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	CA2188021	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 Multiple Submitters No Conflicts	CA257715	rs_121434554	3 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	Condition: not provided Bethlem myopathy 1A Bethlem myopathy 1B	Criteria Provided Multiple Submitters No Conflicts	CA257720	rs_121912940	3 SubmittersRCV001781280 RCV000018695 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	6 SubmittersRCV000018699 RCV000725485 RCV004574029
NM_001849.4(COL6A2):c.1000-2A>G	SNV Germline	Chr21:46117398	Pathogenic	Bethlem myopathy 1B Bethlem myopathy 1A	Criteria Provided Single Submitter	CA410527295	rs_1555873356	2 SubmittersRCV003764599 RCV000018703
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)	SNV Germline	Chr21:46132287	Conflicting classifications of pathogenicity	Bethlem myopathy 1A not specified Myosclerosis Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1B COL6A2-related disorder	Criteria Provided Conflicting Classifications	CA242938	rs_117725825	12 SubmittersRCV000018704 RCV000149938 RCV000302217 RCV000359356 RCV000859498 RCV003764600 RCV004532388
NM_001849.4(COL6A2):c.2455C>T (p.Gln819Ter)	SNV Germline	Chr21:46126535	Pathogenic	Bethlem myopathy 1A BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE Condition: not provided Myosclerosis	Criteria Provided Single Submitter	CA127109	rs_121912942	3 SubmittersRCV001327989 RCV003764601 RCV000480797 RCV000018705
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	6 SubmittersRCV000529271 RCV001091900 RCV003764602
NM_001849.4(COL6A2):c.847G>A (p.Gly283Arg)	SNV Germline	Chr21:46115917	Pathogenic	Condition: not provided Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A Ullrich congenital muscular dystrophy 1B	Criteria Provided Multiple Submitters No Conflicts	CA127112	rs_267606748	4 SubmittersRCV000269898 RCV000816890 RCV004799747 RCV003764603
NM_001849.4(COL6A2):c.1493G>A (p.Arg498His)	SNV Germline	Chr21:46121590	Conflicting classifications of pathogenicity	Condition: not provided Myosclerosis Collagen 6-related myopathy Ullrich congenital muscular dystrophy 1B Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA257730	rs_267606749	5 SubmittersRCV000710888 RCV001138981 RCV001138980 RCV003764604 RCV000653500
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	4 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	15 SubmittersRCV000018714 RCV000079739 RCV000626814 RCV001813996
NM_001848.3(COL6A1):c.428+1G>A	SNV Germline	Chr21:45984470	Pathogenic	Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA410516473	rs_1569517717	3 SubmittersRCV000018716 RCV004795926
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 ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A, AUTOSOMAL DOMINANT Collagen 6-related myopathy	Criteria Provided Multiple Submitters No Conflicts	CA127115	rs_121912938	14 SubmittersRCV000079828 RCV000180573 RCV000180574 RCV003764606 RCV003314554
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	Bethlem myopathy 1A Condition: not provided Ullrich congenital muscular dystrophy 1A	Criteria Provided Multiple Submitters No Conflicts	CA257743	rs_267606746	3 SubmittersRCV001216604 RCV000497629 RCV000018722
NM_001849.4(COL6A2):c.2489G>A (p.Arg830Gln)	SNV Germline	Chr21:46131981	Conflicting classifications of pathogenicity	Myopathy Condition: not provided Bethlem myopathy 1A Bethlem myopathy 1B Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A	Criteria Provided Conflicting Classifications	CA206462	rs_139552940	6 SubmittersRCV000193161 RCV000387708 RCV001208362 RCV005409631 RCV005252803
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	Collagen 6-related myopathy Bethlem myopathy 1A Condition: not provided BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE	Criteria Provided Multiple Submitters No Conflicts	CA128533	rs_387906610	6 SubmittersRCV000778644 RCV001054018 RCV000591047 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 COL6A1-related disorder	Criteria Provided Conflicting Classifications	CA215981	rs_138899581	8 SubmittersRCV000050243 RCV000360603 RCV000723507 RCV001083967 RCV004734611
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_170707.4(LMNA):c.1622G>C (p.Arg541Pro)	SNV Germline	Chr1:156137667	Pathogenic/Likely pathogenic	Condition: not provided Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA017630	rs_61444459	4 SubmittersRCV000057345 RCV005089469
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 Bethlem myopathy 1A Condition: not provided Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA221756	rs_369802454	5 SubmittersRCV000079762 RCV001089392 RCV000723482 RCV001142784
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	4 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 COL6A1-related disorder	Criteria Provided Conflicting Classifications	CA221767	rs_398123635	4 SubmittersRCV000079786 RCV000383575 RCV000794035 RCV004734636
NM_001848.3(COL6A1):c.2304G>C (p.Gln768His)	SNV Germline	Chr21:46002580	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA221770	rs_376567898	5 SubmittersRCV000079788 RCV001086476 RCV001142888
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.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 Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A	Criteria Provided Conflicting Classifications	CA221793	rs_374896651	4 SubmittersRCV000079823 RCV002055141 RCV003235035 RCV005394343
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 Inborn genetic diseases Abnormality of the musculature	Criteria Provided Multiple Submitters No Conflicts	CA221800	rs_121912939	14 SubmittersRCV000079833 RCV000173748 RCV001251002 RCV001266306 RCV001814048
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)	SNV Germline	Chr21:45989626	Pathogenic/Likely pathogenic	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A	Criteria Provided Multiple Submitters No Conflicts	CA221801	rs_398123643	12 SubmittersRCV000173743 RCV000173744 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.1970-3C>A	SNV Germline	Chr21:46125782	Conflicting classifications of pathogenicity	Myosclerosis Collagen 6-related myopathy Condition: not provided Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A Bethlem myopathy 1A Tip-toe gait Limb-girdle muscular dystrophy Myosclerosis Bethlem myopathy 1B Ullrich congenital muscular dystrophy 1B not specified	Criteria Provided Conflicting Classifications	CA221815	rs_201879417	10 SubmittersRCV000259240 RCV000300588 RCV000415855 RCV000709829 RCV001084118 RCV003319318 RCV005625276 RCV005394344 RCV005417455
NM_001849.4(COL6A2):c.2241G>A (p.Leu747=)	SNV Germline	Chr21:46126056	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA221822	rs_398123649	3 SubmittersRCV000079876 RCV000723639 RCV005089542
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 COL6A2-related disorder	Criteria Provided Conflicting Classifications	CA221828	rs_146420786	4 SubmittersRCV000079881 RCV001084761 RCV004734637
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 Condition: not provided Bethlem myopathy 1A not specified Tip-toe gait COL6A2-related disorder	Criteria Provided Conflicting Classifications	CA221840	rs_140404854	8 SubmittersRCV000316583 RCV000378558 RCV000723766 RCV001083627 RCV005434630 RCV002226455 RCV004537335
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 Bethlem myopathy 1A Dystonia 27 Ullrich congenital muscular dystrophy 1A Dystonia 27	Criteria Provided Conflicting Classifications	CA147959	rs_80272723	11 SubmittersRCV000080934 RCV000362566 RCV000417628 RCV001079176 RCV002483144 RCV002298466
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	4 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 COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA222606	rs_138049094	7 SubmittersRCV000080939 RCV000558864 RCV001082187 RCV001143351 RCV004737192
NM_004369.4(COL6A3):c.4503C>T (p.Asp1501=)	SNV Germline	Chr2:237368960	Conflicting classifications of pathogenicity	Collagen 6-related myopathy not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA222608	rs_115551245	6 SubmittersRCV000347648 RCV000242148 RCV000723676 RCV001079752
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	11 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	7 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 Condition: not provided	Criteria Provided Conflicting Classifications	CA148027	rs_111803773	7 SubmittersRCV000080991 RCV000548028 RCV004019560 RCV004549516 RCV004710487
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	4 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	not specified Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A	Criteria Provided Conflicting Classifications	CA231047	rs_150686304	8 SubmittersRCV000149921 RCV000116792 RCV000303402 RCV001080605 RCV000515158
NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met)	SNV Germline	Chr2:237381199	Conflicting classifications of pathogenicity	Condition: not provided not specified Bethlem myopathy 1A COL6A3-related disorder Tip-toe gait	Criteria Provided Conflicting Classifications	CA231050	rs_34741387	6 SubmittersRCV000116795 RCV000243539 RCV001083188 RCV004549580 RCV002222398
NM_004369.4(COL6A3):c.3680-5C>T	SNV Germline	Chr2:237372342	Conflicting classifications of pathogenicity	not specified Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA152465	rs_370146203	5 SubmittersRCV000116796 RCV001084876 RCV000724221
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 COL6A3-related disorder Tip-toe gait	Criteria Provided Conflicting Classifications	CA203744	rs_146092501	13 SubmittersRCV000180594 RCV000224823 RCV000304466 RCV001081946 RCV004549581 RCV001358668
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val)	SNV Germline	Chr2:237340907	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A Dystonia 27 Bethlem myopathy 1A not specified Dystonia 27 COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA231053	rs_142851023	9 SubmittersRCV000116801 RCV000515400 RCV000550052 RCV004586552 RCV005359119 RCV004549582
NM_004369.4(COL6A3):c.7216G>T (p.Ala2406Ser)	SNV Germline	Chr2:237344802	Conflicting classifications of pathogenicity	Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_727502841	2 SubmittersRCV005185730 RCV005545277
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 not specified	Criteria Provided Conflicting Classifications	CA295314	rs_116608946	6 SubmittersRCV000369192 RCV000817834 RCV000725025 RCV004782254
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 Ullrich congenital muscular dystrophy 1A Dystonia 27 Collagen 6-related myopathy Bethlem myopathy 1A Condition: not provided Dystonia 27	Criteria Provided Conflicting Classifications	CA247184	rs_114284669	7 SubmittersRCV000247969 RCV000515295 RCV001139121 RCV000653501 RCV000724543 RCV005359316
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	Bethlem myopathy 1A Condition: not provided Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA295305	rs_149330325	4 SubmittersRCV000795686 RCV000730637 RCV001139244
NM_001848.3(COL6A1):c.1378G>A (p.Val460Ile)	SNV Germline	Chr21:45994209	Conflicting classifications of pathogenicity	Bethlem myopathy 1A Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA295252	rs_375452881	3 SubmittersRCV001205926 RCV003144140 RCV005318331
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 Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA295255	rs_140534207	10 SubmittersRCV000149919 RCV000301615 RCV000762044 RCV001086949 RCV001265660
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	CA295267	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	Ullrich congenital muscular dystrophy 1A Condition: not provided Collagen 6-related myopathy Inborn genetic diseases Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA295270	rs_727502829	7 SubmittersRCV001330649 RCV000735128 RCV001138979 RCV005318332 RCV002514869
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 Collagen 6-related myopathy not specified Bethlem myopathy 1A Condition: not provided COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA204818	rs_202092407	6 SubmittersRCV000190770 RCV000344093 RCV000250883 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 not specified	Criteria Provided Conflicting Classifications	CA233835	rs_144223596	8 SubmittersRCV000487673 RCV000528795 RCV001141518 RCV004586573
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	8 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 not specified	Criteria Provided Conflicting Classifications	CA233819	rs_201736323	4 SubmittersRCV000153086 RCV000704454 RCV004700477
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 Bethlem myopathy 1B	Criteria Provided Conflicting Classifications	CA233810	rs_727503883	4 SubmittersRCV000153082 RCV000808812 RCV004596075
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	4 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	Likely pathogenic	Condition: not provided Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	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 Condition: not provided	Criteria Provided Conflicting Classifications	CA200139	rs_786205870	5 SubmittersRCV000172848 RCV000699713 RCV001198487 RCV004719736
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	Myosclerosis Collagen 6-related myopathy Bethlem myopathy 1A Condition: not provided Tip-toe gait	Criteria Provided Conflicting Classifications	CA239204	rs_139399166	6 SubmittersRCV000407691 RCV000311316 RCV000536085 RCV000724011 RCV004725025
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 Bethlem myopathy 1A Dystonia 27 Ullrich congenital muscular dystrophy 1A COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA239566	rs_145447965	4 SubmittersRCV000174099 RCV000547737 RCV000765642 RCV004737265
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 Bethlem myopathy 1A Condition: not provided COL6A2-related disorder	Criteria Provided Conflicting Classifications	CA239826	rs_199929757	6 SubmittersRCV000174304 RCV000300853 RCV000353406 RCV001086194 RCV000762045 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	not specified Myosclerosis Bethlem myopathy 1A Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A Collagen 6-related myopathy Ullrich congenital muscular dystrophy 1A Inborn genetic diseases Ullrich congenital muscular dystrophy 1A	Criteria Provided Conflicting Classifications	CA240700	rs_535007570	11 SubmittersRCV000232259 RCV000300525 RCV000544905 RCV000766827 RCV000391113 RCV003483560 RCV001267221 RCV004783756
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	Myosclerosis Condition: not provided Bethlem myopathy 1A not specified Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA240865	rs_149077114	7 SubmittersRCV000391111 RCV000724248 RCV001087783 RCV000249787 RCV000355395
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 Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A Ullrich congenital muscular dystrophy 1A Bethlem myopathy 1A Condition: not provided Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA241436	rs_137964147	9 SubmittersRCV000175702 RCV000653530 RCV000754716 RCV000764263 RCV000724794 RCV001139936
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp)	SNV Germline	Chr21:45982706	Conflicting classifications of pathogenicity	not specified Collagen 6-related myopathy COL6A1-related disorder Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA241439	rs_143502850	9 SubmittersRCV000202666 RCV000390817 RCV004537387 RCV000724857 RCV001086453
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 not specified	Criteria Provided Conflicting Classifications	CA241921	rs_144887329	4 SubmittersRCV000723484 RCV001081300 RCV004700537
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 Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA242672	rs_374315921	7 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 not specified Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA242694	rs_140728855	6 SubmittersRCV000724744 RCV003488427 RCV000794513
NM_001849.4(COL6A2):c.2517C>T (p.Asp839=)	SNV Germline	Chr21:46132009	Conflicting classifications of pathogenicity	Myosclerosis Condition: not provided not specified COL6A2-related disorder Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA242932	rs_113002150	7 SubmittersRCV000367104 RCV000723503 RCV005434677 RCV004537414 RCV000310053 RCV001087613
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.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 Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA243745	rs_148962954	8 SubmittersRCV000253738 RCV000268594 RCV000653535 RCV000585392
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	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA244794	rs_117583120	9 SubmittersRCV000431648 RCV000279845 RCV001087752
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)	SNV Germline	Chr2:237344571	Pathogenic/Likely pathogenic	Condition: not provided Bethlem myopathy 1A COL6A3-related disorder Bethlem myopathy 1C Ullrich congenital muscular dystrophy 1A Dystonia 27	Criteria Provided Multiple Submitters No Conflicts	CA244831	rs_139260335	18 SubmittersRCV000177877 RCV000352490 RCV003387788 RCV004589832 RCV005237658 RCV004783757
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	4 SubmittersRCV000177882 RCV000690650
NM_004369.4(COL6A3):c.8415C>T (p.Asn2805=)	SNV Germline	Chr2:237340501	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA244928	rs_375442243	3 SubmittersRCV000177941 RCV001088529 RCV001138187
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp)	SNV Germline	Chr2:237340727	Conflicting classifications of pathogenicity	not specified Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A Tip-toe gait	Criteria Provided Conflicting Classifications	CA244931	rs_138466455	14 SubmittersRCV000254307 RCV000177942 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 not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA245244	rs_374267444	6 SubmittersRCV000822172 RCV001818436 RCV000724219 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	6 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	5 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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA245660	rs_553486570	3 SubmittersRCV000178531 RCV000818011 RCV005540022
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	8 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 not specified Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA247620	rs_748053172	4 SubmittersRCV000180242 RCV003398904 RCV001852242
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 not specified	Criteria Provided Conflicting Classifications	CA203991	rs_200487396	8 SubmittersRCV000186501 RCV000441199 RCV000702038 RCV005418003
NM_004369.4(COL6A3):c.6283-2A>C	SNV Germline	Chr2:237359390	Likely pathogenic	Bethlem myopathy 1A Ullrich congenital muscular dystrophy 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	Bethlem myopathy 1A not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA209210	rs_145560772	6 SubmittersRCV000693810 RCV000194796 RCV000725387 RCV005318347
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 Bethlem myopathy 1A Condition: not provided COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA248984	rs_144051775	6 SubmittersRCV000202790 RCV001083049 RCV000539163 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	4 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 Dystonia 27 Bethlem myopathy 1C Ullrich congenital muscular dystrophy 1C	Criteria Provided Conflicting Classifications	CA2189454	rs_147182340	5 SubmittersRCV000234678 RCV000726452 RCV002517430 RCV005016569
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 Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA10586821	rs_886038542	3 SubmittersRCV000253304 RCV002058156 RCV000726944
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 Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2188802	rs_200433282	4 SubmittersRCV000243769 RCV000727538 RCV000543223
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	Collagen 6-related myopathy not specified Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA2189187	rs_116239777	6 SubmittersRCV000298696 RCV000243650 RCV001081211 RCV000730383
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	Bethlem myopathy 1A not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA2189719	rs_78365682	3 SubmittersRCV001089253 RCV000252161 RCV000730871
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 Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA2189852	rs_148970984	8 SubmittersRCV000249125 RCV000277710 RCV001084055 RCV000725060
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 Ullrich congenital muscular dystrophy 2 Bethlem myopathy 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3892023	rs_41266761	12 SubmittersRCV000248918 RCV000488209 RCV000987739 RCV001082633 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 Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA10069952	rs_373948031	3 SubmittersRCV000252571 RCV001088716 RCV000725103
NM_001848.3(COL6A1):c.1584G>A (p.Pro528=)	SNV Germline	Chr21:45998406	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Condition: not provided not specified Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10070429	rs_139243418	6 SubmittersRCV000263375 RCV000725628 RCV000253295 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 Bethlem myopathy 1A Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10070947	rs_529770550	4 SubmittersRCV000247019 RCV001854959 RCV000766392 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	Pathogenic/Likely pathogenic	Collagen 6-related myopathy Condition: not provided Difficulty walking Falls Congenital hip dislocation Muscle weakness Hip flexor weakness Qualitative or quantitative defects of collagen 6 Bethlem myopathy Abnormality of the musculature Ullrich congenital muscular dystrophy 1A Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1B	Criteria Provided Multiple Submitters No Conflicts	CA10072396	rs_747900252	18 SubmittersRCV000354105 RCV000255313 RCV000626815 RCV000844694 RCV001261891 RCV001814135 RCV002227463 RCV000556474 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	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/Likely pathogenic	Condition: not provided Bethlem myopathy 1A Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A	Criteria Provided Multiple Submitters No Conflicts	CA10603503	rs_886041383	3 SubmittersRCV000387642 RCV001855058 RCV005031843
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 Bethlem myopathy 1A Condition: not provided Congenital myopathy	Criteria Provided Conflicting Classifications	CA10072935	rs_373813975	5 SubmittersRCV000285371 RCV000377482 RCV001087885 RCV000400296 RCV005621930
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	4 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 Bethlem myopathy 1A Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA2187879	rs_114248590	3 SubmittersRCV000324903 RCV001088226 RCV001138707
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 not specified	Criteria Provided Conflicting Classifications	CA10070292	rs_200095847	6 SubmittersRCV000366066 RCV000724951 RCV001037986 RCV004701366
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 Dystonia 27	Criteria Provided Conflicting Classifications	CA2188570	rs_113332380	9 SubmittersRCV000404804 RCV000585228 RCV001088919 RCV005365219
NM_001848.3(COL6A1):c.548G>A (p.Gly183Asp)	SNV Germline	Chr21:45986645	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10069600	rs_766184155	3 SubmittersRCV000286349 RCV005090337
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	Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA10073141	rs_61735832	3 SubmittersRCV001087941 RCV000724993
NM_001849.4(COL6A2):c.2935G>A (p.Asp979Asn)	SNV Germline	Chr21:46132427	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10073105	rs_141579198	7 SubmittersRCV000353251 RCV001141921 RCV000653559
NM_004369.4(COL6A3):c.1961A>G (p.Asn654Ser)	SNV Germline	Chr2:237379172	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2189505	rs_144501019	5 SubmittersRCV000281298 RCV001226883 RCV005318357
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 Intellectual disability	Criteria Provided Conflicting Classifications	CA2189376	rs_369930821	6 SubmittersRCV000287686 RCV001301947 RCV003330620 RCV005625499
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	11 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 Ullrich congenital muscular dystrophy 1A COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA2187767	rs_769072338	7 SubmittersRCV000328641 RCV000341324 RCV001204637 RCV003137882 RCV004547666
NM_004369.4(COL6A3):c.5953G>A (p.Val1985Met)	SNV Germline	Chr2:237363363	Conflicting classifications of pathogenicity	Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA2188513	rs_200478135	3 SubmittersRCV000653516 RCV000367029
NM_001849.4(COL6A2):c.2182G>A (p.Val728Met)	SNV Germline	Chr21:46125997	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Condition: not provided Myosclerosis not specified Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10072462	rs_200585528	6 SubmittersRCV000300120 RCV000363018 RCV000359590 RCV001731555 RCV001085703
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 COL6A2-related disorder	Criteria Provided Conflicting Classifications	CA10072292	rs_750444649	5 SubmittersRCV000287971 RCV000347425 RCV000366940 RCV000784948 RCV001078904 RCV004734917
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 Dystonia 27 Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A	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 COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA10604184	rs_777465480	3 SubmittersRCV000326714 RCV001320936 RCV004725138
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 Myosclerosis Ullrich congenital muscular dystrophy 1A Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071224	rs_768434256	4 SubmittersRCV000368110 RCV000764266 RCV001045882
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 Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2188145	rs_147537071	5 SubmittersRCV000280233 RCV001143144 RCV001080968
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 Bethlem myopathy 1A Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA2189504	rs_146291186	8 SubmittersRCV000319603 RCV001243245 RCV000725122 RCV005434759
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln)	SNV Germline	Chr2:237372115	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy Dystonia 27 Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189048	rs_148038440	7 SubmittersRCV000725141 RCV000653522 RCV001139021 RCV001824721
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 Bethlem myopathy 1A not specified COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA2187232	rs_148183839	8 SubmittersRCV000280523 RCV000443634 RCV001089085 RCV000375535 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 not specified	Criteria Provided Conflicting Classifications	CA10072348	rs_771886065	3 SubmittersRCV000283767 RCV002059121 RCV004689701
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 not specified Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA2189307	rs_112172548	6 SubmittersRCV000347536 RCV000689418 RCV004701369 RCV004786651
NM_001848.3(COL6A1):c.539A>G (p.Lys180Arg)	SNV Germline	Chr21:45986636	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA10069599	rs_756141940	4 SubmittersRCV000396281 RCV001081124 RCV001140700
NM_001849.4(COL6A2):c.446G>A (p.Arg149His)	SNV Germline	Chr21:46112309	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy Inborn genetic diseases Limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA10071293	rs_143891262	6 SubmittersRCV000372608 RCV001070638 RCV001143206 RCV004609342 RCV005621932
NM_004369.4(COL6A3):c.6930+4C>T	SNV Germline	Chr2:237348609	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA2188022	rs_375657891	5 SubmittersRCV000725202 RCV000550179 RCV001141289
NM_004369.4(COL6A3):c.2180A>C (p.Tyr727Ser)	SNV Germline	Chr2:237378953	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA2189462	rs_113393241	5 SubmittersRCV000286708 RCV001246875 RCV005621933
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10070782	rs_753759904	4 SubmittersRCV000285506 RCV000329027 RCV001859574 RCV004975385
NM_001848.3(COL6A1):c.1908C>G (p.Asp636Glu)	SNV Germline	Chr21:46001338	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10604415	rs_886042572	4 SubmittersRCV000289318 RCV000653576 RCV004975386
NM_004369.4(COL6A3):c.1087C>T (p.Arg363Cys)	SNV Germline	Chr2:237387807	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2189712	rs_759280111	4 SubmittersRCV000263531 RCV001312761 RCV004975387
NM_001848.3(COL6A1):c.751G>A (p.Glu251Lys)	SNV Germline	Chr21:45987511	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10069713	rs_145849970	6 SubmittersRCV000384249 RCV000344836 RCV001054436
NM_001849.4(COL6A2):c.2893C>T (p.Arg965Cys)	SNV Germline	Chr21:46132385	Conflicting classifications of pathogenicity	Bethlem myopathy 1A Condition: not provided Collagen 6-related myopathy Ullrich congenital muscular dystrophy 1A	Criteria Provided Conflicting Classifications	CA10073082	rs_201188174	7 SubmittersRCV000653524 RCV000363837 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	6 SubmittersRCV000329137 RCV000795886 RCV004547678
NM_004369.4(COL6A3):c.1216C>T (p.Arg406Cys)	SNV Germline	Chr2:237387678	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy COL6A3-related phenotype Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189681	rs_112817175	6 SubmittersRCV000308759 RCV000294221 RCV000984978 RCV001052126
NM_001849.4(COL6A2):c.2361G>A (p.Thr787=)	SNV Germline	Chr21:46126176	Conflicting classifications of pathogenicity	not specified Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10604450	rs_566966690	3 SubmittersRCV000384792 RCV000725249 RCV001087272
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 Collagen 6-related myopathy not specified Condition: not provided Bethlem myopathy 1A COL6A2-related disorder	Criteria Provided Conflicting Classifications	CA10071173	rs_140890046	5 SubmittersRCV000289005 RCV000381103 RCV000387663 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 Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071058	rs_200959957	5 SubmittersRCV000274997 RCV000393046 RCV000553291
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	6 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	5 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	Bethlem myopathy 1A Condition: not provided not specified COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA2187389	rs_201888442	7 SubmittersRCV001082829 RCV000658012 RCV003488497 RCV004547684
NM_001848.3(COL6A1):c.666C>T (p.Arg222=)	SNV Germline	Chr21:45987021	Conflicting classifications of pathogenicity	Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA10069646	rs_372581026	4 SubmittersRCV001085391 RCV000725328
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	7 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 Condition: not provided Bethlem myopathy 1A not specified	Criteria Provided Conflicting Classifications	CA10070040	rs_142882745	7 SubmittersRCV000267314 RCV000725393 RCV000653553 RCV000323225
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	Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2189218	rs_148175795	6 SubmittersRCV000692494 RCV001329868 RCV000390311 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	5 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 Ehlers-Danlos syndrome	Criteria Provided Conflicting Classifications	CA10070995	rs_368307185	7 SubmittersRCV000296391 RCV000326450 RCV001206342 RCV002519143 RCV005625502
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	4 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 Dystonia 27	Criteria Provided Conflicting Classifications	CA2189059	rs_148561729	5 SubmittersRCV000343308 RCV000385431 RCV000653569 RCV005365223
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	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	Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA2188030	rs_763348222	4 SubmittersRCV000538135 RCV000286359
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 Myosclerosis Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A Inborn genetic diseases Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10604873	rs_886042922	9 SubmittersRCV000337022 RCV000477924 RCV001265687 RCV001303665
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 Condition: not provided Bethlem myopathy 1A not specified	Criteria Provided Conflicting Classifications	CA2189167	rs_113360085	8 SubmittersRCV000405233 RCV000725525 RCV000689188 RCV005238839
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10073076	rs_138674440	5 SubmittersRCV000371289 RCV001086987 RCV004543053 RCV005318358
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 COL6A1-related disorder	Criteria Provided Conflicting Classifications	CA10069654	rs_762867111	8 SubmittersRCV000653543 RCV000725541 RCV004734929
NM_001848.3(COL6A1):c.1096G>A (p.Ala366Thr)	SNV Germline	Chr21:45991018	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA10070079	rs_183994910	6 SubmittersRCV000287896 RCV002518949 RCV001140826
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 Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A	Criteria Provided Conflicting Classifications	CA10071056	rs_763228065	6 SubmittersRCV000378705 RCV000816415 RCV005031858
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 not specified	Criteria Provided Conflicting Classifications	CA2189721	rs_140510298	6 SubmittersRCV000313136 RCV001139348 RCV001859611 RCV004586660
NM_004369.4(COL6A3):c.3499A>T (p.Ile1167Phe)	SNV Germline	Chr2:237374592	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Dystonia 27 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 Bethlem myopathy 1A Collagen 6-related myopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2187585	rs_746608405	5 SubmittersRCV000401683 RCV001360027 RCV001138189 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	7 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 not specified Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10069647	rs_199842980	5 SubmittersRCV000725579 RCV001192867 RCV001240408
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 COL6A2-related disorder	Criteria Provided Conflicting Classifications	CA10073086	rs_143569686	3 SubmittersRCV000333624 RCV001395296 RCV004734930
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_001848.3(COL6A1):c.2250+6G>C	SNV Germline	Chr21:46002407	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Bethlem myopathy 1A not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA10070799	rs_202212586	7 SubmittersRCV000344297 RCV000533751 RCV000353872 RCV001311581
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 Ullrich congenital muscular dystrophy 1B Bethlem myopathy 1B Myosclerosis	Criteria Provided Conflicting Classifications	CA10071592	rs_751105293	3 SubmittersRCV000323801 RCV002059171 RCV005396881
NM_004369.4(COL6A3):c.7849G>A (p.Asp2617Asn)	SNV Germline	Chr2:237341067	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA2187679	rs_138285547	6 SubmittersRCV000333005 RCV001141186 RCV001087869 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 Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189153	rs_138426138	5 SubmittersRCV000286606 RCV000725632 RCV001143452 RCV001454599
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 Inborn genetic diseases Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10071037	rs_147716407	4 SubmittersRCV000325487 RCV003165743 RCV001212841
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 Inborn genetic diseases Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2189216	rs_115297652	5 SubmittersRCV000259898 RCV000274489 RCV003165744 RCV000653619
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.7024C>T (p.Arg2342Ter)	SNV Germline	Chr2:237347812	Pathogenic	Condition: not provided Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA10605124	rs_886043113	4 SubmittersRCV000432500 RCV005090362
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	5 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 Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA2189008	rs_115893145	5 SubmittersRCV000260455 RCV000273883 RCV001085152 RCV000725694
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 Collagen 6-related myopathy Bethlem myopathy 1A Dystonia 27 Ullrich congenital muscular dystrophy 1A	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 Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA2188082	rs_116541926	5 SubmittersRCV000320475 RCV000725709 RCV001143143 RCV001088225
NM_001848.3(COL6A1):c.348C>T (p.Ser116=)	SNV Germline	Chr21:45984389	Conflicting classifications of pathogenicity	not specified Bethlem myopathy 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA10069541	rs_189444981	4 SubmittersRCV000404119 RCV001410333 RCV000725717
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 Ullrich congenital muscular dystrophy 1A Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA10073022	rs_145527336	7 SubmittersRCV000286874 RCV000653507 RCV001330654 RCV001139297
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 Inborn genetic diseases Condition: not provided Bethlem myopathy 1A Ullrich congenital muscular dystrophy 1A	Criteria Provided Multiple Submitters No Conflicts	CA10605229	rs_886042883	6 SubmittersRCV000319175 RCV000622451 RCV000578834 RCV001249572
NM_001849.4(COL6A2):c.176T>C (p.Met59Thr)	SNV Germline	Chr21:46112039	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10605263	rs_886043225	3 SubmittersRCV000324629 RCV001301872
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	5 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 Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10070780	rs_755589190	6 SubmittersRCV000407281 RCV000660511 RCV001328889 RCV002521945 RCV002519203
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 Dystonia 27	Criteria Provided Conflicting Classifications	CA2187486	rs_761653490	5 SubmittersRCV000289268 RCV000350575 RCV000687574 RCV005355596
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	Condition: not provided Bethlem myopathy 1A COL6A3-related disorder	Criteria Provided Conflicting Classifications	CA2188877	rs_144223596	3 SubmittersRCV000407676 RCV000548245 RCV004547706
NM_004369.4(COL6A3):c.9394C>T (p.Pro3132Ser)	SNV Germline	Chr2:237325659	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2187278	rs_147533489	5 SubmittersRCV000361739 RCV001142818 RCV001228671 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 Condition: not provided Bethlem myopathy 1A COL6A1-related disorder	Criteria Provided Conflicting Classifications	CA10070905	rs_368651226	4 SubmittersRCV000278479 RCV000725770 RCV000528678 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 Bethlem myopathy 1A not specified COL6A2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10071311	rs_140929054	6 SubmittersRCV000327665 RCV000365882 RCV001082800 RCV000372828 RCV004535358 RCV000725775
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	5 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 not specified COL6A2-related disorder	Criteria Provided Conflicting Classifications	CA10071235	rs_374336669	6 SubmittersRCV000725813 RCV001081483 RCV001141355 RCV004999231 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	Pathogenic/Likely pathogenic	Condition: not provided Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	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 Bethlem myopathy 1A Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA10071228	rs_143583433	5 SubmittersRCV000300938 RCV000379038 RCV001085020 RCV000390977
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 Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA10072520	rs_759293889	5 SubmittersRCV000367936 RCV000557776 RCV005355599
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	Myosclerosis Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A Bethlem myopathy COL6A2-related disorder	Criteria Provided Conflicting Classifications	CA10072456	rs_150098077	9 SubmittersRCV000391271 RCV000725902 RCV000335376 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	6 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	6 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	3 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_001848.3(COL6A1):c.904G>A (p.Gly302Arg)	SNV Germline	Chr21:45989752	Pathogenic/Likely pathogenic	Condition: not provided Bethlem myopathy 1A	Criteria Provided Multiple Submitters No Conflicts	CA10605766	rs_794727028	3 SubmittersRCV000489958 RCV005090371

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

CA2188021

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
Multiple Submitters
No Conflicts

CA257715

rs_121434554

3 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA257720

rs_121912940

3 SubmittersRCV001781280 RCV000018695 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

6 SubmittersRCV000018699 RCV000725485 RCV004574029

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

SNV
Germline

Chr21:46117398

Pathogenic

Bethlem myopathy 1B
Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410527295

rs_1555873356

2 SubmittersRCV003764599 RCV000018703

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

SNV
Germline

Chr21:46132287

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA242938

rs_117725825

12 SubmittersRCV000018704 RCV000149938 RCV000302217 RCV000359356 RCV000859498 RCV003764600 RCV004532388

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

SNV
Germline

Chr21:46126535

Pathogenic

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

Criteria Provided
Single Submitter

CA127109

rs_121912942

3 SubmittersRCV001327989 RCV003764601 RCV000480797 RCV000018705

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

6 SubmittersRCV000529271 RCV001091900 RCV003764602

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

SNV
Germline

Chr21:46115917

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA127112

rs_267606748

4 SubmittersRCV000269898 RCV000816890 RCV004799747 RCV003764603

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

SNV
Germline

Chr21:46121590

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA257730

rs_267606749

5 SubmittersRCV000710888 RCV001138981 RCV001138980 RCV003764604 RCV000653500

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

4 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

15 SubmittersRCV000018714 RCV000079739 RCV000626814 RCV001813996

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

SNV
Germline

Chr21:45984470

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA410516473

rs_1569517717

3 SubmittersRCV000018716 RCV004795926

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
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A, AUTOSOMAL DOMINANT
Collagen 6-related myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA127115

rs_121912938

14 SubmittersRCV000079828 RCV000180573 RCV000180574 RCV003764606 RCV003314554

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA257743

rs_267606746

3 SubmittersRCV001216604 RCV000497629 RCV000018722

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

SNV
Germline

Chr21:46131981

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA206462

rs_139552940

6 SubmittersRCV000193161 RCV000387708 RCV001208362 RCV005409631 RCV005252803

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA128533

rs_387906610

6 SubmittersRCV000778644 RCV001054018 RCV000591047 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
COL6A1-related disorder

Criteria Provided
Conflicting Classifications

CA215981

rs_138899581

8 SubmittersRCV000050243 RCV000360603 RCV000723507 RCV001083967 RCV004734611

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_170707.4(LMNA):c.1622G>C (p.Arg541Pro)

SNV
Germline

Chr1:156137667

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA017630

rs_61444459

4 SubmittersRCV000057345 RCV005089469

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

Criteria Provided
Conflicting Classifications

CA221756

rs_369802454

5 SubmittersRCV000079762 RCV001089392 RCV000723482 RCV001142784

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

4 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
COL6A1-related disorder

Criteria Provided
Conflicting Classifications

CA221767

rs_398123635

4 SubmittersRCV000079786 RCV000383575 RCV000794035 RCV004734636

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

SNV
Germline

Chr21:46002580

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA221770

rs_376567898

5 SubmittersRCV000079788 RCV001086476 RCV001142888

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.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
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Conflicting Classifications

CA221793

rs_374896651

4 SubmittersRCV000079823 RCV002055141 RCV003235035 RCV005394343

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
Inborn genetic diseases
Abnormality of the musculature

Criteria Provided
Multiple Submitters
No Conflicts

CA221800

rs_121912939

14 SubmittersRCV000079833 RCV000173748 RCV001251002 RCV001266306 RCV001814048

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

SNV
Germline

Chr21:45989626

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA221801

rs_398123643

12 SubmittersRCV000173743 RCV000173744 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.1970-3C>A

SNV
Germline

Chr21:46125782

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA221815

rs_201879417

10 SubmittersRCV000259240 RCV000300588 RCV000415855 RCV000709829 RCV001084118 RCV003319318 RCV005625276 RCV005394344 RCV005417455

NM_001849.4(COL6A2):c.2241G>A (p.Leu747=)

SNV
Germline

Chr21:46126056

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA221822

rs_398123649

3 SubmittersRCV000079876 RCV000723639 RCV005089542

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
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA221828

rs_146420786

4 SubmittersRCV000079881 RCV001084761 RCV004734637

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

Criteria Provided
Conflicting Classifications

CA221840

rs_140404854

8 SubmittersRCV000316583 RCV000378558 RCV000723766 RCV001083627 RCV005434630 RCV002226455 RCV004537335

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

Criteria Provided
Conflicting Classifications

CA147959

rs_80272723

11 SubmittersRCV000080934 RCV000362566 RCV000417628 RCV001079176 RCV002483144 RCV002298466

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

4 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
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA222606

rs_138049094

7 SubmittersRCV000080939 RCV000558864 RCV001082187 RCV001143351 RCV004737192

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

SNV
Germline

Chr2:237368960

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA222608

rs_115551245

6 SubmittersRCV000347648 RCV000242148 RCV000723676 RCV001079752

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

11 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

7 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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA148027

rs_111803773

7 SubmittersRCV000080991 RCV000548028 RCV004019560 RCV004549516 RCV004710487

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

4 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

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

Criteria Provided
Conflicting Classifications

CA231047

rs_150686304

8 SubmittersRCV000149921 RCV000116792 RCV000303402 RCV001080605 RCV000515158

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

SNV
Germline

Chr2:237381199

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA231050

rs_34741387

6 SubmittersRCV000116795 RCV000243539 RCV001083188 RCV004549580 RCV002222398

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

SNV
Germline

Chr2:237372342

Conflicting classifications of pathogenicity

not specified
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA152465

rs_370146203

5 SubmittersRCV000116796 RCV001084876 RCV000724221

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
COL6A3-related disorder
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA203744

rs_146092501

13 SubmittersRCV000180594 RCV000224823 RCV000304466 RCV001081946 RCV004549581 RCV001358668

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

SNV
Germline

Chr2:237340907

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA231053

rs_142851023

9 SubmittersRCV000116801 RCV000515400 RCV000550052 RCV004586552 RCV005359119 RCV004549582

NM_004369.4(COL6A3):c.7216G>T (p.Ala2406Ser)

SNV
Germline

Chr2:237344802

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_727502841

2 SubmittersRCV005185730 RCV005545277

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
not specified

Criteria Provided
Conflicting Classifications

CA295314

rs_116608946

6 SubmittersRCV000369192 RCV000817834 RCV000725025 RCV004782254

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

Criteria Provided
Conflicting Classifications

CA247184

rs_114284669

7 SubmittersRCV000247969 RCV000515295 RCV001139121 RCV000653501 RCV000724543 RCV005359316

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

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

Criteria Provided
Conflicting Classifications

CA295305

rs_149330325

4 SubmittersRCV000795686 RCV000730637 RCV001139244

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

SNV
Germline

Chr21:45994209

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA295252

rs_375452881

3 SubmittersRCV001205926 RCV003144140 RCV005318331

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
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA295255

rs_140534207

10 SubmittersRCV000149919 RCV000301615 RCV000762044 RCV001086949 RCV001265660

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

CA295267

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

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

Criteria Provided
Conflicting Classifications

CA295270

rs_727502829

7 SubmittersRCV001330649 RCV000735128 RCV001138979 RCV005318332 RCV002514869

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

Criteria Provided
Conflicting Classifications

CA204818

rs_202092407

6 SubmittersRCV000190770 RCV000344093 RCV000250883 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
not specified

Criteria Provided
Conflicting Classifications

CA233835

rs_144223596

8 SubmittersRCV000487673 RCV000528795 RCV001141518 RCV004586573

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

8 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
not specified

Criteria Provided
Conflicting Classifications

CA233819

rs_201736323

4 SubmittersRCV000153086 RCV000704454 RCV004700477

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
Bethlem myopathy 1B

Criteria Provided
Conflicting Classifications

CA233810

rs_727503883

4 SubmittersRCV000153082 RCV000808812 RCV004596075

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

4 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

Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200139

rs_786205870

5 SubmittersRCV000172848 RCV000699713 RCV001198487 RCV004719736

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

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

Criteria Provided
Conflicting Classifications

CA239204

rs_139399166

6 SubmittersRCV000407691 RCV000311316 RCV000536085 RCV000724011 RCV004725025

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
Bethlem myopathy 1A
Dystonia 27
Ullrich congenital muscular dystrophy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA239566

rs_145447965

4 SubmittersRCV000174099 RCV000547737 RCV000765642 RCV004737265

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

Criteria Provided
Conflicting Classifications

CA239826

rs_199929757

6 SubmittersRCV000174304 RCV000300853 RCV000353406 RCV001086194 RCV000762045 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

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

Criteria Provided
Conflicting Classifications

CA240700

rs_535007570

11 SubmittersRCV000232259 RCV000300525 RCV000544905 RCV000766827 RCV000391113 RCV003483560 RCV001267221 RCV004783756

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

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

Criteria Provided
Conflicting Classifications

CA240865

rs_149077114

7 SubmittersRCV000391111 RCV000724248 RCV001087783 RCV000249787 RCV000355395

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

Criteria Provided
Conflicting Classifications

CA241436

rs_137964147

9 SubmittersRCV000175702 RCV000653530 RCV000754716 RCV000764263 RCV000724794 RCV001139936

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

SNV
Germline

Chr21:45982706

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA241439

rs_143502850

9 SubmittersRCV000202666 RCV000390817 RCV004537387 RCV000724857 RCV001086453

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
not specified

Criteria Provided
Conflicting Classifications

CA241921

rs_144887329

4 SubmittersRCV000723484 RCV001081300 RCV004700537

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
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA242672

rs_374315921

7 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
not specified
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA242694

rs_140728855

6 SubmittersRCV000724744 RCV003488427 RCV000794513

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

SNV
Germline

Chr21:46132009

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA242932

rs_113002150

7 SubmittersRCV000367104 RCV000723503 RCV005434677 RCV004537414 RCV000310053 RCV001087613

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.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
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA243745

rs_148962954

8 SubmittersRCV000253738 RCV000268594 RCV000653535 RCV000585392

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

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

Criteria Provided
Conflicting Classifications

CA244794

rs_117583120

9 SubmittersRCV000431648 RCV000279845 RCV001087752

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

SNV
Germline

Chr2:237344571

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA244831

rs_139260335

18 SubmittersRCV000177877 RCV000352490 RCV003387788 RCV004589832 RCV005237658 RCV004783757

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

4 SubmittersRCV000177882 RCV000690650

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

SNV
Germline

Chr2:237340501

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA244928

rs_375442243

3 SubmittersRCV000177941 RCV001088529 RCV001138187

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

SNV
Germline

Chr2:237340727

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA244931

rs_138466455

14 SubmittersRCV000254307 RCV000177942 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
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA245244

rs_374267444

6 SubmittersRCV000822172 RCV001818436 RCV000724219 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

6 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

5 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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA245660

rs_553486570

3 SubmittersRCV000178531 RCV000818011 RCV005540022

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

8 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
not specified
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA247620

rs_748053172

4 SubmittersRCV000180242 RCV003398904 RCV001852242

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
not specified

Criteria Provided
Conflicting Classifications

CA203991

rs_200487396

8 SubmittersRCV000186501 RCV000441199 RCV000702038 RCV005418003

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

SNV
Germline

Chr2:237359390

Likely pathogenic

Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 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

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

Criteria Provided
Conflicting Classifications

CA209210

rs_145560772

6 SubmittersRCV000693810 RCV000194796 RCV000725387 RCV005318347

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

Criteria Provided
Conflicting Classifications

CA248984

rs_144051775

6 SubmittersRCV000202790 RCV001083049 RCV000539163 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

4 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
Dystonia 27
Bethlem myopathy 1C
Ullrich congenital muscular dystrophy 1C

Criteria Provided
Conflicting Classifications

CA2189454

rs_147182340

5 SubmittersRCV000234678 RCV000726452 RCV002517430 RCV005016569

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
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10586821

rs_886038542

3 SubmittersRCV000253304 RCV002058156 RCV000726944

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
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188802

rs_200433282

4 SubmittersRCV000243769 RCV000727538 RCV000543223

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

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

Criteria Provided
Conflicting Classifications

CA2189187

rs_116239777

6 SubmittersRCV000298696 RCV000243650 RCV001081211 RCV000730383

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

Bethlem myopathy 1A
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2189719

rs_78365682

3 SubmittersRCV001089253 RCV000252161 RCV000730871

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
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2189852

rs_148970984

8 SubmittersRCV000249125 RCV000277710 RCV001084055 RCV000725060

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
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3892023

rs_41266761

12 SubmittersRCV000248918 RCV000488209 RCV000987739 RCV001082633 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
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10069952

rs_373948031

3 SubmittersRCV000252571 RCV001088716 RCV000725103

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

SNV
Germline

Chr21:45998406

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10070429

rs_139243418

6 SubmittersRCV000263375 RCV000725628 RCV000253295 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
Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10070947

rs_529770550

4 SubmittersRCV000247019 RCV001854959 RCV000766392 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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10072396

rs_747900252

18 SubmittersRCV000354105 RCV000255313 RCV000626815 RCV000844694 RCV001261891 RCV001814135 RCV002227463 RCV000556474 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

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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10603503

rs_886041383

3 SubmittersRCV000387642 RCV001855058 RCV005031843

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
Bethlem myopathy 1A
Condition: not provided
Congenital myopathy

Criteria Provided
Conflicting Classifications

CA10072935

rs_373813975

5 SubmittersRCV000285371 RCV000377482 RCV001087885 RCV000400296 RCV005621930

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

4 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
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA2187879

rs_114248590

3 SubmittersRCV000324903 RCV001088226 RCV001138707

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
not specified

Criteria Provided
Conflicting Classifications

CA10070292

rs_200095847

6 SubmittersRCV000366066 RCV000724951 RCV001037986 RCV004701366

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
Dystonia 27

Criteria Provided
Conflicting Classifications

CA2188570

rs_113332380

9 SubmittersRCV000404804 RCV000585228 RCV001088919 RCV005365219

NM_001848.3(COL6A1):c.548G>A (p.Gly183Asp)

SNV
Germline

Chr21:45986645

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069600

rs_766184155

3 SubmittersRCV000286349 RCV005090337

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

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10073141

rs_61735832

3 SubmittersRCV001087941 RCV000724993

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

SNV
Germline

Chr21:46132427

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10073105

rs_141579198

7 SubmittersRCV000353251 RCV001141921 RCV000653559

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

SNV
Germline

Chr2:237379172

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189505

rs_144501019

5 SubmittersRCV000281298 RCV001226883 RCV005318357

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
Intellectual disability

Criteria Provided
Conflicting Classifications

CA2189376

rs_369930821

6 SubmittersRCV000287686 RCV001301947 RCV003330620 RCV005625499

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

11 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
Ullrich congenital muscular dystrophy 1A
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2187767

rs_769072338

7 SubmittersRCV000328641 RCV000341324 RCV001204637 RCV003137882 RCV004547666

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

SNV
Germline

Chr2:237363363

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2188513

rs_200478135

3 SubmittersRCV000653516 RCV000367029

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

SNV
Germline

Chr21:46125997

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10072462

rs_200585528

6 SubmittersRCV000300120 RCV000363018 RCV000359590 RCV001731555 RCV001085703

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
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10072292

rs_750444649

5 SubmittersRCV000287971 RCV000347425 RCV000366940 RCV000784948 RCV001078904 RCV004734917

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

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
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA10604184

rs_777465480

3 SubmittersRCV000326714 RCV001320936 RCV004725138

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
Myosclerosis
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071224

rs_768434256

4 SubmittersRCV000368110 RCV000764266 RCV001045882

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
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188145

rs_147537071

5 SubmittersRCV000280233 RCV001143144 RCV001080968

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
Bethlem myopathy 1A
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2189504

rs_146291186

8 SubmittersRCV000319603 RCV001243245 RCV000725122 RCV005434759

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

SNV
Germline

Chr2:237372115

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2189048

rs_148038440

7 SubmittersRCV000725141 RCV000653522 RCV001139021 RCV001824721

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
Bethlem myopathy 1A
not specified
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2187232

rs_148183839

8 SubmittersRCV000280523 RCV000443634 RCV001089085 RCV000375535 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
not specified

Criteria Provided
Conflicting Classifications

CA10072348

rs_771886065

3 SubmittersRCV000283767 RCV002059121 RCV004689701

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
not specified
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA2189307

rs_112172548

6 SubmittersRCV000347536 RCV000689418 RCV004701369 RCV004786651

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

SNV
Germline

Chr21:45986636

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10069599

rs_756141940

4 SubmittersRCV000396281 RCV001081124 RCV001140700

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

SNV
Germline

Chr21:46112309

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy
Inborn genetic diseases
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA10071293

rs_143891262

6 SubmittersRCV000372608 RCV001070638 RCV001143206 RCV004609342 RCV005621932

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

SNV
Germline

Chr2:237348609

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2188022

rs_375657891

5 SubmittersRCV000725202 RCV000550179 RCV001141289

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

SNV
Germline

Chr2:237378953

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA2189462

rs_113393241

5 SubmittersRCV000286708 RCV001246875 RCV005621933

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10070782

rs_753759904

4 SubmittersRCV000285506 RCV000329027 RCV001859574 RCV004975385

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

SNV
Germline

Chr21:46001338

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10604415

rs_886042572

4 SubmittersRCV000289318 RCV000653576 RCV004975386

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

SNV
Germline

Chr2:237387807

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189712

rs_759280111

4 SubmittersRCV000263531 RCV001312761 RCV004975387

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

SNV
Germline

Chr21:45987511

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10069713

rs_145849970

6 SubmittersRCV000384249 RCV000344836 RCV001054436

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

SNV
Germline

Chr21:46132385

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10073082

rs_201188174

7 SubmittersRCV000653524 RCV000363837 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

6 SubmittersRCV000329137 RCV000795886 RCV004547678

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

SNV
Germline

Chr2:237387678

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2189681

rs_112817175

6 SubmittersRCV000308759 RCV000294221 RCV000984978 RCV001052126

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

SNV
Germline

Chr21:46126176

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10604450

rs_566966690

3 SubmittersRCV000384792 RCV000725249 RCV001087272

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

Criteria Provided
Conflicting Classifications

CA10071173

rs_140890046

5 SubmittersRCV000289005 RCV000381103 RCV000387663 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
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071058

rs_200959957

5 SubmittersRCV000274997 RCV000393046 RCV000553291

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

6 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

5 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

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

Criteria Provided
Conflicting Classifications

CA2187389

rs_201888442

7 SubmittersRCV001082829 RCV000658012 RCV003488497 RCV004547684

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

SNV
Germline

Chr21:45987021

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10069646

rs_372581026

4 SubmittersRCV001085391 RCV000725328

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

7 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
Condition: not provided
Bethlem myopathy 1A
not specified

Criteria Provided
Conflicting Classifications

CA10070040

rs_142882745

7 SubmittersRCV000267314 RCV000725393 RCV000653553 RCV000323225

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

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

Criteria Provided
Conflicting Classifications

CA2189218

rs_148175795

6 SubmittersRCV000692494 RCV001329868 RCV000390311 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

5 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
Ehlers-Danlos syndrome

Criteria Provided
Conflicting Classifications

CA10070995

rs_368307185

7 SubmittersRCV000296391 RCV000326450 RCV001206342 RCV002519143 RCV005625502

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

4 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
Dystonia 27

Criteria Provided
Conflicting Classifications

CA2189059

rs_148561729

5 SubmittersRCV000343308 RCV000385431 RCV000653569 RCV005365223

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

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

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2188030

rs_763348222

4 SubmittersRCV000538135 RCV000286359

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
Myosclerosis
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10604873

rs_886042922

9 SubmittersRCV000337022 RCV000477924 RCV001265687 RCV001303665

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
Condition: not provided
Bethlem myopathy 1A
not specified

Criteria Provided
Conflicting Classifications

CA2189167

rs_113360085

8 SubmittersRCV000405233 RCV000725525 RCV000689188 RCV005238839

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10073076

rs_138674440

5 SubmittersRCV000371289 RCV001086987 RCV004543053 RCV005318358

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
COL6A1-related disorder

Criteria Provided
Conflicting Classifications

CA10069654

rs_762867111

8 SubmittersRCV000653543 RCV000725541 RCV004734929

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

SNV
Germline

Chr21:45991018

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10070079

rs_183994910

6 SubmittersRCV000287896 RCV002518949 RCV001140826

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
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Conflicting Classifications

CA10071056

rs_763228065

6 SubmittersRCV000378705 RCV000816415 RCV005031858

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
not specified

Criteria Provided
Conflicting Classifications

CA2189721

rs_140510298

6 SubmittersRCV000313136 RCV001139348 RCV001859611 RCV004586660

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

SNV
Germline

Chr2:237374592

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2187585

rs_746608405

5 SubmittersRCV000401683 RCV001360027 RCV001138189 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

7 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
not specified
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069647

rs_199842980

5 SubmittersRCV000725579 RCV001192867 RCV001240408

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
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10073086

rs_143569686

3 SubmittersRCV000333624 RCV001395296 RCV004734930

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_001848.3(COL6A1):c.2250+6G>C

SNV
Germline

Chr21:46002407

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10070799

rs_202212586

7 SubmittersRCV000344297 RCV000533751 RCV000353872 RCV001311581

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
Ullrich congenital muscular dystrophy 1B
Bethlem myopathy 1B
Myosclerosis

Criteria Provided
Conflicting Classifications

CA10071592

rs_751105293

3 SubmittersRCV000323801 RCV002059171 RCV005396881

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

SNV
Germline

Chr2:237341067

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2187679

rs_138285547

6 SubmittersRCV000333005 RCV001141186 RCV001087869 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
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189153

rs_138426138

5 SubmittersRCV000286606 RCV000725632 RCV001143452 RCV001454599

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
Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071037

rs_147716407

4 SubmittersRCV000325487 RCV003165743 RCV001212841

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
Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189216

rs_115297652

5 SubmittersRCV000259898 RCV000274489 RCV003165744 RCV000653619

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.7024C>T (p.Arg2342Ter)

SNV
Germline

Chr2:237347812

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10605124

rs_886043113

4 SubmittersRCV000432500 RCV005090362

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

5 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
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2189008

rs_115893145

5 SubmittersRCV000260455 RCV000273883 RCV001085152 RCV000725694

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
Collagen 6-related myopathy
Bethlem myopathy 1A
Dystonia 27
Ullrich congenital muscular dystrophy 1A

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
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188082

rs_116541926

5 SubmittersRCV000320475 RCV000725709 RCV001143143 RCV001088225

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

SNV
Germline

Chr21:45984389

Conflicting classifications of pathogenicity

not specified
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10069541

rs_189444981

4 SubmittersRCV000404119 RCV001410333 RCV000725717

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
Ullrich congenital muscular dystrophy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA10073022

rs_145527336

7 SubmittersRCV000286874 RCV000653507 RCV001330654 RCV001139297

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10605229

rs_886042883

6 SubmittersRCV000319175 RCV000622451 RCV000578834 RCV001249572

NM_001849.4(COL6A2):c.176T>C (p.Met59Thr)

SNV
Germline

Chr21:46112039

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10605263

rs_886043225

3 SubmittersRCV000324629 RCV001301872

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

5 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
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10070780

rs_755589190

6 SubmittersRCV000407281 RCV000660511 RCV001328889 RCV002521945 RCV002519203

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
Dystonia 27

Criteria Provided
Conflicting Classifications

CA2187486

rs_761653490

5 SubmittersRCV000289268 RCV000350575 RCV000687574 RCV005355596

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

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

Criteria Provided
Conflicting Classifications

CA2188877

rs_144223596

3 SubmittersRCV000407676 RCV000548245 RCV004547706

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

SNV
Germline

Chr2:237325659

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2187278

rs_147533489

5 SubmittersRCV000361739 RCV001142818 RCV001228671 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
Condition: not provided
Bethlem myopathy 1A
COL6A1-related disorder

Criteria Provided
Conflicting Classifications

CA10070905

rs_368651226

4 SubmittersRCV000278479 RCV000725770 RCV000528678 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
Bethlem myopathy 1A
not specified
COL6A2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10071311

rs_140929054

6 SubmittersRCV000327665 RCV000365882 RCV001082800 RCV000372828 RCV004535358 RCV000725775

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

5 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
not specified
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10071235

rs_374336669

6 SubmittersRCV000725813 RCV001081483 RCV001141355 RCV004999231 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

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

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
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA10071228

rs_143583433

5 SubmittersRCV000300938 RCV000379038 RCV001085020 RCV000390977

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
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA10072520

rs_759293889

5 SubmittersRCV000367936 RCV000557776 RCV005355599

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

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

Criteria Provided
Conflicting Classifications

CA10072456

rs_150098077

9 SubmittersRCV000391271 RCV000725902 RCV000335376 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

6 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

6 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

3 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_001848.3(COL6A1):c.904G>A (p.Gly302Arg)

SNV
Germline

Chr21:45989752

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10605766

rs_794727028

3 SubmittersRCV000489958 RCV005090371

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_001848.3(COL6A1):c.1349C>T (p.Pro450Leu)

SNV
Germline

Chr21:45994180

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10070257

rs_759834554

5 SubmittersRCV000398156 RCV000402658 RCV002519292 RCV005090374

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
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070980

rs_374685631

6 SubmittersRCV000278318 RCV000542618 RCV003258730 RCV005025429

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

SNV
Germline

Chr2:237325609

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2187272

rs_144291325

4 SubmittersRCV001089111 RCV000726066

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

SNV
Germline

Chr2:237360158

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10605883

rs_886043737

4 SubmittersRCV000485229 RCV000396169

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

SNV
Germline

Chr21:46122148

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10071977

rs_367693258

7 SubmittersRCV000394463 RCV001248350 RCV003352822 RCV002252084 RCV003992262

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
Myosclerosis
Bethlem myopathy 1B
Ullrich congenital muscular dystrophy 1B

Criteria Provided
Conflicting Classifications

CA10073031

rs_755352246

3 SubmittersRCV000390666 RCV000690514 RCV005411400

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.1002+1G>A

SNV
Germline

Chr21:45990423

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10605928

rs_886043700

3 SubmittersRCV000361022 RCV005090377

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

3 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

5 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_001848.3(COL6A1):c.2468C>T (p.Thr823Met)

SNV
Germline

Chr21:46003394

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070939

rs_749442445

3 SubmittersRCV000297738 RCV005090384

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
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187571

rs_763395740

3 SubmittersRCV000330793 RCV000820442

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

SNV
Germline

Chr2:237345192

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA2187923

rs_142002241

4 SubmittersRCV000291486 RCV000653586 RCV005625516

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
Dystonia 27
Ullrich congenital muscular dystrophy 1A
COL6A3-related disorder
Dystonia 27

Criteria Provided
Conflicting Classifications

CA2189266

rs_370664069

6 SubmittersRCV000372216 RCV000527253 RCV000765646 RCV004549607 RCV005355606

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

5 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

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

Criteria Provided
Conflicting Classifications

CA10072954

rs_199606147

9 SubmittersRCV000726187 RCV000694478 RCV002519307 RCV005355608 RCV001270045

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

SNV
Germline

Chr21:46126066

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10072486

rs_375884809

4 SubmittersRCV000362319 RCV000809905 RCV000764267 RCV004734941

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

4 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
Inborn genetic diseases
Ullrich congenital muscular dystrophy 1C
Bethlem myopathy 1C
Dystonia 27

Criteria Provided
Conflicting Classifications

CA2187357

rs_116655315

7 SubmittersRCV000344053 RCV000653541 RCV001138501 RCV004975400 RCV005025434

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

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

Criteria Provided
Conflicting Classifications

CA2189811

rs_779535244

4 SubmittersRCV000765647 RCV000726202 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.1846A>G (p.Met616Val)

SNV
Germline

Chr2:237380966

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10606203

rs_886043993

4 SubmittersRCV000318756 RCV004021262 RCV005055831

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
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072394

rs_373369963

4 SubmittersRCV000382585 RCV001141702 RCV001080623

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
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Dystonia 27
not specified

Criteria Provided
Conflicting Classifications

CA2187593

rs_111395856

6 SubmittersRCV000726253 RCV001236572 RCV002487261 RCV004701390

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
Dystonia 27
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2188617

rs_368943871

4 SubmittersRCV000284088 RCV001224918 RCV005365228 RCV004021269

NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu)

SNV
Germline

Chr21:46115918

Pathogenic/Likely pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10606332

rs_886044088

3 SubmittersRCV000657920 RCV000591727

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
not specified

Criteria Provided
Conflicting Classifications

CA10070496

rs_751040647

6 SubmittersRCV000286257 RCV000812322 RCV005434767

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
Inborn genetic diseases
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10072957

rs_369396198

6 SubmittersRCV000264028 RCV000706105 RCV004975402 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
Bethlem myopathy 1A
Dystonia 27
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
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2187815

rs_778474394

3 SubmittersRCV000282955 RCV001399694 RCV004737424

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

4 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_004369.4(COL6A3):c.1785C>T (p.Ile595=)

SNV
Germline

Chr2:237381027

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2189559

rs_114278376

4 SubmittersRCV001392733 RCV000366529 RCV000726378

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
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA2187428

rs_199936838

3 SubmittersRCV000365325 RCV001398383 RCV001141063

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

Criteria Provided
Conflicting Classifications

CA2189211

rs_201962257

7 SubmittersRCV000653597 RCV000765645 RCV000726400 RCV001136882

NM_004369.4(COL6A3):c.415G>A (p.Gly139Ser)

SNV
Germline

Chr2:237394881

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189873

rs_749386499

3 SubmittersRCV000300016 RCV005090400

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

4 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
Condition: not provided
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA2189776

rs_111481402

5 SubmittersRCV000327473 RCV000726442 RCV001079205 RCV000406436

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

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2187771

rs_115591088

4 SubmittersRCV001445695 RCV000387686

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189037

rs_144878757

3 SubmittersRCV000341791 RCV002519336 RCV005540048

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
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA2189180

rs_374447921

5 SubmittersRCV000318950 RCV000530876 RCV000404395

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

5 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
COL6A2-related disorder
Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA10072466

rs_755147431

4 SubmittersRCV000316070 RCV004543138 RCV001078997 RCV001143525

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

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

Criteria Provided
Conflicting Classifications

CA10072010

rs_200667230

6 SubmittersRCV001225882 RCV001820838 RCV000407122 RCV003389051

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

3 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
Inborn genetic diseases
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072902

rs_755782924

8 SubmittersRCV000278481 RCV003343746 RCV001139200 RCV000699042

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

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

Criteria Provided
Conflicting Classifications

CA10071053

rs_150378645

5 SubmittersRCV000800199 RCV000726530 RCV000393008

NM_001848.3(COL6A1):c.957+1G>A

SNV
Germline

Chr21:45990285

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10606879

rs_886044535

3 SubmittersRCV000396948 RCV001850475 RCV005416273

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

Criteria Provided
Conflicting Classifications

CA10072126

rs_142021066

7 SubmittersRCV000394253 RCV003278744 RCV000726572 RCV001084509 RCV001143419 RCV004543145

NM_001849.4(COL6A2):c.1269G>C (p.Pro423=)

SNV
Germline

Chr21:46119119

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10071790

rs_144136807

4 SubmittersRCV000300050 RCV001850479 RCV004543146 RCV001136741

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
Condition: not provided
Bethlem myopathy 1A
not specified

Criteria Provided
Conflicting Classifications

CA2189698

rs_189772397

5 SubmittersRCV000290905 RCV000726675 RCV001083780 RCV000377325

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
Bethlem myopathy 1A
not specified
Dystonia 27
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2187630

rs_115757876

7 SubmittersRCV000350555 RCV000871918 RCV000428967 RCV002298573 RCV004021803 RCV004710886

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
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2187714

rs_145581705

4 SubmittersRCV000359862 RCV000592983 RCV001088849 RCV000727109

NM_004369.4(COL6A3):c.5833G>A (p.Val1945Met)

SNV
Germline

Chr2:237365703

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2188571

rs_113332380

6 SubmittersRCV000314267 RCV002519952 RCV003137960 RCV001597100 RCV005355658

NM_004369.4(COL6A3):c.5252C>T (p.Thr1751Met)

SNV
Germline

Chr2:237366935

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Collagen 6-related myopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2188712

rs_201147199

3 SubmittersRCV000805218 RCV000381887 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
Bethlem myopathy 1C
Ullrich congenital muscular dystrophy 1C
Dystonia 27
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189859

rs_199632952

7 SubmittersRCV000330460 RCV000734569 RCV001088712 RCV005018699 RCV005540063

NM_004369.4(COL6A3):c.461C>T (p.Ser154Leu)

SNV
Germline

Chr2:237394835

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2189862

rs_147701785

6 SubmittersRCV000795594 RCV000387185 RCV000594149

NM_004369.4(COL6A3):c.9148G>A (p.Ala3050Thr)

SNV
Germline

Chr2:237334707

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2187346

rs_114596320

5 SubmittersRCV000428268 RCV000396697 RCV000653682 RCV002298572 RCV004549762

NM_004369.4(COL6A3):c.8137A>G (p.Arg2713Gly)

SNV
Germline

Chr2:237340779

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2187624

rs_772602377

3 SubmittersRCV000293242 RCV000704197 RCV005540061

NM_004369.4(COL6A3):c.7029+10C>T

SNV
Germline

Chr2:237347797

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2187968

rs_376525317

5 SubmittersRCV000286829 RCV001081080 RCV000613553 RCV000729824

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189057

rs_761799119

4 SubmittersRCV000349597 RCV003144224 RCV002523124 RCV005540062

NM_004369.4(COL6A3):c.3751G>A (p.Val1251Ile)

SNV
Germline

Chr2:237372266

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2189083

rs_199646208

5 SubmittersRCV000392690 RCV002252099 RCV000733500 RCV001087853 RCV005355659

NM_004369.4(COL6A3):c.3732C>T (p.Ala1244=)

SNV
Germline

Chr2:237372285

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2189089

rs_193265138

4 SubmittersRCV000305882 RCV000593615 RCV004549763 RCV002519955

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189498

rs_111584250

5 SubmittersRCV000377726 RCV000997706 RCV001865214 RCV004975462

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
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2189591

rs_755178814

4 SubmittersRCV000346069 RCV001239780 RCV004021805 RCV003137962

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.5655G>C (p.Val1885=)

SNV
Germline

Chr2:237365881

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188613

rs_756468711

2 SubmittersRCV000390649 RCV005055899

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
not specified

Criteria Provided
Conflicting Classifications

CA2188765

rs_767560639

3 SubmittersRCV000293578 RCV002519954 RCV004586686

NM_004369.4(COL6A3):c.3190C>T (p.Arg1064Trp)

SNV
Germline

Chr2:237374901

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2189222

rs_369810455

6 SubmittersRCV000384051 RCV000731144 RCV000686574 RCV005027433

NM_004369.4(COL6A3):c.1562C>T (p.Ser521Leu)

SNV
Germline

Chr2:237381250

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2189596

rs_115881121

3 SubmittersRCV000404863 RCV000730387 RCV001087014

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
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2189874

rs_148996231

3 SubmittersRCV000271825 RCV001517180 RCV000598068

NM_001848.3(COL6A1):c.794C>T (p.Pro265Leu)

SNV
Germline

Chr21:45987644

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10069754

rs_757230924

5 SubmittersRCV000295751 RCV001861185 RCV000595689

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.1612-15C>G

SNV
Germline

Chr21:45998882

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10644867

rs_886057154

2 SubmittersRCV000373273 RCV005090542

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10071632

rs_760872485

3 SubmittersRCV000262016 RCV000368303 RCV001214463 RCV004975464

NM_001849.4(COL6A2):c.1674G>A (p.Ala558=)

SNV
Germline

Chr21:46124653

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10072113

rs_144334894

5 SubmittersRCV000303949 RCV000393933 RCV001081672 RCV000730302

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
Inborn genetic diseases
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071329

rs_371640468

4 SubmittersRCV000342235 RCV000393836 RCV002523191 RCV003144235 RCV001056159

NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln)

SNV
Germline

Chr21:46124685

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10072124

rs_147158850

5 SubmittersRCV000363263 RCV000393901 RCV000873809 RCV000593658 RCV001812879

NM_001849.4(COL6A2):c.2575G>A (p.Val859Met)

SNV
Germline

Chr21:46132067

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10072931

rs_370446082

6 SubmittersRCV000281777 RCV000320418 RCV000593147 RCV000794426

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

4 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
Bethlem myopathy 1A
COL6A2-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10073123

rs_544436881

5 SubmittersRCV000278533 RCV000389290 RCV001343854 RCV004735492 RCV005418088 RCV003137965

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
Bethlem myopathy 1A
Myosclerosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10072940

rs_200488881

3 SubmittersRCV000344482 RCV000804442 RCV000401616 RCV003430869

NM_001849.4(COL6A2):c.2712G>A (p.Ala904=)

SNV
Germline

Chr21:46132204

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10072986

rs_139116075

3 SubmittersRCV000291050 RCV000733642 RCV001445261 RCV000383013

NM_001849.4(COL6A2):c.2788C>T (p.Arg930Cys)

SNV
Germline

Chr21:46132280

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10653091

rs_886057168

3 SubmittersRCV000337382 RCV000653558 RCV000392176 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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10073128

rs_142432514

3 SubmittersRCV000308256 RCV000365215 RCV000551844 RCV005318380

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

Criteria Provided
Conflicting Classifications

CA10071090

rs_141663473

5 SubmittersRCV000413854 RCV001088252 RCV000727243 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

Fatigue
Muscular dystrophy
Limb-girdle muscle weakness
Hyperextensible hand joints
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
not specified

Criteria Provided
Conflicting Classifications

CA3893347

rs_180718181

5 SubmittersRCV000441031 RCV000798902 RCV005407109

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_001849.4(COL6A2):c.2422+7G>T

SNV
Germline

Chr21:46126244

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072561

rs_773282809

3 SubmittersRCV000438485 RCV000727220 RCV005090808

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

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

Criteria Provided
Conflicting Classifications

CA10071297

rs_764014106

4 SubmittersRCV001143207 RCV000726494 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
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10070571

rs_745847824

4 SubmittersRCV000419140 RCV000805079 RCV000727527

NM_001849.4(COL6A2):c.1572+1G>A

SNV
Germline

Chr21:46122159

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16608565

rs_1057520717

5 SubmittersRCV000423788 RCV001851051 RCV005409653

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2189382

rs_761796175

5 SubmittersRCV000482545 RCV000704208 RCV003224805 RCV004797817

NM_001848.3(COL6A1):c.329G>A (p.Arg110His)

SNV
Germline

Chr21:45984370

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069528

rs_773139115

3 SubmittersRCV000481388 RCV001476375

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
COL6A1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA10071020

rs_563043611

6 SubmittersRCV000537709 RCV000734240 RCV004535516 RCV004526689

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2188967

rs_539986030

5 SubmittersRCV000488365 RCV000821801 RCV004975569

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189121

rs_772944531

6 SubmittersRCV000487720 RCV000821173 RCV001731716 RCV004975570

NM_004369.4(COL6A3):c.3549C>G (p.Asp1183Glu)

SNV
Germline

Chr2:237374542

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189146

rs_762240306

6 SubmittersRCV000488005 RCV000821825 RCV004975571

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
not specified

Criteria Provided
Conflicting Classifications

CA3892440

rs_201988277

7 SubmittersRCV000487682 RCV000652916 RCV005239080

NM_004370.6(COL12A1):c.7519+1G>A

SNV
Germline

Chr6:75117381

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16621843

rs_1064797326

2 SubmittersRCV000488054 RCV005213301

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
not specified

Criteria Provided
Conflicting Classifications

CA3893225

rs_530680231

5 SubmittersRCV000489488 RCV000803721 RCV005239083

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

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

Criteria Provided
Conflicting Classifications

CA2187327

rs_199680718

4 SubmittersRCV001142819 RCV000493809 RCV002063859

NM_004369.4(COL6A3):c.6604C>T (p.Arg2202Ter)

SNV
Germline

Chr2:237354922

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA351213744

rs_774115247

3 SubmittersRCV001389456 RCV005252925 RCV000493437

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
not specified

Criteria Provided
Conflicting Classifications

CA10069639

rs_375217284

7 SubmittersRCV000493688 RCV000695796 RCV001137825 RCV002527089 RCV004689764

NM_004369.4(COL6A3):c.4894C>T (p.Arg1632Trp)

SNV
Germline

Chr2:237368569

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2188792

rs_113755498

3 SubmittersRCV000497764 RCV002524090 RCV005318408

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
Dystonia 27

Criteria Provided
Conflicting Classifications

CA2187682

rs_145884404

5 SubmittersRCV000732252 RCV001078607 RCV002525235 RCV005367371

NM_004369.4(COL6A3):c.6451G>C (p.Val2151Leu)

SNV
Germline

Chr2:237358541

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2188286

rs_768565928

4 SubmittersRCV000728295 RCV000812792 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
Dystonia 27
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189212

rs_778403814

7 SubmittersRCV000727405 RCV000661957 RCV000661955 RCV000661956 RCV004701595 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
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3893407

rs_574863380

4 SubmittersRCV000519676 RCV001857946 RCV003302754

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

4 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.2192G>A (p.Arg731His)

SNV
Germline

Chr21:46002343

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070789

rs_777293815

3 SubmittersRCV000522474 RCV005091215

NM_001848.3(COL6A1):c.2653C>T (p.Arg885Cys)

SNV
Germline

Chr21:46003579

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10070992

rs_746298580

6 SubmittersRCV000729140 RCV001226905 RCV005318416

NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala)

SNV
Germline

Chr21:46003802

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
not specified

Criteria Provided
Conflicting Classifications

CA10071059

rs_144814689

6 SubmittersRCV000726628 RCV001085503 RCV002469180

NM_004369.4(COL6A3):c.8615C>T (p.Thr2872Met)

SNV
Germline

Chr2:237336485

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Dystonia 27

Criteria Provided
Conflicting Classifications

CA2187492

rs_759009226

4 SubmittersRCV000555066 RCV000594693 RCV005357617

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.6182G>A (p.Arg2061Gln)

SNV
Germline

Chr2:237361149

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2188423

rs_376715966

2 SubmittersRCV000541035 RCV004975690

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
not specified

Criteria Provided
Conflicting Classifications

CA351222204

rs_1416475329

3 SubmittersRCV000541712 RCV003144370 RCV004701649

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
Dystonia 27
Condition: not provided
COL6A3-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2188590

rs_113251155

6 SubmittersRCV000543905 RCV001329871 RCV000593713 RCV004737831 RCV002526737

NM_004369.4(COL6A3):c.4691G>A (p.Arg1564His)

SNV
Germline

Chr2:237368772

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2188831

rs_368151192

3 SubmittersRCV000541981 RCV003480692 RCV004975688

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

Condition: not provided
Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188739

rs_773631759

3 SubmittersRCV003144373 RCV003159937 RCV000551304

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
not specified
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA2189456

rs_150008830

5 SubmittersRCV000530306 RCV000732713 RCV004586793 RCV003329167

NM_004369.4(COL6A3):c.8201G>A (p.Arg2734Gln)

SNV
Germline

Chr2:237340715

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2187602

rs_115116398

4 SubmittersRCV000539637 RCV003488694 RCV005532693

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
Dystonia 27
Ullrich congenital muscular dystrophy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2188918

rs_144314743

5 SubmittersRCV000546203 RCV000727675 RCV000765643 RCV005540113

NM_004370.6(COL12A1):c.5221G>A (p.Glu1741Lys)

SNV
Germline

Chr6:75138457

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3893227

rs_200201449

4 SubmittersRCV001085764 RCV000545369 RCV005239210

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
not specified

Criteria Provided
Conflicting Classifications

CA3892185

rs_185171880

6 SubmittersRCV000542800 RCV001584355 RCV002527917 RCV003905471 RCV005239215

NM_004370.6(COL12A1):c.6448T>C (p.Tyr2150His)

SNV
Germline

Chr6:75126363

Conflicting classifications of pathogenicity

Bethlem myopathy 2
Ullrich congenital muscular dystrophy 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.4371G>T (p.Val1457=)

SNV
Germline

Chr6:75147721

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3893466

rs_761741355

2 SubmittersRCV000527662 RCV004721441

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
not specified

Criteria Provided
Conflicting Classifications

CA3892989

rs_191233787

6 SubmittersRCV000536812 RCV001551411 RCV005239213

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
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3893785

rs_201852681

4 SubmittersRCV000558670 RCV001584351 RCV005407738 RCV003243196

NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile)

SNV
Germline

Chr6:75189603

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3894392

rs_375673671

6 SubmittersRCV000539466 RCV004024348 RCV001566196

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
Inborn genetic diseases
COL12A1-related disorder

Criteria Provided
Conflicting Classifications

CA3892294

rs_200646131

4 SubmittersRCV000555051 RCV001561722 RCV005318427 RCV003905470

NM_004370.6(COL12A1):c.7223C>T (p.Thr2408Met)

SNV
Germline

Chr6:75119174

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3892611

rs_141593495

5 SubmittersRCV000534733 RCV001509277 RCV005239214

NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile)

SNV
Germline

Chr6:75134783

Conflicting classifications of pathogenicity

Condition: not provided
Cataract 16 multiple types
Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA3893123

rs_201408175

5 SubmittersRCV001509278 RCV001542757 RCV000537883

NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met)

SNV
Germline

Chr6:75137438

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3893151

rs_370767331

7 SubmittersRCV000534080 RCV001591295 RCV002525329 RCV005239211

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
not specified

Criteria Provided
Conflicting Classifications

CA3894093

rs_200315815

5 SubmittersRCV000538608 RCV001584350 RCV005407737

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.1745C>T (p.Pro582Leu)

SNV
Germline

Chr21:45999661

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10070534

rs_766478019

2 SubmittersRCV000529066 RCV004975685

NM_001848.3(COL6A1):c.1930C>T (p.Arg644Trp)

SNV
Germline

Chr21:46001360

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10070655

rs_146622557

3 SubmittersRCV000555811 RCV003144367 RCV005318428

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/Likely pathogenic

Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA410548425

rs_1555877252

2 SubmittersRCV000525868 RCV005357616

NM_001848.3(COL6A1):c.1399-8C>G

SNV
Germline

Chr21:45997413

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10070291

rs_749529856

2 SubmittersRCV001424700 RCV000592205

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

3 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

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

Criteria Provided
Conflicting Classifications

CA10072019

rs_143338050

6 SubmittersRCV001085505 RCV001141593 RCV000594262 RCV005431764

NM_001849.4(COL6A2):c.2002G>T (p.Glu668Ter)

SNV
Germline

Chr21:46125817

Pathogenic

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA410539722

rs_138948335

2 SubmittersRCV000537082 RCV005318429

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

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

Criteria Provided
Conflicting Classifications

CA10071269

rs_145352569

5 SubmittersRCV001084615 RCV000730361 RCV005027659

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

Criteria Provided
Conflicting Classifications

CA10073100

rs_200200671

4 SubmittersRCV000556569 RCV000733635 RCV000660619

NM_001849.4(COL6A2):c.3047G>A (p.Arg1016His)

SNV
Germline

Chr21:46132539

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10073156

rs_376368468

3 SubmittersRCV000541027 RCV001653926 RCV005318430

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

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

Criteria Provided
Conflicting Classifications

CA10071042

rs_111451684

4 SubmittersRCV001084881 RCV000591795 RCV004543240

NM_001849.4(COL6A2):c.426G>A (p.Thr142=)

SNV
Germline

Chr21:46112289

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10071288

rs_149480738

4 SubmittersRCV001087484 RCV000597796 RCV000726671

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
Condition: not provided
COL6A2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10072551

rs_761913437

4 SubmittersRCV000548374 RCV004691912 RCV004735628 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
Ullrich congenital muscular dystrophy 1A
Collagen 6-related myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA321979833

rs_1012567148

5 SubmittersRCV000584913 RCV000653580 RCV004771479 RCV005091525

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

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA410521712

rs_1556425531

2 SubmittersRCV000592128 RCV001069616

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

4 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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10070726

rs_756467809

3 SubmittersRCV000595360 RCV001860153 RCV005540115

NM_001848.3(COL6A1):c.811C>T (p.Arg271Ter)

SNV
Germline

Chr21:45989090

Pathogenic

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA410521397

rs_1391624796

2 SubmittersRCV001230868 RCV000591172

NM_001849.4(COL6A2):c.1762G>A (p.Gly588Ser)

SNV
Germline

Chr21:46124912

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10072170

rs_139488626

4 SubmittersRCV000592435 RCV000690561 RCV005357781

NM_001848.3(COL6A1):c.381C>T (p.Thr127=)

SNV
Germline

Chr21:45984422

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069549

rs_75180385

3 SubmittersRCV000726634 RCV001081070

NM_001848.3(COL6A1):c.2694G>A (p.Thr898=)

SNV
Germline

Chr21:46003620

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10071002

rs_372931456

2 SubmittersRCV001088514 RCV000597984

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

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10071032

rs_145846228

4 SubmittersRCV000591250 RCV000702886 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
not specified

Criteria Provided
Conflicting Classifications

CA2189729

rs_200720222

5 SubmittersRCV000596437 RCV000653542 RCV005407775

NM_001849.4(COL6A2):c.139G>A (p.Val47Met)

SNV
Germline

Chr21:46112002

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10071219

rs_370171967

5 SubmittersRCV000593689 RCV001215044 RCV004975694

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

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070729

rs_777378283

3 SubmittersRCV000597556 RCV000653545

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_001849.4(COL6A2):c.2397T>C (p.Asp799=)

SNV
Germline

Chr21:46126212

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072546

rs_754203636

4 SubmittersRCV000593353 RCV003488714 RCV005056257

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_001849.4(COL6A2):c.1053+1G>C

SNV
Germline

Chr21:46117454

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA410527404

rs_886043187

3 SubmittersRCV000594685 RCV002265813 RCV005091556

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

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2187286

rs_748814297

3 SubmittersRCV001439881 RCV000598520

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
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2188733

rs_114845780

4 SubmittersRCV000596823 RCV001421658 RCV004586815 RCV005540116

NM_004369.4(COL6A3):c.2600A>T (p.Asn867Ile)

SNV
Germline

Chr2:237377242

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
not specified

Criteria Provided
Conflicting Classifications

CA2189364

rs_751459281

3 SubmittersRCV000595402 RCV001367018 RCV004586816

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

3 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
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071285

rs_528885146

3 SubmittersRCV000593120 RCV001143205 RCV001443506

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

Condition: not provided
not specified
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187724

rs_201479636

3 SubmittersRCV000727105 RCV000597332 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

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071055

rs_373070436

3 SubmittersRCV000593078 RCV000695955

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

4 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
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2189842

rs_767499336

4 SubmittersRCV000598246 RCV000806334 RCV002531079 RCV004737871

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

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2189858

rs_150972216

2 SubmittersRCV001342429 RCV000596560

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

5 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
COL6A3-related disorder
Dystonia 27

Criteria Provided
Conflicting Classifications

CA2188847

rs_763162762

4 SubmittersRCV000591152 RCV001419741 RCV004737876 RCV005357790

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

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10073020

rs_776437060

2 SubmittersRCV003517238 RCV000595087

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2187433

rs_376021820

4 SubmittersRCV000598205 RCV000804675 RCV005318447

NM_004369.4(COL6A3):c.4271G>A (p.Arg1424His)

SNV
Germline

Chr2:237371746

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2188959

rs_149838946

4 SubmittersRCV000791572 RCV000596949 RCV004975707

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

Condition: not provided
Bethlem myopathy 1A
not specified

Criteria Provided
Conflicting Classifications

CA431710520

rs_1439207088

3 SubmittersRCV000595796 RCV000653658 RCV005431794

NM_001848.3(COL6A1):c.1741-6G>A

SNV
Germline

Chr21:45999651

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10070532

rs_200334019

5 SubmittersRCV000592845 RCV003126841 RCV001089428

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

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10070974

rs_200124802

3 SubmittersRCV001079481 RCV000730862

NM_001848.3(COL6A1):c.2187C>T (p.Asp729=)

SNV
Germline

Chr21:46002338

Conflicting classifications of pathogenicity

not specified
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10070786

rs_369502543

3 SubmittersRCV000606463 RCV001078737 RCV000728993

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
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070790

rs_562898957

6 SubmittersRCV000624130 RCV000733720 RCV000705701

NM_001849.4(COL6A2):c.902G>A (p.Gly301Asp)

SNV
Germline

Chr21:46116378

Pathogenic

Inborn genetic diseases
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA410525581

rs_1555872965

3 SubmittersRCV000624324 RCV002532835 RCV004696960

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
Ullrich congenital muscular dystrophy
Inborn genetic diseases
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

CA3893172

rs_755536829

5 SubmittersRCV000625794 RCV000652902 RCV003162766 RCV002533144 RCV005357826

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

5 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

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA67852996

rs_894679602

2 SubmittersRCV000733876 RCV001088916

NM_004369.4(COL6A3):c.5690C>T (p.Pro1897Leu)

SNV
Germline

Chr2:237365846

Conflicting classifications of pathogenicity

Inborn genetic diseases
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2188604

rs_370806359

4 SubmittersRCV002536303 RCV000653513 RCV003144450

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
Ullrich congenital muscular dystrophy
Bethlem myopathy

Criteria Provided
Conflicting Classifications

CA3892499

rs_199724285

4 SubmittersRCV000652929 RCV001775942 RCV005429030

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
not specified

Criteria Provided
Conflicting Classifications

CA3893080

rs_201372309

3 SubmittersRCV000652912 RCV001592828 RCV005240394

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
not specified

Criteria Provided
Conflicting Classifications

CA3893356

rs_200520924

5 SubmittersRCV000652923 RCV002282293 RCV005240397

NM_004370.6(COL12A1):c.8686-5A>T

SNV
Germline

Chr6:75091394

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3892144

rs_749754621

3 SubmittersRCV000652946 RCV005431846 RCV001788311

NM_004370.6(COL12A1):c.8420G>A (p.Arg2807His)

SNV
Germline

Chr6:75102048

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3892269

rs_186328815

6 SubmittersRCV005240398 RCV002251492 RCV002534187 RCV000652941

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
not specified
Condition: not provided
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

CA3892699

rs_55997127

7 SubmittersRCV000652920 RCV005240396 RCV002307578 RCV003389058

NM_004370.6(COL12A1):c.3245C>G (p.Thr1082Arg)

SNV
Germline

Chr6:75156262

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3893781

rs_762817385

3 SubmittersRCV000652917 RCV001584508 RCV005240395

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
COL12A1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA3892729

rs_151324784

6 SubmittersRCV000652952 RCV001079350 RCV004745536 RCV005240399

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3894086

rs_764241362

4 SubmittersRCV000652908 RCV002466556 RCV004972830

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

3 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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3894475

rs_558571598

3 SubmittersRCV000652910 RCV002534186 RCV004692048

NM_001848.3(COL6A1):c.624G>A (p.Thr208=)

SNV
Germline

Chr21:45986979

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10069637

rs_573282005

4 SubmittersRCV000733315 RCV001493896 RCV005318475

NM_001848.3(COL6A1):c.2852C>T (p.Thr951Met)

SNV
Germline

Chr21:46003778

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10071051

rs_371111712

4 SubmittersRCV000653518 RCV003128682 RCV004800510

NM_001849.4(COL6A2):c.1138C>T (p.Arg380Cys)

SNV
Germline

Chr21:46118635

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071717

rs_142880107

2 SubmittersRCV001584511 RCV000653532

NM_001848.3(COL6A1):c.609C>T (p.Ile203=)

SNV
Germline

Chr21:45986964

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10069634

rs_369590506

2 SubmittersRCV002060777 RCV000731455

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
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10069602

rs_754667407

3 SubmittersRCV000653593 RCV003144455 RCV002534200

NM_001848.3(COL6A1):c.930+189C>T

SNV
Germline

Chr21:45989967

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA658799468

rs_1556425596

10 SubmittersRCV001334958 RCV000653589 RCV000728981 RCV005409704

NM_001848.3(COL6A1):c.1681G>A (p.Asp561Asn)

SNV
Germline

Chr21:45999159

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10070492

rs_140517685

3 SubmittersRCV000653560 RCV003144451 RCV004735722

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

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

Criteria Provided
Conflicting Classifications

CA10072339

rs_148178994

3 SubmittersRCV001087191 RCV000733408 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

2 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
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10072936

rs_777822883

3 SubmittersRCV000653584 RCV003144452 RCV004735723

NM_004370.6(COL12A1):c.4957+1G>A

SNV
Germline

Chr6:75142031

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364740339

rs_1366112521

2 SubmittersRCV000659057 RCV005223087

NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val)

SNV
Germline

Chr6:75180995

Conflicting classifications of pathogenicity

Bethlem myopathy 2
Ullrich congenital muscular dystrophy
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
COL12A1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA364766180

rs_1013873051

4 SubmittersRCV000661959 RCV000661958 RCV000691825 RCV003411568 RCV003144462

NM_004369.4(COL6A3):c.8416G>A (p.Glu2806Lys)

SNV
Germline

Chr2:237340500

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2187555

rs_775200499

3 SubmittersRCV000693375 RCV003140098 RCV004609489

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

CA2187849

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

CA2188986

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

CA501033

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

CA2189144

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

CA2189346

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

CA2187368

rs_371006546

4 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

CA2188028

rs_111927395

3 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

CA351216186

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

CA351217740

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

CA2189205

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

CA2189314

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

CA351215360

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

CA3892100

rs_199702595

6 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
not specified

Criteria Provided
Conflicting Classifications

CA3892218

rs_369104842

5 SubmittersRCV000690474 RCV003144506 RCV005418302

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
not specified

Criteria Provided
Conflicting Classifications

CA3892302

rs_190917891

6 SubmittersRCV000702920 RCV003144560 RCV005418315

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

CA3892702

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

CA3893075

rs_770194625

3 SubmittersRCV000705454 RCV001797135

NM_004370.6(COL12A1):c.4010A>G (p.Asn1337Ser)

SNV
Germline

Chr6:75151278

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA364747334

rs_1187079906

2 SubmittersRCV000684866 RCV004972849

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
COL12A1-related disorder

Criteria Provided
Conflicting Classifications

CA3893612

rs_187358458

7 SubmittersRCV000697688 RCV000998650 RCV004745556

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3894007

rs_370256196

3 SubmittersRCV000686039 RCV001193906 RCV005540139

NM_004370.6(COL12A1):c.1471G>C (p.Glu491Gln)

SNV
Germline

Chr6:75183470

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3894192

rs_367630003

5 SubmittersRCV000695719 RCV001592886 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

CA3892242

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

CA364747208

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
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3893654

rs_748277540

4 SubmittersRCV000700949 RCV004026535 RCV004721565 RCV005418313

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

CA3893997

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
Condition: not provided
Ullrich congenital muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA3894246

rs_202175607

5 SubmittersRCV000694923 RCV001556084 RCV001331209

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

CA364729833

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA67852675

rs_540633944

4 SubmittersRCV000690908 RCV001531518 RCV005532736

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

CA351216215

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

CA2188390

rs_113896755

4 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

CA2188609

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

CA2188723

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
COL6A3-related disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189338

rs_189356869

6 SubmittersRCV000696514 RCV000785110 RCV004547861 RCV002289973 RCV002533454

NM_004369.4(COL6A3):c.2195C>T (p.Thr732Met)

SNV
Germline

Chr2:237378938

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2189459

rs_370719148

5 SubmittersRCV001136989 RCV000694691 RCV001546077 RCV004547860

NM_004369.4(COL6A3):c.1699C>T (p.Gln567Ter)

SNV
Germline

Chr2:237381113

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA351217225

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

CA3891981

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

CA3892026

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

CA3892533

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

CA364738456

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
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3893444

rs_760640025

3 SubmittersRCV000705382 RCV005540149 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

CA364750453

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

CA3893940

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
COL12A1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA3893943

rs_201662983

6 SubmittersRCV000704914 RCV001759413 RCV004026673 RCV004745561 RCV005407905

NM_004370.6(COL12A1):c.2180G>A (p.Arg727Gln)

SNV
Germline

Chr6:75177920

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3894034

rs_775023310

2 SubmittersRCV000701222 RCV004783843

NM_004370.6(COL12A1):c.5987C>T (p.Pro1996Leu)

SNV
Germline

Chr6:75130932

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3892936

rs_752189896

2 SubmittersRCV000686344 RCV004794439

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

CA3893621

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

Criteria Provided
Conflicting Classifications

CA3893847

rs_201996851

5 SubmittersRCV000706135 RCV002508944 RCV002534455 RCV003144567 RCV005418317

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
not specified

Criteria Provided
Conflicting Classifications

CA3893883

rs_369193482

5 SubmittersRCV000703971 RCV002305531 RCV005240497

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

CA3894312

rs_116980451

6 SubmittersRCV000686474 RCV001584554

NM_001848.3(COL6A1):c.1576-1G>A

SNV
Germline

Chr21:45998397

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410530193

rs_112814811

1 SubmittersRCV000699822

NM_001848.3(COL6A1):c.2857G>T (p.Ala953Ser)

SNV
Germline

Chr21:46003783

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10071054

rs_150378645

2 SubmittersRCV000687871 RCV005223121

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

CA10071353

rs_559666084

5 SubmittersRCV000704553 RCV000733182

NM_001849.4(COL6A2):c.839G>A (p.Gly280Asp)

SNV
Germline

Chr21:46115909

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA410524811

rs_1568928804

2 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

CA10073144

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

CA410532902

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

CA10071026

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

CA10071083

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

CA410530373

rs_752730608

1 SubmittersRCV000692014

NM_001848.3(COL6A1):c.331G>A (p.Asp111Asn)

SNV
Germline

Chr21:45984372

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA410516055

rs_1309822720

3 SubmittersRCV000692099 RCV003144515 RCV002531441

NM_001848.3(COL6A1):c.344G>A (p.Ser115Asn)

SNV
Germline

Chr21:45984385

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10069539

rs_372627181

3 SubmittersRCV000699825 RCV001531973 RCV005318488

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

CA10071115

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
not specified

Criteria Provided
Conflicting Classifications

CA10071688

rs_768542626

4 SubmittersRCV000689566 RCV001334959 RCV002477546 RCV005240471

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
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA10071866

rs_374669775

5 SubmittersRCV000685322 RCV001311585 RCV003989581 RCV005091997

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

CA10069650

rs_770597799

2 SubmittersRCV000706181 RCV000710886

NM_001848.3(COL6A1):c.788G>T (p.Gly263Val)

SNV
Germline

Chr21:45987638

Pathogenic/Likely pathogenic

Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA410520838

rs_886043351

2 SubmittersRCV000691514 RCV005092007

NM_001848.3(COL6A1):c.814G>C (p.Gly272Arg)

SNV
Germline

Chr21:45989093

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410521410

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

CA10070164

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

CA410527227

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10071332

rs_374504636

4 SubmittersRCV000695563 RCV003144530 RCV004972868

NM_001849.4(COL6A2):c.2153G>A (p.Ser718Asn)

SNV
Germline

Chr21:46125968

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10072451

rs_368641951

5 SubmittersRCV003144563 RCV000703514 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

CA10073029

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

CA10073077

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189001

rs_143459232

3 SubmittersRCV000727632 RCV001868924 RCV005540152

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

CA10071035

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

CA321971853

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

CA321980369

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

CA10069595

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

CA10070936

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2188977

rs_755091615

4 SubmittersRCV000728176 RCV001868928 RCV004609507

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

CA2189471

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

CA10070440

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

CA10070787

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

CA913189745

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

CA431678526

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

CA2188984

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

CA10069584

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

CA10072507

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

CA10070990

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

CA10069755

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

CA10071214

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

CA431712041

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

CA540462194

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

CA2189716

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

CA2189337

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

CA10071075

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

CA10070776

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

CA431698450

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

CA10069640

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

CA410533518

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

CA10071906

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

CA10071607

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

CA10071487

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

CA10069543

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

CA410521883

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

CA351185169

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

CA410516292

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

CA2189485

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

CA2189373

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

CA431711615

rs_1434102843

2 SubmittersRCV000732407 RCV002535272

NM_001848.3(COL6A1):c.2050G>A (p.Val684Met)

SNV
Germline

Chr21:46002054

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070734

rs_138312247

2 SubmittersRCV000732422 RCV000792637

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

CA10072291

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

CA2188148

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

CA10071677

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

CA2188680

rs_772890888

4 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

CA512727723

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

CA10071030

rs_144671871

3 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

CA2188058

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

CA10071222

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

CA2189968

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

CA2188572

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

CA431676762

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

CA2188968

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

CA10072344

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

CA10070769

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

CA10070495

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

CA2188903

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

CA10070463

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

CA10072409

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

CA2187452

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

CA2189201

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

CA10071009

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

CA2189506

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

CA10069942

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

CA410525130

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

CA321959933

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

CA2187901

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

CA10070201

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

CA2188681

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
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10073001

rs_747734639

3 SubmittersRCV000733880 RCV001137048 RCV001088023

NM_001848.3(COL6A1):c.434C>G (p.Ser145Cys)

SNV
Germline

Chr21:45986531

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA321958521

rs_781164042

2 SubmittersRCV000734079 RCV005092152

NM_001848.3(COL6A1):c.2713G>A (p.Asp905Asn)

SNV
Germline

Chr21:46003639

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10071010

rs_149331149

4 SubmittersRCV000734244 RCV000799978 RCV004609515

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

CA10070307

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

CA2187288

rs_113422196

3 SubmittersRCV000734364 RCV002067166 RCV004547938

NM_001848.3(COL6A1):c.434C>T (p.Ser145Phe)

SNV
Germline

Chr21:45986531

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA410517627

rs_781164042

2 SubmittersRCV000734650 RCV005092156

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

CA10071284

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

CA10070722

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

CA10069544

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

CA10069651

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA67816216

rs_904372024

5 SubmittersRCV000735177 RCV000804355 RCV004609516

NM_001848.3(COL6A1):c.739-2A>G

SNV
Germline

Chr21:45987497

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410519585

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

CA410537980

rs_751987553

1 SubmittersRCV000754719 RCV000754726

NM_001849.4(COL6A2):c.2891T>C (p.Met964Thr)

SNV
Germline

Chr21:46132383

Conflicting classifications of pathogenicity

Myosclerosis
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA410549947

rs_1427750922

3 SubmittersRCV000754727 RCV005357981 RCV001855854

NM_001849.4(COL6A2):c.1770+1G>A

SNV
Germline

Chr21:46124921

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA321971830

rs_752803039

2 SubmittersRCV002263970 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

CA2188514

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

CA658655611

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

CA2187488

rs_367635298

2 SubmittersRCV000816271 RCV003145189

NM_004369.4(COL6A3):c.8045C>T (p.Pro2682Leu)

SNV
Germline

Chr2:237340871

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2187636

rs_761740861

2 SubmittersRCV000824279 RCV005409753

NM_004369.4(COL6A3):c.6309G>A (p.Lys2103=)

SNV
Germline

Chr2:237359362

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA431678349

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

CA351216228

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

CA2188397

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

CA2188471

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

Criteria Provided
Conflicting Classifications

CA2188672

rs_781624176

4 SubmittersRCV000812542 RCV003145173 RCV001143251 RCV002538124

NM_004369.4(COL6A3):c.5244T>A (p.Phe1748Leu)

SNV
Germline

Chr2:237366943

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2188713

rs_777266074

2 SubmittersRCV000800086 RCV005318531

NM_004369.4(COL6A3):c.3790G>A (p.Val1264Met)

SNV
Germline

Chr2:237372227

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2189072

rs_541703064

3 SubmittersRCV000823856 RCV001535668 RCV004726695

NM_004369.4(COL6A3):c.3651G>T (p.Gln1217His)

SNV
Germline

Chr2:237374440

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189125

rs_115065877

3 SubmittersRCV000799795 RCV004711304 RCV005318530

NM_004369.4(COL6A3):c.2959G>A (p.Val987Met)

SNV
Germline

Chr2:237376883

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189283

rs_140437593

3 SubmittersRCV000812938 RCV003145175 RCV002538138

NM_004369.4(COL6A3):c.2431C>T (p.Gln811Ter)

SNV
Germline

Chr2:237378702

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA351212497

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

CA2189425

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
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA2189473

rs_780115806

3 SubmittersRCV000792104 RCV003141773 RCV005626214

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

CA2189486

rs_762162177

4 SubmittersRCV000807560 RCV001558584 RCV002537255

NM_004369.4(COL6A3):c.1906A>G (p.Asn636Asp)

SNV
Germline

Chr2:237379227

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189513

rs_111379417

2 SubmittersRCV000810338 RCV005318536

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

CA2189556

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

CA2189780

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

CA2189868

rs_536452909

2 SubmittersRCV000793858 RCV003432767

NM_004369.4(COL6A3):c.289C>T (p.Arg97Cys)

SNV
Germline

Chr2:237395007

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
not specified

Criteria Provided
Conflicting Classifications

CA2189897

rs_144651558

2 SubmittersRCV000812051 RCV005432443

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

CA2189907

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

CA3892090

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

CA3892104

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
COL12A1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3892137

rs_371399251

3 SubmittersRCV000796327 RCV003411750 RCV003148865

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

CA3892434

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

CA3892668

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

CA3892696

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
not specified

Criteria Provided
Conflicting Classifications

CA3892753

rs_199654252

4 SubmittersRCV000795337 RCV001548162 RCV005432424

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
not specified

Criteria Provided
Conflicting Classifications

CA3892899

rs_34336755

4 SubmittersRCV000797248 RCV001558174 RCV005432427

NM_004370.6(COL12A1):c.5840C>T (p.Pro1947Leu)

SNV
Germline

Chr6:75132037

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

CA3892988

rs_768626277

2 SubmittersRCV000797343 RCV005359541

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
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

CA3893068

rs_565471668

3 SubmittersRCV000808585 RCV003145161 RCV005359563

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

CA3893070

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
not specified

Criteria Provided
Conflicting Classifications

CA3893133

rs_200091648

6 SubmittersRCV000821770 RCV001585761 RCV003392625 RCV005407996

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

CA3893223

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

CA3893230

rs_776561287

2 SubmittersRCV000810411 RCV002510984

NM_004370.6(COL12A1):c.5207A>G (p.Asp1736Gly)

SNV
Germline

Chr6:75138471

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3893231

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3893240

rs_373020081

3 SubmittersRCV000800122 RCV001569003 RCV004972964

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

CA3893244

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

CA3893247

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

CA3893310

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

CA3893322

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

CA3893345

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

CA3893385

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

CA3893406

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

CA364744825

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

CA3893598

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

CA364749455

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

CA3893671

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

CA3893792

rs_374540275

5 SubmittersRCV000818667 RCV002255168

NM_004370.6(COL12A1):c.2798G>A (p.Arg933His)

SNV
Germline

Chr6:75165692

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3893872

rs_779848906

2 SubmittersRCV000823380 RCV005423026

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

CA3893873

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
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

CA3894006

rs_200167099

5 SubmittersRCV000812517 RCV002537374 RCV003225130 RCV004789215

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

CA3894057

rs_768052470

4 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

CA3894255

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

CA3894500

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

CA3894512

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

CA3894514

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
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA141009427

rs_576888932

4 SubmittersRCV000817608 RCV001823169 RCV004609547 RCV005240613

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

CA364734274

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

CA410513938

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

CA10069513

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10069531

rs_568865339

5 SubmittersRCV000802168 RCV001140699 RCV003144620 RCV004972971

NM_001848.3(COL6A1):c.878G>A (p.Gly293Glu)

SNV
Germline

Chr21:45989627

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410521782

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

CA410521814

rs_1603590649

2 SubmittersRCV000813720 RCV001729711

NM_001848.3(COL6A1):c.1160G>A (p.Ser387Asn)

SNV
Germline

Chr21:45992050

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10070122

rs_756884829

3 SubmittersRCV000803185 RCV003166225 RCV005603665

NM_001848.3(COL6A1):c.1315C>T (p.Arg439Trp)

SNV
Germline

Chr21:45992790

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA321967348

rs_368239109

2 SubmittersRCV001796253 RCV000820060

NM_001848.3(COL6A1):c.1979C>T (p.Ala660Val)

SNV
Germline

Chr21:46001983

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10070708

rs_748997622

2 SubmittersRCV000810066 RCV004972988

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

CA10070712

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

CA410539295

rs_751124572

4 SubmittersRCV000804645 RCV001198711 RCV001531975

NM_001848.3(COL6A1):c.2743G>A (p.Asp915Asn)

SNV
Germline

Chr21:46003669

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Collagen 6-related myopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10071018

rs_763910773

3 SubmittersRCV000815044 RCV005359583 RCV005540192

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

CA10071298

rs_751410120

3 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

CA10071335

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

CA10071534

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

CA10072068

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

CA10072925

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

CA10072927

rs_201035005

2 SubmittersRCV000815789 RCV003145186

NM_001849.4(COL6A2):c.2863G>A (p.Asp955Asn)

SNV
Germline

Chr21:46132355

Conflicting classifications of pathogenicity

Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10073065

rs_773407652

2 SubmittersRCV004609529 RCV000799455

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

CA10073107

rs_140020002

3 SubmittersRCV000794099 RCV003144592

NM_001849.4(COL6A2):c.2977C>T (p.Arg993Cys)

SNV
Germline

Chr21:46132469

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10073121

rs_532656197

4 SubmittersRCV000814216 RCV003141832 RCV001535442

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

SNV
Germline

Chr21:45990771

Pathogenic

Bethlem myopathy 1A
COL6A1-related disorder

Criteria Provided
Single Submitter

CA410523311

rs_797045477

2 SubmittersRCV000808978 RCV004735816

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

SNV
Germline

Chr21:45990772

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410523314

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

CA321972427

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

CA410529717

rs_1601232289

1 SubmittersRCV000801168

NM_001849.4(COL6A2):c.736-1G>C

SNV
Germline

Chr21:46114007

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410523352

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

CA364739172

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

CA2189751

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

CA3892348

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

CA3892698

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
not specified

Criteria Provided
Conflicting Classifications

CA3893081

rs_200029869

4 SubmittersRCV000878942 RCV003145226 RCV003908374 RCV005236384

NM_004370.6(COL12A1):c.4422A>G (p.Pro1474=)

SNV
Germline

Chr6:75146240

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
COL12A1-related disorder

Criteria Provided
Conflicting Classifications

CA3893448

rs_558383133

3 SubmittersRCV002064875 RCV004761844 RCV003967939

NM_001848.3(COL6A1):c.594G>A (p.Pro198=)

SNV
Germline

Chr21:45986949

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10069630

rs_376592866

2 SubmittersRCV001142577 RCV001431363

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
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA10070728

rs_377455608

6 SubmittersRCV000878284 RCV001084612 RCV002539261 RCV005359634

NM_001849.4(COL6A2):c.522G>A (p.Lys174=)

SNV
Germline

Chr21:46112385

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
COL6A2-related disorder

Criteria Provided
Conflicting Classifications

CA10071317

rs_554016354

2 SubmittersRCV002539231 RCV004530855

NM_001849.4(COL6A2):c.525G>A (p.Leu175=)

SNV
Germline

Chr21:46112388

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10071318

rs_754034094

2 SubmittersRCV001462119 RCV005423073

NM_004369.4(COL6A3):c.5975T>C (p.Met1992Thr)

SNV
Germline

Chr2:237363341

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Dystonia 27

Criteria Provided
Conflicting Classifications

CA2188508

rs_375613015

2 SubmittersRCV000945350 RCV005367643

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

CA2189708

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

CA3893657

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

CA2189327

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

CA3894368

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

CA2187753

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189354

rs_550122375

3 SubmittersRCV000904483 RCV001143558 RCV005540211

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

CA3893287

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2188852

rs_199759398

4 SubmittersRCV000924121 RCV001726374 RCV002298800 RCV005318560

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

CA513170053

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

CA10071555

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

CA2189910

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

CA2188007

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

CA2189912

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

CA3893999

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

CA3894002

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

CA3894187

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

CA351216223

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

CA410521752

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

CA410525578

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

CA3893701

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

CA10070232

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10072907

rs_376841327

3 SubmittersRCV000997846 RCV001869400 RCV005318568

NM_004369.4(COL6A3):c.1840C>T (p.Gln614Ter)

SNV
Germline

Chr2:237380972

Pathogenic

Bethlem myopathy 1A

No Assertion Criteria Provided

CA351215616

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

CA2187235

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

CA351201437

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

CA2188317

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

CA2188585

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

CA2188602

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
Condition: not provided
Inborn genetic diseases
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2188634

rs_531282669

4 SubmittersRCV001063898 RCV003145323 RCV002554459 RCV004547971

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

CA2188832

rs_200825417

2 SubmittersRCV001053143 RCV002553749

NM_004369.4(COL6A3):c.4595C>T (p.Ala1532Val)

SNV
Germline

Chr2:237368868

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2188859

rs_372247515

5 SubmittersRCV001141517 RCV002291717 RCV001071004 RCV002555902

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

CA2189318

rs_774872934

2 SubmittersRCV001045542 RCV004553581

NM_004369.4(COL6A3):c.2320T>C (p.Phe774Leu)

SNV
Germline

Chr2:237378813

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2189428

rs_572969883

3 SubmittersRCV001071432 RCV001143561 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

CA2189465

rs_377632042

2 SubmittersRCV001037083 RCV002245838

NM_004369.4(COL6A3):c.1825C>T (p.Arg609Ter)

SNV
Germline

Chr2:237380987

Pathogenic/Likely pathogenic

Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1C
COL6A3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2189550

rs_755382829

3 SubmittersRCV001063703 RCV005367704 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

CA2189576

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

CA2189585

rs_757748748

2 SubmittersRCV001068806 RCV002555872

NM_004369.4(COL6A3):c.1420A>G (p.Arg474Gly)

SNV
Germline

Chr2:237381392

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA67830825

rs_928706699

2 SubmittersRCV001068649 RCV005318604

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
COL12A1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3892217

rs_200375837

5 SubmittersRCV001036304 RCV004746203 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

CA364739523

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

CA141010796

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

CA3892559

rs_183898615

2 SubmittersRCV001042492 RCV003145274

NM_004370.6(COL12A1):c.6422C>T (p.Ser2141Phe)

SNV
Germline

Chr6:75126389

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3892817

rs_772205982

2 SubmittersRCV001054738 RCV005318592

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

CA3892849

rs_754228661

4 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

CA3893015

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

CA3893115

rs_200108494

6 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

CA3893353

rs_772069524

3 SubmittersRCV001046112 RCV003145283

NM_004370.6(COL12A1):c.4675G>A (p.Val1559Ile)

SNV
Germline

Chr6:75145341

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
COL12A1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3893386

rs_373826197

3 SubmittersRCV001049374 RCV004746213 RCV004792668

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

CA3893394

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
Bethlem myopathy 2
Ullrich congenital muscular dystrophy

Criteria Provided
Conflicting Classifications

CA3893400

rs_373216375

4 SubmittersRCV001040597 RCV003145267 RCV003160265 RCV005429045

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

CA364745462

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

CA3893660

rs_746929943

3 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
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3893706

rs_764153192

4 SubmittersRCV001042896 RCV001571233 RCV005236552 RCV004973272

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

CA3893780

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

CA3893963

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

CA3894081

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

CA3894145

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

CA3894237

rs_757252832

3 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

CA3894349

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

CA410517865

rs_1471465037

2 SubmittersRCV001046517 RCV001729783

NM_001848.3(COL6A1):c.532G>A (p.Glu178Lys)

SNV
Germline

Chr21:45986629

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10069598

rs_749929221

2 SubmittersRCV001072017 RCV005540272

NM_001848.3(COL6A1):c.706G>A (p.Val236Met)

SNV
Germline

Chr21:45987061

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA10069653

rs_145269003

2 SubmittersRCV001051692 RCV004789384

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

CA10069751

rs_757791812

3 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

CA410521718

rs_2077761954

2 SubmittersRCV001039119 RCV003989629

NM_001848.3(COL6A1):c.895G>A (p.Gly299Arg)

SNV
Germline

Chr21:45989644

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA410521843

rs_2077762322

2 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
Inborn genetic diseases
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A

Criteria Provided
Conflicting Classifications

CA10070498

rs_201227573

5 SubmittersRCV001042836 RCV001142786 RCV003145276 RCV004973271 RCV003483761

NM_001848.3(COL6A1):c.1940G>A (p.Arg647Gln)

SNV
Germline

Chr21:46001370

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10070658

rs_764762208

3 SubmittersRCV001062877 RCV002555815 RCV003145321

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

CA321978227

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

CA10070859

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10071084

rs_746877994

4 SubmittersRCV001036854 RCV001138244 RCV002551368 RCV005243454

NM_001849.4(COL6A2):c.356T>C (p.Ile119Thr)

SNV
Germline

Chr21:46112219

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10071274

rs_374011338

5 SubmittersRCV001045340 RCV003145278 RCV002553120

NM_001849.4(COL6A2):c.403G>A (p.Asp135Asn)

SNV
Germline

Chr21:46112266

Conflicting classifications of pathogenicity

Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA321957225

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

CA10071323

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

CA410523569

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

CA512725453

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

CA410524716

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

CA410525346

rs_797045478

1 SubmittersRCV001060930

NM_001849.4(COL6A2):c.1237G>A (p.Gly413Arg)

SNV
Germline

Chr21:46119087

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA10071776

rs_762490709

2 SubmittersRCV001070881 RCV005626324

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

CA10072112

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10072174

rs_375966817

3 SubmittersRCV001036278 RCV003145260 RCV004609580

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

CA10072212

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

CA10072329

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

CA10072981

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

CA10073008

rs_372523558

4 SubmittersRCV001058980 RCV003145317 RCV004031860

NM_001849.4(COL6A2):c.3038G>A (p.Arg1013His)

SNV
Germline

Chr21:46132530

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10073152

rs_751512548

2 SubmittersRCV001069392 RCV004030709

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

CA364740808

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

CA364741445

rs_1768702301

1 SubmittersRCV001046111

NM_001848.3(COL6A1):c.804+1G>A

SNV
Germline

Chr21:45987655

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA410520958

rs_1385646650

2 SubmittersRCV001036325

NM_001849.4(COL6A2):c.856-2A>G

SNV
Germline

Chr21:46116007

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410525046

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

CA410535272

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

CA410528410

rs_2078514224

1 SubmittersRCV001056424

NM_001849.4(COL6A2):c.714+1G>C

SNV
Germline

Chr21:46112578

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410523248

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

CA364740323

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

CA410521350

rs_2077759104

2 SubmittersRCV001091475 RCV001862695

NM_004369.4(COL6A3):c.8310G>A (p.Val2770=)

SNV
Germline

Chr2:237340606

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA67835585

rs_766217603

2 SubmittersRCV001138188 RCV001215355

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

CA2187716

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

CA2188169

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

CA2188334

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

CA2188637

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

CA2188690

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

CA2188746

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

CA431711502

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

CA2189348

rs_201327438

5 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

CA2189772

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

CA2189826

rs_749985039

2 SubmittersRCV001143772 RCV001202709

NM_001848.3(COL6A1):c.2030G>A (p.Arg677His)

SNV
Germline

Chr21:46002034

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070723

rs_373731596

2 SubmittersRCV001141029 RCV005093629

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

CA10071107

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

CA10071257

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

CA10071337

rs_765361834

2 SubmittersRCV001136628 RCV001214406

NM_001849.4(COL6A2):c.620C>T (p.Thr207Met)

SNV
Germline

Chr21:46112483

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10071350

rs_760395633

3 SubmittersRCV001219858 RCV001136629 RCV001546616

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

CA10071686

rs_368588676

4 SubmittersRCV001143312 RCV001882441 RCV003346334

NM_001849.4(COL6A2):c.1341T>C (p.Pro447=)

SNV
Germline

Chr21:46120523

Conflicting classifications of pathogenicity

Myosclerosis
Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071840

rs_751688085

2 SubmittersRCV001136742 RCV001136743 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

CA10072075

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

CA10072161

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

CA10072304

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

CA2188178

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

CA2188949

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

CA2188952

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

CA321954365

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

CA638177757

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

CA10070606

rs_566601241

2 SubmittersRCV001138045 RCV002070619

NM_001849.4(COL6A2):c.714+13C>T

SNV
Germline

Chr21:46112590

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA321957475

rs_989554566

2 SubmittersRCV001138884 RCV005093617

NM_001849.4(COL6A2):c.1396-11C>T

SNV
Germline

Chr21:46121050

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071862

rs_756557942

2 SubmittersRCV001138978 RCV005056927

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

CA3892058

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

CA364748243

rs_1304140510

4 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

CA2188085

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

CA2188707

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

CA2188597

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189371

rs_147897225

5 SubmittersRCV001224491 RCV001547869 RCV004978146

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

CA351211575

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189906

rs_369814614

4 SubmittersRCV001215986 RCV001751402 RCV004978121

NM_004370.6(COL12A1):c.8365G>C (p.Gly2789Arg)

SNV
Germline

Chr6:75102647

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA364739609

rs_1768359621

3 SubmittersRCV001220502 RCV001555562 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

CA364729171

rs_1765909471

1 SubmittersRCV001216731

NM_004370.6(COL12A1):c.5187T>A (p.Pro1729=)

SNV
Germline

Chr6:75138491

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Condition: not provided
COL12A1-related disorder

Criteria Provided
Conflicting Classifications

CA3893234

rs_763294691

3 SubmittersRCV001216842 RCV001751407 RCV004746275

NM_004370.6(COL12A1):c.5180T>G (p.Ile1727Ser)

SNV
Germline

Chr6:75138498

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3893236

rs_752550335

3 SubmittersRCV001218713 RCV004774315 RCV004978126

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

CA3893512

rs_200125060

4 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

CA3893653

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

CA3893952

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

CA3893992

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

CA141025236

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

CA3894146

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

CA3894479

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

CA10069430

rs_775946362

2 SubmittersRCV001217320 RCV002561922

NM_001848.3(COL6A1):c.508G>C (p.Gly170Arg)

SNV
Germline

Chr21:45986605

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10069594

rs_370889024

2 SubmittersRCV001221475 RCV005318660

NM_001848.3(COL6A1):c.878G>T (p.Gly293Val)

SNV
Germline

Chr21:45989627

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410521785

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

CA10070228

rs_753297152

5 SubmittersRCV001218445 RCV002281170 RCV003284068

NM_001849.4(COL6A2):c.425C>T (p.Thr142Met)

SNV
Germline

Chr21:46112288

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA321957255

rs_866311790

2 SubmittersRCV001216797 RCV005318657

NM_001849.4(COL6A2):c.803G>T (p.Gly268Val)

SNV
Germline

Chr21:46115873

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410524590

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

CA10071873

rs_373846012

2 SubmittersRCV001215778 RCV003142156

NM_001849.4(COL6A2):c.1598G>A (p.Arg533His)

SNV
Germline

Chr21:46122521

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10072015

rs_781676156

2 SubmittersRCV001222949 RCV004809536

NM_001849.4(COL6A2):c.2035G>A (p.Glu679Lys)

SNV
Germline

Chr21:46125850

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10072421

rs_763502626

2 SubmittersRCV001223089 RCV005540321

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

CA2187462

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

CA2187494

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

CA351195546

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

CA2187764

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2187841

rs_772077690

3 SubmittersRCV001213965 RCV001732073 RCV004978115

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

SNV
Germline

Chr2:237361739

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA351217638

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

CA2188755

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189302

rs_543253703

3 SubmittersRCV001210462 RCV003490123 RCV004978106

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

CA364731121

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

CA3893389

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

CA141002426

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

CA3893804

rs_575168916

3 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

CA3894257

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

CA410523700

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

CA10070575

rs_201365474

2 SubmittersRCV001211309 RCV002562371

NM_001848.3(COL6A1):c.2062A>C (p.Lys688Gln)

SNV
Germline

Chr21:46002066

Conflicting classifications of pathogenicity

Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070736

rs_774361880

2 SubmittersRCV004033705 RCV001207609

NM_001848.3(COL6A1):c.2965G>A (p.Gly989Ser)

SNV
Germline

Chr21:46003891

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071089

rs_138652066

2 SubmittersRCV004720085 RCV001202952

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

CA10071118

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

CA10071287

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

CA410524896

rs_886044088

1 SubmittersRCV001207655

NM_004369.4(COL6A3):c.6156+1G>T

SNV
Germline

Chr2:237361738

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA351217636

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

CA410519397

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

CA364739411

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

CA364739955

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

CA410523516

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

CA2187977

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

CA2188453

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

CA2189003

rs_140863092

2 SubmittersRCV001229622 RCV003145435

NM_004369.4(COL6A3):c.2902G>A (p.Val968Ile)

SNV
Germline

Chr2:237376940

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases
Dystonia 27

Criteria Provided
Conflicting Classifications

CA2189296

rs_202122047

3 SubmittersRCV001233879 RCV005318675 RCV005367778

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

CA2189468

rs_748641277

3 SubmittersRCV001229286 RCV002563722 RCV003142190

NM_004369.4(COL6A3):c.1874G>C (p.Arg625Thr)

SNV
Germline

Chr2:237380938

Conflicting classifications of pathogenicity

Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189536

rs_61729841

2 SubmittersRCV004034583 RCV001238642

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

CA2189584

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

CA3892944

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

CA3893807

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

CA3893852

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

CA3893922

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

CA3893938

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

CA10073042

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

CA10073054

rs_111630733

2 SubmittersRCV001237578 RCV003145457

NM_004370.6(COL12A1):c.9144G>C (p.Gln3048His)

SNV
Germline

Chr6:75087614

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3892013

rs_57396313

2 SubmittersRCV001245394 RCV004590275

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
not specified

Criteria Provided
Conflicting Classifications

CA3892457

rs_200751269

5 SubmittersRCV001239226 RCV002305578 RCV004034603 RCV005408773

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
COL12A1-related disorder

Criteria Provided
Conflicting Classifications

CA3893626

rs_199692759

5 SubmittersRCV001246276 RCV001760284 RCV004034859 RCV004746292

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
COL12A1-related disorder

Criteria Provided
Conflicting Classifications

CA3894495

rs_371298920

3 SubmittersRCV001240667 RCV001541234 RCV004746288

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

CA10070120

rs_765631918

2 SubmittersRCV001248386 RCV003490157

NM_001848.3(COL6A1):c.1657G>A (p.Gly553Arg)

SNV
Germline

Chr21:45998942

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA410530611

rs_2077822326

2 SubmittersRCV001247021 RCV003333694

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

CA10071061

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

CA410541360

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

CA10071481

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

CA410538469

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

CA410521326

rs_398123639

1 SubmittersRCV001232954

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

SNV
Germline

Chr21:45990829

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA1139666909

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

CA10071568

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

CA410521324

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

CA10071788

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
Ullrich congenital muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA364732273

rs_1766265062

3 SubmittersRCV001267560 RCV002537700 RCV004789504

NM_004369.4(COL6A3):c.8854G>A (p.Val2952Ile)

SNV
Germline

Chr2:237336246

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2187430

rs_536607503

3 SubmittersRCV001302333 RCV003145533 RCV004609738

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

CA2187828

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

CA2188998

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

CA2189604

rs_369379463

2 SubmittersRCV001294739 RCV001760334

NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val)

SNV
Germline

Chr2:237387626

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2189670

rs_181264679

4 SubmittersRCV002541940 RCV002509653 RCV001301009 RCV002493588

NM_004370.6(COL12A1):c.8857G>T (p.Ala2953Ser)

SNV
Germline

Chr6:75090194

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3892093

rs_201760746

2 SubmittersRCV001298336 RCV004609733

NM_004370.6(COL12A1):c.5614C>T (p.Arg1872Cys)

SNV
Germline

Chr6:75133908

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3893076

rs_773807635

2 SubmittersRCV001299252 RCV004978260

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

CA3894220

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

CA10069649

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

CA10070397

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

CA10070796

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

CA10071815

rs_773161640

3 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

CA10072426

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10072915

rs_373862445

3 SubmittersRCV001304296 RCV002282512 RCV005318719

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

CA10072975

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

CA410521815

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

CA2188972

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
Dystonia 27

Criteria Provided
Conflicting Classifications

CA2189221

rs_774406266

4 SubmittersRCV001321792 RCV003324825 RCV004035041 RCV005369818

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
COL6A3-related disorder

Criteria Provided
Conflicting Classifications

CA2189633

rs_374134397

5 SubmittersRCV001313188 RCV002267105 RCV002545054 RCV004738242

NM_004370.6(COL12A1):c.4650C>G (p.His1550Gln)

SNV
Germline

Chr6:75145366

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3893391

rs_754993978

2 SubmittersRCV001327377 RCV004978336

NM_004370.6(COL12A1):c.1772C>G (p.Pro591Arg)

SNV
Germline

Chr6:75183169

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3894141

rs_752633980

2 SubmittersRCV001321970 RCV005318741

NM_004370.6(COL12A1):c.569C>A (p.Thr190Asn)

SNV
Germline

Chr6:75189641

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3894399

rs_759905934

3 SubmittersRCV001319845 RCV004793421

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

CA10070234

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
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10071106

rs_780139552

3 SubmittersRCV001323320 RCV003151852 RCV002545123

NM_001848.3(COL6A1):c.3077C>T (p.Ala1026Val)

SNV
Germline

Chr21:46004003

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10071122

rs_767414809

3 SubmittersRCV001312268 RCV003490180 RCV004699297

NM_004369.4(COL6A3):c.6210+5G>A

SNV
Germline

Chr2:237361116

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA1337618553

rs_886044593

2 SubmittersRCV001327990

NM_004369.4(COL6A3):c.7975C>T (p.Gln2659Ter)

SNV
Unknown

Chr2:237340941

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA351197030

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

CA10070701

rs_375318905

4 SubmittersRCV001328887 RCV002546283 RCV003145576

NM_004369.4(COL6A3):c.9070G>A (p.Val3024Ile)

SNV
Germline

Chr2:237334785

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2187366

rs_769756403

2 SubmittersRCV001338771 RCV004590338

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

CA2189124

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

CA2189273

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

CA2189282

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2189434

rs_200722892

3 SubmittersRCV001337257 RCV002546811 RCV004692579

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

CA2189823

rs_751370730

2 SubmittersRCV001343855 RCV004036408

NM_004370.6(COL12A1):c.7432C>T (p.Arg2478Trp)

SNV
Germline

Chr6:75117469

Conflicting classifications of pathogenicity

Condition: not provided
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases
COL12A1-related disorder

Criteria Provided
Conflicting Classifications

CA3892562

rs_769219928

6 SubmittersRCV001558468 RCV001348049 RCV004611777 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

CA3892783

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

CA3892815

rs_186836845

3 SubmittersRCV001344574 RCV001556940

NM_004370.6(COL12A1):c.5996T>G (p.Leu1999Arg)

SNV
Germline

Chr6:75130923

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
not specified

Criteria Provided
Conflicting Classifications

CA3892933

rs_774159573

2 SubmittersRCV001349611 RCV005438071

NM_004370.6(COL12A1):c.4781G>A (p.Arg1594His)

SNV
Germline

Chr6:75143298

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3893350

rs_373006852

4 SubmittersRCV001352429 RCV001580593 RCV004978398

NM_004370.6(COL12A1):c.3952G>A (p.Ala1318Thr)

SNV
Germline

Chr6:75151915

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3893580

rs_41269309

3 SubmittersRCV001587359 RCV001339229

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

CA10069707

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

CA410528049

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

CA321966698

rs_1035908319

3 SubmittersRCV001349361 RCV001780263 RCV004036581

NM_004370.6(COL12A1):c.1574A>T (p.Tyr525Phe)

SNV
Germline

Chr6:75183367

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3894171

rs_756100330

3 SubmittersRCV001354731 RCV003771035

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

CA2187757

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

CA2188715

rs_756781502

3 SubmittersRCV001363077 RCV003145618

NM_004369.4(COL6A3):c.5230C>T (p.Pro1744Ser)

SNV
Germline

Chr2:237366957

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Dystonia 27

Criteria Provided
Conflicting Classifications

CA2188716

rs_192930227

2 SubmittersRCV001359623 RCV005361561

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

CA2189199

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

CA2189547

rs_372255458

2 SubmittersRCV001373162 RCV002550169

NM_004369.4(COL6A3):c.839G>A (p.Arg280Gln)

SNV
Germline

Chr2:237388055

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189767

rs_370246962

2 SubmittersRCV001370688 RCV005318784

NM_004370.6(COL12A1):c.8563C>T (p.Pro2855Ser)

SNV
Germline

Chr6:75097267

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA364737349

rs_1226171594

2 SubmittersRCV001362991 RCV003145617

NM_004370.6(COL12A1):c.7331C>T (p.Ala2444Val)

SNV
Germline

Chr6:75119066

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3892597

rs_367980407

4 SubmittersRCV001359003 RCV003145609 RCV004978401

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

CA3893014

rs_751986784

2 SubmittersRCV001776231 RCV001373011

NM_004370.6(COL12A1):c.5673C>G (p.Ile1891Met)

SNV
Germline

Chr6:75133414

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3893038

rs_750550229

2 SubmittersRCV001362957 RCV004770106

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

CA3893113

rs_757825778

3 SubmittersRCV001362217 RCV001751712 RCV004036831

NM_004370.6(COL12A1):c.3714T>C (p.Ile1238=)

SNV
Germline

Chr6:75152334

Conflicting classifications of pathogenicity

Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
not specified

Criteria Provided
Conflicting Classifications

CA3893651

rs_752068052

2 SubmittersRCV001361594 RCV005408866

NM_004370.6(COL12A1):c.3372G>A (p.Thr1124=)

SNV
Germline

Chr6:75155733

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3893746

rs_749287034

2 SubmittersRCV001372884 RCV004692667

NM_004370.6(COL12A1):c.2746A>G (p.Ile916Val)

SNV
Germline

Chr6:75165744

Conflicting classifications of pathogenicity

Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3893881

rs_200819563

2 SubmittersRCV001367330 RCV002548593

NM_004370.6(COL12A1):c.2410T>G (p.Leu804Val)

SNV
Germline

Chr6:75177690

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3893991

rs_769631929

4 SubmittersRCV001372983 RCV003145642 RCV005318787

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

CA10070638

rs_760265069

2 SubmittersRCV001369235 RCV003145635

NM_001848.3(COL6A1):c.1960G>C (p.Glu654Gln)

SNV
Germline

Chr21:46001964

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA10070702

rs_375318905

2 SubmittersRCV001363861 RCV005361567

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

CA10072400

rs_758788067

3 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

CA10072476

rs_768280699

4 SubmittersRCV001359136 RCV001779158

NM_004370.6(COL12A1):c.6872-2A>G

SNV
Germline

Chr6:75123406

Likely pathogenic

Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2

Criteria Provided
Single Submitter

CA364728240

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

CA410523541

rs_886042943

1 SubmittersRCV001378897

NM_001849.4(COL6A2):c.1053+2T>G

SNV
Germline

Chr21:46117455

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410527408

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

CA410538332

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

CA410538510

rs_267606750

1 SubmittersRCV001378718

NM_004369.4(COL6A3):c.6283-1G>A

SNV
Germline

Chr2:237359389

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA351216339

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

CA351213009

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

CA410521473

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

CA410521779

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

CA410526054

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

CA410527027

rs_878854362

1 SubmittersRCV001386985

NM_001849.4(COL6A2):c.955-1G>C

SNV
Germline

Chr21:46116769

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410527136

rs_886044265

1 SubmittersRCV001384346

NM_001849.4(COL6A2):c.1053+2T>A

SNV
Germline

Chr21:46117455

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410527406

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

CA410539885

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

CA3893480

rs_544779989

3 SubmittersRCV001418367 RCV001577606

NM_004370.6(COL12A1):c.9186C>T (p.Ser3062=)

SNV
Germline

Chr6:75086553

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3891982

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

CA2187766

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

CA2188811

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

CA2189332

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

CA3892761

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

CA3892847

rs_562076616

3 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

CA3894423

rs_370007721

3 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

CA2188629

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

CA410521602

rs_2123615453

1 SubmittersRCV002464464

NM_004370.6(COL12A1):c.9104G>A (p.Arg3035Gln)

SNV
Germline

Chr6:75087654

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3892021

rs_749005420

2 SubmittersRCV001570336 RCV001866023

NM_004370.6(COL12A1):c.5794+2T>A

SNV
Germline

Chr6:75133291

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364733849

rs_1266090046

2 SubmittersRCV001593512 RCV005225442

NM_001848.3(COL6A1):c.2710G>A (p.Val904Ile)

SNV
Germline

Chr21:46003636

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071008

rs_375831680

4 SubmittersRCV001592277 RCV004980608 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

CA3893035

rs_373739940

4 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

CA410520570

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

CA410538548

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3892556

rs_199633490

3 SubmittersRCV001730144 RCV002538698 RCV004611857

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

CA410538953

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

CA67823256

rs_949598599

3 SubmittersRCV001733611 RCV002032735 RCV003136129

NM_004369.4(COL6A3):c.8875G>T (p.Ala2959Ser)

SNV
Germline

Chr2:237336225

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187424

rs_774645319

2 SubmittersRCV001762783 RCV005094927

NM_004369.4(COL6A3):c.8798C>T (p.Pro2933Leu)

SNV
Germline

Chr2:237336302

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187445

rs_373550111

2 SubmittersRCV001756511 RCV005057562

NM_004369.4(COL6A3):c.5395G>A (p.Val1799Met)

SNV
Germline

Chr2:237366792

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2188676

rs_768420468

4 SubmittersRCV001763415 RCV002540341 RCV004611865

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

CA2189439

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

CA2189593

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

CA10071077

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

CA10070901

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
COL6A2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10072448

rs_746159648

4 SubmittersRCV001769234 RCV002540492 RCV004734263 RCV004980669

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

CA3893584

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

CA3894124

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

CA364762362

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

CA3893850

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

CA364732800

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

CA3893856

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

CA364761123

rs_1180402350

3 SubmittersRCV001753347 RCV001885097

NM_004370.6(COL12A1):c.4279C>T (p.Arg1427Cys)

SNV
Germline

Chr6:75148366

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3893495

rs_779038394

2 SubmittersRCV001776360 RCV005225492

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

CA3893442

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

CA410523515

rs_398123631

2 SubmittersRCV001780557 RCV002541114

NM_001848.3(COL6A1):c.1612-1G>A

SNV
Germline

Chr21:45998896

Pathogenic

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA410530493

rs_112667801

2 SubmittersRCV001780560 RCV005253886

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

CA410524924

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

CA351216776

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

CA2188250

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

CA2189177

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

CA3894217

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

CA410522380

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

CA3893620

rs_774035582

3 SubmittersRCV001823699 RCV001869823 RCV003146247

NM_004370.6(COL12A1):c.3161G>A (p.Arg1054Gln)

SNV
Germline

Chr6:75156346

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3893790

rs_577784031

3 SubmittersRCV002034780 RCV002034779 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

CA3894158

rs_775466928

3 SubmittersRCV001930228 RCV003487812 RCV004040371

NM_004370.6(COL12A1):c.8753G>T (p.Gly2918Val)

SNV
Germline

Chr6:75090298

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3892110

rs_769818518

2 SubmittersRCV002012285 RCV002265052

NM_004370.6(COL12A1):c.634T>C (p.Tyr212His)

SNV
Germline

Chr6:75189576

Conflicting classifications of pathogenicity

Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA364728541

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10073108

rs_753423696

3 SubmittersRCV002286861 RCV002002095 RCV005535167

NM_004369.4(COL6A3):c.4286-2A>G

SNV
Germline

Chr2:237369179

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA2188925

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

CA3892721

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

CA351216218

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

CA410523100

rs_1355259368

2 SubmittersRCV001974932 RCV003146390

NM_004369.4(COL6A3):c.4424T>C (p.Val1475Ala)

SNV
Germline

Chr2:237369039

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA351193359

rs_1216842831

2 SubmittersRCV002243503 RCV001984406

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

CA364740294

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
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3893461

rs_771110521

3 SubmittersRCV001864237 RCV002547968 RCV003322897

NM_004369.4(COL6A3):c.2400T>A (p.Asp800Glu)

SNV
Germline

Chr2:237378733

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189412

rs_374774989

2 SubmittersRCV001875335 RCV004611951

NM_004370.6(COL12A1):c.6878A>G (p.Lys2293Arg)

SNV
Germline

Chr6:75123398

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA140981572

rs_1053454286

2 SubmittersRCV001881578 RCV004975777

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

CA3892188

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

CA2188794

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

CA410520574

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

CA410524580

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
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

CA3892667

rs_745852751

3 SubmittersRCV001917633 RCV005370017

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

CA3892946

rs_768824483

3 SubmittersRCV001930643 RCV003146351

NM_001848.3(COL6A1):c.2411A>G (p.Asn804Ser)

SNV
Germline

Chr21:46002687

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10070856

rs_750677189

2 SubmittersRCV001961341 RCV004976029

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

CA10073150

rs_762516507

2 SubmittersRCV001953388 RCV003146395

NM_004370.6(COL12A1):c.4418-1G>A

SNV
Germline

Chr6:75146245

Likely pathogenic

Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2

Criteria Provided
Single Submitter

CA141001254

rs_984784417

1 SubmittersRCV002014265

NM_004369.4(COL6A3):c.8158G>A (p.Glu2720Lys)

SNV
Germline

Chr2:237340758

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2187613

rs_368129741

2 SubmittersRCV002041342 RCV005320892

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

CA2187427

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

CA410525291

rs_2123626138

1 SubmittersRCV001950810

NM_004370.6(COL12A1):c.3780G>C (p.Lys1260Asn)

SNV
Germline

Chr6:75152186

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3893622

rs_767422633

2 SubmittersRCV001979142 RCV005542602

NM_004370.6(COL12A1):c.5140C>G (p.Leu1714Val)

SNV
Germline

Chr6:75138538

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3893239

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

CA410530664

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

CA410525056

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

CA2187842

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

CA410524723

rs_2123625569

1 SubmittersRCV002033244

NM_001848.3(COL6A1):c.244C>T (p.Arg82Ter)

SNV
Germline

Chr21:45984285

Pathogenic

Bethlem myopathy 1A
COL6A1-related disorder

Criteria Provided
Single Submitter

CA410515755

rs_1422385556

2 SubmittersRCV001879674 RCV004734310

NM_001849.4(COL6A2):c.884G>A (p.Gly295Glu)

SNV
Germline

Chr21:46116037

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410525283

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

CA10070851

rs_762499313

2 SubmittersRCV001916755 RCV002557881

NM_004370.6(COL12A1):c.3919A>G (p.Ile1307Val)

SNV
Germline

Chr6:75151948

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3893591

rs_749722543

2 SubmittersRCV001947346 RCV004779160

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

CA3894538

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

CA2189070

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

CA410523350

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA141002999

rs_978290681

3 SubmittersRCV001915824 RCV003146337 RCV005542562

NM_004369.4(COL6A3):c.7648C>T (p.Gln2550Ter)

SNV
Germline

Chr2:237344370

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA351201560

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

CA3894252

rs_565496900

2 SubmittersRCV001874659 RCV003146284

NM_001848.3(COL6A1):c.2434+19G>A

SNV
Germline

Chr21:46002729

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10070879

rs_571644858

2 SubmittersRCV001926158 RCV004693967

NM_004370.6(COL12A1):c.5134G>A (p.Glu1712Lys)

SNV
Germline

Chr6:75138544

Conflicting classifications of pathogenicity

Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
Condition: not provided
COL12A1-related disorder

Criteria Provided
Conflicting Classifications

CA3893241

rs_778415707

3 SubmittersRCV001988629 RCV003146454 RCV003958459

NM_001849.4(COL6A2):c.2099G>A (p.Gly700Asp)

SNV
Germline

Chr21:46125914

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA410541548

rs_2078657536

3 SubmittersRCV001988635 RCV005409860

NM_004370.6(COL12A1):c.515T>C (p.Ile172Thr)

SNV
Germline

Chr6:75189695

Conflicting classifications of pathogenicity

Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
not specified

Criteria Provided
Conflicting Classifications

CA3894409

rs_780886772

2 SubmittersRCV001885454 RCV005432814

NM_004370.6(COL12A1):c.6394T>C (p.Phe2132Leu)

SNV
Germline

Chr6:75126417

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3892820

rs_769755656

2 SubmittersRCV001909902 RCV004611980

NM_004369.4(COL6A3):c.865G>T (p.Glu289Ter)

SNV
Germline

Chr2:237388029

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA2189761

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

CA2187596

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

CA351215200

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA141000625

rs_373216375

3 SubmittersRCV001922530 RCV003146320 RCV004611965

NM_001848.3(COL6A1):c.913G>C (p.Gly305Arg)

SNV
Germline

Chr21:45989761

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410522312

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

CA10069869

rs_145838277

2 SubmittersRCV001984905 RCV003289262

NM_004370.6(COL12A1):c.6073C>T (p.Arg2025Cys)

SNV
Germline

Chr6:75130228

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3892901

rs_534778154

2 SubmittersRCV002038328 RCV005232782

NM_004369.4(COL6A3):c.3733G>A (p.Gly1245Arg)

SNV
Germline

Chr2:237372284

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA2189088

rs_150548221

3 SubmittersRCV001998404 RCV002573476 RCV005626569

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

CA3893928

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

CA351185570

rs_1405374416

1 SubmittersRCV001994492

NM_004370.6(COL12A1):c.1457G>A (p.Arg486Gln)

SNV
Germline

Chr6:75183484

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3894195

rs_768545712

3 SubmittersRCV001932694 RCV004774520 RCV005238048

NM_004369.4(COL6A3):c.8660C>T (p.Thr2887Ile)

SNV
Germline

Chr2:237336440

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2187471

rs_765812583

3 SubmittersRCV001917961 RCV002555615 RCV004693910

NM_001849.4(COL6A2):c.2514G>A (p.Leu838=)

SNV
Germline

Chr21:46132006

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10072914

rs_377389081

2 SubmittersRCV001918053 RCV003146326

NM_004370.6(COL12A1):c.335-1G>C

SNV
Germline

Chr6:75191761

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3894453

rs_779800232

3 SubmittersRCV001945833 RCV005057794

NM_004370.6(COL12A1):c.4275G>T (p.Gly1425=)

SNV
Germline

Chr6:75148370

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3893496

rs_371112796

2 SubmittersRCV001933633 RCV004793615

NM_001849.4(COL6A2):c.2133C>A (p.Tyr711Ter)

SNV
Germline

Chr21:46125948

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410541679

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

CA10070160

rs_765826390

2 SubmittersRCV001989105 RCV003146460

NM_004370.6(COL12A1):c.5664+1G>A

SNV
Germline

Chr6:75133857

Likely pathogenic

Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2

Criteria Provided
Single Submitter

CA364734643

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

CA410522453

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

CA364741438

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

CA410542638

rs_2123664803

1 SubmittersRCV001894141

NM_001849.4(COL6A2):c.784G>T (p.Gly262Cys)

SNV
Germline

Chr21:46114056

Pathogenic/Likely pathogenic

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA410523539

rs_2123620765

2 SubmittersRCV001991396 RCV005235628

NM_001848.3(COL6A1):c.3006C>A (p.His1002Gln)

SNV
Germline

Chr21:46003932

Conflicting classifications of pathogenicity

Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA410541812

rs_1180948133

2 SubmittersRCV002554359 RCV001932867

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
not specified

Criteria Provided
Conflicting Classifications

CA10070957

rs_771987341

4 SubmittersRCV001948185 RCV002560582 RCV003136326 RCV004690184

NM_004369.4(COL6A3):c.6188A>G (p.Tyr2063Cys)

SNV
Germline

Chr2:237361143

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA351217439

rs_2106343479

1 SubmittersRCV002014210

NM_001849.4(COL6A2):c.2995G>T (p.Glu999Ter)

SNV
Germline

Chr21:46132487

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410550502

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

CA2189290

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

CA410547839

rs_1243558040

2 SubmittersRCV001890062 RCV003136241

NM_004370.6(COL12A1):c.3535G>A (p.Asp1179Asn)

SNV
Germline

Chr6:75154446

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3893697

rs_370641424

2 SubmittersRCV001909000 RCV005542555

NM_001849.4(COL6A2):c.954+1G>C

SNV
Germline

Chr21:46116678

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410527051

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

CA351203144

rs_2106361236

1 SubmittersRCV001951341

NM_001849.4(COL6A2):c.802G>A (p.Gly268Ser)

SNV
Germline

Chr21:46115872

Pathogenic/Likely pathogenic

Bethlem myopathy 1A
COL6A2-related core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA410524577

rs_2123625485

2 SubmittersRCV001951458 RCV004587275

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3893282

rs_368481619

4 SubmittersRCV002029697 RCV002290839 RCV005542685

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

CA10071267

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

CA10070829

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

CA410547859

rs_2123454401

1 SubmittersRCV001963118

NM_001849.4(COL6A2):c.1332+2T>C

SNV
Germline

Chr21:46119852

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410530519

rs_2078532687

1 SubmittersRCV001918252

NM_001848.3(COL6A1):c.2014G>A (p.Glu672Lys)

SNV
Germline

Chr21:46002018

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10070718

rs_765421411

2 SubmittersRCV001935913 RCV005242127

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

CA2187576

rs_756294311

3 SubmittersRCV001934892 RCV002252713 RCV003375384

NM_004370.6(COL12A1):c.5977C>T (p.Arg1993Trp)

SNV
Germline

Chr6:75130942

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3892938

rs_199501842

2 SubmittersRCV001913467 RCV004591633

NM_004370.6(COL12A1):c.1429G>A (p.Val477Ile)

SNV
Germline

Chr6:75183512

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3894203

rs_759237307

2 SubmittersRCV001987258 RCV004697168

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

CA410516001

rs_1365404018

2 SubmittersRCV001895196 RCV003264173

NM_004370.6(COL12A1):c.7801G>T (p.Asp2601Tyr)

SNV
Germline

Chr6:75113641

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3892461

rs_757556640

2 SubmittersRCV003223740 RCV002001907

NM_004369.4(COL6A3):c.8825C>T (p.Ala2942Val)

SNV
Germline

Chr2:237336275

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187437

rs_757146083

2 SubmittersRCV003146312 RCV001896336

NM_004369.4(COL6A3):c.3508G>A (p.Ala1170Thr)

SNV
Germline

Chr2:237374583

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2189152

rs_754847515

4 SubmittersRCV002039910 RCV004779152 RCV004785342 RCV005542492

NM_004370.6(COL12A1):c.8714G>A (p.Arg2905Gln)

SNV
Germline

Chr6:75091361

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3892135

rs_759065663

3 SubmittersRCV001886170 RCV003328683 RCV004980854

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

CA10072621

rs_746393019

2 SubmittersRCV001909362 RCV002469428

NM_004370.6(COL12A1):c.5483C>T (p.Pro1828Leu)

SNV
Germline

Chr6:75134767

Conflicting classifications of pathogenicity

Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3893119

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

CA351189410

rs_2106350905

1 SubmittersRCV002027068

NM_004370.6(COL12A1):c.9064C>T (p.Pro3022Ser)

SNV
Germline

Chr6:75087694

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3892030

rs_200901687

4 SubmittersRCV001980994 RCV005406255 RCV003146461

NM_004369.4(COL6A3):c.2426C>T (p.Pro809Leu)

SNV
Germline

Chr2:237378707

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189411

rs_138281601

2 SubmittersRCV002024822 RCV004612112

NM_001849.4(COL6A2):c.2548C>T (p.His850Tyr)

SNV
Germline

Chr21:46132040

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases
Myosclerosis
Bethlem myopathy 1B
Ullrich congenital muscular dystrophy 1B

Criteria Provided
Conflicting Classifications

CA10072923

rs_374166613

3 SubmittersRCV002091297 RCV002993481 RCV005025697

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

CA10073034

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

CA3892028

rs_572512247

2 SubmittersRCV002172150 RCV003146506

NM_004369.4(COL6A3):c.7051A>C (p.Ile2351Leu)

SNV
Germline

Chr2:237346544

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Dystonia 27

Criteria Provided
Conflicting Classifications

CA2187948

rs_557448772

2 SubmittersRCV002075114 RCV005361953

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

CA431673595

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
Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070300

rs_776914710

3 SubmittersRCV002222815 RCV004047200 RCV003517355

NM_004370.6(COL12A1):c.5765G>A (p.Gly1922Glu)

SNV
Germline

Chr6:75133322

Likely pathogenic

Bethlem myopathy 2

Criteria Provided
Single Submitter

CA364733926

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

CA410524955

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

CA141030564

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

CA410527407

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

CA351216344

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

CA410527126

rs_1555873084

1 SubmittersRCV002254414

NM_004370.6(COL12A1):c.1037C>T (p.Ser346Phe)

SNV
Germline

Chr6:75184105

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3894276

rs_750973947

3 SubmittersRCV002281432 RCV004047560 RCV005227567

NM_004370.6(COL12A1):c.7697+1G>C

SNV
Germline

Chr6:75115783

Likely pathogenic

Bethlem myopathy 2

Criteria Provided
Single Submitter

CA364744749

rs_1178118885

1 SubmittersRCV002289033

NM_004369.4(COL6A3):c.6967G>A (p.Gly2323Ser)

SNV
Germline

Chr2:237347869

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA351207497

rs_1315877654

1 SubmittersRCV002289292

NM_004370.6(COL12A1):c.4181C>G (p.Ser1394Cys)

SNV
Germline

Chr6:75148464

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3893519

rs_780317617

2 SubmittersRCV002300800 RCV003097870

NM_004370.6(COL12A1):c.7525C>G (p.Pro2509Ala)

SNV
Germline

Chr6:75116052

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3892535

rs_374843798

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

CA2187489

rs_139883752

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

CA10070114

rs_761353188

2 SubmittersRCV002466961

NM_004370.6(COL12A1):c.8938C>T (p.Arg2980Ter)

SNV
Germline

Chr6:75090113

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA364734355

rs_1400969919

2 SubmittersRCV003775514 RCV002471844

NM_004370.6(COL12A1):c.1619A>G (p.Asn540Ser)

SNV
Germline

Chr6:75183322

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3894168

rs_543760014

4 SubmittersRCV003775554 RCV002508513 RCV004064273

NM_004370.6(COL12A1):c.5269C>T (p.Arg1757Ter)

SNV
Germline

Chr6:75137562

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364737903

rs_779921465

2 SubmittersRCV003060061 RCV004719286

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3893747

rs_367774920

3 SubmittersRCV003037206 RCV003225248 RCV005542906

NM_001849.4(COL6A2):c.875G>A (p.Gly292Asp)

SNV
Germline

Chr21:46116028

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410525196

rs_794727855

1 SubmittersRCV003064640

NM_001849.4(COL6A2):c.927+5G>A

SNV
Germline

Chr21:46116408

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA2580099018

rs_2516996260

1 SubmittersRCV003050571

NM_001848.3(COL6A1):c.2554G>A (p.Ala852Thr)

SNV
Germline

Chr21:46003480

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10070956

rs_748327110

3 SubmittersRCV003074052 RCV003143454 RCV003274182

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

CA2187372

rs_774436034

2 SubmittersRCV003068009 RCV004070309

NM_001849.4(COL6A2):c.896C>A (p.Pro299His)

SNV
Germline

Chr21:46116049

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10071518

rs_572345625

2 SubmittersRCV003070849 RCV004614319

NM_001848.3(COL6A1):c.2723A>G (p.Asp908Gly)

SNV
Germline

Chr21:46003649

Conflicting classifications of pathogenicity

Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10071014

rs_770495711

2 SubmittersRCV005323304 RCV003070918

NM_004369.4(COL6A3):c.6283-15C>A

SNV
Germline

Chr2:237359403

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA2580066084

rs_757187481

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

CA351186157

rs_1417285945

2 SubmittersRCV003091048 RCV004546762

NM_001849.4(COL6A2):c.1657G>A (p.Glu553Lys)

SNV
Germline

Chr21:46122923

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10072074

rs_766710257

2 SubmittersRCV003091538 RCV004614351

NM_001848.3(COL6A1):c.1438G>A (p.Asp480Asn)

SNV
Germline

Chr21:45997460

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10070302

rs_372619016

2 SubmittersRCV003090229 RCV005542933

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

CA2188883

rs_146629310

2 SubmittersRCV002582195 RCV004068763

NM_004370.6(COL12A1):c.4679G>A (p.Arg1560Gln)

SNV
Germline

Chr6:75145337

Conflicting classifications of pathogenicity

Inborn genetic diseases
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Conflicting Classifications

CA3893384

rs_760786950

2 SubmittersRCV003081974 RCV003073479

NM_004369.4(COL6A3):c.5992C>T (p.Arg1998Ter)

SNV
Germline

Chr2:237363324

Pathogenic/Likely pathogenic

Bethlem myopathy 1A
Dystonia 27
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2188507

rs_750471097

3 SubmittersRCV002615961 RCV004784103 RCV003443130

NM_004370.6(COL12A1):c.3902G>A (p.Arg1301Gln)

SNV
Germline

Chr6:75151965

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3893592

rs_549336635

2 SubmittersRCV002619754 RCV003143508

NM_004369.4(COL6A3):c.7162+1G>A

SNV
Germline

Chr2:237345057

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA2187899

rs_755754433

1 SubmittersRCV002664288

NM_004369.4(COL6A3):c.6221G>A (p.Gly2074Asp)

SNV
Germline

Chr2:237360149

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA351216717

rs_2469862075

1 SubmittersRCV002651627

NM_004370.6(COL12A1):c.6125C>T (p.Ser2042Leu)

SNV
Germline

Chr6:75130176

Conflicting classifications of pathogenicity

Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3892892

rs_767845062

2 SubmittersRCV002651233 RCV003377911

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

CA410518142

rs_1378555453

3 SubmittersRCV003112624 RCV003140247 RCV004245910

NM_001849.4(COL6A2):c.2638C>A (p.Leu880Met)

SNV
Germline

Chr21:46132130

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA410548702

rs_1384516142

2 SubmittersRCV003118893 RCV003143583

NM_004369.4(COL6A3):c.7040G>A (p.Gly2347Glu)

SNV
Germline

Chr2:237346555

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA351206596

rs_1413177521

2 SubmittersRCV003117258 RCV004812480

NM_004370.6(COL12A1):c.5737G>A (p.Val1913Ile)

SNV
Germline

Chr6:75133350

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3893024

rs_542263318

2 SubmittersRCV002589067 RCV003146585

NM_004369.4(COL6A3):c.877A>G (p.Met293Val)

SNV
Germline

Chr2:237388017

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189759

rs_752046618

2 SubmittersRCV002593316 RCV004612191

NM_004370.6(COL12A1):c.433G>A (p.Val145Met)

SNV
Germline

Chr6:75189777

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3894424

rs_750624029

2 SubmittersRCV002601532 RCV005433243

NM_004369.4(COL6A3):c.6605G>A (p.Arg2202Gln)

SNV
Germline

Chr2:237354921

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2188173

rs_768050320

2 SubmittersRCV002622579 RCV005535373

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

CA10073083

rs_201854898

2 SubmittersRCV002627325 RCV003146596

NM_004369.4(COL6A3):c.8075A>G (p.Tyr2692Cys)

SNV
Germline

Chr2:237340841

Conflicting classifications of pathogenicity

Inborn genetic diseases
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2187634

rs_371571488

3 SubmittersRCV002658175 RCV002658174 RCV005421410

NM_004369.4(COL6A3):c.6967-2A>G

SNV
Germline

Chr2:237347871

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA351207529

rs_1325798552

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

CA410536535

rs_1428157627

2 SubmittersRCV002761652 RCV004067959

NM_004369.4(COL6A3):c.5924G>A (p.Arg1975His)

SNV
Germline

Chr2:237363392

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2188516

rs_375287084

2 SubmittersRCV002794973 RCV003146623

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

SNV
Germline

Chr21:45990828

Pathogenic/Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA410523518

rs_797044456

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

CA10071048

rs_774428333

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

CA3892366

rs_549405420

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

CA364740504

rs_2533337643

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

CA67816437

rs_762767186

2 SubmittersRCV002790463 RCV003434510

NM_001849.4(COL6A2):c.1671+1G>T

SNV
Germline

Chr21:46122938

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410534930

rs_1167687731

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

CA410527474

rs_2516999821

2 SubmittersRCV002801168 RCV004536412

NM_001849.4(COL6A2):c.1327G>T (p.Glu443Ter)

SNV
Germline

Chr21:46119845

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410530484

rs_1442330797

1 SubmittersRCV002815495

NM_001849.4(COL6A2):c.997A>T (p.Lys333Ter)

SNV
Germline

Chr21:46116812

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410527280

rs_2516997223

1 SubmittersRCV002816214

NM_001849.4(COL6A2):c.2418C>A (p.Cys806Ter)

SNV
Germline

Chr21:46126233

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410543228

rs_2517018842

1 SubmittersRCV002806534

NM_004369.4(COL6A3):c.4744G>T (p.Glu1582Ter)

SNV
Germline

Chr2:237368719

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA351192213

rs_2469888379

1 SubmittersRCV002834194

NM_001849.4(COL6A2):c.1522-1G>C

SNV
Germline

Chr21:46122107

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410533533

rs_398123646

1 SubmittersRCV002843219

NM_001849.4(COL6A2):c.801+2T>G

SNV
Germline

Chr21:46114075

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410523612

rs_2516992989

1 SubmittersRCV002846897

NM_001849.4(COL6A2):c.1180-1G>A

SNV
Germline

Chr21:46119029

Pathogenic/Likely pathogenic

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10071762

rs_751409618

2 SubmittersRCV002871020 RCV005412443

NM_001848.3(COL6A1):c.1524+1G>A

SNV
Germline

Chr21:45997763

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410528947

rs_2526337540

1 SubmittersRCV002847694

NM_004369.4(COL6A3):c.9230-1G>A

SNV
Germline

Chr2:237333549

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA67828702

rs_971398848

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

CA10071780

rs_371383704

2 SubmittersRCV002872835 RCV004065975

NM_004369.4(COL6A3):c.5879C>T (p.Ala1960Val)

SNV
Germline

Chr2:237364388

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2188545

rs_371215375

3 SubmittersRCV002903122 RCV003236941 RCV002903123

NM_001849.4(COL6A2):c.900+1G>T

SNV
Germline

Chr21:46116054

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410525411

rs_886044261

1 SubmittersRCV002867776

NM_001849.4(COL6A2):c.2249G>A (p.Arg750His)

SNV
Germline

Chr21:46126064

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10072484

rs_779058606

2 SubmittersRCV002882247 RCV004614249

NM_001848.3(COL6A1):c.1801A>G (p.Met601Val)

SNV
Germline

Chr21:46000355

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10070576

rs_774610686

2 SubmittersRCV002890213 RCV003167866

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

CA2188025

rs_370862741

2 SubmittersRCV002917531 RCV003146662

NM_004370.6(COL12A1):c.8608C>G (p.Pro2870Ala)

SNV
Germline

Chr6:75095149

Conflicting classifications of pathogenicity

Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3892189

rs_759563506

2 SubmittersRCV002917561 RCV004973692

NM_004370.6(COL12A1):c.6094A>T (p.Arg2032Ter)

SNV
Germline

Chr6:75130207

Pathogenic

Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2

Criteria Provided
Single Submitter

CA364731267

rs_2533265739

1 SubmittersRCV002931918

NM_004370.6(COL12A1):c.1694G>A (p.Arg565Lys)

SNV
Germline

Chr6:75183247

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA364768921

rs_1371486094

3 SubmittersRCV002904819 RCV002927212 RCV003146675

NM_004370.6(COL12A1):c.3242G>C (p.Gly1081Ala)

SNV
Germline

Chr6:75156265

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA141011978

rs_368153032

2 SubmittersRCV002933760 RCV003491173

NM_004370.6(COL12A1):c.9143A>C (p.Gln3048Pro)

SNV
Germline

Chr6:75087615

Conflicting classifications of pathogenicity

Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA364732718

rs_779895718

2 SubmittersRCV002910150 RCV004614268

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

CA410549333

rs_746268077

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

CA10070962

rs_759792085

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

CA2188543

rs_753805537

3 SubmittersRCV002944054 RCV003146702 RCV004068340

NM_004370.6(COL12A1):c.4334A>G (p.Lys1445Arg)

SNV
Germline

Chr6:75147758

Conflicting classifications of pathogenicity

Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3893476

rs_182730243

2 SubmittersRCV002975422 RCV004068267

NM_001849.4(COL6A2):c.1507C>T (p.Gln503Ter)

SNV
Germline

Chr21:46121604

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA321967473

rs_148208114

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

CA3893762

rs_757917876

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

CA10070900

rs_770703803

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

CA10071057

rs_763228065

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

CA2189181

rs_374447921

3 SubmittersRCV002999656 RCV003009036 RCV003146717

NM_001849.4(COL6A2):c.856-1G>T

SNV
Germline

Chr21:46116008

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410525050

rs_2516995291

1 SubmittersRCV003025561

NM_004370.6(COL12A1):c.394+1G>A

SNV
Germline

Chr6:75191700

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA364729839

rs_2533613206

2 SubmittersRCV003014090 RCV003170869

NM_004370.6(COL12A1):c.4245T>A (p.Tyr1415Ter)

SNV
Germline

Chr6:75148400

Pathogenic

Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2

Criteria Provided
Single Submitter

CA364745432

rs_34830422

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

CA364741444

rs_1768702301

1 SubmittersRCV003034644

NM_001848.3(COL6A1):c.751G>T (p.Glu251Ter)

SNV
Germline

Chr21:45987511

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410519714

rs_145849970

1 SubmittersRCV003035400

NM_004369.4(COL6A3):c.1234C>T (p.Gln412Ter)

SNV
Germline

Chr2:237387660

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA67835572

rs_910170157

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

CA364745091

rs_2533377088

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

CA2187558

rs_781514010

2 SubmittersRCV002656816 RCV003631277

NM_004369.4(COL6A3):c.4282C>T (p.Pro1428Ser)

SNV
Germline

Chr2:237371735

Conflicting classifications of pathogenicity

Inborn genetic diseases
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2188956

rs_746007396

4 SubmittersRCV002732317 RCV003517442 RCV003143541

NM_004369.4(COL6A3):c.2035G>A (p.Gly679Ser)

SNV
Germline

Chr2:237379098

Conflicting classifications of pathogenicity

Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA67826974

rs_201031137

2 SubmittersRCV002728640 RCV005099596

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

CA410518525

rs_1239824257

2 SubmittersRCV002837263 RCV003631282

NM_004369.4(COL6A3):c.251A>G (p.Asn84Ser)

SNV
Germline

Chr2:237395045

Conflicting classifications of pathogenicity

Inborn genetic diseases
Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2189909

rs_752748927

3 SubmittersRCV002854169 RCV003631281 RCV003143549

NM_001849.4(COL6A2):c.2284A>G (p.Met762Val)

SNV
Germline

Chr21:46126099

Conflicting classifications of pathogenicity

Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10072503

rs_376359740

2 SubmittersRCV002699085 RCV005099109

NM_004369.4(COL6A3):c.7843G>T (p.Asp2615Tyr)

SNV
Germline

Chr2:237341073

Conflicting classifications of pathogenicity

Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2187683

rs_145884404

2 SubmittersRCV002765238 RCV003517445

NM_004370.6(COL12A1):c.4148-4G>C

SNV
Germline

Chr6:75148501

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2580075826

rs_146899194

2 SubmittersRCV003145118 RCV005215984

NM_004370.6(COL12A1):c.3130C>T (p.Pro1044Ser)

SNV
Germline

Chr6:75156377

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA364753953

rs_200490883

2 SubmittersRCV003145133 RCV005209598

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

CA3893987

rs_746059124

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

CA3892971

rs_199747984

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

CA410540070

rs_1428047738

2 SubmittersRCV003145731 RCV003778852

NM_001848.3(COL6A1):c.520G>T (p.Asp174Tyr)

SNV
Germline

Chr21:45986617

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA410518071

rs_1276672073

2 SubmittersRCV003145739 RCV005099384

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

CA10071091

rs_146202983

2 SubmittersRCV003145745 RCV003631291

NM_001848.3(COL6A1):c.2077A>C (p.Ser693Arg)

SNV
Germline

Chr21:46002228

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10070768

rs_768435283

2 SubmittersRCV003517453 RCV003145747

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

CA10071043

rs_147882179

2 SubmittersRCV003143300 RCV003778854

NM_001848.3(COL6A1):c.2894C>T (p.Ala965Val)

SNV
Germline

Chr21:46003820

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA410541358

rs_1339806588

2 SubmittersRCV003143301 RCV005099385

NM_001849.4(COL6A2):c.1642C>A (p.Pro548Thr)

SNV
Germline

Chr21:46122908

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10072069

rs_768102862

2 SubmittersRCV003517454 RCV003145763

NM_001849.4(COL6A2):c.320T>C (p.Val107Ala)

SNV
Germline

Chr21:46112183

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10071261

rs_758073557

2 SubmittersRCV003631293 RCV003145772

NM_004369.4(COL6A3):c.1834C>G (p.Pro612Ala)

SNV
Germline

Chr2:237380978

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189544

rs_150162992

3 SubmittersRCV003145843 RCV004978785 RCV005099390

NM_004369.4(COL6A3):c.3429G>T (p.Arg1143Ser)

SNV
Germline

Chr2:237374662

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189170

rs_146171151

2 SubmittersRCV003145844 RCV005099391

NM_004369.4(COL6A3):c.70C>T (p.His24Tyr)

SNV
Germline

Chr2:237396748

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA2189962

rs_769211133

2 SubmittersRCV003145847 RCV005099392

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

CA2189227

rs_754410028

2 SubmittersRCV003143310 RCV003631295

NM_001849.4(COL6A2):c.1817-2A>C

SNV
Germline

Chr21:46125463

Pathogenic/Likely pathogenic

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA321972269

rs_111697581

3 SubmittersRCV003153080 RCV004593223

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

CA2189534

rs_532388240

2 SubmittersRCV003181328 RCV003779676

NM_004370.6(COL12A1):c.9166G>A (p.Gly3056Arg)

SNV
Germline

Chr6:75087592

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3892010

rs_751344618

3 SubmittersRCV003234529 RCV005544992 RCV005227948

NM_004370.6(COL12A1):c.8329G>C (p.Gly2777Arg)

SNV
Germline

Chr6:75102683

Pathogenic

Bethlem myopathy 2

No Assertion Criteria Provided

CA364739785

rs_2533104395

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

CA364732284

rs_1333110706

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

CA351192680

rs_1169100731

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

CA3894059

rs_370891083

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

CA410523697

rs_2526326141

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

CA351217575

rs_886041329

2 SubmittersRCV003326232 RCV003631310

NM_004369.4(COL6A3):c.6139G>A (p.Gly2047Ser)

SNV
Germline

Chr2:237361756

Conflicting classifications of pathogenicity

Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA351217709

rs_2469867117

2 SubmittersRCV003381223 RCV004786927

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

CA2189819

rs_765527121

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

CA3893518

rs_115511838

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

CA351226845

rs_778487068

2 SubmittersRCV003481690 RCV003631325

NM_001848.3(COL6A1):c.1442A>T (p.Glu481Val)

SNV
Germline

Chr21:45997464

Conflicting classifications of pathogenicity

Condition: not provided
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

CA10070304

rs_556176545

2 SubmittersRCV003490604 RCV005100316

NM_001848.3(COL6A1):c.235C>T (p.Arg79Cys)

SNV
Germline

Chr21:45984276

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
not specified

Criteria Provided
Conflicting Classifications

CA410515712

rs_748810004

2 SubmittersRCV003518192 RCV004801357

NM_001848.3(COL6A1):c.1576-2A>G

SNV
Germline

Chr21:45998396

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410530188

rs_2526339061

1 SubmittersRCV003518068

NM_001849.4(COL6A2):c.3053T>C (p.Ile1018Thr)

SNV
Germline

Chr21:46132545

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA410550918

rs_1427427775

2 SubmittersRCV003518383 RCV005323479

NM_001848.3(COL6A1):c.1138G>A (p.Gly380Arg)

SNV
Germline

Chr21:45992028

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410524709

rs_1401779653

1 SubmittersRCV003518370

NM_004369.4(COL6A3):c.5524G>A (p.Gly1842Arg)

SNV
Germline

Chr2:237366012

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA351186336

rs_1395597644

1 SubmittersRCV003518744

NM_001849.4(COL6A2):c.1770+2T>C

SNV
Germline

Chr21:46124922

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410537685

rs_2517014824

1 SubmittersRCV003516747

NM_004369.4(COL6A3):c.6409-1G>C

SNV
Germline

Chr2:237358584

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA351215495

rs_2469856775

1 SubmittersRCV003518828

NM_001849.4(COL6A2):c.430C>T (p.Gln144Ter)

SNV
Germline

Chr21:46112293

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410521550

rs_2516989781

1 SubmittersRCV003516843

NM_001849.4(COL6A2):c.1990C>T (p.Gln664Ter)

SNV
Germline

Chr21:46125805

Pathogenic

Bethlem myopathy 1A
Bethlem myopathy 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA410539608

rs_1382122104

2 SubmittersRCV003517697 RCV004771544

NM_004369.4(COL6A3):c.2227G>A (p.Val743Met)

SNV
Germline

Chr2:237378906

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
not specified

Criteria Provided
Conflicting Classifications

CA67826811

rs_960542923

2 SubmittersRCV003517743 RCV004701761

NM_004369.4(COL6A3):c.9000A>G (p.Ile3000Met)

SNV
Germline

Chr2:237334855

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2187385

rs_376142052

2 SubmittersRCV003517721 RCV004980890

NM_004369.4(COL6A3):c.2144C>G (p.Ser715Trp)

SNV
Germline

Chr2:237378989

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2189474

rs_780115806

2 SubmittersRCV003631596 RCV004786989

NM_004369.4(COL6A3):c.4286-2A>C

SNV
Germline

Chr2:237369179

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA2188926

rs_761453030

1 SubmittersRCV003631786

NM_001849.4(COL6A2):c.1969+1G>T

SNV
Germline

Chr21:46125618

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410539304

rs_2078651031

1 SubmittersRCV003631988

NM_001848.3(COL6A1):c.268G>A (p.Ala90Thr)

SNV
Germline

Chr21:45984309

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10069512

rs_201322581

3 SubmittersRCV003631879 RCV005256925 RCV004371746

NM_001849.4(COL6A2):c.856G>T (p.Gly286Ter)

SNV
Germline

Chr21:46116009

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410525061

rs_2123626018

1 SubmittersRCV003632160

NM_001848.3(COL6A1):c.957+1G>C

SNV
Germline

Chr21:45990285

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410522545

rs_886044535

1 SubmittersRCV003632204

NM_004369.4(COL6A3):c.217G>T (p.Glu73Ter)

SNV
Germline

Chr2:237395079

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA351228091

rs_775433277

1 SubmittersRCV003632206

NM_004369.4(COL6A3):c.22C>G (p.Pro8Ala)

SNV
Germline

Chr2:237396796

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189970

rs_144189491

2 SubmittersRCV003632507 RCV005323543

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

CA2187640

rs_765987305

2 SubmittersRCV003632648 RCV004374163

NM_001848.3(COL6A1):c.833G>T (p.Gly278Val)

SNV
Germline

Chr21:45989112

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410521526

rs_886043106

1 SubmittersRCV003632779

NM_001848.3(COL6A1):c.859-2A>G

SNV
Germline

Chr21:45989606

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410521707

rs_2526321732

1 SubmittersRCV003632780

NM_004369.4(COL6A3):c.896A>G (p.Tyr299Cys)

SNV
Germline

Chr2:237387998

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2189756

rs_202132584

2 SubmittersRCV003632816 RCV004981005

NM_001848.3(COL6A1):c.245G>A (p.Arg82Gln)

SNV
Germline

Chr21:45984286

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10069509

rs_773845144

2 SubmittersRCV003632861 RCV004981008

NM_001848.3(COL6A1):c.1868C>G (p.Ser623Ter)

SNV
Germline

Chr21:46001298

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410533305

rs_2526347472

1 SubmittersRCV003632881

NM_004370.6(COL12A1):c.6771C>G (p.His2257Gln)

SNV
Germline

Chr6:75124048

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3892726

rs_371417841

2 SubmittersRCV003781279 RCV005323578

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

CA3892456

rs_201158030

2 SubmittersRCV003788471 RCV004366519

NM_004370.6(COL12A1):c.1736C>T (p.Ala579Val)

SNV
Germline

Chr6:75183205

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3894150

rs_747479664

3 SubmittersRCV003789395 RCV004790609 RCV005356532

NM_004370.6(COL12A1):c.4537A>G (p.Thr1513Ala)

SNV
Germline

Chr6:75146125

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA364743507

rs_1367514850

2 SubmittersRCV003790544 RCV004790615

NM_004370.6(COL12A1):c.5858G>A (p.Arg1953His)

SNV
Germline

Chr6:75132019

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3892982

rs_367908043

2 SubmittersRCV003786697 RCV004981023

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

CA364747348

rs_2533199113

1 SubmittersRCV003806856

NM_004370.6(COL12A1):c.5795-2A>C

SNV
Germline

Chr6:75132084

Likely pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

CA364733245

rs_2533277727

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

CA364741448

rs_2533143581

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

CA364739406

rs_1441030917

1 SubmittersRCV003804224

NM_004370.6(COL12A1):c.5960G>A (p.Arg1987His)

SNV
Germline

Chr6:75130959

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3892943

rs_201827443

2 SubmittersRCV003803407 RCV004780656

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

CA364728788

rs_2533231035

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

CA364730942

rs_2533264880

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

CA364734049

rs_2533666320

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

CA364749920

rs_2533401869

1 SubmittersRCV003801781

NM_001849.4(COL6A2):c.2161C>T (p.Gln721Ter)

SNV
Germline

Chr21:46125976

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA410541811

rs_1437640012

1 SubmittersRCV003820900

NM_004369.4(COL6A3):c.705C>A (p.Ile235=)

SNV
Germline

Chr2:237394591

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA67841589

rs_993297723

2 SubmittersRCV003830916 RCV005422446

NM_001848.3(COL6A1):c.2108C>T (p.Thr703Met)

SNV
Germline

Chr21:46002259

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10070771

rs_200083690

2 SubmittersRCV003843988 RCV005323601

NM_004369.4(COL6A3):c.3071-1G>A

SNV
Germline

Chr2:237375021

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA351206126

rs_1301584371

1 SubmittersRCV003858585

NM_004369.4(COL6A3):c.5581A>T (p.Lys1861Ter)

SNV
Germline

Chr2:237365955

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

CA351186209

rs_2469880434

1 SubmittersRCV003870410

NM_004369.4(COL6A3):c.4789C>T (p.Arg1597Ter)

SNV
Germline

Chr2:237368674

Pathogenic/Likely pathogenic

COL6A3-related disorder
Bethlem myopathy 1C

No Assertion Criteria Provided

CA2188813

rs_758626447

2 SubmittersRCV004554350 RCV004595715

NM_001849.4(COL6A2):c.2665C>T (p.Gln889Ter)

SNV
Germline

Chr21:46132157

Pathogenic

BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE

No Assertion Criteria Provided

rs_1241180076

1 SubmittersRCV004588596

NM_001849.4(COL6A2):c.954+1G>A

SNV
Germline

Chr21:46116678

Pathogenic/Likely pathogenic

Bethlem myopathy 1B
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004596013 RCV004798988

NM_004370.6(COL12A1):c.8415+1G>A

SNV
Germline

Chr6:75102596

Likely pathogenic

Bethlem myopathy 2

No Assertion Criteria Provided

1 SubmittersRCV004767595

NM_001849.4(COL6A2):c.900+2T>G

SNV
Germline

Chr21:46116055

Pathogenic/Likely pathogenic

Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004771665 RCV005104969

NM_004370.6(COL12A1):c.8645G>C (p.Arg2882Thr)

SNV
Germline

Chr6:75095112

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004784348 RCV005218312

NM_004370.6(COL12A1):c.9103C>T (p.Arg3035Ter)

SNV
Germline

Chr6:75087655

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV004789722 RCV004791734 RCV005218315 RCV005254956

NM_004370.6(COL12A1):c.8348G>A (p.Gly2783Asp)

SNV
Germline

Chr6:75102664

Likely pathogenic

Bethlem myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV004789994

NM_004369.4(COL6A3):c.3488T>C (p.Ile1163Thr)

SNV
Germline

Chr2:237374603

Likely pathogenic

Bethlem myopathy 1C

Criteria Provided
Single Submitter

1 SubmittersRCV004813463

NM_001848.3(COL6A1):c.854A>G (p.Asp285Gly)

SNV
Germline

Chr21:45989133

Conflicting classifications of pathogenicity

Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004978944 RCV005110147

NM_001848.3(COL6A1):c.322G>A (p.Gly108Ser)

SNV
Germline

Chr21:45984363

Conflicting classifications of pathogenicity

Inborn genetic diseases
Bethlem myopathy 1A

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004978947 RCV005110148

NM_001848.3(COL6A1):c.738+1G>C

SNV
Germline

Chr21:45987176

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV005063974

NM_004369.4(COL6A3):c.6418G>T (p.Gly2140Ter)

SNV
Germline

Chr2:237358574

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV005128467

NM_004369.4(COL6A3):c.244C>T (p.Gln82Ter)

SNV
Germline

Chr2:237395052

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV005127033

NM_001848.3(COL6A1):c.94C>T (p.Gln32Ter)

SNV
Germline

Chr21:45981944

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV005147756

NM_004369.4(COL6A3):c.7357G>T (p.Glu2453Ter)

SNV
Germline

Chr2:237344661

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV005175849

NM_004369.4(COL6A3):c.6409-2A>G

SNV
Germline

Chr2:237358585

Likely pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV005204470

NM_001848.3(COL6A1):c.886G>A (p.Gly296Arg)

SNV
Germline

Chr21:45989635

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV005196237

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

SNV
Germline

Chr21:45990770

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV005196239

NM_004370.6(COL12A1):c.8578-2A>T

SNV
Germline

Chr6:75095181

Likely pathogenic

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005226159

NM_004370.6(COL12A1):c.593A>G (p.Tyr198Cys)

SNV
Germline

Chr6:75189617

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005226740 RCV005315854

NM_004370.6(COL12A1):c.3420C>G (p.Asn1140Lys)

SNV
Germline

Chr6:75155685

Conflicting classifications of pathogenicity

Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005226891 RCV005545301

NM_001848.3(COL6A1):c.98-1G>C

SNV
Germline

Chr21:45982633

Pathogenic

Bethlem myopathy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV005253297

NM_001849.4(COL6A2):c.595C>T (p.Gln199Ter)

SNV
Germline

Chr21:46112458

Likely pathogenic

Bethlem myopathy 1B

Criteria Provided
Single Submitter

1 SubmittersRCV005410140

NM_001849.4(COL6A2):c.901-2A>C

SNV
Germline

Chr21:46116375

Likely pathogenic

Bethlem myopathy 1B
Ullrich congenital muscular dystrophy 1B

Criteria Provided
Single Submitter

1 SubmittersRCV005410142

NM_001849.4(COL6A2):c.2065G>T (p.Glu689Ter)

SNV
Germline

Chr21:46125880

Likely pathogenic

Bethlem myopathy 1B
Ullrich congenital muscular dystrophy 1B
Myosclerosis

Criteria Provided
Single Submitter

1 SubmittersRCV005410143

NM_001849.4(COL6A2):c.1905G>T (p.Lys635Asn)

SNV
Germline

Chr21:46125553

Likely pathogenic

Bethlem myopathy 1B
Ullrich congenital muscular dystrophy 1B
Myosclerosis

Criteria Provided
Single Submitter

1 SubmittersRCV005412233