chr1:25805145	Pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV006572818
NM_206926.2(SELENON):c.1180-2A>C	SNV Germline	Chr1:25812685	Likely pathogenic	Eichsfeld type congenital muscular dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV006696088

NM_206926.2(SELENON):c.716G>A (p.Gly239Glu)

SNV
Germline

Chr1:25809096

Pathogenic

Eichsfeld type congenital muscular dystrophy

No Assertion Criteria Provided

CA253166

rs_121908182

1 SubmittersRCV000004746

NM_020451.2(SELENON):c.1385G>A (p.Sec462=)

SNV
Germline

Chr1:25812790

Pathogenic

Eichsfeld type congenital muscular dystrophy

No Assertion Criteria Provided

CA253167

rs_587776597

1 SubmittersRCV000004747

NM_206926.2(SELENON):c.1A>G (p.Met1Val)

SNV
Germline

Chr1:25800231

Pathogenic/Likely pathogenic

Eichsfeld type congenital muscular dystrophy
Condition: not provided
Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy
Congenital myopathy with fiber type disproportion

Criteria Provided
Multiple Submitters
No Conflicts

CA253168

rs_121908184

8 SubmittersRCV000004748 RCV000482307 RCV002288464 RCV002504747

NM_206926.2(SELENON):c.1295G>A (p.Arg432Gln)

SNV
Germline

Chr1:25813890

Pathogenic/Likely pathogenic

Eichsfeld type congenital muscular dystrophy
Condition: not provided
SEPN1-related disorder
Muscular dystrophy
Cleft lip/palate
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA253170

rs_121908185

16 SubmittersRCV000004749 RCV000413832 RCV000778977 RCV001195543 RCV005624672 RCV006362013

NM_206926.2(SELENON):c.1256G>C (p.Trp419Ser)

SNV
Germline

Chr1:25812763

Likely pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Single Submitter

CA253171

rs_121908186

2 SubmittersRCV000004750

NM_020451.3(SELENON):c.1384T>G

SNV
Germline

Chr1:25812789

Pathogenic

Eichsfeld type congenital muscular dystrophy

No Assertion Criteria Provided

CA253173

rs_121908187

1 SubmittersRCV000004752

NM_206926.2(SELENON):c.841G>A (p.Gly281Ser)

SNV
Germline

Chr1:25809753

Pathogenic/Likely pathogenic

Eichsfeld type congenital muscular dystrophy
Congenital myopathy with fiber type disproportion
Condition: not provided
Eichsfeld type congenital muscular dystrophy
Congenital myopathy with fiber type disproportion
SEPN1-related disorder
Eichsfeld type congenital muscular dystrophy
Congenital myopathy 4A, autosomal dominant
SELENON-related myopathy
Malignant tumor of esophagus
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA223589

rs_121908188

29 SubmittersRCV000004753 RCV000004754 RCV000082020 RCV000681664 RCV000778235 RCV003224794 RCV003993737 RCV005887294 RCV006362014

NM_206926.2(SELENON):c.103G>C (p.Gly35Arg)

SNV
Germline

Chr1:25800333

Conflicting classifications of pathogenicity

Eichsfeld type congenital muscular dystrophy
Condition: not provided
SEPN1-related disorder
Congenital myopathy with fiber type disproportion
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA223578

rs_398124359

10 SubmittersRCV000558595 RCV000723675 RCV001097299 RCV001329140 RCV003162515 RCV003398680

NM_206926.2(SELENON):c.1213C>T (p.Arg405Ter)

SNV
Germline

Chr1:25812720

Pathogenic

Condition: not provided
Eichsfeld type congenital muscular dystrophy
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA223582

rs_377215510

12 SubmittersRCV000082011 RCV000792332 RCV001197254

NM_206926.2(SELENON):c.1494C>T (p.Gly498=)

SNV
Germline

Chr1:25814172

Conflicting classifications of pathogenicity

Condition: not provided
Eichsfeld type congenital muscular dystrophy
SELENON-related disorder

Criteria Provided
Conflicting Classifications

CA223584

rs_149623434

5 SubmittersRCV000723580 RCV001088210 RCV003945025

NM_206926.2(SELENON):c.1552G>A (p.Glu518Lys)

SNV
Germline

Chr1:25815599

Conflicting classifications of pathogenicity

Eichsfeld type congenital muscular dystrophy
Condition: not provided
SEPN1-related disorder
Congenital myopathy with fiber type disproportion
not specified

Criteria Provided
Conflicting Classifications

CA223586

rs_200128474

10 SubmittersRCV000542565 RCV000723596 RCV001097379 RCV001329142 RCV003398681

NM_206926.2(SELENON):c.1326G>A (p.Ser442=)

SNV
Germline

Chr1:25813921

Conflicting classifications of pathogenicity

Condition: not provided
Eichsfeld type congenital muscular dystrophy
SEPN1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA239647

rs_41284305

6 SubmittersRCV000724226 RCV001086102 RCV001101132 RCV005434671

NM_206926.2(SELENON):c.770+2T>C

SNV
Germline

Chr1:25809152

Pathogenic/Likely pathogenic

Condition: not provided
Eichsfeld type congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA275352

rs_794727808

2 SubmittersRCV000179510 RCV002516794

NM_206926.2(SELENON):c.994G>T (p.Glu332Ter)

SNV
Germline

Chr1:25811694

Pathogenic/Likely pathogenic

Condition: not provided
Eichsfeld type congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA275449

rs_794727976

2 SubmittersRCV000180670 RCV002516827

NM_206926.2(SELENON):c.313G>A (p.Ala105Thr)

SNV
Germline

Chr1:25805153

Conflicting classifications of pathogenicity

not specified
Eichsfeld type congenital muscular dystrophy
Condition: not provided
SEPN1-related disorder
Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA207149

rs_201692549

10 SubmittersRCV000193575 RCV000543024 RCV000725931 RCV001097302 RCV002492881

NM_206926.2(SELENON):c.81C>T (p.Arg27=)

SNV
Germline

Chr1:25800311

Conflicting classifications of pathogenicity

not specified
Eichsfeld type congenital muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10586734

rs_886038660

4 SubmittersRCV000242137 RCV000873512 RCV001753727

NM_206926.2(SELENON):c.363G>A (p.Thr121=)

SNV
Germline

Chr1:25805203

Conflicting classifications of pathogenicity

not specified
Eichsfeld type congenital muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA696511

rs_753774853

4 SubmittersRCV000253793 RCV000547825 RCV000584991

NM_206926.2(SELENON):c.627G>A (p.Pro209=)

SNV
Germline

Chr1:25808771

Conflicting classifications of pathogenicity

not specified
SEPN1-related disorder
Condition: not provided
Eichsfeld type congenital muscular dystrophy
SELENON-related disorder

Criteria Provided
Conflicting Classifications

CA696606

rs_139020143

8 SubmittersRCV000250797 RCV000292421 RCV000725590 RCV001081584 RCV003891962

NM_206926.2(SELENON):c.630G>A (p.Pro210=)

SNV
Germline

Chr1:25808774

Conflicting classifications of pathogenicity

not specified
Eichsfeld type congenital muscular dystrophy
SEPN1-related disorder

Criteria Provided
Conflicting Classifications

CA696609

rs_200765195

3 SubmittersRCV000242126 RCV000951535 RCV001099052

NM_206926.2(SELENON):c.1500+14C>T

SNV
Germline

Chr1:25814192

Conflicting classifications of pathogenicity

not specified
SEPN1-related disorder
Eichsfeld type congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA696930

rs_41284307

4 SubmittersRCV000247113 RCV000260150 RCV002058293

NM_206926.2(SELENON):c.1608G>A (p.Thr536=)

SNV
Germline

Chr1:25815655

Conflicting classifications of pathogenicity

not specified
Eichsfeld type congenital muscular dystrophy
SEPN1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA696972

rs_371398538

4 SubmittersRCV000243251 RCV000893098 RCV001097380 RCV001557483

NM_206926.2(SELENON):c.770G>A (p.Arg257Gln)

SNV
Germline

Chr1:25809150

Pathogenic/Likely pathogenic

Condition: not provided
Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy
Congenital myopathy with fiber type disproportion
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA696660

rs_199564797

9 SubmittersRCV000358099 RCV000800896 RCV000791286 RCV003985311

NM_206926.2(SELENON):c.1613C>A (p.Thr538Asn)

SNV
Germline

Chr1:25815660

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Eichsfeld type congenital muscular dystrophy
Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy
SELENON-related disorder

Criteria Provided
Conflicting Classifications

CA696975

rs_183272965

7 SubmittersRCV000340120 RCV000723478 RCV000765103 RCV001083468 RCV003920033

NM_206926.2(SELENON):c.7C>A (p.Arg3=)

SNV
Germline

Chr1:25800237

Conflicting classifications of pathogenicity

Condition: not provided
Eichsfeld type congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10606958

rs_866566089

2 SubmittersRCV000259857 RCV001086966

NM_206926.2(SELENON):c.448G>C (p.Ala150Pro)

SNV
Germline

Chr1:25808592

Conflicting classifications of pathogenicity

SEPN1-related disorder
Eichsfeld type congenital muscular dystrophy
Condition: not provided
SELENON-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA696560

rs_199742668

8 SubmittersRCV000351042 RCV000544404 RCV000494289 RCV003949991 RCV006362238

NM_206926.2(SELENON):c.1008G>A (p.Thr336=)

SNV
Germline

Chr1:25811708

Conflicting classifications of pathogenicity

SEPN1-related disorder
Eichsfeld type congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA696767

rs_779080942

2 SubmittersRCV000406505 RCV000873164

NM_206926.2(SELENON):c.1602G>A (p.Pro534=)

SNV
Germline

Chr1:25815649

Conflicting classifications of pathogenicity

SEPN1-related disorder
not specified
Eichsfeld type congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA696969

rs_754350384

3 SubmittersRCV000277904 RCV000615602 RCV001469690

NM_206926.2(SELENON):c.1521C>T (p.Asn507=)

SNV
Germline

Chr1:25815568

Conflicting classifications of pathogenicity

SEPN1-related disorder
Eichsfeld type congenital muscular dystrophy
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA696960

rs_199911454

5 SubmittersRCV000317644 RCV000636858 RCV000422681 RCV006445683

NM_206926.2(SELENON):c.776A>G (p.His259Arg)

SNV
Germline

Chr1:25809688

Pathogenic/Likely pathogenic

SEPN1-related disorder
Eichsfeld type congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA696675

rs_776738184

5 SubmittersRCV000349806 RCV002520484

NM_206926.2(SELENON):c.1536C>T (p.Ile512=)

SNV
Germline

Chr1:25815583

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Eichsfeld type congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA696963

rs_201066183

3 SubmittersRCV000439056 RCV000636860 RCV001084680

NM_206926.2(SELENON):c.1398+7G>A

SNV
Germline

Chr1:25814000

Conflicting classifications of pathogenicity

Eichsfeld type congenital muscular dystrophy
SEPN1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA696889

rs_200724231

3 SubmittersRCV000876107 RCV001101133 RCV001704392

NM_206926.2(SELENON):c.753C>G (p.Tyr251Ter)

SNV
Germline

Chr1:25809133

Pathogenic/Likely pathogenic

Condition: not provided
Eichsfeld type congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA339114209

rs_1553120110

2 SubmittersRCV000497578 RCV005869523

NM_206926.2(SELENON):c.1325C>T (p.Ser442Leu)

SNV
Germline

Chr1:25813920

Conflicting classifications of pathogenicity

Condition: not provided
Eichsfeld type congenital muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA696878

rs_368377980

7 SubmittersRCV000497945 RCV000811605 RCV002265784

NM_206926.2(SELENON):c.1501-14G>A

SNV
Germline

Chr1:25815534

Conflicting classifications of pathogenicity

Condition: not provided
Eichsfeld type congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA696955

rs_370300935

2 SubmittersRCV000523179 RCV002060273

NM_206926.2(SELENON):c.563G>A (p.Trp188Ter)

SNV
Germline

Chr1:25808707

Pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Single Submitter

CA339112027

rs_1553120047

1 SubmittersRCV000545759

NM_206926.2(SELENON):c.1304G>A (p.Arg435Gln)

SNV
Germline

Chr1:25813899

Pathogenic/Likely pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA19699053

rs_779162837

5 SubmittersRCV000551007

NM_206926.2(SELENON):c.2T>G (p.Met1Arg)

SNV
Germline

Chr1:25800232

Pathogenic/Likely pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA339105612

rs_1174570887

2 SubmittersRCV000541651

NM_206926.2(SELENON):c.1367G>A (p.Trp456Ter)

SNV
Germline

Chr1:25813962

Pathogenic/Likely pathogenic

Eichsfeld type congenital muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA19699056

rs_960468382

3 SubmittersRCV000535222 RCV000591683

NM_206926.2(SELENON):c.781G>A (p.Glu261Lys)

SNV
Germline

Chr1:25809693

Conflicting classifications of pathogenicity

Condition: not provided
Eichsfeld type congenital muscular dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA19698565

rs_978886878

5 SubmittersRCV000592718 RCV001867977 RCV004767431

NM_206926.2(SELENON):c.819G>A (p.Trp273Ter)

SNV
Germline

Chr1:25809731

Pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Single Submitter

CA339114664

rs_1553120202

1 SubmittersRCV000636857

NM_206926.2(SELENON):c.2T>C (p.Met1Thr)

SNV
Germline

Chr1:25800232

Pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Single Submitter

CA339105610

rs_1174570887

1 SubmittersRCV000636853

NM_206926.2(SELENON):c.166C>T (p.Gln56Ter)

SNV
Germline

Chr1:25800396

Pathogenic/Likely pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA339106289

rs_1557814050

2 SubmittersRCV000696370

NM_206926.2(SELENON):c.1273C>T (p.Gln425Ter)

SNV
Germline

Chr1:25812780

Pathogenic/Likely pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA696841

rs_760063405

2 SubmittersRCV000698272

NM_206926.2(SELENON):c.1303C>T (p.Arg435Trp)

SNV
Germline

Chr1:25813898

Pathogenic/Likely pathogenic

Eichsfeld type congenital muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA696874

rs_756927098

4 SubmittersRCV000692095 RCV001584567

NM_206926.2(SELENON):c.1010G>A (p.Gly337Asp)

SNV
Germline

Chr1:25811710

Conflicting classifications of pathogenicity

Condition: not provided
Eichsfeld type congenital muscular dystrophy
Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy
See cases

Criteria Provided
Conflicting Classifications

CA696769

rs_745886248

7 SubmittersRCV000713178 RCV000791287 RCV001861985 RCV003985417

NM_206926.2(SELENON):c.82G>T (p.Ala28Ser)

SNV
Germline

Chr1:25800312

Conflicting classifications of pathogenicity

Eichsfeld type congenital muscular dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA339105992

rs_1286430947

2 SubmittersRCV000806146 RCV005722203

NM_206926.2(SELENON):c.700C>T (p.Arg234Cys)

SNV
Germline

Chr1:25809080

Pathogenic/Likely pathogenic

Eichsfeld type congenital muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA696646

rs_368074297

7 SubmittersRCV000814481 RCV001093411

NM_206926.2(SELENON):c.769C>T (p.Arg257Trp)

SNV
Germline

Chr1:25809149

Conflicting classifications of pathogenicity

Eichsfeld type congenital muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA696659

rs_757446463

4 SubmittersRCV000819498 RCV004702455

NM_206926.2(SELENON):c.841G>C (p.Gly281Arg)

SNV
Germline

Chr1:25809753

Conflicting classifications of pathogenicity

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA339114745

rs_121908188

3 SubmittersRCV000819167

NM_206926.2(SELENON):c.1078G>T (p.Glu360Ter)

SNV
Germline

Chr1:25811778

Pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA696789

rs_747284477

3 SubmittersRCV000822846

NM_206926.2(SELENON):c.1277C>T (p.Ser426Phe)

SNV
Germline

Chr1:25812784

Conflicting classifications of pathogenicity

Eichsfeld type congenital muscular dystrophy
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA696842

rs_767530943

5 SubmittersRCV000794147 RCV004526024 RCV004696994

NM_206926.2(SELENON):c.771-2A>G

SNV
Germline

Chr1:25809681

Conflicting classifications of pathogenicity

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA339114404

rs_1176143542

4 SubmittersRCV000814509

NM_206926.2(SELENON):c.1399-1G>A

SNV
Germline

Chr1:25814076

Conflicting classifications of pathogenicity

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA696909

rs_750138587

3 SubmittersRCV000815877

NM_206926.2(SELENON):c.379C>T (p.Arg127Ter)

SNV
Germline

Chr1:25805219

Pathogenic/Likely pathogenic

Eichsfeld type congenital muscular dystrophy
Congenital myopathy with fiber type disproportion

Criteria Provided
Multiple Submitters
No Conflicts

CA696513

rs_778603129

5 SubmittersRCV001039378 RCV001732020

NM_206926.2(SELENON):c.*1107T>C

SNV
Germline

Chr1:25816825

Pathogenic/Likely pathogenic

Eichsfeld type congenital muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA416760007

rs_2048015293

2 SubmittersRCV001047138 RCV004702600

NM_206926.2(SELENON):c.908+1G>A

SNV
Germline

Chr1:25809821

Pathogenic/Likely pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA19698586

rs_908682527

3 SubmittersRCV001039380

NM_206926.2(SELENON):c.855C>T (p.Leu285=)

SNV
Germline

Chr1:25809767

Conflicting classifications of pathogenicity

SEPN1-related disorder
Eichsfeld type congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA416759189

rs_377537585

2 SubmittersRCV001099053 RCV002067753

NM_206926.2(SELENON):c.436-1G>A

SNV
Germline

Chr1:25808579

Likely pathogenic

See cases
Eichsfeld type congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA339111336

rs_2047928865

2 SubmittersRCV001197253 RCV001377599

NM_206926.2(SELENON):c.301+926G>A

SNV
Germline

Chr1:25802086

Conflicting classifications of pathogenicity

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA19693714

rs_934913626

2 SubmittersRCV001216012

NM_206926.2(SELENON):c.463C>T (p.Arg155Ter)

SNV
Germline

Chr1:25808607

Pathogenic/Likely pathogenic

Eichsfeld type congenital muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA696566

rs_775713184

6 SubmittersRCV001224095 RCV003156323

NM_206926.2(SELENON):c.1500+1G>A

SNV
Germline

Chr1:25814179

Conflicting classifications of pathogenicity

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA696927

rs_751927853

2 SubmittersRCV001207653

NM_206926.2(SELENON):c.302-1G>A

SNV
Germline

Chr1:25805141

Pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Single Submitter

CA339109752

rs_1005071009

1 SubmittersRCV001237547

NM_206926.2(SELENON):c.770+1G>A

SNV
Germline

Chr1:25809151

Likely pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Single Submitter

CA339114319

rs_2047936719

2 SubmittersRCV001251099

NM_206926.2(SELENON):c.1472T>G (p.Met491Arg)

SNV
Germline

Chr1:25814150

Conflicting classifications of pathogenicity

Eichsfeld type congenital muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA696923

rs_761631813

5 SubmittersRCV001326195 RCV005861234

NM_206926.2(SELENON):c.1285+1G>A

SNV
Germline

Chr1:25812793

Pathogenic/Likely pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA339117893

rs_2047977957

3 SubmittersRCV001329141

NM_206926.2(SELENON):c.436-1G>C

SNV
Germline

Chr1:25808579

Likely pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Single Submitter

CA339111339

rs_2047928865

1 SubmittersRCV001379243

NM_206926.2(SELENON):c.909-1G>C

SNV
Germline

Chr1:25811453

Likely pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA339116059

rs_1333001112

2 SubmittersRCV001379388

NM_206926.2(SELENON):c.1294C>T (p.Arg432Trp)

SNV
Germline

Chr1:25813889

Pathogenic/Likely pathogenic

Eichsfeld type congenital muscular dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA696871

rs_752156505

5 SubmittersRCV001933139 RCV002463070

NM_206926.2(SELENON):c.160G>T (p.Glu54Ter)

SNV
Germline

Chr1:25800390

Pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Single Submitter

CA339106260

rs_2047850525

1 SubmittersRCV002002358

NM_206926.2(SELENON):c.301+956G>A

SNV
Germline

Chr1:25802116

Conflicting classifications of pathogenicity

Eichsfeld type congenital muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA696479

rs_759256016

2 SubmittersRCV002042970 RCV002464509

NM_206926.2(SELENON):c.470G>A (p.Trp157Ter)

SNV
Germline

Chr1:25808614

Pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Single Submitter

CA339111573

rs_2047929645

1 SubmittersRCV001943491

NM_206926.2(SELENON):c.2T>A (p.Met1Lys)

SNV
Germline

Chr1:25800232

Pathogenic/Likely pathogenic

Condition: not provided
Eichsfeld type congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA339105607

rs_1174570887

2 SubmittersRCV002276349 RCV004596532

NM_206926.2(SELENON):c.715G>A (p.Gly239Arg)

SNV
Germline

Chr1:25809095

Pathogenic/Likely pathogenic

Condition: not provided
Eichsfeld type congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA339113882

rs_2124448034

5 SubmittersRCV002275929 RCV002290859

NM_206926.2(SELENON):c.1087C>T (p.Gln363Ter)

SNV
Germline

Chr1:25811787

Pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Single Submitter

CA339117189

rs_2524994791

1 SubmittersRCV003085918

NM_206926.2(SELENON):c.549G>A (p.Leu183=)

SNV
Germline

Chr1:25808693

Conflicting classifications of pathogenicity

Eichsfeld type congenital muscular dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA696591

rs_752169625

2 SubmittersRCV002715843 RCV004584979

NM_206926.2(SELENON):c.1180-1G>T

SNV
Germline

Chr1:25812686

Pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Single Submitter

CA339117664

rs_1289523206

1 SubmittersRCV003025615

NM_206926.2(SELENON):c.1120G>T (p.Glu374Ter)

SNV
Germline

Chr1:25811820

Pathogenic/Likely pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA339117381

rs_777659233

2 SubmittersRCV003153120

NM_206926.2(SELENON):c.301+855G>C

SNV
Germline

Chr1:25802015

Likely pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Single Submitter

CA339107440

rs_2524960860

1 SubmittersRCV003504386

NM_206926.2(SELENON):c.59C>T (p.Pro20Leu)

SNV
Germline

Chr1:25800289

Conflicting classifications of pathogenicity

Eichsfeld type congenital muscular dystrophy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA19693140

rs_1050852336

4 SubmittersRCV003503341 RCV004371432 RCV005250315

NM_206926.2(SELENON):c.1180-13G>A

SNV
Germline

Chr1:25812674

Pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Single Submitter

CA696819

rs_770106849

1 SubmittersRCV003883428

NM_020451.3(SELENON):c.1384T>C

SNV
Germline

Chr1:25812789

Likely pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005088316

NM_206926.2(SELENON):c.301+2T>C

SNV
Germline

Chr1:25801162

Pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005207605

NM_206926.2(SELENON):c.842G>A (p.Gly281Asp)

SNV
Germline

Chr1:25809754

Likely pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005431244

NM_206926.2(SELENON):c.1A>T (p.Met1Leu)

SNV
Germline

Chr1:25800231

Pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV006532041

NM_206926.2(SELENON):c.1257G>A (p.Trp419Ter)

SNV
Germline

Chr1:25812764

Pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV006567738

NM_206926.2(SELENON):c.305C>G (p.Ser102Ter)

SNV
Germline

Chr1:25805145

Pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV006572818

NM_206926.2(SELENON):c.1180-2A>C

SNV
Germline

Chr1:25812685

Likely pathogenic

Eichsfeld type congenital muscular dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV006696088