Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_004369.4(COL6A3):c.5036G>A (p.Gly1679Glu)	SNV Germline	Chr2:237367151	Pathogenic/Likely pathogenic	Bethlem myopathy 1A Condition: not provided Bethlem myopathy 1C	Criteria Provided Multiple Submitters No Conflicts	CA239569	rs_121434553	3 SubmittersRCV000018689 RCV000790696 RCV003764588
NM_004369.4(COL6A3):c.6930+5G>A	SNV Germline	Chr2:237348608	Pathogenic	Ullrich congenital muscular dystrophy 1A Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1C	Criteria Provided Multiple Submitters No Conflicts		rs_749037028	3 SubmittersRCV000018690 RCV003517127 RCV003764589
NM_004369.4(COL6A3):c.1393C>T (p.Arg465Ter)	SNV Germline	Chr2:237381419	Pathogenic	Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1C	Criteria Provided Single Submitter	CA257715	rs_121434554	2 SubmittersRCV002247356 RCV003764590
NM_004369.4(COL6A3):c.5177T>G (p.Leu1726Arg)	SNV Germline	Chr2:237367010	Pathogenic	Bethlem myopathy 1C	No Assertion Criteria Provided	CA257718	rs_121434555	1 SubmittersRCV003764592
NM_001849.4(COL6A2):c.811G>A (p.Gly271Ser)	SNV Germline	Chr21:46115881	Pathogenic	Bethlem myopathy 1A Condition: not provided Bethlem myopathy 1B	Criteria Provided Multiple Submitters No Conflicts	CA257720	rs_121912940	3 SubmittersRCV000018695 RCV001781280 RCV003764593
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn)	SNV Germline	Chr21:46125509	Pathogenic/Likely pathogenic	Bethlem myopathy 1A Condition: not provided Bethlem myopathy 1B	Criteria Provided Multiple Submitters No Conflicts	CA257724	rs_267606750	5 SubmittersRCV000018699 RCV000725485 RCV004574029
NM_001849.4(COL6A2):c.1000-2A>G	SNV Germline	Chr21:46117398	Pathogenic	Bethlem myopathy 1A Bethlem myopathy 1B	Criteria Provided Single Submitter		rs_1555873356	2 SubmittersRCV000018703 RCV003764599
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)	SNV Germline	Chr21:46132287	Conflicting classifications of pathogenicity	Bethlem myopathy 1A not specified Collagen 6-related myopathy Myosclerosis Condition: not provided Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A Bethlem myopathy 1B COL6A2-related disorder	Criteria Provided Conflicting Classifications	CA242938	rs_117725825	12 SubmittersRCV000018704 RCV000149938 RCV000359356 RCV000302217 RCV000859498 RCV000993564 RCV003764600 RCV004532388
NM_001849.4(COL6A2):c.2455C>T (p.Gln819Ter)	SNV Germline	Chr21:46126535	Pathogenic	Myosclerosis Condition: not provided Bethlem myopathy 1A BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE	Criteria Provided Single Submitter	CA127109	rs_121912942	3 SubmittersRCV000018705 RCV000480797 RCV001327989 RCV003764601
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)	SNV Germline	Chr21:46126144	Pathogenic/Likely pathogenic	Bethlem myopathy 1A Condition: not provided Ullrich congenital muscular dystrophy 1B	Criteria Provided Multiple Submitters No Conflicts	CA257728	rs_267606747	5 SubmittersRCV000529271 RCV001091900 RCV003764602
NM_001849.4(COL6A2):c.847G>A (p.Gly283Arg)	SNV Germline	Chr21:46115917	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1B	Criteria Provided Conflicting Classifications	CA127112	rs_267606748	3 SubmittersRCV000269898 RCV000816890 RCV003764603
NM_001849.4(COL6A2):c.1493G>A (p.Arg498His)	SNV Germline	Chr21:46121590	Conflicting classifications of pathogenicity	Bethlem myopathy 1A Condition: not provided Myosclerosis Collagen 6-related myopathy Ullrich congenital muscular dystrophy 1B	Criteria Provided Conflicting Classifications	CA257730	rs_267606749	5 SubmittersRCV000653500 RCV000710888 RCV001138981 RCV001138980 RCV003764604
NM_001848.3(COL6A1):c.1577G>T (p.Gly526Val)	SNV Germline	Chr21:45998399	Pathogenic	Bethlem myopathy 1A	No Assertion Criteria Provided	CA257732	rs_121912934	1 SubmittersRCV000018709
NM_001848.3(COL6A1):c.931-1G>A	SNV Germline	Chr21:45990257	Pathogenic	Bethlem myopathy 1A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10604117	rs_886042354	3 SubmittersRCV000018710 RCV000725055
NM_001848.3(COL6A1):c.1056+2T>C	SNV Germline	Chr21:45990828	Pathogenic	Bethlem myopathy 1A	No Assertion Criteria Provided	CA257735	rs_797044456	1 SubmittersRCV000018711
NM_001848.3(COL6A1):c.1022G>A (p.Gly341Asp)	SNV Germline	Chr21:45990792	Pathogenic	Bethlem myopathy 1A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA257736	rs_121912935	3 SubmittersRCV000018712 RCV002274883
NM_001848.3(COL6A1):c.362A>G (p.Lys121Arg)	SNV Germline	Chr21:45984403	Pathogenic	Bethlem myopathy 1A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA221786	rs_121912936	4 SubmittersRCV000018713 RCV000177135
NM_001848.3(COL6A1):c.1056+1G>A	SNV Germline	Chr21:45990827	Pathogenic/Likely pathogenic	Bethlem myopathy 1A Condition: not provided Sensorimotor neuropathy Abnormality of the musculature	Criteria Provided Multiple Submitters No Conflicts	CA221748	rs_398123631	14 SubmittersRCV000018714 RCV000079739 RCV000626814 RCV001813996
NM_001848.3(COL6A1):c.428+1G>A	SNV Germline	Chr21:45984470	Pathogenic	Bethlem myopathy 1A	Criteria Provided Single Submitter		rs_1569517717	2 SubmittersRCV000018716
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg)	SNV Germline	Chr21:45989129	Pathogenic	Condition: not provided Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A Collagen 6-related myopathy ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A, AUTOSOMAL DOMINANT	Criteria Provided Multiple Submitters No Conflicts	CA127115	rs_121912938	14 SubmittersRCV000079828 RCV000180573 RCV000180574 RCV003314554 RCV003764606
NM_001848.3(COL6A1):c.868G>C (p.Gly290Arg)	SNV Germline	Chr21:45989617	Pathogenic	Bethlem myopathy 1A ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A, AUTOSOMAL DOMINANT	Criteria Provided Single Submitter	CA127117	rs_121912939	2 SubmittersRCV001851922 RCV003764607
NM_001848.3(COL6A1):c.841G>A (p.Gly281Arg)	SNV Germline	Chr21:45989120	Pathogenic	Ullrich congenital muscular dystrophy 1A Condition: not provided Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA257743	rs_267606746	3 SubmittersRCV000018722 RCV000497629 RCV001216604
NM_001849.4(COL6A2):c.2489G>A (p.Arg830Gln)	SNV Germline	Chr21:46131981	Conflicting classifications of pathogenicity	Myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA206462	rs_139552940	4 SubmittersRCV000193161 RCV000387708 RCV001208362
NM_001849.4(COL6A2):c.1096C>T (p.Arg366Ter)	SNV Germline	Chr21:46117916	Pathogenic	Condition: not provided Bethlem myopathy 1A BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE	Criteria Provided Multiple Submitters No Conflicts	CA128530	rs_387906609	6 SubmittersRCV000254747 RCV000796659 RCV003764621
NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn)	SNV Germline	Chr21:46132103	Pathogenic/Likely pathogenic	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE	Criteria Provided Multiple Submitters No Conflicts	CA128533	rs_387906610	6 SubmittersRCV000591047 RCV000778644 RCV001054018 RCV003764622
NM_001848.3(COL6A1):c.350T>C (p.Val117Ala)	SNV Germline	Chr21:45984391	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA215981	rs_138899581	7 SubmittersRCV000050243 RCV000360603 RCV000723507 RCV001083967
NM_004369.4(COL6A3):c.6193G>A (p.Gly2065Ser)	SNV Germline	Chr2:237361138	Likely pathogenic	Condition: not provided Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA215987	rs_397515332	4 SubmittersRCV000050245 RCV001853072
NM_001848.3(COL6A1):c.1398+10G>A	SNV Germline	Chr21:45994239	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA221752	rs_143438559	4 SubmittersRCV000079749 RCV000301977 RCV000723544 RCV001080919
NM_001848.3(COL6A1):c.1505C>T (p.Pro502Leu)	SNV Germline	Chr21:45997743	Conflicting classifications of pathogenicity	Condition: not provided Ullrich congenital muscular dystrophy 1A Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA221753	rs_398123632	3 SubmittersRCV000079755 RCV001197518 RCV003631088
NM_001848.3(COL6A1):c.1665C>T (p.Pro555=)	SNV Germline	Chr21:45998950	Conflicting classifications of pathogenicity	not specified Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA221756	rs_369802454	5 SubmittersRCV000079762 RCV000723482 RCV001142784 RCV001089392
NM_001848.3(COL6A1):c.1823-9C>T	SNV Germline	Chr21:46001244	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA221760	rs_398123633	2 SubmittersRCV000079775 RCV002055135
NM_001848.3(COL6A1):c.1931G>A (p.Arg644Gln)	SNV Germline	Chr21:46001361	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA221761	rs_398123634	3 SubmittersRCV000079777 RCV001065719
NM_001848.3(COL6A1):c.2091G>A (p.Met697Ile)	SNV Germline	Chr21:46002242	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A not specified	Criteria Provided Conflicting Classifications	CA221764	rs_372750707	5 SubmittersRCV000079784 RCV001442122 RCV001731367
NM_001848.3(COL6A1):c.2191C>T (p.Arg731Cys)	SNV Germline	Chr21:46002342	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA221767	rs_398123635	3 SubmittersRCV000079786 RCV000383575 RCV000794035
NM_001848.3(COL6A1):c.2304G>C (p.Gln768His)	SNV Germline	Chr21:46002580	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA221770	rs_376567898	5 SubmittersRCV000079788 RCV001142888 RCV001086476
NM_001848.3(COL6A1):c.2614C>T (p.Arg872Trp)	SNV Germline	Chr21:46003540	Conflicting classifications of pathogenicity	Bethlem myopathy 1A Condition: not provided Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A	Criteria Provided Conflicting Classifications	CA221777	rs_368561027	5 SubmittersRCV000653571 RCV000723506 RCV000764265
NM_001848.3(COL6A1):c.2642C>T (p.Thr881Met)	SNV Germline	Chr21:46003568	Conflicting classifications of pathogenicity	Bethlem myopathy 1A Condition: not provided not specified Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA221780	rs_150432347	6 SubmittersRCV000531637 RCV000997844 RCV000252293 RCV000271407
NM_001848.3(COL6A1):c.588+8C>G	SNV Germline	Chr21:45986693	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA221792	rs_398123638	4 SubmittersRCV000079820 RCV000373411 RCV000723505 RCV001088597
NM_001848.3(COL6A1):c.738+14C>T	SNV Germline	Chr21:45987189	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A not specified	Criteria Provided Conflicting Classifications	CA221793	rs_374896651	3 SubmittersRCV000079823 RCV002055141 RCV003235035
NM_001848.3(COL6A1):c.805-2A>G	SNV Germline	Chr21:45989082	Pathogenic	Condition: not provided Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA221794	rs_398123639	2 SubmittersRCV000180576 RCV001380839
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg)	SNV Germline	Chr21:45989617	Pathogenic	Condition: not provided Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A Abnormality of the musculature Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA221800	rs_121912939	12 SubmittersRCV000079833 RCV000173748 RCV001251002 RCV001814048 RCV001266306
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)	SNV Germline	Chr21:45989626	Pathogenic/Likely pathogenic	Bethlem myopathy 1A Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A	Criteria Provided Multiple Submitters No Conflicts	CA221801	rs_398123643	12 SubmittersRCV000173744 RCV000173743 RCV001813755 RCV002483138
NM_001848.3(COL6A1):c.896G>A (p.Gly299Glu)	SNV Germline	Chr21:45989645	Pathogenic/Likely pathogenic	Condition: not provided Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA221804	rs_398123644	3 SubmittersRCV000173745 RCV001854408
NM_001849.4(COL6A2):c.1769C>T (p.Thr590Met)	SNV Germline	Chr21:46124919	Conflicting classifications of pathogenicity	Myosclerosis Collagen 6-related myopathy not specified Condition: not provided Bethlem myopathy 1A COL6A2-related disorder	Criteria Provided Conflicting Classifications	CA147444	rs_142709940	6 SubmittersRCV000276065 RCV000370549 RCV000079859 RCV000658928 RCV001086666 RCV004537332
NM_001849.4(COL6A2):c.1970-3C>A	SNV Germline	Chr21:46125782	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Myosclerosis Condition: not provided Ullrich congenital muscular dystrophy 1A Bethlem myopathy 1A Bethlem myopathy 1A Tip-toe gait	Criteria Provided Conflicting Classifications	CA221815	rs_201879417	7 SubmittersRCV000300588 RCV000259240 RCV000415855 RCV000709829 RCV001084118 RCV003319318
NM_001849.4(COL6A2):c.2484G>A (p.Thr828=)	SNV Germline	Chr21:46131976	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA221825	rs_147199350	2 SubmittersRCV000079880 RCV001086738
NM_001849.4(COL6A2):c.2580G>A (p.Ala860=)	SNV Germline	Chr21:46132072	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA221828	rs_146420786	3 SubmittersRCV000079881 RCV001084761
NM_001849.4(COL6A2):c.2761G>A (p.Val921Met)	SNV Germline	Chr21:46132253	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA221834	rs_398123650	5 SubmittersRCV000079885 RCV000796644 RCV002514404
NM_001849.4(COL6A2):c.759A>G (p.Glu253=)	SNV Germline	Chr21:46114031	Conflicting classifications of pathogenicity	Myosclerosis Collagen 6-related myopathy Bethlem myopathy 1A Tip-toe gait COL6A2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA221840	rs_140404854	7 SubmittersRCV000316583 RCV000378558 RCV001083627 RCV002226455 RCV004537335 RCV000723766
NM_004369.4(COL6A3):c.1264G>A (p.Val422Met)	SNV Germline	Chr2:237387630	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Bethlem myopathy 1A Dystonia 27 COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA147906	rs_114511558	6 SubmittersRCV000080909 RCV000373285 RCV000544484 RCV002295281 RCV004549506
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)	SNV Germline	Chr2:237395121	Conflicting classifications of pathogenicity	Condition: not provided Ullrich congenital muscular dystrophy 1A Bethlem myopathy 1A Dystonia 27	Criteria Provided Conflicting Classifications	CA222591	rs_398124119	9 SubmittersRCV000080916 RCV000280500 RCV000319162 RCV000714578
NM_004369.4(COL6A3):c.3223C>A (p.Arg1075=)	SNV Germline	Chr2:237374868	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA222597	rs_201962257	2 SubmittersRCV000080928 RCV003631090
NM_004369.4(COL6A3):c.3954C>T (p.Tyr1318=)	SNV Germline	Chr2:237372063	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA222600	rs_375909800	5 SubmittersRCV000254019 RCV000723511 RCV001086342
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln)	SNV Germline	Chr2:237371833	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A Dystonia 27 Bethlem myopathy 1A Dystonia 27 Ullrich congenital muscular dystrophy 1A	Criteria Provided Conflicting Classifications	CA147959	rs_80272723	10 SubmittersRCV000080934 RCV000362566 RCV000417628 RCV001079176 RCV002298466 RCV002483144
NM_004369.4(COL6A3):c.421G>A (p.Gly141Arg)	SNV Germline	Chr2:237394875	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA222603	rs_398124120	3 SubmittersRCV000080935 RCV003764762
NM_004369.4(COL6A3):c.4399A>G (p.Asn1467Asp)	SNV Germline	Chr2:237369064	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA222606	rs_138049094	6 SubmittersRCV000080939 RCV000558864 RCV001082187 RCV001143351
NM_004369.4(COL6A3):c.4503C>T (p.Asp1501=)	SNV Germline	Chr2:237368960	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA222608	rs_115551245	5 SubmittersRCV000242148 RCV000347648 RCV001079752 RCV000723676
NM_004369.4(COL6A3):c.4848C>T (p.Ser1616=)	SNV Germline	Chr2:237368615	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA222611	rs_200948078	3 SubmittersRCV000080944 RCV002055185 RCV004549513
NM_004369.4(COL6A3):c.5418C>T (p.Ser1806=)	SNV Germline	Chr2:237366769	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA222620	rs_398124123	2 SubmittersRCV000080951 RCV001464406
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg)	SNV Germline	Chr2:237365926	Conflicting classifications of pathogenicity	Condition: not provided not specified Collagen 6-related myopathy Bethlem myopathy 1A Tip-toe gait Inborn genetic diseases COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA222623	rs_113153193	9 SubmittersRCV000080952 RCV000259065 RCV000359943 RCV001082869 RCV001548748 RCV004019559 RCV004549514
NM_004369.4(COL6A3):c.6138C>T (p.Ile2046=)	SNV Germline	Chr2:237361757	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA222629	rs_115401779	3 SubmittersRCV000723664 RCV001089100
NM_004369.4(COL6A3):c.6156+5G>A	SNV Germline	Chr2:237361734	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA222632	rs_112374074	3 SubmittersRCV000080958 RCV000723499 RCV003764763
NM_004369.4(COL6A3):c.6156G>C (p.Lys2052Asn)	SNV Germline	Chr2:237361739	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA222633	rs_398124125	4 SubmittersRCV000723513 RCV001055334
NM_004369.4(COL6A3):c.6210+1G>A	SNV Germline	Chr2:237361120	Pathogenic	Condition: not provided Ullrich congenital muscular dystrophy 1A Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1C	Criteria Provided Multiple Submitters No Conflicts	CA222636	rs_398124126	10 SubmittersRCV000080961 RCV000175056 RCV000817699 RCV003764764
NM_004369.4(COL6A3):c.6282+1G>A	SNV Germline	Chr2:237360087	Pathogenic	Condition: not provided Ullrich congenital muscular dystrophy 1A Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA222638	rs_398124128	4 SubmittersRCV000080964 RCV001775079 RCV001854427
NM_004369.4(COL6A3):c.6622G>T (p.Ala2208Ser)	SNV Germline	Chr2:237354904	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA222640	rs_398124129	2 SubmittersRCV000080970 RCV002514420
NM_004369.4(COL6A3):c.686C>T (p.Thr229Met)	SNV Germline	Chr2:237394610	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA222647	rs_141586922	4 SubmittersRCV000080975 RCV000525553
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp)	SNV Germline	Chr2:237344760	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A Tip-toe gait	Criteria Provided Conflicting Classifications	CA222652	rs_150165484	8 SubmittersRCV000282178 RCV000657932 RCV000987061 RCV002051806
NM_004369.4(COL6A3):c.730A>G (p.Ile244Val)	SNV Germline	Chr2:237388164	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Bethlem myopathy 1A Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA148021	rs_116729313	6 SubmittersRCV000080989 RCV000369989 RCV000534612 RCV001707522 RCV002514421
NM_004369.4(COL6A3):c.7400C>T (p.Ser2467Leu)	SNV Germline	Chr2:237344618	Conflicting classifications of pathogenicity	not specified Bethlem myopathy 1A Inborn genetic diseases COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA148027	rs_111803773	5 SubmittersRCV000080991 RCV000548028 RCV004019560 RCV004549516
NM_004369.4(COL6A3):c.7685T>C (p.Val2562Ala)	SNV Germline	Chr2:237342145	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA222658	rs_143631346	5 SubmittersRCV000306466 RCV000723496 RCV000813495
NM_004369.4(COL6A3):c.8008G>A (p.Ala2670Thr)	SNV Germline	Chr2:237340908	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA222664	rs_398124135	3 SubmittersRCV000081005 RCV001324707 RCV002514422
NM_004369.4(COL6A3):c.8464+20G>C	SNV Germline	Chr2:237340432	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA222667	rs_398124136	2 SubmittersRCV000081009 RCV002055188
NM_004369.4(COL6A3):c.862G>A (p.Asp288Asn)	SNV Germline	Chr2:237388032	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy not specified	Criteria Provided Conflicting Classifications	CA222668	rs_115729513	4 SubmittersRCV000081012 RCV000653661 RCV001141966 RCV001818246
NM_001848.3(COL6A1):c.349G>A (p.Val117Met)	SNV Germline	Chr21:45984390	Conflicting classifications of pathogenicity	Condition: not provided not specified Collagen 6-related myopathy Ullrich congenital muscular dystrophy 1A Bethlem myopathy 1A Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA231047	rs_150686304	8 SubmittersRCV000116792 RCV000149921 RCV000303402 RCV000515158 RCV001080605
NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met)	SNV Germline	Chr2:237381199	Conflicting classifications of pathogenicity	Condition: not provided not specified Tip-toe gait Bethlem myopathy 1A COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA231050	rs_34741387	5 SubmittersRCV000116795 RCV000243539 RCV002222398 RCV001083188 RCV004549580
NM_004369.4(COL6A3):c.3680-5C>T	SNV Germline	Chr2:237372342	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA152465	rs_370146203	5 SubmittersRCV000116796 RCV000724221 RCV001084876
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys)	SNV Germline	Chr2:237371861	Conflicting classifications of pathogenicity	not specified Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A Tip-toe gait COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA203744	rs_146092501	13 SubmittersRCV000180594 RCV000224823 RCV000304466 RCV001081946 RCV001358668 RCV004549581
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val)	SNV Germline	Chr2:237340907	Conflicting classifications of pathogenicity	Condition: not provided Ullrich congenital muscular dystrophy 1A Bethlem myopathy 1A Dystonia 27 Bethlem myopathy 1A COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA231053	rs_142851023	7 SubmittersRCV000116801 RCV000515400 RCV000550052 RCV004549582
NM_004369.4(COL6A3):c.6868C>T (p.Arg2290Cys)	SNV Germline	Chr2:237350158	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA295314	rs_116608946	5 SubmittersRCV000369192 RCV000817834 RCV000725025
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr)	SNV Germline	Chr2:237367275	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Bethlem myopathy 1A Condition: not provided Dystonia 27 COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA200826	rs_114322958	9 SubmittersRCV000174100 RCV000350868 RCV000987066 RCV001719926 RCV002295283 RCV004551301
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu)	SNV Germline	Chr2:237376802	Conflicting classifications of pathogenicity	not specified Bethlem myopathy 1A Dystonia 27 Ullrich congenital muscular dystrophy 1A Bethlem myopathy 1A Condition: not provided Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA247184	rs_114284669	6 SubmittersRCV000247969 RCV000515295 RCV000653501 RCV000724543 RCV001139121
NM_004369.4(COL6A3):c.2305G>A (p.Ala769Thr)	SNV Germline	Chr2:237378828	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA295323	rs_142719863	8 SubmittersRCV000371027 RCV000727373 RCV000804572
NM_004369.4(COL6A3):c.1826G>A (p.Arg609Gln)	SNV Germline	Chr2:237380986	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications		rs_149330325	4 SubmittersRCV000730637 RCV001139244 RCV000795686
NM_001848.3(COL6A1):c.1378G>A (p.Val460Ile)	SNV Germline	Chr21:45994209	Conflicting classifications of pathogenicity	Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications		rs_375452881	2 SubmittersRCV001205926 RCV003144140
NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly)	SNV Germline	Chr21:46003561	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Condition: not provided Inborn genetic diseases Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA295255	rs_140534207	10 SubmittersRCV000149919 RCV000301615 RCV000762044 RCV001265660 RCV001086949
NM_001849.4(COL6A2):c.857G>A (p.Gly286Glu)	SNV Germline	Chr21:46116010	Pathogenic/Likely pathogenic	Condition: not provided Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA295264	rs_727502827	2 SubmittersRCV000593309 RCV000810925
NM_001849.4(COL6A2):c.874G>A (p.Gly292Ser)	SNV Germline	Chr21:46116027	Pathogenic	Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts		rs_727502828	2 SubmittersRCV002047237
NM_001849.4(COL6A2):c.911G>T (p.Gly304Val)	SNV Germline	Chr21:46116387	Likely pathogenic	Bethlem myopathy 1A	Criteria Provided Single Submitter	CA295290	rs_727502832	1 SubmittersRCV000559107
NM_001849.4(COL6A2):c.1465C>T (p.Arg489Trp)	SNV Germline	Chr21:46121562	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A	Criteria Provided Conflicting Classifications	CA295270	rs_727502829	6 SubmittersRCV000735128 RCV001138979 RCV002514869 RCV001330649
NM_001849.4(COL6A2):c.2002G>A (p.Glu668Lys)	SNV Germline	Chr21:46125817	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA295279	rs_138948335	5 SubmittersRCV000512668 RCV000808953
NM_001849.4(COL6A2):c.2566G>A (p.Val856Met)	SNV Germline	Chr21:46132058	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Myosclerosis Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA295284	rs_368160013	5 SubmittersRCV000149937 RCV000316783 RCV000373797 RCV001053729 RCV002514870
NM_004369.4(COL6A3):c.7007C>T (p.Pro2336Leu)	SNV Germline	Chr2:237347829	Conflicting classifications of pathogenicity	Inborn genetic diseases not specified Collagen 6-related myopathy Bethlem myopathy 1A Condition: not provided COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA204818	rs_202092407	6 SubmittersRCV000190770 RCV000250883 RCV000344093 RCV000525963 RCV001706016 RCV004551318
NM_001849.4(COL6A2):c.1336G>C (p.Asp446His)	SNV Germline	Chr21:46120518	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA233813	rs_535007570	7 SubmittersRCV000153083 RCV000557300
NM_004369.4(COL6A3):c.4510C>T (p.Arg1504Trp)	SNV Germline	Chr2:237368953	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA233835	rs_144223596	7 SubmittersRCV000487673 RCV000528795 RCV001141518
NM_004369.4(COL6A3):c.6751C>T (p.Arg2251Trp)	SNV Germline	Chr2:237352524	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Bethlem myopathy 1A Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA233825	rs_116690555	7 SubmittersRCV000248266 RCV000354274 RCV000653606 RCV001706017 RCV002514950
NM_001849.4(COL6A2):c.2528G>A (p.Arg843Gln)	SNV Germline	Chr21:46132020	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA233819	rs_201736323	3 SubmittersRCV000153086 RCV000704454
NM_004369.4(COL6A3):c.3287G>A (p.Arg1096His)	SNV Germline	Chr2:237374804	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA233841	rs_200860322	3 SubmittersRCV000153097 RCV001087811
NM_001849.4(COL6A2):c.1162G>A (p.Gly388Arg)	SNV Germline	Chr21:46118659	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA233810	rs_727503883	3 SubmittersRCV000153082 RCV000808812
NM_001849.4(COL6A2):c.1761C>T (p.Pro587=)	SNV Germline	Chr21:46124911	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA233816	rs_146311719	3 SubmittersRCV000153084 RCV000723870 RCV001079810
NM_004369.4(COL6A3):c.7401G>A (p.Ser2467=)	SNV Germline	Chr2:237344617	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA233822	rs_377572272	4 SubmittersRCV000153089 RCV000278723 RCV001087660
NM_004369.4(COL6A3):c.6157-4T>G	SNV Germline	Chr2:237361178	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA233828	rs_536696110	3 SubmittersRCV000153092 RCV002056028 RCV004551319
NM_004369.4(COL6A3):c.5910C>T (p.Arg1970=)	SNV Germline	Chr2:237364357	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA233829	rs_727503884	2 SubmittersRCV000153093 RCV001497015
NM_004369.4(COL6A3):c.5619C>T (p.His1873=)	SNV Germline	Chr2:237365917	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA233832	rs_146355600	6 SubmittersRCV000249315 RCV000302602 RCV000415904 RCV001079654
NM_004369.4(COL6A3):c.2302C>G (p.Arg768Gly)	SNV Germline	Chr2:237378831	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA236133	rs_200722892	2 SubmittersRCV000171340 RCV001243937
NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn)	SNV Germline	Chr21:46125812	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA236432	rs_786205642	3 SubmittersRCV000171510 RCV001337641
NM_004369.4(COL6A3):c.7660G>A (p.Ala2554Thr)	SNV Germline	Chr2:237344358	Conflicting classifications of pathogenicity	Dystonia 27 Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A	Criteria Provided Conflicting Classifications	CA200139	rs_786205870	4 SubmittersRCV000172848 RCV000699713 RCV001198487
NM_004369.4(COL6A3):c.8966-1G>C	SNV Germline	Chr2:237334890	Pathogenic	Dystonia 27 Condition: not provided Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA200148	rs_767517186	6 SubmittersRCV000172851 RCV000592070 RCV000688238
NM_004369.4(COL6A3):c.7502G>A (p.Arg2501His)	SNV Germline	Chr2:237344516	Conflicting classifications of pathogenicity	Dystonia 27 Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA200149	rs_541928674	3 SubmittersRCV000172852 RCV000389218 RCV001372713
NM_001849.4(COL6A2):c.988G>A (p.Asp330Asn)	SNV Germline	Chr21:46116803	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Myosclerosis Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA239204	rs_139399166	5 SubmittersRCV000311316 RCV000407691 RCV000536085 RCV000724011
NM_004369.4(COL6A3):c.4436A>T (p.Gln1479Leu)	SNV Germline	Chr2:237369027	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA239253	rs_369449472	3 SubmittersRCV000173801 RCV000794950
NM_004369.4(COL6A3):c.5341A>G (p.Ile1781Val)	SNV Germline	Chr2:237366846	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A Bethlem myopathy 1A Dystonia 27	Criteria Provided Conflicting Classifications	CA239566	rs_145447965	3 SubmittersRCV000174099 RCV000547737 RCV000765642
NM_001848.3(COL6A1):c.956A>G (p.Lys319Arg)	SNV Germline	Chr21:45990283	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA239823	rs_794727059	3 SubmittersRCV000174301 RCV000821054
NM_001848.3(COL6A1):c.957+2T>C	SNV Germline	Chr21:45990286	Pathogenic	Condition: not provided Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA274971	rs_794727060	2 SubmittersRCV000174303 RCV002269932
NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg)	SNV Germline	Chr21:46117890	Conflicting classifications of pathogenicity	not specified Myosclerosis Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A COL6A2-related disorder	Criteria Provided Conflicting Classifications	CA239826	rs_199929757	6 SubmittersRCV000174304 RCV000300853 RCV000353406 RCV000762045 RCV001086194 RCV004539608
NM_004369.4(COL6A3):c.5501-4C>G	SNV Germline	Chr2:237366039	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA239847	rs_143237699	3 SubmittersRCV000174329 RCV001085054
NM_001848.3(COL6A1):c.1013G>A (p.Gly338Glu)	SNV Germline	Chr21:45990783	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA240292	rs_794727121	3 SubmittersRCV000320695 RCV001071986
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn)	SNV Germline	Chr21:46120518	Conflicting classifications of pathogenicity	Myosclerosis not specified Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A Inborn genetic diseases Collagen 6-related myopathy Ullrich congenital muscular dystrophy 1A Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA240700	rs_535007570	10 SubmittersRCV000300525 RCV000232259 RCV000391113 RCV000766827 RCV000544905 RCV001267221 RCV003483560
NM_001849.4(COL6A2):c.1333-10C>G	SNV Germline	Chr21:46120505	Conflicting classifications of pathogenicity	Myosclerosis Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A COL6A2-related disorder	Criteria Provided Conflicting Classifications	CA240703	rs_199513044	7 SubmittersRCV000348429 RCV000400775 RCV000724812 RCV001081936 RCV004539622
NM_001849.4(COL6A2):c.1437T>C (p.Ala479=)	SNV Germline	Chr21:46121102	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Myosclerosis Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA240865	rs_149077114	6 SubmittersRCV000249787 RCV000355395 RCV000391111 RCV000724248 RCV001087783
NM_004369.4(COL6A3):c.6239G>A (p.Gly2080Asp)	SNV Germline	Chr2:237360131	Pathogenic	Bethlem myopathy 1A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA275040	rs_794727188	4 SubmittersRCV000175185 RCV000724747
NM_004369.4(COL6A3):c.6293G>T (p.Gly2098Val)	SNV Germline	Chr2:237359378	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA275050	rs_794727206	2 SubmittersRCV000175313 RCV002516670
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys)	SNV Germline	Chr21:45982738	Conflicting classifications of pathogenicity	not specified Condition: not provided Ullrich congenital muscular dystrophy 1A Bethlem myopathy 1A Bethlem myopathy 1A Collagen 6-related myopathy Ullrich congenital muscular dystrophy 1A	Criteria Provided Conflicting Classifications	CA241436	rs_137964147	9 SubmittersRCV000175702 RCV000724794 RCV000764263 RCV000653530 RCV001139936 RCV000754716
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp)	SNV Germline	Chr21:45982706	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A COL6A1-related disorder	Criteria Provided Conflicting Classifications	CA241439	rs_143502850	9 SubmittersRCV000202666 RCV000390817 RCV000724857 RCV001086453 RCV004537387
NM_001849.4(COL6A2):c.22G>A (p.Val8Met)	SNV Germline	Chr21:46111498	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA241442	rs_192476178	4 SubmittersRCV000724735 RCV001084510
NM_001848.3(COL6A1):c.1350G>A (p.Pro450=)	SNV Germline	Chr21:45994181	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA241921	rs_144887329	3 SubmittersRCV000723484 RCV001081300
NM_001848.3(COL6A1):c.1575C>T (p.Pro525=)	SNV Germline	Chr21:45998171	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A COL6A1-related disorder	Criteria Provided Conflicting Classifications	CA242318	rs_781031251	3 SubmittersRCV000176389 RCV001236574 RCV004539637
NM_001849.4(COL6A2):c.1932G>A (p.Arg644=)	SNV Germline	Chr21:46125580	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA242535	rs_776676512	2 SubmittersRCV000176543 RCV002517698
NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val)	SNV Germline	Chr21:45999162	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA242672	rs_374315921	6 SubmittersRCV000176643 RCV000547013 RCV000764264 RCV002517701
NM_001849.4(COL6A2):c.2098G>A (p.Gly700Ser)	SNV Germline	Chr21:46125913	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA242678	rs_794727418	2 SubmittersRCV000176645 RCV001368873
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met)	SNV Germline	Chr21:46126007	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A	Criteria Provided Conflicting Classifications	CA242680	rs_794727419	5 SubmittersRCV000176647 RCV000990370 RCV003441146
NM_004369.4(COL6A3):c.6749C>T (p.Pro2250Leu)	SNV Germline	Chr2:237352526	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A not specified	Criteria Provided Conflicting Classifications	CA242694	rs_140728855	6 SubmittersRCV000724744 RCV000794513 RCV003488427
NM_001849.4(COL6A2):c.2517C>T (p.Asp839=)	SNV Germline	Chr21:46132009	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Myosclerosis Condition: not provided Bethlem myopathy 1A COL6A2-related disorder	Criteria Provided Conflicting Classifications	CA242932	rs_113002150	5 SubmittersRCV000310053 RCV000367104 RCV000723503 RCV001087613 RCV004537414
NM_001849.4(COL6A2):c.2961G>A (p.Thr987=)	SNV Germline	Chr21:46132453	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA242935	rs_149845431	3 SubmittersRCV000176857 RCV000724103 RCV001088613
NM_001849.4(COL6A2):c.2751G>T (p.Val917=)	SNV Germline	Chr21:46132243	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Myosclerosis Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA242943	rs_111341650	5 SubmittersRCV000241740 RCV000294726 RCV000351968 RCV000724665 RCV001086781
NM_001849.4(COL6A2):c.2683A>C (p.Ser895Arg)	SNV Germline	Chr21:46132175	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy COL6A2-related disorder	Criteria Provided Conflicting Classifications	CA242946	rs_141233891	6 SubmittersRCV000176863 RCV000416019 RCV001082268 RCV001143620 RCV004539642
NM_001849.4(COL6A2):c.2679G>A (p.Pro893=)	SNV Germline	Chr21:46132171	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA242949	rs_748286207	2 SubmittersRCV000176865 RCV001460927
NM_001849.4(COL6A2):c.2850C>T (p.Gly950=)	SNV Germline	Chr21:46132342	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A COL6A2-related disorder	Criteria Provided Conflicting Classifications	CA242952	rs_751192681	3 SubmittersRCV000176866 RCV001089400 RCV004537415
NM_001849.4(COL6A2):c.2605G>T (p.Asp869Tyr)	SNV Germline	Chr21:46132097	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Myosclerosis Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA242955	rs_141021828	4 SubmittersRCV000351153 RCV000407370 RCV000724824 RCV001078865
NM_004369.4(COL6A3):c.6817-5T>C	SNV Germline	Chr2:237350214	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA242967	rs_794727464	2 SubmittersRCV000176876 RCV002517705
NM_004369.4(COL6A3):c.410G>A (p.Arg137Gln)	SNV Germline	Chr2:237394886	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA243300	rs_779126378	4 SubmittersRCV000177196 RCV000329032 RCV000811298
NM_001848.3(COL6A1):c.2045G>A (p.Arg682Gln)	SNV Germline	Chr21:46002049	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA243745	rs_148962954	6 SubmittersRCV000253738 RCV000268594 RCV000585392 RCV000653535
NM_001848.3(COL6A1):c.2821C>T (p.Leu941Phe)	SNV Germline	Chr21:46003747	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA244776	rs_147882179	7 SubmittersRCV000177839 RCV000334943 RCV000824033 RCV002516756
NM_001848.3(COL6A1):c.2891G>A (p.Arg964Gln)	SNV Germline	Chr21:46003817	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA244782	rs_794727580	3 SubmittersRCV000177841 RCV001338749
NM_001848.3(COL6A1):c.2507G>A (p.Gly836Asp)	SNV Germline	Chr21:46003433	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA244788	rs_794727582	2 SubmittersRCV000177843 RCV003631092
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu)	SNV Germline	Chr21:46003735	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA244794	rs_117583120	9 SubmittersRCV000279845 RCV000431648 RCV001087752
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)	SNV Germline	Chr2:237344571	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A not specified COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA244831	rs_139260335	14 SubmittersRCV000177877 RCV000352490 RCV003114326 RCV003387788
NM_004369.4(COL6A3):c.7175-6C>G	SNV Germline	Chr2:237344849	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA244834	rs_199723531	4 SubmittersRCV000177878 RCV001085616
NM_004369.4(COL6A3):c.7441A>G (p.Thr2481Ala)	SNV Germline	Chr2:237344577	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA244844	rs_201467603	3 SubmittersRCV000177882 RCV000690650
NM_004369.4(COL6A3):c.8415C>T (p.Asn2805=)	SNV Germline	Chr2:237340501	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA244928	rs_375442243	3 SubmittersRCV000177941 RCV001138187 RCV001088529
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp)	SNV Germline	Chr2:237340727	Conflicting classifications of pathogenicity	Condition: not provided not specified Collagen 6-related myopathy Bethlem myopathy 1A Tip-toe gait	Criteria Provided Conflicting Classifications	CA244931	rs_138466455	14 SubmittersRCV000177942 RCV000254307 RCV000270502 RCV001081264 RCV002226459
NM_001849.4(COL6A2):c.730G>A (p.Gly244Arg)	SNV Germline	Chr21:46112819	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA245199	rs_199806576	3 SubmittersRCV000178169 RCV000805017
NM_004369.4(COL6A3):c.1150G>A (p.Ala384Thr)	SNV Germline	Chr2:237387744	Conflicting classifications of pathogenicity	Bethlem myopathy 1A Condition: not provided not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA245244	rs_374267444	6 SubmittersRCV000822172 RCV000724219 RCV001818436 RCV002516769
NM_004369.4(COL6A3):c.1146G>A (p.Gln382=)	SNV Germline	Chr2:237387748	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA245247	rs_368800027	3 SubmittersRCV000178212 RCV000724218 RCV001427403
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr)	SNV Germline	Chr2:237388119	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A Inborn genetic diseases COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA202762	rs_141609058	7 SubmittersRCV000178213 RCV000355357 RCV000981752 RCV001088802 RCV002516770 RCV004553004
NM_004369.4(COL6A3):c.8819C>T (p.Thr2940Met)	SNV Germline	Chr2:237336281	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA245531	rs_200626456	5 SubmittersRCV000178441 RCV000286598 RCV000557223 RCV002516774
NM_004369.4(COL6A3):c.8724C>T (p.Ala2908=)	SNV Germline	Chr2:237336376	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA245534	rs_114684687	2 SubmittersRCV000178442 RCV001082785
NM_004369.4(COL6A3):c.9061G>C (p.Asp3021His)	SNV Germline	Chr2:237334794	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA245566	rs_144054353	4 SubmittersRCV000178463 RCV001064901 RCV004553007
NM_004369.4(COL6A3):c.8970G>A (p.Lys2990=)	SNV Germline	Chr2:237334885	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA245572	rs_113721676	3 SubmittersRCV000178465 RCV001088696 RCV001138503
NM_004369.4(COL6A3):c.9487G>A (p.Ala3163Thr)	SNV Germline	Chr2:237325566	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA245660	rs_553486570	2 SubmittersRCV000178531 RCV000818011
NM_004369.4(COL6A3):c.9351C>T (p.Asp3117=)	SNV Germline	Chr2:237325702	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA245663	rs_148821986	4 SubmittersRCV000178532 RCV000286270 RCV001088407
NM_001848.3(COL6A1):c.717C>T (p.Ile239=)	SNV Germline	Chr21:45987072	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA246042	rs_775349013	3 SubmittersRCV000178848 RCV002515270
NM_001848.3(COL6A1):c.595C>T (p.Arg199Cys)	SNV Germline	Chr21:45986950	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA246045	rs_749628937	4 SubmittersRCV000178849 RCV001243310 RCV004020133
NM_001849.4(COL6A2):c.801+1G>A	SNV Germline	Chr21:46114074	Pathogenic	Condition: not provided Bethlem myopathy 1A Abnormality of the musculature	Criteria Provided Multiple Submitters No Conflicts	CA275306	rs_794727715	3 SubmittersRCV000178850 RCV000178851 RCV001814091
NM_004369.4(COL6A3):c.1478T>C (p.Val493Ala)	SNV Germline	Chr2:237381334	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Bethlem myopathy 1A Condition: not provided Dystonia 27 COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA203065	rs_116794756	7 SubmittersRCV000178890 RCV000267124 RCV000557584 RCV001753582 RCV002298505 RCV004553011
NM_004369.4(COL6A3):c.1948G>A (p.Val650Ile)	SNV Germline	Chr2:237379185	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA246674	rs_149187225	2 SubmittersRCV000179433 RCV002517751
NM_004369.4(COL6A3):c.2292C>T (p.Asn764=)	SNV Germline	Chr2:237378841	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA246677	rs_116066149	6 SubmittersRCV000250704 RCV000390685 RCV000724740 RCV001085540
NM_004369.4(COL6A3):c.2444C>A (p.Pro815His)	SNV Germline	Chr2:237378689	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA246680	rs_199601240	4 SubmittersRCV000179436 RCV000653600
NM_001849.4(COL6A2):c.875G>T (p.Gly292Val)	SNV Germline	Chr21:46116028	Pathogenic	Condition: not provided Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA275394	rs_794727855	3 SubmittersRCV000179831 RCV000179832
NM_004369.4(COL6A3):c.3063A>G (p.Pro1021=)	SNV Germline	Chr2:237376779	Conflicting classifications of pathogenicity	not specified Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA247186	rs_200098134	3 SubmittersRCV000179881 RCV000539420 RCV000724519
NM_004369.4(COL6A3):c.3589G>A (p.Val1197Ile)	SNV Germline	Chr2:237374502	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A not specified	Criteria Provided Conflicting Classifications	CA247620	rs_748053172	4 SubmittersRCV000180242 RCV001852242 RCV003398904
NM_004369.4(COL6A3):c.3138G>T (p.Leu1046=)	SNV Germline	Chr2:237374953	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA247623	rs_780402445	2 SubmittersRCV000180243 RCV002054147
NM_004369.4(COL6A3):c.3446G>A (p.Arg1149Gln)	SNV Germline	Chr2:237374645	Conflicting classifications of pathogenicity	not specified Bethlem myopathy 1A Collagen 6-related myopathy Condition: not provided Inborn genetic diseases COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA247626	rs_36062562	6 SubmittersRCV000180244 RCV000653624 RCV001143453 RCV001697128 RCV002516813 RCV004553022
NM_001849.4(COL6A2):c.933A>T (p.Glu311Asp)	SNV Germline	Chr21:46116656	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA248067	rs_370624136	5 SubmittersRCV000180577 RCV001141472 RCV001212040 RCV004020175
NM_004369.4(COL6A3):c.4103C>T (p.Thr1368Met)	SNV Germline	Chr2:237371914	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA248090	rs_116505603	6 SubmittersRCV000374173 RCV000527934 RCV000724314
NM_004369.4(COL6A3):c.4217C>T (p.Thr1406Met)	SNV Germline	Chr2:237371800	Conflicting classifications of pathogenicity	not specified Bethlem myopathy 1A Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA248093	rs_114061998	5 SubmittersRCV000249892 RCV000653662 RCV001711471 RCV002516823
NM_004369.4(COL6A3):c.3923G>A (p.Arg1308Gln)	SNV Germline	Chr2:237372094	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA248099	rs_774461787	2 SubmittersRCV000180600 RCV000803816
NM_001848.3(COL6A1):c.821C>T (p.Pro274Leu)	SNV Germline	Chr21:45989100	Conflicting classifications of pathogenicity	Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA275469	rs_201093313	3 SubmittersRCV000184024 RCV000731127
NM_004370.6(COL12A1):c.7840+1G>A	SNV Germline	Chr6:75113601	Pathogenic	Ullrich congenital muscular dystrophy 2 Ullrich congenital muscular dystrophy 2 Bethlem myopathy 2	Criteria Provided Single Submitter	CA10575740	rs_875989819	2 SubmittersRCV000186498 RCV001852431
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr)	SNV Germline	Chr6:75121387	Pathogenic/Likely pathogenic	Bethlem myopathy 2 Condition: not provided Ullrich congenital muscular dystrophy 2 Ullrich congenital muscular dystrophy 2 Bethlem myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA203987	rs_796052093	6 SubmittersRCV000186499 RCV000480507 RCV000664222 RCV000850513
NM_004370.6(COL12A1):c.8357G>A (p.Gly2786Asp)	SNV Germline	Chr6:75102655	Pathogenic	Bethlem myopathy 2	No Assertion Criteria Provided	CA203989	rs_796052094	1 SubmittersRCV000186500
NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys)	SNV Germline	Chr6:75131984	Conflicting classifications of pathogenicity	Bethlem myopathy 2 Condition: not provided Ullrich congenital muscular dystrophy 2 Bethlem myopathy 2	Criteria Provided Conflicting Classifications	CA203991	rs_200487396	4 SubmittersRCV000186501 RCV000441199 RCV000702038
NM_004369.4(COL6A3):c.6283-2A>C	SNV Germline	Chr2:237359390	Likely pathogenic	Ullrich congenital muscular dystrophy 1A Bethlem myopathy 1A	No Assertion Criteria Provided	CA275964	rs_797044988	1 SubmittersRCV000190463
NM_004369.4(COL6A3):c.4888C>T (p.Pro1630Ser)	SNV Germline	Chr2:237368575	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA209210	rs_145560772	5 SubmittersRCV000194796 RCV000725387 RCV000693810
NM_001848.3(COL6A1):c.1003-2A>G	SNV Germline	Chr21:45990771	Pathogenic	Myopathy Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA208649	rs_797045477	2 SubmittersRCV000194464 RCV001051037
NM_001848.3(COL6A1):c.2573G>A (p.Arg858His)	SNV Germline	Chr21:46003499	Conflicting classifications of pathogenicity	not specified Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA205352	rs_537763400	2 SubmittersRCV000192499 RCV001069846
NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val)	SNV Germline	Chr21:46132125	Conflicting classifications of pathogenicity	Myopathy Condition: not provided Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A	Criteria Provided Conflicting Classifications	CA208217	rs_774521989	6 SubmittersRCV000194202 RCV000266193 RCV000546019 RCV002227456
NM_001849.4(COL6A2):c.2096G>A (p.Gly699Asp)	SNV Germline	Chr21:46125911	Conflicting classifications of pathogenicity	Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA278956	rs_863224861	3 SubmittersRCV000197493 RCV000593438
NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile)	SNV Germline	Chr2:237372011	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA248984	rs_144051775	6 SubmittersRCV000202790 RCV000539163 RCV001083049 RCV004553105
NM_004369.4(COL6A3):c.8168T>C (p.Ile2723Thr)	SNV Germline	Chr2:237340748	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA2187607	rs_373108028	4 SubmittersRCV000233428 RCV000327869 RCV000686686 RCV001589105
NM_004369.4(COL6A3):c.7264C>T (p.Arg2422Ter)	SNV Germline	Chr2:237344754	Pathogenic/Likely pathogenic	Bethlem myopathy 1A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10575974	rs_878854379	3 SubmittersRCV000232617 RCV001781634
NM_004369.4(COL6A3):c.2218C>T (p.Arg740Cys)	SNV Germline	Chr2:237378915	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189454	rs_147182340	4 SubmittersRCV000234678 RCV000726452 RCV002517430
NM_001849.4(COL6A2):c.954G>T (p.Lys318Asn)	SNV Germline	Chr21:46116677	Likely pathogenic	Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA10575985	rs_878854362	2 SubmittersRCV000230758
NM_001849.4(COL6A2):c.1358G>A (p.Arg453His)	SNV Germline	Chr21:46120540	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10575986	rs_878854386	6 SubmittersRCV000234070 RCV000726521 RCV000685020
NM_004369.4(COL6A3):c.6754-9C>G	SNV Germline	Chr2:237351201	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10586821	rs_886038542	3 SubmittersRCV000253304 RCV000726944 RCV002058156
NM_004369.4(COL6A3):c.5139G>A (p.Gly1713=)	SNV Germline	Chr2:237367048	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2188735	rs_114338020	3 SubmittersRCV000249031 RCV000726380 RCV001089254
NM_004369.4(COL6A3):c.4849G>A (p.Ala1617Thr)	SNV Germline	Chr2:237368614	Conflicting classifications of pathogenicity	not specified Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA2188802	rs_200433282	4 SubmittersRCV000243769 RCV000543223 RCV000727538
NM_004369.4(COL6A3):c.4011G>A (p.Pro1337=)	SNV Germline	Chr2:237372006	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189018	rs_114498197	3 SubmittersRCV000248967 RCV000731459 RCV001087220
NM_004369.4(COL6A3):c.3324C>T (p.Thr1108=)	SNV Germline	Chr2:237374767	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189187	rs_116239777	5 SubmittersRCV000243650 RCV000298696 RCV000730383 RCV001081211
NM_004369.4(COL6A3):c.2674G>A (p.Glu892Lys)	SNV Germline	Chr2:237377168	Conflicting classifications of pathogenicity	not specified Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189345	rs_760380736	4 SubmittersRCV000242993 RCV000725228 RCV001141744 RCV001326529
NM_004369.4(COL6A3):c.1056C>T (p.Leu352=)	SNV Germline	Chr2:237387838	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189719	rs_78365682	3 SubmittersRCV000252161 RCV000730871 RCV001089253
NM_004369.4(COL6A3):c.576G>T (p.Pro192=)	SNV Germline	Chr2:237394720	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189834	rs_141560881	3 SubmittersRCV000254299 RCV000732973 RCV001443936
NM_004369.4(COL6A3):c.489G>A (p.Ala163=)	SNV Germline	Chr2:237394807	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189852	rs_148970984	8 SubmittersRCV000249125 RCV000277710 RCV000725060 RCV001084055
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His)	SNV Germline	Chr6:75087675	Conflicting classifications of pathogenicity	not specified Condition: not provided Ullrich congenital muscular dystrophy 2 Bethlem myopathy 2 Ullrich congenital muscular dystrophy 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3892023	rs_41266761	11 SubmittersRCV000248918 RCV000488209 RCV001082633 RCV000987739 RCV002519921
NM_004370.6(COL12A1):c.7898T>C (p.Val2633Ala)	SNV Germline	Chr6:75113256	Conflicting classifications of pathogenicity	not specified Ullrich congenital muscular dystrophy 2 Bethlem myopathy 2 Condition: not provided See cases	Criteria Provided Conflicting Classifications	CA3892432	rs_200408101	5 SubmittersRCV000251433 RCV000541900 RCV001764233 RCV002252066
NM_001848.3(COL6A1):c.423C>T (p.Leu141=)	SNV Germline	Chr21:45984464	Conflicting classifications of pathogenicity	not specified Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA10069561	rs_373486149	4 SubmittersRCV000250435 RCV000525643 RCV000726612
NM_001848.3(COL6A1):c.993C>T (p.Asp331=)	SNV Germline	Chr21:45990413	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10069952	rs_373948031	3 SubmittersRCV000252571 RCV000725103 RCV001088716
NM_001848.3(COL6A1):c.1584G>A (p.Pro528=)	SNV Germline	Chr21:45998406	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070429	rs_139243418	5 SubmittersRCV000253295 RCV000263375 RCV000725628 RCV001082388
NM_001848.3(COL6A1):c.1671C>T (p.Asp557=)	SNV Germline	Chr21:45998956	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070466	rs_770099663	4 SubmittersRCV000250549 RCV000278752 RCV000725820 RCV002058079
NM_001848.3(COL6A1):c.2418C>T (p.Thr806=)	SNV Germline	Chr21:46002694	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070857	rs_760768642	3 SubmittersRCV000254096 RCV000725002 RCV001078632
NM_001848.3(COL6A1):c.2512G>A (p.Ala838Thr)	SNV Germline	Chr21:46003438	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10070947	rs_529770550	4 SubmittersRCV000247019 RCV000766392 RCV001854959 RCV004021007
NM_001848.3(COL6A1):c.2709C>T (p.Ala903=)	SNV Germline	Chr21:46003635	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071007	rs_139018148	3 SubmittersRCV000254253 RCV000726190 RCV001486603
NM_001849.4(COL6A2):c.2031C>T (p.Asp677=)	SNV Germline	Chr21:46125846	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10072418	rs_759646708	3 SubmittersRCV000245843 RCV000725361 RCV001506284
NM_001849.4(COL6A2):c.1970-9G>A	SNV Germline	Chr21:46125776	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A Bethlem myopathy Hip flexor weakness Congenital hip dislocation Muscle weakness Difficulty walking Falls Qualitative or quantitative defects of collagen 6 Ullrich congenital muscular dystrophy 1A Abnormality of the musculature Ullrich congenital muscular dystrophy 1B	Criteria Provided Conflicting Classifications	CA10072396	rs_747900252	18 SubmittersRCV000255313 RCV000354105 RCV000556474 RCV001261891 RCV000626815 RCV000844694 RCV002227463 RCV001814135 RCV003989514
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro)	SNV Germline	Chr21:46132386	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A	Criteria Provided Conflicting Classifications	CA10588713	rs_201854898	5 SubmittersRCV000254951 RCV000560338 RCV002227464
NM_004369.4(COL6A3):c.3844G>A (p.Val1282Met)	SNV Germline	Chr2:237372173	Conflicting classifications of pathogenicity	Bethlem myopathy 1A Collagen 6-related myopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA2189061	rs_535661345	4 SubmittersRCV000256486 RCV000291174 RCV000498501
NM_004369.4(COL6A3):c.6158G>T (p.Gly2053Val)	SNV Germline	Chr2:237361173	Pathogenic/Likely pathogenic	Condition: not provided Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA10602841	rs_886041329	3 SubmittersRCV000334260 RCV001059032
NM_001848.3(COL6A1):c.842G>A (p.Gly281Glu)	SNV Germline	Chr21:45989121	Pathogenic	Condition: not provided Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA10603503	rs_886041383	2 SubmittersRCV000387642 RCV001855058
NM_001849.4(COL6A2):c.2422+1G>A	SNV Germline	Chr21:46126238	Pathogenic	Condition: not provided Ullrich congenital muscular dystrophy 1A Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA10603558	rs_113828929	5 SubmittersRCV000332897 RCV000985002 RCV003326395
NM_001849.4(COL6A2):c.2582G>A (p.Arg861Gln)	SNV Germline	Chr21:46132074	Conflicting classifications of pathogenicity	Myosclerosis Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10072935	rs_373813975	4 SubmittersRCV000285371 RCV000377482 RCV000400296 RCV001087885
NM_001849.4(COL6A2):c.2844G>A (p.Thr948=)	SNV Germline	Chr21:46132336	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10073050	rs_757818559	2 SubmittersRCV000345672 RCV001855079
NM_001848.3(COL6A1):c.1298G>A (p.Arg433Gln)	SNV Germline	Chr21:45992773	Conflicting classifications of pathogenicity	Collagen 6-related myopathy not specified Bethlem myopathy 1A Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA10070229	rs_151158105	6 SubmittersRCV000280526 RCV000403757 RCV000548930 RCV001265659 RCV001311580
NM_004369.4(COL6A3):c.2343G>A (p.Ala781=)	SNV Germline	Chr2:237378790	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189424	rs_561804945	3 SubmittersRCV000335355 RCV000724641 RCV001475458
NM_001848.3(COL6A1):c.665G>A (p.Arg222His)	SNV Germline	Chr21:45987020	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A not specified	Criteria Provided Conflicting Classifications	CA10069645	rs_780638665	3 SubmittersRCV000379667 RCV000819388 RCV003401233
NM_004369.4(COL6A3):c.3852C>T (p.Phe1284=)	SNV Germline	Chr2:237372165	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189060	rs_148561729	3 SubmittersRCV000325567 RCV000724849 RCV002059073
NM_001848.3(COL6A1):c.1555G>A (p.Glu519Lys)	SNV Germline	Chr21:45998151	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070396	rs_754384963	4 SubmittersRCV000330732 RCV000368419 RCV000821708
NM_004369.4(COL6A3):c.7173C>T (p.Tyr2391=)	SNV Germline	Chr2:237344942	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2187879	rs_114248590	3 SubmittersRCV000324903 RCV001138707 RCV001088226
NM_001848.3(COL6A1):c.2050G>T (p.Val684Leu)	SNV Germline	Chr21:46002054	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070733	rs_138312247	3 SubmittersRCV000386541 RCV001855086
NM_001848.3(COL6A1):c.1399-3C>T	SNV Germline	Chr21:45997418	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070292	rs_200095847	5 SubmittersRCV000366066 RCV000724951 RCV001037986
NM_001848.3(COL6A1):c.1525-9C>T	SNV Germline	Chr21:45998112	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070389	rs_768508076	3 SubmittersRCV000260645 RCV000724962 RCV001503629
NM_004369.4(COL6A3):c.5833G>C (p.Val1945Leu)	SNV Germline	Chr2:237365703	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2188570	rs_113332380	8 SubmittersRCV000404804 RCV000585228 RCV001088919
NM_001848.3(COL6A1):c.2637C>T (p.Ser879=)	SNV Germline	Chr21:46003563	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070986	rs_540554122	3 SubmittersRCV000317171 RCV000365714 RCV001087125
NM_004369.4(COL6A3):c.1120G>A (p.Val374Met)	SNV Germline	Chr2:237387774	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189701	rs_780353083	3 SubmittersRCV000316225 RCV000526526
NM_004369.4(COL6A3):c.290G>A (p.Arg97His)	SNV Germline	Chr2:237395006	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2189895	rs_201249839	5 SubmittersRCV000295547 RCV000808592 RCV002518832
NM_001848.3(COL6A1):c.957+7G>A	SNV Germline	Chr21:45990291	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10069919	rs_764488809	2 SubmittersRCV000368267 RCV001424788
NM_001848.3(COL6A1):c.1015T>C (p.Tyr339His)	SNV Germline	Chr21:45990785	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10070036	rs_186775751	3 SubmittersRCV000319412 RCV000794729 RCV002519102
NM_001849.4(COL6A2):c.2960C>T (p.Thr987Met)	SNV Germline	Chr21:46132452	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10073115	rs_199955442	4 SubmittersRCV000312881 RCV000653564
NM_001849.4(COL6A2):c.3018G>A (p.Ala1006=)	SNV Germline	Chr21:46132510	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10073141	rs_61735832	3 SubmittersRCV000724993 RCV001087941
NM_001849.4(COL6A2):c.2935G>A (p.Asp979Asn)	SNV Germline	Chr21:46132427	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA10073105	rs_141579198	6 SubmittersRCV000353251 RCV000653559 RCV001141921
NM_004369.4(COL6A3):c.1961A>G (p.Asn654Ser)	SNV Germline	Chr2:237379172	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189505	rs_144501019	3 SubmittersRCV000281298 RCV001226883
NM_004369.4(COL6A3):c.2525T>C (p.Phe842Ser)	SNV Germline	Chr2:237377317	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A not specified	Criteria Provided Conflicting Classifications	CA2189376	rs_369930821	5 SubmittersRCV000287686 RCV001301947 RCV003330620
NM_004369.4(COL6A3):c.4662C>T (p.Asp1554=)	SNV Germline	Chr2:237368801	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2188848	rs_764225803	3 SubmittersRCV000296563 RCV001486632
NM_001849.4(COL6A2):c.1496G>A (p.Gly499Glu)	SNV Germline	Chr21:46121593	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10604094	rs_886042332	2 SubmittersRCV000388801 RCV000653599
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg)	SNV Germline	Chr21:46112374	Conflicting classifications of pathogenicity	Myosclerosis Collagen 6-related myopathy COL6A2-related disorder Condition: not provided Bethlem myopathy 1A Tip-toe gait	Criteria Provided Conflicting Classifications	CA10071315	rs_200710788	10 SubmittersRCV000329881 RCV000386454 RCV000723333 RCV000725047 RCV001257054 RCV002227938
NM_004369.4(COL6A3):c.7607C>T (p.Ala2536Val)	SNV Germline	Chr2:237344411	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A COL6A3-related disorder Ullrich congenital muscular dystrophy 1A	Criteria Provided Conflicting Classifications	CA2187767	rs_769072338	7 SubmittersRCV000328641 RCV000341324 RCV001204637 RCV004547666 RCV003137882
NM_004369.4(COL6A3):c.5953G>A (p.Val1985Met)	SNV Germline	Chr2:237363363	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2188513	rs_200478135	3 SubmittersRCV000367029 RCV000653516
NM_001849.4(COL6A2):c.2182G>A (p.Val728Met)	SNV Germline	Chr21:46125997	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Myosclerosis Condition: not provided Bethlem myopathy 1A not specified	Criteria Provided Conflicting Classifications	CA10072462	rs_200585528	6 SubmittersRCV000300120 RCV000359590 RCV000363018 RCV001085703 RCV001731555
NM_001849.4(COL6A2):c.1152G>A (p.Pro384=)	SNV Germline	Chr21:46118649	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071723	rs_148423929	2 SubmittersRCV000393107 RCV001089055
NM_001849.4(COL6A2):c.1817-8C>A	SNV Germline	Chr21:46125457	Conflicting classifications of pathogenicity	Myosclerosis Collagen 6-related myopathy Condition: not provided not specified Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10072292	rs_750444649	4 SubmittersRCV000287971 RCV000347425 RCV000366940 RCV000784948 RCV001078904
NM_004369.4(COL6A3):c.1007G>A (p.Arg336Gln)	SNV Germline	Chr2:237387887	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189728	rs_745667305	2 SubmittersRCV000354532 RCV001224663
NM_004369.4(COL6A3):c.7983C>T (p.Phe2661=)	SNV Germline	Chr2:237340933	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2187647	rs_375222168	4 SubmittersRCV000283574 RCV001469269
NM_001849.4(COL6A2):c.2536G>A (p.Glu846Lys)	SNV Germline	Chr21:46132028	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10072920	rs_772005975	4 SubmittersRCV000362949 RCV001855103
NM_001848.3(COL6A1):c.2358C>T (p.Leu786=)	SNV Germline	Chr21:46002634	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10604170	rs_886042391	2 SubmittersRCV000297131 RCV001085169
NM_004369.4(COL6A3):c.7030-4C>G	SNV Germline	Chr2:237346569	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10604176	rs_886042395	2 SubmittersRCV000377976 RCV001405636
NM_001849.4(COL6A2):c.472G>A (p.Val158Met)	SNV Germline	Chr21:46112335	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071306	rs_201792591	2 SubmittersRCV000368026 RCV002518853
NM_004369.4(COL6A3):c.958G>A (p.Ala320Thr)	SNV Germline	Chr2:237387936	Conflicting classifications of pathogenicity	Collagen 6-related myopathy not specified Bethlem myopathy 1A Dystonia 27 Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A Dystonia 27	Criteria Provided Conflicting Classifications	CA2189740	rs_115819851	5 SubmittersRCV000303951 RCV000380084 RCV000543340 RCV002295295 RCV002494822
NM_004369.4(COL6A3):c.11A>T (p.His4Leu)	SNV Germline	Chr2:237396807	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10604184	rs_777465480	2 SubmittersRCV000326714 RCV001320936
NM_001849.4(COL6A2):c.568G>A (p.Val190Met)	SNV Germline	Chr21:46112431	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Myosclerosis Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071340	rs_150877061	5 SubmittersRCV000302508 RCV000341130 RCV000386408 RCV001086405
NM_001849.4(COL6A2):c.169G>A (p.Val57Ile)	SNV Germline	Chr21:46112032	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Bethlem myopathy 1A Myosclerosis Ullrich congenital muscular dystrophy 1A	Criteria Provided Conflicting Classifications	CA10071224	rs_768434256	4 SubmittersRCV000368110 RCV001045882 RCV000764266
NM_004369.4(COL6A3):c.7113C>T (p.Gly2371=)	SNV Germline	Chr2:237345193	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2187924	rs_375729592	2 SubmittersRCV000346340 RCV001078911
NM_001848.3(COL6A1):c.1122C>T (p.Gly374=)	SNV Germline	Chr21:45992012	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A COL6A1-related disorder	Criteria Provided Conflicting Classifications	CA10070113	rs_373535692	4 SubmittersRCV000397174 RCV000702543 RCV004543005
NM_001848.3(COL6A1):c.556G>C (p.Val186Leu)	SNV Germline	Chr21:45986653	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10604197	rs_886042409	2 SubmittersRCV000322847 RCV002521881
NM_001848.3(COL6A1):c.705C>T (p.Ile235=)	SNV Germline	Chr21:45987060	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10069652	rs_536786554	2 SubmittersRCV000379675 RCV001088768
NM_004369.4(COL6A3):c.3555C>T (p.Ala1185=)	SNV Germline	Chr2:237374536	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA2189145	rs_373719229	3 SubmittersRCV000332151 RCV001434550 RCV004547668
NM_001849.4(COL6A2):c.1130G>A (p.Arg377His)	SNV Germline	Chr21:46118627	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071716	rs_148552966	4 SubmittersRCV000343634 RCV000699520
NM_001848.3(COL6A1):c.1254C>T (p.Asp418=)	SNV Germline	Chr21:45992380	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070195	rs_148630223	3 SubmittersRCV000294194 RCV000397306 RCV001081636
NM_001848.3(COL6A1):c.1022G>T (p.Gly341Val)	SNV Germline	Chr21:45990792	Pathogenic	Bethlem myopathy 1A Condition: not provided COL6A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10604208	rs_121912935	4 SubmittersRCV000267474 RCV000521707 RCV004535283
NM_001848.3(COL6A1):c.1829A>C (p.Lys610Thr)	SNV Germline	Chr21:46001259	Conflicting classifications of pathogenicity	not specified Bethlem myopathy 1A Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10070637	rs_768906709	6 SubmittersRCV000264328 RCV000691051 RCV000725110 RCV002518857
NM_004369.4(COL6A3):c.6654G>A (p.Pro2218=)	SNV Germline	Chr2:237353377	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA2188145	rs_147537071	4 SubmittersRCV000280233 RCV001080968 RCV001143144
NM_001848.3(COL6A1):c.996C>T (p.Gly332=)	SNV Germline	Chr21:45990416	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10069954	rs_11702055	4 SubmittersRCV000725117 RCV001087678
NM_004369.4(COL6A3):c.2261A>G (p.Gln754Arg)	SNV Germline	Chr2:237378872	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189440	rs_762752112	3 SubmittersRCV000382434 RCV001136988 RCV003517165
NM_004369.4(COL6A3):c.759C>T (p.Thr253=)	SNV Germline	Chr2:237388135	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189785	rs_376087730	4 SubmittersRCV000290437 RCV000298936 RCV000725119 RCV001084512
NM_004369.4(COL6A3):c.1975C>T (p.Arg659Cys)	SNV Germline	Chr2:237379158	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189504	rs_146291186	6 SubmittersRCV000319603 RCV000725122 RCV001243245
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln)	SNV Germline	Chr2:237372115	Conflicting classifications of pathogenicity	Bethlem myopathy 1A Condition: not provided Bethlem myopathy 1A Dystonia 27 Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA2189048	rs_148038440	6 SubmittersRCV000653522 RCV000725141 RCV001824721 RCV001139021
NM_004369.4(COL6A3):c.5839-3C>T	SNV Germline	Chr2:237364431	Conflicting classifications of pathogenicity	Bethlem myopathy 1A Condition: not provided Muscular dystrophy Collagen 6-related myopathy COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA2188551	rs_112825341	8 SubmittersRCV000556869 RCV000725144 RCV000993847 RCV001138822 RCV004547672
NM_004369.4(COL6A3):c.9117G>A (p.Thr3039=)	SNV Germline	Chr2:237334738	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2187356	rs_376780810	2 SubmittersRCV000259559 RCV002518863
NM_004369.4(COL6A3):c.9524T>C (p.Met3175Thr)	SNV Germline	Chr2:237324784	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Condition: not provided not specified Bethlem myopathy 1A COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA2187232	rs_148183839	8 SubmittersRCV000280523 RCV000443634 RCV000375535 RCV001089085 RCV004547673
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly)	SNV Germline	Chr21:45991037	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070083	rs_149338158	7 SubmittersRCV000272761 RCV000401661 RCV001079041
NM_004369.4(COL6A3):c.552G>A (p.Ala184=)	SNV Germline	Chr2:237394744	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189839	rs_542204130	3 SubmittersRCV000320121 RCV001078852
NM_001849.4(COL6A2):c.1963G>A (p.Glu655Lys)	SNV Germline	Chr21:46125611	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10072348	rs_771886065	2 SubmittersRCV000283767 RCV002059121
NM_001848.3(COL6A1):c.2595G>A (p.Thr865=)	SNV Germline	Chr21:46003521	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070970	rs_367832752	3 SubmittersRCV000359853 RCV000363076 RCV001089272
NM_004369.4(COL6A3):c.2864G>A (p.Arg955His)	SNV Germline	Chr2:237376978	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189307	rs_112172548	4 SubmittersRCV000347536 RCV000689418
NM_001848.3(COL6A1):c.539A>G (p.Lys180Arg)	SNV Germline	Chr21:45986636	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10069599	rs_756141940	4 SubmittersRCV000396281 RCV001140700 RCV001081124
NM_001849.4(COL6A2):c.446G>A (p.Arg149His)	SNV Germline	Chr21:46112309	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071293	rs_143891262	4 SubmittersRCV000372608 RCV001143206 RCV001070638
NM_004369.4(COL6A3):c.6930+4C>T	SNV Germline	Chr2:237348609	Conflicting classifications of pathogenicity	Bethlem myopathy 1A Condition: not provided Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA2188022	rs_375657891	5 SubmittersRCV000550179 RCV000725202 RCV001141289
NM_004369.4(COL6A3):c.2180A>C (p.Tyr727Ser)	SNV Germline	Chr2:237378953	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189462	rs_113393241	4 SubmittersRCV000286708 RCV001246875
NM_004369.4(COL6A3):c.7953G>A (p.Met2651Ile)	SNV Germline	Chr2:237340963	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2187653	rs_369537287	2 SubmittersRCV000313443 RCV001078995
NM_001849.4(COL6A2):c.1530C>T (p.Pro510=)	SNV Germline	Chr21:46122116	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071968	rs_199842179	2 SubmittersRCV000265309 RCV002059122
NM_001849.4(COL6A2):c.1609-7G>A	SNV Germline	Chr21:46122868	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10072061	rs_555312732	2 SubmittersRCV000321947 RCV001451998
NM_001849.4(COL6A2):c.2985C>T (p.Ala995=)	SNV Germline	Chr21:46132477	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Condition: not provided Myosclerosis Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10073127	rs_752243349	3 SubmittersRCV000342638 RCV000372671 RCV000398389 RCV002059124
NM_001848.3(COL6A1):c.2156C>T (p.Pro719Leu)	SNV Germline	Chr21:46002307	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070782	rs_753759904	3 SubmittersRCV000285506 RCV000329027 RCV001859574
NM_001848.3(COL6A1):c.1908C>G (p.Asp636Glu)	SNV Germline	Chr21:46001338	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10604415	rs_886042572	3 SubmittersRCV000289318 RCV000653576
NM_004369.4(COL6A3):c.1087C>T (p.Arg363Cys)	SNV Germline	Chr2:237387807	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189712	rs_759280111	3 SubmittersRCV000263531 RCV001312761
NM_001848.3(COL6A1):c.751G>A (p.Glu251Lys)	SNV Germline	Chr21:45987511	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10069713	rs_145849970	6 SubmittersRCV000344836 RCV000384249 RCV001054436
NM_001849.4(COL6A2):c.2893C>T (p.Arg965Cys)	SNV Germline	Chr21:46132385	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy Ullrich congenital muscular dystrophy 1A	Criteria Provided Conflicting Classifications	CA10073082	rs_201188174	7 SubmittersRCV000363837 RCV000653524 RCV001141920 RCV003338498
NM_004369.4(COL6A3):c.9358A>C (p.Thr3120Pro)	SNV Germline	Chr2:237325695	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA2187284	rs_141050617	5 SubmittersRCV000329137 RCV000795886 RCV004547678
NM_004369.4(COL6A3):c.1216C>T (p.Arg406Cys)	SNV Germline	Chr2:237387678	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Condition: not provided COL6A3-related phenotype Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189681	rs_112817175	6 SubmittersRCV000294221 RCV000308759 RCV000984978 RCV001052126
NM_001849.4(COL6A2):c.2361G>A (p.Thr787=)	SNV Germline	Chr21:46126176	Conflicting classifications of pathogenicity	not specified Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA10604450	rs_566966690	3 SubmittersRCV000384792 RCV001087272 RCV000725249
NM_001849.4(COL6A2):c.828G>A (p.Pro276=)	SNV Germline	Chr21:46115898	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071484	rs_140790797	2 SubmittersRCV000334522 RCV001086551
NM_004369.4(COL6A3):c.936C>T (p.Leu312=)	SNV Germline	Chr2:237387958	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189743	rs_377629176	2 SubmittersRCV000402653 RCV001079095
NM_004369.4(COL6A3):c.1217G>A (p.Arg406His)	SNV Germline	Chr2:237387677	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189680	rs_753651742	2 SubmittersRCV000404558 RCV001855121
NM_001849.4(COL6A2):c.84G>A (p.Pro28=)	SNV Germline	Chr21:46111560	Conflicting classifications of pathogenicity	Myosclerosis not specified Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A COL6A2-related disorder	Criteria Provided Conflicting Classifications	CA10071173	rs_140890046	5 SubmittersRCV000289005 RCV000387663 RCV000381103 RCV000725254 RCV001087725 RCV004543021
NM_004369.4(COL6A3):c.9209A>G (p.Tyr3070Cys)	SNV Germline	Chr2:237334646	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2187330	rs_368568929	3 SubmittersRCV000349824 RCV000689510
NM_001849.4(COL6A2):c.1269+7C>T	SNV Germline	Chr21:46119126	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071794	rs_751071208	2 SubmittersRCV000352654 RCV003631102
NM_001848.3(COL6A1):c.2910C>T (p.Phe970=)	SNV Germline	Chr21:46003836	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071070	rs_759623301	2 SubmittersRCV000310320 RCV001399269
NM_001848.3(COL6A1):c.2875G>A (p.Val959Met)	SNV Germline	Chr21:46003801	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA10071058	rs_200959957	4 SubmittersRCV000274997 RCV000553291 RCV000393046
NM_004369.4(COL6A3):c.4065G>A (p.Pro1355=)	SNV Germline	Chr2:237371952	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189002	rs_766856187	2 SubmittersRCV000340797 RCV003517167
NM_001848.3(COL6A1):c.784C>T (p.Arg262Trp)	SNV Germline	Chr21:45987634	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10069750	rs_752259110	3 SubmittersRCV000399914 RCV002518884
NM_004369.4(COL6A3):c.1623C>T (p.Ala541=)	SNV Germline	Chr2:237381189	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA2189578	rs_114144694	6 SubmittersRCV000309895 RCV000329710 RCV001082018 RCV004547683
NM_001849.4(COL6A2):c.2798G>A (p.Arg933His)	SNV Germline	Chr21:46132290	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA10073026	rs_374384263	4 SubmittersRCV000276018 RCV000553120 RCV001139298
NM_001848.3(COL6A1):c.914G>A (p.Gly305Glu)	SNV Germline	Chr21:45989762	Pathogenic/Likely pathogenic	Condition: not provided Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA10604561	rs_886042684	3 SubmittersRCV000272645 RCV001379719
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg)	SNV Germline	Chr21:45998425	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy not specified	Criteria Provided Conflicting Classifications	CA10070437	rs_764556767	4 SubmittersRCV000293620 RCV000402786 RCV001563598 RCV003479091
NM_004369.4(COL6A3):c.1263C>T (p.Gly421=)	SNV Germline	Chr2:237387631	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA2189672	rs_775821966	3 SubmittersRCV000309764 RCV001082727 RCV001137102
NM_001848.3(COL6A1):c.2285T>C (p.Phe762Ser)	SNV Germline	Chr21:46002561	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10604568	rs_886042688	3 SubmittersRCV000274606 RCV001855128
NM_004369.4(COL6A3):c.8978G>A (p.Arg2993His)	SNV Germline	Chr2:237334877	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A not specified COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA2187389	rs_201888442	6 SubmittersRCV000658012 RCV001082829 RCV003488497 RCV004547684
NM_001848.3(COL6A1):c.666C>T (p.Arg222=)	SNV Germline	Chr21:45987021	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10069646	rs_372581026	4 SubmittersRCV000725328 RCV001085391
NM_001849.4(COL6A2):c.901G>A (p.Gly301Ser)	SNV Germline	Chr21:46116377	Pathogenic	Condition: not provided Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA10604587	rs_886042705	3 SubmittersRCV000337509 RCV002518892
NM_001848.3(COL6A1):c.763G>A (p.Ala255Thr)	SNV Germline	Chr21:45987613	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10069743	rs_145473829	3 SubmittersRCV000276804 RCV000704001
NM_001849.4(COL6A2):c.1332+10C>T	SNV Germline	Chr21:46119860	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10604632	rs_886042745	2 SubmittersRCV000380258 RCV001088912
NM_004369.4(COL6A3):c.9130G>A (p.Val3044Ile)	SNV Germline	Chr2:237334725	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2187351	rs_374628435	3 SubmittersRCV000356914 RCV001242146 RCV003165732
NM_001849.4(COL6A2):c.786C>G (p.Gly262=)	SNV Germline	Chr21:46114058	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071454	rs_145500808	3 SubmittersRCV000287924 RCV001504105
NM_004369.4(COL6A3):c.8256G>A (p.Leu2752=)	SNV Germline	Chr2:237340660	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA2187589	rs_769124771	3 SubmittersRCV000330418 RCV002059143 RCV004547685
NM_001849.4(COL6A2):c.1060G>A (p.Asp354Asn)	SNV Germline	Chr21:46117880	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A COL6A2-related disorder	Criteria Provided Conflicting Classifications	CA10071676	rs_188184732	4 SubmittersRCV000280808 RCV000821673 RCV004535311
NM_001848.3(COL6A1):c.1437C>T (p.Gly479=)	SNV Germline	Chr21:45997459	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A COL6A1-related disorder	Criteria Provided Conflicting Classifications	CA10070301	rs_762625409	5 SubmittersRCV000338149 RCV001043855 RCV004543036
NM_004369.4(COL6A3):c.6817-6G>A	SNV Germline	Chr2:237350215	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10604667	rs_886042773	2 SubmittersRCV000364851 RCV003631103
NM_004369.4(COL6A3):c.9180C>G (p.Cys3060Trp)	SNV Germline	Chr2:237334675	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2187338	rs_376939353	3 SubmittersRCV000339597 RCV001364006
NM_004369.4(COL6A3):c.2219G>A (p.Arg740His)	SNV Germline	Chr2:237378914	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189453	rs_529827991	2 SubmittersRCV000406679 RCV000793471
NM_001848.3(COL6A1):c.623C>T (p.Thr208Met)	SNV Germline	Chr21:45986978	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10069636	rs_372199631	5 SubmittersRCV000379600 RCV000694197 RCV001142578 RCV004021149
NM_004369.4(COL6A3):c.8636C>T (p.Thr2879Met)	SNV Germline	Chr2:237336464	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA2187481	rs_150907698	6 SubmittersRCV000312116 RCV000558809 RCV000725390
NM_001848.3(COL6A1):c.525T>A (p.Ala175=)	SNV Germline	Chr21:45986622	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10069596	rs_761552446	2 SubmittersRCV000270567 RCV002518907
NM_001848.3(COL6A1):c.1043C>T (p.Ser348Leu)	SNV Germline	Chr21:45990813	Conflicting classifications of pathogenicity	Collagen 6-related myopathy not specified Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA10070040	rs_142882745	6 SubmittersRCV000267314 RCV000323225 RCV000653553 RCV000725393
NM_001849.4(COL6A2):c.2433C>T (p.Ile811=)	SNV Germline	Chr21:46126513	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10072620	rs_776788517	2 SubmittersRCV000281842 RCV002059146
NM_004369.4(COL6A3):c.3199G>A (p.Val1067Met)	SNV Germline	Chr2:237374892	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2189218	rs_148175795	6 SubmittersRCV000390311 RCV000692494 RCV001329868 RCV004021151
NM_004369.4(COL6A3):c.843G>T (p.Val281=)	SNV Germline	Chr2:237388051	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189765	rs_376201065	3 SubmittersRCV000267201 RCV001079541
NM_001848.3(COL6A1):c.2890C>T (p.Arg964Trp)	SNV Germline	Chr21:46003816	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10071064	rs_375007666	4 SubmittersRCV000306204 RCV000803200 RCV003352820
NM_001848.3(COL6A1):c.2662C>T (p.Arg888Trp)	SNV Germline	Chr21:46003588	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10070995	rs_368307185	6 SubmittersRCV000296391 RCV000326450 RCV001206342 RCV002519143
NM_004369.4(COL6A3):c.7645C>A (p.Arg2549=)	SNV Germline	Chr2:237344373	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA2187758	rs_151079701	3 SubmittersRCV000367299 RCV001084883 RCV004547686
NM_001848.3(COL6A1):c.356C>T (p.Ala119Val)	SNV Germline	Chr21:45984397	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10069545	rs_571641824	2 SubmittersRCV000327710 RCV000559973
NM_004369.4(COL6A3):c.4448A>T (p.Asp1483Val)	SNV Germline	Chr2:237369015	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2188893	rs_114736729	3 SubmittersRCV000396878 RCV001041627
NM_001848.3(COL6A1):c.1352A>G (p.Gln451Arg)	SNV Germline	Chr21:45994183	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070260	rs_764235653	3 SubmittersRCV000328793 RCV001855140
NM_004369.4(COL6A3):c.3045A>G (p.Ser1015=)	SNV Germline	Chr2:237376797	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10604747	rs_886042836	2 SubmittersRCV000385097 RCV001500521
NM_001848.3(COL6A1):c.1233C>T (p.Asp411=)	SNV Germline	Chr21:45992214	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070165	rs_140478280	2 SubmittersRCV000381187 RCV001078535
NM_004369.4(COL6A3):c.6354+1G>T	SNV Germline	Chr2:237359205	Pathogenic	Condition: not provided Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA10604809	rs_886042883	2 SubmittersRCV000305531 RCV001859603
NM_004369.4(COL6A3):c.3852C>A (p.Phe1284Leu)	SNV Germline	Chr2:237372165	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189059	rs_148561729	4 SubmittersRCV000343308 RCV000385431 RCV000653569
NM_004369.4(COL6A3):c.3699C>T (p.Asp1233=)	SNV Germline	Chr2:237372318	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189094	rs_542411896	4 SubmittersRCV000308404 RCV001088130
NM_001848.3(COL6A1):c.1602C>T (p.Pro534=)	SNV Germline	Chr21:45998424	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070435	rs_143755280	3 SubmittersRCV000362676 RCV000553483
NM_001848.3(COL6A1):c.325G>A (p.Gly109Ser)	SNV Germline	Chr21:45984366	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10604838	rs_368580280	2 SubmittersRCV000369448 RCV000653515
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys)	SNV Germline	Chr2:237361132	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A	Criteria Provided Conflicting Classifications	CA2188419	rs_760446904	8 SubmittersRCV000494333 RCV000817700 RCV002227468
NM_001849.4(COL6A2):c.1489C>A (p.Pro497Thr)	SNV Germline	Chr21:46121586	Conflicting classifications of pathogenicity	Myosclerosis Collagen 6-related myopathy not specified Condition: not provided Bethlem myopathy 1A COL6A2-related disorder	Criteria Provided Conflicting Classifications	CA10071916	rs_75581470	5 SubmittersRCV000270832 RCV000325923 RCV000329762 RCV000766751 RCV001087788 RCV004543048
NM_001848.3(COL6A1):c.2803G>A (p.Ala935Thr)	SNV Germline	Chr21:46003729	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071038	rs_766416007	2 SubmittersRCV000384266 RCV000799758
NM_001848.3(COL6A1):c.930+1G>A	SNV Germline	Chr21:45989779	Pathogenic/Likely pathogenic	Condition: not provided Bethlem myopathy 1A COL6A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10604839	rs_886042902	3 SubmittersRCV000341706 RCV001390831 RCV004535324
NM_001848.3(COL6A1):c.285C>G (p.Asp95Glu)	SNV Germline	Chr21:45984326	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10069517	rs_145811554	3 SubmittersRCV000375024 RCV000694699
NM_001848.3(COL6A1):c.957+6C>G	SNV Germline	Chr21:45990290	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10604845	rs_374926748	2 SubmittersRCV000344844 RCV001219815
NM_004369.4(COL6A3):c.6898G>A (p.Gly2300Arg)	SNV Germline	Chr2:237348645	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2188030	rs_763348222	3 SubmittersRCV000286359 RCV000538135
NM_001849.4(COL6A2):c.1828C>T (p.Arg610Cys)	SNV Germline	Chr21:46125476	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10072303	rs_748283415	3 SubmittersRCV000299418 RCV001855143
NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg)	SNV Germline	Chr21:46126012	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Myosclerosis Ullrich congenital muscular dystrophy 1A Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10604873	rs_886042922	8 SubmittersRCV000337022 RCV000477924 RCV001303665 RCV001265687
NM_001849.4(COL6A2):c.785G>A (p.Gly262Asp)	SNV Germline	Chr21:46114057	Pathogenic	Condition: not provided Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA10604901	rs_886042943	3 SubmittersRCV000384759 RCV001216066
NM_004369.4(COL6A3):c.3445C>T (p.Arg1149Trp)	SNV Germline	Chr2:237374646	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA2189167	rs_113360085	6 SubmittersRCV000405233 RCV000689188 RCV000725525
NM_004369.4(COL6A3):c.6897C>T (p.Asp2299=)	SNV Germline	Chr2:237348646	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2188031	rs_764508785	2 SubmittersRCV000326108 RCV002518948
NM_004369.4(COL6A3):c.1214T>C (p.Phe405Ser)	SNV Germline	Chr2:237387680	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189682	rs_114549120	3 SubmittersRCV000363238 RCV001083457
NM_004369.4(COL6A3):c.7832C>T (p.Ala2611Val)	SNV Germline	Chr2:237341084	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA2187688	rs_114806654	3 SubmittersRCV000265030 RCV001068819 RCV001141187
NM_001849.4(COL6A2):c.672C>T (p.Thr224=)	SNV Germline	Chr21:46112535	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071370	rs_759388890	2 SubmittersRCV000259339 RCV001078558
NM_004369.4(COL6A3):c.6193G>C (p.Gly2065Arg)	SNV Germline	Chr2:237361138	Pathogenic/Likely pathogenic	Condition: not provided Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA10604911	rs_397515332	2 SubmittersRCV000329760 RCV000653528
NM_004369.4(COL6A3):c.7749G>A (p.Thr2583=)	SNV Germline	Chr2:237342081	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2187715	rs_758582935	3 SubmittersRCV000327744 RCV000556243
NM_001849.4(COL6A2):c.2882C>T (p.Ala961Val)	SNV Germline	Chr21:46132374	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A COL6A2-related disorder	Criteria Provided Conflicting Classifications	CA10073076	rs_138674440	4 SubmittersRCV000371289 RCV001086987 RCV004543053
NM_001849.4(COL6A2):c.2661G>A (p.Glu887=)	SNV Germline	Chr21:46132153	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Myosclerosis Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10072969	rs_148249892	3 SubmittersRCV000266261 RCV000358384 RCV000373659 RCV001086941
NM_004369.4(COL6A3):c.8376C>T (p.Asp2792=)	SNV Germline	Chr2:237340540	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2187567	rs_772967228	3 SubmittersRCV000317467 RCV003517169
NM_001848.3(COL6A1):c.717+4A>G	SNV Germline	Chr21:45987076	Conflicting classifications of pathogenicity	Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA10069654	rs_762867111	6 SubmittersRCV000653543 RCV000725541
NM_001848.3(COL6A1):c.1096G>A (p.Ala366Thr)	SNV Germline	Chr21:45991018	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070079	rs_183994910	4 SubmittersRCV000287896 RCV001140826 RCV002518949
NM_001848.3(COL6A1):c.1957-4A>G	SNV Germline	Chr21:46001957	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070698	rs_184484842	2 SubmittersRCV000401866 RCV001086720
NM_004369.4(COL6A3):c.5822C>T (p.Ser1941Leu)	SNV Germline	Chr2:237365714	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2188574	rs_778288464	2 SubmittersRCV000400649 RCV002521927
NM_004369.4(COL6A3):c.6312C>T (p.Gly2104=)	SNV Germline	Chr2:237359248	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2188338	rs_377074792	3 SubmittersRCV000314936 RCV001346967
NM_001848.3(COL6A1):c.2873C>A (p.Ala958Asp)	SNV Germline	Chr21:46003799	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071056	rs_763228065	5 SubmittersRCV000378705 RCV000816415
NM_001848.3(COL6A1):c.1814-8C>T	SNV Germline	Chr21:46000751	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070600	rs_777017599	2 SubmittersRCV000325281 RCV001471056
NM_001849.4(COL6A2):c.981C>T (p.Asn327=)	SNV Germline	Chr21:46116796	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071599	rs_768836349	3 SubmittersRCV000351072 RCV001086943
NM_004369.4(COL6A3):c.1022G>A (p.Arg341His)	SNV Germline	Chr2:237387872	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189721	rs_140510298	5 SubmittersRCV000313136 RCV001139348 RCV001859611
NM_004369.4(COL6A3):c.3499A>T (p.Ile1167Phe)	SNV Germline	Chr2:237374592	Conflicting classifications of pathogenicity	Condition: not provided Dystonia 27 Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10604971	rs_886042996	4 SubmittersRCV000367831 RCV000765644 RCV002518954
NM_004369.4(COL6A3):c.8270G>C (p.Arg2757Thr)	SNV Germline	Chr2:237340646	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2187585	rs_746608405	5 SubmittersRCV000401683 RCV001138189 RCV001360027 RCV003372676
NM_004369.4(COL6A3):c.3228C>G (p.Thr1076=)	SNV Germline	Chr2:237374863	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10604972	rs_886042997	2 SubmittersRCV000314116 RCV002519163
NM_001849.4(COL6A2):c.2556C>T (p.Ala852=)	SNV Germline	Chr21:46132048	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10072924	rs_148404291	2 SubmittersRCV000265780 RCV002059165
NM_001849.4(COL6A2):c.*5G>A	SNV Germline	Chr21:46132557	Conflicting classifications of pathogenicity	Myosclerosis Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10073165	rs_377195134	4 SubmittersRCV000261412 RCV000318994 RCV000326800 RCV001007855
NM_001849.4(COL6A2):c.729C>T (p.Tyr243=)	SNV Germline	Chr21:46112818	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071420	rs_200824569	2 SubmittersRCV000336271 RCV002519166
NM_004369.4(COL6A3):c.776C>T (p.Ala259Val)	SNV Germline	Chr2:237388118	Conflicting classifications of pathogenicity	Collagen 6-related myopathy not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189778	rs_149924028	6 SubmittersRCV000300486 RCV000311736 RCV000725577 RCV000820873
NM_004369.4(COL6A3):c.8243C>T (p.Pro2748Leu)	SNV Germline	Chr2:237340673	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2187592	rs_115595706	4 SubmittersRCV000267267 RCV000287956 RCV000701627
NM_004369.4(COL6A3):c.1350G>A (p.Val450=)	SNV Germline	Chr2:237381462	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10604986	rs_886043010	3 SubmittersRCV000345310 RCV003631106
NM_001848.3(COL6A1):c.667G>A (p.Asp223Asn)	SNV Germline	Chr21:45987022	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A not specified	Criteria Provided Conflicting Classifications	CA10069647	rs_199842980	5 SubmittersRCV000725579 RCV001240408 RCV001192867
NM_001848.3(COL6A1):c.2765A>G (p.Tyr922Cys)	SNV Germline	Chr21:46003691	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10604987	rs_886043011	3 SubmittersRCV000378077 RCV002518957
NM_001848.3(COL6A1):c.311C>T (p.Thr104Met)	SNV Germline	Chr21:45984352	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10069523	rs_781396484	4 SubmittersRCV000336707 RCV002518958
NM_001848.3(COL6A1):c.1708G>A (p.Ala570Thr)	SNV Germline	Chr21:45999186	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070494	rs_144358858	5 SubmittersRCV000308502 RCV001086048
NM_001849.4(COL6A2):c.2904C>T (p.Asn968=)	SNV Germline	Chr21:46132396	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10073086	rs_143569686	2 SubmittersRCV000333624 RCV001395296
NM_004369.4(COL6A3):c.5680C>T (p.Pro1894Ser)	SNV Germline	Chr2:237365856	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2188606	rs_112540218	3 SubmittersRCV000406654 RCV000701359
NM_001849.4(COL6A2):c.2907G>A (p.Val969=)	SNV Germline	Chr21:46132399	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10073088	rs_138004735	2 SubmittersRCV000370084 RCV001506229
NM_004369.4(COL6A3):c.774C>T (p.Phe258=)	SNV Germline	Chr2:237388120	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189779	rs_766589204	2 SubmittersRCV000342629 RCV001450620
NM_004369.4(COL6A3):c.9005A>G (p.Glu3002Gly)	SNV Germline	Chr2:237334850	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2187384	rs_747642083	2 SubmittersRCV000276298 RCV002521932
NM_001849.4(COL6A2):c.791G>A (p.Arg264His)	SNV Germline	Chr21:46114063	Conflicting classifications of pathogenicity	Myosclerosis Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071456	rs_148029276	9 SubmittersRCV000286457 RCV000339179 RCV000513122 RCV000551936
NM_004369.4(COL6A3):c.5634C>T (p.Ser1878=)	SNV Germline	Chr2:237365902	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2188622	rs_770825082	2 SubmittersRCV000305350 RCV001436303
NM_001849.4(COL6A2):c.1129C>T (p.Arg377Cys)	SNV Germline	Chr21:46118626	Conflicting classifications of pathogenicity	not specified Bethlem myopathy 1A Condition: not provided COL6A2-related disorder	Criteria Provided Conflicting Classifications	CA10071715	rs_144801620	5 SubmittersRCV000314635 RCV000653674 RCV002274976 RCV004543063
NM_001848.3(COL6A1):c.2856C>T (p.Pro952=)	SNV Germline	Chr21:46003782	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA10071052	rs_140427635	4 SubmittersRCV000725617 RCV001078523 RCV001142992
NM_001849.4(COL6A2):c.955-10C>T	SNV Germline	Chr21:46116760	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071592	rs_751105293	2 SubmittersRCV000323801 RCV002059171
NM_004369.4(COL6A3):c.7849G>A (p.Asp2617Asn)	SNV Germline	Chr2:237341067	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA2187679	rs_138285547	6 SubmittersRCV000333005 RCV001087869 RCV001141186 RCV004547695
NM_004369.4(COL6A3):c.6768C>T (p.Ala2256=)	SNV Germline	Chr2:237351178	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2188089	rs_550085228	2 SubmittersRCV000389885 RCV001485775
NM_004369.4(COL6A3):c.2232G>A (p.Pro744=)	SNV Germline	Chr2:237378901	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189448	rs_368826874	2 SubmittersRCV000327187 RCV002521934
NM_004369.4(COL6A3):c.3507C>T (p.Asn1169=)	SNV Germline	Chr2:237374584	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA2189153	rs_138426138	5 SubmittersRCV000286606 RCV000725632 RCV001454599 RCV001143452
NM_001849.4(COL6A2):c.188C>T (p.Thr63Met)	SNV Germline	Chr21:46112051	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071227	rs_201094892	5 SubmittersRCV000337273 RCV001223613
NM_001848.3(COL6A1):c.2800G>A (p.Ala934Thr)	SNV Germline	Chr21:46003726	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10071037	rs_147716407	4 SubmittersRCV000325487 RCV001212841 RCV003165743
NM_004369.4(COL6A3):c.9494-10C>T	SNV Germline	Chr2:237324824	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA2187242	rs_184617787	6 SubmittersRCV000340262 RCV000725664 RCV001081267 RCV004547698
NM_001849.4(COL6A2):c.2751G>A (p.Val917=)	SNV Germline	Chr21:46132243	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10073006	rs_111341650	2 SubmittersRCV000282777 RCV001859619
NM_001848.3(COL6A1):c.2553C>T (p.Phe851=)	SNV Germline	Chr21:46003479	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070955	rs_370632963	2 SubmittersRCV000367642 RCV001088630
NM_004369.4(COL6A3):c.3205G>A (p.Val1069Met)	SNV Germline	Chr2:237374886	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2189216	rs_115297652	5 SubmittersRCV000259898 RCV000274489 RCV000653619 RCV003165744
NM_001849.4(COL6A2):c.2998A>G (p.Lys1000Glu)	SNV Germline	Chr21:46132490	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10073133	rs_151244310	6 SubmittersRCV000725669 RCV001055469 RCV002518968
NM_004369.4(COL6A3):c.7174G>A (p.Gly2392Arg)	SNV Germline	Chr2:237344941	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2187878	rs_773673162	4 SubmittersRCV000329071 RCV001054907
NM_004369.4(COL6A3):c.5118C>T (p.Ile1706=)	SNV Germline	Chr2:237367069	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2188742	rs_766291321	2 SubmittersRCV000290715 RCV002521938
NM_004369.4(COL6A3):c.5394C>T (p.Arg1798=)	SNV Germline	Chr2:237366793	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2188677	rs_202086524	3 SubmittersRCV000362415 RCV001087097
NM_004369.4(COL6A3):c.4047C>T (p.Asp1349=)	SNV Germline	Chr2:237371970	Conflicting classifications of pathogenicity	Collagen 6-related myopathy not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189008	rs_115893145	5 SubmittersRCV000260455 RCV000273883 RCV000725694 RCV001085152
NM_001849.4(COL6A2):c.2922G>A (p.Leu974=)	SNV Germline	Chr21:46132414	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A COL6A2-related disorder	Criteria Provided Conflicting Classifications	CA10073096	rs_556385546	3 SubmittersRCV000316296 RCV000821145 RCV004535353
NM_004369.4(COL6A3):c.107C>T (p.Ala36Val)	SNV Germline	Chr2:237395189	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189934	rs_572020866	3 SubmittersRCV000401106 RCV000653565
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile)	SNV Germline	Chr2:237374973	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Bethlem myopathy 1A Condition: not provided Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A Dystonia 27 Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA2189239	rs_78427077	6 SubmittersRCV000324975 RCV000697460 RCV000725699 RCV001535515
NM_004369.4(COL6A3):c.1394G>A (p.Arg465Gln)	SNV Germline	Chr2:237381418	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189629	rs_781231935	2 SubmittersRCV000298554 RCV001228546
NM_001848.3(COL6A1):c.424G>C (p.Val142Leu)	SNV Germline	Chr21:45984465	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10069562	rs_144282452	2 SubmittersRCV000314929 RCV001088542
NM_001848.3(COL6A1):c.409C>G (p.Leu137Val)	SNV Germline	Chr21:45984450	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10069556	rs_139648899	2 SubmittersRCV000274990 RCV001088541
NM_004369.4(COL6A3):c.3754C>T (p.Arg1252Cys)	SNV Germline	Chr2:237372263	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189082	rs_563530370	4 SubmittersRCV000365975 RCV001064513
NM_001849.4(COL6A2):c.1359C>T (p.Arg453=)	SNV Germline	Chr21:46120541	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071843	rs_750842859	4 SubmittersRCV000378532 RCV001136744 RCV001409461
NM_004369.4(COL6A3):c.6798C>T (p.Thr2266=)	SNV Germline	Chr2:237351148	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA2188082	rs_116541926	5 SubmittersRCV000320475 RCV000725709 RCV001088225 RCV001143143
NM_001848.3(COL6A1):c.348C>T (p.Ser116=)	SNV Germline	Chr21:45984389	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10069541	rs_189444981	4 SubmittersRCV000404119 RCV000725717 RCV001410333
NM_004369.4(COL6A3):c.3008G>A (p.Gly1003Glu)	SNV Germline	Chr2:237376834	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189272	rs_775536678	3 SubmittersRCV000329391 RCV001048907
NM_004369.4(COL6A3):c.5575G>A (p.Glu1859Lys)	SNV Germline	Chr2:237365961	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10605207	rs_886043180	3 SubmittersRCV000360053 RCV001855157 RCV003278739
NM_004369.4(COL6A3):c.5968C>T (p.Arg1990Trp)	SNV Germline	Chr2:237363348	Conflicting classifications of pathogenicity	Collagen 6-related myopathy not specified Congenital contracture Bethlem myopathy 1A Condition: not provided COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA2188511	rs_146546544	7 SubmittersRCV000291553 RCV000301747 RCV000449495 RCV000538324 RCV003430820 RCV004547703
NM_001849.4(COL6A2):c.1012C>T (p.Arg338Cys)	SNV Germline	Chr21:46117412	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10071631	rs_775751831	5 SubmittersRCV000370445 RCV000812303 RCV002519190
NM_001849.4(COL6A2):c.1053+1G>A	SNV Germline	Chr21:46117454	Pathogenic	Condition: not provided Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA10605216	rs_886043187	2 SubmittersRCV000270748 RCV001855158
NM_001849.4(COL6A2):c.2785G>A (p.Val929Met)	SNV Germline	Chr21:46132277	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy Ullrich congenital muscular dystrophy 1A	Criteria Provided Conflicting Classifications	CA10073022	rs_145527336	6 SubmittersRCV000286874 RCV000653507 RCV001139297 RCV001330654
NM_001849.4(COL6A2):c.332C>T (p.Pro111Leu)	SNV Germline	Chr21:46112195	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Condition: not provided Myosclerosis Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071263	rs_747184649	5 SubmittersRCV000305547 RCV000338896 RCV000406254 RCV001347096
NM_001849.4(COL6A2):c.2083G>A (p.Glu695Lys)	SNV Germline	Chr21:46125898	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA10072438	rs_377376395	4 SubmittersRCV000363352 RCV000653539 RCV001141703
NM_001849.4(COL6A2):c.2656G>A (p.Gly886Ser)	SNV Germline	Chr21:46132148	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10072967	rs_571488000	3 SubmittersRCV000265343 RCV000702321
NM_001848.3(COL6A1):c.2148G>A (p.Pro716=)	SNV Germline	Chr21:46002299	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070781	rs_780032842	3 SubmittersRCV000725727 RCV001452039
NM_004369.4(COL6A3):c.6354+1G>A	SNV Germline	Chr2:237359205	Pathogenic/Likely pathogenic	Bethlem myopathy 1A Condition: not provided Inborn genetic diseases Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A	Criteria Provided Multiple Submitters No Conflicts	CA10605229	rs_886042883	6 SubmittersRCV000319175 RCV000578834 RCV000622451 RCV001249572
NM_004369.4(COL6A3):c.1385A>G (p.Asn462Ser)	SNV Germline	Chr2:237381427	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189630	rs_200250810	3 SubmittersRCV000337261 RCV000544280
NM_001848.3(COL6A1):c.1092C>T (p.Pro364=)	SNV Germline	Chr21:45991014	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070077	rs_368088970	2 SubmittersRCV000350384 RCV002059186
NM_001848.3(COL6A1):c.2165G>A (p.Arg722His)	SNV Germline	Chr21:46002316	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070785	rs_758242849	4 SubmittersRCV000318484 RCV001368237
NM_004369.4(COL6A3):c.6342G>A (p.Leu2114=)	SNV Germline	Chr2:237359218	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10605314	rs_886043269	2 SubmittersRCV000317135 RCV001216269
NM_001849.4(COL6A2):c.736-7G>A	SNV Germline	Chr21:46114001	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071446	rs_375288629	2 SubmittersRCV000407705 RCV001089285
NM_004369.4(COL6A3):c.3331G>A (p.Ala1111Thr)	SNV Germline	Chr2:237374760	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2189184	rs_151021451	5 SubmittersRCV000725760 RCV000801843 RCV002519202
NM_004369.4(COL6A3):c.4900+9C>T	SNV Germline	Chr2:237368554	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A COL6A3-related disorder Dystonia 27	Criteria Provided Conflicting Classifications	CA2188785	rs_117345850	7 SubmittersRCV000306414 RCV000389136 RCV000725761 RCV001084936 RCV004547705 RCV002298564
NM_004369.4(COL6A3):c.2497+9C>T	SNV Germline	Chr2:237378627	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10605324	rs_774198344	2 SubmittersRCV000271100 RCV003517171
NM_001848.3(COL6A1):c.1539C>T (p.Pro513=)	SNV Germline	Chr21:45998135	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070393	rs_150834054	2 SubmittersRCV000276960 RCV001458191
NM_001848.3(COL6A1):c.2147C>T (p.Pro716Leu)	SNV Germline	Chr21:46002298	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A Ullrich congenital muscular dystrophy 1A Inborn genetic diseases Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070780	rs_755589190	6 SubmittersRCV000407281 RCV000660511 RCV001328889 RCV002519203 RCV002521945
NM_004369.4(COL6A3):c.8632A>G (p.Thr2878Ala)	SNV Germline	Chr2:237336468	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2187486	rs_761653490	4 SubmittersRCV000289268 RCV000350575 RCV000687574
NM_001848.3(COL6A1):c.261C>T (p.Asn87=)	SNV Germline	Chr21:45984302	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10069510	rs_770671793	3 SubmittersRCV000309226 RCV000368701 RCV001426013
NM_001849.4(COL6A2):c.1522-9C>T	SNV Germline	Chr21:46122099	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071961	rs_371576207	3 SubmittersRCV000382914 RCV001423764
NM_004369.4(COL6A3):c.4510C>A (p.Arg1504=)	SNV Germline	Chr2:237368953	Conflicting classifications of pathogenicity	Bethlem myopathy 1A Condition: not provided COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA2188877	rs_144223596	3 SubmittersRCV000548245 RCV000407676 RCV004547706
NM_004369.4(COL6A3):c.9394C>T (p.Pro3132Ser)	SNV Germline	Chr2:237325659	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2187278	rs_147533489	5 SubmittersRCV000361739 RCV001228671 RCV001142818 RCV004021189
NM_001848.3(COL6A1):c.2733C>T (p.Asn911=)	SNV Germline	Chr21:46003659	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071016	rs_144585693	2 SubmittersRCV000325176 RCV001466641
NM_001849.4(COL6A2):c.2659G>A (p.Glu887Lys)	SNV Germline	Chr21:46132151	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10605333	rs_886043283	3 SubmittersRCV000330968 RCV000800722
NM_004369.4(COL6A3):c.6132G>T (p.Gly2044=)	SNV Germline	Chr2:237361763	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA2188456	rs_762950440	4 SubmittersRCV000295669 RCV000725768 RCV001080018 RCV004547707
NM_001848.3(COL6A1):c.2464+9C>T	SNV Germline	Chr21:46003158	Conflicting classifications of pathogenicity	not specified Bethlem myopathy 1A Condition: not provided COL6A1-related disorder	Criteria Provided Conflicting Classifications	CA10070905	rs_368651226	4 SubmittersRCV000278479 RCV000528678 RCV000725770 RCV004543073
NM_004369.4(COL6A3):c.5652C>T (p.Thr1884=)	SNV Germline	Chr2:237365884	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2188615	rs_200285455	4 SubmittersRCV000298917 RCV000365087 RCV001085464
NM_001849.4(COL6A2):c.492C>T (p.His164=)	SNV Germline	Chr21:46112355	Conflicting classifications of pathogenicity	Myosclerosis Collagen 6-related myopathy not specified Bethlem myopathy 1A Condition: not provided COL6A2-related disorder	Criteria Provided Conflicting Classifications	CA10071311	rs_140929054	6 SubmittersRCV000327665 RCV000365882 RCV000372828 RCV001082800 RCV000725775 RCV004535358
NM_001848.3(COL6A1):c.726C>T (p.Asn242=)	SNV Germline	Chr21:45987163	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A COL6A1-related disorder	Criteria Provided Conflicting Classifications	CA10069674	rs_142102852	4 SubmittersRCV000352696 RCV001087836 RCV004543075
NM_004369.4(COL6A3):c.3501C>T (p.Ile1167=)	SNV Germline	Chr2:237374590	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189155	rs_199998363	2 SubmittersRCV000324842 RCV002059193
NM_001848.3(COL6A1):c.1021G>T (p.Gly341Cys)	SNV Germline	Chr21:45990791	Pathogenic	Condition: not provided Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA10605376	rs_886043321	3 SubmittersRCV000379396 RCV000801381
NM_001849.4(COL6A2):c.838G>C (p.Gly280Arg)	SNV Germline	Chr21:46115908	Pathogenic/Likely pathogenic	Bethlem myopathy 1A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10605378	rs_886043323	2 SubmittersRCV000389013 RCV000725795
NM_004369.4(COL6A3):c.6519C>T (p.Thr2173=)	SNV Germline	Chr2:237357835	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2188246	rs_776493521	2 SubmittersRCV000262259 RCV001467177
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val)	SNV Germline	Chr2:237371896	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A	Criteria Provided Conflicting Classifications	CA2188989	rs_766488017	6 SubmittersRCV000353475 RCV000625838 RCV003338503
NM_004369.4(COL6A3):c.4726C>T (p.Arg1576Trp)	SNV Germline	Chr2:237368737	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2188823	rs_773979979	3 SubmittersRCV000285182 RCV001855167
NM_004369.4(COL6A3):c.8805G>A (p.Ala2935=)	SNV Germline	Chr2:237336295	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2187440	rs_200111289	3 SubmittersRCV000302928 RCV002059194
NM_001848.3(COL6A1):c.1003-1G>A	SNV Germline	Chr21:45990772	Pathogenic	Condition: not provided Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA10605388	rs_886043330	4 SubmittersRCV000289219 RCV001047073
NM_001848.3(COL6A1):c.1656C>T (p.Ala552=)	SNV Germline	Chr21:45998941	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070462	rs_377213930	3 SubmittersRCV000361053 RCV001088639
NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln)	SNV Germline	Chr21:46132077	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Tip-toe gait	Criteria Provided Conflicting Classifications	CA10072937	rs_367658663	5 SubmittersRCV000264062 RCV001257058 RCV002227118
NM_001849.4(COL6A2):c.801+1G>T	SNV Germline	Chr21:46114074	Pathogenic	Condition: not provided Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA10605400	rs_794727715	2 SubmittersRCV000288156 RCV001855169
NM_001849.4(COL6A2):c.219C>T (p.Phe73=)	SNV Germline	Chr21:46112082	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy COL6A2-related disorder	Criteria Provided Conflicting Classifications	CA10071235	rs_374336669	5 SubmittersRCV000725813 RCV001081483 RCV001141355 RCV004543076
NM_004369.4(COL6A3):c.7551C>T (p.Asn2517=)	SNV Germline	Chr2:237344467	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2187779	rs_570963533	3 SubmittersRCV000336229 RCV001423324
NM_001848.3(COL6A1):c.788G>A (p.Gly263Asp)	SNV Germline	Chr21:45987638	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10605416	rs_886043351	3 SubmittersRCV000302236 RCV001859644
NM_001849.4(COL6A2):c.1095G>A (p.Glu365=)	SNV Germline	Chr21:46117915	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071685	rs_374673302	2 SubmittersRCV000362593 RCV002519219
NM_001849.4(COL6A2):c.189G>A (p.Thr63=)	SNV Germline	Chr21:46112052	Conflicting classifications of pathogenicity	Myosclerosis Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071228	rs_143583433	5 SubmittersRCV000300938 RCV000379038 RCV000390977 RCV001085020
NM_004369.4(COL6A3):c.575C>T (p.Pro192Leu)	SNV Germline	Chr2:237394721	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189836	rs_563800854	3 SubmittersRCV000380544 RCV001220718
NM_004369.4(COL6A3):c.5635G>A (p.Gly1879Ser)	SNV Germline	Chr2:237365901	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2188621	rs_760603443	6 SubmittersRCV000263794 RCV000416242 RCV000542511
NM_004369.4(COL6A3):c.3198C>T (p.Arg1066=)	SNV Germline	Chr2:237374893	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA2189219	rs_200621867	3 SubmittersRCV000271214 RCV001087193 RCV004547709
NM_004369.4(COL6A3):c.8891C>T (p.Ala2964Val)	SNV Germline	Chr2:237336209	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2187420	rs_563813743	4 SubmittersRCV000328502 RCV001088627
NM_001849.4(COL6A2):c.1962C>T (p.Ser654=)	SNV Germline	Chr21:46125610	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA10072347	rs_150253422	4 SubmittersRCV000332019 RCV001087813 RCV001139091
NM_001849.4(COL6A2):c.2326G>A (p.Ala776Thr)	SNV Germline	Chr21:46126141	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10072520	rs_759293889	3 SubmittersRCV000367936 RCV000557776
NM_001848.3(COL6A1):c.3056A>G (p.Gln1019Arg)	SNV Germline	Chr21:46003982	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10071120	rs_751518356	4 SubmittersRCV000371573 RCV000792846 RCV002519239
NM_001848.3(COL6A1):c.1226C>A (p.Ala409Glu)	SNV Germline	Chr21:45992207	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070161	rs_765826390	3 SubmittersRCV000318344 RCV001328886
NM_004369.4(COL6A3):c.2145G>A (p.Ser715=)	SNV Germline	Chr2:237378988	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189472	rs_375924639	2 SubmittersRCV000340558 RCV001089158
NM_001848.3(COL6A1):c.1056+4A>G	SNV Germline	Chr21:45990830	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10605517	rs_886043433	3 SubmittersRCV000377484 RCV003517173
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys)	SNV Germline	Chr21:46125985	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Myosclerosis Condition: not provided Bethlem myopathy 1A Bethlem myopathy COL6A2-related disorder	Criteria Provided Conflicting Classifications	CA10072456	rs_150098077	8 SubmittersRCV000335376 RCV000391271 RCV000725902 RCV001082860 RCV001261892 RCV004535372
NM_001848.3(COL6A1):c.3029A>G (p.Gln1010Arg)	SNV Germline	Chr21:46003955	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA10071111	rs_141605607	5 SubmittersRCV000335163 RCV000365797 RCV000546868 RCV001705426
NM_001848.3(COL6A1):c.2595G>C (p.Thr865=)	SNV Germline	Chr21:46003521	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070971	rs_367832752	2 SubmittersRCV000300268 RCV001500515
NM_004369.4(COL6A3):c.4678G>A (p.Ala1560Thr)	SNV Germline	Chr2:237368785	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2188838	rs_371631320	4 SubmittersRCV000389638 RCV000542185 RCV002519269
NM_001848.3(COL6A1):c.1666G>A (p.Gly556Arg)	SNV Germline	Chr21:45998951	Conflicting classifications of pathogenicity	Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA10605615	rs_886043521	2 SubmittersRCV000260990 RCV000316226
NM_004369.4(COL6A3):c.4227G>A (p.Thr1409=)	SNV Germline	Chr2:237371790	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2188971	rs_142938239	2 SubmittersRCV000299699 RCV002521962
NM_004369.4(COL6A3):c.9494-5C>T	SNV Germline	Chr2:237324819	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10605654	rs_886043555	2 SubmittersRCV000320923 RCV003631110
NM_004369.4(COL6A3):c.6890G>C (p.Gly2297Ala)	SNV Germline	Chr2:237348653	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA10605679	rs_886043576	5 SubmittersRCV000710911 RCV001207298 RCV004549593
NM_004369.4(COL6A3):c.1088G>A (p.Arg363His)	SNV Germline	Chr2:237387806	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189710	rs_776329513	2 SubmittersRCV000387918 RCV001320693
NM_004369.4(COL6A3):c.9498C>T (p.Leu3166=)	SNV Germline	Chr2:237324810	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA2187236	rs_150376179	3 SubmittersRCV000357287 RCV000559385 RCV004549594
NM_004369.4(COL6A3):c.1939T>A (p.Ser647Thr)	SNV Germline	Chr2:237379194	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189510	rs_777409908	3 SubmittersRCV000284694 RCV002521973
NM_001849.4(COL6A2):c.288C>T (p.Tyr96=)	SNV Germline	Chr21:46112151	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071254	rs_61735833	3 SubmittersRCV000726012 RCV001079446
NM_001848.3(COL6A1):c.1273-4T>C	SNV Germline	Chr21:45992744	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070222	rs_373909354	2 SubmittersRCV000380337 RCV001455948
NM_001849.4(COL6A2):c.345G>A (p.Arg115=)	SNV Germline	Chr21:46112208	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10605845	rs_138007666	2 SubmittersRCV000295337 RCV002059226
NM_001849.4(COL6A2):c.942C>T (p.Ala314=)	SNV Germline	Chr21:46116665	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071559	rs_531713008	2 SubmittersRCV000291764 RCV001079071
NM_001849.4(COL6A2):c.3025G>A (p.Gly1009Ser)	SNV Germline	Chr21:46132517	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10073143	rs_35887009	4 SubmittersRCV000382527 RCV001081285 RCV002521980
NM_001848.3(COL6A1):c.1911C>T (p.Phe637=)	SNV Germline	Chr21:46001341	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070651	rs_552239546	2 SubmittersRCV000396889 RCV001500612

NM_004369.4(COL6A3):c.5036G>A (p.Gly1679Glu)

SNV
Germline

Chr2:237367151

Pathogenic/Likely pathogenic

Bethlem myopathy 1A
Condition: not provided
Bethlem myopathy 1C

Criteria Provided
Multiple Submitters
No Conflicts

CA239569

rs_121434553

3 SubmittersRCV000018689 RCV000790696 RCV003764588

NM_004369.4(COL6A3):c.6930+5G>A

SNV
Germline

Chr2:237348608

Pathogenic

Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1C

Criteria Provided
Multiple Submitters
No Conflicts

rs_749037028

3 SubmittersRCV000018690 RCV003517127 RCV003764589

NM_004369.4(COL6A3):c.1393C>T (p.Arg465Ter)

SNV
Germline

Chr2:237381419

Pathogenic

Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1C

Criteria Provided
Single Submitter

CA257715

rs_121434554

2 SubmittersRCV002247356 RCV003764590

NM_004369.4(COL6A3):c.5177T>G (p.Leu1726Arg)

SNV
Germline

Chr2:237367010

Pathogenic

Bethlem myopathy 1C

No Assertion Criteria Provided

CA257718

rs_121434555

1 SubmittersRCV003764592

NM_001849.4(COL6A2):c.811G>A (p.Gly271Ser)

SNV
Germline

Chr21:46115881

Pathogenic

Bethlem myopathy 1A
Condition: not provided
Bethlem myopathy 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA257720

rs_121912940

3 SubmittersRCV000018695 RCV001781280 RCV003764593

NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn)

SNV
Germline

Chr21:46125509

Pathogenic/Likely pathogenic

Bethlem myopathy 1A
Condition: not provided
Bethlem myopathy 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA257724

rs_267606750

5 SubmittersRCV000018699 RCV000725485 RCV004574029

NM_001849.4(COL6A2):c.1000-2A>G

SNV
Germline

Chr21:46117398

Pathogenic

Bethlem myopathy 1A
Bethlem myopathy 1B

Criteria Provided
Single Submitter

rs_1555873356

2 SubmittersRCV000018703 RCV003764599

NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)

SNV
Germline

Chr21:46132287

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
not specified
Collagen 6-related myopathy
Myosclerosis
Condition: not provided
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1B
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA242938

rs_117725825

12 SubmittersRCV000018704 RCV000149938 RCV000359356 RCV000302217 RCV000859498 RCV000993564 RCV003764600 RCV004532388

NM_001849.4(COL6A2):c.2455C>T (p.Gln819Ter)

SNV
Germline

Chr21:46126535

Pathogenic

Myosclerosis
Condition: not provided
Bethlem myopathy 1A
BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE

Criteria Provided
Single Submitter

CA127109

rs_121912942

3 SubmittersRCV000018705 RCV000480797 RCV001327989 RCV003764601

NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)

SNV
Germline

Chr21:46126144

Pathogenic/Likely pathogenic

Bethlem myopathy 1A
Condition: not provided
Ullrich congenital muscular dystrophy 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA257728

rs_267606747

5 SubmittersRCV000529271 RCV001091900 RCV003764602

NM_001849.4(COL6A2):c.847G>A (p.Gly283Arg)

SNV
Germline

Chr21:46115917

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1B

Criteria Provided
Conflicting Classifications

CA127112

rs_267606748

3 SubmittersRCV000269898 RCV000816890 RCV003764603

NM_001849.4(COL6A2):c.1493G>A (p.Arg498His)

SNV
Germline

Chr21:46121590

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Myosclerosis
Collagen 6-related myopathy
Ullrich congenital muscular dystrophy 1B

Criteria Provided
Conflicting Classifications

CA257730

rs_267606749

5 SubmittersRCV000653500 RCV000710888 RCV001138981 RCV001138980 RCV003764604

NM_001848.3(COL6A1):c.1577G>T (p.Gly526Val)

SNV
Germline

Chr21:45998399

Pathogenic

Bethlem myopathy 1A

No Assertion Criteria Provided

CA257732

rs_121912934

1 SubmittersRCV000018709

NM_001848.3(COL6A1):c.931-1G>A

SNV
Germline

Chr21:45990257

Pathogenic

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10604117

rs_886042354

3 SubmittersRCV000018710 RCV000725055

NM_001848.3(COL6A1):c.1056+2T>C

SNV
Germline

Chr21:45990828

Pathogenic

Bethlem myopathy 1A

No Assertion Criteria Provided

CA257735

rs_797044456

1 SubmittersRCV000018711

NM_001848.3(COL6A1):c.1022G>A (p.Gly341Asp)

SNV
Germline

Chr21:45990792

Pathogenic

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA257736

rs_121912935

3 SubmittersRCV000018712 RCV002274883

NM_001848.3(COL6A1):c.362A>G (p.Lys121Arg)

SNV
Germline

Chr21:45984403

Pathogenic

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA221786

rs_121912936

4 SubmittersRCV000018713 RCV000177135

NM_001848.3(COL6A1):c.1056+1G>A

SNV
Germline

Chr21:45990827

Pathogenic/Likely pathogenic

Bethlem myopathy 1A
Condition: not provided
Sensorimotor neuropathy
Abnormality of the musculature

Criteria Provided
Multiple Submitters
No Conflicts

CA221748

rs_398123631

14 SubmittersRCV000018714 RCV000079739 RCV000626814 RCV001813996

NM_001848.3(COL6A1):c.428+1G>A

SNV
Germline

Chr21:45984470

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_1569517717

2 SubmittersRCV000018716

NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg)

SNV
Germline

Chr21:45989129

Pathogenic

Condition: not provided
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Collagen 6-related myopathy
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A, AUTOSOMAL DOMINANT

Criteria Provided
Multiple Submitters
No Conflicts

CA127115

rs_121912938

14 SubmittersRCV000079828 RCV000180573 RCV000180574 RCV003314554 RCV003764606

NM_001848.3(COL6A1):c.868G>C (p.Gly290Arg)

SNV
Germline

Chr21:45989617

Pathogenic

Bethlem myopathy 1A
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A, AUTOSOMAL DOMINANT

Criteria Provided
Single Submitter

CA127117

rs_121912939

2 SubmittersRCV001851922 RCV003764607

NM_001848.3(COL6A1):c.841G>A (p.Gly281Arg)

SNV
Germline

Chr21:45989120

Pathogenic

Ullrich congenital muscular dystrophy 1A
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA257743

rs_267606746

3 SubmittersRCV000018722 RCV000497629 RCV001216604

NM_001849.4(COL6A2):c.2489G>A (p.Arg830Gln)

SNV
Germline

Chr21:46131981

Conflicting classifications of pathogenicity

Myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA206462

rs_139552940

4 SubmittersRCV000193161 RCV000387708 RCV001208362

NM_001849.4(COL6A2):c.1096C>T (p.Arg366Ter)

SNV
Germline

Chr21:46117916

Pathogenic

Condition: not provided
Bethlem myopathy 1A
BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE

Criteria Provided
Multiple Submitters
No Conflicts

CA128530

rs_387906609

6 SubmittersRCV000254747 RCV000796659 RCV003764621

NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn)

SNV
Germline

Chr21:46132103

Pathogenic/Likely pathogenic

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A
BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE

Criteria Provided
Multiple Submitters
No Conflicts

CA128533

rs_387906610

6 SubmittersRCV000591047 RCV000778644 RCV001054018 RCV003764622

NM_001848.3(COL6A1):c.350T>C (p.Val117Ala)

SNV
Germline

Chr21:45984391

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA215981

rs_138899581

7 SubmittersRCV000050243 RCV000360603 RCV000723507 RCV001083967

NM_004369.4(COL6A3):c.6193G>A (p.Gly2065Ser)

SNV
Germline

Chr2:237361138

Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA215987

rs_397515332

4 SubmittersRCV000050245 RCV001853072

NM_001848.3(COL6A1):c.1398+10G>A

SNV
Germline

Chr21:45994239

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA221752

rs_143438559

4 SubmittersRCV000079749 RCV000301977 RCV000723544 RCV001080919

NM_001848.3(COL6A1):c.1505C>T (p.Pro502Leu)

SNV
Germline

Chr21:45997743

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA221753

rs_398123632

3 SubmittersRCV000079755 RCV001197518 RCV003631088

NM_001848.3(COL6A1):c.1665C>T (p.Pro555=)

SNV
Germline

Chr21:45998950

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA221756

rs_369802454

5 SubmittersRCV000079762 RCV000723482 RCV001142784 RCV001089392

NM_001848.3(COL6A1):c.1823-9C>T

SNV
Germline

Chr21:46001244

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA221760

rs_398123633

2 SubmittersRCV000079775 RCV002055135

NM_001848.3(COL6A1):c.1931G>A (p.Arg644Gln)

SNV
Germline

Chr21:46001361

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA221761

rs_398123634

3 SubmittersRCV000079777 RCV001065719

NM_001848.3(COL6A1):c.2091G>A (p.Met697Ile)

SNV
Germline

Chr21:46002242

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
not specified

Criteria Provided
Conflicting Classifications

CA221764

rs_372750707

5 SubmittersRCV000079784 RCV001442122 RCV001731367

NM_001848.3(COL6A1):c.2191C>T (p.Arg731Cys)

SNV
Germline

Chr21:46002342

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA221767

rs_398123635

3 SubmittersRCV000079786 RCV000383575 RCV000794035

NM_001848.3(COL6A1):c.2304G>C (p.Gln768His)

SNV
Germline

Chr21:46002580

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA221770

rs_376567898

5 SubmittersRCV000079788 RCV001142888 RCV001086476

NM_001848.3(COL6A1):c.2614C>T (p.Arg872Trp)

SNV
Germline

Chr21:46003540

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Conflicting Classifications

CA221777

rs_368561027

5 SubmittersRCV000653571 RCV000723506 RCV000764265

NM_001848.3(COL6A1):c.2642C>T (p.Thr881Met)

SNV
Germline

Chr21:46003568

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
not specified
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA221780

rs_150432347

6 SubmittersRCV000531637 RCV000997844 RCV000252293 RCV000271407

NM_001848.3(COL6A1):c.588+8C>G

SNV
Germline

Chr21:45986693

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA221792

rs_398123638

4 SubmittersRCV000079820 RCV000373411 RCV000723505 RCV001088597

NM_001848.3(COL6A1):c.738+14C>T

SNV
Germline

Chr21:45987189

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
not specified

Criteria Provided
Conflicting Classifications

CA221793

rs_374896651

3 SubmittersRCV000079823 RCV002055141 RCV003235035

NM_001848.3(COL6A1):c.805-2A>G

SNV
Germline

Chr21:45989082

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA221794

rs_398123639

2 SubmittersRCV000180576 RCV001380839

NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg)

SNV
Germline

Chr21:45989617

Pathogenic

Condition: not provided
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Abnormality of the musculature
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA221800

rs_121912939

12 SubmittersRCV000079833 RCV000173748 RCV001251002 RCV001814048 RCV001266306

NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)

SNV
Germline

Chr21:45989626

Pathogenic/Likely pathogenic

Bethlem myopathy 1A
Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA221801

rs_398123643

12 SubmittersRCV000173744 RCV000173743 RCV001813755 RCV002483138

NM_001848.3(COL6A1):c.896G>A (p.Gly299Glu)

SNV
Germline

Chr21:45989645

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA221804

rs_398123644

3 SubmittersRCV000173745 RCV001854408

NM_001849.4(COL6A2):c.1769C>T (p.Thr590Met)

SNV
Germline

Chr21:46124919

Conflicting classifications of pathogenicity

Myosclerosis
Collagen 6-related myopathy
not specified
Condition: not provided
Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA147444

rs_142709940

6 SubmittersRCV000276065 RCV000370549 RCV000079859 RCV000658928 RCV001086666 RCV004537332

NM_001849.4(COL6A2):c.1970-3C>A

SNV
Germline

Chr21:46125782

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Myosclerosis
Condition: not provided
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A
Bethlem myopathy 1A
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA221815

rs_201879417

7 SubmittersRCV000300588 RCV000259240 RCV000415855 RCV000709829 RCV001084118 RCV003319318

NM_001849.4(COL6A2):c.2484G>A (p.Thr828=)

SNV
Germline

Chr21:46131976

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA221825

rs_147199350

2 SubmittersRCV000079880 RCV001086738

NM_001849.4(COL6A2):c.2580G>A (p.Ala860=)

SNV
Germline

Chr21:46132072

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA221828

rs_146420786

3 SubmittersRCV000079881 RCV001084761

NM_001849.4(COL6A2):c.2761G>A (p.Val921Met)

SNV
Germline

Chr21:46132253

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA221834

rs_398123650

5 SubmittersRCV000079885 RCV000796644 RCV002514404

NM_001849.4(COL6A2):c.759A>G (p.Glu253=)

SNV
Germline

Chr21:46114031

Conflicting classifications of pathogenicity

Myosclerosis
Collagen 6-related myopathy
Bethlem myopathy 1A
Tip-toe gait
COL6A2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA221840

rs_140404854

7 SubmittersRCV000316583 RCV000378558 RCV001083627 RCV002226455 RCV004537335 RCV000723766

NM_004369.4(COL6A3):c.1264G>A (p.Val422Met)

SNV
Germline

Chr2:237387630

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Bethlem myopathy 1A
Dystonia 27
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA147906

rs_114511558

6 SubmittersRCV000080909 RCV000373285 RCV000544484 RCV002295281 RCV004549506

NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)

SNV
Germline

Chr2:237395121

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A
Dystonia 27

Criteria Provided
Conflicting Classifications

CA222591

rs_398124119

9 SubmittersRCV000080916 RCV000280500 RCV000319162 RCV000714578

NM_004369.4(COL6A3):c.3223C>A (p.Arg1075=)

SNV
Germline

Chr2:237374868

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA222597

rs_201962257

2 SubmittersRCV000080928 RCV003631090

NM_004369.4(COL6A3):c.3954C>T (p.Tyr1318=)

SNV
Germline

Chr2:237372063

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA222600

rs_375909800

5 SubmittersRCV000254019 RCV000723511 RCV001086342

NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln)

SNV
Germline

Chr2:237371833

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A
Dystonia 27
Bethlem myopathy 1A
Dystonia 27
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Conflicting Classifications

CA147959

rs_80272723

10 SubmittersRCV000080934 RCV000362566 RCV000417628 RCV001079176 RCV002298466 RCV002483144

NM_004369.4(COL6A3):c.421G>A (p.Gly141Arg)

SNV
Germline

Chr2:237394875

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA222603

rs_398124120

3 SubmittersRCV000080935 RCV003764762

NM_004369.4(COL6A3):c.4399A>G (p.Asn1467Asp)

SNV
Germline

Chr2:237369064

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA222606

rs_138049094

6 SubmittersRCV000080939 RCV000558864 RCV001082187 RCV001143351

NM_004369.4(COL6A3):c.4503C>T (p.Asp1501=)

SNV
Germline

Chr2:237368960

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA222608

rs_115551245

5 SubmittersRCV000242148 RCV000347648 RCV001079752 RCV000723676

NM_004369.4(COL6A3):c.4848C>T (p.Ser1616=)

SNV
Germline

Chr2:237368615

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA222611

rs_200948078

3 SubmittersRCV000080944 RCV002055185 RCV004549513

NM_004369.4(COL6A3):c.5418C>T (p.Ser1806=)

SNV
Germline

Chr2:237366769

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA222620

rs_398124123

2 SubmittersRCV000080951 RCV001464406

NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg)

SNV
Germline

Chr2:237365926

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Collagen 6-related myopathy
Bethlem myopathy 1A
Tip-toe gait
Inborn genetic diseases
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA222623

rs_113153193

9 SubmittersRCV000080952 RCV000259065 RCV000359943 RCV001082869 RCV001548748 RCV004019559 RCV004549514

NM_004369.4(COL6A3):c.6138C>T (p.Ile2046=)

SNV
Germline

Chr2:237361757

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA222629

rs_115401779

3 SubmittersRCV000723664 RCV001089100

NM_004369.4(COL6A3):c.6156+5G>A

SNV
Germline

Chr2:237361734

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA222632

rs_112374074

3 SubmittersRCV000080958 RCV000723499 RCV003764763

NM_004369.4(COL6A3):c.6156G>C (p.Lys2052Asn)

SNV
Germline

Chr2:237361739

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA222633

rs_398124125

4 SubmittersRCV000723513 RCV001055334

NM_004369.4(COL6A3):c.6210+1G>A

SNV
Germline

Chr2:237361120

Pathogenic

Condition: not provided
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1C

Criteria Provided
Multiple Submitters
No Conflicts

CA222636

rs_398124126

10 SubmittersRCV000080961 RCV000175056 RCV000817699 RCV003764764

NM_004369.4(COL6A3):c.6282+1G>A

SNV
Germline

Chr2:237360087

Pathogenic

Condition: not provided
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA222638

rs_398124128

4 SubmittersRCV000080964 RCV001775079 RCV001854427

NM_004369.4(COL6A3):c.6622G>T (p.Ala2208Ser)

SNV
Germline

Chr2:237354904

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA222640

rs_398124129

2 SubmittersRCV000080970 RCV002514420

NM_004369.4(COL6A3):c.686C>T (p.Thr229Met)

SNV
Germline

Chr2:237394610

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA222647

rs_141586922

4 SubmittersRCV000080975 RCV000525553

NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp)

SNV
Germline

Chr2:237344760

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA222652

rs_150165484

8 SubmittersRCV000282178 RCV000657932 RCV000987061 RCV002051806

NM_004369.4(COL6A3):c.730A>G (p.Ile244Val)

SNV
Germline

Chr2:237388164

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA148021

rs_116729313

6 SubmittersRCV000080989 RCV000369989 RCV000534612 RCV001707522 RCV002514421

NM_004369.4(COL6A3):c.7400C>T (p.Ser2467Leu)

SNV
Germline

Chr2:237344618

Conflicting classifications of pathogenicity

not specified
Bethlem myopathy 1A
Inborn genetic diseases
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA148027

rs_111803773

5 SubmittersRCV000080991 RCV000548028 RCV004019560 RCV004549516

NM_004369.4(COL6A3):c.7685T>C (p.Val2562Ala)

SNV
Germline

Chr2:237342145

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA222658

rs_143631346

5 SubmittersRCV000306466 RCV000723496 RCV000813495

NM_004369.4(COL6A3):c.8008G>A (p.Ala2670Thr)

SNV
Germline

Chr2:237340908

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA222664

rs_398124135

3 SubmittersRCV000081005 RCV001324707 RCV002514422

NM_004369.4(COL6A3):c.8464+20G>C

SNV
Germline

Chr2:237340432

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA222667

rs_398124136

2 SubmittersRCV000081009 RCV002055188

NM_004369.4(COL6A3):c.862G>A (p.Asp288Asn)

SNV
Germline

Chr2:237388032

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy
not specified

Criteria Provided
Conflicting Classifications

CA222668

rs_115729513

4 SubmittersRCV000081012 RCV000653661 RCV001141966 RCV001818246

NM_001848.3(COL6A1):c.349G>A (p.Val117Met)

SNV
Germline

Chr21:45984390

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Collagen 6-related myopathy
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA231047

rs_150686304

8 SubmittersRCV000116792 RCV000149921 RCV000303402 RCV000515158 RCV001080605

NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met)

SNV
Germline

Chr2:237381199

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Tip-toe gait
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA231050

rs_34741387

5 SubmittersRCV000116795 RCV000243539 RCV002222398 RCV001083188 RCV004549580

NM_004369.4(COL6A3):c.3680-5C>T

SNV
Germline

Chr2:237372342

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA152465

rs_370146203

5 SubmittersRCV000116796 RCV000724221 RCV001084876

NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys)

SNV
Germline

Chr2:237371861

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A
Tip-toe gait
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA203744

rs_146092501

13 SubmittersRCV000180594 RCV000224823 RCV000304466 RCV001081946 RCV001358668 RCV004549581

NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val)

SNV
Germline

Chr2:237340907

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A
Dystonia 27
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA231053

rs_142851023

7 SubmittersRCV000116801 RCV000515400 RCV000550052 RCV004549582

NM_004369.4(COL6A3):c.6868C>T (p.Arg2290Cys)

SNV
Germline

Chr2:237350158

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA295314

rs_116608946

5 SubmittersRCV000369192 RCV000817834 RCV000725025

NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr)

SNV
Germline

Chr2:237367275

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided
Dystonia 27
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA200826

rs_114322958

9 SubmittersRCV000174100 RCV000350868 RCV000987066 RCV001719926 RCV002295283 RCV004551301

NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu)

SNV
Germline

Chr2:237376802

Conflicting classifications of pathogenicity

not specified
Bethlem myopathy 1A
Dystonia 27
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A
Condition: not provided
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA247184

rs_114284669

6 SubmittersRCV000247969 RCV000515295 RCV000653501 RCV000724543 RCV001139121

NM_004369.4(COL6A3):c.2305G>A (p.Ala769Thr)

SNV
Germline

Chr2:237378828

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA295323

rs_142719863

8 SubmittersRCV000371027 RCV000727373 RCV000804572

NM_004369.4(COL6A3):c.1826G>A (p.Arg609Gln)

SNV
Germline

Chr2:237380986

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_149330325

4 SubmittersRCV000730637 RCV001139244 RCV000795686

NM_001848.3(COL6A1):c.1378G>A (p.Val460Ile)

SNV
Germline

Chr21:45994209

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_375452881

2 SubmittersRCV001205926 RCV003144140

NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly)

SNV
Germline

Chr21:46003561

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Condition: not provided
Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA295255

rs_140534207

10 SubmittersRCV000149919 RCV000301615 RCV000762044 RCV001265660 RCV001086949

NM_001849.4(COL6A2):c.857G>A (p.Gly286Glu)

SNV
Germline

Chr21:46116010

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA295264

rs_727502827

2 SubmittersRCV000593309 RCV000810925

NM_001849.4(COL6A2):c.874G>A (p.Gly292Ser)

SNV
Germline

Chr21:46116027

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

rs_727502828

2 SubmittersRCV002047237

NM_001849.4(COL6A2):c.911G>T (p.Gly304Val)

SNV
Germline

Chr21:46116387

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA295290

rs_727502832

1 SubmittersRCV000559107

NM_001849.4(COL6A2):c.1465C>T (p.Arg489Trp)

SNV
Germline

Chr21:46121562

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Conflicting Classifications

CA295270

rs_727502829

6 SubmittersRCV000735128 RCV001138979 RCV002514869 RCV001330649

NM_001849.4(COL6A2):c.2002G>A (p.Glu668Lys)

SNV
Germline

Chr21:46125817

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA295279

rs_138948335

5 SubmittersRCV000512668 RCV000808953

NM_001849.4(COL6A2):c.2566G>A (p.Val856Met)

SNV
Germline

Chr21:46132058

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Myosclerosis
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA295284

rs_368160013

5 SubmittersRCV000149937 RCV000316783 RCV000373797 RCV001053729 RCV002514870

NM_004369.4(COL6A3):c.7007C>T (p.Pro2336Leu)

SNV
Germline

Chr2:237347829

Conflicting classifications of pathogenicity

Inborn genetic diseases
not specified
Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA204818

rs_202092407

6 SubmittersRCV000190770 RCV000250883 RCV000344093 RCV000525963 RCV001706016 RCV004551318

NM_001849.4(COL6A2):c.1336G>C (p.Asp446His)

SNV
Germline

Chr21:46120518

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA233813

rs_535007570

7 SubmittersRCV000153083 RCV000557300

NM_004369.4(COL6A3):c.4510C>T (p.Arg1504Trp)

SNV
Germline

Chr2:237368953

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA233835

rs_144223596

7 SubmittersRCV000487673 RCV000528795 RCV001141518

NM_004369.4(COL6A3):c.6751C>T (p.Arg2251Trp)

SNV
Germline

Chr2:237352524

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA233825

rs_116690555

7 SubmittersRCV000248266 RCV000354274 RCV000653606 RCV001706017 RCV002514950

NM_001849.4(COL6A2):c.2528G>A (p.Arg843Gln)

SNV
Germline

Chr21:46132020

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA233819

rs_201736323

3 SubmittersRCV000153086 RCV000704454

NM_004369.4(COL6A3):c.3287G>A (p.Arg1096His)

SNV
Germline

Chr2:237374804

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA233841

rs_200860322

3 SubmittersRCV000153097 RCV001087811

NM_001849.4(COL6A2):c.1162G>A (p.Gly388Arg)

SNV
Germline

Chr21:46118659

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA233810

rs_727503883

3 SubmittersRCV000153082 RCV000808812

NM_001849.4(COL6A2):c.1761C>T (p.Pro587=)

SNV
Germline

Chr21:46124911

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA233816

rs_146311719

3 SubmittersRCV000153084 RCV000723870 RCV001079810

NM_004369.4(COL6A3):c.7401G>A (p.Ser2467=)

SNV
Germline

Chr2:237344617

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA233822

rs_377572272

4 SubmittersRCV000153089 RCV000278723 RCV001087660

NM_004369.4(COL6A3):c.6157-4T>G

SNV
Germline

Chr2:237361178

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA233828

rs_536696110

3 SubmittersRCV000153092 RCV002056028 RCV004551319

NM_004369.4(COL6A3):c.5910C>T (p.Arg1970=)

SNV
Germline

Chr2:237364357

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA233829

rs_727503884

2 SubmittersRCV000153093 RCV001497015

NM_004369.4(COL6A3):c.5619C>T (p.His1873=)

SNV
Germline

Chr2:237365917

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA233832

rs_146355600

6 SubmittersRCV000249315 RCV000302602 RCV000415904 RCV001079654

NM_004369.4(COL6A3):c.2302C>G (p.Arg768Gly)

SNV
Germline

Chr2:237378831

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA236133

rs_200722892

2 SubmittersRCV000171340 RCV001243937

NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn)

SNV
Germline

Chr21:46125812

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA236432

rs_786205642

3 SubmittersRCV000171510 RCV001337641

NM_004369.4(COL6A3):c.7660G>A (p.Ala2554Thr)

SNV
Germline

Chr2:237344358

Conflicting classifications of pathogenicity

Dystonia 27
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Conflicting Classifications

CA200139

rs_786205870

4 SubmittersRCV000172848 RCV000699713 RCV001198487

NM_004369.4(COL6A3):c.8966-1G>C

SNV
Germline

Chr2:237334890

Pathogenic

Dystonia 27
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA200148

rs_767517186

6 SubmittersRCV000172851 RCV000592070 RCV000688238

NM_004369.4(COL6A3):c.7502G>A (p.Arg2501His)

SNV
Germline

Chr2:237344516

Conflicting classifications of pathogenicity

Dystonia 27
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA200149

rs_541928674

3 SubmittersRCV000172852 RCV000389218 RCV001372713

NM_001849.4(COL6A2):c.988G>A (p.Asp330Asn)

SNV
Germline

Chr21:46116803

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Myosclerosis
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA239204

rs_139399166

5 SubmittersRCV000311316 RCV000407691 RCV000536085 RCV000724011

NM_004369.4(COL6A3):c.4436A>T (p.Gln1479Leu)

SNV
Germline

Chr2:237369027

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA239253

rs_369449472

3 SubmittersRCV000173801 RCV000794950

NM_004369.4(COL6A3):c.5341A>G (p.Ile1781Val)

SNV
Germline

Chr2:237366846

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A
Dystonia 27

Criteria Provided
Conflicting Classifications

CA239566

rs_145447965

3 SubmittersRCV000174099 RCV000547737 RCV000765642

NM_001848.3(COL6A1):c.956A>G (p.Lys319Arg)

SNV
Germline

Chr21:45990283

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA239823

rs_794727059

3 SubmittersRCV000174301 RCV000821054

NM_001848.3(COL6A1):c.957+2T>C

SNV
Germline

Chr21:45990286

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA274971

rs_794727060

2 SubmittersRCV000174303 RCV002269932

NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg)

SNV
Germline

Chr21:46117890

Conflicting classifications of pathogenicity

not specified
Myosclerosis
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA239826

rs_199929757

6 SubmittersRCV000174304 RCV000300853 RCV000353406 RCV000762045 RCV001086194 RCV004539608

NM_004369.4(COL6A3):c.5501-4C>G

SNV
Germline

Chr2:237366039

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA239847

rs_143237699

3 SubmittersRCV000174329 RCV001085054

NM_001848.3(COL6A1):c.1013G>A (p.Gly338Glu)

SNV
Germline

Chr21:45990783

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA240292

rs_794727121

3 SubmittersRCV000320695 RCV001071986

NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn)

SNV
Germline

Chr21:46120518

Conflicting classifications of pathogenicity

Myosclerosis
not specified
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases
Collagen 6-related myopathy
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA240700

rs_535007570

10 SubmittersRCV000300525 RCV000232259 RCV000391113 RCV000766827 RCV000544905 RCV001267221 RCV003483560

NM_001849.4(COL6A2):c.1333-10C>G

SNV
Germline

Chr21:46120505

Conflicting classifications of pathogenicity

Myosclerosis
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA240703

rs_199513044

7 SubmittersRCV000348429 RCV000400775 RCV000724812 RCV001081936 RCV004539622

NM_001849.4(COL6A2):c.1437T>C (p.Ala479=)

SNV
Germline

Chr21:46121102

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Myosclerosis
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA240865

rs_149077114

6 SubmittersRCV000249787 RCV000355395 RCV000391111 RCV000724248 RCV001087783

NM_004369.4(COL6A3):c.6239G>A (p.Gly2080Asp)

SNV
Germline

Chr2:237360131

Pathogenic

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA275040

rs_794727188

4 SubmittersRCV000175185 RCV000724747

NM_004369.4(COL6A3):c.6293G>T (p.Gly2098Val)

SNV
Germline

Chr2:237359378

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA275050

rs_794727206

2 SubmittersRCV000175313 RCV002516670

NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys)

SNV
Germline

Chr21:45982738

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A
Bethlem myopathy 1A
Collagen 6-related myopathy
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Conflicting Classifications

CA241436

rs_137964147

9 SubmittersRCV000175702 RCV000724794 RCV000764263 RCV000653530 RCV001139936 RCV000754716

NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp)

SNV
Germline

Chr21:45982706

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A
COL6A1-related disorder

Criteria Provided
Conflicting Classifications

CA241439

rs_143502850

9 SubmittersRCV000202666 RCV000390817 RCV000724857 RCV001086453 RCV004537387

NM_001849.4(COL6A2):c.22G>A (p.Val8Met)

SNV
Germline

Chr21:46111498

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA241442

rs_192476178

4 SubmittersRCV000724735 RCV001084510

NM_001848.3(COL6A1):c.1350G>A (p.Pro450=)

SNV
Germline

Chr21:45994181

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA241921

rs_144887329

3 SubmittersRCV000723484 RCV001081300

NM_001848.3(COL6A1):c.1575C>T (p.Pro525=)

SNV
Germline

Chr21:45998171

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A1-related disorder

Criteria Provided
Conflicting Classifications

CA242318

rs_781031251

3 SubmittersRCV000176389 RCV001236574 RCV004539637

NM_001849.4(COL6A2):c.1932G>A (p.Arg644=)

SNV
Germline

Chr21:46125580

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA242535

rs_776676512

2 SubmittersRCV000176543 RCV002517698

NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val)

SNV
Germline

Chr21:45999162

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA242672

rs_374315921

6 SubmittersRCV000176643 RCV000547013 RCV000764264 RCV002517701

NM_001849.4(COL6A2):c.2098G>A (p.Gly700Ser)

SNV
Germline

Chr21:46125913

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA242678

rs_794727418

2 SubmittersRCV000176645 RCV001368873

NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met)

SNV
Germline

Chr21:46126007

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Conflicting Classifications

CA242680

rs_794727419

5 SubmittersRCV000176647 RCV000990370 RCV003441146

NM_004369.4(COL6A3):c.6749C>T (p.Pro2250Leu)

SNV
Germline

Chr2:237352526

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
not specified

Criteria Provided
Conflicting Classifications

CA242694

rs_140728855

6 SubmittersRCV000724744 RCV000794513 RCV003488427

NM_001849.4(COL6A2):c.2517C>T (p.Asp839=)

SNV
Germline

Chr21:46132009

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Myosclerosis
Condition: not provided
Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA242932

rs_113002150

5 SubmittersRCV000310053 RCV000367104 RCV000723503 RCV001087613 RCV004537414

NM_001849.4(COL6A2):c.2961G>A (p.Thr987=)

SNV
Germline

Chr21:46132453

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA242935

rs_149845431

3 SubmittersRCV000176857 RCV000724103 RCV001088613

NM_001849.4(COL6A2):c.2751G>T (p.Val917=)

SNV
Germline

Chr21:46132243

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Myosclerosis
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA242943

rs_111341650

5 SubmittersRCV000241740 RCV000294726 RCV000351968 RCV000724665 RCV001086781

NM_001849.4(COL6A2):c.2683A>C (p.Ser895Arg)

SNV
Germline

Chr21:46132175

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA242946

rs_141233891

6 SubmittersRCV000176863 RCV000416019 RCV001082268 RCV001143620 RCV004539642

NM_001849.4(COL6A2):c.2679G>A (p.Pro893=)

SNV
Germline

Chr21:46132171

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA242949

rs_748286207

2 SubmittersRCV000176865 RCV001460927

NM_001849.4(COL6A2):c.2850C>T (p.Gly950=)

SNV
Germline

Chr21:46132342

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA242952

rs_751192681

3 SubmittersRCV000176866 RCV001089400 RCV004537415

NM_001849.4(COL6A2):c.2605G>T (p.Asp869Tyr)

SNV
Germline

Chr21:46132097

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Myosclerosis
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA242955

rs_141021828

4 SubmittersRCV000351153 RCV000407370 RCV000724824 RCV001078865

NM_004369.4(COL6A3):c.6817-5T>C

SNV
Germline

Chr2:237350214

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA242967

rs_794727464

2 SubmittersRCV000176876 RCV002517705

NM_004369.4(COL6A3):c.410G>A (p.Arg137Gln)

SNV
Germline

Chr2:237394886

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA243300

rs_779126378

4 SubmittersRCV000177196 RCV000329032 RCV000811298

NM_001848.3(COL6A1):c.2045G>A (p.Arg682Gln)

SNV
Germline

Chr21:46002049

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA243745

rs_148962954

6 SubmittersRCV000253738 RCV000268594 RCV000585392 RCV000653535

NM_001848.3(COL6A1):c.2821C>T (p.Leu941Phe)

SNV
Germline

Chr21:46003747

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA244776

rs_147882179

7 SubmittersRCV000177839 RCV000334943 RCV000824033 RCV002516756

NM_001848.3(COL6A1):c.2891G>A (p.Arg964Gln)

SNV
Germline

Chr21:46003817

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA244782

rs_794727580

3 SubmittersRCV000177841 RCV001338749

NM_001848.3(COL6A1):c.2507G>A (p.Gly836Asp)

SNV
Germline

Chr21:46003433

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA244788

rs_794727582

2 SubmittersRCV000177843 RCV003631092

NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu)

SNV
Germline

Chr21:46003735

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA244794

rs_117583120

9 SubmittersRCV000279845 RCV000431648 RCV001087752

NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)

SNV
Germline

Chr2:237344571

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
not specified
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA244831

rs_139260335

14 SubmittersRCV000177877 RCV000352490 RCV003114326 RCV003387788

NM_004369.4(COL6A3):c.7175-6C>G

SNV
Germline

Chr2:237344849

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA244834

rs_199723531

4 SubmittersRCV000177878 RCV001085616

NM_004369.4(COL6A3):c.7441A>G (p.Thr2481Ala)

SNV
Germline

Chr2:237344577

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA244844

rs_201467603

3 SubmittersRCV000177882 RCV000690650

NM_004369.4(COL6A3):c.8415C>T (p.Asn2805=)

SNV
Germline

Chr2:237340501

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA244928

rs_375442243

3 SubmittersRCV000177941 RCV001138187 RCV001088529

NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp)

SNV
Germline

Chr2:237340727

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Collagen 6-related myopathy
Bethlem myopathy 1A
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA244931

rs_138466455

14 SubmittersRCV000177942 RCV000254307 RCV000270502 RCV001081264 RCV002226459

NM_001849.4(COL6A2):c.730G>A (p.Gly244Arg)

SNV
Germline

Chr21:46112819

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA245199

rs_199806576

3 SubmittersRCV000178169 RCV000805017

NM_004369.4(COL6A3):c.1150G>A (p.Ala384Thr)

SNV
Germline

Chr2:237387744

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA245244

rs_374267444

6 SubmittersRCV000822172 RCV000724219 RCV001818436 RCV002516769

NM_004369.4(COL6A3):c.1146G>A (p.Gln382=)

SNV
Germline

Chr2:237387748

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA245247

rs_368800027

3 SubmittersRCV000178212 RCV000724218 RCV001427403

NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr)

SNV
Germline

Chr2:237388119

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA202762

rs_141609058

7 SubmittersRCV000178213 RCV000355357 RCV000981752 RCV001088802 RCV002516770 RCV004553004

NM_004369.4(COL6A3):c.8819C>T (p.Thr2940Met)

SNV
Germline

Chr2:237336281

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA245531

rs_200626456

5 SubmittersRCV000178441 RCV000286598 RCV000557223 RCV002516774

NM_004369.4(COL6A3):c.8724C>T (p.Ala2908=)

SNV
Germline

Chr2:237336376

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA245534

rs_114684687

2 SubmittersRCV000178442 RCV001082785

NM_004369.4(COL6A3):c.9061G>C (p.Asp3021His)

SNV
Germline

Chr2:237334794

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA245566

rs_144054353

4 SubmittersRCV000178463 RCV001064901 RCV004553007

NM_004369.4(COL6A3):c.8970G>A (p.Lys2990=)

SNV
Germline

Chr2:237334885

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA245572

rs_113721676

3 SubmittersRCV000178465 RCV001088696 RCV001138503

NM_004369.4(COL6A3):c.9487G>A (p.Ala3163Thr)

SNV
Germline

Chr2:237325566

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA245660

rs_553486570

2 SubmittersRCV000178531 RCV000818011

NM_004369.4(COL6A3):c.9351C>T (p.Asp3117=)

SNV
Germline

Chr2:237325702

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA245663

rs_148821986

4 SubmittersRCV000178532 RCV000286270 RCV001088407

NM_001848.3(COL6A1):c.717C>T (p.Ile239=)

SNV
Germline

Chr21:45987072

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA246042

rs_775349013

3 SubmittersRCV000178848 RCV002515270

NM_001848.3(COL6A1):c.595C>T (p.Arg199Cys)

SNV
Germline

Chr21:45986950

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA246045

rs_749628937

4 SubmittersRCV000178849 RCV001243310 RCV004020133

NM_001849.4(COL6A2):c.801+1G>A

SNV
Germline

Chr21:46114074

Pathogenic

Condition: not provided
Bethlem myopathy 1A
Abnormality of the musculature

Criteria Provided
Multiple Submitters
No Conflicts

CA275306

rs_794727715

3 SubmittersRCV000178850 RCV000178851 RCV001814091

NM_004369.4(COL6A3):c.1478T>C (p.Val493Ala)

SNV
Germline

Chr2:237381334

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided
Dystonia 27
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA203065

rs_116794756

7 SubmittersRCV000178890 RCV000267124 RCV000557584 RCV001753582 RCV002298505 RCV004553011

NM_004369.4(COL6A3):c.1948G>A (p.Val650Ile)

SNV
Germline

Chr2:237379185

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA246674

rs_149187225

2 SubmittersRCV000179433 RCV002517751

NM_004369.4(COL6A3):c.2292C>T (p.Asn764=)

SNV
Germline

Chr2:237378841

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA246677

rs_116066149

6 SubmittersRCV000250704 RCV000390685 RCV000724740 RCV001085540

NM_004369.4(COL6A3):c.2444C>A (p.Pro815His)

SNV
Germline

Chr2:237378689

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA246680

rs_199601240

4 SubmittersRCV000179436 RCV000653600

NM_001849.4(COL6A2):c.875G>T (p.Gly292Val)

SNV
Germline

Chr21:46116028

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA275394

rs_794727855

3 SubmittersRCV000179831 RCV000179832

NM_004369.4(COL6A3):c.3063A>G (p.Pro1021=)

SNV
Germline

Chr2:237376779

Conflicting classifications of pathogenicity

not specified
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA247186

rs_200098134

3 SubmittersRCV000179881 RCV000539420 RCV000724519

NM_004369.4(COL6A3):c.3589G>A (p.Val1197Ile)

SNV
Germline

Chr2:237374502

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
not specified

Criteria Provided
Conflicting Classifications

CA247620

rs_748053172

4 SubmittersRCV000180242 RCV001852242 RCV003398904

NM_004369.4(COL6A3):c.3138G>T (p.Leu1046=)

SNV
Germline

Chr2:237374953

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA247623

rs_780402445

2 SubmittersRCV000180243 RCV002054147

NM_004369.4(COL6A3):c.3446G>A (p.Arg1149Gln)

SNV
Germline

Chr2:237374645

Conflicting classifications of pathogenicity

not specified
Bethlem myopathy 1A
Collagen 6-related myopathy
Condition: not provided
Inborn genetic diseases
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA247626

rs_36062562

6 SubmittersRCV000180244 RCV000653624 RCV001143453 RCV001697128 RCV002516813 RCV004553022

NM_001849.4(COL6A2):c.933A>T (p.Glu311Asp)

SNV
Germline

Chr21:46116656

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA248067

rs_370624136

5 SubmittersRCV000180577 RCV001141472 RCV001212040 RCV004020175

NM_004369.4(COL6A3):c.4103C>T (p.Thr1368Met)

SNV
Germline

Chr2:237371914

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA248090

rs_116505603

6 SubmittersRCV000374173 RCV000527934 RCV000724314

NM_004369.4(COL6A3):c.4217C>T (p.Thr1406Met)

SNV
Germline

Chr2:237371800

Conflicting classifications of pathogenicity

not specified
Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA248093

rs_114061998

5 SubmittersRCV000249892 RCV000653662 RCV001711471 RCV002516823

NM_004369.4(COL6A3):c.3923G>A (p.Arg1308Gln)

SNV
Germline

Chr2:237372094

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA248099

rs_774461787

2 SubmittersRCV000180600 RCV000803816

NM_001848.3(COL6A1):c.821C>T (p.Pro274Leu)

SNV
Germline

Chr21:45989100

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA275469

rs_201093313

3 SubmittersRCV000184024 RCV000731127

NM_004370.6(COL12A1):c.7840+1G>A

SNV
Germline

Chr6:75113601

Pathogenic

Ullrich congenital muscular dystrophy 2
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

CA10575740

rs_875989819

2 SubmittersRCV000186498 RCV001852431

NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr)

SNV
Germline

Chr6:75121387

Pathogenic/Likely pathogenic

Bethlem myopathy 2
Condition: not provided
Ullrich congenital muscular dystrophy 2
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA203987

rs_796052093

6 SubmittersRCV000186499 RCV000480507 RCV000664222 RCV000850513

NM_004370.6(COL12A1):c.8357G>A (p.Gly2786Asp)

SNV
Germline

Chr6:75102655

Pathogenic

Bethlem myopathy 2

No Assertion Criteria Provided

CA203989

rs_796052094

1 SubmittersRCV000186500

NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys)

SNV
Germline

Chr6:75131984

Conflicting classifications of pathogenicity

Bethlem myopathy 2
Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

CA203991

rs_200487396

4 SubmittersRCV000186501 RCV000441199 RCV000702038

NM_004369.4(COL6A3):c.6283-2A>C

SNV
Germline

Chr2:237359390

Likely pathogenic

Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A

No Assertion Criteria Provided

CA275964

rs_797044988

1 SubmittersRCV000190463

NM_004369.4(COL6A3):c.4888C>T (p.Pro1630Ser)

SNV
Germline

Chr2:237368575

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA209210

rs_145560772

5 SubmittersRCV000194796 RCV000725387 RCV000693810

NM_001848.3(COL6A1):c.1003-2A>G

SNV
Germline

Chr21:45990771

Pathogenic

Myopathy
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA208649

rs_797045477

2 SubmittersRCV000194464 RCV001051037

NM_001848.3(COL6A1):c.2573G>A (p.Arg858His)

SNV
Germline

Chr21:46003499

Conflicting classifications of pathogenicity

not specified
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA205352

rs_537763400

2 SubmittersRCV000192499 RCV001069846

NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val)

SNV
Germline

Chr21:46132125

Conflicting classifications of pathogenicity

Myopathy
Condition: not provided
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Conflicting Classifications

CA208217

rs_774521989

6 SubmittersRCV000194202 RCV000266193 RCV000546019 RCV002227456

NM_001849.4(COL6A2):c.2096G>A (p.Gly699Asp)

SNV
Germline

Chr21:46125911

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA278956

rs_863224861

3 SubmittersRCV000197493 RCV000593438

NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile)

SNV
Germline

Chr2:237372011

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA248984

rs_144051775

6 SubmittersRCV000202790 RCV000539163 RCV001083049 RCV004553105

NM_004369.4(COL6A3):c.8168T>C (p.Ile2723Thr)

SNV
Germline

Chr2:237340748

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2187607

rs_373108028

4 SubmittersRCV000233428 RCV000327869 RCV000686686 RCV001589105

NM_004369.4(COL6A3):c.7264C>T (p.Arg2422Ter)

SNV
Germline

Chr2:237344754

Pathogenic/Likely pathogenic

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10575974

rs_878854379

3 SubmittersRCV000232617 RCV001781634

NM_004369.4(COL6A3):c.2218C>T (p.Arg740Cys)

SNV
Germline

Chr2:237378915

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189454

rs_147182340

4 SubmittersRCV000234678 RCV000726452 RCV002517430

NM_001849.4(COL6A2):c.954G>T (p.Lys318Asn)

SNV
Germline

Chr21:46116677

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10575985

rs_878854362

2 SubmittersRCV000230758

NM_001849.4(COL6A2):c.1358G>A (p.Arg453His)

SNV
Germline

Chr21:46120540

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10575986

rs_878854386

6 SubmittersRCV000234070 RCV000726521 RCV000685020

NM_004369.4(COL6A3):c.6754-9C>G

SNV
Germline

Chr2:237351201

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10586821

rs_886038542

3 SubmittersRCV000253304 RCV000726944 RCV002058156

NM_004369.4(COL6A3):c.5139G>A (p.Gly1713=)

SNV
Germline

Chr2:237367048

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188735

rs_114338020

3 SubmittersRCV000249031 RCV000726380 RCV001089254

NM_004369.4(COL6A3):c.4849G>A (p.Ala1617Thr)

SNV
Germline

Chr2:237368614

Conflicting classifications of pathogenicity

not specified
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2188802

rs_200433282

4 SubmittersRCV000243769 RCV000543223 RCV000727538

NM_004369.4(COL6A3):c.4011G>A (p.Pro1337=)

SNV
Germline

Chr2:237372006

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189018

rs_114498197

3 SubmittersRCV000248967 RCV000731459 RCV001087220

NM_004369.4(COL6A3):c.3324C>T (p.Thr1108=)

SNV
Germline

Chr2:237374767

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189187

rs_116239777

5 SubmittersRCV000243650 RCV000298696 RCV000730383 RCV001081211

NM_004369.4(COL6A3):c.2674G>A (p.Glu892Lys)

SNV
Germline

Chr2:237377168

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189345

rs_760380736

4 SubmittersRCV000242993 RCV000725228 RCV001141744 RCV001326529

NM_004369.4(COL6A3):c.1056C>T (p.Leu352=)

SNV
Germline

Chr2:237387838

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189719

rs_78365682

3 SubmittersRCV000252161 RCV000730871 RCV001089253

NM_004369.4(COL6A3):c.576G>T (p.Pro192=)

SNV
Germline

Chr2:237394720

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189834

rs_141560881

3 SubmittersRCV000254299 RCV000732973 RCV001443936

NM_004369.4(COL6A3):c.489G>A (p.Ala163=)

SNV
Germline

Chr2:237394807

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189852

rs_148970984

8 SubmittersRCV000249125 RCV000277710 RCV000725060 RCV001084055

NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His)

SNV
Germline

Chr6:75087675

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3892023

rs_41266761

11 SubmittersRCV000248918 RCV000488209 RCV001082633 RCV000987739 RCV002519921

NM_004370.6(COL12A1):c.7898T>C (p.Val2633Ala)

SNV
Germline

Chr6:75113256

Conflicting classifications of pathogenicity

not specified
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
See cases

Criteria Provided
Conflicting Classifications

CA3892432

rs_200408101

5 SubmittersRCV000251433 RCV000541900 RCV001764233 RCV002252066

NM_001848.3(COL6A1):c.423C>T (p.Leu141=)

SNV
Germline

Chr21:45984464

Conflicting classifications of pathogenicity

not specified
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10069561

rs_373486149

4 SubmittersRCV000250435 RCV000525643 RCV000726612

NM_001848.3(COL6A1):c.993C>T (p.Asp331=)

SNV
Germline

Chr21:45990413

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069952

rs_373948031

3 SubmittersRCV000252571 RCV000725103 RCV001088716

NM_001848.3(COL6A1):c.1584G>A (p.Pro528=)

SNV
Germline

Chr21:45998406

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070429

rs_139243418

5 SubmittersRCV000253295 RCV000263375 RCV000725628 RCV001082388

NM_001848.3(COL6A1):c.1671C>T (p.Asp557=)

SNV
Germline

Chr21:45998956

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070466

rs_770099663

4 SubmittersRCV000250549 RCV000278752 RCV000725820 RCV002058079

NM_001848.3(COL6A1):c.2418C>T (p.Thr806=)

SNV
Germline

Chr21:46002694

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070857

rs_760768642

3 SubmittersRCV000254096 RCV000725002 RCV001078632

NM_001848.3(COL6A1):c.2512G>A (p.Ala838Thr)

SNV
Germline

Chr21:46003438

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10070947

rs_529770550

4 SubmittersRCV000247019 RCV000766392 RCV001854959 RCV004021007

NM_001848.3(COL6A1):c.2709C>T (p.Ala903=)

SNV
Germline

Chr21:46003635

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071007

rs_139018148

3 SubmittersRCV000254253 RCV000726190 RCV001486603

NM_001849.4(COL6A2):c.2031C>T (p.Asp677=)

SNV
Germline

Chr21:46125846

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072418

rs_759646708

3 SubmittersRCV000245843 RCV000725361 RCV001506284

NM_001849.4(COL6A2):c.1970-9G>A

SNV
Germline

Chr21:46125776

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A
Bethlem myopathy
Hip flexor weakness
Congenital hip dislocation
Muscle weakness
Difficulty walking
Falls
Qualitative or quantitative defects of collagen 6
Ullrich congenital muscular dystrophy 1A
Abnormality of the musculature
Ullrich congenital muscular dystrophy 1B

Criteria Provided
Conflicting Classifications

CA10072396

rs_747900252

18 SubmittersRCV000255313 RCV000354105 RCV000556474 RCV001261891 RCV000626815 RCV000844694 RCV002227463 RCV001814135 RCV003989514

NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro)

SNV
Germline

Chr21:46132386

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Conflicting Classifications

CA10588713

rs_201854898

5 SubmittersRCV000254951 RCV000560338 RCV002227464

NM_004369.4(COL6A3):c.3844G>A (p.Val1282Met)

SNV
Germline

Chr2:237372173

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Collagen 6-related myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2189061

rs_535661345

4 SubmittersRCV000256486 RCV000291174 RCV000498501

NM_004369.4(COL6A3):c.6158G>T (p.Gly2053Val)

SNV
Germline

Chr2:237361173

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10602841

rs_886041329

3 SubmittersRCV000334260 RCV001059032

NM_001848.3(COL6A1):c.842G>A (p.Gly281Glu)

SNV
Germline

Chr21:45989121

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10603503

rs_886041383

2 SubmittersRCV000387642 RCV001855058

NM_001849.4(COL6A2):c.2422+1G>A

SNV
Germline

Chr21:46126238

Pathogenic

Condition: not provided
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10603558

rs_113828929

5 SubmittersRCV000332897 RCV000985002 RCV003326395

NM_001849.4(COL6A2):c.2582G>A (p.Arg861Gln)

SNV
Germline

Chr21:46132074

Conflicting classifications of pathogenicity

Myosclerosis
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072935

rs_373813975

4 SubmittersRCV000285371 RCV000377482 RCV000400296 RCV001087885

NM_001849.4(COL6A2):c.2844G>A (p.Thr948=)

SNV
Germline

Chr21:46132336

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10073050

rs_757818559

2 SubmittersRCV000345672 RCV001855079

NM_001848.3(COL6A1):c.1298G>A (p.Arg433Gln)

SNV
Germline

Chr21:45992773

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
not specified
Bethlem myopathy 1A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10070229

rs_151158105

6 SubmittersRCV000280526 RCV000403757 RCV000548930 RCV001265659 RCV001311580

NM_004369.4(COL6A3):c.2343G>A (p.Ala781=)

SNV
Germline

Chr2:237378790

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189424

rs_561804945

3 SubmittersRCV000335355 RCV000724641 RCV001475458

NM_001848.3(COL6A1):c.665G>A (p.Arg222His)

SNV
Germline

Chr21:45987020

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
not specified

Criteria Provided
Conflicting Classifications

CA10069645

rs_780638665

3 SubmittersRCV000379667 RCV000819388 RCV003401233

NM_004369.4(COL6A3):c.3852C>T (p.Phe1284=)

SNV
Germline

Chr2:237372165

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189060

rs_148561729

3 SubmittersRCV000325567 RCV000724849 RCV002059073

NM_001848.3(COL6A1):c.1555G>A (p.Glu519Lys)

SNV
Germline

Chr21:45998151

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070396

rs_754384963

4 SubmittersRCV000330732 RCV000368419 RCV000821708

NM_004369.4(COL6A3):c.7173C>T (p.Tyr2391=)

SNV
Germline

Chr2:237344942

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187879

rs_114248590

3 SubmittersRCV000324903 RCV001138707 RCV001088226

NM_001848.3(COL6A1):c.2050G>T (p.Val684Leu)

SNV
Germline

Chr21:46002054

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070733

rs_138312247

3 SubmittersRCV000386541 RCV001855086

NM_001848.3(COL6A1):c.1399-3C>T

SNV
Germline

Chr21:45997418

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070292

rs_200095847

5 SubmittersRCV000366066 RCV000724951 RCV001037986

NM_001848.3(COL6A1):c.1525-9C>T

SNV
Germline

Chr21:45998112

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070389

rs_768508076

3 SubmittersRCV000260645 RCV000724962 RCV001503629

NM_004369.4(COL6A3):c.5833G>C (p.Val1945Leu)

SNV
Germline

Chr2:237365703

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188570

rs_113332380

8 SubmittersRCV000404804 RCV000585228 RCV001088919

NM_001848.3(COL6A1):c.2637C>T (p.Ser879=)

SNV
Germline

Chr21:46003563

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070986

rs_540554122

3 SubmittersRCV000317171 RCV000365714 RCV001087125

NM_004369.4(COL6A3):c.1120G>A (p.Val374Met)

SNV
Germline

Chr2:237387774

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189701

rs_780353083

3 SubmittersRCV000316225 RCV000526526

NM_004369.4(COL6A3):c.290G>A (p.Arg97His)

SNV
Germline

Chr2:237395006

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189895

rs_201249839

5 SubmittersRCV000295547 RCV000808592 RCV002518832

NM_001848.3(COL6A1):c.957+7G>A

SNV
Germline

Chr21:45990291

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069919

rs_764488809

2 SubmittersRCV000368267 RCV001424788

NM_001848.3(COL6A1):c.1015T>C (p.Tyr339His)

SNV
Germline

Chr21:45990785

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10070036

rs_186775751

3 SubmittersRCV000319412 RCV000794729 RCV002519102

NM_001849.4(COL6A2):c.2960C>T (p.Thr987Met)

SNV
Germline

Chr21:46132452

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10073115

rs_199955442

4 SubmittersRCV000312881 RCV000653564

NM_001849.4(COL6A2):c.3018G>A (p.Ala1006=)

SNV
Germline

Chr21:46132510

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10073141

rs_61735832

3 SubmittersRCV000724993 RCV001087941

NM_001849.4(COL6A2):c.2935G>A (p.Asp979Asn)

SNV
Germline

Chr21:46132427

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA10073105

rs_141579198

6 SubmittersRCV000353251 RCV000653559 RCV001141921

NM_004369.4(COL6A3):c.1961A>G (p.Asn654Ser)

SNV
Germline

Chr2:237379172

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189505

rs_144501019

3 SubmittersRCV000281298 RCV001226883

NM_004369.4(COL6A3):c.2525T>C (p.Phe842Ser)

SNV
Germline

Chr2:237377317

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
not specified

Criteria Provided
Conflicting Classifications

CA2189376

rs_369930821

5 SubmittersRCV000287686 RCV001301947 RCV003330620

NM_004369.4(COL6A3):c.4662C>T (p.Asp1554=)

SNV
Germline

Chr2:237368801

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188848

rs_764225803

3 SubmittersRCV000296563 RCV001486632

NM_001849.4(COL6A2):c.1496G>A (p.Gly499Glu)

SNV
Germline

Chr21:46121593

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10604094

rs_886042332

2 SubmittersRCV000388801 RCV000653599

NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg)

SNV
Germline

Chr21:46112374

Conflicting classifications of pathogenicity

Myosclerosis
Collagen 6-related myopathy
COL6A2-related disorder
Condition: not provided
Bethlem myopathy 1A
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA10071315

rs_200710788

10 SubmittersRCV000329881 RCV000386454 RCV000723333 RCV000725047 RCV001257054 RCV002227938

NM_004369.4(COL6A3):c.7607C>T (p.Ala2536Val)

SNV
Germline

Chr2:237344411

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A
COL6A3-related disorder
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Conflicting Classifications

CA2187767

rs_769072338

7 SubmittersRCV000328641 RCV000341324 RCV001204637 RCV004547666 RCV003137882

NM_004369.4(COL6A3):c.5953G>A (p.Val1985Met)

SNV
Germline

Chr2:237363363

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188513

rs_200478135

3 SubmittersRCV000367029 RCV000653516

NM_001849.4(COL6A2):c.2182G>A (p.Val728Met)

SNV
Germline

Chr21:46125997

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Myosclerosis
Condition: not provided
Bethlem myopathy 1A
not specified

Criteria Provided
Conflicting Classifications

CA10072462

rs_200585528

6 SubmittersRCV000300120 RCV000359590 RCV000363018 RCV001085703 RCV001731555

NM_001849.4(COL6A2):c.1152G>A (p.Pro384=)

SNV
Germline

Chr21:46118649

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071723

rs_148423929

2 SubmittersRCV000393107 RCV001089055

NM_001849.4(COL6A2):c.1817-8C>A

SNV
Germline

Chr21:46125457

Conflicting classifications of pathogenicity

Myosclerosis
Collagen 6-related myopathy
Condition: not provided
not specified
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072292

rs_750444649

4 SubmittersRCV000287971 RCV000347425 RCV000366940 RCV000784948 RCV001078904

NM_004369.4(COL6A3):c.1007G>A (p.Arg336Gln)

SNV
Germline

Chr2:237387887

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189728

rs_745667305

2 SubmittersRCV000354532 RCV001224663

NM_004369.4(COL6A3):c.7983C>T (p.Phe2661=)

SNV
Germline

Chr2:237340933

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187647

rs_375222168

4 SubmittersRCV000283574 RCV001469269

NM_001849.4(COL6A2):c.2536G>A (p.Glu846Lys)

SNV
Germline

Chr21:46132028

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072920

rs_772005975

4 SubmittersRCV000362949 RCV001855103

NM_001848.3(COL6A1):c.2358C>T (p.Leu786=)

SNV
Germline

Chr21:46002634

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10604170

rs_886042391

2 SubmittersRCV000297131 RCV001085169

NM_004369.4(COL6A3):c.7030-4C>G

SNV
Germline

Chr2:237346569

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10604176

rs_886042395

2 SubmittersRCV000377976 RCV001405636

NM_001849.4(COL6A2):c.472G>A (p.Val158Met)

SNV
Germline

Chr21:46112335

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071306

rs_201792591

2 SubmittersRCV000368026 RCV002518853

NM_004369.4(COL6A3):c.958G>A (p.Ala320Thr)

SNV
Germline

Chr2:237387936

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
not specified
Bethlem myopathy 1A
Dystonia 27
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Dystonia 27

Criteria Provided
Conflicting Classifications

CA2189740

rs_115819851

5 SubmittersRCV000303951 RCV000380084 RCV000543340 RCV002295295 RCV002494822

NM_004369.4(COL6A3):c.11A>T (p.His4Leu)

SNV
Germline

Chr2:237396807

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10604184

rs_777465480

2 SubmittersRCV000326714 RCV001320936

NM_001849.4(COL6A2):c.568G>A (p.Val190Met)

SNV
Germline

Chr21:46112431

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Myosclerosis
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071340

rs_150877061

5 SubmittersRCV000302508 RCV000341130 RCV000386408 RCV001086405

NM_001849.4(COL6A2):c.169G>A (p.Val57Ile)

SNV
Germline

Chr21:46112032

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Bethlem myopathy 1A
Myosclerosis
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Conflicting Classifications

CA10071224

rs_768434256

4 SubmittersRCV000368110 RCV001045882 RCV000764266

NM_004369.4(COL6A3):c.7113C>T (p.Gly2371=)

SNV
Germline

Chr2:237345193

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187924

rs_375729592

2 SubmittersRCV000346340 RCV001078911

NM_001848.3(COL6A1):c.1122C>T (p.Gly374=)

SNV
Germline

Chr21:45992012

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A1-related disorder

Criteria Provided
Conflicting Classifications

CA10070113

rs_373535692

4 SubmittersRCV000397174 RCV000702543 RCV004543005

NM_001848.3(COL6A1):c.556G>C (p.Val186Leu)

SNV
Germline

Chr21:45986653

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10604197

rs_886042409

2 SubmittersRCV000322847 RCV002521881

NM_001848.3(COL6A1):c.705C>T (p.Ile235=)

SNV
Germline

Chr21:45987060

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069652

rs_536786554

2 SubmittersRCV000379675 RCV001088768

NM_004369.4(COL6A3):c.3555C>T (p.Ala1185=)

SNV
Germline

Chr2:237374536

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2189145

rs_373719229

3 SubmittersRCV000332151 RCV001434550 RCV004547668

NM_001849.4(COL6A2):c.1130G>A (p.Arg377His)

SNV
Germline

Chr21:46118627

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071716

rs_148552966

4 SubmittersRCV000343634 RCV000699520

NM_001848.3(COL6A1):c.1254C>T (p.Asp418=)

SNV
Germline

Chr21:45992380

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070195

rs_148630223

3 SubmittersRCV000294194 RCV000397306 RCV001081636

NM_001848.3(COL6A1):c.1022G>T (p.Gly341Val)

SNV
Germline

Chr21:45990792

Pathogenic

Bethlem myopathy 1A
Condition: not provided
COL6A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10604208

rs_121912935

4 SubmittersRCV000267474 RCV000521707 RCV004535283

NM_001848.3(COL6A1):c.1829A>C (p.Lys610Thr)

SNV
Germline

Chr21:46001259

Conflicting classifications of pathogenicity

not specified
Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10070637

rs_768906709

6 SubmittersRCV000264328 RCV000691051 RCV000725110 RCV002518857

NM_004369.4(COL6A3):c.6654G>A (p.Pro2218=)

SNV
Germline

Chr2:237353377

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA2188145

rs_147537071

4 SubmittersRCV000280233 RCV001080968 RCV001143144

NM_001848.3(COL6A1):c.996C>T (p.Gly332=)

SNV
Germline

Chr21:45990416

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069954

rs_11702055

4 SubmittersRCV000725117 RCV001087678

NM_004369.4(COL6A3):c.2261A>G (p.Gln754Arg)

SNV
Germline

Chr2:237378872

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189440

rs_762752112

3 SubmittersRCV000382434 RCV001136988 RCV003517165

NM_004369.4(COL6A3):c.759C>T (p.Thr253=)

SNV
Germline

Chr2:237388135

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189785

rs_376087730

4 SubmittersRCV000290437 RCV000298936 RCV000725119 RCV001084512

NM_004369.4(COL6A3):c.1975C>T (p.Arg659Cys)

SNV
Germline

Chr2:237379158

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189504

rs_146291186

6 SubmittersRCV000319603 RCV000725122 RCV001243245

NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln)

SNV
Germline

Chr2:237372115

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Bethlem myopathy 1A
Dystonia 27
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA2189048

rs_148038440

6 SubmittersRCV000653522 RCV000725141 RCV001824721 RCV001139021

NM_004369.4(COL6A3):c.5839-3C>T

SNV
Germline

Chr2:237364431

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Muscular dystrophy
Collagen 6-related myopathy
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2188551

rs_112825341

8 SubmittersRCV000556869 RCV000725144 RCV000993847 RCV001138822 RCV004547672

NM_004369.4(COL6A3):c.9117G>A (p.Thr3039=)

SNV
Germline

Chr2:237334738

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187356

rs_376780810

2 SubmittersRCV000259559 RCV002518863

NM_004369.4(COL6A3):c.9524T>C (p.Met3175Thr)

SNV
Germline

Chr2:237324784

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
not specified
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2187232

rs_148183839

8 SubmittersRCV000280523 RCV000443634 RCV000375535 RCV001089085 RCV004547673

NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly)

SNV
Germline

Chr21:45991037

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070083

rs_149338158

7 SubmittersRCV000272761 RCV000401661 RCV001079041

NM_004369.4(COL6A3):c.552G>A (p.Ala184=)

SNV
Germline

Chr2:237394744

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189839

rs_542204130

3 SubmittersRCV000320121 RCV001078852

NM_001849.4(COL6A2):c.1963G>A (p.Glu655Lys)

SNV
Germline

Chr21:46125611

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072348

rs_771886065

2 SubmittersRCV000283767 RCV002059121

NM_001848.3(COL6A1):c.2595G>A (p.Thr865=)

SNV
Germline

Chr21:46003521

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070970

rs_367832752

3 SubmittersRCV000359853 RCV000363076 RCV001089272

NM_004369.4(COL6A3):c.2864G>A (p.Arg955His)

SNV
Germline

Chr2:237376978

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189307

rs_112172548

4 SubmittersRCV000347536 RCV000689418

NM_001848.3(COL6A1):c.539A>G (p.Lys180Arg)

SNV
Germline

Chr21:45986636

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069599

rs_756141940

4 SubmittersRCV000396281 RCV001140700 RCV001081124

NM_001849.4(COL6A2):c.446G>A (p.Arg149His)

SNV
Germline

Chr21:46112309

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071293

rs_143891262

4 SubmittersRCV000372608 RCV001143206 RCV001070638

NM_004369.4(COL6A3):c.6930+4C>T

SNV
Germline

Chr2:237348609

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA2188022

rs_375657891

5 SubmittersRCV000550179 RCV000725202 RCV001141289

NM_004369.4(COL6A3):c.2180A>C (p.Tyr727Ser)

SNV
Germline

Chr2:237378953

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189462

rs_113393241

4 SubmittersRCV000286708 RCV001246875

NM_004369.4(COL6A3):c.7953G>A (p.Met2651Ile)

SNV
Germline

Chr2:237340963

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187653

rs_369537287

2 SubmittersRCV000313443 RCV001078995

NM_001849.4(COL6A2):c.1530C>T (p.Pro510=)

SNV
Germline

Chr21:46122116

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071968

rs_199842179

2 SubmittersRCV000265309 RCV002059122

NM_001849.4(COL6A2):c.1609-7G>A

SNV
Germline

Chr21:46122868

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072061

rs_555312732

2 SubmittersRCV000321947 RCV001451998

NM_001849.4(COL6A2):c.2985C>T (p.Ala995=)

SNV
Germline

Chr21:46132477

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Myosclerosis
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10073127

rs_752243349

3 SubmittersRCV000342638 RCV000372671 RCV000398389 RCV002059124

NM_001848.3(COL6A1):c.2156C>T (p.Pro719Leu)

SNV
Germline

Chr21:46002307

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070782

rs_753759904

3 SubmittersRCV000285506 RCV000329027 RCV001859574

NM_001848.3(COL6A1):c.1908C>G (p.Asp636Glu)

SNV
Germline

Chr21:46001338

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10604415

rs_886042572

3 SubmittersRCV000289318 RCV000653576

NM_004369.4(COL6A3):c.1087C>T (p.Arg363Cys)

SNV
Germline

Chr2:237387807

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189712

rs_759280111

3 SubmittersRCV000263531 RCV001312761

NM_001848.3(COL6A1):c.751G>A (p.Glu251Lys)

SNV
Germline

Chr21:45987511

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069713

rs_145849970

6 SubmittersRCV000344836 RCV000384249 RCV001054436

NM_001849.4(COL6A2):c.2893C>T (p.Arg965Cys)

SNV
Germline

Chr21:46132385

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Conflicting Classifications

CA10073082

rs_201188174

7 SubmittersRCV000363837 RCV000653524 RCV001141920 RCV003338498

NM_004369.4(COL6A3):c.9358A>C (p.Thr3120Pro)

SNV
Germline

Chr2:237325695

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2187284

rs_141050617

5 SubmittersRCV000329137 RCV000795886 RCV004547678

NM_004369.4(COL6A3):c.1216C>T (p.Arg406Cys)

SNV
Germline

Chr2:237387678

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
COL6A3-related phenotype
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189681

rs_112817175

6 SubmittersRCV000294221 RCV000308759 RCV000984978 RCV001052126

NM_001849.4(COL6A2):c.2361G>A (p.Thr787=)

SNV
Germline

Chr21:46126176

Conflicting classifications of pathogenicity

not specified
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10604450

rs_566966690

3 SubmittersRCV000384792 RCV001087272 RCV000725249

NM_001849.4(COL6A2):c.828G>A (p.Pro276=)

SNV
Germline

Chr21:46115898

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071484

rs_140790797

2 SubmittersRCV000334522 RCV001086551

NM_004369.4(COL6A3):c.936C>T (p.Leu312=)

SNV
Germline

Chr2:237387958

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189743

rs_377629176

2 SubmittersRCV000402653 RCV001079095

NM_004369.4(COL6A3):c.1217G>A (p.Arg406His)

SNV
Germline

Chr2:237387677

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189680

rs_753651742

2 SubmittersRCV000404558 RCV001855121

NM_001849.4(COL6A2):c.84G>A (p.Pro28=)

SNV
Germline

Chr21:46111560

Conflicting classifications of pathogenicity

Myosclerosis
not specified
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10071173

rs_140890046

5 SubmittersRCV000289005 RCV000387663 RCV000381103 RCV000725254 RCV001087725 RCV004543021

NM_004369.4(COL6A3):c.9209A>G (p.Tyr3070Cys)

SNV
Germline

Chr2:237334646

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187330

rs_368568929

3 SubmittersRCV000349824 RCV000689510

NM_001849.4(COL6A2):c.1269+7C>T

SNV
Germline

Chr21:46119126

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071794

rs_751071208

2 SubmittersRCV000352654 RCV003631102

NM_001848.3(COL6A1):c.2910C>T (p.Phe970=)

SNV
Germline

Chr21:46003836

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071070

rs_759623301

2 SubmittersRCV000310320 RCV001399269

NM_001848.3(COL6A1):c.2875G>A (p.Val959Met)

SNV
Germline

Chr21:46003801

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA10071058

rs_200959957

4 SubmittersRCV000274997 RCV000553291 RCV000393046

NM_004369.4(COL6A3):c.4065G>A (p.Pro1355=)

SNV
Germline

Chr2:237371952

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189002

rs_766856187

2 SubmittersRCV000340797 RCV003517167

NM_001848.3(COL6A1):c.784C>T (p.Arg262Trp)

SNV
Germline

Chr21:45987634

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069750

rs_752259110

3 SubmittersRCV000399914 RCV002518884

NM_004369.4(COL6A3):c.1623C>T (p.Ala541=)

SNV
Germline

Chr2:237381189

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2189578

rs_114144694

6 SubmittersRCV000309895 RCV000329710 RCV001082018 RCV004547683

NM_001849.4(COL6A2):c.2798G>A (p.Arg933His)

SNV
Germline

Chr21:46132290

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA10073026

rs_374384263

4 SubmittersRCV000276018 RCV000553120 RCV001139298

NM_001848.3(COL6A1):c.914G>A (p.Gly305Glu)

SNV
Germline

Chr21:45989762

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10604561

rs_886042684

3 SubmittersRCV000272645 RCV001379719

NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg)

SNV
Germline

Chr21:45998425

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy
not specified

Criteria Provided
Conflicting Classifications

CA10070437

rs_764556767

4 SubmittersRCV000293620 RCV000402786 RCV001563598 RCV003479091

NM_004369.4(COL6A3):c.1263C>T (p.Gly421=)

SNV
Germline

Chr2:237387631

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA2189672

rs_775821966

3 SubmittersRCV000309764 RCV001082727 RCV001137102

NM_001848.3(COL6A1):c.2285T>C (p.Phe762Ser)

SNV
Germline

Chr21:46002561

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10604568

rs_886042688

3 SubmittersRCV000274606 RCV001855128

NM_004369.4(COL6A3):c.8978G>A (p.Arg2993His)

SNV
Germline

Chr2:237334877

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
not specified
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2187389

rs_201888442

6 SubmittersRCV000658012 RCV001082829 RCV003488497 RCV004547684

NM_001848.3(COL6A1):c.666C>T (p.Arg222=)

SNV
Germline

Chr21:45987021

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069646

rs_372581026

4 SubmittersRCV000725328 RCV001085391

NM_001849.4(COL6A2):c.901G>A (p.Gly301Ser)

SNV
Germline

Chr21:46116377

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10604587

rs_886042705

3 SubmittersRCV000337509 RCV002518892

NM_001848.3(COL6A1):c.763G>A (p.Ala255Thr)

SNV
Germline

Chr21:45987613

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069743

rs_145473829

3 SubmittersRCV000276804 RCV000704001

NM_001849.4(COL6A2):c.1332+10C>T

SNV
Germline

Chr21:46119860

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10604632

rs_886042745

2 SubmittersRCV000380258 RCV001088912

NM_004369.4(COL6A3):c.9130G>A (p.Val3044Ile)

SNV
Germline

Chr2:237334725

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2187351

rs_374628435

3 SubmittersRCV000356914 RCV001242146 RCV003165732

NM_001849.4(COL6A2):c.786C>G (p.Gly262=)

SNV
Germline

Chr21:46114058

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071454

rs_145500808

3 SubmittersRCV000287924 RCV001504105

NM_004369.4(COL6A3):c.8256G>A (p.Leu2752=)

SNV
Germline

Chr2:237340660

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2187589

rs_769124771

3 SubmittersRCV000330418 RCV002059143 RCV004547685

NM_001849.4(COL6A2):c.1060G>A (p.Asp354Asn)

SNV
Germline

Chr21:46117880

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10071676

rs_188184732

4 SubmittersRCV000280808 RCV000821673 RCV004535311

NM_001848.3(COL6A1):c.1437C>T (p.Gly479=)

SNV
Germline

Chr21:45997459

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A1-related disorder

Criteria Provided
Conflicting Classifications

CA10070301

rs_762625409

5 SubmittersRCV000338149 RCV001043855 RCV004543036

NM_004369.4(COL6A3):c.6817-6G>A

SNV
Germline

Chr2:237350215

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10604667

rs_886042773

2 SubmittersRCV000364851 RCV003631103

NM_004369.4(COL6A3):c.9180C>G (p.Cys3060Trp)

SNV
Germline

Chr2:237334675

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187338

rs_376939353

3 SubmittersRCV000339597 RCV001364006

NM_004369.4(COL6A3):c.2219G>A (p.Arg740His)

SNV
Germline

Chr2:237378914

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189453

rs_529827991

2 SubmittersRCV000406679 RCV000793471

NM_001848.3(COL6A1):c.623C>T (p.Thr208Met)

SNV
Germline

Chr21:45986978

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10069636

rs_372199631

5 SubmittersRCV000379600 RCV000694197 RCV001142578 RCV004021149

NM_004369.4(COL6A3):c.8636C>T (p.Thr2879Met)

SNV
Germline

Chr2:237336464

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2187481

rs_150907698

6 SubmittersRCV000312116 RCV000558809 RCV000725390

NM_001848.3(COL6A1):c.525T>A (p.Ala175=)

SNV
Germline

Chr21:45986622

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069596

rs_761552446

2 SubmittersRCV000270567 RCV002518907

NM_001848.3(COL6A1):c.1043C>T (p.Ser348Leu)

SNV
Germline

Chr21:45990813

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
not specified
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10070040

rs_142882745

6 SubmittersRCV000267314 RCV000323225 RCV000653553 RCV000725393

NM_001849.4(COL6A2):c.2433C>T (p.Ile811=)

SNV
Germline

Chr21:46126513

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072620

rs_776788517

2 SubmittersRCV000281842 RCV002059146

NM_004369.4(COL6A3):c.3199G>A (p.Val1067Met)

SNV
Germline

Chr2:237374892

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189218

rs_148175795

6 SubmittersRCV000390311 RCV000692494 RCV001329868 RCV004021151

NM_004369.4(COL6A3):c.843G>T (p.Val281=)

SNV
Germline

Chr2:237388051

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189765

rs_376201065

3 SubmittersRCV000267201 RCV001079541

NM_001848.3(COL6A1):c.2890C>T (p.Arg964Trp)

SNV
Germline

Chr21:46003816

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10071064

rs_375007666

4 SubmittersRCV000306204 RCV000803200 RCV003352820

NM_001848.3(COL6A1):c.2662C>T (p.Arg888Trp)

SNV
Germline

Chr21:46003588

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10070995

rs_368307185

6 SubmittersRCV000296391 RCV000326450 RCV001206342 RCV002519143

NM_004369.4(COL6A3):c.7645C>A (p.Arg2549=)

SNV
Germline

Chr2:237344373

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2187758

rs_151079701

3 SubmittersRCV000367299 RCV001084883 RCV004547686

NM_001848.3(COL6A1):c.356C>T (p.Ala119Val)

SNV
Germline

Chr21:45984397

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069545

rs_571641824

2 SubmittersRCV000327710 RCV000559973

NM_004369.4(COL6A3):c.4448A>T (p.Asp1483Val)

SNV
Germline

Chr2:237369015

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188893

rs_114736729

3 SubmittersRCV000396878 RCV001041627

NM_001848.3(COL6A1):c.1352A>G (p.Gln451Arg)

SNV
Germline

Chr21:45994183

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070260

rs_764235653

3 SubmittersRCV000328793 RCV001855140

NM_004369.4(COL6A3):c.3045A>G (p.Ser1015=)

SNV
Germline

Chr2:237376797

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10604747

rs_886042836

2 SubmittersRCV000385097 RCV001500521

NM_001848.3(COL6A1):c.1233C>T (p.Asp411=)

SNV
Germline

Chr21:45992214

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070165

rs_140478280

2 SubmittersRCV000381187 RCV001078535

NM_004369.4(COL6A3):c.6354+1G>T

SNV
Germline

Chr2:237359205

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10604809

rs_886042883

2 SubmittersRCV000305531 RCV001859603

NM_004369.4(COL6A3):c.3852C>A (p.Phe1284Leu)

SNV
Germline

Chr2:237372165

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189059

rs_148561729

4 SubmittersRCV000343308 RCV000385431 RCV000653569

NM_004369.4(COL6A3):c.3699C>T (p.Asp1233=)

SNV
Germline

Chr2:237372318

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189094

rs_542411896

4 SubmittersRCV000308404 RCV001088130

NM_001848.3(COL6A1):c.1602C>T (p.Pro534=)

SNV
Germline

Chr21:45998424

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070435

rs_143755280

3 SubmittersRCV000362676 RCV000553483

NM_001848.3(COL6A1):c.325G>A (p.Gly109Ser)

SNV
Germline

Chr21:45984366

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10604838

rs_368580280

2 SubmittersRCV000369448 RCV000653515

NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys)

SNV
Germline

Chr2:237361132

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Conflicting Classifications

CA2188419

rs_760446904

8 SubmittersRCV000494333 RCV000817700 RCV002227468

NM_001849.4(COL6A2):c.1489C>A (p.Pro497Thr)

SNV
Germline

Chr21:46121586

Conflicting classifications of pathogenicity

Myosclerosis
Collagen 6-related myopathy
not specified
Condition: not provided
Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10071916

rs_75581470

5 SubmittersRCV000270832 RCV000325923 RCV000329762 RCV000766751 RCV001087788 RCV004543048

NM_001848.3(COL6A1):c.2803G>A (p.Ala935Thr)

SNV
Germline

Chr21:46003729

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071038

rs_766416007

2 SubmittersRCV000384266 RCV000799758

NM_001848.3(COL6A1):c.930+1G>A

SNV
Germline

Chr21:45989779

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A
COL6A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10604839

rs_886042902

3 SubmittersRCV000341706 RCV001390831 RCV004535324

NM_001848.3(COL6A1):c.285C>G (p.Asp95Glu)

SNV
Germline

Chr21:45984326

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069517

rs_145811554

3 SubmittersRCV000375024 RCV000694699

NM_001848.3(COL6A1):c.957+6C>G

SNV
Germline

Chr21:45990290

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10604845

rs_374926748

2 SubmittersRCV000344844 RCV001219815

NM_004369.4(COL6A3):c.6898G>A (p.Gly2300Arg)

SNV
Germline

Chr2:237348645

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188030

rs_763348222

3 SubmittersRCV000286359 RCV000538135

NM_001849.4(COL6A2):c.1828C>T (p.Arg610Cys)

SNV
Germline

Chr21:46125476

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072303

rs_748283415

3 SubmittersRCV000299418 RCV001855143

NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg)

SNV
Germline

Chr21:46126012

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Myosclerosis
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10604873

rs_886042922

8 SubmittersRCV000337022 RCV000477924 RCV001303665 RCV001265687

NM_001849.4(COL6A2):c.785G>A (p.Gly262Asp)

SNV
Germline

Chr21:46114057

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10604901

rs_886042943

3 SubmittersRCV000384759 RCV001216066

NM_004369.4(COL6A3):c.3445C>T (p.Arg1149Trp)

SNV
Germline

Chr2:237374646

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2189167

rs_113360085

6 SubmittersRCV000405233 RCV000689188 RCV000725525

NM_004369.4(COL6A3):c.6897C>T (p.Asp2299=)

SNV
Germline

Chr2:237348646

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188031

rs_764508785

2 SubmittersRCV000326108 RCV002518948

NM_004369.4(COL6A3):c.1214T>C (p.Phe405Ser)

SNV
Germline

Chr2:237387680

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189682

rs_114549120

3 SubmittersRCV000363238 RCV001083457

NM_004369.4(COL6A3):c.7832C>T (p.Ala2611Val)

SNV
Germline

Chr2:237341084

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA2187688

rs_114806654

3 SubmittersRCV000265030 RCV001068819 RCV001141187

NM_001849.4(COL6A2):c.672C>T (p.Thr224=)

SNV
Germline

Chr21:46112535

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071370

rs_759388890

2 SubmittersRCV000259339 RCV001078558

NM_004369.4(COL6A3):c.6193G>C (p.Gly2065Arg)

SNV
Germline

Chr2:237361138

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10604911

rs_397515332

2 SubmittersRCV000329760 RCV000653528

NM_004369.4(COL6A3):c.7749G>A (p.Thr2583=)

SNV
Germline

Chr2:237342081

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187715

rs_758582935

3 SubmittersRCV000327744 RCV000556243

NM_001849.4(COL6A2):c.2882C>T (p.Ala961Val)

SNV
Germline

Chr21:46132374

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10073076

rs_138674440

4 SubmittersRCV000371289 RCV001086987 RCV004543053

NM_001849.4(COL6A2):c.2661G>A (p.Glu887=)

SNV
Germline

Chr21:46132153

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Myosclerosis
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072969

rs_148249892

3 SubmittersRCV000266261 RCV000358384 RCV000373659 RCV001086941

NM_004369.4(COL6A3):c.8376C>T (p.Asp2792=)

SNV
Germline

Chr2:237340540

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187567

rs_772967228

3 SubmittersRCV000317467 RCV003517169

NM_001848.3(COL6A1):c.717+4A>G

SNV
Germline

Chr21:45987076

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10069654

rs_762867111

6 SubmittersRCV000653543 RCV000725541

NM_001848.3(COL6A1):c.1096G>A (p.Ala366Thr)

SNV
Germline

Chr21:45991018

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070079

rs_183994910

4 SubmittersRCV000287896 RCV001140826 RCV002518949

NM_001848.3(COL6A1):c.1957-4A>G

SNV
Germline

Chr21:46001957

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070698

rs_184484842

2 SubmittersRCV000401866 RCV001086720

NM_004369.4(COL6A3):c.5822C>T (p.Ser1941Leu)

SNV
Germline

Chr2:237365714

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188574

rs_778288464

2 SubmittersRCV000400649 RCV002521927

NM_004369.4(COL6A3):c.6312C>T (p.Gly2104=)

SNV
Germline

Chr2:237359248

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188338

rs_377074792

3 SubmittersRCV000314936 RCV001346967

NM_001848.3(COL6A1):c.2873C>A (p.Ala958Asp)

SNV
Germline

Chr21:46003799

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071056

rs_763228065

5 SubmittersRCV000378705 RCV000816415

NM_001848.3(COL6A1):c.1814-8C>T

SNV
Germline

Chr21:46000751

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070600

rs_777017599

2 SubmittersRCV000325281 RCV001471056

NM_001849.4(COL6A2):c.981C>T (p.Asn327=)

SNV
Germline

Chr21:46116796

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071599

rs_768836349

3 SubmittersRCV000351072 RCV001086943

NM_004369.4(COL6A3):c.1022G>A (p.Arg341His)

SNV
Germline

Chr2:237387872

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189721

rs_140510298

5 SubmittersRCV000313136 RCV001139348 RCV001859611

NM_004369.4(COL6A3):c.3499A>T (p.Ile1167Phe)

SNV
Germline

Chr2:237374592

Conflicting classifications of pathogenicity

Condition: not provided
Dystonia 27
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10604971

rs_886042996

4 SubmittersRCV000367831 RCV000765644 RCV002518954

NM_004369.4(COL6A3):c.8270G>C (p.Arg2757Thr)

SNV
Germline

Chr2:237340646

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2187585

rs_746608405

5 SubmittersRCV000401683 RCV001138189 RCV001360027 RCV003372676

NM_004369.4(COL6A3):c.3228C>G (p.Thr1076=)

SNV
Germline

Chr2:237374863

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10604972

rs_886042997

2 SubmittersRCV000314116 RCV002519163

NM_001849.4(COL6A2):c.2556C>T (p.Ala852=)

SNV
Germline

Chr21:46132048

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072924

rs_148404291

2 SubmittersRCV000265780 RCV002059165

NM_001849.4(COL6A2):c.*5G>A

SNV
Germline

Chr21:46132557

Conflicting classifications of pathogenicity

Myosclerosis
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10073165

rs_377195134

4 SubmittersRCV000261412 RCV000318994 RCV000326800 RCV001007855

NM_001849.4(COL6A2):c.729C>T (p.Tyr243=)

SNV
Germline

Chr21:46112818

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071420

rs_200824569

2 SubmittersRCV000336271 RCV002519166

NM_004369.4(COL6A3):c.776C>T (p.Ala259Val)

SNV
Germline

Chr2:237388118

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189778

rs_149924028

6 SubmittersRCV000300486 RCV000311736 RCV000725577 RCV000820873

NM_004369.4(COL6A3):c.8243C>T (p.Pro2748Leu)

SNV
Germline

Chr2:237340673

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187592

rs_115595706

4 SubmittersRCV000267267 RCV000287956 RCV000701627

NM_004369.4(COL6A3):c.1350G>A (p.Val450=)

SNV
Germline

Chr2:237381462

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10604986

rs_886043010

3 SubmittersRCV000345310 RCV003631106

NM_001848.3(COL6A1):c.667G>A (p.Asp223Asn)

SNV
Germline

Chr21:45987022

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
not specified

Criteria Provided
Conflicting Classifications

CA10069647

rs_199842980

5 SubmittersRCV000725579 RCV001240408 RCV001192867

NM_001848.3(COL6A1):c.2765A>G (p.Tyr922Cys)

SNV
Germline

Chr21:46003691

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10604987

rs_886043011

3 SubmittersRCV000378077 RCV002518957

NM_001848.3(COL6A1):c.311C>T (p.Thr104Met)

SNV
Germline

Chr21:45984352

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069523

rs_781396484

4 SubmittersRCV000336707 RCV002518958

NM_001848.3(COL6A1):c.1708G>A (p.Ala570Thr)

SNV
Germline

Chr21:45999186

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070494

rs_144358858

5 SubmittersRCV000308502 RCV001086048

NM_001849.4(COL6A2):c.2904C>T (p.Asn968=)

SNV
Germline

Chr21:46132396

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10073086

rs_143569686

2 SubmittersRCV000333624 RCV001395296

NM_004369.4(COL6A3):c.5680C>T (p.Pro1894Ser)

SNV
Germline

Chr2:237365856

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188606

rs_112540218

3 SubmittersRCV000406654 RCV000701359

NM_001849.4(COL6A2):c.2907G>A (p.Val969=)

SNV
Germline

Chr21:46132399

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10073088

rs_138004735

2 SubmittersRCV000370084 RCV001506229

NM_004369.4(COL6A3):c.774C>T (p.Phe258=)

SNV
Germline

Chr2:237388120

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189779

rs_766589204

2 SubmittersRCV000342629 RCV001450620

NM_004369.4(COL6A3):c.9005A>G (p.Glu3002Gly)

SNV
Germline

Chr2:237334850

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187384

rs_747642083

2 SubmittersRCV000276298 RCV002521932

NM_001849.4(COL6A2):c.791G>A (p.Arg264His)

SNV
Germline

Chr21:46114063

Conflicting classifications of pathogenicity

Myosclerosis
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071456

rs_148029276

9 SubmittersRCV000286457 RCV000339179 RCV000513122 RCV000551936

NM_004369.4(COL6A3):c.5634C>T (p.Ser1878=)

SNV
Germline

Chr2:237365902

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188622

rs_770825082

2 SubmittersRCV000305350 RCV001436303

NM_001849.4(COL6A2):c.1129C>T (p.Arg377Cys)

SNV
Germline

Chr21:46118626

Conflicting classifications of pathogenicity

not specified
Bethlem myopathy 1A
Condition: not provided
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10071715

rs_144801620

5 SubmittersRCV000314635 RCV000653674 RCV002274976 RCV004543063

NM_001848.3(COL6A1):c.2856C>T (p.Pro952=)

SNV
Germline

Chr21:46003782

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA10071052

rs_140427635

4 SubmittersRCV000725617 RCV001078523 RCV001142992

NM_001849.4(COL6A2):c.955-10C>T

SNV
Germline

Chr21:46116760

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071592

rs_751105293

2 SubmittersRCV000323801 RCV002059171

NM_004369.4(COL6A3):c.7849G>A (p.Asp2617Asn)

SNV
Germline

Chr2:237341067

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2187679

rs_138285547

6 SubmittersRCV000333005 RCV001087869 RCV001141186 RCV004547695

NM_004369.4(COL6A3):c.6768C>T (p.Ala2256=)

SNV
Germline

Chr2:237351178

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188089

rs_550085228

2 SubmittersRCV000389885 RCV001485775

NM_004369.4(COL6A3):c.2232G>A (p.Pro744=)

SNV
Germline

Chr2:237378901

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189448

rs_368826874

2 SubmittersRCV000327187 RCV002521934

NM_004369.4(COL6A3):c.3507C>T (p.Asn1169=)

SNV
Germline

Chr2:237374584

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA2189153

rs_138426138

5 SubmittersRCV000286606 RCV000725632 RCV001454599 RCV001143452

NM_001849.4(COL6A2):c.188C>T (p.Thr63Met)

SNV
Germline

Chr21:46112051

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071227

rs_201094892

5 SubmittersRCV000337273 RCV001223613

NM_001848.3(COL6A1):c.2800G>A (p.Ala934Thr)

SNV
Germline

Chr21:46003726

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10071037

rs_147716407

4 SubmittersRCV000325487 RCV001212841 RCV003165743

NM_004369.4(COL6A3):c.9494-10C>T

SNV
Germline

Chr2:237324824

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2187242

rs_184617787

6 SubmittersRCV000340262 RCV000725664 RCV001081267 RCV004547698

NM_001849.4(COL6A2):c.2751G>A (p.Val917=)

SNV
Germline

Chr21:46132243

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10073006

rs_111341650

2 SubmittersRCV000282777 RCV001859619

NM_001848.3(COL6A1):c.2553C>T (p.Phe851=)

SNV
Germline

Chr21:46003479

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070955

rs_370632963

2 SubmittersRCV000367642 RCV001088630

NM_004369.4(COL6A3):c.3205G>A (p.Val1069Met)

SNV
Germline

Chr2:237374886

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189216

rs_115297652

5 SubmittersRCV000259898 RCV000274489 RCV000653619 RCV003165744

NM_001849.4(COL6A2):c.2998A>G (p.Lys1000Glu)

SNV
Germline

Chr21:46132490

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10073133

rs_151244310

6 SubmittersRCV000725669 RCV001055469 RCV002518968

NM_004369.4(COL6A3):c.7174G>A (p.Gly2392Arg)

SNV
Germline

Chr2:237344941

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187878

rs_773673162

4 SubmittersRCV000329071 RCV001054907

NM_004369.4(COL6A3):c.5118C>T (p.Ile1706=)

SNV
Germline

Chr2:237367069

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188742

rs_766291321

2 SubmittersRCV000290715 RCV002521938

NM_004369.4(COL6A3):c.5394C>T (p.Arg1798=)

SNV
Germline

Chr2:237366793

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188677

rs_202086524

3 SubmittersRCV000362415 RCV001087097

NM_004369.4(COL6A3):c.4047C>T (p.Asp1349=)

SNV
Germline

Chr2:237371970

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189008

rs_115893145

5 SubmittersRCV000260455 RCV000273883 RCV000725694 RCV001085152

NM_001849.4(COL6A2):c.2922G>A (p.Leu974=)

SNV
Germline

Chr21:46132414

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10073096

rs_556385546

3 SubmittersRCV000316296 RCV000821145 RCV004535353

NM_004369.4(COL6A3):c.107C>T (p.Ala36Val)

SNV
Germline

Chr2:237395189

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189934

rs_572020866

3 SubmittersRCV000401106 RCV000653565

NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile)

SNV
Germline

Chr2:237374973

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Dystonia 27
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA2189239

rs_78427077

6 SubmittersRCV000324975 RCV000697460 RCV000725699 RCV001535515

NM_004369.4(COL6A3):c.1394G>A (p.Arg465Gln)

SNV
Germline

Chr2:237381418

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189629

rs_781231935

2 SubmittersRCV000298554 RCV001228546

NM_001848.3(COL6A1):c.424G>C (p.Val142Leu)

SNV
Germline

Chr21:45984465

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069562

rs_144282452

2 SubmittersRCV000314929 RCV001088542

NM_001848.3(COL6A1):c.409C>G (p.Leu137Val)

SNV
Germline

Chr21:45984450

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069556

rs_139648899

2 SubmittersRCV000274990 RCV001088541

NM_004369.4(COL6A3):c.3754C>T (p.Arg1252Cys)

SNV
Germline

Chr2:237372263

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189082

rs_563530370

4 SubmittersRCV000365975 RCV001064513

NM_001849.4(COL6A2):c.1359C>T (p.Arg453=)

SNV
Germline

Chr21:46120541

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071843

rs_750842859

4 SubmittersRCV000378532 RCV001136744 RCV001409461

NM_004369.4(COL6A3):c.6798C>T (p.Thr2266=)

SNV
Germline

Chr2:237351148

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA2188082

rs_116541926

5 SubmittersRCV000320475 RCV000725709 RCV001088225 RCV001143143

NM_001848.3(COL6A1):c.348C>T (p.Ser116=)

SNV
Germline

Chr21:45984389

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069541

rs_189444981

4 SubmittersRCV000404119 RCV000725717 RCV001410333

NM_004369.4(COL6A3):c.3008G>A (p.Gly1003Glu)

SNV
Germline

Chr2:237376834

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189272

rs_775536678

3 SubmittersRCV000329391 RCV001048907

NM_004369.4(COL6A3):c.5575G>A (p.Glu1859Lys)

SNV
Germline

Chr2:237365961

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10605207

rs_886043180

3 SubmittersRCV000360053 RCV001855157 RCV003278739

NM_004369.4(COL6A3):c.5968C>T (p.Arg1990Trp)

SNV
Germline

Chr2:237363348

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
not specified
Congenital contracture
Bethlem myopathy 1A
Condition: not provided
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2188511

rs_146546544

7 SubmittersRCV000291553 RCV000301747 RCV000449495 RCV000538324 RCV003430820 RCV004547703

NM_001849.4(COL6A2):c.1012C>T (p.Arg338Cys)

SNV
Germline

Chr21:46117412

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10071631

rs_775751831

5 SubmittersRCV000370445 RCV000812303 RCV002519190

NM_001849.4(COL6A2):c.1053+1G>A

SNV
Germline

Chr21:46117454

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10605216

rs_886043187

2 SubmittersRCV000270748 RCV001855158

NM_001849.4(COL6A2):c.2785G>A (p.Val929Met)

SNV
Germline

Chr21:46132277

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Conflicting Classifications

CA10073022

rs_145527336

6 SubmittersRCV000286874 RCV000653507 RCV001139297 RCV001330654

NM_001849.4(COL6A2):c.332C>T (p.Pro111Leu)

SNV
Germline

Chr21:46112195

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Myosclerosis
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071263

rs_747184649

5 SubmittersRCV000305547 RCV000338896 RCV000406254 RCV001347096

NM_001849.4(COL6A2):c.2083G>A (p.Glu695Lys)

SNV
Germline

Chr21:46125898

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA10072438

rs_377376395

4 SubmittersRCV000363352 RCV000653539 RCV001141703

NM_001849.4(COL6A2):c.2656G>A (p.Gly886Ser)

SNV
Germline

Chr21:46132148

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072967

rs_571488000

3 SubmittersRCV000265343 RCV000702321

NM_001848.3(COL6A1):c.2148G>A (p.Pro716=)

SNV
Germline

Chr21:46002299

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070781

rs_780032842

3 SubmittersRCV000725727 RCV001452039

NM_004369.4(COL6A3):c.6354+1G>A

SNV
Germline

Chr2:237359205

Pathogenic/Likely pathogenic

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10605229

rs_886042883

6 SubmittersRCV000319175 RCV000578834 RCV000622451 RCV001249572

NM_004369.4(COL6A3):c.1385A>G (p.Asn462Ser)

SNV
Germline

Chr2:237381427

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189630

rs_200250810

3 SubmittersRCV000337261 RCV000544280

NM_001848.3(COL6A1):c.1092C>T (p.Pro364=)

SNV
Germline

Chr21:45991014

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070077

rs_368088970

2 SubmittersRCV000350384 RCV002059186

NM_001848.3(COL6A1):c.2165G>A (p.Arg722His)

SNV
Germline

Chr21:46002316

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070785

rs_758242849

4 SubmittersRCV000318484 RCV001368237

NM_004369.4(COL6A3):c.6342G>A (p.Leu2114=)

SNV
Germline

Chr2:237359218

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10605314

rs_886043269

2 SubmittersRCV000317135 RCV001216269

NM_001849.4(COL6A2):c.736-7G>A

SNV
Germline

Chr21:46114001

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071446

rs_375288629

2 SubmittersRCV000407705 RCV001089285

NM_004369.4(COL6A3):c.3331G>A (p.Ala1111Thr)

SNV
Germline

Chr2:237374760

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189184

rs_151021451

5 SubmittersRCV000725760 RCV000801843 RCV002519202

NM_004369.4(COL6A3):c.4900+9C>T

SNV
Germline

Chr2:237368554

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A
COL6A3-related disorder
Dystonia 27

Criteria Provided
Conflicting Classifications

CA2188785

rs_117345850

7 SubmittersRCV000306414 RCV000389136 RCV000725761 RCV001084936 RCV004547705 RCV002298564

NM_004369.4(COL6A3):c.2497+9C>T

SNV
Germline

Chr2:237378627

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10605324

rs_774198344

2 SubmittersRCV000271100 RCV003517171

NM_001848.3(COL6A1):c.1539C>T (p.Pro513=)

SNV
Germline

Chr21:45998135

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070393

rs_150834054

2 SubmittersRCV000276960 RCV001458191

NM_001848.3(COL6A1):c.2147C>T (p.Pro716Leu)

SNV
Germline

Chr21:46002298

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Ullrich congenital muscular dystrophy 1A
Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070780

rs_755589190

6 SubmittersRCV000407281 RCV000660511 RCV001328889 RCV002519203 RCV002521945

NM_004369.4(COL6A3):c.8632A>G (p.Thr2878Ala)

SNV
Germline

Chr2:237336468

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187486

rs_761653490

4 SubmittersRCV000289268 RCV000350575 RCV000687574

NM_001848.3(COL6A1):c.261C>T (p.Asn87=)

SNV
Germline

Chr21:45984302

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069510

rs_770671793

3 SubmittersRCV000309226 RCV000368701 RCV001426013

NM_001849.4(COL6A2):c.1522-9C>T

SNV
Germline

Chr21:46122099

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071961

rs_371576207

3 SubmittersRCV000382914 RCV001423764

NM_004369.4(COL6A3):c.4510C>A (p.Arg1504=)

SNV
Germline

Chr2:237368953

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2188877

rs_144223596

3 SubmittersRCV000548245 RCV000407676 RCV004547706

NM_004369.4(COL6A3):c.9394C>T (p.Pro3132Ser)

SNV
Germline

Chr2:237325659

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2187278

rs_147533489

5 SubmittersRCV000361739 RCV001228671 RCV001142818 RCV004021189

NM_001848.3(COL6A1):c.2733C>T (p.Asn911=)

SNV
Germline

Chr21:46003659

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071016

rs_144585693

2 SubmittersRCV000325176 RCV001466641

NM_001849.4(COL6A2):c.2659G>A (p.Glu887Lys)

SNV
Germline

Chr21:46132151

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10605333

rs_886043283

3 SubmittersRCV000330968 RCV000800722

NM_004369.4(COL6A3):c.6132G>T (p.Gly2044=)

SNV
Germline

Chr2:237361763

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2188456

rs_762950440

4 SubmittersRCV000295669 RCV000725768 RCV001080018 RCV004547707

NM_001848.3(COL6A1):c.2464+9C>T

SNV
Germline

Chr21:46003158

Conflicting classifications of pathogenicity

not specified
Bethlem myopathy 1A
Condition: not provided
COL6A1-related disorder

Criteria Provided
Conflicting Classifications

CA10070905

rs_368651226

4 SubmittersRCV000278479 RCV000528678 RCV000725770 RCV004543073

NM_004369.4(COL6A3):c.5652C>T (p.Thr1884=)

SNV
Germline

Chr2:237365884

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188615

rs_200285455

4 SubmittersRCV000298917 RCV000365087 RCV001085464

NM_001849.4(COL6A2):c.492C>T (p.His164=)

SNV
Germline

Chr21:46112355

Conflicting classifications of pathogenicity

Myosclerosis
Collagen 6-related myopathy
not specified
Bethlem myopathy 1A
Condition: not provided
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10071311

rs_140929054

6 SubmittersRCV000327665 RCV000365882 RCV000372828 RCV001082800 RCV000725775 RCV004535358

NM_001848.3(COL6A1):c.726C>T (p.Asn242=)

SNV
Germline

Chr21:45987163

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A1-related disorder

Criteria Provided
Conflicting Classifications

CA10069674

rs_142102852

4 SubmittersRCV000352696 RCV001087836 RCV004543075

NM_004369.4(COL6A3):c.3501C>T (p.Ile1167=)

SNV
Germline

Chr2:237374590

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189155

rs_199998363

2 SubmittersRCV000324842 RCV002059193

NM_001848.3(COL6A1):c.1021G>T (p.Gly341Cys)

SNV
Germline

Chr21:45990791

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10605376

rs_886043321

3 SubmittersRCV000379396 RCV000801381

NM_001849.4(COL6A2):c.838G>C (p.Gly280Arg)

SNV
Germline

Chr21:46115908

Pathogenic/Likely pathogenic

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10605378

rs_886043323

2 SubmittersRCV000389013 RCV000725795

NM_004369.4(COL6A3):c.6519C>T (p.Thr2173=)

SNV
Germline

Chr2:237357835

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188246

rs_776493521

2 SubmittersRCV000262259 RCV001467177

NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val)

SNV
Germline

Chr2:237371896

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Conflicting Classifications

CA2188989

rs_766488017

6 SubmittersRCV000353475 RCV000625838 RCV003338503

NM_004369.4(COL6A3):c.4726C>T (p.Arg1576Trp)

SNV
Germline

Chr2:237368737

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188823

rs_773979979

3 SubmittersRCV000285182 RCV001855167

NM_004369.4(COL6A3):c.8805G>A (p.Ala2935=)

SNV
Germline

Chr2:237336295

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187440

rs_200111289

3 SubmittersRCV000302928 RCV002059194

NM_001848.3(COL6A1):c.1003-1G>A

SNV
Germline

Chr21:45990772

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10605388

rs_886043330

4 SubmittersRCV000289219 RCV001047073

NM_001848.3(COL6A1):c.1656C>T (p.Ala552=)

SNV
Germline

Chr21:45998941

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070462

rs_377213930

3 SubmittersRCV000361053 RCV001088639

NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln)

SNV
Germline

Chr21:46132077

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA10072937

rs_367658663

5 SubmittersRCV000264062 RCV001257058 RCV002227118

NM_001849.4(COL6A2):c.801+1G>T

SNV
Germline

Chr21:46114074

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10605400

rs_794727715

2 SubmittersRCV000288156 RCV001855169

NM_001849.4(COL6A2):c.219C>T (p.Phe73=)

SNV
Germline

Chr21:46112082

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10071235

rs_374336669

5 SubmittersRCV000725813 RCV001081483 RCV001141355 RCV004543076

NM_004369.4(COL6A3):c.7551C>T (p.Asn2517=)

SNV
Germline

Chr2:237344467

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187779

rs_570963533

3 SubmittersRCV000336229 RCV001423324

NM_001848.3(COL6A1):c.788G>A (p.Gly263Asp)

SNV
Germline

Chr21:45987638

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10605416

rs_886043351

3 SubmittersRCV000302236 RCV001859644

NM_001849.4(COL6A2):c.1095G>A (p.Glu365=)

SNV
Germline

Chr21:46117915

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071685

rs_374673302

2 SubmittersRCV000362593 RCV002519219

NM_001849.4(COL6A2):c.189G>A (p.Thr63=)

SNV
Germline

Chr21:46112052

Conflicting classifications of pathogenicity

Myosclerosis
Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071228

rs_143583433

5 SubmittersRCV000300938 RCV000379038 RCV000390977 RCV001085020

NM_004369.4(COL6A3):c.575C>T (p.Pro192Leu)

SNV
Germline

Chr2:237394721

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189836

rs_563800854

3 SubmittersRCV000380544 RCV001220718

NM_004369.4(COL6A3):c.5635G>A (p.Gly1879Ser)

SNV
Germline

Chr2:237365901

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188621

rs_760603443

6 SubmittersRCV000263794 RCV000416242 RCV000542511

NM_004369.4(COL6A3):c.3198C>T (p.Arg1066=)

SNV
Germline

Chr2:237374893

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2189219

rs_200621867

3 SubmittersRCV000271214 RCV001087193 RCV004547709

NM_004369.4(COL6A3):c.8891C>T (p.Ala2964Val)

SNV
Germline

Chr2:237336209

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187420

rs_563813743

4 SubmittersRCV000328502 RCV001088627

NM_001849.4(COL6A2):c.1962C>T (p.Ser654=)

SNV
Germline

Chr21:46125610

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA10072347

rs_150253422

4 SubmittersRCV000332019 RCV001087813 RCV001139091

NM_001849.4(COL6A2):c.2326G>A (p.Ala776Thr)

SNV
Germline

Chr21:46126141

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072520

rs_759293889

3 SubmittersRCV000367936 RCV000557776

NM_001848.3(COL6A1):c.3056A>G (p.Gln1019Arg)

SNV
Germline

Chr21:46003982

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10071120

rs_751518356

4 SubmittersRCV000371573 RCV000792846 RCV002519239

NM_001848.3(COL6A1):c.1226C>A (p.Ala409Glu)

SNV
Germline

Chr21:45992207

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070161

rs_765826390

3 SubmittersRCV000318344 RCV001328886

NM_004369.4(COL6A3):c.2145G>A (p.Ser715=)

SNV
Germline

Chr2:237378988

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189472

rs_375924639

2 SubmittersRCV000340558 RCV001089158

NM_001848.3(COL6A1):c.1056+4A>G

SNV
Germline

Chr21:45990830

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10605517

rs_886043433

3 SubmittersRCV000377484 RCV003517173

NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys)

SNV
Germline

Chr21:46125985

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Myosclerosis
Condition: not provided
Bethlem myopathy 1A
Bethlem myopathy
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10072456

rs_150098077

8 SubmittersRCV000335376 RCV000391271 RCV000725902 RCV001082860 RCV001261892 RCV004535372

NM_001848.3(COL6A1):c.3029A>G (p.Gln1010Arg)

SNV
Germline

Chr21:46003955

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10071111

rs_141605607

5 SubmittersRCV000335163 RCV000365797 RCV000546868 RCV001705426

NM_001848.3(COL6A1):c.2595G>C (p.Thr865=)

SNV
Germline

Chr21:46003521

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070971

rs_367832752

2 SubmittersRCV000300268 RCV001500515

NM_004369.4(COL6A3):c.4678G>A (p.Ala1560Thr)

SNV
Germline

Chr2:237368785

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2188838

rs_371631320

4 SubmittersRCV000389638 RCV000542185 RCV002519269

NM_001848.3(COL6A1):c.1666G>A (p.Gly556Arg)

SNV
Germline

Chr21:45998951

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10605615

rs_886043521

2 SubmittersRCV000260990 RCV000316226

NM_004369.4(COL6A3):c.4227G>A (p.Thr1409=)

SNV
Germline

Chr2:237371790

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188971

rs_142938239

2 SubmittersRCV000299699 RCV002521962

NM_004369.4(COL6A3):c.9494-5C>T

SNV
Germline

Chr2:237324819

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10605654

rs_886043555

2 SubmittersRCV000320923 RCV003631110

NM_004369.4(COL6A3):c.6890G>C (p.Gly2297Ala)

SNV
Germline

Chr2:237348653

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA10605679

rs_886043576

5 SubmittersRCV000710911 RCV001207298 RCV004549593

NM_004369.4(COL6A3):c.1088G>A (p.Arg363His)

SNV
Germline

Chr2:237387806

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189710

rs_776329513

2 SubmittersRCV000387918 RCV001320693

NM_004369.4(COL6A3):c.9498C>T (p.Leu3166=)

SNV
Germline

Chr2:237324810

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2187236

rs_150376179

3 SubmittersRCV000357287 RCV000559385 RCV004549594

NM_004369.4(COL6A3):c.1939T>A (p.Ser647Thr)

SNV
Germline

Chr2:237379194

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189510

rs_777409908

3 SubmittersRCV000284694 RCV002521973

NM_001849.4(COL6A2):c.288C>T (p.Tyr96=)

SNV
Germline

Chr21:46112151

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071254

rs_61735833

3 SubmittersRCV000726012 RCV001079446

NM_001848.3(COL6A1):c.1273-4T>C

SNV
Germline

Chr21:45992744

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070222

rs_373909354

2 SubmittersRCV000380337 RCV001455948

NM_001849.4(COL6A2):c.345G>A (p.Arg115=)

SNV
Germline

Chr21:46112208

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10605845

rs_138007666

2 SubmittersRCV000295337 RCV002059226

NM_001849.4(COL6A2):c.942C>T (p.Ala314=)

SNV
Germline

Chr21:46116665

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071559

rs_531713008

2 SubmittersRCV000291764 RCV001079071

NM_001849.4(COL6A2):c.3025G>A (p.Gly1009Ser)

SNV
Germline

Chr21:46132517

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10073143

rs_35887009

4 SubmittersRCV000382527 RCV001081285 RCV002521980

NM_001848.3(COL6A1):c.1911C>T (p.Phe637=)

SNV
Germline

Chr21:46001341

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070651

rs_552239546

2 SubmittersRCV000396889 RCV001500612

NM_001849.4(COL6A2):c.1071G>A (p.Pro357=)

SNV
Germline

Chr21:46117891

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA10071681

rs_746727003

3 SubmittersRCV000324379 RCV000794080 RCV001141474

NM_001848.3(COL6A1):c.2611G>A (p.Val871Met)

SNV
Germline

Chr21:46003537

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10070980

rs_374685631

5 SubmittersRCV000278318 RCV000542618 RCV003258730

NM_004369.4(COL6A3):c.9444C>T (p.Asn3148=)

SNV
Germline

Chr2:237325609

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187272

rs_144291325

4 SubmittersRCV000726066 RCV001089111

NM_004369.4(COL6A3):c.6212G>A (p.Gly2071Asp)

SNV
Germline

Chr2:237360158

Pathogenic/Likely pathogenic

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10605883

rs_886043737

4 SubmittersRCV000396169 RCV000485229

NM_001849.4(COL6A2):c.1562G>A (p.Arg521Gln)

SNV
Germline

Chr21:46122148

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
See cases
Ullrich congenital muscular dystrophy 1B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10071977

rs_367693258

7 SubmittersRCV000394463 RCV001248350 RCV002252084 RCV003992262 RCV003352822

NM_004369.4(COL6A3):c.9508G>A (p.Gly3170Arg)

SNV
Germline

Chr2:237324800

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10605907

rs_568632361

3 SubmittersRCV000382244 RCV001510350

NM_004369.4(COL6A3):c.2754C>T (p.Tyr918=)

SNV
Germline

Chr2:237377088

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2189330

rs_114492689

5 SubmittersRCV000304441 RCV000726087 RCV001141742 RCV001406880 RCV004549600

NM_001849.4(COL6A2):c.2488C>T (p.Arg830Trp)

SNV
Germline

Chr21:46131980

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Conflicting Classifications

CA10072904

rs_373072443

5 SubmittersRCV000357521 RCV000778643 RCV001059137 RCV003338507

NM_001849.4(COL6A2):c.2809C>T (p.Arg937Trp)

SNV
Germline

Chr21:46132301

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10073031

rs_755352246

2 SubmittersRCV000390666 RCV000690514

NM_001849.4(COL6A2):c.1945G>A (p.Ala649Thr)

SNV
Germline

Chr21:46125593

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Myosclerosis
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10072340

rs_142002945

5 SubmittersRCV000259742 RCV000348651 RCV000393023 RCV000873283 RCV001718584

NM_001849.4(COL6A2):c.735+7G>A

SNV
Germline

Chr21:46112831

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10071423

rs_575365107

3 SubmittersRCV000403400 RCV000555408 RCV004535404

NM_001848.3(COL6A1):c.2899A>G (p.Ile967Val)

SNV
Germline

Chr21:46003825

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071066

rs_777671647

4 SubmittersRCV000372586 RCV000691631

NM_001848.3(COL6A1):c.2610C>T (p.Asp870=)

SNV
Germline

Chr21:46003536

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070979

rs_759989949

2 SubmittersRCV000313061 RCV001445706

NM_001849.4(COL6A2):c.2634G>A (p.Ala878=)

SNV
Germline

Chr21:46132126

Conflicting classifications of pathogenicity

Myosclerosis
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072959

rs_143749884

4 SubmittersRCV000262696 RCV000301508 RCV000354320 RCV001081923

NM_004369.4(COL6A3):c.4431C>T (p.Val1477=)

SNV
Germline

Chr2:237369032

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188896

rs_151289203

2 SubmittersRCV000296132 RCV001087823

NM_001848.3(COL6A1):c.931-5C>T

SNV
Germline

Chr21:45990253

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069909

rs_371841573

4 SubmittersRCV000301433 RCV000370175 RCV001087867

NM_004369.4(COL6A3):c.4524C>G (p.Leu1508=)

SNV
Germline

Chr2:237368939

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188870

rs_755902927

2 SubmittersRCV000388036 RCV002518015

NM_001848.3(COL6A1):c.2109G>A (p.Thr703=)

SNV
Germline

Chr21:46002260

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070772

rs_760649238

3 SubmittersRCV000334871 RCV000726120 RCV001346826

NM_004369.4(COL6A3):c.7777A>T (p.Ile2593Phe)

SNV
Germline

Chr2:237341139

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187694

rs_755107410

2 SubmittersRCV000264469 RCV001317420

NM_001849.4(COL6A2):c.628G>A (p.Glu210Lys)

SNV
Germline

Chr21:46112491

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA10071356

rs_113017484

6 SubmittersRCV000394295 RCV000537791 RCV001136630

NM_001849.4(COL6A2):c.2707G>A (p.Glu903Lys)

SNV
Germline

Chr21:46132199

Conflicting classifications of pathogenicity

Myosclerosis
Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072983

rs_373611722

5 SubmittersRCV000268727 RCV000327831 RCV000326181 RCV000822191

NM_004369.4(COL6A3):c.8359G>A (p.Ala2787Thr)

SNV
Germline

Chr2:237340557

Conflicting classifications of pathogenicity

Condition: not provided
7 conditions
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187571

rs_763395740

3 SubmittersRCV000330793 RCV000735335 RCV000820442

NM_004369.4(COL6A3):c.7114G>A (p.Asp2372Asn)

SNV
Germline

Chr2:237345192

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187923

rs_142002241

3 SubmittersRCV000291486 RCV000653586

NM_004369.4(COL6A3):c.5019C>T (p.Gly1673=)

SNV
Germline

Chr2:237367168

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2188756

rs_140516220

3 SubmittersRCV000689002 RCV000726156

NM_001849.4(COL6A2):c.2875G>C (p.Glu959Gln)

SNV
Germline

Chr21:46132367

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10073071

rs_150168522

3 SubmittersRCV000284297 RCV000824045

NM_004369.4(COL6A3):c.3901C>T (p.Arg1301Trp)

SNV
Germline

Chr2:237372116

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA501184

rs_150430813

6 SubmittersRCV000367618 RCV000388800 RCV000815769

NM_004369.4(COL6A3):c.1208C>T (p.Pro403Leu)

SNV
Germline

Chr2:237387686

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189684

rs_547651808

4 SubmittersRCV000327015 RCV000349130 RCV003517176

NM_004369.4(COL6A3):c.5607C>T (p.Ile1869=)

SNV
Germline

Chr2:237365929

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188627

rs_751159969

2 SubmittersRCV000395734 RCV001470091

NM_004369.4(COL6A3):c.3841A>G (p.Lys1281Glu)

SNV
Germline

Chr2:237372176

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10606077

rs_886043888

2 SubmittersRCV000364187 RCV001855209

NM_001849.4(COL6A2):c.115+10G>T

SNV
Germline

Chr21:46111601

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10071183

rs_200797233

3 SubmittersRCV000365068 RCV001087186 RCV004535412

NM_001849.4(COL6A2):c.2749G>A (p.Val917Met)

SNV
Germline

Chr21:46132241

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10073004

rs_145381639

2 SubmittersRCV000265744 RCV000705599

NM_004369.4(COL6A3):c.3055G>A (p.Gly1019Arg)

SNV
Germline

Chr2:237376787

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Dystonia 27
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2189266

rs_370664069

5 SubmittersRCV000372216 RCV000527253 RCV000765646 RCV004549607

NM_001849.4(COL6A2):c.643G>A (p.Asp215Asn)

SNV
Germline

Chr21:46112506

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071361

rs_563449281

3 SubmittersRCV000386796 RCV000526278

NM_004369.4(COL6A3):c.2147G>A (p.Gly716Asp)

SNV
Germline

Chr2:237378986

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Bethlem myopathy 1A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2189470

rs_144514259

5 SubmittersRCV000291815 RCV000363927 RCV000653538 RCV003165760 RCV003488503

NM_001849.4(COL6A2):c.2171G>T (p.Arg724Leu)

SNV
Germline

Chr21:46125986

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072458

rs_145450812

4 SubmittersRCV000397775 RCV000685619

NM_004369.4(COL6A3):c.2196G>A (p.Thr732=)

SNV
Germline

Chr2:237378937

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189458

rs_768242367

3 SubmittersRCV000299325 RCV000726169 RCV001859678

NM_004369.4(COL6A3):c.1370G>T (p.Gly457Val)

SNV
Germline

Chr2:237381442

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189634

rs_377757978

3 SubmittersRCV000397876 RCV003765657

NM_004369.4(COL6A3):c.6309+1G>T

SNV
Germline

Chr2:237359361

Pathogenic/Likely pathogenic

Condition: not provided
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10606112

rs_886043919

3 SubmittersRCV000337392 RCV000760148 RCV002518040

NM_004369.4(COL6A3):c.8744C>T (p.Ala2915Val)

SNV
Germline

Chr2:237336356

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2187451

rs_751532649

4 SubmittersRCV000707162 RCV000726172

NM_004369.4(COL6A3):c.8193A>C (p.Pro2731=)

SNV
Germline

Chr2:237340723

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2187605

rs_140441798

6 SubmittersRCV000324786 RCV000726174 RCV001084586 RCV004549609

NM_001849.4(COL6A2):c.2623G>A (p.Ala875Thr)

SNV
Germline

Chr21:46132115

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Ullrich congenital muscular dystrophy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10072954

rs_199606147

8 SubmittersRCV000694478 RCV000726187 RCV001270045 RCV002519307

NM_001849.4(COL6A2):c.2251G>A (p.Asp751Asn)

SNV
Germline

Chr21:46126066

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Myosclerosis
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072486

rs_375884809

3 SubmittersRCV000362319 RCV000764267 RCV000809905

NM_004369.4(COL6A3):c.1065C>T (p.Ala355=)

SNV
Germline

Chr2:237387829

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy
Dystonia 27
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189717

rs_115155458

5 SubmittersRCV000356610 RCV001088083 RCV001139347 RCV002298566 RCV004021258

NM_001849.4(COL6A2):c.1348G>C (p.Glu450Gln)

SNV
Germline

Chr21:46120530

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071841

rs_757846451

3 SubmittersRCV000383351 RCV000537812

NM_004369.4(COL6A3):c.9116C>T (p.Thr3039Met)

SNV
Germline

Chr2:237334739

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA2187357

rs_116655315

5 SubmittersRCV000344053 RCV000653541 RCV001138501

NM_004369.4(COL6A3):c.438C>T (p.Ile146=)

SNV
Germline

Chr2:237394858

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189869

rs_781449958

3 SubmittersRCV000298319 RCV002059243

NM_004369.4(COL6A3):c.2756C>T (p.Ala919Val)

SNV
Germline

Chr2:237377086

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189328

rs_115327470

5 SubmittersRCV000332055 RCV000407262 RCV001209515 RCV002518047

NM_001849.4(COL6A2):c.2784C>T (p.Ile928=)

SNV
Germline

Chr21:46132276

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10073021

rs_199501232

3 SubmittersRCV000394638 RCV001088739

NM_001849.4(COL6A2):c.1860C>T (p.Ile620=)

SNV
Germline

Chr21:46125508

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072314

rs_367857478

2 SubmittersRCV000277859 RCV001475051

NM_004369.4(COL6A3):c.2231C>T (p.Pro744Leu)

SNV
Germline

Chr2:237378902

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided
Bethlem myopathy 1C

Criteria Provided
Conflicting Classifications

CA2189449

rs_199504304

6 SubmittersRCV000367426 RCV000542766 RCV000726195 RCV003992263

NM_004369.4(COL6A3):c.2497+9C>A

SNV
Germline

Chr2:237378627

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189400

rs_774198344

4 SubmittersRCV000261660 RCV000726196 RCV001401446

NM_001849.4(COL6A2):c.2968C>T (p.Leu990=)

SNV
Germline

Chr21:46132460

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10606175

rs_746012569

2 SubmittersRCV000343973 RCV001457744

NM_004369.4(COL6A3):c.8140G>T (p.Ala2714Ser)

SNV
Germline

Chr2:237340776

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187623

rs_748491825

3 SubmittersRCV000356934 RCV003517177

NM_001848.3(COL6A1):c.957+6C>T

SNV
Germline

Chr21:45990290

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069918

rs_374926748

3 SubmittersRCV000386239 RCV001140066 RCV001362778

NM_004369.4(COL6A3):c.709+8C>T

SNV
Germline

Chr2:237394579

Conflicting classifications of pathogenicity

Condition: not provided
Dystonia 27
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189811

rs_779535244

4 SubmittersRCV000726202 RCV000765647 RCV001319110

NM_004369.4(COL6A3):c.6180C>T (p.Tyr2060=)

SNV
Germline

Chr2:237361151

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188424

rs_115130936

2 SubmittersRCV000311033 RCV001483298

NM_001849.4(COL6A2):c.2745G>A (p.Ser915=)

SNV
Germline

Chr21:46132237

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10073002

rs_144516266

4 SubmittersRCV000371662 RCV000726212 RCV001455049 RCV004543118

NM_004369.4(COL6A3):c.1077T>C (p.Ser359=)

SNV
Germline

Chr2:237387817

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10606227

rs_886044010

2 SubmittersRCV000357041 RCV001502089

NM_001849.4(COL6A2):c.3046C>T (p.Arg1016Cys)

SNV
Germline

Chr21:46132538

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10073155

rs_373392391

4 SubmittersRCV000726224 RCV001326188

NM_004369.4(COL6A3):c.3462C>T (p.Val1154=)

SNV
Germline

Chr2:237374629

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189163

rs_762152367

2 SubmittersRCV000361328 RCV002518055

NM_001848.3(COL6A1):c.2034C>T (p.Ser678=)

SNV
Germline

Chr21:46002038

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070725

rs_750801808

2 SubmittersRCV000296642 RCV002059248

NM_001849.4(COL6A2):c.1970-10C>T

SNV
Germline

Chr21:46125775

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA10072394

rs_373369963

4 SubmittersRCV000382585 RCV001080623 RCV001141702

NM_004369.4(COL6A3):c.4697C>T (p.Ser1566Leu)

SNV
Germline

Chr2:237368766

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188830

rs_752785838

3 SubmittersRCV000342827 RCV001365801

NM_001849.4(COL6A2):c.1054-2A>G

SNV
Germline

Chr21:46117872

Pathogenic/Likely pathogenic

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10606246

rs_886044023

2 SubmittersRCV000393868 RCV000726229

NM_004369.4(COL6A3):c.7575G>A (p.Gln2525=)

SNV
Germline

Chr2:237344443

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187776

rs_752232293

2 SubmittersRCV000335987 RCV000653618

NM_004369.4(COL6A3):c.1432G>A (p.Gly478Arg)

SNV
Germline

Chr2:237381380

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189626

rs_777693832

3 SubmittersRCV000271427 RCV001301975

NM_004369.4(COL6A3):c.893C>T (p.Thr298Ile)

SNV
Germline

Chr2:237388001

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189757

rs_776043658

2 SubmittersRCV000282428 RCV001859687

NM_004369.4(COL6A3):c.252C>T (p.Asn84=)

SNV
Germline

Chr2:237395044

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189908

rs_765786832

2 SubmittersRCV000399566 RCV001438130

NM_001849.4(COL6A2):c.1346C>G (p.Pro449Arg)

SNV
Germline

Chr21:46120528

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10606252

rs_886044030

2 SubmittersRCV000349190 RCV000794402

NM_004369.4(COL6A3):c.6769G>A (p.Ala2257Thr)

SNV
Germline

Chr2:237351177

Conflicting classifications of pathogenicity

not specified
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2188088

rs_372154635

6 SubmittersRCV000357364 RCV000536787 RCV000726233

NM_001848.3(COL6A1):c.2953G>A (p.Val985Ile)

SNV
Germline

Chr21:46003879

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071086

rs_781394145

2 SubmittersRCV000296392 RCV001036519

NM_004369.4(COL6A3):c.1538G>A (p.Arg513Gln)

SNV
Germline

Chr2:237381274

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189602

rs_139498556

7 SubmittersRCV000361775 RCV000390040 RCV000550927

NM_004369.4(COL6A3):c.9459A>G (p.Gly3153=)

SNV
Germline

Chr2:237325594

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10606257

rs_886044034

2 SubmittersRCV000344356 RCV002059251

NM_004369.4(COL6A3):c.6289C>T (p.Arg2097Trp)

SNV
Germline

Chr2:237359382

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188357

rs_148252611

4 SubmittersRCV000290353 RCV000653544

NM_001849.4(COL6A2):c.1017C>T (p.Ile339=)

SNV
Germline

Chr21:46117417

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071634

rs_766157503

2 SubmittersRCV000391861 RCV001085504

NM_001848.3(COL6A1):c.74C>A (p.Thr25Asn)

SNV
Germline

Chr21:45981924

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069432

rs_767205402

3 SubmittersRCV000338991 RCV002518061

NM_004369.4(COL6A3):c.8236G>A (p.Glu2746Lys)

SNV
Germline

Chr2:237340680

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Dystonia 27
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Conflicting Classifications

CA2187593

rs_111395856

4 SubmittersRCV000726253 RCV001236572 RCV002487261

NM_001849.4(COL6A2):c.2937C>T (p.Asp979=)

SNV
Germline

Chr21:46132429

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10073106

rs_150716220

4 SubmittersRCV000726260 RCV001088483 RCV004543120

NM_004369.4(COL6A3):c.8406C>T (p.Thr2802=)

SNV
Germline

Chr2:237340510

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10606298

rs_572018781

2 SubmittersRCV000303909 RCV002059255

NM_004369.4(COL6A3):c.6640G>A (p.Gly2214Ser)

SNV
Germline

Chr2:237353391

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188147

rs_777454204

3 SubmittersRCV000328508 RCV000804148

NM_001849.4(COL6A2):c.954G>A (p.Lys318=)

SNV
Germline

Chr21:46116677

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA10606318

rs_878854362

3 SubmittersRCV000355001 RCV001248438 RCV001804998

NM_004369.4(COL6A3):c.5645C>T (p.Ser1882Leu)

SNV
Germline

Chr2:237365891

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2188617

rs_368943871

3 SubmittersRCV000284088 RCV001224918 RCV004021269

NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu)

SNV
Germline

Chr21:46115918

Pathogenic/Likely pathogenic

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10606332

rs_886044088

3 SubmittersRCV000591727 RCV000657920

NM_001848.3(COL6A1):c.2355C>A (p.Gly785=)

SNV
Germline

Chr21:46002631

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A
COL6A1-related disorder

Criteria Provided
Conflicting Classifications

CA10070849

rs_149910296

4 SubmittersRCV000295436 RCV000309967 RCV001087333 RCV004535423

NM_004369.4(COL6A3):c.861C>T (p.Ser287=)

SNV
Germline

Chr2:237388033

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189763

rs_756380512

2 SubmittersRCV000361347 RCV000531080

NM_004369.4(COL6A3):c.3419C>T (p.Thr1140Met)

SNV
Germline

Chr2:237374672

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189174

rs_201131900

4 SubmittersRCV000294987 RCV000658902 RCV001081807

NM_001848.3(COL6A1):c.357G>A (p.Ala119=)

SNV
Germline

Chr21:45984398

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069546

rs_747037863

3 SubmittersRCV000286179 RCV001085332

NM_004369.4(COL6A3):c.4603C>T (p.Arg1535Cys)

SNV
Germline

Chr2:237368860

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2188856

rs_752225290

3 SubmittersRCV000396913 RCV001368271 RCV004021271

NM_001849.4(COL6A2):c.2244C>T (p.Cys748=)

SNV
Germline

Chr21:46126059

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10072481

rs_201426778

3 SubmittersRCV000316159 RCV001084703 RCV004543124

NM_001849.4(COL6A2):c.1591G>A (p.Gly531Ser)

SNV
Germline

Chr21:46122514

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072012

rs_778364096

3 SubmittersRCV000347921 RCV002518080

NM_004369.4(COL6A3):c.2529C>T (p.Asp843=)

SNV
Germline

Chr2:237377313

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189374

rs_556079869

3 SubmittersRCV000281760 RCV000310702 RCV001423330

NM_001849.4(COL6A2):c.2233C>T (p.Arg745Trp)

SNV
Germline

Chr21:46126048

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072475

rs_140643748

2 SubmittersRCV000330502 RCV001850446

NM_004369.4(COL6A3):c.9147C>T (p.Leu3049=)

SNV
Germline

Chr2:237334708

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2187348

rs_183247300

5 SubmittersRCV000312400 RCV000726315 RCV001089336 RCV004549612

NM_004369.4(COL6A3):c.6255G>A (p.Gln2085=)

SNV
Germline

Chr2:237360115

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188391

rs_777097924

2 SubmittersRCV000297272 RCV002059263

NM_001848.3(COL6A1):c.1763C>T (p.Pro588Leu)

SNV
Germline

Chr21:45999679

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070536

rs_759442615

3 SubmittersRCV000380652 RCV001298873

NM_001848.3(COL6A1):c.1712A>C (p.Lys571Thr)

SNV
Germline

Chr21:45999190

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070496

rs_751040647

4 SubmittersRCV000286257 RCV000812322

NM_001849.4(COL6A2):c.2711C>T (p.Ala904Val)

SNV
Germline

Chr21:46132203

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072985

rs_376665722

4 SubmittersRCV000340331 RCV000559325

NM_004369.4(COL6A3):c.3755G>A (p.Arg1252His)

SNV
Germline

Chr2:237372262

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189081

rs_201314411

3 SubmittersRCV000370349 RCV001068738

NM_001849.4(COL6A2):c.2629G>A (p.Val877Met)

SNV
Germline

Chr21:46132121

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10072957

rs_369396198

5 SubmittersRCV000264028 RCV000706105 RCV004535434

NM_001848.3(COL6A1):c.2626G>A (p.Val876Met)

SNV
Germline

Chr21:46003552

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070984

rs_573185206

3 SubmittersRCV000362356 RCV002518094

NM_004369.4(COL6A3):c.5825C>T (p.Pro1942Leu)

SNV
Germline

Chr2:237365711

Conflicting classifications of pathogenicity

Condition: not provided
Dystonia 27
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188573

rs_150694150

6 SubmittersRCV000315447 RCV000765641 RCV001451134

NM_001848.3(COL6A1):c.932G>A (p.Gly311Asp)

SNV
Germline

Chr21:45990259

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10606509

rs_886044231

4 SubmittersRCV000498360 RCV001859702

NM_004369.4(COL6A3):c.6066C>T (p.Asp2022=)

SNV
Germline

Chr2:237361829

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10606516

rs_886044237

3 SubmittersRCV000386903 RCV001138820 RCV003631112

NM_004369.4(COL6A3):c.7368G>A (p.Thr2456=)

SNV
Germline

Chr2:237344650

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187815

rs_778474394

2 SubmittersRCV000282955 RCV001399694

NM_001849.4(COL6A2):c.2995G>A (p.Glu999Lys)

SNV
Germline

Chr21:46132487

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10073130

rs_142296092

3 SubmittersRCV000311292 RCV000800095 RCV002518099

NM_004369.4(COL6A3):c.6220G>A (p.Gly2074Ser)

SNV
Germline

Chr2:237360150

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10606535

rs_886044252

2 SubmittersRCV000356761 RCV000546975

NM_001849.4(COL6A2):c.1288G>A (p.Gly430Ser)

SNV
Germline

Chr21:46119806

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10071820

rs_765430501

4 SubmittersRCV000490233 RCV000653582 RCV004529478

NM_004369.4(COL6A3):c.1785C>T (p.Ile595=)

SNV
Germline

Chr2:237381027

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189559

rs_114278376

4 SubmittersRCV000366529 RCV000726378 RCV001392733

NM_004369.4(COL6A3):c.3680-4G>A

SNV
Germline

Chr2:237372341

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189096

rs_376123972

2 SubmittersRCV000292297 RCV001085487

NM_001849.4(COL6A2):c.955-1G>A

SNV
Germline

Chr21:46116769

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10606550

rs_886044265

2 SubmittersRCV000592663 RCV002519326

NM_004369.4(COL6A3):c.8865C>T (p.Pro2955=)

SNV
Germline

Chr2:237336235

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187428

rs_199936838

3 SubmittersRCV000365325 RCV001141063 RCV001398383

NM_001849.4(COL6A2):c.2658C>T (p.Gly886=)

SNV
Germline

Chr21:46132150

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072968

rs_143168888

2 SubmittersRCV000282683 RCV002059275

NM_004369.4(COL6A3):c.3223C>T (p.Arg1075Trp)

SNV
Germline

Chr2:237374868

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Dystonia 27
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA2189211

rs_201962257

7 SubmittersRCV000653597 RCV000726400 RCV000765645 RCV001136882

NM_001848.3(COL6A1):c.1553C>A (p.Thr518Asn)

SNV
Germline

Chr21:45998149

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070395

rs_201935658

3 SubmittersRCV000302645 RCV000332382 RCV000819830

NM_001849.4(COL6A2):c.567C>T (p.Ala189=)

SNV
Germline

Chr21:46112430

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071339

rs_563505047

3 SubmittersRCV000374520 RCV000726434 RCV001859709

NM_004369.4(COL6A3):c.786C>T (p.Leu262=)

SNV
Germline

Chr2:237388108

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189776

rs_111481402

5 SubmittersRCV000327473 RCV000406436 RCV000726442 RCV001079205

NM_004369.4(COL6A3):c.2303G>A (p.Arg768His)

SNV
Germline

Chr2:237378830

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189433

rs_575412915

5 SubmittersRCV000378139 RCV001329867

NM_004369.4(COL6A3):c.7590G>A (p.Val2530=)

SNV
Germline

Chr2:237344428

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187771

rs_115591088

4 SubmittersRCV000387686 RCV001445695

NM_004369.4(COL6A3):c.5470C>T (p.Leu1824Phe)

SNV
Germline

Chr2:237366717

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188665

rs_114131542

3 SubmittersRCV000267601 RCV000347436 RCV000792240

NM_004369.4(COL6A3):c.3934G>A (p.Val1312Met)

SNV
Germline

Chr2:237372083

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189037

rs_144878757

2 SubmittersRCV000341791 RCV002519336

NM_001849.4(COL6A2):c.2748C>T (p.His916=)

SNV
Germline

Chr21:46132240

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10073003

rs_372206114

2 SubmittersRCV000403904 RCV001426457

NM_001849.4(COL6A2):c.802-2A>G

SNV
Germline

Chr21:46115870

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10606708

rs_886044399

2 SubmittersRCV000597057 RCV002518124

NM_004369.4(COL6A3):c.4677C>T (p.Phe1559=)

SNV
Germline

Chr2:237368786

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188840

rs_147215386

4 SubmittersRCV000726454 RCV001078645

NM_001848.3(COL6A1):c.2793G>A (p.Ser931=)

SNV
Germline

Chr21:46003719

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071034

rs_148561616

3 SubmittersRCV000338301 RCV000405073 RCV001436266

NM_004369.4(COL6A3):c.6040G>T (p.Asp2014Tyr)

SNV
Germline

Chr2:237363276

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188495

rs_376548186

2 SubmittersRCV000290851 RCV001850464

NM_001849.4(COL6A2):c.2349G>A (p.Val783=)

SNV
Germline

Chr21:46126164

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10606729

rs_886044418

3 SubmittersRCV000348196 RCV002059284

NM_001849.4(COL6A2):c.1702C>T (p.Pro568Ser)

SNV
Germline

Chr21:46124681

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072121

rs_140097446

4 SubmittersRCV000343057 RCV001325819

NM_004369.4(COL6A3):c.3371C>T (p.Ala1124Val)

SNV
Germline

Chr2:237374720

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189180

rs_374447921

5 SubmittersRCV000318950 RCV000404395 RCV000530876

NM_001849.4(COL6A2):c.1356C>T (p.Pro452=)

SNV
Germline

Chr21:46120538

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10606742

rs_886044428

2 SubmittersRCV000344911 RCV000653653

NM_004369.4(COL6A3):c.5649C>A (p.Pro1883=)

SNV
Germline

Chr2:237365887

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10606745

rs_886044430

2 SubmittersRCV000406536 RCV002518132

NM_001848.3(COL6A1):c.1783G>A (p.Glu595Lys)

SNV
Germline

Chr21:46000337

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070572

rs_367650141

3 SubmittersRCV000389117 RCV001053474

NM_001849.4(COL6A2):c.2847C>T (p.Asp949=)

SNV
Germline

Chr21:46132339

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10073051

rs_369129061

2 SubmittersRCV000351377 RCV001475925

NM_004369.4(COL6A3):c.7513G>A (p.Gly2505Arg)

SNV
Germline

Chr2:237344505

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187792

rs_545819982

4 SubmittersRCV000333171 RCV000696056

NM_004369.4(COL6A3):c.284C>T (p.Thr95Met)

SNV
Germline

Chr2:237395012

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189899

rs_769697782

2 SubmittersRCV000309154 RCV001365391

NM_001849.4(COL6A2):c.2205C>T (p.His735=)

SNV
Germline

Chr21:46126020

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10072466

rs_755147431

4 SubmittersRCV000316070 RCV001078997 RCV001143525 RCV004543138

NM_001849.4(COL6A2):c.1117-7C>A

SNV
Germline

Chr21:46118607

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071707

rs_202094835

2 SubmittersRCV000284396 RCV001087947

NM_001848.3(COL6A1):c.931-1G>C

SNV
Germline

Chr21:45990257

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10606786

rs_886042354

2 SubmittersRCV000367488 RCV000803375

NM_001849.4(COL6A2):c.1585G>A (p.Glu529Lys)

SNV
Germline

Chr21:46122508

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
not specified
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Conflicting Classifications

CA10072010

rs_200667230

6 SubmittersRCV000407122 RCV001225882 RCV001820838 RCV003389051

NM_004369.4(COL6A3):c.7029+3A>G

SNV
Germline

Chr2:237347804

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA10606788

rs_886044464

3 SubmittersRCV000298791 RCV001035402 RCV004549623

NM_004369.4(COL6A3):c.1095G>C (p.Gly365=)

SNV
Germline

Chr2:237387799

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189705

rs_535498742

2 SubmittersRCV000387229 RCV001442110

NM_004369.4(COL6A3):c.4835C>T (p.Ser1612Leu)

SNV
Germline

Chr2:237368628

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188810

rs_201532239

2 SubmittersRCV000340601 RCV001403783

NM_001849.4(COL6A2):c.94G>A (p.Glu32Lys)

SNV
Germline

Chr21:46111570

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071176

rs_547648292

2 SubmittersRCV000306725 RCV002519342

NM_001848.3(COL6A1):c.776C>T (p.Pro259Leu)

SNV
Germline

Chr21:45987626

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069746

rs_767905829

3 SubmittersRCV000726504 RCV003517178

NM_001849.4(COL6A2):c.1779C>T (p.Asp593=)

SNV
Germline

Chr21:46125274

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072211

rs_139571947

3 SubmittersRCV000271536 RCV001139087 RCV001423757

NM_001848.3(COL6A1):c.822G>A (p.Pro274=)

SNV
Germline

Chr21:45989101

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10606841

rs_886044503

2 SubmittersRCV000350919 RCV001503123

NM_001849.4(COL6A2):c.2483C>T (p.Thr828Met)

SNV
Germline

Chr21:46131975

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10072902

rs_755782924

8 SubmittersRCV000278481 RCV000699042 RCV001139200 RCV003343746

NM_001848.3(COL6A1):c.1056+5G>T

SNV
Germline

Chr21:45990831

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10606851

rs_886044511

2 SubmittersRCV000281462 RCV001850473

NM_001849.4(COL6A2):c.627C>T (p.His209=)

SNV
Germline

Chr21:46112490

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071355

rs_545218705

2 SubmittersRCV000279429 RCV002059299

NM_001849.4(COL6A2):c.545A>G (p.Glu182Gly)

SNV
Germline

Chr21:46112408

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071333

rs_760509198

3 SubmittersRCV000334369 RCV000810817

NM_001848.3(COL6A1):c.2857G>A (p.Ala953Thr)

SNV
Germline

Chr21:46003783

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10071053

rs_150378645

5 SubmittersRCV000393008 RCV000800199 RCV000726530

NM_001848.3(COL6A1):c.957+1G>A

SNV
Germline

Chr21:45990285

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10606879

rs_886044535

2 SubmittersRCV000396948 RCV001850475

NM_001848.3(COL6A1):c.2349G>T (p.Arg783=)

SNV
Germline

Chr21:46002625

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070846

rs_373511343

2 SubmittersRCV000325315 RCV001392689

NM_001849.4(COL6A2):c.2538G>A (p.Glu846=)

SNV
Germline

Chr21:46132030

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072922

rs_144475977

2 SubmittersRCV000276191 RCV001087563

NM_001848.3(COL6A1):c.780G>A (p.Gly260=)

SNV
Germline

Chr21:45987630

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069748

rs_143396975

2 SubmittersRCV000333632 RCV001411685

NM_001849.4(COL6A2):c.1720G>C (p.Val574Leu)

SNV
Germline

Chr21:46124699

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy
COL6A2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10072126

rs_142021066

7 SubmittersRCV000394253 RCV000726572 RCV001084509 RCV001143419 RCV004543145 RCV003278744

NM_001849.4(COL6A2):c.1269G>C (p.Pro423=)

SNV
Germline

Chr21:46119119

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
COL6A2-related disorder
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071790

rs_144136807

4 SubmittersRCV000300050 RCV001136741 RCV004543146 RCV001850479

NM_001849.4(COL6A2):c.2016G>A (p.Glu672=)

SNV
Germline

Chr21:46125831

Conflicting classifications of pathogenicity

Myosclerosis
Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072410

rs_146323303

3 SubmittersRCV000265412 RCV000329456 RCV000355457 RCV001078838

NM_001849.4(COL6A2):c.2454C>T (p.Cys818=)

SNV
Germline

Chr21:46126534

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072628

rs_199499499

2 SubmittersRCV000309788 RCV001088833

NM_004369.4(COL6A3):c.6237C>T (p.Asn2079=)

SNV
Germline

Chr2:237360133

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188393

rs_34390834

2 SubmittersRCV000393006 RCV001434033

NM_004369.4(COL6A3):c.2932G>A (p.Ala978Thr)

SNV
Germline

Chr2:237376910

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189291

rs_768292803

3 SubmittersRCV000354464 RCV002518159

NM_004369.4(COL6A3):c.4425T>C (p.Val1475=)

SNV
Germline

Chr2:237369038

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188897

rs_779603740

3 SubmittersRCV000320275 RCV002059313

NM_001848.3(COL6A1):c.750C>A (p.Phe250Leu)

SNV
Germline

Chr21:45987510

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069712

rs_748153811

2 SubmittersRCV000281767 RCV000653567

NM_004369.4(COL6A3):c.1131C>T (p.Phe377=)

SNV
Germline

Chr2:237387763

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189698

rs_189772397

5 SubmittersRCV000290905 RCV000377325 RCV000726675 RCV001083780

NM_004369.4(COL6A3):c.5969G>A (p.Arg1990Gln)

SNV
Germline

Chr2:237363347

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2188509

rs_780489910

4 SubmittersRCV000380316 RCV000726678 RCV001203447 RCV004549631

NM_001849.4(COL6A2):c.2940G>A (p.Val980=)

SNV
Germline

Chr21:46132432

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10607070

rs_886044694

2 SubmittersRCV000345034 RCV001461030

NM_004369.4(COL6A3):c.8097G>A (p.Val2699=)

SNV
Germline

Chr2:237340819

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
not specified
Bethlem myopathy 1A
Inborn genetic diseases
Dystonia 27

Criteria Provided
Conflicting Classifications

CA2187630

rs_115757876

6 SubmittersRCV000350555 RCV000428967 RCV000871918 RCV004021803 RCV002298573

NM_004369.4(COL6A3):c.8050A>C (p.Lys2684Gln)

SNV
Germline

Chr2:237340866

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10612833

rs_886055803

2 SubmittersRCV000388647 RCV001314534

NM_004369.4(COL6A3):c.7755T>C (p.His2585=)

SNV
Germline

Chr2:237342075

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187714

rs_145581705

4 SubmittersRCV000359862 RCV000592983 RCV000727109 RCV001088849

NM_004369.4(COL6A3):c.5833G>A (p.Val1945Met)

SNV
Germline

Chr2:237365703

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Conflicting Classifications

CA2188571

rs_113332380

4 SubmittersRCV000314267 RCV001597100 RCV002519952 RCV003137960

NM_004369.4(COL6A3):c.5252C>T (p.Thr1751Met)

SNV
Germline

Chr2:237366935

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2188712

rs_201147199

3 SubmittersRCV000381887 RCV000805218 RCV003258771

NM_004369.4(COL6A3):c.3795C>A (p.Gly1265=)

SNV
Germline

Chr2:237372222

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10612845

rs_886055808

2 SubmittersRCV000346151 RCV001473234

NM_004369.4(COL6A3):c.3286C>T (p.Arg1096Cys)

SNV
Germline

Chr2:237374805

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2189198

rs_114852262

3 SubmittersRCV000353967 RCV001245096 RCV003137961

NM_004369.4(COL6A3):c.2189A>G (p.His730Arg)

SNV
Germline

Chr2:237378944

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189460

rs_760976593

4 SubmittersRCV000327990 RCV003144226 RCV002523126 RCV003168508

NM_004369.4(COL6A3):c.1063G>A (p.Ala355Thr)

SNV
Germline

Chr2:237387831

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2189718

rs_375022162

3 SubmittersRCV000345761 RCV001235361 RCV003144227

NM_004369.4(COL6A3):c.466G>T (p.Asp156Tyr)

SNV
Germline

Chr2:237394830

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189859

rs_199632952

5 SubmittersRCV000330460 RCV000734569 RCV001088712

NM_004369.4(COL6A3):c.461C>T (p.Ser154Leu)

SNV
Germline

Chr2:237394835

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189862

rs_147701785

6 SubmittersRCV000387185 RCV000594149 RCV000795594

NM_004369.4(COL6A3):c.9148G>A (p.Ala3050Thr)

SNV
Germline

Chr2:237334707

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
not specified
Dystonia 27
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2187346

rs_114596320

5 SubmittersRCV000396697 RCV000653682 RCV000428268 RCV002298572 RCV004549762

NM_004369.4(COL6A3):c.7029+10C>T

SNV
Germline

Chr2:237347797

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A
not specified

Criteria Provided
Conflicting Classifications

CA2187968

rs_376525317

5 SubmittersRCV000286829 RCV000729824 RCV001081080 RCV000613553

NM_004369.4(COL6A3):c.6852C>T (p.Ile2284=)

SNV
Germline

Chr2:237350174

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188061

rs_374952003

3 SubmittersRCV000315661 RCV000731920 RCV001078521

NM_004369.4(COL6A3):c.3862G>A (p.Ala1288Thr)

SNV
Germline

Chr2:237372155

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189057

rs_761799119

3 SubmittersRCV000349597 RCV003144224 RCV002523124

NM_004369.4(COL6A3):c.3751G>A (p.Val1251Ile)

SNV
Germline

Chr2:237372266

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A
See cases

Criteria Provided
Conflicting Classifications

CA2189083

rs_199646208

4 SubmittersRCV000392690 RCV000733500 RCV001087853 RCV002252099

NM_004369.4(COL6A3):c.3732C>T (p.Ala1244=)

SNV
Germline

Chr2:237372285

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2189089

rs_193265138

4 SubmittersRCV000305882 RCV000593615 RCV002519955 RCV004549763

NM_004369.4(COL6A3):c.1996G>A (p.Val666Ile)

SNV
Germline

Chr2:237379137

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189498

rs_111584250

4 SubmittersRCV000377726 RCV000997706 RCV001865214

NM_004369.4(COL6A3):c.1770T>C (p.Ala590=)

SNV
Germline

Chr2:237381042

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189562

rs_774234847

2 SubmittersRCV000408036 RCV002057680

NM_004369.4(COL6A3):c.1574C>T (p.Thr525Met)

SNV
Germline

Chr2:237381238

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189591

rs_755178814

4 SubmittersRCV000346069 RCV001239780 RCV003137962 RCV004021805

NM_004369.4(COL6A3):c.1313-7C>T

SNV
Germline

Chr2:237381506

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189642

rs_764201905

2 SubmittersRCV000318516 RCV000951930

NM_004369.4(COL6A3):c.5778G>A (p.Thr1926=)

SNV
Germline

Chr2:237365758

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188580

rs_555406717

2 SubmittersRCV000371376 RCV002519953

NM_004369.4(COL6A3):c.5646G>T (p.Ser1882=)

SNV
Germline

Chr2:237365890

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10614681

rs_886055807

2 SubmittersRCV000356116 RCV000653645

NM_004369.4(COL6A3):c.4935T>C (p.Asp1645=)

SNV
Germline

Chr2:237367252

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188765

rs_767560639

2 SubmittersRCV000293578 RCV002519954

NM_004369.4(COL6A3):c.3190C>T (p.Arg1064Trp)

SNV
Germline

Chr2:237374901

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2189222

rs_369810455

5 SubmittersRCV000384051 RCV000686574 RCV000731144

NM_004369.4(COL6A3):c.1562C>T (p.Ser521Leu)

SNV
Germline

Chr2:237381250

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2189596

rs_115881121

3 SubmittersRCV000404863 RCV001087014 RCV000730387

NM_004369.4(COL6A3):c.1557C>T (p.Asp519=)

SNV
Germline

Chr2:237381255

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189599

rs_145586177

3 SubmittersRCV000306530 RCV000598034 RCV001084758

NM_004369.4(COL6A3):c.5179C>T (p.Arg1727Trp)

SNV
Germline

Chr2:237367008

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2188724

rs_143074017

4 SubmittersRCV000271199 RCV000548120 RCV001571175

NM_004369.4(COL6A3):c.3235G>A (p.Glu1079Lys)

SNV
Germline

Chr2:237374856

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189207

rs_762778512

2 SubmittersRCV000369073 RCV002523125

NM_004369.4(COL6A3):c.414C>T (p.Ala138=)

SNV
Germline

Chr2:237394882

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189874

rs_148996231

3 SubmittersRCV000271825 RCV000598068 RCV001517180

NM_001848.3(COL6A1):c.794C>T (p.Pro265Leu)

SNV
Germline

Chr21:45987644

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069754

rs_757230924

4 SubmittersRCV000295751 RCV000595689 RCV001861185

NM_001848.3(COL6A1):c.958-10C>T

SNV
Germline

Chr21:45990368

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069940

rs_200508160

3 SubmittersRCV000337732 RCV000732805 RCV001501752

NM_001848.3(COL6A1):c.1694G>A (p.Arg565Gln)

SNV
Germline

Chr21:45999172

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10644868

rs_886057155

5 SubmittersRCV000324514 RCV001261410 RCV001764309

NM_001849.4(COL6A2):c.1013G>A (p.Arg338His)

SNV
Germline

Chr21:46117413

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Myosclerosis
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071632

rs_760872485

2 SubmittersRCV000262016 RCV000368303 RCV001214463

NM_001849.4(COL6A2):c.1674G>A (p.Ala558=)

SNV
Germline

Chr21:46124653

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Myosclerosis
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072113

rs_144334894

5 SubmittersRCV000303949 RCV000393933 RCV000730302 RCV001081672

NM_001849.4(COL6A2):c.1734+14C>T

SNV
Germline

Chr21:46124727

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Myosclerosis
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10644888

rs_886057167

2 SubmittersRCV000310024 RCV000364566 RCV002057779

NM_001849.4(COL6A2):c.2423-9C>G

SNV
Germline

Chr21:46126494

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Myosclerosis
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10072618

rs_368725753

3 SubmittersRCV000338477 RCV000400355 RCV001088671 RCV000596507

NM_001848.3(COL6A1):c.1980G>A (p.Ala660=)

SNV
Germline

Chr21:46001984

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070711

rs_370780432

3 SubmittersRCV000262534 RCV000734301 RCV001089264

NM_001849.4(COL6A2):c.542G>A (p.Arg181His)

SNV
Germline

Chr21:46112405

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Myosclerosis
Bethlem myopathy 1A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10071329

rs_371640468

4 SubmittersRCV000342235 RCV000393836 RCV001056159 RCV002523191 RCV003144235

NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln)

SNV
Germline

Chr21:46124685

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Myosclerosis
not specified
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10072124

rs_147158850

5 SubmittersRCV000393901 RCV000363263 RCV000593658 RCV000873809 RCV001812879

NM_001849.4(COL6A2):c.2575G>A (p.Val859Met)

SNV
Germline

Chr21:46132067

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Myosclerosis
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10072931

rs_370446082

6 SubmittersRCV000281777 RCV000320418 RCV000794426 RCV000593147

NM_001849.4(COL6A2):c.2917G>A (p.Val973Met)

SNV
Germline

Chr21:46132409

Conflicting classifications of pathogenicity

Myosclerosis
Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10073095

rs_145959270

3 SubmittersRCV000328906 RCV000385853 RCV000694258 RCV001569334

NM_001849.4(COL6A2):c.2978G>A (p.Arg993His)

SNV
Germline

Chr21:46132470

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Myosclerosis
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10073123

rs_544436881

3 SubmittersRCV000278533 RCV000389290 RCV003137965 RCV001343854

NM_001849.4(COL6A2):c.3034G>A (p.Asp1012Asn)

SNV
Germline

Chr21:46132526

Conflicting classifications of pathogenicity

Myosclerosis
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10073149

rs_372431744

4 SubmittersRCV000276274 RCV000368594 RCV000597101 RCV002057780

NM_001848.3(COL6A1):c.1209C>G (p.Pro403=)

SNV
Germline

Chr21:45992190

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10653065

rs_763249073

2 SubmittersRCV000388432 RCV003631117

NM_001849.4(COL6A2):c.649G>A (p.Ala217Thr)

SNV
Germline

Chr21:46112512

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Myosclerosis
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071363

rs_530625182

4 SubmittersRCV000270969 RCV000363224 RCV000512764 RCV001865241

NM_001849.4(COL6A2):c.901-10C>T

SNV
Germline

Chr21:46116367

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Myosclerosis
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10653088

rs_754039292

2 SubmittersRCV000347316 RCV000407690 RCV001446051

NM_001849.4(COL6A2):c.1599C>T (p.Arg533=)

SNV
Germline

Chr21:46122522

Conflicting classifications of pathogenicity

Myosclerosis
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072016

rs_373635709

4 SubmittersRCV000296822 RCV000332961 RCV000731787 RCV001082481

NM_001849.4(COL6A2):c.2591C>T (p.Thr864Met)

SNV
Germline

Chr21:46132083

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Myosclerosis
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10072940

rs_200488881

3 SubmittersRCV000344482 RCV000401616 RCV000804442 RCV003430869

NM_001849.4(COL6A2):c.2712G>A (p.Ala904=)

SNV
Germline

Chr21:46132204

Conflicting classifications of pathogenicity

Myosclerosis
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072986

rs_139116075

3 SubmittersRCV000291050 RCV000383013 RCV000733642 RCV001445261

NM_001849.4(COL6A2):c.2788C>T (p.Arg930Cys)

SNV
Germline

Chr21:46132280

Conflicting classifications of pathogenicity

Myosclerosis
Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10653091

rs_886057168

3 SubmittersRCV000337382 RCV000392176 RCV000653558 RCV003144236

NM_001848.3(COL6A1):c.739-9C>T

SNV
Germline

Chr21:45987490

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10653689

rs_886057149

2 SubmittersRCV000289966 RCV001452521

NM_001849.4(COL6A2):c.620C>G (p.Thr207Arg)

SNV
Germline

Chr21:46112483

Conflicting classifications of pathogenicity

Myosclerosis
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071351

rs_760395633

3 SubmittersRCV000310823 RCV000393856 RCV001569668 RCV002523192

NM_001849.4(COL6A2):c.1911C>T (p.Phe637=)

SNV
Germline

Chr21:46125559

Conflicting classifications of pathogenicity

Myosclerosis
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072328

rs_746339542

2 SubmittersRCV000312456 RCV000390038 RCV002523193

NM_001849.4(COL6A2):c.2134G>T (p.Asp712Tyr)

SNV
Germline

Chr21:46125949

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Myosclerosis
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10653709

rs_375608173

2 SubmittersRCV000346561 RCV000387074 RCV000808997

NM_001849.4(COL6A2):c.2250C>T (p.Arg750=)

SNV
Germline

Chr21:46126065

Conflicting classifications of pathogenicity

Myosclerosis
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072485

rs_200096552

3 SubmittersRCV000328455 RCV000364635 RCV000732427 RCV002523194

NM_001849.4(COL6A2):c.2523C>T (p.Ser841=)

SNV
Germline

Chr21:46132015

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Myosclerosis
not specified
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072916

rs_149697707

3 SubmittersRCV000274976 RCV000332359 RCV000604934 RCV000955634

NM_001849.4(COL6A2):c.2986G>A (p.Val996Met)

SNV
Germline

Chr21:46132478

Conflicting classifications of pathogenicity

Myosclerosis
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10073128

rs_142432514

2 SubmittersRCV000308256 RCV000365215 RCV000551844

NM_004369.4(COL6A3):c.1867C>T (p.Pro623Ser)

SNV
Germline

Chr2:237380945

Conflicting classifications of pathogenicity

not specified
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2189537

rs_372022185

4 SubmittersRCV000413959 RCV000704566 RCV000726933

NM_001848.3(COL6A1):c.2968A>C (p.Lys990Gln)

SNV
Germline

Chr21:46003894

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A
COL6A1-related disorder

Criteria Provided
Conflicting Classifications

CA10071090

rs_141663473

5 SubmittersRCV000413854 RCV000727243 RCV001088252 RCV004544724

NM_001849.4(COL6A2):c.855+1G>A

SNV
Germline

Chr21:46115926

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA16043243

rs_1057517988

2 SubmittersRCV000414393 RCV001861417

NM_001849.4(COL6A2):c.736-2A>G

SNV
Germline

Chr21:46114006

Pathogenic/Likely pathogenic

Limb-girdle muscle weakness
Hyperextensible hand joints
Fatigue
Muscular dystrophy
Condition: not provided
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA16043569

rs_1057518925

4 SubmittersRCV000415423 RCV000733636 RCV001775116 RCV003517189

NM_001849.4(COL6A2):c.1605C>T (p.Pro535=)

SNV
Germline

Chr21:46122528

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072018

rs_377476546

4 SubmittersRCV000416252 RCV001078940

NM_001848.3(COL6A1):c.904-2A>G

SNV
Germline

Chr21:45989750

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A
COL6A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16043819

rs_1057519174

4 SubmittersRCV000416072 RCV001379718 RCV004529570

NM_004369.4(COL6A3):c.5743C>T (p.Arg1915Trp)

SNV
Germline

Chr2:237365793

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188588

rs_201938007

4 SubmittersRCV000415802 RCV000653546

NM_004369.4(COL6A3):c.4146G>A (p.Ser1382=)

SNV
Germline

Chr2:237371871

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA2188985

rs_114791158

5 SubmittersRCV000727301 RCV001083454 RCV001136784

NM_004369.4(COL6A3):c.1530C>T (p.Thr510=)

SNV
Germline

Chr2:237381282

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189606

rs_373281009

3 SubmittersRCV000441864 RCV000876177 RCV002063621

NM_004370.6(COL12A1):c.4798T>C (p.Tyr1600His)

SNV
Germline

Chr6:75143281

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

CA3893347

rs_180718181

4 SubmittersRCV000441031 RCV000798902

NM_004370.6(COL12A1):c.7477G>A (p.Glu2493Lys)

SNV
Germline

Chr6:75117424

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

CA3892555

rs_372985511

2 SubmittersRCV000444377 RCV000652906

NM_004370.6(COL12A1):c.856C>G (p.Gln286Glu)

SNV
Germline

Chr6:75188503

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3894318

rs_369360559

4 SubmittersRCV000431517 RCV001223141 RCV002522639

NM_001848.3(COL6A1):c.859G>A (p.Gly287Arg)

SNV
Germline

Chr21:45989608

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA16608537

rs_1057521152

2 SubmittersRCV000423549 RCV001212382

NM_001849.4(COL6A2):c.459C>T (p.Thr153=)

SNV
Germline

Chr21:46112322

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071297

rs_764014106

4 SubmittersRCV000726494 RCV001143207 RCV001501842

NM_001849.4(COL6A2):c.648C>T (p.Tyr216=)

SNV
Germline

Chr21:46112511

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071362

rs_150004111

3 SubmittersRCV000436697 RCV000726947 RCV003631120

NM_001849.4(COL6A2):c.2565C>T (p.Phe855=)

SNV
Germline

Chr21:46132057

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10072929

rs_774805224

5 SubmittersRCV000428550 RCV000734891 RCV001436727 RCV004533118

NM_001848.3(COL6A1):c.1782C>T (p.Cys594=)

SNV
Germline

Chr21:46000336

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070571

rs_745847824

4 SubmittersRCV000419140 RCV000727527 RCV000805079

NM_001849.4(COL6A2):c.1572+1G>A

SNV
Germline

Chr21:46122159

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA16608565

rs_1057520717

4 SubmittersRCV000423788 RCV001851051

NM_001849.4(COL6A2):c.2841C>T (p.Leu947=)

SNV
Germline

Chr21:46132333

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10073046

rs_532522222

3 SubmittersRCV000438497 RCV000726796 RCV002059747

NM_001848.3(COL6A1):c.2220G>T (p.Pro740=)

SNV
Germline

Chr21:46002371

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070793

rs_138976133

3 SubmittersRCV000425293 RCV000727263 RCV001491438

NM_004369.4(COL6A3):c.6167G>A (p.Gly2056Glu)

SNV
Germline

Chr2:237361164

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA16617501

rs_1064795558

3 SubmittersRCV000486882 RCV000800319

NM_004369.4(COL6A3):c.2506C>T (p.Arg836Ter)

SNV
Germline

Chr2:237377336

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Dystonia 27

Criteria Provided
Multiple Submitters
No Conflicts

CA2189382

rs_761796175

4 SubmittersRCV000482545 RCV000704208 RCV003224805

NM_001848.3(COL6A1):c.329G>A (p.Arg110His)

SNV
Germline

Chr21:45984370

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10069528

rs_773139115

3 SubmittersRCV001476375 RCV000481388

NM_001848.3(COL6A1):c.815G>A (p.Gly272Asp)

SNV
Germline

Chr21:45989094

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA16621025

rs_1064793840

2 SubmittersRCV000481274 RCV002525796

NM_001848.3(COL6A1):c.2746G>A (p.Val916Ile)

SNV
Germline

Chr21:46003672

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
not specified
COL6A1-related disorder

Criteria Provided
Conflicting Classifications

CA10071020

rs_563043611

6 SubmittersRCV000537709 RCV000734240 RCV004526689 RCV004535516

NM_001849.4(COL6A2):c.1561C>T (p.Arg521Ter)

SNV
Germline

Chr21:46122147

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071976

rs_773686174

4 SubmittersRCV000481104 RCV001381261

NM_004369.4(COL6A3):c.4240G>C (p.Glu1414Gln)

SNV
Germline

Chr2:237371777

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188967

rs_539986030

4 SubmittersRCV000488365 RCV000821801

NM_004369.4(COL6A3):c.3668T>C (p.Leu1223Pro)

SNV
Germline

Chr2:237374423

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
not specified

Criteria Provided
Conflicting Classifications

CA2189121

rs_772944531

5 SubmittersRCV000487720 RCV000821173 RCV001731716

NM_004369.4(COL6A3):c.3549C>G (p.Asp1183Glu)

SNV
Germline

Chr2:237374542

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189146

rs_762240306

4 SubmittersRCV000488005 RCV000821825

NM_001849.4(COL6A2):c.2608G>A (p.Asp870Asn)

SNV
Germline

Chr21:46132100

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072948

rs_145785230

5 SubmittersRCV000488099 RCV001452859

NM_004370.6(COL12A1):c.7853C>T (p.Thr2618Met)

SNV
Germline

Chr6:75113301

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

CA3892440

rs_201988277

6 SubmittersRCV000487682 RCV000652916

NM_004370.6(COL12A1):c.5224C>T (p.Arg1742Cys)

SNV
Germline

Chr6:75138454

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

CA3893225

rs_530680231

4 SubmittersRCV000489488 RCV000803721

NM_001849.4(COL6A2):c.2093C>T (p.Ala698Val)

SNV
Germline

Chr21:46125908

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA410541522

rs_1085307668

3 SubmittersRCV000489066 RCV001376646

NM_004369.4(COL6A3):c.9445G>A (p.Glu3149Lys)

SNV
Germline

Chr2:237325608

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2187271

rs_138694883

3 SubmittersRCV000494209 RCV001326535 RCV002524044

NM_004369.4(COL6A3):c.9217A>G (p.Ser3073Gly)

SNV
Germline

Chr2:237334638

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187327

rs_199680718

4 SubmittersRCV000493809 RCV001142819 RCV002063859

NM_004369.4(COL6A3):c.6604C>T (p.Arg2202Ter)

SNV
Germline

Chr2:237354922

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA351213744

rs_774115247

2 SubmittersRCV000493437 RCV001389456

NM_001848.3(COL6A1):c.631C>T (p.Arg211Cys)

SNV
Germline

Chr21:45986986

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10069639

rs_375217284

6 SubmittersRCV000493688 RCV000695796 RCV001137825 RCV002527089

NM_004369.4(COL6A3):c.4894C>T (p.Arg1632Trp)

SNV
Germline

Chr2:237368569

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188792

rs_113755498

2 SubmittersRCV000497764 RCV002524090

NM_001848.3(COL6A1):c.2275G>A (p.Val759Met)

SNV
Germline

Chr21:46002551

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070835

rs_373383488

2 SubmittersRCV000497443 RCV001857018

NM_001848.3(COL6A1):c.2465-4G>A

SNV
Germline

Chr21:46003387

Conflicting classifications of pathogenicity

not specified
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070937

rs_769559126

2 SubmittersRCV000502141 RCV001488851

NM_001848.3(COL6A1):c.2569G>A (p.Glu857Lys)

SNV
Germline

Chr21:46003495

Conflicting classifications of pathogenicity

not specified
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10070961

rs_570688674

4 SubmittersRCV000499503 RCV000812752 RCV001553521

NM_001849.4(COL6A2):c.902G>T (p.Gly301Val)

SNV
Germline

Chr21:46116378

Conflicting classifications of pathogenicity

not specified
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA410525586

rs_1555872965

2 SubmittersRCV000499945 RCV001063163

NM_001849.4(COL6A2):c.855+1G>C

SNV
Germline

Chr21:46115926

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA410524952

rs_1057517988

3 SubmittersRCV000513339 RCV001857321

NM_004369.4(COL6A3):c.9344C>T (p.Pro3115Leu)

SNV
Germline

Chr2:237325709

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187287

rs_138109666

2 SubmittersRCV000522481 RCV000533051

NM_004369.4(COL6A3):c.7843G>A (p.Asp2615Asn)

SNV
Germline

Chr2:237341073

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2187682

rs_145884404

4 SubmittersRCV000732252 RCV001078607 RCV002525235

NM_004369.4(COL6A3):c.6451G>C (p.Val2151Leu)

SNV
Germline

Chr2:237358541

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2188286

rs_768565928

4 SubmittersRCV000812792 RCV000728295 RCV004553145

NM_004369.4(COL6A3):c.5393G>A (p.Arg1798His)

SNV
Germline

Chr2:237366794

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA2188678

rs_371441617

4 SubmittersRCV000727271 RCV000792561 RCV001143252

NM_004369.4(COL6A3):c.4504G>A (p.Ala1502Thr)

SNV
Germline

Chr2:237368959

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA67816612

rs_201722265

3 SubmittersRCV000523100 RCV001141519 RCV001297709

NM_004369.4(COL6A3):c.4432G>A (p.Val1478Met)

SNV
Germline

Chr2:237369031

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188895

rs_374493032

2 SubmittersRCV000520483 RCV000653583

NM_004369.4(COL6A3):c.3598G>T (p.Val1200Phe)

SNV
Germline

Chr2:237374493

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189136

rs_779028054

3 SubmittersRCV000522488 RCV000688426

NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn)

SNV
Germline

Chr2:237374871

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A
Dystonia 27
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189212

rs_778403814

6 SubmittersRCV000727405 RCV000661955 RCV000661956 RCV000661957 RCV003278864

NM_004369.4(COL6A3):c.409C>T (p.Arg137Trp)

SNV
Germline

Chr2:237394887

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189875

rs_143819673

3 SubmittersRCV000521063 RCV001216065

NM_004370.6(COL12A1):c.4564C>T (p.Arg1522Cys)

SNV
Germline

Chr6:75145452

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

CA3893407

rs_574863380

4 SubmittersRCV000519676 RCV003302754 RCV001857946

NM_004370.6(COL12A1):c.3857G>A (p.Arg1286His)

SNV
Germline

Chr6:75152010

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

CA3893597

rs_191757914

3 SubmittersRCV000523224 RCV000821262

NM_004370.6(COL12A1):c.3767A>T (p.His1256Leu)

SNV
Germline

Chr6:75152199

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

CA3893627

rs_199692759

2 SubmittersRCV000522585 RCV001040866

NM_004370.6(COL12A1):c.3383G>A (p.Arg1128Lys)

SNV
Germline

Chr6:75155722

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3893741

rs_373637483

4 SubmittersRCV000518879 RCV000802768 RCV002527638

NM_004370.6(COL12A1):c.3325C>G (p.Pro1109Ala)

SNV
Germline

Chr6:75155780

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

CA3893752

rs_528319887

3 SubmittersRCV000520727 RCV001323081

NM_004370.6(COL12A1):c.2233C>T (p.Gln745Ter)

SNV
Germline

Chr6:75177867

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

CA364764338

rs_1554186583

2 SubmittersRCV000519797 RCV003766952

NM_001848.3(COL6A1):c.614C>T (p.Thr205Met)

SNV
Germline

Chr21:45986969

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA410518471

rs_1343618467

3 SubmittersRCV000523131 RCV001851493

NM_001848.3(COL6A1):c.2653C>T (p.Arg885Cys)

SNV
Germline

Chr21:46003579

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070992

rs_746298580

4 SubmittersRCV000729140 RCV001226905

NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala)

SNV
Germline

Chr21:46003802

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10071059

rs_144814689

6 SubmittersRCV001085503 RCV000726628 RCV002469180

NM_004369.4(COL6A3):c.8615C>T (p.Thr2872Met)

SNV
Germline

Chr2:237336485

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2187492

rs_759009226

3 SubmittersRCV000555066 RCV000594693

NM_004369.4(COL6A3):c.7256G>C (p.Gly2419Ala)

SNV
Germline

Chr2:237344762

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA351204205

rs_1339553173

3 SubmittersRCV000532702 RCV002223227

NM_004369.4(COL6A3):c.5657G>A (p.Arg1886His)

SNV
Germline

Chr2:237365879

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2188612

rs_368379003

4 SubmittersRCV000531292 RCV003144374 RCV003352926 RCV004553251

NM_004369.4(COL6A3):c.4104G>A (p.Thr1368=)

SNV
Germline

Chr2:237371913

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2188993

rs_777649526

2 SubmittersRCV000540348 RCV000591167

NM_004369.4(COL6A3):c.2972C>T (p.Ala991Val)

SNV
Germline

Chr2:237376870

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Tip-toe gait
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2189278

rs_202185764

4 SubmittersRCV000538546 RCV001358776 RCV002526736 RCV003144372

NM_004369.4(COL6A3):c.2620C>T (p.Arg874Ter)

SNV
Germline

Chr2:237377222

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA351211117

rs_1553561409

1 SubmittersRCV000558187

NM_004369.4(COL6A3):c.1977C>T (p.Arg659=)

SNV
Germline

Chr2:237379156

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189503

rs_141280228

3 SubmittersRCV000730995 RCV001088484

NM_004369.4(COL6A3):c.1061G>A (p.Ser354Asn)

SNV
Germline

Chr2:237387833

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA351222204

rs_1416475329

2 SubmittersRCV000541712 RCV003144370

NM_004369.4(COL6A3):c.8621C>T (p.Thr2874Met)

SNV
Germline

Chr2:237336479

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2187491

rs_779335085

2 SubmittersRCV000546406 RCV003139857

NM_004369.4(COL6A3):c.7331G>C (p.Arg2444Pro)

SNV
Germline

Chr2:237344687

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA351203731

rs_895701604

1 SubmittersRCV000559787

NM_004369.4(COL6A3):c.6230G>T (p.Gly2077Val)

SNV
Germline

Chr2:237360140

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA351216678

rs_1553553646

1 SubmittersRCV000529470

NM_004369.4(COL6A3):c.5734G>A (p.Glu1912Lys)

SNV
Germline

Chr2:237365802

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Dystonia 27
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2188590

rs_113251155

5 SubmittersRCV000543905 RCV000593713 RCV001329871 RCV002526737

NM_004369.4(COL6A3):c.4691G>A (p.Arg1564His)

SNV
Germline

Chr2:237368772

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2188831

rs_368151192

2 SubmittersRCV000541981 RCV003480692

NM_004369.4(COL6A3):c.1293G>A (p.Pro431=)

SNV
Germline

Chr2:237387601

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2189663

rs_376912950

3 SubmittersRCV000552667 RCV000591318

NM_004369.4(COL6A3):c.76C>T (p.Gln26Ter)

SNV
Germline

Chr2:237396742

Pathogenic

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2189961

rs_763187844

3 SubmittersRCV000543703 RCV001783061

NM_004369.4(COL6A3):c.6853G>A (p.Gly2285Arg)

SNV
Germline

Chr2:237350173

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA351209193

rs_1268762655

1 SubmittersRCV000549430

NM_004369.4(COL6A3):c.6613C>A (p.Pro2205Thr)

SNV
Germline

Chr2:237354913

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2188172

rs_748768672

2 SubmittersRCV000534801 RCV003159938

NM_004369.4(COL6A3):c.6230G>A (p.Gly2077Asp)

SNV
Germline

Chr2:237360140

Pathogenic/Likely pathogenic

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351216671

rs_1553553646

3 SubmittersRCV000557822 RCV000598340

NM_004369.4(COL6A3):c.5128G>A (p.Val1710Ile)

SNV
Germline

Chr2:237367059

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2188739

rs_773631759

3 SubmittersRCV000551304 RCV003144373 RCV003159937

NM_004369.4(COL6A3):c.4742C>G (p.Thr1581Arg)

SNV
Germline

Chr2:237368721

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA351192223

rs_1156524068

3 SubmittersRCV000530753 RCV002274066

NM_004369.4(COL6A3):c.4671C>T (p.Ser1557=)

SNV
Germline

Chr2:237368792

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2188843

rs_116760648

2 SubmittersRCV000549477 RCV000591457

NM_004369.4(COL6A3):c.2487C>T (p.Leu829=)

SNV
Germline

Chr2:237378646

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189404

rs_752530417

3 SubmittersRCV000734326 RCV001496603

NM_004369.4(COL6A3):c.2206G>A (p.Gly736Ser)

SNV
Germline

Chr2:237378927

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA2189456

rs_150008830

4 SubmittersRCV000530306 RCV000732713 RCV003329167

NM_004369.4(COL6A3):c.8201G>A (p.Arg2734Gln)

SNV
Germline

Chr2:237340715

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2187602

rs_115116398

3 SubmittersRCV000539637 RCV003488694

NM_004369.4(COL6A3):c.7402G>A (p.Val2468Ile)

SNV
Germline

Chr2:237344616

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2187808

rs_527516269

2 SubmittersRCV000536751 RCV004024370

NM_004369.4(COL6A3):c.6117G>C (p.Gln2039His)

SNV
Germline

Chr2:237361778

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2188461

rs_750063736

2 SubmittersRCV000540239 RCV003144375

NM_004369.4(COL6A3):c.5869G>A (p.Gly1957Arg)

SNV
Germline

Chr2:237364398

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2188547

rs_554219567

2 SubmittersRCV000537596 RCV001591299

NM_004369.4(COL6A3):c.4309A>T (p.Ile1437Phe)

SNV
Germline

Chr2:237369154

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Dystonia 27

Criteria Provided
Conflicting Classifications

CA2188918

rs_144314743

4 SubmittersRCV000546203 RCV000727675 RCV000765643

NM_004370.6(COL12A1):c.5221G>A (p.Glu1741Lys)

SNV
Germline

Chr6:75138457

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

CA3893227

rs_200201449

3 SubmittersRCV000545369 RCV001085764

NM_004370.6(COL12A1):c.8639A>G (p.His2880Arg)

SNV
Germline

Chr6:75095118

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Inborn genetic diseases
COL12A1-related disorder

Criteria Provided
Conflicting Classifications

CA3892185

rs_185171880

4 SubmittersRCV000542800 RCV001584355 RCV002527917 RCV003905471

NM_004370.6(COL12A1):c.6448T>C (p.Tyr2150His)

SNV
Germline

Chr6:75126363

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3892808

rs_200450866

5 SubmittersRCV000532029 RCV001569986 RCV004526704

NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp)

SNV
Germline

Chr6:75134840

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3893134

rs_201973949

4 SubmittersRCV000559299 RCV001797105

NM_004370.6(COL12A1):c.4613A>G (p.Asn1538Ser)

SNV
Germline

Chr6:75145403

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3893401

rs_115246424

5 SubmittersRCV000531413 RCV001420886 RCV002466535 RCV004024346

NM_004370.6(COL12A1):c.3310C>T (p.Arg1104Ter)

SNV
Germline

Chr6:75155795

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA364752807

rs_1329022055

3 SubmittersRCV000537283 RCV002245013

NM_004370.6(COL12A1):c.2879C>T (p.Thr960Met)

SNV
Germline

Chr6:75165611

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Bethlem myopathy

Criteria Provided
Conflicting Classifications

CA3893859

rs_200698641

4 SubmittersRCV000544804 RCV001591293 RCV002508939

NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr)

SNV
Germline

Chr6:75132038

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3892989

rs_191233787

5 SubmittersRCV000536812 RCV001551411

NM_004370.6(COL12A1):c.3202A>G (p.Ile1068Val)

SNV
Germline

Chr6:75156305

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3893785

rs_201852681

3 SubmittersRCV000558670 RCV001584351 RCV003243196

NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile)

SNV
Germline

Chr6:75189603

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3894392

rs_375673671

6 SubmittersRCV000539466 RCV001566196 RCV004024348

NM_004370.6(COL12A1):c.8405C>T (p.Pro2802Leu)

SNV
Germline

Chr6:75102607

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
COL12A1-related disorder

Criteria Provided
Conflicting Classifications

CA3892294

rs_200646131

3 SubmittersRCV000555051 RCV001561722 RCV003905470

NM_004370.6(COL12A1):c.7223C>T (p.Thr2408Met)

SNV
Germline

Chr6:75119174

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3892611

rs_141593495

4 SubmittersRCV000534733 RCV001509277

NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile)

SNV
Germline

Chr6:75134783

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Cataract 16 multiple types

Criteria Provided
Conflicting Classifications

CA3893123

rs_201408175

5 SubmittersRCV000537883 RCV001509278 RCV001542757

NM_004370.6(COL12A1):c.1897G>T (p.Val633Phe)

SNV
Germline

Chr6:75181206

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3894093

rs_200315815

3 SubmittersRCV000538608 RCV001584350

NM_001848.3(COL6A1):c.1540G>A (p.Ala514Thr)

SNV
Germline

Chr21:45998136

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10070394

rs_760815168

3 SubmittersRCV000532828 RCV000594225

NM_001848.3(COL6A1):c.1930C>T (p.Arg644Trp)

SNV
Germline

Chr21:46001360

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10070655

rs_146622557

2 SubmittersRCV000555811 RCV003144367

NM_001848.3(COL6A1):c.2615G>A (p.Arg872Gln)

SNV
Germline

Chr21:46003541

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10070982

rs_377586358

2 SubmittersRCV000555212 RCV003139856

NM_001849.4(COL6A2):c.812G>T (p.Gly271Val)

SNV
Germline

Chr21:46115882

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410524658

rs_794727788

1 SubmittersRCV000533493

NM_001849.4(COL6A2):c.1000-2A>C

SNV
Germline

Chr21:46117398

Pathogenic

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA410527294

rs_1555873356

3 SubmittersRCV000540933 RCV000578736

NM_001849.4(COL6A2):c.1836C>T (p.Gly612=)

SNV
Germline

Chr21:46125484

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072305

rs_141257132

4 SubmittersRCV000591791 RCV001085124

NM_001849.4(COL6A2):c.2470G>A (p.Val824Met)

SNV
Germline

Chr21:46131962

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Collagen 6-related myopathy
Myosclerosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10072899

rs_758758266

3 SubmittersRCV000525313 RCV001139199 RCV001139198 RCV003229838

NM_001849.4(COL6A2):c.2572C>T (p.Gln858Ter)

SNV
Germline

Chr21:46132064

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410548425

rs_1555877252

1 SubmittersRCV000525868

NM_001848.3(COL6A1):c.1399-8C>G

SNV
Germline

Chr21:45997413

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070291

rs_749529856

2 SubmittersRCV000592205 RCV001424700

NM_001848.3(COL6A1):c.1959C>T (p.Phe653=)

SNV
Germline

Chr21:46001963

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A1-related disorder

Criteria Provided
Conflicting Classifications

CA10070699

rs_112104768

4 SubmittersRCV000594128 RCV001086474 RCV004543238

NM_001848.3(COL6A1):c.2638G>A (p.Gly880Ser)

SNV
Germline

Chr21:46003564

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070988

rs_544927344

2 SubmittersRCV000559950 RCV001517676

NM_001848.3(COL6A1):c.2911G>A (p.Val971Met)

SNV
Germline

Chr21:46003837

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10071071

rs_769795690

3 SubmittersRCV000529864 RCV000661925 RCV003144369

NM_001849.4(COL6A2):c.115+2T>C

SNV
Germline

Chr21:46111593

Pathogenic/Likely pathogenic

Bethlem myopathy 1A
Collagen 6-related myopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10071178

rs_770842374

3 SubmittersRCV000554332 RCV000779359 RCV003318594

NM_001849.4(COL6A2):c.874G>C (p.Gly292Arg)

SNV
Germline

Chr21:46116027

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410525191

rs_727502828

1 SubmittersRCV000535368

NM_001849.4(COL6A2):c.1606G>A (p.Glu536Lys)

SNV
Germline

Chr21:46122529

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA10072019

rs_143338050

5 SubmittersRCV000594262 RCV001085505 RCV001141593

NM_001849.4(COL6A2):c.2002G>T (p.Glu668Ter)

SNV
Germline

Chr21:46125817

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410539722

rs_138948335

1 SubmittersRCV000537082

NM_001849.4(COL6A2):c.2697G>A (p.Thr899=)

SNV
Germline

Chr21:46132189

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
not specified
Collagen 6-related myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10072979

rs_11554669

4 SubmittersRCV000546795 RCV000609723 RCV001143621 RCV003431122

NM_001848.3(COL6A1):c.823G>T (p.Gly275Trp)

SNV
Germline

Chr21:45989102

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410521476

rs_1556425467

1 SubmittersRCV000544305

NM_001848.3(COL6A1):c.868G>T (p.Gly290Trp)

SNV
Germline

Chr21:45989617

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410521749

rs_121912939

1 SubmittersRCV000557620

NM_001848.3(COL6A1):c.880C>G (p.Pro294Ala)

SNV
Germline

Chr21:45989629

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10069824

rs_141572895

2 SubmittersRCV000547261 RCV004024369

NM_001849.4(COL6A2):c.344G>A (p.Arg115Gln)

SNV
Germline

Chr21:46112207

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071269

rs_145352569

4 SubmittersRCV000730361 RCV001084615

NM_001849.4(COL6A2):c.987C>T (p.Thr329=)

SNV
Germline

Chr21:46116802

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071601

rs_748215430

2 SubmittersRCV000730529 RCV001471457

NM_001849.4(COL6A2):c.2766G>A (p.Val922=)

SNV
Germline

Chr21:46132258

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10073012

rs_557446829

2 SubmittersRCV000527074 RCV000997847

NM_001849.4(COL6A2):c.2927T>C (p.Leu976Ser)

SNV
Germline

Chr21:46132419

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10073100

rs_200200671

4 SubmittersRCV000556569 RCV000660619 RCV000733635

NM_001849.4(COL6A2):c.3047G>A (p.Arg1016His)

SNV
Germline

Chr21:46132539

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10073156

rs_376368468

2 SubmittersRCV000541027 RCV001653926

NM_001848.3(COL6A1):c.1379T>C (p.Val460Ala)

SNV
Germline

Chr21:45994210

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10070265

rs_140735590

3 SubmittersRCV000525237 RCV000733314 RCV002527929

NM_001848.3(COL6A1):c.2820G>A (p.Leu940=)

SNV
Germline

Chr21:46003746

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A1-related disorder

Criteria Provided
Conflicting Classifications

CA10071042

rs_111451684

4 SubmittersRCV000591795 RCV001084881 RCV004543240

NM_001849.4(COL6A2):c.426G>A (p.Thr142=)

SNV
Germline

Chr21:46112289

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071288

rs_149480738

3 SubmittersRCV000597796 RCV000726671 RCV001087484

NM_001849.4(COL6A2):c.1459-2A>G

SNV
Germline

Chr21:46121554

Pathogenic

Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1B

Criteria Provided
Single Submitter

CA10071908

rs_749974929

2 SubmittersRCV000550156 RCV003767089

NM_001849.4(COL6A2):c.2407G>A (p.Asp803Asn)

SNV
Germline

Chr21:46126222

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10072551

rs_761913437

2 SubmittersRCV000548374 RCV003258877

NM_004369.4(COL6A3):c.6156+1G>A

SNV
Germline

Chr2:237361738

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA351217634

rs_1553554298

3 SubmittersRCV000578830 RCV002529043

NM_004369.4(COL6A3):c.4390C>T (p.Arg1464Ter)

SNV
Germline

Chr2:237369073

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA67816816

rs_912671116

2 SubmittersRCV000579094 RCV003631131

NM_001849.4(COL6A2):c.2627G>A (p.Arg876His)

SNV
Germline

Chr21:46132119

Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA321979833

rs_1012567148

3 SubmittersRCV000584913 RCV000653580

NM_004369.4(COL6A3):c.1605C>T (p.Asn535=)

SNV
Germline

Chr2:237381207

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189582

rs_763426415

2 SubmittersRCV000598223 RCV002065139

NM_001848.3(COL6A1):c.859-1G>C

SNV
Germline

Chr21:45989607

Pathogenic/Likely pathogenic

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA410521712

rs_1556425531

2 SubmittersRCV001069616 RCV000592128

NM_001848.3(COL6A1):c.588+10G>A

SNV
Germline

Chr21:45986695

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA321958779

rs_890926408

2 SubmittersRCV000596918 RCV002061999

NM_001849.4(COL6A2):c.225G>T (p.Pro75=)

SNV
Germline

Chr21:46112088

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10071239

rs_143678454

4 SubmittersRCV000594617 RCV000726508 RCV001439006 RCV004543314

NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter)

SNV
Germline

Chr21:46122881

Pathogenic/Likely pathogenic

Condition: not provided
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10072065

rs_749593004

3 SubmittersRCV000596500 RCV001251126 RCV001382429

NM_004369.4(COL6A3):c.108G>T (p.Ala36=)

SNV
Germline

Chr2:237395188

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA67842579

rs_374055173

2 SubmittersRCV000592733 RCV002530972

NM_001848.3(COL6A1):c.2035C>T (p.Pro679Ser)

SNV
Germline

Chr21:46002039

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070726

rs_756467809

2 SubmittersRCV000595360 RCV001860153

NM_001848.3(COL6A1):c.811C>T (p.Arg271Ter)

SNV
Germline

Chr21:45989090

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA410521397

rs_1391624796

2 SubmittersRCV000591172 RCV001230868

NM_001849.4(COL6A2):c.1762G>A (p.Gly588Ser)

SNV
Germline

Chr21:46124912

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072170

rs_139488626

3 SubmittersRCV000592435 RCV000690561

NM_001848.3(COL6A1):c.381C>T (p.Thr127=)

SNV
Germline

Chr21:45984422

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10069549

rs_75180385

3 SubmittersRCV001081070 RCV000726634

NM_001848.3(COL6A1):c.2694G>A (p.Thr898=)

SNV
Germline

Chr21:46003620

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071002

rs_372931456

2 SubmittersRCV000597984 RCV001088514

NM_001848.3(COL6A1):c.531C>T (p.Asn177=)

SNV
Germline

Chr21:45986628

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069597

rs_767176038

3 SubmittersRCV000596951 RCV001486103

NM_001849.4(COL6A2):c.2879C>T (p.Ser960Leu)

SNV
Germline

Chr21:46132371

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10073073

rs_750097119

4 SubmittersRCV000593505 RCV001139299 RCV001236809 RCV004530660

NM_001848.3(COL6A1):c.2785G>A (p.Glu929Lys)

SNV
Germline

Chr21:46003711

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10071032

rs_145846228

3 SubmittersRCV000702886 RCV000591250 RCV002532379

NM_001849.4(COL6A2):c.2301C>T (p.His767=)

SNV
Germline

Chr21:46126116

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10072509

rs_138371054

4 SubmittersRCV000591158 RCV001088982 RCV004543321

NM_004369.4(COL6A3):c.9198C>T (p.Val3066=)

SNV
Germline

Chr2:237334657

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187334

rs_765101399

3 SubmittersRCV000597679 RCV001138074 RCV002530993

NM_004369.4(COL6A3):c.1080C>T (p.Asp360=)

SNV
Germline

Chr2:237387814

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189714

rs_762463347

3 SubmittersRCV000595007 RCV001440482

NM_004369.4(COL6A3):c.8457C>T (p.Phe2819=)

SNV
Germline

Chr2:237340459

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2187546

rs_138683303

2 SubmittersRCV000653643 RCV000593499

NM_004369.4(COL6A3):c.8639C>T (p.Thr2880Met)

SNV
Germline

Chr2:237336461

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2187480

rs_770436761

3 SubmittersRCV000594579 RCV001234226 RCV004024719

NM_004369.4(COL6A3):c.1006C>T (p.Arg336Trp)

SNV
Germline

Chr2:237387888

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189729

rs_200720222

4 SubmittersRCV000596437 RCV000653542

NM_001849.4(COL6A2):c.139G>A (p.Val47Met)

SNV
Germline

Chr21:46112002

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071219

rs_370171967

4 SubmittersRCV000593689 RCV001215044

NM_004369.4(COL6A3):c.8794C>T (p.Pro2932Ser)

SNV
Germline

Chr2:237336306

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA67830560

rs_992204564

2 SubmittersRCV000592270 RCV001325100

NM_001849.4(COL6A2):c.1427C>A (p.Pro476His)

SNV
Germline

Chr21:46121092

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10071871

rs_200482836

4 SubmittersRCV000597963 RCV001229580 RCV004024727

NM_001848.3(COL6A1):c.2853G>A (p.Thr951=)

SNV
Germline

Chr21:46003779

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA321980261

rs_890068806

2 SubmittersRCV000598463 RCV001086353

NM_001848.3(COL6A1):c.1003-10C>T

SNV
Germline

Chr21:45990763

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070031

rs_182440627

2 SubmittersRCV000593563 RCV001088357

NM_004369.4(COL6A3):c.4491C>T (p.Ala1497=)

SNV
Germline

Chr2:237368972

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188884

rs_558665283

2 SubmittersRCV000593110 RCV001475025

NM_004369.4(COL6A3):c.6799G>A (p.Gly2267Ser)

SNV
Germline

Chr2:237351147

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2188081

rs_749855513

2 SubmittersRCV000594165 RCV000726810

NM_001848.3(COL6A1):c.2044C>T (p.Arg682Trp)

SNV
Germline

Chr21:46002048

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10070729

rs_777378283

3 SubmittersRCV000653545 RCV000597556

NM_001848.3(COL6A1):c.2561G>A (p.Arg854His)

SNV
Germline

Chr21:46003487

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10070958

rs_200732314

3 SubmittersRCV000592335 RCV000795352 RCV002532412

NM_001848.3(COL6A1):c.1837C>A (p.Pro613Thr)

SNV
Germline

Chr21:46001267

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070639

rs_200770631

2 SubmittersRCV000595806 RCV001209850

NM_004369.4(COL6A3):c.5555T>C (p.Phe1852Ser)

SNV
Germline

Chr2:237365981

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2188631

rs_148488423

4 SubmittersRCV000591644 RCV001078890 RCV004024742

NM_004369.4(COL6A3):c.1292C>T (p.Pro431Leu)

SNV
Germline

Chr2:237387602

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189665

rs_144746928

3 SubmittersRCV000597274 RCV000808346

NM_001848.3(COL6A1):c.739-5C>T

SNV
Germline

Chr21:45987494

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069708

rs_369946755

2 SubmittersRCV000596737 RCV001490417

NM_004369.4(COL6A3):c.9345G>A (p.Pro3115=)

SNV
Germline

Chr2:237325708

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187286

rs_748814297

3 SubmittersRCV000598520 RCV001439881

NM_004369.4(COL6A3):c.1572C>T (p.Tyr524=)

SNV
Germline

Chr2:237381240

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189592

rs_115973206

2 SubmittersRCV000594894 RCV001081036

NM_004369.4(COL6A3):c.5148C>T (p.His1716=)

SNV
Germline

Chr2:237367039

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188733

rs_114845780

2 SubmittersRCV000596823 RCV001421658

NM_004369.4(COL6A3):c.2600A>T (p.Asn867Ile)

SNV
Germline

Chr2:237377242

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189364

rs_751459281

2 SubmittersRCV000595402 RCV001367018

NM_001849.4(COL6A2):c.1869C>T (p.Ser623=)

SNV
Germline

Chr21:46125517

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10072316

rs_760704425

3 SubmittersRCV000598427 RCV001458290 RCV004530682

NM_004369.4(COL6A3):c.5403C>T (p.Asn1801=)

SNV
Germline

Chr2:237366784

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188673

rs_114357878

2 SubmittersRCV000595868 RCV001428212

NM_004369.4(COL6A3):c.6045T>C (p.Tyr2015=)

SNV
Germline

Chr2:237363271

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188493

rs_148877230

2 SubmittersRCV000597564 RCV001399239

NM_004369.4(COL6A3):c.1920C>A (p.Ile640=)

SNV
Germline

Chr2:237379213

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA67827141

rs_988504831

2 SubmittersRCV000597176 RCV001498643

NM_001849.4(COL6A2):c.883G>A (p.Gly295Arg)

SNV
Germline

Chr21:46116036

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA410525272

rs_1555872873

2 SubmittersRCV000596159 RCV001379563

NM_001848.3(COL6A1):c.957G>A (p.Lys319=)

SNV
Germline

Chr21:45990284

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA512713111

rs_1057520625

2 SubmittersRCV000594978 RCV001061915

NM_001848.3(COL6A1):c.941G>A (p.Gly314Glu)

SNV
Germline

Chr21:45990268

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA410522485

rs_1556425679

2 SubmittersRCV000593163 RCV001860178

NM_004369.4(COL6A3):c.8393T>C (p.Val2798Ala)

SNV
Germline

Chr2:237340523

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187562

rs_749169391

4 SubmittersRCV000593637 RCV001216322

NM_001849.4(COL6A2):c.2217C>T (p.Asp739=)

SNV
Germline

Chr21:46126032

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072471

rs_374795477

2 SubmittersRCV000596211 RCV002062037

NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val)

SNV
Germline

Chr2:237378827

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Tip-toe gait
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Conflicting Classifications

CA2189430

rs_753966526

5 SubmittersRCV000597561 RCV000653557 RCV002224968 RCV003483687

NM_001849.4(COL6A2):c.2409C>T (p.Asp803=)

SNV
Germline

Chr21:46126224

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072552

rs_745800327

2 SubmittersRCV000597601 RCV001427061

NM_004369.4(COL6A3):c.3831C>T (p.Ser1277=)

SNV
Germline

Chr2:237372186

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189066

rs_114110705

2 SubmittersRCV000595244 RCV002062044

NM_004369.4(COL6A3):c.3187G>A (p.Asp1063Asn)

SNV
Germline

Chr2:237374904

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189224

rs_760543147

2 SubmittersRCV000597773 RCV001206779

NM_004369.4(COL6A3):c.7879G>A (p.Ala2627Thr)

SNV
Germline

Chr2:237341037

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187669

rs_776220123

3 SubmittersRCV000591870 RCV001217460

NM_001848.3(COL6A1):c.2848G>A (p.Ala950Thr)

SNV
Germline

Chr21:46003774

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071050

rs_771844518

3 SubmittersRCV000592371 RCV001294288

NM_001849.4(COL6A2):c.411G>A (p.Ala137=)

SNV
Germline

Chr21:46112274

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA10071285

rs_528885146

3 SubmittersRCV000593120 RCV001443506 RCV001143205

NM_004369.4(COL6A3):c.1022G>T (p.Arg341Leu)

SNV
Germline

Chr2:237387872

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA351222413

rs_140510298

2 SubmittersRCV000591218 RCV003631135

NM_001849.4(COL6A2):c.1000-1G>T

SNV
Germline

Chr21:46117399

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA410527297

rs_1555873358

2 SubmittersRCV000591425 RCV001378598

NM_001848.3(COL6A1):c.2592G>A (p.Arg864=)

SNV
Germline

Chr21:46003518

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070968

rs_766279884

2 SubmittersRCV000593325 RCV001417168

NM_004369.4(COL6A3):c.7376G>A (p.Arg2459Gln)

SNV
Germline

Chr2:237344642

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187813

rs_777496872

3 SubmittersRCV000598360 RCV000806184

NM_004369.4(COL6A3):c.9457G>C (p.Gly3153Arg)

SNV
Germline

Chr2:237325596

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187269

rs_769392747

2 SubmittersRCV000595045 RCV001070813

NM_004369.4(COL6A3):c.7702C>T (p.Leu2568=)

SNV
Germline

Chr2:237342128

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187724

rs_201479636

3 SubmittersRCV000597332 RCV000727105 RCV001514420

NM_004369.4(COL6A3):c.285G>A (p.Thr95=)

SNV
Germline

Chr2:237395011

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189898

rs_373435541

4 SubmittersRCV000595051 RCV001137216 RCV001472769

NM_001848.3(COL6A1):c.366C>T (p.Tyr122=)

SNV
Germline

Chr21:45984407

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069547

rs_770744511

2 SubmittersRCV000597635 RCV002532498

NM_001848.3(COL6A1):c.593C>T (p.Pro198Leu)

SNV
Germline

Chr21:45986948

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069629

rs_199867193

4 SubmittersRCV000596884 RCV001303771

NM_004369.4(COL6A3):c.9043C>T (p.Pro3015Ser)

SNV
Germline

Chr2:237334812

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187374

rs_529079748

2 SubmittersRCV000593008 RCV001860189

NM_004369.4(COL6A3):c.8924C>T (p.Ala2975Val)

SNV
Germline

Chr2:237336176

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187412

rs_557120711

3 SubmittersRCV000596369 RCV001234893

NM_001848.3(COL6A1):c.2752G>A (p.Asp918Asn)

SNV
Germline

Chr21:46003678

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA10071022

rs_750512162

4 SubmittersRCV000598521 RCV001070212 RCV001141144

NM_001848.3(COL6A1):c.2863A>G (p.Ile955Val)

SNV
Germline

Chr21:46003789

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10071055

rs_373070436

3 SubmittersRCV000695955 RCV000593078

NM_004369.4(COL6A3):c.8377G>A (p.Val2793Ile)

SNV
Germline

Chr2:237340539

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187566

rs_569907876

4 SubmittersRCV000594529 RCV001057134

NM_004369.4(COL6A3):c.8436C>T (p.Phe2812=)

SNV
Germline

Chr2:237340480

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187549

rs_571287679

2 SubmittersRCV000597108 RCV001087482

NM_001848.3(COL6A1):c.2585C>T (p.Ala862Val)

SNV
Germline

Chr21:46003511

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10070965

rs_766944483

3 SubmittersRCV000597267 RCV001867969 RCV003160038

NM_001848.3(COL6A1):c.1554C>T (p.Thr518=)

SNV
Germline

Chr21:45998150

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA512717389

rs_9637170

2 SubmittersRCV000593118 RCV001415677

NM_004369.4(COL6A3):c.2808C>T (p.Ile936=)

SNV
Germline

Chr2:237377034

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189319

rs_116256579

2 SubmittersRCV000596982 RCV001429142

NM_001848.3(COL6A1):c.2435-2A>G

SNV
Germline

Chr21:46003118

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA321979770

rs_940473416

3 SubmittersRCV000595820 RCV003631136

NM_001849.4(COL6A2):c.948T>C (p.Gly316=)

SNV
Germline

Chr21:46116671

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071564

rs_764665426

2 SubmittersRCV000591413 RCV001453350

NM_001848.3(COL6A1):c.789C>T (p.Gly263=)

SNV
Germline

Chr21:45987639

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10069752

rs_148364156

3 SubmittersRCV000594154 RCV001235823 RCV004024795

NM_001848.3(COL6A1):c.628C>T (p.Arg210Trp)

SNV
Germline

Chr21:45986983

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA321959196

rs_950115468

3 SubmittersRCV000596888 RCV003631138

NM_004369.4(COL6A3):c.7342G>T (p.Val2448Phe)

SNV
Germline

Chr2:237344676

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187822

rs_768564642

2 SubmittersRCV000593099 RCV001480435

NM_004369.4(COL6A3):c.4366C>T (p.Arg1456Ter)

SNV
Germline

Chr2:237369097

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA2188910

rs_781043870

2 SubmittersRCV000597281 RCV001854073

NM_004369.4(COL6A3):c.1898-5T>C

SNV
Germline

Chr2:237379240

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189516

rs_373563217

3 SubmittersRCV000598458 RCV001501789

NM_004369.4(COL6A3):c.2350G>A (p.Ala784Thr)

SNV
Germline

Chr2:237378783

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189423

rs_765006452

2 SubmittersRCV000597915 RCV001243630

NM_004369.4(COL6A3):c.2029C>T (p.Arg677Cys)

SNV
Germline

Chr2:237379104

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2189493

rs_137923508

5 SubmittersRCV000595749 RCV000687632 RCV004553335

NM_001849.4(COL6A2):c.900+1G>A

SNV
Germline

Chr21:46116054

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA410525419

rs_886044261

2 SubmittersRCV000591515 RCV001046089

NM_004369.4(COL6A3):c.550G>A (p.Ala184Thr)

SNV
Germline

Chr2:237394746

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189842

rs_767499336

3 SubmittersRCV000598246 RCV000806334 RCV002531079

NM_004369.4(COL6A3):c.6639C>T (p.Gly2213=)

SNV
Germline

Chr2:237353392

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188149

rs_765837100

2 SubmittersRCV000595042 RCV001078973

NM_001849.4(COL6A2):c.2058C>T (p.Ser686=)

SNV
Germline

Chr21:46125873

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072429

rs_370558215

2 SubmittersRCV000592598 RCV001500171

NM_004369.4(COL6A3):c.6957A>G (p.Pro2319=)

SNV
Germline

Chr2:237348358

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188000

rs_777752945

2 SubmittersRCV000594327 RCV001447513

NM_004369.4(COL6A3):c.3630C>T (p.Arg1210=)

SNV
Germline

Chr2:237374461

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189129

rs_757349824

2 SubmittersRCV000595052 RCV002065174

NM_001848.3(COL6A1):c.930+10G>A

SNV
Germline

Chr21:45989788

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069876

rs_772379034

2 SubmittersRCV000596131 RCV003517237

NM_004369.4(COL6A3):c.839G>T (p.Arg280Leu)

SNV
Germline

Chr2:237388055

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189766

rs_370246962

5 SubmittersRCV000593811 RCV001141967 RCV003631139

NM_004369.4(COL6A3):c.467A>C (p.Asp156Ala)

SNV
Germline

Chr2:237394829

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189858

rs_150972216

2 SubmittersRCV000596560 RCV001342429

NM_004369.4(COL6A3):c.4900+10G>A

SNV
Germline

Chr2:237368553

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188784

rs_189411873

2 SubmittersRCV000597709 RCV001432755

NM_001849.4(COL6A2):c.2410G>A (p.Val804Ile)

SNV
Germline

Chr21:46126225

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10072553

rs_199896699

4 SubmittersRCV000595928 RCV000653574 RCV002531095 RCV004530714

NM_004369.4(COL6A3):c.4663G>A (p.Asp1555Asn)

SNV
Germline

Chr2:237368800

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188847

rs_763162762

2 SubmittersRCV000591152 RCV001419741

NM_001849.4(COL6A2):c.2595G>A (p.Leu865=)

SNV
Germline

Chr21:46132087

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA513170732

rs_1474756520

2 SubmittersRCV000592712 RCV002062094

NM_001849.4(COL6A2):c.2490G>A (p.Arg830=)

SNV
Germline

Chr21:46131982

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072905

rs_748047522

3 SubmittersRCV000591728 RCV001089197

NM_001849.4(COL6A2):c.2781C>T (p.Ala927=)

SNV
Germline

Chr21:46132273

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10073020

rs_776437060

2 SubmittersRCV000595087 RCV003517238

NM_001849.4(COL6A2):c.1410G>A (p.Leu470=)

SNV
Germline

Chr21:46121075

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA321967086

rs_145012001

2 SubmittersRCV000598494 RCV002532651

NM_001848.3(COL6A1):c.1566C>T (p.Pro522=)

SNV
Germline

Chr21:45998162

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070399

rs_753063150

2 SubmittersRCV000593485 RCV001088996

NM_004369.4(COL6A3):c.8846C>T (p.Pro2949Leu)

SNV
Germline

Chr2:237336254

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187433

rs_376021820

2 SubmittersRCV000598205 RCV000804675

NM_004369.4(COL6A3):c.4271G>A (p.Arg1424His)

SNV
Germline

Chr2:237371746

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188959

rs_149838946

3 SubmittersRCV000596949 RCV000791572

NM_004369.4(COL6A3):c.3894G>A (p.Ala1298=)

SNV
Germline

Chr2:237372123

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189051

rs_777277026

2 SubmittersRCV000592283 RCV001504671

NM_001849.4(COL6A2):c.2196C>T (p.Asp732=)

SNV
Germline

Chr21:46126011

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072464

rs_188508745

2 SubmittersRCV000594964 RCV002062099

NM_004369.4(COL6A3):c.1971T>C (p.Tyr657=)

SNV
Germline

Chr2:237379162

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA67827082

rs_970623100

2 SubmittersRCV000593481 RCV003631141

NM_004369.4(COL6A3):c.7446C>G (p.Ser2482=)

SNV
Germline

Chr2:237344572

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA431710520

rs_1439207088

2 SubmittersRCV000653658 RCV000595796

NM_001848.3(COL6A1):c.1741-6G>A

SNV
Germline

Chr21:45999651

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Conflicting Classifications

CA10070532

rs_200334019

3 SubmittersRCV000592845 RCV001089428 RCV003126841

NM_004369.4(COL6A3):c.2994G>A (p.Ser998=)

SNV
Germline

Chr2:237376848

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2189274

rs_768233315

4 SubmittersRCV000610463 RCV000728968 RCV001086137 RCV004547733

NM_004369.4(COL6A3):c.543T>C (p.Asp181=)

SNV
Germline

Chr2:237394753

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA67841889

rs_898779231

4 SubmittersRCV000614414 RCV000730052 RCV001428235

NM_001848.3(COL6A1):c.2601C>T (p.Pro867=)

SNV
Germline

Chr21:46003527

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070974

rs_200124802

3 SubmittersRCV000730862 RCV001079481

NM_001848.3(COL6A1):c.2187C>T (p.Asp729=)

SNV
Germline

Chr21:46002338

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070786

rs_369502543

3 SubmittersRCV000606463 RCV000728993 RCV001078737

NM_001849.4(COL6A2):c.2422+7G>A

SNV
Germline

Chr21:46126244

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072560

rs_773282809

3 SubmittersRCV000603475 RCV000730477 RCV002064339

NM_001848.3(COL6A1):c.1119+13C>T

SNV
Germline

Chr21:45991054

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070089

rs_199655304

3 SubmittersRCV000613196 RCV001142673 RCV003117380

NM_001848.3(COL6A1):c.2670G>A (p.Ser890=)

SNV
Germline

Chr21:46003596

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070999

rs_527265374

3 SubmittersRCV000601071 RCV000730975 RCV001478676

NM_004369.4(COL6A3):c.6238G>C (p.Gly2080Arg)

SNV
Germline

Chr2:237360132

Pathogenic/Likely pathogenic

Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA351216634

rs_1553553625

2 SubmittersRCV000623881 RCV001860425

NM_001848.3(COL6A1):c.824G>T (p.Gly275Val)

SNV
Germline

Chr21:45989103

Pathogenic/Likely pathogenic

Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA410521483

rs_1556425468

2 SubmittersRCV000624350 RCV000689918

NM_001848.3(COL6A1):c.2200A>G (p.Thr734Ala)

SNV
Germline

Chr21:46002351

Conflicting classifications of pathogenicity

Inborn genetic diseases
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10070790

rs_562898957

6 SubmittersRCV000624130 RCV000705701 RCV000733720

NM_001849.4(COL6A2):c.902G>A (p.Gly301Asp)

SNV
Germline

Chr21:46116378

Pathogenic

Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA410525581

rs_1555872965

2 SubmittersRCV000624324 RCV002532835

NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser)

SNV
Germline

Chr6:75137543

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases
Ullrich congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3893172

rs_755536829

4 SubmittersRCV000625794 RCV000652902 RCV002533144 RCV003162766

NM_004370.6(COL12A1):c.1760T>C (p.Ile587Thr)

SNV
Germline

Chr6:75183181

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

CA364768673

rs_1235556906

2 SubmittersRCV000625896 RCV003767834

NM_004369.4(COL6A3):c.6422C>A (p.Pro2141His)

SNV
Germline

Chr2:237358570

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2188290

rs_369169235

4 SubmittersRCV000653587 RCV003144453 RCV003163007

NM_004369.4(COL6A3):c.3274G>A (p.Val1092Ile)

SNV
Germline

Chr2:237374817

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189202

rs_576798969

3 SubmittersRCV000653588 RCV003144454 RCV004025911

NM_004369.4(COL6A3):c.3932A>G (p.Asn1311Ser)

SNV
Germline

Chr2:237372085

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA2189041

rs_200592625

4 SubmittersRCV000653502 RCV000730640 RCV001139020

NM_004369.4(COL6A3):c.1620A>G (p.Ser540=)

SNV
Germline

Chr2:237381192

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2189579

rs_200205650

2 SubmittersRCV000653681 RCV000730259

NM_004369.4(COL6A3):c.6372T>C (p.Pro2124=)

SNV
Germline

Chr2:237359071

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA67852996

rs_894679602

2 SubmittersRCV001088916 RCV000733876

NM_004369.4(COL6A3):c.5690C>T (p.Pro1897Leu)

SNV
Germline

Chr2:237365846

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2188604

rs_370806359

4 SubmittersRCV000653513 RCV003144450 RCV002536303

NM_004370.6(COL12A1):c.7690C>T (p.Pro2564Ser)

SNV
Germline

Chr6:75115791

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3892499

rs_199724285

3 SubmittersRCV000652929 RCV001775942

NM_004370.6(COL12A1):c.5587C>T (p.Arg1863Cys)

SNV
Germline

Chr6:75133935

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3893080

rs_201372309

2 SubmittersRCV000652912 RCV001592828

NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu)

SNV
Germline

Chr6:75143335

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3893356

rs_200520924

4 SubmittersRCV000652923 RCV002282293

NM_004370.6(COL12A1):c.8686-5A>T

SNV
Germline

Chr6:75091394

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3892144

rs_749754621

2 SubmittersRCV000652946 RCV001788311

NM_004370.6(COL12A1):c.8420G>A (p.Arg2807His)

SNV
Germline

Chr6:75102048

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3892269

rs_186328815

4 SubmittersRCV000652941 RCV002251492 RCV002534187

NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala)

SNV
Germline

Chr6:75123354

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

CA3892699

rs_55997127

6 SubmittersRCV000652920 RCV002307578 RCV003389058

NM_004370.6(COL12A1):c.3245C>G (p.Thr1082Arg)

SNV
Germline

Chr6:75156262

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3893781

rs_762817385

2 SubmittersRCV000652917 RCV001584508

NM_004370.6(COL12A1):c.6752G>A (p.Arg2251His)

SNV
Germline

Chr6:75124067

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

CA3892729

rs_151324784

4 SubmittersRCV000652952 RCV001079350

NM_004370.6(COL12A1):c.1988A>G (p.His663Arg)

SNV
Germline

Chr6:75181115

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3894086

rs_764241362

3 SubmittersRCV000652908 RCV002466556

NM_004370.6(COL12A1):c.2006C>T (p.Ala669Val)

SNV
Germline

Chr6:75181097

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3894083

rs_201657576

2 SubmittersRCV000652921 RCV001548358

NM_004370.6(COL12A1):c.292G>A (p.Asp98Asn)

SNV
Germline

Chr6:75192254

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3894475

rs_558571598

2 SubmittersRCV000652910 RCV002534186

NM_001848.3(COL6A1):c.624G>A (p.Thr208=)

SNV
Germline

Chr21:45986979

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10069637

rs_573282005

2 SubmittersRCV001493896 RCV000733315

NM_001848.3(COL6A1):c.2852C>T (p.Thr951Met)

SNV
Germline

Chr21:46003778

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10071051

rs_371111712

2 SubmittersRCV000653518 RCV003128682

NM_001849.4(COL6A2):c.1138C>T (p.Arg380Cys)

SNV
Germline

Chr21:46118635

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10071717

rs_142880107

2 SubmittersRCV000653532 RCV001584511

NM_001848.3(COL6A1):c.609C>T (p.Ile203=)

SNV
Germline

Chr21:45986964

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069634

rs_369590506

2 SubmittersRCV000731455 RCV002060777

NM_001848.3(COL6A1):c.621C>A (p.His207Gln)

SNV
Germline

Chr21:45986976

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA321959178

rs_866987981

2 SubmittersRCV000653594 RCV002534201

NM_001848.3(COL6A1):c.1056+5G>A

SNV
Germline

Chr21:45990831

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA645606014

rs_886044511

2 SubmittersRCV000653531

NM_001849.4(COL6A2):c.2997G>A (p.Glu999=)

SNV
Germline

Chr21:46132489

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10073132

rs_751494076

2 SubmittersRCV000653659 RCV000728765

NM_001849.4(COL6A2):c.698G>A (p.Arg233His)

SNV
Germline

Chr21:46112561

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10071377

rs_146742517

2 SubmittersRCV000653581 RCV001771906

NM_001848.3(COL6A1):c.554A>G (p.Lys185Arg)

SNV
Germline

Chr21:45986651

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10069602

rs_754667407

3 SubmittersRCV000653593 RCV002534200 RCV003144455

NM_001848.3(COL6A1):c.930+189C>T

SNV
Germline

Chr21:45989967

Pathogenic

Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA658799468

rs_1556425596

9 SubmittersRCV000653589 RCV001334958 RCV000728981

NM_001848.3(COL6A1):c.1681G>A (p.Asp561Asn)

SNV
Germline

Chr21:45999159

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10070492

rs_140517685

2 SubmittersRCV000653560 RCV003144451

NM_001849.4(COL6A2):c.116-6C>T

SNV
Germline

Chr21:46111973

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10071210

rs_761805565

3 SubmittersRCV000653610 RCV003442004 RCV004544906

NM_001849.4(COL6A2):c.1944C>T (p.Ile648=)

SNV
Germline

Chr21:46125592

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10072339

rs_148178994

3 SubmittersRCV000733408 RCV001087191 RCV004544907

NM_001848.3(COL6A1):c.905G>A (p.Gly302Glu)

SNV
Germline

Chr21:45989753

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410522282

rs_1556425566

1 SubmittersRCV000653570

NM_001848.3(COL6A1):c.958-2A>G

SNV
Germline

Chr21:45990376

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410522581

rs_1556425717

1 SubmittersRCV000653577

NM_001849.4(COL6A2):c.1792G>A (p.Val598Met)

SNV
Germline

Chr21:46125287

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10072217

rs_149731632

2 SubmittersRCV000653503 RCV003144449

NM_001849.4(COL6A2):c.2584C>T (p.Arg862Trp)

SNV
Germline

Chr21:46132076

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10072936

rs_777822883

2 SubmittersRCV000653584 RCV003144452

NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val)

SNV
Germline

Chr6:75180995

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy
Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
COL12A1-related disorder

Criteria Provided
Conflicting Classifications

rs_1013873051

4 SubmittersRCV000661958 RCV000661959 RCV000691825 RCV003144462 RCV003411568

NM_004369.4(COL6A3):c.8416G>A (p.Glu2806Lys)

SNV
Germline

Chr2:237340500

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_775200499

2 SubmittersRCV000693375 RCV003140098

NM_004369.4(COL6A3):c.7192G>A (p.Val2398Ile)

SNV
Germline

Chr2:237344826

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

rs_375640580

4 SubmittersRCV000707735 RCV001759424 RCV004547879

NM_004369.4(COL6A3):c.4145C>T (p.Ser1382Leu)

SNV
Germline

Chr2:237371872

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_767829363

2 SubmittersRCV000688716 RCV003144497

NM_004369.4(COL6A3):c.3700G>A (p.Val1234Met)

SNV
Germline

Chr2:237372317

Conflicting classifications of pathogenicity

Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_747082651

2 SubmittersRCV000705347

NM_004369.4(COL6A3):c.3556G>A (p.Val1186Met)

SNV
Germline

Chr2:237374535

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_144976132

4 SubmittersRCV000698564 RCV001766518

NM_004369.4(COL6A3):c.2666G>A (p.Arg889His)

SNV
Germline

Chr2:237377176

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_111295967

2 SubmittersRCV000698743 RCV003144545

NM_004369.4(COL6A3):c.9059A>G (p.Tyr3020Cys)

SNV
Germline

Chr2:237334796

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_371006546

3 SubmittersRCV000697161 RCV000730466

NM_004369.4(COL6A3):c.6902T>C (p.Val2301Ala)

SNV
Germline

Chr2:237348641

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_111927395

2 SubmittersRCV000702168 RCV000730162

NM_004369.4(COL6A3):c.6310-2A>G

SNV
Germline

Chr2:237359252

Pathogenic/Likely pathogenic

Bethlem myopathy 1A
Condition: not provided
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1559225993

3 SubmittersRCV000692116 RCV001784315 RCV003338733

NM_004369.4(COL6A3):c.6130G>A (p.Gly2044Arg)

SNV
Germline

Chr2:237361765

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1559229322

2 SubmittersRCV000687338 RCV003144491

NM_004369.4(COL6A3):c.3271G>A (p.Val1091Ile)

SNV
Germline

Chr2:237374820

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_373915980

2 SubmittersRCV000690462 RCV003144505

NM_004369.4(COL6A3):c.2845G>A (p.Ala949Thr)

SNV
Germline

Chr2:237376997

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

rs_374960915

4 SubmittersRCV000690454 RCV000730557 RCV001141741

NM_004369.4(COL6A3):c.1897+1G>T

SNV
Germline

Chr2:237380914

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_1230578718

1 SubmittersRCV000685452

NM_004370.6(COL12A1):c.8831C>T (p.Pro2944Leu)

SNV
Germline

Chr6:75090220

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

rs_199702595

5 SubmittersRCV000690090 RCV000998647 RCV001771945

NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val)

SNV
Germline

Chr6:75097282

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_369104842

4 SubmittersRCV000690474 RCV003144506

NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His)

SNV
Germline

Chr6:75102676

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_190917891

4 SubmittersRCV000702920 RCV003144560

NM_004370.6(COL12A1):c.6919C>T (p.Pro2307Ser)

SNV
Germline

Chr6:75123357

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

rs_758186176

2 SubmittersRCV000704037

NM_004370.6(COL12A1):c.5615G>A (p.Arg1872His)

SNV
Germline

Chr6:75133907

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_770194625

3 SubmittersRCV000705454 RCV001797135

NM_004370.6(COL12A1):c.3835+4A>G

SNV
Germline

Chr6:75152127

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_187358458

5 SubmittersRCV000697688 RCV000998650

NM_004370.6(COL12A1):c.2314C>T (p.Pro772Ser)

SNV
Germline

Chr6:75177786

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
not specified

Criteria Provided
Conflicting Classifications

rs_370256196

2 SubmittersRCV000686039 RCV001193906

NM_004370.6(COL12A1):c.1471G>C (p.Glu491Gln)

SNV
Germline

Chr6:75183470

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
not specified

Criteria Provided
Conflicting Classifications

rs_367630003

5 SubmittersRCV001592886 RCV000695719 RCV002271569

NM_004370.6(COL12A1):c.8495C>G (p.Pro2832Arg)

SNV
Germline

Chr6:75101628

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_779184954

2 SubmittersRCV000696972 RCV003144536

NM_004370.6(COL12A1):c.4052A>G (p.Asp1351Gly)

SNV
Germline

Chr6:75151236

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1295465247

2 SubmittersRCV000698027 RCV001766513

NM_004370.6(COL12A1):c.3670C>T (p.Arg1224Cys)

SNV
Germline

Chr6:75152378

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_748277540

2 SubmittersRCV000700949 RCV004026535

NM_004370.6(COL12A1):c.2374G>A (p.Val792Ile)

SNV
Germline

Chr6:75177726

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_375704787

2 SubmittersRCV000695513 RCV004025247

NM_004370.6(COL12A1):c.1186G>A (p.Ala396Thr)

SNV
Germline

Chr6:75183956

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_202175607

3 SubmittersRCV000694923 RCV001331209 RCV001556084

NM_004370.6(COL12A1):c.395-2A>C

SNV
Germline

Chr6:75189817

Likely pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

rs_1562310723

1 SubmittersRCV000703266

NM_004369.4(COL6A3):c.6452T>C (p.Val2151Ala)

SNV
Germline

Chr2:237358540

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_540633944

3 SubmittersRCV000690908 RCV001531518

NM_004369.4(COL6A3):c.6309+1G>A

SNV
Germline

Chr2:237359361

Pathogenic

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_886043919

2 SubmittersRCV000705191 RCV001093259

NM_004369.4(COL6A3):c.6263C>T (p.Pro2088Leu)

SNV
Germline

Chr2:237360107

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Collagen 6-related myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_113896755

3 SubmittersRCV000701239 RCV001136579 RCV003489825

NM_004369.4(COL6A3):c.5678C>T (p.Thr1893Met)

SNV
Germline

Chr2:237365858

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_143389941

2 SubmittersRCV000696126 RCV004026369

NM_004369.4(COL6A3):c.5180G>A (p.Arg1727Gln)

SNV
Germline

Chr2:237367007

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_760717002

2 SubmittersRCV000703610 RCV000729520

NM_004369.4(COL6A3):c.2729C>T (p.Thr910Met)

SNV
Germline

Chr2:237377113

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
not specified
Condition: not provided
Inborn genetic diseases
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

rs_189356869

6 SubmittersRCV000696514 RCV000785110 RCV002289973 RCV002533454 RCV004547861

NM_004369.4(COL6A3):c.2195C>T (p.Thr732Met)

SNV
Germline

Chr2:237378938

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Collagen 6-related myopathy
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

rs_370719148

5 SubmittersRCV000694691 RCV001546077 RCV001136989 RCV004547860

NM_004369.4(COL6A3):c.1699C>T (p.Gln567Ter)

SNV
Germline

Chr2:237381113

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_1559261557

1 SubmittersRCV000689961

NM_004370.6(COL12A1):c.9187G>A (p.Gly3063Ser)

SNV
Germline

Chr6:75086552

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_746453262

4 SubmittersRCV000686747 RCV003144486 RCV003278989

NM_004370.6(COL12A1):c.9076C>G (p.Pro3026Ala)

SNV
Germline

Chr6:75087682

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_376189614

2 SubmittersRCV000704645 RCV004026667

NM_004370.6(COL12A1):c.7541A>G (p.Asp2514Gly)

SNV
Germline

Chr6:75116036

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_202109365

3 SubmittersRCV000689507 RCV000998648

NM_004370.6(COL12A1):c.5230+1G>A

SNV
Germline

Chr6:75138447

Likely pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1274606112

3 SubmittersRCV000701069 RCV003228982

NM_004370.6(COL12A1):c.4445T>C (p.Ile1482Thr)

SNV
Germline

Chr6:75146217

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_760640025

2 SubmittersRCV000705382 RCV003144565

NM_004370.6(COL12A1):c.3650C>A (p.Thr1217Asn)

SNV
Germline

Chr6:75152398

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1436778165

2 SubmittersRCV000701151 RCV003144555

NM_004370.6(COL12A1):c.2588G>A (p.Gly863Glu)

SNV
Germline

Chr6:75175160

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Inborn genetic diseases
COL12A1-related disorder

Criteria Provided
Conflicting Classifications

rs_370388701

5 SubmittersRCV000685010 RCV001574909 RCV002532197 RCV003420211

NM_004370.6(COL12A1):c.2569C>G (p.Gln857Glu)

SNV
Germline

Chr6:75175179

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201662983

4 SubmittersRCV000704914 RCV001759413 RCV004026673

NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn)

SNV
Germline

Chr6:75152184

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_370339027

5 SubmittersRCV000694591 RCV001312075 RCV003338735

NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr)

SNV
Germline

Chr6:75165522

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Ullrich congenital muscular dystrophy
Bethlem myopathy 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201996851

4 SubmittersRCV000706135 RCV002508944 RCV002534455 RCV003144567

NM_004370.6(COL12A1):c.2714G>A (p.Arg905His)

SNV
Germline

Chr6:75165776

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_369193482

4 SubmittersRCV000703971 RCV002305531

NM_004370.6(COL12A1):c.922A>T (p.Ile308Phe)

SNV
Germline

Chr6:75188437

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_116980451

5 SubmittersRCV000686474 RCV001584554

NM_001848.3(COL6A1):c.1576-1G>A

SNV
Germline

Chr21:45998397

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_112814811

1 SubmittersRCV000699822

NM_001849.4(COL6A2):c.623C>T (p.Pro208Leu)

SNV
Germline

Chr21:46112486

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_559666084

3 SubmittersRCV000704553 RCV000733182

NM_001849.4(COL6A2):c.839G>A (p.Gly280Asp)

SNV
Germline

Chr21:46115909

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_1568928804

1 SubmittersRCV000691353

NM_001849.4(COL6A2):c.3026G>T (p.Gly1009Val)

SNV
Germline

Chr21:46132518

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1157175258

2 SubmittersRCV000687061 RCV002544767

NM_001848.3(COL6A1):c.1823-1G>T

SNV
Germline

Chr21:46001252

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_1569519030

1 SubmittersRCV000689145

NM_001848.3(COL6A1):c.2768T>G (p.Val923Gly)

SNV
Germline

Chr21:46003694

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_755340450

2 SubmittersRCV000696964 RCV003140105

NM_001848.3(COL6A1):c.2950C>T (p.Arg984Cys)

SNV
Germline

Chr21:46003876

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_568039462

2 SubmittersRCV000686999 RCV003140082

NM_001849.4(COL6A2):c.1294A>T (p.Lys432Ter)

SNV
Germline

Chr21:46119812

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_752730608

1 SubmittersRCV000692014

NM_001848.3(COL6A1):c.331G>A (p.Asp111Asn)

SNV
Germline

Chr21:45984372

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1309822720

3 SubmittersRCV000692099 RCV002531441 RCV003144515

NM_001848.3(COL6A1):c.344G>A (p.Ser115Asn)

SNV
Germline

Chr21:45984385

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_372627181

2 SubmittersRCV000699825 RCV001531973

NM_001848.3(COL6A1):c.3041G>A (p.Arg1014His)

SNV
Germline

Chr21:46003967

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_369764291

2 SubmittersRCV000705525 RCV003140119

NM_001849.4(COL6A2):c.1111G>A (p.Gly371Ser)

SNV
Germline

Chr21:46117931

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_768542626

3 SubmittersRCV000689566 RCV001334959 RCV002477546

NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter)

SNV
Germline

Chr21:46121067

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Ullrich congenital muscular dystrophy 1B

Criteria Provided
Conflicting Classifications

rs_374669775

4 SubmittersRCV000685322 RCV001311585 RCV003989581

NM_001848.3(COL6A1):c.680C>T (p.Ala227Val)

SNV
Germline

Chr21:45987035

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_770597799

2 SubmittersRCV000706181 RCV000710886

NM_001848.3(COL6A1):c.788G>T (p.Gly263Val)

SNV
Germline

Chr21:45987638

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_886043351

1 SubmittersRCV000691514

NM_001848.3(COL6A1):c.814G>C (p.Gly272Arg)

SNV
Germline

Chr21:45989093

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_398123640

1 SubmittersRCV000705919

NM_001848.3(COL6A1):c.1231G>A (p.Asp411Asn)

SNV
Germline

Chr21:45992212

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_575394639

4 SubmittersRCV000693778 RCV000732621

NM_001848.3(COL6A1):c.1398+2T>G

SNV
Germline

Chr21:45994231

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_1569518481

1 SubmittersRCV000707351

NM_001849.4(COL6A2):c.544G>A (p.Glu182Lys)

SNV
Germline

Chr21:46112407

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_374504636

2 SubmittersRCV000695563 RCV003144530

NM_001849.4(COL6A2):c.2153G>A (p.Ser718Asn)

SNV
Germline

Chr21:46125968

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_368641951

5 SubmittersRCV000703514 RCV003144563 RCV004026631

NM_001849.4(COL6A2):c.2804G>A (p.Gly935Glu)

SNV
Germline

Chr21:46132296

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_780505425

2 SubmittersRCV000687395 RCV003144492

NM_001849.4(COL6A2):c.2883G>A (p.Ala961=)

SNV
Germline

Chr21:46132375

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_369756029

2 SubmittersRCV000727582 RCV001392673

NM_004369.4(COL6A3):c.4066G>A (p.Ala1356Thr)

SNV
Germline

Chr2:237371951

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_143459232

2 SubmittersRCV000727632 RCV001868924

NM_001848.3(COL6A1):c.2797G>A (p.Gly933Ser)

SNV
Germline

Chr21:46003723

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201835072

6 SubmittersRCV000727644 RCV001304517 RCV002533079

NM_001848.3(COL6A1):c.1461+7C>T

SNV
Germline

Chr21:45997490

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_994516309

2 SubmittersRCV000727755 RCV001479984

NM_001849.4(COL6A2):c.3024C>T (p.Pro1008=)

SNV
Germline

Chr21:46132516

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_201635208

2 SubmittersRCV000728002 RCV001401856

NM_001848.3(COL6A1):c.519G>A (p.Glu173=)

SNV
Germline

Chr21:45986616

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_146071423

2 SubmittersRCV000728003 RCV001460393

NM_001848.3(COL6A1):c.2465-7C>T

SNV
Germline

Chr21:46003384

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_376196793

2 SubmittersRCV000728159 RCV001422501

NM_004369.4(COL6A3):c.4197C>A (p.Ser1399Arg)

SNV
Germline

Chr2:237371820

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_755091615

2 SubmittersRCV000728176 RCV001868928

NM_004369.4(COL6A3):c.2145G>T (p.Ser715=)

SNV
Germline

Chr2:237378988

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_375924639

2 SubmittersRCV000728219 RCV002067083

NM_001848.3(COL6A1):c.1611+8C>T

SNV
Germline

Chr21:45998441

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_376055208

2 SubmittersRCV000728226 RCV001087993

NM_001848.3(COL6A1):c.2190G>A (p.Gly730=)

SNV
Germline

Chr21:46002341

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_777828224

2 SubmittersRCV000728681 RCV002535083

NM_004369.4(COL6A3):c.9230-4A>G

SNV
Germline

Chr2:237333552

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_1559190144

2 SubmittersRCV000728763 RCV002536416

NM_004369.4(COL6A3):c.6159T>C (p.Gly2053=)

SNV
Germline

Chr2:237361172

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_1172901266

2 SubmittersRCV000728841 RCV001468795

NM_004369.4(COL6A3):c.4155C>T (p.Pro1385=)

SNV
Germline

Chr2:237371862

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_761804539

2 SubmittersRCV000729151 RCV001411344

NM_001848.3(COL6A1):c.429-8C>T

SNV
Germline

Chr21:45986518

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A1-related disorder

Criteria Provided
Conflicting Classifications

rs_768951384

3 SubmittersRCV000729301 RCV002067093 RCV004535820

NM_001849.4(COL6A2):c.2293G>A (p.Glu765Lys)

SNV
Germline

Chr21:46126108

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_369344885

4 SubmittersRCV000729358 RCV000800070

NM_001848.3(COL6A1):c.2643G>A (p.Thr881=)

SNV
Germline

Chr21:46003569

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_372725624

3 SubmittersRCV000729508 RCV001487596

NM_001848.3(COL6A1):c.795C>T (p.Pro265=)

SNV
Germline

Chr21:45987645

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_370641081

2 SubmittersRCV000729635 RCV003631154

NM_001849.4(COL6A2):c.123C>T (p.Thr41=)

SNV
Germline

Chr21:46111986

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_766840536

2 SubmittersRCV000729693 RCV001500123

NM_004369.4(COL6A3):c.2613G>A (p.Glu871=)

SNV
Germline

Chr2:237377229

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_1559255553

2 SubmittersRCV000729829 RCV002067100

NM_004369.4(COL6A3):c.6966+10C>G

SNV
Germline

Chr2:237348339

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_995436631

2 SubmittersRCV000729931 RCV001443396

NM_004369.4(COL6A3):c.1066G>A (p.Gly356Arg)

SNV
Germline

Chr2:237387828

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_200795795

3 SubmittersRCV000730004 RCV002535138

NM_004369.4(COL6A3):c.2730G>A (p.Thr910=)

SNV
Germline

Chr2:237377112

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_367991818

2 SubmittersRCV000730257 RCV001088906

NM_001848.3(COL6A1):c.2920G>A (p.Val974Met)

SNV
Germline

Chr21:46003846

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_751999785

3 SubmittersRCV000730363 RCV000804211

NM_001848.3(COL6A1):c.2129C>T (p.Thr710Met)

SNV
Germline

Chr21:46002280

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_765641686

3 SubmittersRCV000730385 RCV001043805 RCV004026990

NM_004369.4(COL6A3):c.9192T>G (p.Ser3064=)

SNV
Germline

Chr2:237334663

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_1253951128

2 SubmittersRCV000731146 RCV002535193

NM_001848.3(COL6A1):c.641C>T (p.Thr214Met)

SNV
Germline

Chr21:45986996

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_369123247

3 SubmittersRCV000731150 RCV001218436

NM_001848.3(COL6A1):c.1898T>C (p.Ile633Thr)

SNV
Germline

Chr21:46001328

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_1237092252

3 SubmittersRCV000731310 RCV001373094

NM_001849.4(COL6A2):c.1459-8G>A

SNV
Germline

Chr21:46121548

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_546206539

2 SubmittersRCV000731679 RCV002536468

NM_001849.4(COL6A2):c.999+10G>T

SNV
Germline

Chr21:46116824

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

rs_376378709

3 SubmittersRCV000731682 RCV001079075 RCV004540062

NM_001849.4(COL6A2):c.855+8T>C

SNV
Germline

Chr21:46115933

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_370008311

2 SubmittersRCV000731684 RCV001087684

NM_001848.3(COL6A1):c.352G>A (p.Asp118Asn)

SNV
Germline

Chr21:45984393

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_747665716

5 SubmittersRCV000731781 RCV001855666 RCV003243281

NM_001848.3(COL6A1):c.903+1G>T

SNV
Germline

Chr21:45989653

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569518119

3 SubmittersRCV000731794 RCV001225110

NM_004369.4(COL6A3):c.5838+1G>T

SNV
Germline

Chr2:237365697

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1559234260

2 SubmittersRCV000732220 RCV000794660

NM_001848.3(COL6A1):c.388G>A (p.Asp130Asn)

SNV
Germline

Chr21:45984429

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_1235398371

2 SubmittersRCV000732245 RCV002535260

NM_004369.4(COL6A3):c.2068G>A (p.Glu690Lys)

SNV
Germline

Chr2:237379065

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_368161217

3 SubmittersRCV000732309 RCV001868974

NM_004369.4(COL6A3):c.2561T>C (p.Val854Ala)

SNV
Germline

Chr2:237377281

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_747449879

2 SubmittersRCV000732405 RCV001855684

NM_004369.4(COL6A3):c.3588C>T (p.Thr1196=)

SNV
Germline

Chr2:237374503

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_1434102843

2 SubmittersRCV000732407 RCV002535272

NM_001848.3(COL6A1):c.2050G>A (p.Val684Met)

SNV
Germline

Chr21:46002054

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_138312247

2 SubmittersRCV000792637 RCV000732422

NM_001849.4(COL6A2):c.1817-9C>T

SNV
Germline

Chr21:46125456

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_766915366

2 SubmittersRCV000732424 RCV001443059

NM_004369.4(COL6A3):c.6639C>A (p.Gly2213=)

SNV
Germline

Chr2:237353392

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_765837100

2 SubmittersRCV000732520 RCV002067132

NM_001849.4(COL6A2):c.1060G>C (p.Asp354His)

SNV
Germline

Chr21:46117880

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_188184732

2 SubmittersRCV000732608 RCV002536484

NM_004369.4(COL6A3):c.5387C>T (p.Ala1796Val)

SNV
Germline

Chr2:237366800

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_772890888

3 SubmittersRCV000732612 RCV000795206 RCV002535285

NM_001849.4(COL6A2):c.1026T>C (p.Pro342=)

SNV
Germline

Chr21:46117426

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_1568930411

2 SubmittersRCV000732685 RCV001417617

NM_001848.3(COL6A1):c.2783G>T (p.Arg928Leu)

SNV
Germline

Chr21:46003709

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_144671871

2 SubmittersRCV000732715 RCV000804778

NM_004369.4(COL6A3):c.6869G>A (p.Arg2290His)

SNV
Germline

Chr2:237350157

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_398124131

3 SubmittersRCV000732856 RCV003117534

NM_001849.4(COL6A2):c.162G>A (p.Ser54=)

SNV
Germline

Chr21:46112025

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_780123839

3 SubmittersRCV000732901 RCV002061015

NM_004369.4(COL6A3):c.29T>C (p.Val10Ala)

SNV
Germline

Chr2:237396789

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_766458324

2 SubmittersRCV000732942 RCV002535302

NM_004369.4(COL6A3):c.5826G>A (p.Pro1942=)

SNV
Germline

Chr2:237365710

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_113283088

2 SubmittersRCV000732971 RCV002067138

NM_004369.4(COL6A3):c.6798C>G (p.Thr2266=)

SNV
Germline

Chr2:237351148

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_116541926

2 SubmittersRCV000733073 RCV002535311

NM_004369.4(COL6A3):c.4239A>G (p.Ser1413=)

SNV
Germline

Chr2:237371778

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_759052298

2 SubmittersRCV000733161 RCV002067145

NM_001849.4(COL6A2):c.1959G>A (p.Lys653=)

SNV
Germline

Chr21:46125607

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_547589437

3 SubmittersRCV000733179 RCV001458196

NM_001848.3(COL6A1):c.2097C>T (p.Gly699=)

SNV
Germline

Chr21:46002248

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_537366421

2 SubmittersRCV000733180 RCV001398826

NM_001848.3(COL6A1):c.1710A>C (p.Ala570=)

SNV
Germline

Chr21:45999188

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_763515261

3 SubmittersRCV000733192 RCV001142785 RCV002067147

NM_004369.4(COL6A3):c.4404C>T (p.Ile1468=)

SNV
Germline

Chr2:237369059

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_371075249

2 SubmittersRCV000733326 RCV003517262

NM_001848.3(COL6A1):c.1659G>A (p.Gly553=)

SNV
Germline

Chr21:45998944

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_746962599

2 SubmittersRCV000733327 RCV001501311

NM_001849.4(COL6A2):c.2010C>A (p.Thr670=)

SNV
Germline

Chr21:46125825

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_142065958

2 SubmittersRCV000733406 RCV001492671

NM_004369.4(COL6A3):c.8743G>A (p.Ala2915Thr)

SNV
Germline

Chr2:237336357

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_377528704

2 SubmittersRCV000733409 RCV001340091

NM_004369.4(COL6A3):c.3279C>T (p.Asn1093=)

SNV
Germline

Chr2:237374812

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_777242754

2 SubmittersRCV000733510 RCV001428682

NM_001848.3(COL6A1):c.2712C>T (p.Val904=)

SNV
Germline

Chr21:46003638

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_780582491

3 SubmittersRCV000733544 RCV001487062

NM_004369.4(COL6A3):c.1958C>A (p.Thr653Asn)

SNV
Germline

Chr2:237379175

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_753557181

2 SubmittersRCV000733546 RCV000803847

NM_001848.3(COL6A1):c.958-9G>A

SNV
Germline

Chr21:45990369

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_375638855

2 SubmittersRCV000733602 RCV001473679

NM_001849.4(COL6A2):c.866G>T (p.Gly289Val)

SNV
Germline

Chr21:46116019

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

rs_886043554

2 SubmittersRCV000733603 RCV001045162

NM_001849.4(COL6A2):c.901-3C>G

SNV
Germline

Chr21:46116374

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_112317259

3 SubmittersRCV000733703 RCV002226739

NM_004369.4(COL6A3):c.7158A>G (p.Lys2386=)

SNV
Germline

Chr2:237345062

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_376714139

2 SubmittersRCV000733813 RCV002067158

NM_001848.3(COL6A1):c.1264G>A (p.Gly422Arg)

SNV
Germline

Chr21:45992390

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_774032338

2 SubmittersRCV000733824 RCV003631160

NM_004369.4(COL6A3):c.5379C>T (p.Ser1793=)

SNV
Germline

Chr2:237366808

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_760201640

2 SubmittersRCV000733868 RCV002067159

NM_001849.4(COL6A2):c.2742C>T (p.Phe914=)

SNV
Germline

Chr21:46132234

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

rs_747734639

3 SubmittersRCV000733880 RCV001088023 RCV001137048

NM_001848.3(COL6A1):c.2713G>A (p.Asp905Asn)

SNV
Germline

Chr21:46003639

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_149331149

2 SubmittersRCV000734244 RCV000799978

NM_001848.3(COL6A1):c.1451C>T (p.Pro484Leu)

SNV
Germline

Chr21:45997473

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_779748438

3 SubmittersRCV000734280 RCV002067164

NM_004369.4(COL6A3):c.9339G>A (p.Lys3113=)

SNV
Germline

Chr2:237325714

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

rs_113422196

3 SubmittersRCV000734364 RCV002067166 RCV004547938

NM_001849.4(COL6A2):c.408C>T (p.Cys136=)

SNV
Germline

Chr21:46112271

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_745970130

2 SubmittersRCV000734803 RCV001223965

NM_001848.3(COL6A1):c.2029C>T (p.Arg677Cys)

SNV
Germline

Chr21:46002033

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_189623561

4 SubmittersRCV000734881 RCV001855822 RCV004027093

NM_001848.3(COL6A1):c.355G>A (p.Ala119Thr)

SNV
Germline

Chr21:45984396

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_149392243

3 SubmittersRCV000734898 RCV001223267

NM_001848.3(COL6A1):c.696C>T (p.Ile232=)

SNV
Germline

Chr21:45987051

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_139148709

2 SubmittersRCV000735169 RCV001470150

NM_004369.4(COL6A3):c.4765G>A (p.Asp1589Asn)

SNV
Germline

Chr2:237368698

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_904372024

4 SubmittersRCV000735177 RCV000804355

NM_001848.3(COL6A1):c.739-2A>G

SNV
Germline

Chr21:45987497

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2123467538

1 SubmittersRCV001953904

NM_001849.4(COL6A2):c.1806C>A (p.Cys602Ter)

SNV
Germline

Chr21:46125301

Likely pathogenic

Bethlem myopathy 1A
Myosclerosis

Criteria Provided
Single Submitter

rs_751987553

1 SubmittersRCV000754719 RCV000754726

NM_001849.4(COL6A2):c.2891T>C (p.Met964Thr)

SNV
Germline

Chr21:46132383

Conflicting classifications of pathogenicity

Myosclerosis
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_1427750922

2 SubmittersRCV000754727 RCV001855854

NM_001849.4(COL6A2):c.1770+1G>A

SNV
Germline

Chr21:46124921

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_752803039

3 SubmittersRCV000778642 RCV002263970 RCV003768432

NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter)

SNV
Germline

Chr2:237363366

Pathogenic/Likely pathogenic

Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_771941724

4 SubmittersRCV000785956 RCV002290033 RCV002510975

NM_001848.3(COL6A1):c.904-39A>G

SNV
Germline

Chr21:45989713

Pathogenic/Likely pathogenic

Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569518138

2 SubmittersRCV000785892 RCV001384958

NM_004369.4(COL6A3):c.8627C>T (p.Pro2876Leu)

SNV
Germline

Chr2:237336473

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_367635298

2 SubmittersRCV000816271 RCV003145189

NM_004369.4(COL6A3):c.6309G>A (p.Lys2103=)

SNV
Germline

Chr2:237359362

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_1574975196

1 SubmittersRCV000816361

NM_004369.4(COL6A3):c.6308A>G (p.Lys2103Arg)

SNV
Germline

Chr2:237359363

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_1574975203

1 SubmittersRCV000806159

NM_004369.4(COL6A3):c.6224C>T (p.Pro2075Leu)

SNV
Germline

Chr2:237360146

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Collagen 6-related myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_113331139

4 SubmittersRCV000819528 RCV001136581 RCV002473152

NM_004369.4(COL6A3):c.6068A>G (p.Asn2023Ser)

SNV
Germline

Chr2:237361827

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_115320113

2 SubmittersRCV000796234 RCV003489875

NM_004369.4(COL6A3):c.5419G>A (p.Glu1807Lys)

SNV
Germline

Chr2:237366768

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Collagen 6-related myopathy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_781624176

4 SubmittersRCV000812542 RCV001143251 RCV002538124 RCV003145173

NM_004369.4(COL6A3):c.2959G>A (p.Val987Met)

SNV
Germline

Chr2:237376883

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_140437593

3 SubmittersRCV000812938 RCV002538138 RCV003145175

NM_004369.4(COL6A3):c.2431C>T (p.Gln811Ter)

SNV
Germline

Chr2:237378702

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_1574719512

1 SubmittersRCV000811569

NM_004369.4(COL6A3):c.2342C>T (p.Ala781Val)

SNV
Germline

Chr2:237378791

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_116753562

2 SubmittersRCV000802726 RCV003144622

NM_004369.4(COL6A3):c.2144C>T (p.Ser715Leu)

SNV
Germline

Chr2:237378989

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_780115806

2 SubmittersRCV000792104 RCV003141773

NM_004369.4(COL6A3):c.2066C>T (p.Thr689Met)

SNV
Germline

Chr2:237379067

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_762162177

4 SubmittersRCV000807560 RCV001558584 RCV002537255

NM_004369.4(COL6A3):c.1791C>A (p.Phe597Leu)

SNV
Germline

Chr2:237381021

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_76576170

3 SubmittersRCV000823203 RCV003317385

NM_004369.4(COL6A3):c.764G>A (p.Ser255Asn)

SNV
Germline

Chr2:237388130

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_755138368

3 SubmittersRCV000817845 RCV001776034

NM_004369.4(COL6A3):c.439G>A (p.Val147Ile)

SNV
Germline

Chr2:237394857

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_536452909

2 SubmittersRCV000793858 RCV003432767

NM_004369.4(COL6A3):c.253G>A (p.Gly85Arg)

SNV
Germline

Chr2:237395043

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_755587601

3 SubmittersRCV000799815 RCV002537113 RCV003489883

NM_004370.6(COL12A1):c.8886G>T (p.Gly2962=)

SNV
Germline

Chr6:75090165

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

rs_373455368

2 SubmittersRCV000791855

NM_004370.6(COL12A1):c.8812C>T (p.Arg2938Cys)

SNV
Germline

Chr6:75090239

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_778941390

3 SubmittersRCV000801413 RCV002534678 RCV003884733

NM_004370.6(COL12A1):c.8713C>T (p.Arg2905Ter)

SNV
Germline

Chr6:75091362

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
COL12A1-related disorder

Criteria Provided
Conflicting Classifications

rs_371399251

3 SubmittersRCV000796327 RCV003148865 RCV003411750

NM_004370.6(COL12A1):c.7885G>A (p.Glu2629Lys)

SNV
Germline

Chr6:75113269

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_147044263

4 SubmittersRCV000814443 RCV001566822

NM_004370.6(COL12A1):c.7009G>A (p.Asp2337Asn)

SNV
Germline

Chr6:75121379

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_772161963

2 SubmittersRCV000804321 RCV001759536

NM_004370.6(COL12A1):c.6940C>T (p.Arg2314Trp)

SNV
Germline

Chr6:75123336

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_368686970

2 SubmittersRCV000809819 RCV003145162

NM_004370.6(COL12A1):c.6718G>A (p.Ala2240Thr)

SNV
Germline

Chr6:75124261

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_199654252

2 SubmittersRCV000795337 RCV001548162

NM_004370.6(COL12A1):c.6074G>A (p.Arg2025His)

SNV
Germline

Chr6:75130227

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_34336755

3 SubmittersRCV000797248 RCV001558174

NM_004370.6(COL12A1):c.5645C>T (p.Ala1882Val)

SNV
Germline

Chr6:75133877

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_565471668

2 SubmittersRCV000808585 RCV003145161

NM_004370.6(COL12A1):c.5635G>A (p.Ala1879Thr)

SNV
Germline

Chr6:75133887

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_184585202

4 SubmittersRCV000801635 RCV001766661 RCV002534680

NM_004370.6(COL12A1):c.5411G>A (p.Arg1804Gln)

SNV
Germline

Chr6:75134839

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
COL12A1-related disorder

Criteria Provided
Conflicting Classifications

rs_200091648

5 SubmittersRCV000821770 RCV001585761 RCV003392625

NM_004370.6(COL12A1):c.5230C>T (p.Leu1744=)

SNV
Germline

Chr6:75138448

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_552834799

2 SubmittersRCV000803398 RCV001544912

NM_004370.6(COL12A1):c.5208C>A (p.Asp1736Glu)

SNV
Germline

Chr6:75138470

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_776561287

2 SubmittersRCV000810411 RCV002510984

NM_004370.6(COL12A1):c.5207A>G (p.Asp1736Gly)

SNV
Germline

Chr6:75138471

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_762021815

4 SubmittersRCV000809094 RCV001809824 RCV001564747 RCV003166281

NM_004370.6(COL12A1):c.5138A>G (p.Asn1713Ser)

SNV
Germline

Chr6:75138540

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_373020081

2 SubmittersRCV000800122 RCV001569003

NM_004370.6(COL12A1):c.5126T>C (p.Leu1709Ser)

SNV
Germline

Chr6:75138552

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201810535

2 SubmittersRCV000809373 RCV001776022

NM_004370.6(COL12A1):c.5116G>A (p.Glu1706Lys)

SNV
Germline

Chr6:75138562

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

rs_767343975

2 SubmittersRCV000812910 RCV001336678

NM_004370.6(COL12A1):c.4918G>A (p.Glu1640Lys)

SNV
Germline

Chr6:75142071

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
COL12A1-related disorder

Criteria Provided
Conflicting Classifications

rs_780206104

3 SubmittersRCV000803139 RCV001759529 RCV003411767

NM_004370.6(COL12A1):c.4864A>G (p.Lys1622Glu)

SNV
Germline

Chr6:75142125

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_754277446

2 SubmittersRCV000794656 RCV003144596

NM_004370.6(COL12A1):c.4807C>G (p.Pro1603Ala)

SNV
Germline

Chr6:75143272

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200034130

4 SubmittersRCV000803824 RCV001509279 RCV004028154

NM_004370.6(COL12A1):c.4678C>T (p.Arg1560Trp)

SNV
Germline

Chr6:75145338

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_370360673

3 SubmittersRCV000795382 RCV003228989

NM_004370.6(COL12A1):c.4565G>A (p.Arg1522His)

SNV
Germline

Chr6:75145451

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_751419788

3 SubmittersRCV000805373 RCV001559639

NM_004370.6(COL12A1):c.4300C>T (p.Arg1434Ter)

SNV
Germline

Chr6:75147792

Pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

rs_1562223444

1 SubmittersRCV000817058

NM_004370.6(COL12A1):c.3856C>T (p.Arg1286Cys)

SNV
Germline

Chr6:75152011

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_764448554

2 SubmittersRCV000816309 RCV002534895

NM_004370.6(COL12A1):c.3758T>G (p.Leu1253Ter)

SNV
Germline

Chr6:75152208

Pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

rs_1582139761

1 SubmittersRCV000801561

NM_004370.6(COL12A1):c.3570G>A (p.Met1190Ile)

SNV
Germline

Chr6:75152478

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_536615203

3 SubmittersRCV000811174 RCV001585742

NM_004370.6(COL12A1):c.3151G>C (p.Val1051Leu)

SNV
Germline

Chr6:75156356

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_374540275

4 SubmittersRCV000818667 RCV002255168

NM_004370.6(COL12A1):c.2797C>T (p.Arg933Cys)

SNV
Germline

Chr6:75165693

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_377223474

3 SubmittersRCV000819878 RCV003151820

NM_004370.6(COL12A1):c.2323A>G (p.Arg775Gly)

SNV
Germline

Chr6:75177777

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200167099

3 SubmittersRCV000812517 RCV002537374 RCV003225130

NM_004370.6(COL12A1):c.2158G>A (p.Glu720Lys)

SNV
Germline

Chr6:75180945

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_768052470

3 SubmittersRCV000819404 RCV001766730

NM_004370.6(COL12A1):c.1163C>T (p.Thr388Met)

SNV
Germline

Chr6:75183979

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201657256

4 SubmittersRCV000802355 RCV001585727 RCV004028102

NM_004370.6(COL12A1):c.173C>T (p.Thr58Met)

SNV
Germline

Chr6:75194848

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_140583215

2 SubmittersRCV000795869 RCV003144599

NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala)

SNV
Germline

Chr6:75194903

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201343487

4 SubmittersRCV000815338 RCV001759584 RCV002534866

NM_004370.6(COL12A1):c.110A>G (p.Asp37Gly)

SNV
Germline

Chr6:75194911

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_374757163

2 SubmittersRCV000815534 RCV001759586

NM_004370.6(COL12A1):c.62T>C (p.Ile21Thr)

SNV
Germline

Chr6:75202731

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_576888932

2 SubmittersRCV000817608 RCV001823169

NM_004370.6(COL12A1):c.43G>T (p.Ala15Ser)

SNV
Germline

Chr6:75202750

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1453508139

4 SubmittersRCV000794356 RCV001532078 RCV002535905

NM_001848.3(COL6A1):c.58C>T (p.Gln20Ter)

SNV
Germline

Chr21:45981908

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_1603589167

1 SubmittersRCV000804162

NM_001848.3(COL6A1):c.269C>T (p.Ala90Val)

SNV
Germline

Chr21:45984310

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_766517983

2 SubmittersRCV000795225 RCV001572104

NM_001848.3(COL6A1):c.334G>A (p.Ala112Thr)

SNV
Germline

Chr21:45984375

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Collagen 6-related myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_568865339

3 SubmittersRCV000802168 RCV001140699 RCV003144620

NM_001848.3(COL6A1):c.878G>A (p.Gly293Glu)

SNV
Germline

Chr21:45989627

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_1603590641

1 SubmittersRCV000792380

NM_001848.3(COL6A1):c.887G>T (p.Gly296Val)

SNV
Germline

Chr21:45989636

Pathogenic/Likely pathogenic

Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603590649

2 SubmittersRCV000813720 RCV001729711

NM_001848.3(COL6A1):c.1315C>T (p.Arg439Trp)

SNV
Germline

Chr21:45992790

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_368239109

2 SubmittersRCV000820060 RCV001796253

NM_001848.3(COL6A1):c.1982G>A (p.Gly661Asp)

SNV
Germline

Chr21:46001986

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_771702139

4 SubmittersRCV000819305 RCV002535499 RCV001579818

NM_001848.3(COL6A1):c.2518G>A (p.Val840Met)

SNV
Germline

Chr21:46003444

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_751124572

4 SubmittersRCV000804645 RCV001198711 RCV001531975

NM_001848.3(COL6A1):c.2963C>G (p.Thr988Ser)

SNV
Germline

Chr21:46003889

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Collagen 6-related myopathy
COL6A1-related disorder

Criteria Provided
Conflicting Classifications

rs_746046225

3 SubmittersRCV000809599 RCV003483736 RCV004540112

NM_001849.4(COL6A2):c.460G>A (p.Val154Ile)

SNV
Germline

Chr21:46112323

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_751410120

2 SubmittersRCV000814797 RCV003145180

NM_001849.4(COL6A2):c.556C>T (p.Arg186Trp)

SNV
Germline

Chr21:46112419

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_754048358

3 SubmittersRCV000817534 RCV003145193 RCV004028917

NM_001849.4(COL6A2):c.904G>A (p.Val302Ile)

SNV
Germline

Chr21:46116380

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_755822013

2 SubmittersRCV000796157 RCV003480831

NM_001849.4(COL6A2):c.1621G>A (p.Asp541Asn)

SNV
Germline

Chr21:46122887

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_138276378

2 SubmittersRCV000791667 RCV003144586

NM_001849.4(COL6A2):c.2557C>T (p.Arg853Trp)

SNV
Germline

Chr21:46132049

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_759689002

2 SubmittersRCV000822068 RCV003145207

NM_001849.4(COL6A2):c.2561G>A (p.Arg854His)

SNV
Germline

Chr21:46132053

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201035005

2 SubmittersRCV000815789 RCV003145186

NM_001849.4(COL6A2):c.2938G>A (p.Val980Met)

SNV
Germline

Chr21:46132430

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_140020002

2 SubmittersRCV000794099 RCV003144592

NM_001849.4(COL6A2):c.2977C>T (p.Arg993Cys)

SNV
Germline

Chr21:46132469

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_532656197

3 SubmittersRCV000814216 RCV001535442 RCV003141832

NM_001848.3(COL6A1):c.1003-2A>C

SNV
Germline

Chr21:45990771

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_797045477

1 SubmittersRCV000808978

NM_001848.3(COL6A1):c.1003-1G>T

SNV
Germline

Chr21:45990772

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_886043330

1 SubmittersRCV000810758

NM_001848.3(COL6A1):c.1575+1G>A

SNV
Germline

Chr21:45998172

Likely pathogenic

Bethlem myopathy 1A
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1002726737

4 SubmittersRCV000802722 RCV002487704 RCV003128707

NM_001849.4(COL6A2):c.1180-2A>G

SNV
Germline

Chr21:46119028

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_1601232289

1 SubmittersRCV000801168

NM_001849.4(COL6A2):c.116-3C>T

SNV
Germline

Chr21:46111976

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

rs_767597831

4 SubmittersRCV000795776 RCV001592973 RCV004538090

NM_001849.4(COL6A2):c.736-1G>C

SNV
Germline

Chr21:46114007

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_1601221868

1 SubmittersRCV000797340

NM_004370.6(COL12A1):c.8464C>T (p.Arg2822Ter)

SNV
Germline

Chr6:75102004

Pathogenic

Ullrich congenital muscular dystrophy 2
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_984314526

2 SubmittersRCV000853305 RCV003768631

NM_004369.4(COL6A3):c.913G>A (p.Val305Ile)

SNV
Germline

Chr2:237387981

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_564041158

2 SubmittersRCV000878953 RCV003159168

NM_004370.6(COL12A1):c.8185G>A (p.Glu2729Lys)

SNV
Germline

Chr6:75105286

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200693552

3 SubmittersRCV000875251 RCV001534372 RCV004027858

NM_004370.6(COL12A1):c.6928A>G (p.Ile2310Val)

SNV
Germline

Chr6:75123348

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_752850582

3 SubmittersRCV000876123 RCV001759659

NM_004370.6(COL12A1):c.5585T>C (p.Val1862Ala)

SNV
Germline

Chr6:75133937

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
COL12A1-related disorder

Criteria Provided
Conflicting Classifications

rs_200029869

3 SubmittersRCV000878942 RCV003145226 RCV003908374

NM_001848.3(COL6A1):c.594G>A (p.Pro198=)

SNV
Germline

Chr21:45986949

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

rs_376592866

2 SubmittersRCV001431363 RCV001142577

NM_001848.3(COL6A1):c.2041A>G (p.Ile681Val)

SNV
Germline

Chr21:46002045

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_377455608

5 SubmittersRCV000878284 RCV001084612 RCV002539261

NM_001849.4(COL6A2):c.522G>A (p.Lys174=)

SNV
Germline

Chr21:46112385

Conflicting classifications of pathogenicity

COL6A2-related disorder
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_554016354

2 SubmittersRCV004530855 RCV002539231

NM_004369.4(COL6A3):c.1092C>T (p.Tyr364=)

SNV
Germline

Chr2:237387802

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

rs_548519047

3 SubmittersRCV000946325 RCV003145238 RCV004553387

NM_004370.6(COL12A1):c.3652G>A (p.Val1218Met)

SNV
Germline

Chr6:75152396

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201749138

4 SubmittersRCV000945934 RCV001356650 RCV001593138

NM_004369.4(COL6A3):c.2757G>A (p.Ala919=)

SNV
Germline

Chr2:237377085

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_115874872

2 SubmittersRCV000964583 RCV003145241

NM_004370.6(COL12A1):c.695C>T (p.Thr232Met)

SNV
Germline

Chr6:75189345

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

rs_200443479

2 SubmittersRCV000960330 RCV001078962

NM_004369.4(COL6A3):c.7659C>T (p.Asn2553=)

SNV
Germline

Chr2:237344359

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

rs_369335838

2 SubmittersRCV000904536 RCV001143033

NM_004369.4(COL6A3):c.2643C>T (p.Ser881=)

SNV
Germline

Chr2:237377199

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

rs_550122375

2 SubmittersRCV000904483 RCV001143558

NM_004370.6(COL12A1):c.4962C>T (p.Pro1654=)

SNV
Germline

Chr6:75138957

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_771078518

3 SubmittersRCV000904864 RCV001569935

NM_004369.4(COL6A3):c.4614C>T (p.Asp1538=)

SNV
Germline

Chr2:237368849

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Dystonia 27

Criteria Provided
Conflicting Classifications

rs_199759398

3 SubmittersRCV000924121 RCV001726374 RCV002298800

NM_001849.4(COL6A2):c.201C>T (p.Leu67=)

SNV
Germline

Chr21:46112064

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_1601216910

2 SubmittersRCV001334961 RCV001503213

NM_001849.4(COL6A2):c.928-10T>A

SNV
Germline

Chr21:46116641

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_747608945

2 SubmittersRCV000919963 RCV001772168

NM_004369.4(COL6A3):c.249C>T (p.Phe83=)

SNV
Germline

Chr2:237395047

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_758434537

3 SubmittersRCV000932923 RCV001435913

NM_004369.4(COL6A3):c.6931-6T>C

SNV
Germline

Chr2:237348390

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

rs_376338674

2 SubmittersRCV000950998 RCV001141288

NM_004369.4(COL6A3):c.237T>C (p.Ala79=)

SNV
Germline

Chr2:237395059

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Dystonia 27

Criteria Provided
Conflicting Classifications

rs_747312241

2 SubmittersRCV000977370 RCV002298808

NM_004370.6(COL12A1):c.2372C>T (p.Ser791Phe)

SNV
Germline

Chr6:75177728

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376517147

3 SubmittersRCV000983818 RCV001840778

NM_004370.6(COL12A1):c.2357C>T (p.Thr786Met)

SNV
Germline

Chr6:75177743

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_148810173

4 SubmittersRCV000981736 RCV001576112 RCV004030054

NM_004370.6(COL12A1):c.1517C>G (p.Ala506Gly)

SNV
Germline

Chr6:75183424

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_189762594

4 SubmittersRCV000981737 RCV001565737 RCV002548457

NM_004369.4(COL6A3):c.6309G>C (p.Lys2103Asn)

SNV
Germline

Chr2:237359362

Conflicting classifications of pathogenicity

Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_1574975196

2 SubmittersRCV000987063

NM_001848.3(COL6A1):c.869G>A (p.Gly290Glu)

SNV
Germline

Chr21:45989618

Pathogenic

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603590637

2 SubmittersRCV000990364 RCV001531974

NM_001849.4(COL6A2):c.901G>T (p.Gly301Cys)

SNV
Unknown

Chr21:46116377

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_886042705

1 SubmittersRCV000990366

NM_004370.6(COL12A1):c.3508G>A (p.Val1170Ile)

SNV
Germline

Chr6:75154473

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

rs_201542066

4 SubmittersRCV000998651 RCV001869407

NM_001848.3(COL6A1):c.1313C>T (p.Thr438Met)

SNV
Germline

Chr21:45992788

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_376807461

3 SubmittersRCV000997843 RCV001858866

NM_001849.4(COL6A2):c.2494G>A (p.Val832Met)

SNV
Germline

Chr21:46131986

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_376841327

2 SubmittersRCV000997846 RCV001869400

NM_004369.4(COL6A3):c.1840C>T (p.Gln614Ter)

SNV
Germline

Chr2:237380972

Pathogenic

Bethlem myopathy 1A

No Assertion Criteria Provided

rs_1574724863

1 SubmittersRCV001007787

NM_004369.4(COL6A3):c.9499G>A (p.Ala3167Thr)

SNV
Germline

Chr2:237324809

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_537511128

2 SubmittersRCV001052359 RCV003145299

NM_004369.4(COL6A3):c.7666C>T (p.Gln2556Ter)

SNV
Germline

Chr2:237344352

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2077054122

1 SubmittersRCV001047280

NM_004369.4(COL6A3):c.6394A>T (p.Asn2132Tyr)

SNV
Germline

Chr2:237359049

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_750889657

3 SubmittersRCV001056660 RCV001772271

NM_004369.4(COL6A3):c.5753G>A (p.Arg1918His)

SNV
Germline

Chr2:237365783

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_139230842

2 SubmittersRCV001047150 RCV003141972

NM_004369.4(COL6A3):c.5693T>C (p.Val1898Ala)

SNV
Germline

Chr2:237365843

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

rs_774606469

2 SubmittersRCV001068091 RCV001141404

NM_004369.4(COL6A3):c.5544C>A (p.Asp1848Glu)

SNV
Germline

Chr2:237365992

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases
COL6A3-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_531282669

4 SubmittersRCV001063898 RCV002554459 RCV004547971 RCV003145323

NM_004369.4(COL6A3):c.4690C>T (p.Arg1564Cys)

SNV
Germline

Chr2:237368773

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200825417

2 SubmittersRCV001053143 RCV002553749

NM_004369.4(COL6A3):c.4595C>T (p.Ala1532Val)

SNV
Germline

Chr2:237368868

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Collagen 6-related myopathy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_372247515

5 SubmittersRCV001071004 RCV001141517 RCV002555902 RCV002291717

NM_004369.4(COL6A3):c.2809G>A (p.Glu937Lys)

SNV
Germline

Chr2:237377033

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

rs_774872934

2 SubmittersRCV001045542 RCV004553581

NM_004369.4(COL6A3):c.2320T>C (p.Phe774Leu)

SNV
Germline

Chr2:237378813

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_572969883

3 SubmittersRCV001143561 RCV001071432 RCV003883547

NM_004369.4(COL6A3):c.2162C>G (p.Ser721Ter)

SNV
Germline

Chr2:237378971

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_377632042

2 SubmittersRCV001037083 RCV002245838

NM_004369.4(COL6A3):c.1825C>T (p.Arg609Ter)

SNV
Germline

Chr2:237380987

Pathogenic/Likely pathogenic

Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_755382829

2 SubmittersRCV001063703 RCV004547970

NM_004369.4(COL6A3):c.1624G>A (p.Gly542Ser)

SNV
Germline

Chr2:237381188

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_756045079

2 SubmittersRCV001062883 RCV004030472

NM_004369.4(COL6A3):c.1594G>A (p.Val532Ile)

SNV
Germline

Chr2:237381218

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_757748748

2 SubmittersRCV001068806 RCV002555872

NM_004370.6(COL12A1):c.8554C>T (p.Pro2852Ser)

SNV
Germline

Chr6:75097276

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200375837

3 SubmittersRCV001036304 RCV003148915

NM_004370.6(COL12A1):c.8383G>T (p.Gly2795Ter)

SNV
Germline

Chr6:75102629

Pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

rs_1768358162

1 SubmittersRCV001036430

NM_004370.6(COL12A1):c.7816C>T (p.Pro2606Ser)

SNV
Germline

Chr6:75113626

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

rs_994920789

2 SubmittersRCV001045478

NM_004370.6(COL12A1):c.7438G>A (p.Val2480Met)

SNV
Germline

Chr6:75117463

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_183898615

2 SubmittersRCV001042492 RCV003145274

NM_004370.6(COL12A1):c.6224G>A (p.Gly2075Asp)

SNV
Germline

Chr6:75128412

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_754228661

3 SubmittersRCV001055639 RCV001786430

NM_004370.6(COL12A1):c.5770C>T (p.Arg1924Cys)

SNV
Germline

Chr6:75133317

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_775862147

4 SubmittersRCV001049461 RCV002466613

NM_004370.6(COL12A1):c.5507C>T (p.Thr1836Met)

SNV
Germline

Chr6:75134743

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200108494

5 SubmittersRCV001038960 RCV001546611

NM_004370.6(COL12A1):c.4762C>A (p.Pro1588Thr)

SNV
Germline

Chr6:75143317

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_772069524

3 SubmittersRCV001046112 RCV003145283

NM_004370.6(COL12A1):c.4630A>G (p.Thr1544Ala)

SNV
Germline

Chr6:75145386

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_777544552

3 SubmittersRCV001055723 RCV003145307

NM_004370.6(COL12A1):c.4616C>T (p.Thr1539Met)

SNV
Germline

Chr6:75145400

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_373216375

3 SubmittersRCV001040597 RCV003145267 RCV003160265

NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter)

SNV
Germline

Chr6:75148405

Pathogenic/Likely pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1767310072

3 SubmittersRCV001058328 RCV001811635

NM_004370.6(COL12A1):c.3634C>T (p.Arg1212Trp)

SNV
Germline

Chr6:75152414

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_746929943

2 SubmittersRCV001039605 RCV001200477

NM_004370.6(COL12A1):c.3466A>C (p.Asn1156His)

SNV
Germline

Chr6:75154515

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_764153192

2 SubmittersRCV001042896 RCV001571233

NM_004370.6(COL12A1):c.3247A>G (p.Thr1083Ala)

SNV
Germline

Chr6:75156260

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_375221786

2 SubmittersRCV001037081 RCV002274119

NM_004370.6(COL12A1):c.2473C>G (p.Pro825Ala)

SNV
Germline

Chr6:75175275

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_770324764

2 SubmittersRCV001056067 RCV003160452

NM_004370.6(COL12A1):c.2009C>G (p.Ala670Gly)

SNV
Germline

Chr6:75181094

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_774882851

2 SubmittersRCV001039749 RCV003145264

NM_004370.6(COL12A1):c.1742G>A (p.Arg581His)

SNV
Germline

Chr6:75183199

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_756803766

2 SubmittersRCV001071660 RCV003145343

NM_004370.6(COL12A1):c.1258G>C (p.Glu420Gln)

SNV
Germline

Chr6:75183884

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_757252832

2 SubmittersRCV001041898 RCV003145272

NM_004370.6(COL12A1):c.794G>A (p.Arg265His)

SNV
Germline

Chr6:75189246

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_778155362

3 SubmittersRCV001038245 RCV002466609 RCV003243409

NM_001848.3(COL6A1):c.475G>A (p.Gly159Arg)

SNV
Germline

Chr21:45986572

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Conflicting Classifications

rs_1471465037

2 SubmittersRCV001046517 RCV001729783

NM_001848.3(COL6A1):c.785G>A (p.Arg262Gln)

SNV
Germline

Chr21:45987635

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_757791812

2 SubmittersRCV001048838 RCV003145292

NM_001848.3(COL6A1):c.860G>A (p.Gly287Glu)

SNV
Germline

Chr21:45989609

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Conflicting Classifications

rs_2077761954

2 SubmittersRCV001039119 RCV003989629

NM_001848.3(COL6A1):c.895G>A (p.Gly299Arg)

SNV
Germline

Chr21:45989644

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2077762322

1 SubmittersRCV001070303

NM_001848.3(COL6A1):c.1721G>A (p.Arg574Gln)

SNV
Germline

Chr21:45999199

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Conflicting Classifications

rs_201227573

4 SubmittersRCV001042836 RCV001142786 RCV003145276 RCV003483761

NM_001848.3(COL6A1):c.1940G>A (p.Arg647Gln)

SNV
Germline

Chr21:46001370

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_764762208

3 SubmittersRCV001062877 RCV003145321 RCV002555815

NM_001848.3(COL6A1):c.1982G>C (p.Gly661Ala)

SNV
Germline

Chr21:46001986

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_771702139

3 SubmittersRCV001065666 RCV001862470

NM_001848.3(COL6A1):c.2419G>A (p.Ala807Thr)

SNV
Germline

Chr21:46002695

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_143925936

4 SubmittersRCV001040535 RCV001508006

NM_001848.3(COL6A1):c.2951G>A (p.Arg984His)

SNV
Germline

Chr21:46003877

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Collagen 6-related myopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_746877994

3 SubmittersRCV001036854 RCV001138244 RCV002551368

NM_001849.4(COL6A2):c.356T>C (p.Ile119Thr)

SNV
Germline

Chr21:46112219

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_374011338

4 SubmittersRCV001045340 RCV002553120 RCV003145278

NM_001849.4(COL6A2):c.403G>A (p.Asp135Asn)

SNV
Germline

Chr21:46112266

Conflicting classifications of pathogenicity

Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_983938730

2 SubmittersRCV001064437

NM_001849.4(COL6A2):c.532G>A (p.Glu178Lys)

SNV
Germline

Chr21:46112395

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_369025432

4 SubmittersRCV001040992 RCV001811626 RCV003160269

NM_001849.4(COL6A2):c.794G>A (p.Gly265Glu)

SNV
Germline

Chr21:46114066

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2078438903

1 SubmittersRCV001038343

NM_001849.4(COL6A2):c.801G>A (p.Lys267=)

SNV
Germline

Chr21:46114073

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2078439012

1 SubmittersRCV001065847

NM_001849.4(COL6A2):c.820G>A (p.Gly274Ser)

SNV
Germline

Chr21:46115890

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2078462673

2 SubmittersRCV001043673 RCV003141959

NM_001849.4(COL6A2):c.892G>C (p.Gly298Arg)

SNV
Germline

Chr21:46116045

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_797045478

1 SubmittersRCV001060930

NM_001849.4(COL6A2):c.1673C>T (p.Ala558Val)

SNV
Germline

Chr21:46124652

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Collagen 6-related myopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_376303610

3 SubmittersRCV001039727 RCV001143418 RCV004031115

NM_001849.4(COL6A2):c.1765C>T (p.Leu589Phe)

SNV
Germline

Chr21:46124915

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_375966817

2 SubmittersRCV001036278 RCV003145260

NM_001849.4(COL6A2):c.1780G>A (p.Val594Ile)

SNV
Germline

Chr21:46125275

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_541785316

3 SubmittersRCV001069741 RCV003145338 RCV004526799

NM_001849.4(COL6A2):c.1912G>A (p.Val638Ile)

SNV
Germline

Chr21:46125560

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_554113319

3 SubmittersRCV001049375 RCV001772252

NM_001849.4(COL6A2):c.2704C>A (p.His902Asn)

SNV
Germline

Chr21:46132196

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

rs_773974101

2 SubmittersRCV001063991 RCV001137047

NM_001849.4(COL6A2):c.2755G>A (p.Ala919Thr)

SNV
Germline

Chr21:46132247

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_372523558

3 SubmittersRCV001058980 RCV003145317 RCV004031860

NM_004370.6(COL12A1):c.8179-2A>G

SNV
Germline

Chr6:75105294

Likely pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

rs_1768495540

1 SubmittersRCV001056502

NM_004370.6(COL12A1):c.8100+2T>C

SNV
Germline

Chr6:75109016

Pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

rs_1768702301

1 SubmittersRCV001046111

NM_001848.3(COL6A1):c.804+1G>A

SNV
Germline

Chr21:45987655

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_1385646650

1 SubmittersRCV001036325

NM_001849.4(COL6A2):c.856-2A>G

SNV
Germline

Chr21:46116007

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_886044466

1 SubmittersRCV001054906

NM_001848.3(COL6A1):c.2066+2T>C

SNV
Germline

Chr21:46002072

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2077849329

1 SubmittersRCV001056842

NM_001849.4(COL6A2):c.1179+1G>A

SNV
Germline

Chr21:46118677

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2078514224

1 SubmittersRCV001056424

NM_001849.4(COL6A2):c.714+1G>C

SNV
Germline

Chr21:46112578

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2078419667

1 SubmittersRCV001053984

NM_004370.6(COL12A1):c.8258G>A (p.Gly2753Asp)

SNV
Germline

Chr6:75105213

Likely pathogenic

Condition: not provided
Bethlem myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1768488927

2 SubmittersRCV001093180 RCV002226752

NM_001848.3(COL6A1):c.806G>A (p.Gly269Glu)

SNV
Germline

Chr21:45989085

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

rs_2077759104

2 SubmittersRCV001091475 RCV001862695

NM_004369.4(COL6A3):c.7748C>T (p.Thr2583Met)

SNV
Germline

Chr2:237342082

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_140021275

3 SubmittersRCV001143032 RCV001858936 RCV003145359

NM_004369.4(COL6A3):c.6622G>A (p.Ala2208Thr)

SNV
Germline

Chr2:237354904

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_398124129

2 SubmittersRCV001143145 RCV002557050

NM_004369.4(COL6A3):c.6352G>T (p.Asp2118Tyr)

SNV
Germline

Chr2:237359208

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_374476448

2 SubmittersRCV001136578 RCV001856741

NM_004369.4(COL6A3):c.5528T>C (p.Phe1843Ser)

SNV
Germline

Chr2:237366008

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_770876436

2 SubmittersRCV001143249 RCV002032357

NM_004369.4(COL6A3):c.5337G>A (p.Arg1779=)

SNV
Germline

Chr2:237366850

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_756243022

2 SubmittersRCV001136680 RCV002070591

NM_004369.4(COL6A3):c.5084A>T (p.Asp1695Val)

SNV
Germline

Chr2:237367103

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_147231661

2 SubmittersRCV001138918 RCV003517299

NM_004369.4(COL6A3):c.3810G>C (p.Arg1270=)

SNV
Germline

Chr2:237372207

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_886042792

2 SubmittersRCV001141636 RCV001402871

NM_004369.4(COL6A3):c.2665C>T (p.Arg889Cys)

SNV
Germline

Chr2:237377177

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201327438

4 SubmittersRCV001141745 RCV002557010 RCV003480972

NM_004369.4(COL6A3):c.807T>C (p.Leu269=)

SNV
Germline

Chr2:237388087

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_776357610

2 SubmittersRCV001141968 RCV001882436

NM_004369.4(COL6A3):c.619C>T (p.His207Tyr)

SNV
Germline

Chr2:237394677

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_749985039

2 SubmittersRCV001143772 RCV001202709

NM_001848.3(COL6A1):c.3014G>A (p.Arg1005His)

SNV
Germline

Chr21:46003940

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_376999117

3 SubmittersRCV001138245 RCV001882418 RCV004032321

NM_001849.4(COL6A2):c.300C>G (p.His100Gln)

SNV
Germline

Chr21:46112163

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_765941470

2 SubmittersRCV001141356 RCV001214405

NM_001849.4(COL6A2):c.565G>T (p.Ala189Ser)

SNV
Germline

Chr21:46112428

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_765361834

2 SubmittersRCV001136628 RCV001214406

NM_001849.4(COL6A2):c.620C>T (p.Thr207Met)

SNV
Germline

Chr21:46112483

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_760395633

3 SubmittersRCV001136629 RCV001546616 RCV001219858

NM_001849.4(COL6A2):c.1097G>A (p.Arg366Gln)

SNV
Germline

Chr21:46117917

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_368588676

3 SubmittersRCV001143312 RCV001882441 RCV003346334

NM_001849.4(COL6A2):c.1341T>C (p.Pro447=)

SNV
Germline

Chr21:46120523

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Myosclerosis
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_751688085

2 SubmittersRCV001136743 RCV001136742 RCV001518746

NM_001849.4(COL6A2):c.1661A>G (p.Lys554Arg)

SNV
Germline

Chr21:46122927

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_754196388

3 SubmittersRCV001143416 RCV001468388 RCV003145361

NM_001849.4(COL6A2):c.1743C>T (p.Pro581=)

SNV
Germline

Chr21:46124893

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

rs_764878153

3 SubmittersRCV001136849 RCV001482340 RCV004538357

NM_001849.4(COL6A2):c.1829G>A (p.Arg610His)

SNV
Germline

Chr21:46125477

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_758550765

4 SubmittersRCV001139089 RCV001324206 RCV001560752

NM_004369.4(COL6A3):c.6592-3C>T

SNV
Germline

Chr2:237354937

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_760143724

2 SubmittersRCV001136576 RCV002556900

NM_004369.4(COL6A3):c.4285+14G>A

SNV
Germline

Chr2:237371718

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

rs_373893821

3 SubmittersRCV001143353 RCV002070725 RCV004548026

NM_004369.4(COL6A3):c.4285+13C>T

SNV
Germline

Chr2:237371719

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_368338594

2 SubmittersRCV001143354 RCV003517301

NM_001848.3(COL6A1):c.227+11C>T

SNV
Germline

Chr21:45982774

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_371425947

2 SubmittersRCV001139937 RCV002070669

NM_001848.3(COL6A1):c.759+13C>T

SNV
Germline

Chr21:45987532

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
not specified

Criteria Provided
Conflicting Classifications

rs_1250324207

3 SubmittersRCV001137826 RCV002070616 RCV003994219

NM_001848.3(COL6A1):c.1822+11G>A

SNV
Germline

Chr21:46000778

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_566601241

2 SubmittersRCV001138045 RCV002070619

NM_004370.6(COL12A1):c.8989C>T (p.Arg2997Trp)

SNV
Germline

Chr6:75089127

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

rs_757075255

3 SubmittersRCV001194635 RCV001776138 RCV001863068

NM_004370.6(COL12A1):c.3901C>T (p.Arg1301Ter)

SNV
Germline

Chr6:75151966

Pathogenic/Likely pathogenic

Ullrich congenital muscular dystrophy 2
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1304140510

2 SubmittersRCV001194634 RCV002559231

NM_004369.4(COL6A3):c.6787C>T (p.Arg2263Ter)

SNV
Germline

Chr2:237351159

Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

rs_748966916

2 SubmittersRCV001200646 RCV002290634

NM_004369.4(COL6A3):c.5276C>G (p.Ala1759Gly)

SNV
Germline

Chr2:237366911

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_150200531

5 SubmittersRCV001200647 RCV001224175 RCV002225126 RCV004033490

NM_004369.4(COL6A3):c.5716T>C (p.Tyr1906His)

SNV
Germline

Chr2:237365820

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_148613877

2 SubmittersRCV001216135 RCV003163661

NM_004369.4(COL6A3):c.2567G>A (p.Arg856His)

SNV
Germline

Chr2:237377275

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_147897225

4 SubmittersRCV001224491 RCV001547869

NM_004369.4(COL6A3):c.2512A>T (p.Ile838Phe)

SNV
Germline

Chr2:237377330

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1455744375

2 SubmittersRCV001217982 RCV003163675

NM_004369.4(COL6A3):c.254G>A (p.Gly85Glu)

SNV
Germline

Chr2:237395042

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_369814614

3 SubmittersRCV001215986 RCV001751402

NM_004370.6(COL12A1):c.8365G>C (p.Gly2789Arg)

SNV
Germline

Chr6:75102647

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

rs_1768359621

3 SubmittersRCV001555562 RCV001220502 RCV002290644

NM_004370.6(COL12A1):c.6612T>A (p.Tyr2204Ter)

SNV
Germline

Chr6:75124367

Pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

rs_1765909471

1 SubmittersRCV001216731

NM_004370.6(COL12A1):c.4196G>A (p.Arg1399His)

SNV
Germline

Chr6:75148449

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200125060

3 SubmittersRCV001216062 RCV003145400 RCV003363174

NM_004370.6(COL12A1):c.3671G>A (p.Arg1224His)

SNV
Germline

Chr6:75152377

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_191996302

2 SubmittersRCV001216869 RCV003145401

NM_004370.6(COL12A1):c.2536G>A (p.Val846Ile)

SNV
Germline

Chr6:75175212

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_368113790

2 SubmittersRCV001224156 RCV002511060

NM_004370.6(COL12A1):c.2396G>A (p.Gly799Glu)

SNV
Germline

Chr6:75177704

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_772979149

2 SubmittersRCV001216234 RCV002561888

NM_004370.6(COL12A1):c.2173G>A (p.Ala725Thr)

SNV
Germline

Chr6:75177927

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_984509796

2 SubmittersRCV001217775 RCV001751409

NM_004370.6(COL12A1):c.1741C>T (p.Arg581Cys)

SNV
Germline

Chr6:75183200

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
not specified

Criteria Provided
Conflicting Classifications

rs_764727126

2 SubmittersRCV001220842 RCV002271631

NM_004370.6(COL12A1):c.250C>G (p.Leu84Val)

SNV
Germline

Chr6:75192296

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_770970810

2 SubmittersRCV001220350 RCV003145409

NM_001848.3(COL6A1):c.68C>T (p.Pro23Leu)

SNV
Germline

Chr21:45981918

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_775946362

2 SubmittersRCV001217320 RCV002561922

NM_001848.3(COL6A1):c.878G>T (p.Gly293Val)

SNV
Germline

Chr21:45989627

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_1603590641

1 SubmittersRCV001214461

NM_001848.3(COL6A1):c.1297C>T (p.Arg433Trp)

SNV
Germline

Chr21:45992772

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_753297152

4 SubmittersRCV001218445 RCV002281170 RCV003284068

NM_001849.4(COL6A2):c.803G>T (p.Gly268Val)

SNV
Germline

Chr21:46115873

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_397515333

1 SubmittersRCV001215835

NM_001849.4(COL6A2):c.1436C>T (p.Ala479Val)

SNV
Germline

Chr21:46121101

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_373846012

2 SubmittersRCV001215778 RCV003142156

NM_004369.4(COL6A3):c.8695A>G (p.Ile2899Val)

SNV
Germline

Chr2:237336405

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_115839474

2 SubmittersRCV001201793 RCV004033511

NM_004369.4(COL6A3):c.8584G>A (p.Val2862Ile)

SNV
Germline

Chr2:237336516

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_371745862

3 SubmittersRCV001213561 RCV003145395

NM_004369.4(COL6A3):c.8281C>T (p.Gln2761Ter)

SNV
Germline

Chr2:237340635

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2076967147

1 SubmittersRCV001208029

NM_004369.4(COL6A3):c.7612A>G (p.Ile2538Val)

SNV
Germline

Chr2:237344406

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_770214397

2 SubmittersRCV001210321 RCV003163598

NM_004369.4(COL6A3):c.7259G>A (p.Arg2420Gln)

SNV
Germline

Chr2:237344759

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_772077690

2 SubmittersRCV001213965 RCV001732073

NM_004369.4(COL6A3):c.6156G>T (p.Lys2052Asn)

SNV
Germline

Chr2:237361739

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_398124125

1 SubmittersRCV001206994

NM_004369.4(COL6A3):c.5020G>A (p.Asp1674Asn)

SNV
Germline

Chr2:237367167

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_778940391

2 SubmittersRCV001205451 RCV003142132

NM_004369.4(COL6A3):c.2879C>G (p.Ala960Gly)

SNV
Germline

Chr2:237376963

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_543253703

2 SubmittersRCV001210462 RCV003490123

NM_004370.6(COL12A1):c.6125C>A (p.Ser2042Ter)

SNV
Germline

Chr6:75130176

Pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

rs_767845062

1 SubmittersRCV001209884

NM_004370.6(COL12A1):c.4651G>A (p.Asp1551Asn)

SNV
Germline

Chr6:75145365

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_76453279

2 SubmittersRCV001209275 RCV003145381

NM_004370.6(COL12A1):c.4280G>A (p.Arg1427His)

SNV
Germline

Chr6:75148365

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1033545876

2 SubmittersRCV001203527 RCV003163536

NM_004370.6(COL12A1):c.3091C>T (p.Arg1031Cys)

SNV
Germline

Chr6:75156416

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_575168916

2 SubmittersRCV001207095 RCV003490120

NM_004370.6(COL12A1):c.1150C>T (p.Pro384Ser)

SNV
Germline

Chr6:75183992

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_370952607

3 SubmittersRCV001203584 RCV001751375

NM_001848.3(COL6A1):c.1112G>A (p.Gly371Glu)

SNV
Germline

Chr21:45991034

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2077774072

1 SubmittersRCV001208860

NM_001848.3(COL6A1):c.1790T>G (p.Leu597Trp)

SNV
Germline

Chr21:46000344

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201365474

2 SubmittersRCV001211309 RCV002562371

NM_001848.3(COL6A1):c.2062A>C (p.Lys688Gln)

SNV
Germline

Chr21:46002066

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_774361880

2 SubmittersRCV001207609 RCV004033705

NM_001848.3(COL6A1):c.3043G>A (p.Gly1015Ser)

SNV
Germline

Chr21:46003969

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_763470078

3 SubmittersRCV001205001 RCV001760167

NM_001849.4(COL6A2):c.416C>A (p.Ala139Asp)

SNV
Germline

Chr21:46112279

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_749711324

2 SubmittersRCV001210189 RCV003145382

NM_001849.4(COL6A2):c.848G>T (p.Gly283Val)

SNV
Germline

Chr21:46115918

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_886044088

1 SubmittersRCV001207655

NM_004369.4(COL6A3):c.6156+1G>T

SNV
Germline

Chr2:237361738

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_1553554298

1 SubmittersRCV001202087

NM_001848.3(COL6A1):c.738+1G>T

SNV
Germline

Chr21:45987176

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2077744287

1 SubmittersRCV001210810

NM_004370.6(COL12A1):c.8415+1G>C

SNV
Germline

Chr6:75102596

Likely pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

rs_1768356177

1 SubmittersRCV001222525

NM_004370.6(COL12A1):c.8319+1G>C

SNV
Germline

Chr6:75103756

Likely pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 2

Criteria Provided
Single Submitter

rs_1768416586

2 SubmittersRCV001221494 RCV001535747

NM_001848.3(COL6A1):c.1056+1G>T

SNV
Germline

Chr21:45990827

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_398123631

1 SubmittersRCV001217339

NM_004369.4(COL6A3):c.6998C>A (p.Thr2333Lys)

SNV
Germline

Chr2:237347838

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_557578629

2 SubmittersRCV001233465 RCV003145445

NM_004369.4(COL6A3):c.6151C>A (p.Pro2051Thr)

SNV
Germline

Chr2:237361744

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Collagen 6-related myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_370397767

3 SubmittersRCV001230299 RCV002221267 RCV003145438

NM_004369.4(COL6A3):c.4064C>T (p.Pro1355Leu)

SNV
Germline

Chr2:237371953

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_140863092

2 SubmittersRCV001229622 RCV003145435

NM_004369.4(COL6A3):c.2153A>G (p.Asn718Ser)

SNV
Germline

Chr2:237378980

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_748641277

3 SubmittersRCV001229286 RCV002563722 RCV003142190

NM_004369.4(COL6A3):c.1874G>C (p.Arg625Thr)

SNV
Germline

Chr2:237380938

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_61729841

2 SubmittersRCV001238642 RCV004034583

NM_004369.4(COL6A3):c.1597C>T (p.Arg533Cys)

SNV
Germline

Chr2:237381215

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Dystonia 27

Criteria Provided
Conflicting Classifications

rs_751952844

2 SubmittersRCV001234184 RCV002295336

NM_004370.6(COL12A1):c.5959C>T (p.Arg1987Cys)

SNV
Germline

Chr6:75130960

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200870100

2 SubmittersRCV001233868 RCV003246789

NM_004370.6(COL12A1):c.3070G>A (p.Val1024Ile)

SNV
Germline

Chr6:75156437

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200985706

3 SubmittersRCV001229258 RCV001509280

NM_004370.6(COL12A1):c.2951G>A (p.Gly984Glu)

SNV
Germline

Chr6:75165539

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376514006

3 SubmittersRCV001234765 RCV001726461

NM_004370.6(COL12A1):c.2653G>A (p.Ala885Thr)

SNV
Germline

Chr6:75175095

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_373583477

4 SubmittersRCV001230248 RCV002293514 RCV003166400

NM_004370.6(COL12A1):c.2603C>T (p.Thr868Met)

SNV
Germline

Chr6:75175145

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_572007088

3 SubmittersRCV001236510 RCV002563860 RCV003145455

NM_001849.4(COL6A2):c.2828C>G (p.Ser943Cys)

SNV
Germline

Chr21:46132320

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_372022187

2 SubmittersRCV001234767 RCV001550829

NM_001849.4(COL6A2):c.2851G>A (p.Val951Ile)

SNV
Germline

Chr21:46132343

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_111630733

2 SubmittersRCV001237578 RCV003145457

NM_004370.6(COL12A1):c.7813A>C (p.Lys2605Gln)

SNV
Germline

Chr6:75113629

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200751269

4 SubmittersRCV001239226 RCV002305578 RCV004034603

NM_004370.6(COL12A1):c.3767A>G (p.His1256Arg)

SNV
Germline

Chr6:75152199

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_199692759

4 SubmittersRCV001246276 RCV001760284 RCV004034859

NM_004370.6(COL12A1):c.189G>A (p.Thr63=)

SNV
Germline

Chr6:75194832

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_371298920

2 SubmittersRCV001240667 RCV001541234

NM_001848.3(COL6A1):c.1145C>T (p.Ala382Val)

SNV
Germline

Chr21:45992035

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_765631918

2 SubmittersRCV001248386 RCV003490157

NM_001848.3(COL6A1):c.2885C>G (p.Ala962Gly)

SNV
Germline

Chr21:46003811

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_370391371

2 SubmittersRCV001248648 RCV003166566

NM_001848.3(COL6A1):c.2896G>A (p.Gly966Ser)

SNV
Germline

Chr21:46003822

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1224432118

2 SubmittersRCV001247015 RCV002568672

NM_001849.4(COL6A2):c.817A>T (p.Met273Leu)

SNV
Germline

Chr21:46115887

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_763922121

2 SubmittersRCV001243590 RCV002564068

NM_001849.4(COL6A2):c.1846G>A (p.Val616Met)

SNV
Germline

Chr21:46125494

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_746193653

2 SubmittersRCV001239318 RCV003145459

NM_001848.3(COL6A1):c.805-2A>T

SNV
Germline

Chr21:45989082

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_398123639

1 SubmittersRCV001232954

NM_001848.3(COL6A1):c.1056+3A>C

SNV
Germline

Chr21:45990829

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2077772542

1 SubmittersRCV001226603

NM_001849.4(COL6A2):c.954+5G>C

SNV
Germline

Chr21:46116682

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_750755566

2 SubmittersRCV001237717 RCV003490147

NM_001848.3(COL6A1):c.805-2A>C

SNV
Germline

Chr21:45989082

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_398123639

1 SubmittersRCV001247116

NM_001849.4(COL6A2):c.1264G>A (p.Glu422Lys)

SNV
Germline

Chr21:46119114

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_200167715

3 SubmittersRCV001249380 RCV001751514 RCV002570398

NM_004370.6(COL12A1):c.6067+1G>A

SNV
Germline

Chr6:75130851

Conflicting classifications of pathogenicity

Inborn genetic diseases
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

rs_1766265062

2 SubmittersRCV001267560 RCV002537700

NM_004369.4(COL6A3):c.8854G>A (p.Val2952Ile)

SNV
Germline

Chr2:237336246

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_536607503

2 SubmittersRCV001302333 RCV003145533

NM_004369.4(COL6A3):c.7322G>A (p.Arg2441Gln)

SNV
Germline

Chr2:237344696

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_753090057

2 SubmittersRCV001296118 RCV003145515

NM_004369.4(COL6A3):c.4072G>A (p.Glu1358Lys)

SNV
Germline

Chr2:237371945

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_762544728

2 SubmittersRCV001301015 RCV003145529

NM_004369.4(COL6A3):c.1537C>T (p.Arg513Trp)

SNV
Germline

Chr2:237381275

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_369379463

2 SubmittersRCV001294739 RCV001760334

NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val)

SNV
Germline

Chr2:237387626

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Bethlem myopathy 1A
Dystonia 27
Ullrich congenital muscular dystrophy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_181264679

4 SubmittersRCV001301009 RCV002493588 RCV002509653 RCV002541940

NM_004370.6(COL12A1):c.1301G>A (p.Gly434Asp)

SNV
Germline

Chr6:75183640

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_759184281

2 SubmittersRCV001294404 RCV004035607

NM_001848.3(COL6A1):c.670G>A (p.Ala224Thr)

SNV
Germline

Chr21:45987025

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_569642530

2 SubmittersRCV001297101 RCV003365302

NM_001848.3(COL6A1):c.1557G>C (p.Glu519Asp)

SNV
Germline

Chr21:45998153

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_755375448

2 SubmittersRCV001294637 RCV001773598

NM_001848.3(COL6A1):c.2239C>G (p.Pro747Ala)

SNV
Germline

Chr21:46002390

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_765815035

3 SubmittersRCV001301710 RCV002539480 RCV003145530

NM_001849.4(COL6A2):c.1274G>A (p.Arg425His)

SNV
Germline

Chr21:46119792

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_773161640

2 SubmittersRCV001309228 RCV003145547

NM_001849.4(COL6A2):c.2044G>C (p.Asp682His)

SNV
Germline

Chr21:46125859

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376527297

2 SubmittersRCV001301051 RCV001760350

NM_001849.4(COL6A2):c.2518G>A (p.Gly840Ser)

SNV
Germline

Chr21:46132010

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_373862445

2 SubmittersRCV001304296 RCV002282512

NM_001849.4(COL6A2):c.2678C>T (p.Pro893Leu)

SNV
Germline

Chr21:46132170

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_779242861

3 SubmittersRCV001294736 RCV002538442 RCV003145512

NM_001848.3(COL6A1):c.887G>A (p.Gly296Glu)

SNV
Germline

Chr21:45989636

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603590649

2 SubmittersRCV001311579 RCV001810023

NM_004369.4(COL6A3):c.4226C>T (p.Thr1409Met)

SNV
Germline

Chr2:237371791

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_368928992

2 SubmittersRCV001326405 RCV002546177

NM_004369.4(COL6A3):c.3196C>T (p.Arg1066Cys)

SNV
Germline

Chr2:237374895

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_774406266

3 SubmittersRCV001321792 RCV003324825 RCV004035041

NM_004369.4(COL6A3):c.1373T>A (p.Leu458Gln)

SNV
Germline

Chr2:237381439

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_374134397

4 SubmittersRCV001313188 RCV002267105 RCV002545054

NM_001848.3(COL6A1):c.1330G>C (p.Asp444His)

SNV
Germline

Chr21:45992805

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_778234022

3 SubmittersRCV001320120 RCV003135968 RCV004034997

NM_001848.3(COL6A1):c.3013C>T (p.Arg1005Cys)

SNV
Germline

Chr21:46003939

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_780139552

3 SubmittersRCV001323320 RCV002545123 RCV003151852

NM_001848.3(COL6A1):c.3077C>T (p.Ala1026Val)

SNV
Germline

Chr21:46004003

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_767414809

2 SubmittersRCV001312268 RCV003490180

NM_004369.4(COL6A3):c.7975C>T (p.Gln2659Ter)

SNV
Unknown

Chr2:237340941

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2076974450

1 SubmittersRCV001331208

NM_001848.3(COL6A1):c.1960G>A (p.Glu654Lys)

SNV
Germline

Chr21:46001964

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_375318905

4 SubmittersRCV001328887 RCV002546283 RCV003145576

NM_004369.4(COL6A3):c.3653C>T (p.Pro1218Leu)

SNV
Germline

Chr2:237374438

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_75071027

2 SubmittersRCV001345474 RCV002264273

NM_004369.4(COL6A3):c.2998C>T (p.Pro1000Ser)

SNV
Germline

Chr2:237376844

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

rs_762584015

3 SubmittersRCV001350637 RCV003145604 RCV004548194

NM_004369.4(COL6A3):c.2965T>C (p.Ser989Pro)

SNV
Germline

Chr2:237376877

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_758482171

2 SubmittersRCV001337867 RCV003145581

NM_004369.4(COL6A3):c.2302C>T (p.Arg768Cys)

SNV
Germline

Chr2:237378831

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200722892

2 SubmittersRCV001337257 RCV002546811

NM_004369.4(COL6A3):c.625A>G (p.Ile209Val)

SNV
Germline

Chr2:237394671

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_751370730

2 SubmittersRCV001343855 RCV004036408

NM_004370.6(COL12A1):c.7432C>T (p.Arg2478Trp)

SNV
Germline

Chr6:75117469

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
COL12A1-related disorder

Criteria Provided
Conflicting Classifications

rs_769219928

3 SubmittersRCV001348049 RCV001558468 RCV003416246

NM_004370.6(COL12A1):c.6549T>A (p.Asn2183Lys)

SNV
Germline

Chr6:75125185

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_776701367

2 SubmittersRCV001349131 RCV003490211

NM_004370.6(COL12A1):c.6427G>C (p.Val2143Leu)

SNV
Germline

Chr6:75126384

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_186836845

3 SubmittersRCV001344574 RCV001556940

NM_004370.6(COL12A1):c.4781G>A (p.Arg1594His)

SNV
Germline

Chr6:75143298

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_373006852

3 SubmittersRCV001352429 RCV001580593

NM_004370.6(COL12A1):c.3952G>A (p.Ala1318Thr)

SNV
Germline

Chr6:75151915

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_41269309

3 SubmittersRCV001339229 RCV001587359

NM_001848.3(COL6A1):c.739-5C>G

SNV
Germline

Chr21:45987494

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_369946755

2 SubmittersRCV001345230 RCV003145595

NM_001848.3(COL6A1):c.1402G>A (p.Glu468Lys)

SNV
Germline

Chr21:45997424

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1467389704

2 SubmittersRCV001338751 RCV003169598

NM_001849.4(COL6A2):c.1360G>A (p.Gly454Ser)

SNV
Germline

Chr21:46120542

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1035908319

3 SubmittersRCV001349361 RCV001780263 RCV004036581

NM_004369.4(COL6A3):c.7646G>A (p.Arg2549Gln)

SNV
Germline

Chr2:237344372

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_115863049

2 SubmittersRCV001360881 RCV003145612

NM_004369.4(COL6A3):c.5234A>G (p.Gln1745Arg)

SNV
Germline

Chr2:237366953

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_756781502

3 SubmittersRCV001363077 RCV003145618

NM_004369.4(COL6A3):c.3280G>A (p.Ala1094Thr)

SNV
Germline

Chr2:237374811

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_369460632

2 SubmittersRCV001361634 RCV001751709

NM_004369.4(COL6A3):c.1831G>A (p.Ala611Thr)

SNV
Germline

Chr2:237380981

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_372255458

2 SubmittersRCV001373162 RCV002550169

NM_004370.6(COL12A1):c.8563C>T (p.Pro2855Ser)

SNV
Germline

Chr6:75097267

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1226171594

2 SubmittersRCV001362991 RCV003145617

NM_004370.6(COL12A1):c.7331C>T (p.Ala2444Val)

SNV
Germline

Chr6:75119066

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_367980407

2 SubmittersRCV001359003 RCV003145609

NM_004370.6(COL12A1):c.5771G>A (p.Arg1924His)

SNV
Germline

Chr6:75133316

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

rs_751986784

2 SubmittersRCV001776231 RCV001373011

NM_004370.6(COL12A1):c.5510G>A (p.Gly1837Glu)

SNV
Germline

Chr6:75134740

Conflicting classifications of pathogenicity

Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_757825778

3 SubmittersRCV001362217 RCV001751712 RCV004036831

NM_004370.6(COL12A1):c.2746A>G (p.Ile916Val)

SNV
Germline

Chr6:75165744

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200819563

2 SubmittersRCV001367330 RCV002548593

NM_004370.6(COL12A1):c.2410T>G (p.Leu804Val)

SNV
Germline

Chr6:75177690

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_769631929

2 SubmittersRCV001372983 RCV003145642

NM_001848.3(COL6A1):c.1834G>A (p.Gly612Ser)

SNV
Germline

Chr21:46001264

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_760265069

2 SubmittersRCV001369235 RCV003145635

NM_001849.4(COL6A2):c.1973C>T (p.Thr658Met)

SNV
Germline

Chr21:46125788

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_758788067

2 SubmittersRCV001368510 RCV003145632

NM_001849.4(COL6A2):c.2234G>A (p.Arg745Gln)

SNV
Germline

Chr21:46126049

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_768280699

4 SubmittersRCV001359136 RCV001779158

NM_004370.6(COL12A1):c.6872-2A>G

SNV
Germline

Chr6:75123406

Likely pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

rs_2149372690

1 SubmittersRCV001378005

NM_001849.4(COL6A2):c.785G>T (p.Gly262Val)

SNV
Germline

Chr21:46114057

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_886042943

1 SubmittersRCV001378897

NM_001849.4(COL6A2):c.1053+2T>G

SNV
Germline

Chr21:46117455

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2123631474

1 SubmittersRCV001379805

NM_001849.4(COL6A2):c.1817-2A>G

SNV
Germline

Chr21:46125463

Pathogenic/Likely pathogenic

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_111697581

2 SubmittersRCV001379668 RCV001780298

NM_001849.4(COL6A2):c.1861G>C (p.Asp621His)

SNV
Germline

Chr21:46125509

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_267606750

1 SubmittersRCV001378718

NM_004369.4(COL6A3):c.6283-1G>A

SNV
Germline

Chr2:237359389

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2106341460

1 SubmittersRCV001389458

NM_004369.4(COL6A3):c.2362C>T (p.Gln788Ter)

SNV
Germline

Chr2:237378771

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_948586287

1 SubmittersRCV001390985

NM_001848.3(COL6A1):c.823G>A (p.Gly275Arg)

SNV
Germline

Chr21:45989102

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_1556425467

1 SubmittersRCV001384957

NM_001848.3(COL6A1):c.877G>C (p.Gly293Arg)

SNV
Germline

Chr21:45989626

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_398123643

1 SubmittersRCV001390509

NM_001848.3(COL6A1):c.1318G>T (p.Gly440Ter)

SNV
Germline

Chr21:45992793

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2123475539

1 SubmittersRCV001387069

NM_001849.4(COL6A2):c.954G>C (p.Lys318Asn)

SNV
Germline

Chr21:46116677

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_878854362

1 SubmittersRCV001386985

NM_001849.4(COL6A2):c.955-1G>C

SNV
Germline

Chr21:46116769

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_886044265

1 SubmittersRCV001384346

NM_001849.4(COL6A2):c.1053+2T>A

SNV
Germline

Chr21:46117455

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2123631474

1 SubmittersRCV001385805

NM_001849.4(COL6A2):c.2023C>T (p.Gln675Ter)

SNV
Germline

Chr21:46125838

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_1293736497

1 SubmittersRCV001382153

NM_004370.6(COL12A1):c.4288-5C>T

SNV
Germline

Chr6:75147809

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_544779989

3 SubmittersRCV001418367 RCV001577606

NM_004370.6(COL12A1):c.9186C>T (p.Ser3062=)

SNV
Germline

Chr6:75086553

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_375094592

2 SubmittersRCV001424283 RCV001555923

NM_004369.4(COL6A3):c.7608G>A (p.Ala2536=)

SNV
Germline

Chr2:237344410

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_749750613

2 SubmittersRCV001455913 RCV003145667

NM_004369.4(COL6A3):c.4828A>G (p.Met1610Val)

SNV
Germline

Chr2:237368635

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_778808432

2 SubmittersRCV001458678 RCV003145668

NM_004369.4(COL6A3):c.2745C>T (p.Asn915=)

SNV
Germline

Chr2:237377097

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_749992393

2 SubmittersRCV001487046 RCV003145672

NM_004370.6(COL12A1):c.6608-4G>A

SNV
Germline

Chr6:75124375

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_374995108

2 SubmittersRCV001504617 RCV003145674

NM_004370.6(COL12A1):c.6256C>A (p.Gln2086Lys)

SNV
Germline

Chr6:75128380

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_562076616

2 SubmittersRCV001484814 RCV002285486

NM_004370.6(COL12A1):c.441C>T (p.Gly147=)

SNV
Germline

Chr6:75189769

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_370007721

2 SubmittersRCV001505369 RCV003145675

NM_004369.4(COL6A3):c.5589C>T (p.Asp1863=)

SNV
Germline

Chr2:237365947

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

rs_144592806

4 SubmittersRCV001531519 RCV002070382 RCV004550302

NM_001849.4(COL6A2):c.439C>T (p.Gln147Ter)

SNV
Germline

Chr21:46112302

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2123615453

1 SubmittersRCV002464464

NM_004370.6(COL12A1):c.9104G>A (p.Arg3035Gln)

SNV
Germline

Chr6:75087654

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

rs_749005420

2 SubmittersRCV001570336 RCV001866023

NM_001848.3(COL6A1):c.2710G>A (p.Val904Ile)

SNV
Germline

Chr21:46003636

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_375831680

3 SubmittersRCV001592277 RCV001882736

NM_004370.6(COL12A1):c.5677G>A (p.Gly1893Arg)

SNV
Germline

Chr6:75133410

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2

Criteria Provided
Conflicting Classifications

rs_373739940

3 SubmittersRCV001592436 RCV001866218

NM_001849.4(COL6A2):c.287A>G (p.Tyr96Cys)

SNV
Germline

Chr21:46112150

Conflicting classifications of pathogenicity

Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_2078408746

2 SubmittersRCV001730010

NM_001849.4(COL6A2):c.1868C>T (p.Ser623Phe)

SNV
Unknown

Chr21:46125516

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2123661865

1 SubmittersRCV001730011

NM_004370.6(COL12A1):c.7472A>G (p.Lys2491Arg)

SNV
Germline

Chr6:75117429

Conflicting classifications of pathogenicity

Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

rs_199633490

2 SubmittersRCV001730144 RCV002538698

NM_001848.3(COL6A1):c.2476T>A (p.Ser826Thr)

SNV
Germline

Chr21:46003402

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_1427066240

3 SubmittersRCV001732966 RCV002543903

NM_004369.4(COL6A3):c.3617C>T (p.Thr1206Ile)

SNV
Germline

Chr2:237374474

Conflicting classifications of pathogenicity

not specified
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_949598599

3 SubmittersRCV001733611 RCV002032735 RCV003136129

NM_004369.4(COL6A3):c.5395G>A (p.Val1799Met)

SNV
Germline

Chr2:237366792

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_768420468

3 SubmittersRCV001763415 RCV002540341

NM_004369.4(COL6A3):c.2269G>A (p.Asp757Asn)

SNV
Germline

Chr2:237378864

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_544229002

2 SubmittersRCV001767000 RCV002032842

NM_004369.4(COL6A3):c.1571A>G (p.Tyr524Cys)

SNV
Germline

Chr2:237381241

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_147546808

2 SubmittersRCV001768909 RCV002543996

NM_001848.3(COL6A1):c.2926C>T (p.Arg976Cys)

SNV
Germline

Chr21:46003852

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_376061269

2 SubmittersRCV001758852 RCV001868509

NM_001848.3(COL6A1):c.2444G>T (p.Cys815Phe)

SNV
Germline

Chr21:46003129

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_536370523

2 SubmittersRCV001761127 RCV001885030

NM_001849.4(COL6A2):c.2138G>T (p.Arg713Leu)

SNV
Germline

Chr21:46125953

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_746159648

2 SubmittersRCV001769234 RCV002540492

NM_004370.6(COL12A1):c.3943G>A (p.Asp1315Asn)

SNV
Germline

Chr6:75151924

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

rs_185615367

2 SubmittersRCV001755249 RCV001885079

NM_004370.6(COL12A1):c.1883A>G (p.Lys628Arg)

SNV
Germline

Chr6:75183058

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

rs_752689011

2 SubmittersRCV001758998 RCV001868703

NM_004370.6(COL12A1):c.2519A>G (p.Lys840Arg)

SNV
Germline

Chr6:75175229

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

rs_1357325121

2 SubmittersRCV001753376 RCV002540693

NM_004370.6(COL12A1):c.2957C>G (p.Pro986Arg)

SNV
Germline

Chr6:75165533

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

rs_752812483

3 SubmittersRCV001755624 RCV001868762

NM_004370.6(COL12A1):c.5896G>A (p.Val1966Ile)

SNV
Germline

Chr6:75131981

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

rs_1244436929

4 SubmittersRCV001769624 RCV001868692

NM_004370.6(COL12A1):c.2885T>C (p.Ile962Thr)

SNV
Germline

Chr6:75165605

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

rs_746982506

3 SubmittersRCV001753317 RCV002540680

NM_004370.6(COL12A1):c.2693A>G (p.Glu898Gly)

SNV
Germline

Chr6:75175055

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

rs_1180402350

3 SubmittersRCV001753347 RCV001885097

NM_004370.6(COL12A1):c.4463C>A (p.Thr1488Asn)

SNV
Germline

Chr6:75146199

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

rs_771864984

2 SubmittersRCV001776823 RCV002034524

NM_001848.3(COL6A1):c.1056+1G>C

SNV
Germline

Chr21:45990827

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

rs_398123631

2 SubmittersRCV001780557 RCV002541114

NM_001848.3(COL6A1):c.1166G>C (p.Gly389Ala)

SNV
Germline

Chr21:45992056

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_2123474665

2 SubmittersRCV001780840 RCV002034583

NM_004369.4(COL6A3):c.6211G>T (p.Gly2071Cys)

SNV
Germline

Chr2:237360159

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_2106342311

2 SubmittersRCV001780851 RCV002541184

NM_004369.4(COL6A3):c.6489C>G (p.Asp2163Glu)

SNV
Germline

Chr2:237357865

Conflicting classifications of pathogenicity

Tip-toe gait
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_758376967

2 SubmittersRCV001795814 RCV002544336

NM_004369.4(COL6A3):c.3382A>G (p.Ile1128Val)

SNV
Germline

Chr2:237374709

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_372844024

2 SubmittersRCV001816296 RCV001869644

NM_004370.6(COL12A1):c.1318G>A (p.Asp440Asn)

SNV
Germline

Chr6:75183623

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

rs_563331592

2 SubmittersRCV001823369 RCV003772343

NM_001848.3(COL6A1):c.930+1G>T

SNV
Germline

Chr21:45989779

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_886042902

1 SubmittersRCV001823612

NM_004370.6(COL12A1):c.3785T>C (p.Leu1262Ser)

SNV
Germline

Chr6:75152181

Conflicting classifications of pathogenicity

Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_774035582

3 SubmittersRCV001823699 RCV001869823 RCV003146247

NM_004370.6(COL12A1):c.3161G>A (p.Arg1054Gln)

SNV
Germline

Chr6:75156346

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_577784031

3 SubmittersRCV002034779 RCV002034780 RCV003163997

NM_004370.6(COL12A1):c.1678C>A (p.Pro560Thr)

SNV
Germline

Chr6:75183263

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_775466928

3 SubmittersRCV001930228 RCV003487812 RCV004040371

NM_004370.6(COL12A1):c.634T>C (p.Tyr212His)

SNV
Germline

Chr6:75189576

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1424010902

2 SubmittersRCV002004564 RCV002563544

NM_001849.4(COL6A2):c.2946G>A (p.Met982Ile)

SNV
Germline

Chr21:46132438

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

rs_753423696

2 SubmittersRCV002286861 RCV002002095

NM_004369.4(COL6A3):c.4286-2A>G

SNV
Germline

Chr2:237369179

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_761453030

1 SubmittersRCV002028012

NM_004370.6(COL12A1):c.6829C>G (p.Pro2277Ala)

SNV
Germline

Chr6:75123990

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_758182752

2 SubmittersRCV002028052 RCV003146497

NM_004369.4(COL6A3):c.6309+1G>C

SNV
Germline

Chr2:237359361

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_886043919

1 SubmittersRCV002039049

NM_001849.4(COL6A2):c.681C>G (p.Asp227Glu)

SNV
Germline

Chr21:46112544

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1355259368

2 SubmittersRCV001974932 RCV003146390

NM_004369.4(COL6A3):c.4424T>C (p.Val1475Ala)

SNV
Germline

Chr2:237369039

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1216842831

2 SubmittersRCV001984406 RCV002243503

NM_004370.6(COL12A1):c.8265+1G>A

SNV
Germline

Chr6:75105205

Likely pathogenic

Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2

Criteria Provided
Single Submitter

rs_2149347624

1 SubmittersRCV001966406

NM_004370.6(COL12A1):c.4402G>A (p.Gly1468Arg)

SNV
Germline

Chr6:75147690

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_771110521

3 SubmittersRCV001864237 RCV003322897 RCV002547968

NM_004370.6(COL12A1):c.8609C>T (p.Pro2870Leu)

SNV
Germline

Chr6:75095148

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_751638930

2 SubmittersRCV001894262 RCV003146270

NM_004369.4(COL6A3):c.4880C>A (p.Thr1627Asn)

SNV
Germline

Chr2:237368583

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_149261556

3 SubmittersRCV001881407 RCV003136252

NM_001849.4(COL6A2):c.288C>A (p.Tyr96Ter)

SNV
Germline

Chr21:46112151

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_61735833

1 SubmittersRCV001994541

NM_001849.4(COL6A2):c.802G>C (p.Gly268Arg)

SNV
Germline

Chr21:46115872

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2123625485

1 SubmittersRCV001985802

NM_004370.6(COL12A1):c.7024G>A (p.Val2342Ile)

SNV
Germline

Chr6:75121364

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

rs_745852751

2 SubmittersRCV001917633

NM_004370.6(COL12A1):c.5957C>T (p.Thr1986Met)

SNV
Germline

Chr6:75130962

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_768824483

3 SubmittersRCV001930643 RCV003146351

NM_001849.4(COL6A2):c.3037C>T (p.Arg1013Cys)

SNV
Germline

Chr21:46132529

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_762516507

2 SubmittersRCV001953388 RCV003146395

NM_004370.6(COL12A1):c.4418-1G>A

SNV
Germline

Chr6:75146245

Likely pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

rs_984784417

1 SubmittersRCV002014265

NM_004369.4(COL6A3):c.8866G>A (p.Ala2956Thr)

SNV
Germline

Chr2:237336234

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_773820329

2 SubmittersRCV001882913 RCV003146292

NM_001849.4(COL6A2):c.884G>T (p.Gly295Val)

SNV
Germline

Chr21:46116037

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2123626138

1 SubmittersRCV001950810

NM_004370.6(COL12A1):c.5140C>G (p.Leu1714Val)

SNV
Germline

Chr6:75138538

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_753254039

2 SubmittersRCV001992031 RCV003146466

NM_001848.3(COL6A1):c.1674+1G>A

SNV
Germline

Chr21:45998960

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2123484131

1 SubmittersRCV001969246

NM_001849.4(COL6A2):c.856G>A (p.Gly286Arg)

SNV
Germline

Chr21:46116009

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2123626018

1 SubmittersRCV001966825

NM_004369.4(COL6A3):c.7255G>A (p.Gly2419Ser)

SNV
Germline

Chr2:237344763

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_749446863

2 SubmittersRCV002010628 RCV003138027

NM_001849.4(COL6A2):c.821G>A (p.Gly274Asp)

SNV
Germline

Chr21:46115891

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2123625569

1 SubmittersRCV002033244

NM_001848.3(COL6A1):c.244C>T (p.Arg82Ter)

SNV
Germline

Chr21:45984285

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_1422385556

1 SubmittersRCV001879674

NM_001849.4(COL6A2):c.884G>A (p.Gly295Glu)

SNV
Germline

Chr21:46116037

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2123626138

1 SubmittersRCV001992543

NM_001848.3(COL6A1):c.2366T>C (p.Val789Ala)

SNV
Germline

Chr21:46002642

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_762499313

2 SubmittersRCV001916755 RCV002557881

NM_004370.6(COL12A1):c.19C>G (p.Pro7Ala)

SNV
Germline

Chr6:75202774

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_755046298

2 SubmittersRCV001896512 RCV003264200

NM_004369.4(COL6A3):c.3808C>T (p.Arg1270Trp)

SNV
Germline

Chr2:237372209

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_781735632

2 SubmittersRCV001898236 RCV003136267

NM_001849.4(COL6A2):c.736-1G>A

SNV
Germline

Chr21:46114007

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_1601221868

1 SubmittersRCV001958972

NM_004370.6(COL12A1):c.385G>A (p.Glu129Lys)

SNV
Germline

Chr6:75191710

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_978290681

2 SubmittersRCV001915824 RCV003146337

NM_004369.4(COL6A3):c.7648C>T (p.Gln2550Ter)

SNV
Germline

Chr2:237344370

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2106324666

1 SubmittersRCV001930126

NM_004370.6(COL12A1):c.1171G>T (p.Val391Phe)

SNV
Germline

Chr6:75183971

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_565496900

2 SubmittersRCV001874659 RCV003146284

NM_004370.6(COL12A1):c.5134G>A (p.Glu1712Lys)

SNV
Germline

Chr6:75138544

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
COL12A1-related disorder

Criteria Provided
Conflicting Classifications

rs_778415707

3 SubmittersRCV001988629 RCV003146454 RCV003958459

NM_001849.4(COL6A2):c.2099G>A (p.Gly700Asp)

SNV
Germline

Chr21:46125914

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2078657536

2 SubmittersRCV001988635

NM_004369.4(COL6A3):c.865G>T (p.Glu289Ter)

SNV
Germline

Chr2:237388029

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_767654047

1 SubmittersRCV001972120

NM_004369.4(COL6A3):c.8231C>T (p.Thr2744Met)

SNV
Germline

Chr2:237340685

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_373680762

3 SubmittersRCV001891413 RCV002260712

NM_004369.4(COL6A3):c.1940C>A (p.Ser647Ter)

SNV
Germline

Chr2:237379193

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2106367443

1 SubmittersRCV002007195

NM_004370.6(COL12A1):c.4616C>A (p.Thr1539Lys)

SNV
Germline

Chr6:75145400

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_373216375

2 SubmittersRCV001922530 RCV003146320

NM_001848.3(COL6A1):c.913G>C (p.Gly305Arg)

SNV
Germline

Chr21:45989761

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_1469287281

1 SubmittersRCV001991241

NM_001848.3(COL6A1):c.920G>A (p.Arg307His)

SNV
Germline

Chr21:45989768

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_145838277

2 SubmittersRCV001984905 RCV003289262

NM_004369.4(COL6A3):c.3733G>A (p.Gly1245Arg)

SNV
Germline

Chr2:237372284

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_150548221

2 SubmittersRCV001998404 RCV002573476

NM_004370.6(COL12A1):c.2633A>G (p.Gln878Arg)

SNV
Germline

Chr6:75175115

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_761818931

2 SubmittersRCV001906163 RCV003289193

NM_004369.4(COL6A3):c.9384G>A (p.Trp3128Ter)

SNV
Germline

Chr2:237325669

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_1405374416

1 SubmittersRCV001994492

NM_004369.4(COL6A3):c.8660C>T (p.Thr2887Ile)

SNV
Germline

Chr2:237336440

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_765812583

2 SubmittersRCV001917961 RCV002555615

NM_001849.4(COL6A2):c.2133C>A (p.Tyr711Ter)

SNV
Germline

Chr21:46125948

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_531816975

1 SubmittersRCV001939501

NM_001848.3(COL6A1):c.1226C>T (p.Ala409Val)

SNV
Germline

Chr21:45992207

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_765826390

2 SubmittersRCV001989105 RCV003146460

NM_004370.6(COL12A1):c.5664+1G>A

SNV
Germline

Chr6:75133857

Likely pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

rs_1766437216

1 SubmittersRCV001986702

NM_001848.3(COL6A1):c.931G>T (p.Gly311Cys)

SNV
Germline

Chr21:45990258

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2123471915

1 SubmittersRCV001900636

NM_004370.6(COL12A1):c.8101-1G>T

SNV
Germline

Chr6:75106497

Likely pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

rs_2149349312

1 SubmittersRCV002036271

NM_001849.4(COL6A2):c.2341C>T (p.Gln781Ter)

SNV
Germline

Chr21:46126156

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2123664803

1 SubmittersRCV001894141

NM_001849.4(COL6A2):c.784G>T (p.Gly262Cys)

SNV
Germline

Chr21:46114056

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2123620765

1 SubmittersRCV001991396

NM_001848.3(COL6A1):c.2560C>T (p.Arg854Cys)

SNV
Germline

Chr21:46003486

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_771987341

3 SubmittersRCV001948185 RCV002560582 RCV003136326

NM_001849.4(COL6A2):c.2995G>T (p.Glu999Ter)

SNV
Germline

Chr21:46132487

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_142296092

1 SubmittersRCV001949448

NM_004369.4(COL6A3):c.2937C>A (p.Asp979Glu)

SNV
Germline

Chr2:237376905

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_763515820

2 SubmittersRCV002041878 RCV003146257

NM_001849.4(COL6A2):c.2465T>C (p.Leu822Pro)

SNV
Germline

Chr21:46131957

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1243558040

2 SubmittersRCV001890062 RCV003136241

NM_001849.4(COL6A2):c.954+1G>C

SNV
Germline

Chr21:46116678

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2123628251

1 SubmittersRCV002031960

NM_004369.4(COL6A3):c.3400C>T (p.Gln1134Ter)

SNV
Germline

Chr2:237374691

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2106361236

1 SubmittersRCV001951341

NM_001849.4(COL6A2):c.802G>A (p.Gly268Ser)

SNV
Germline

Chr21:46115872

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2123625485

1 SubmittersRCV001951458

NM_004370.6(COL12A1):c.4980C>G (p.Asn1660Lys)

SNV
Germline

Chr6:75138939

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_368481619

3 SubmittersRCV002029697 RCV002290839

NM_001849.4(COL6A2):c.338G>A (p.Ser113Asn)

SNV
Germline

Chr21:46112201

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_770387211

2 SubmittersRCV001892104 RCV004041170

NM_001848.3(COL6A1):c.2260G>A (p.Val754Met)

SNV
Germline

Chr21:46002536

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_774657642

2 SubmittersRCV001899181 RCV003146334

NM_001849.4(COL6A2):c.2476C>T (p.Gln826Ter)

SNV
Germline

Chr21:46131968

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2123454401

1 SubmittersRCV001963118

NM_001849.4(COL6A2):c.1332+2T>C

SNV
Germline

Chr21:46119852

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2078532687

1 SubmittersRCV001918252

NM_004369.4(COL6A3):c.8317G>A (p.Gly2773Ser)

SNV
Germline

Chr2:237340599

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
See cases
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_756294311

3 SubmittersRCV001934892 RCV002252713 RCV003375384

NM_001848.3(COL6A1):c.316A>G (p.Met106Val)

SNV
Germline

Chr21:45984357

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1365404018

2 SubmittersRCV001895196 RCV003264173

NM_004370.6(COL12A1):c.7801G>T (p.Asp2601Tyr)

SNV
Germline

Chr6:75113641

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_757556640

2 SubmittersRCV002001907 RCV003223740

NM_004369.4(COL6A3):c.8825C>T (p.Ala2942Val)

SNV
Germline

Chr2:237336275

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_757146083

2 SubmittersRCV001896336 RCV003146312

NM_004370.6(COL12A1):c.8714G>A (p.Arg2905Gln)

SNV
Germline

Chr6:75091361

Conflicting classifications of pathogenicity

Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_759065663

2 SubmittersRCV001886170 RCV003328683

NM_001849.4(COL6A2):c.2434G>A (p.Val812Met)

SNV
Germline

Chr21:46126514

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
not specified

Criteria Provided
Conflicting Classifications

rs_746393019

2 SubmittersRCV001909362 RCV002469428

NM_004370.6(COL12A1):c.5483C>T (p.Pro1828Leu)

SNV
Germline

Chr6:75134767

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_373011926

2 SubmittersRCV001994922 RCV003170200

NM_004369.4(COL6A3):c.5035G>A (p.Gly1679Arg)

SNV
Germline

Chr2:237367152

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2106350905

1 SubmittersRCV002027068

NM_004370.6(COL12A1):c.9064C>T (p.Pro3022Ser)

SNV
Germline

Chr6:75087694

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200901687

3 SubmittersRCV001980994 RCV003146461

NM_001849.4(COL6A2):c.2548C>T (p.His850Tyr)

SNV
Germline

Chr21:46132040

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_374166613

2 SubmittersRCV002091297 RCV002993481

NM_001849.4(COL6A2):c.2817C>T (p.His939=)

SNV
Germline

Chr21:46132309

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_368164391

2 SubmittersRCV002082607 RCV003146505

NM_004370.6(COL12A1):c.9072C>T (p.Gly3024=)

SNV
Germline

Chr6:75087686

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_572512247

2 SubmittersRCV002172150 RCV003146506

NM_004369.4(COL6A3):c.3105T>C (p.Asp1035=)

SNV
Germline

Chr2:237374986

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2077798088

2 SubmittersRCV002153624 RCV003138094

NM_001848.3(COL6A1):c.1433G>A (p.Arg478Gln)

SNV
Germline

Chr21:45997455

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_776914710

3 SubmittersRCV002222815 RCV003517355 RCV004047200

NM_004370.6(COL12A1):c.5765G>A (p.Gly1922Glu)

SNV
Germline

Chr6:75133322

Likely pathogenic

Bethlem myopathy 2

Criteria Provided
Single Submitter

rs_1766404539

1 SubmittersRCV002227870

NM_001849.4(COL6A2):c.855+1G>T

SNV
Germline

Chr21:46115926

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_1057517988

1 SubmittersRCV002227873

NM_004370.6(COL12A1):c.1216G>A (p.Ala406Thr)

SNV
Germline

Chr6:75183926

Conflicting classifications of pathogenicity

not specified
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

rs_377285294

2 SubmittersRCV002247995 RCV003093986

NM_001849.4(COL6A2):c.1053+2T>C

SNV
Germline

Chr21:46117455

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

rs_2123631474

1 SubmittersRCV002249827

NM_004369.4(COL6A3):c.6283-2A>G

SNV
Unknown

Chr2:237359390

Pathogenic

Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Single Submitter

rs_797044988

1 SubmittersRCV002254381

NM_001849.4(COL6A2):c.955-2A>C

SNV
Unknown

Chr21:46116768

Pathogenic

Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Single Submitter

rs_1555873084

1 SubmittersRCV002254414

NM_004370.6(COL12A1):c.7697+1G>C

SNV
Germline

Chr6:75115783

Likely pathogenic

Bethlem myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV002289033

NM_004369.4(COL6A3):c.6967G>A (p.Gly2323Ser)

SNV
Germline

Chr2:237347869

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV002289292

NM_004370.6(COL12A1):c.4181C>G (p.Ser1394Cys)

SNV
Germline

Chr6:75148464

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002300800 RCV003097870

NM_004370.6(COL12A1):c.7525C>G (p.Pro2509Ala)

SNV
Germline

Chr6:75116052

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002462487 RCV003103128

NM_004369.4(COL6A3):c.8626C>G (p.Pro2876Ala)

SNV
Germline

Chr2:237336474

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002464750 RCV003103174

NM_001848.3(COL6A1):c.1123G>A (p.Glu375Lys)

SNV
Germline

Chr21:45992013

Conflicting classifications of pathogenicity

Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002466961

NM_004370.6(COL12A1):c.1619A>G (p.Asn540Ser)

SNV
Germline

Chr6:75183322

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

4 SubmittersRCV002508513 RCV003775554 RCV004064273

NM_004370.6(COL12A1):c.5269C>T (p.Arg1757Ter)

SNV
Germline

Chr6:75137562

Pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV003060061

NM_004370.6(COL12A1):c.3371C>T (p.Thr1124Met)

SNV
Germline

Chr6:75155734

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003037206 RCV003225248

NM_001849.4(COL6A2):c.875G>A (p.Gly292Asp)

SNV
Germline

Chr21:46116028

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV003064640

NM_001849.4(COL6A2):c.927+5G>A

SNV
Germline

Chr21:46116408

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV003050571

NM_001848.3(COL6A1):c.2554G>A (p.Ala852Thr)

SNV
Germline

Chr21:46003480

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003074052 RCV003274182 RCV003143454

NM_004369.4(COL6A3):c.9046G>C (p.Gly3016Arg)

SNV
Germline

Chr2:237334809

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003068009 RCV004070309

NM_004369.4(COL6A3):c.6283-15C>A

SNV
Germline

Chr2:237359403

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV003071183

NM_004369.4(COL6A3):c.5605A>G (p.Ile1869Val)

SNV
Germline

Chr2:237365931

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003091048 RCV004546762

NM_004369.4(COL6A3):c.4493C>T (p.Pro1498Leu)

SNV
Germline

Chr2:237368970

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002582195 RCV004068763

NM_004370.6(COL12A1):c.4679G>A (p.Arg1560Gln)

SNV
Germline

Chr6:75145337

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003073479 RCV003081974

NM_004369.4(COL6A3):c.5992C>T (p.Arg1998Ter)

SNV
Germline

Chr2:237363324

Pathogenic/Likely pathogenic

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002615961 RCV003443130

NM_004370.6(COL12A1):c.3902G>A (p.Arg1301Gln)

SNV
Germline

Chr6:75151965

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002619754 RCV003143508

NM_004369.4(COL6A3):c.7162+1G>A

SNV
Germline

Chr2:237345057

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV002664288

NM_004369.4(COL6A3):c.6221G>A (p.Gly2074Asp)

SNV
Germline

Chr2:237360149

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV002651627

NM_004370.6(COL12A1):c.6125C>T (p.Ser2042Leu)

SNV
Germline

Chr6:75130176

Conflicting classifications of pathogenicity

Inborn genetic diseases
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003377911 RCV002651233

NM_001848.3(COL6A1):c.543C>G (p.His181Gln)

SNV
Germline

Chr21:45986640

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003112624 RCV003140247 RCV004245910

NM_001849.4(COL6A2):c.2638C>A (p.Leu880Met)

SNV
Germline

Chr21:46132130

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003143583 RCV003118893

NM_004370.6(COL12A1):c.5737G>A (p.Val1913Ile)

SNV
Germline

Chr6:75133350

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002589067 RCV003146585

NM_001849.4(COL6A2):c.2894G>A (p.Arg965His)

SNV
Germline

Chr21:46132386

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002627325 RCV003146596

NM_004369.4(COL6A3):c.8075A>G (p.Tyr2692Cys)

SNV
Germline

Chr2:237340841

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002658174 RCV002658175

NM_004369.4(COL6A3):c.6967-2A>G

SNV
Germline

Chr2:237347871

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV002643422

NM_001848.3(COL6A1):c.2333C>T (p.Ala778Val)

SNV
Germline

Chr21:46002609

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002761652 RCV004067959

NM_004369.4(COL6A3):c.5924G>A (p.Arg1975His)

SNV
Germline

Chr2:237363392

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003146623 RCV002794973

NM_001848.3(COL6A1):c.1056+2T>A

SNV
Germline

Chr21:45990828

Pathogenic/Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002766738

NM_001848.3(COL6A1):c.2846G>A (p.Gly949Asp)

SNV
Germline

Chr21:46003772

Conflicting classifications of pathogenicity

Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002786334 RCV002795495

NM_004370.6(COL12A1):c.8169T>G (p.Ile2723Met)

SNV
Germline

Chr6:75106428

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002770281 RCV003146626

NM_004370.6(COL12A1):c.4924G>T (p.Glu1642Ter)

SNV
Germline

Chr6:75142065

Pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV002770719

NM_004369.4(COL6A3):c.4615G>A (p.Gly1539Arg)

SNV
Germline

Chr2:237368848

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002790463 RCV003434510

NM_001849.4(COL6A2):c.1671+1G>T

SNV
Germline

Chr21:46122938

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV002801408

NM_001849.4(COL6A2):c.1064G>T (p.Gly355Val)

SNV
Germline

Chr21:46117884

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002801168 RCV004536412

NM_001849.4(COL6A2):c.1327G>T (p.Glu443Ter)

SNV
Germline

Chr21:46119845

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV002815495

NM_001849.4(COL6A2):c.997A>T (p.Lys333Ter)

SNV
Germline

Chr21:46116812

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV002816214

NM_001849.4(COL6A2):c.2418C>A (p.Cys806Ter)

SNV
Germline

Chr21:46126233

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV002806534

NM_004369.4(COL6A3):c.4744G>T (p.Glu1582Ter)

SNV
Germline

Chr2:237368719

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV002834194

NM_001849.4(COL6A2):c.1522-1G>C

SNV
Germline

Chr21:46122107

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV002843219

NM_001849.4(COL6A2):c.801+2T>G

SNV
Germline

Chr21:46114075

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV002846897

NM_001849.4(COL6A2):c.1180-1G>A

SNV
Germline

Chr21:46119029

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV002871020

NM_001848.3(COL6A1):c.1524+1G>A

SNV
Germline

Chr21:45997763

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV002847694

NM_004369.4(COL6A3):c.9230-1G>A

SNV
Germline

Chr2:237333549

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV002852083

NM_001849.4(COL6A2):c.1250G>A (p.Arg417His)

SNV
Germline

Chr21:46119100

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002872835 RCV004065975

NM_004369.4(COL6A3):c.5879C>T (p.Ala1960Val)

SNV
Germline

Chr2:237364388

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002903123 RCV002903122 RCV003236941

NM_001849.4(COL6A2):c.900+1G>T

SNV
Germline

Chr21:46116054

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV002867776

NM_004369.4(COL6A3):c.6916C>T (p.Arg2306Cys)

SNV
Germline

Chr2:237348627

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002917531 RCV003146662

NM_004370.6(COL12A1):c.6094A>T (p.Arg2032Ter)

SNV
Germline

Chr6:75130207

Pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV002931918

NM_004370.6(COL12A1):c.1694G>A (p.Arg565Lys)

SNV
Germline

Chr6:75183247

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002904819 RCV002927212 RCV003146675

NM_004370.6(COL12A1):c.3242G>C (p.Gly1081Ala)

SNV
Germline

Chr6:75156265

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002933760 RCV003491173

NM_001849.4(COL6A2):c.2730C>A (p.Tyr910Ter)

SNV
Germline

Chr21:46132222

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002933706 RCV003146688

NM_001848.3(COL6A1):c.2572C>T (p.Arg858Cys)

SNV
Germline

Chr21:46003498

Conflicting classifications of pathogenicity

Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002954320 RCV002974918

NM_004369.4(COL6A3):c.5892A>T (p.Arg1964Ser)

SNV
Germline

Chr2:237364375

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002944054 RCV003146702 RCV004068340

NM_004370.6(COL12A1):c.4334A>G (p.Lys1445Arg)

SNV
Germline

Chr6:75147758

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002975422 RCV004068267

NM_001849.4(COL6A2):c.1507C>T (p.Gln503Ter)

SNV
Germline

Chr21:46121604

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV002967921

NM_004370.6(COL12A1):c.3257G>A (p.Arg1086Gln)

SNV
Germline

Chr6:75155848

Conflicting classifications of pathogenicity

Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003011097 RCV003146719

NM_001848.3(COL6A1):c.2438A>G (p.Lys813Arg)

SNV
Germline

Chr21:46003123

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003007689 RCV003146725

NM_001848.3(COL6A1):c.2873C>T (p.Ala958Val)

SNV
Germline

Chr21:46003799

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003007693 RCV003491188

NM_004369.4(COL6A3):c.3371C>A (p.Ala1124Glu)

SNV
Germline

Chr2:237374720

Conflicting classifications of pathogenicity

Inborn genetic diseases
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002999656 RCV003009036 RCV003146717

NM_001849.4(COL6A2):c.856-1G>T

SNV
Germline

Chr21:46116008

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV003025561

NM_004370.6(COL12A1):c.394+1G>A

SNV
Germline

Chr6:75191700

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003014090 RCV003170869

NM_004370.6(COL12A1):c.4245T>A (p.Tyr1415Ter)

SNV
Germline

Chr6:75148400

Pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV003030987

NM_004370.6(COL12A1):c.8100+2T>G

SNV
Germline

Chr6:75109016

Pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV003034644

NM_001848.3(COL6A1):c.751G>T (p.Glu251Ter)

SNV
Germline

Chr21:45987511

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV003035400

NM_004369.4(COL6A3):c.1234C>T (p.Gln412Ter)

SNV
Germline

Chr2:237387660

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV003046909

NM_004370.6(COL12A1):c.4282C>T (p.Gln1428Ter)

SNV
Germline

Chr6:75148363

Pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV003044705

NM_004369.4(COL6A3):c.8407G>A (p.Glu2803Lys)

SNV
Germline

Chr2:237340509

Conflicting classifications of pathogenicity

Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002656816 RCV003631277

NM_004369.4(COL6A3):c.4282C>T (p.Pro1428Ser)

SNV
Germline

Chr2:237371735

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

4 SubmittersRCV003517442 RCV002732317 RCV003143541

NM_001848.3(COL6A1):c.629G>A (p.Arg210Gln)

SNV
Germline

Chr21:45986984

Conflicting classifications of pathogenicity

Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002837263 RCV003631282

NM_004369.4(COL6A3):c.251A>G (p.Asn84Ser)

SNV
Germline

Chr2:237395045

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002854169 RCV003143549 RCV003631281

NM_004369.4(COL6A3):c.7843G>T (p.Asp2615Tyr)

SNV
Germline

Chr2:237341073

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003517445 RCV002765238

NM_004370.6(COL12A1):c.2431G>A (p.Glu811Lys)

SNV
Germline

Chr6:75177669

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003145154 RCV003778846

NM_004370.6(COL12A1):c.5894G>A (p.Arg1965His)

SNV
Germline

Chr6:75131983

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003145692 RCV003778850

NM_001848.3(COL6A1):c.2621C>T (p.Ala874Val)

SNV
Germline

Chr21:46003547

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003145731 RCV003778852

NM_001848.3(COL6A1):c.2972C>T (p.Thr991Met)

SNV
Germline

Chr21:46003898

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003145745 RCV003631291

NM_001848.3(COL6A1):c.2077A>C (p.Ser693Arg)

SNV
Germline

Chr21:46002228

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003145747 RCV003517453

NM_001848.3(COL6A1):c.2821C>G (p.Leu941Val)

SNV
Germline

Chr21:46003747

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003143300 RCV003778854

NM_001849.4(COL6A2):c.1642C>A (p.Pro548Thr)

SNV
Germline

Chr21:46122908

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003145763 RCV003517454

NM_001849.4(COL6A2):c.320T>C (p.Val107Ala)

SNV
Germline

Chr21:46112183

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003145772 RCV003631293

NM_004369.4(COL6A3):c.3171C>A (p.Ser1057Arg)

SNV
Germline

Chr2:237374920

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003143310 RCV003631295

NM_001849.4(COL6A2):c.1817-2A>C

SNV
Unknown

Chr21:46125463

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV003153080

NM_004369.4(COL6A3):c.1886G>A (p.Gly629Glu)

SNV
Germline

Chr2:237380926

Conflicting classifications of pathogenicity

Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003181328 RCV003779676

NM_004370.6(COL12A1):c.8329G>C (p.Gly2777Arg)

SNV
Germline

Chr6:75102683

Pathogenic

Bethlem myopathy 2

No Assertion Criteria Provided

1 SubmittersRCV003234733

NM_004370.6(COL12A1):c.6061C>T (p.Arg2021Ter)

SNV
Germline

Chr6:75130858

Pathogenic

Ullrich congenital muscular dystrophy 2
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003234966 RCV003779864

NM_004369.4(COL6A3):c.8566G>A (p.Val2856Ile)

SNV
Germline

Chr2:237339016

Conflicting classifications of pathogenicity

Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003257664 RCV003777058

NM_004370.6(COL12A1):c.2149G>A (p.Glu717Lys)

SNV
Germline

Chr6:75180954

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003318062 RCV003777298

NM_001848.3(COL6A1):c.1111G>A (p.Gly371Arg)

SNV
Unknown

Chr21:45991033

Likely pathogenic

Bethlem myopathy 1A

No Assertion Criteria Provided

1 SubmittersRCV003326230

NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp)

SNV
Germline

Chr2:237361173

Pathogenic

Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A

Criteria Provided
Single Submitter

2 SubmittersRCV003326232 RCV003631310

NM_004369.4(COL6A3):c.661G>T (p.Val221Leu)

SNV
Germline

Chr2:237394635

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003517500 RCV004554169

NM_004370.6(COL12A1):c.4186C>T (p.Arg1396Ter)

SNV
Germline

Chr6:75148459

Pathogenic

Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003405018 RCV003778356

NM_004369.4(COL6A3):c.526G>T (p.Gly176Ter)

SNV
Germline

Chr2:237394770

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003481690 RCV003631325

NM_001848.3(COL6A1):c.1576-2A>G

SNV
Germline

Chr21:45998396

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV003518068

NM_001848.3(COL6A1):c.1138G>A (p.Gly380Arg)

SNV
Germline

Chr21:45992028

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV003518370

NM_004369.4(COL6A3):c.5524G>A (p.Gly1842Arg)

SNV
Germline

Chr2:237366012

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV003518744

NM_001849.4(COL6A2):c.1770+2T>C

SNV
Germline

Chr21:46124922

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV003516747

NM_004369.4(COL6A3):c.6409-1G>C

SNV
Germline

Chr2:237358584

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV003518828

NM_001849.4(COL6A2):c.430C>T (p.Gln144Ter)

SNV
Germline

Chr21:46112293

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV003516843

NM_001849.4(COL6A2):c.1990C>T (p.Gln664Ter)

SNV
Germline

Chr21:46125805

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV003517697

NM_004369.4(COL6A3):c.4286-2A>C

SNV
Germline

Chr2:237369179

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV003631786

NM_001849.4(COL6A2):c.1969+1G>T

SNV
Germline

Chr21:46125618

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV003631988

NM_001848.3(COL6A1):c.268G>A (p.Ala90Thr)

SNV
Germline

Chr21:45984309

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003631879 RCV004371746

NM_001849.4(COL6A2):c.856G>T (p.Gly286Ter)

SNV
Germline

Chr21:46116009

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV003632160

NM_001848.3(COL6A1):c.957+1G>C

SNV
Germline

Chr21:45990285

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV003632204

NM_004369.4(COL6A3):c.217G>T (p.Glu73Ter)

SNV
Germline

Chr2:237395079

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV003632206

NM_004369.4(COL6A3):c.8023G>A (p.Val2675Met)

SNV
Germline

Chr2:237340893

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003632648 RCV004374163

NM_001848.3(COL6A1):c.833G>T (p.Gly278Val)

SNV
Germline

Chr21:45989112

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV003632779

NM_001848.3(COL6A1):c.859-2A>G

SNV
Germline

Chr21:45989606

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV003632780

NM_001848.3(COL6A1):c.1868C>G (p.Ser623Ter)

SNV
Germline

Chr21:46001298

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV003632881

NM_004370.6(COL12A1):c.5794T>C (p.Leu1932=)

SNV
Germline

Chr6:75133293

Conflicting classifications of pathogenicity

Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
COL12A1-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003786317 RCV003893390

NM_004370.6(COL12A1):c.7817C>T (p.Pro2606Leu)

SNV
Germline

Chr6:75113625

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003788471 RCV004366519

NM_004370.6(COL12A1):c.7348C>T (p.Gln2450Ter)

SNV
Germline

Chr6:75119049

Pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV003806856

NM_004370.6(COL12A1):c.5795-2A>C

SNV
Germline

Chr6:75132084

Likely pathogenic

Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2

Criteria Provided
Single Submitter

1 SubmittersRCV003791554

NM_004370.6(COL12A1):c.8100+1G>C

SNV
Germline

Chr6:75109017

Pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV003803712

NM_004370.6(COL12A1):c.5097+1G>A

SNV
Germline

Chr6:75138821

Likely pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV003804224

NM_004370.6(COL12A1):c.6724+1G>C

SNV
Germline

Chr6:75124254

Likely pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV003801400

NM_004370.6(COL12A1):c.6165C>A (p.Tyr2055Ter)

SNV
Germline

Chr6:75130136

Pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV003807162

NM_004370.6(COL12A1):c.73+1G>A

SNV
Germline

Chr6:75202719

Likely pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV003804822

NM_004370.6(COL12A1):c.3715+1G>T

SNV
Germline

Chr6:75152332

Likely pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV003801781

NM_001849.4(COL6A2):c.2161C>T (p.Gln721Ter)

SNV
Germline

Chr21:46125976

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV003820900

NM_004369.4(COL6A3):c.3071-1G>A

SNV
Germline

Chr2:237375021

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV003858585

NM_004369.4(COL6A3):c.5581A>T (p.Lys1861Ter)

SNV
Germline

Chr2:237365955

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV003870410