Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
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.1771-1G>A	SNV Germline	Chr21:46125265	Pathogenic	Ullrich congenital muscular dystrophy 1B	No Assertion Criteria Provided	CA410537784	rs_748035948	1 SubmittersRCV003764595
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.1117-10A>G	SNV Germline	Chr21:46118604	Pathogenic	Ullrich congenital muscular dystrophy 1B	No Assertion Criteria Provided	CA891843542	rs_1568931397	1 SubmittersRCV003764597
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_001849.4(COL6A2):c.2626C>A (p.Arg876Ser)	SNV Germline	Chr21:46132118	Pathogenic	Ullrich congenital muscular dystrophy 1B	No Assertion Criteria Provided	CA259615	rs_387906608	1 SubmittersRCV003764619
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_001849.4(COL6A2):c.1771-1G>T	SNV Germline	Chr21:46125265	Pathogenic	Ullrich congenital muscular dystrophy 1B	No Assertion Criteria Provided	CA10575564	rs_748035948	1 SubmittersRCV003764645
NM_001849.4(COL6A2):c.803G>A (p.Gly268Asp)	SNV Germline	Chr21:46115873	Pathogenic/Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA215992	rs_397515333	2 SubmittersRCV000050246
NM_001849.4(COL6A2):c.1522-1G>A	SNV Germline	Chr21:46122107	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA221814	rs_398123646	1 SubmittersRCV000175422
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_001849.4(COL6A2):c.855+2T>G	SNV Germline	Chr21:46115927	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA221843	rs_113525292	1 SubmittersRCV000179392
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_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_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_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_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_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_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_001849.4(COL6A2):c.1063G>T (p.Gly355Cys)	SNV Germline	Chr21:46117883	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA239829	rs_794727061	1 SubmittersRCV000392800
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_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_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_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_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_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_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_001849.4(COL6A2):c.812G>A (p.Gly271Asp)	SNV Germline	Chr21:46115882	Pathogenic	Condition: not provided COL6A2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA275346	rs_794727788	2 SubmittersRCV000179391 RCV005250029
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_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_001849.4(COL6A2):c.892G>A (p.Gly298Arg)	SNV Germline	Chr21:46116045	Likely pathogenic	Myopathy	Criteria Provided Single Submitter	CA207251	rs_797045478	1 SubmittersRCV000193638
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_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_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.2200C>T (p.Arg734Cys)	SNV Germline	Chr21:46126015	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA10587369	rs_886038496	2 SubmittersRCV000246597 RCV003144179
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_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.244C>T (p.Gln82Ter)	SNV Germline	Chr21:46112107	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA10603684	rs_886041447	1 SubmittersRCV000398849
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_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_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_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_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_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_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_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_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_001849.4(COL6A2):c.920G>T (p.Gly307Val)	SNV Germline	Chr21:46116396	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA10604376	rs_886042541	1 SubmittersRCV000386261
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_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_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_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_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_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_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_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_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_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_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_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_001849.4(COL6A2):c.857G>T (p.Gly286Val)	SNV Germline	Chr21:46116010	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA10604780	rs_727502827	1 SubmittersRCV000300421
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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_001849.4(COL6A2):c.865G>T (p.Gly289Cys)	SNV Germline	Chr21:46116018	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA10605315	rs_886043270	1 SubmittersRCV000320945
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_001849.4(COL6A2):c.612C>T (p.Ile204=)	SNV Germline	Chr21:46112475	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA10605330	rs_773143298	2 SubmittersRCV000658927
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_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_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_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_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_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_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_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_001849.4(COL6A2):c.866G>A (p.Gly289Asp)	SNV Germline	Chr21:46116019	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA10605653	rs_886043554	1 SubmittersRCV000356935
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_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_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_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_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_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_001849.4(COL6A2):c.628G>A (p.Glu210Lys)	SNV Germline	Chr21:46112491	Conflicting classifications of pathogenicity	Condition: not provided Bethlem myopathy 1A Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA10071356	rs_113017484	6 SubmittersRCV000394295 RCV000537791 RCV001136630
NM_001849.4(COL6A2):c.2707G>A (p.Glu903Lys)	SNV Germline	Chr21:46132199	Conflicting classifications of pathogenicity	Myosclerosis Condition: not provided Collagen 6-related myopathy Bethlem myopathy 1A	Criteria Provided Conflicting Classifications	CA10072983	rs_373611722	5 SubmittersRCV000268727 RCV000327831 RCV000326181 RCV000822191
NM_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_001849.4(COL6A2):c.900+1G>C	SNV Germline	Chr21:46116054	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA10606544	rs_886044261	1 SubmittersRCV000594273
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_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_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_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_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_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_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_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_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_001849.4(COL6A2):c.856-2A>C	SNV Germline	Chr21:46116007	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA10606790	rs_886044466	1 SubmittersRCV000378125
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_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_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_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_001849.4(COL6A2):c.1458+1G>A	SNV Germline	Chr21:46121124	Pathogenic/Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10606869	rs_886044526	2 SubmittersRCV000357054
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_001849.4(COL6A2):c.3058T>C (p.Ter1020Gln)	SNV Germline	Chr21:46132550	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA10606930	rs_886044576	2 SubmittersRCV000380796
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_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_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.2264C>T (p.Thr755Met)	SNV Germline	Chr21:46126079	Conflicting classifications of pathogenicity	Myosclerosis Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA10072493	rs_369954815	1 SubmittersRCV000274653 RCV000329879
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_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_001849.4(COL6A2):c.537G>A (p.Arg179=)	SNV Germline	Chr21:46112400	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Myosclerosis	Criteria Provided Conflicting Classifications	CA10071327	rs_762450920	1 SubmittersRCV000280177 RCV000371578
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_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.2436G>A (p.Val812=)	SNV Germline	Chr21:46126516	Conflicting classifications of pathogenicity	Collagen 6-related myopathy Myosclerosis	Criteria Provided Conflicting Classifications	CA10072622	rs_372745282	1 SubmittersRCV000284501 RCV000341882
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_001849.4(COL6A2):c.*147C>T	SNV Germline	Chr21:46132699	Conflicting classifications of pathogenicity	Myosclerosis Collagen 6-related myopathy	Criteria Provided Conflicting Classifications	CA10653721	rs_560095085	1 SubmittersRCV000281913 RCV000336914
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_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_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.1117-9C>T	SNV Germline	Chr21:46118605	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA16608539	rs_1057523383	2 SubmittersRCV000439600 RCV000732308
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_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_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_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_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_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_001849.4(COL6A2):c.94G>T (p.Glu32Ter)	SNV Germline	Chr21:46111570	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA410519570	rs_547648292	1 SubmittersRCV000520825
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_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_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_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_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_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.265C>T (p.Gln89Ter)	SNV Germline	Chr21:46112128	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA410520500	rs_1555871390	1 SubmittersRCV000594703
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_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_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_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_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_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_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_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_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_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_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_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_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_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_001849.4(COL6A2):c.1180-1G>C	SNV Germline	Chr21:46119029	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA410529718	rs_751409618	1 SubmittersRCV000597341
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_001849.4(COL6A2):c.*4C>T	SNV Germline	Chr21:46132556	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA10073164	rs_370155138	3 SubmittersRCV000594982
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_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_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_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_001849.4(COL6A2):c.838G>A (p.Gly280Ser)	SNV Germline	Chr21:46115908	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA410524806	rs_886043323	1 SubmittersRCV000594786
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_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_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_001849.4(COL6A2):c.955-2A>G	SNV Germline	Chr21:46116768	Pathogenic	Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA410527125	rs_1555873084	2 SubmittersRCV000623661 RCV005431811
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_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_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_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_001849.4(COL6A2):c.2133C>G (p.Tyr711Ter)	SNV Germline	Chr21:46125948	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA410541681	rs_531816975	1 SubmittersRCV000658929
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_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_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_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_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_001849.4(COL6A2):c.893G>C (p.Gly298Ala)	SNV Germline	Chr21:46116046	Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA410525359	rs_1487638242	2 SubmittersRCV000729334
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_001849.4(COL6A2):c.1396-1G>A	SNV Germline	Chr21:46121060	Pathogenic/Likely pathogenic	Condition: not provided COL6A2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA410531310	rs_1331260332	3 SubmittersRCV000729510 RCV004535822
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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_001849.4(COL6A2):c.847G>C (p.Gly283Arg)	SNV Germline	Chr21:46115917	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA410524878	rs_267606748	1 SubmittersRCV001091898
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_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_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_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_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_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_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_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_001849.4(COL6A2):c.1072G>T (p.Gly358Trp)	SNV Unknown	Chr21:46117892	Likely pathogenic	Collagen 6-related myopathy	Criteria Provided Single Submitter	CA410527516	rs_2078499825	1 SubmittersRCV001249754
NM_001849.4(COL6A2):c.928-2A>G	SNV Germline	Chr21:46116649	Likely pathogenic	Ullrich congenital muscular dystrophy 1A	Criteria Provided Single Submitter	CA410526812	rs_1440070681	1 SubmittersRCV001253655
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_001849.4(COL6A2):c.1135G>A (p.Gly379Arg)	SNV Germline	Chr21:46118632	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA410528002	rs_2078513383	1 SubmittersRCV001311584
NM_058174.3(COL6A2):c.2554C>T (p.Gln852Ter)	SNV Unknown	Chr21:46129288	Pathogenic	Ullrich congenital muscular dystrophy 1A	Criteria Provided Single Submitter	CA10072771	rs_777172978	1 SubmittersRCV001331589
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_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_001849.4(COL6A2):c.111C>A (p.Cys37Ter)	SNV Germline	Chr21:46111587	Likely pathogenic	Ullrich congenital muscular dystrophy 1A	Criteria Provided Single Submitter	CA321957047	rs_986393872	1 SubmittersRCV001375966
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_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_001849.4(COL6A2):c.-27-3C>G	SNV Germline	Chr21:46111447	Likely pathogenic	Ullrich congenital muscular dystrophy 1A	No Assertion Criteria Provided	CA638180904	rs_1288520983	1 SubmittersRCV001542700
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_001849.4(COL6A2):c.982G>A (p.Gly328Arg)	SNV Germline	Chr21:46116797	Likely pathogenic	Ullrich congenital muscular dystrophy 1A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA321963358	rs_779867653	2 SubmittersRCV001706917 RCV005001234
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_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_001849.4(COL6A2):c.893G>T (p.Gly298Val)	SNV Germline	Chr21:46116046	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA410525361	rs_1487638242	1 SubmittersRCV001780842
NM_001849.4(COL6A2):c.1521+1G>A	SNV Germline	Chr21:46121619	Pathogenic/Likely pathogenic	Condition: not provided Ullrich congenital muscular dystrophy 1B	Criteria Provided Multiple Submitters No Conflicts	CA410532364	rs_2123646873	2 SubmittersRCV001780844 RCV003989709
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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_001849.4(COL6A2):c.1055G>A (p.Gly352Asp)	SNV Germline	Chr21:46117875	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA410527428	rs_2123632697	1 SubmittersRCV002263283
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_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_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_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_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_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_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_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_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_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_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_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_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_001849.4(COL6A2):c.839G>T (p.Gly280Val)	SNV Germline	Chr21:46115909	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA410524816	rs_1568928804	1 SubmittersRCV003136551
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_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_001849.4(COL6A2):c.1021C>A (p.Pro341Thr)	SNV Germline	Chr21:46117421	Likely pathogenic	Ullrich congenital muscular dystrophy 1A	Criteria Provided Single Submitter	CA410527339	rs_2078489585	1 SubmittersRCV003314086
NM_001849.4(COL6A2):c.1179+1G>T	SNV Germline	Chr21:46118677	Likely pathogenic	Ullrich congenital muscular dystrophy 1A	Criteria Provided Single Submitter	CA410528412	rs_2078514224	1 SubmittersRCV003389377
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_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_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_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_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_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_001849.4(COL6A2):c.928G>T (p.Gly310Cys)	SNV Germline	Chr21:46116651	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA410526834	rs_2516996853	1 SubmittersRCV003993252
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.1654G>A (p.Gly552Arg)	SNV Germline	Chr21:46122920	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_2517009442	1 SubmittersRCV004592026
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_001849.4(COL6A2):c.2106G>A (p.Trp702Ter)	SNV Germline	Chr21:46125921	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004720138
NM_001849.4(COL6A2):c.2087G>A (p.Trp696Ter)	SNV Germline	Chr21:46125902	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004769926
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_001849.4(COL6A2):c.310C>T (p.Gln104Ter)	SNV Unknown	Chr21:46112173	Pathogenic	Ullrich congenital muscular dystrophy 1B	Criteria Provided Single Submitter			1 SubmittersRCV005234918
NM_058174.3(COL6A2):c.2650G>A (p.Ala884Thr)	SNV Germline	Chr21:46129384	Conflicting classifications of pathogenicity	Condition: not provided Collagen 6-related myopathy	Criteria Provided Conflicting Classifications			2 SubmittersRCV005244518 RCV005358262

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.1771-1G>A

SNV
Germline

Chr21:46125265

Pathogenic

Ullrich congenital muscular dystrophy 1B

No Assertion Criteria Provided

CA410537784

rs_748035948

1 SubmittersRCV003764595

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.1117-10A>G

SNV
Germline

Chr21:46118604

Pathogenic

Ullrich congenital muscular dystrophy 1B

No Assertion Criteria Provided

CA891843542

rs_1568931397

1 SubmittersRCV003764597

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_001849.4(COL6A2):c.2626C>A (p.Arg876Ser)

SNV
Germline

Chr21:46132118

Pathogenic

Ullrich congenital muscular dystrophy 1B

No Assertion Criteria Provided

CA259615

rs_387906608

1 SubmittersRCV003764619

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_001849.4(COL6A2):c.1771-1G>T

SNV
Germline

Chr21:46125265

Pathogenic

Ullrich congenital muscular dystrophy 1B

No Assertion Criteria Provided

CA10575564

rs_748035948

1 SubmittersRCV003764645

NM_001849.4(COL6A2):c.803G>A (p.Gly268Asp)

SNV
Germline

Chr21:46115873

Pathogenic/Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA215992

rs_397515333

2 SubmittersRCV000050246

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

SNV
Germline

Chr21:46122107

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA221814

rs_398123646

1 SubmittersRCV000175422

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_001849.4(COL6A2):c.855+2T>G

SNV
Germline

Chr21:46115927

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA221843

rs_113525292

1 SubmittersRCV000179392

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_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_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_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_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_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_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_001849.4(COL6A2):c.1063G>T (p.Gly355Cys)

SNV
Germline

Chr21:46117883

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA239829

rs_794727061

1 SubmittersRCV000392800

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_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_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_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_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_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_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_001849.4(COL6A2):c.812G>A (p.Gly271Asp)

SNV
Germline

Chr21:46115882

Pathogenic

Condition: not provided
COL6A2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA275346

rs_794727788

2 SubmittersRCV000179391 RCV005250029

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_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_001849.4(COL6A2):c.892G>A (p.Gly298Arg)

SNV
Germline

Chr21:46116045

Likely pathogenic

Myopathy

Criteria Provided
Single Submitter

CA207251

rs_797045478

1 SubmittersRCV000193638

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_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_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.2200C>T (p.Arg734Cys)

SNV
Germline

Chr21:46126015

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10587369

rs_886038496

2 SubmittersRCV000246597 RCV003144179

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_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.244C>T (p.Gln82Ter)

SNV
Germline

Chr21:46112107

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA10603684

rs_886041447

1 SubmittersRCV000398849

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_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_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_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_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_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_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_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_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_001849.4(COL6A2):c.920G>T (p.Gly307Val)

SNV
Germline

Chr21:46116396

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA10604376

rs_886042541

1 SubmittersRCV000386261

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_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_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_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_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_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_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_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_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_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_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_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_001849.4(COL6A2):c.857G>T (p.Gly286Val)

SNV
Germline

Chr21:46116010

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA10604780

rs_727502827

1 SubmittersRCV000300421

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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_001849.4(COL6A2):c.865G>T (p.Gly289Cys)

SNV
Germline

Chr21:46116018

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA10605315

rs_886043270

1 SubmittersRCV000320945

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_001849.4(COL6A2):c.612C>T (p.Ile204=)

SNV
Germline

Chr21:46112475

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA10605330

rs_773143298

2 SubmittersRCV000658927

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_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_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_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_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_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_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_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_001849.4(COL6A2):c.866G>A (p.Gly289Asp)

SNV
Germline

Chr21:46116019

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA10605653

rs_886043554

1 SubmittersRCV000356935

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_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_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_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_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_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_001849.4(COL6A2):c.628G>A (p.Glu210Lys)

SNV
Germline

Chr21:46112491

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10071356

rs_113017484

6 SubmittersRCV000394295 RCV000537791 RCV001136630

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

SNV
Germline

Chr21:46132199

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10072983

rs_373611722

5 SubmittersRCV000268727 RCV000327831 RCV000326181 RCV000822191

NM_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_001849.4(COL6A2):c.900+1G>C

SNV
Germline

Chr21:46116054

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA10606544

rs_886044261

1 SubmittersRCV000594273

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_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_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_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_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_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_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_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_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_001849.4(COL6A2):c.856-2A>C

SNV
Germline

Chr21:46116007

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA10606790

rs_886044466

1 SubmittersRCV000378125

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_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_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_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_001849.4(COL6A2):c.1458+1G>A

SNV
Germline

Chr21:46121124

Pathogenic/Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10606869

rs_886044526

2 SubmittersRCV000357054

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_001849.4(COL6A2):c.3058T>C (p.Ter1020Gln)

SNV
Germline

Chr21:46132550

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA10606930

rs_886044576

2 SubmittersRCV000380796

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_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_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.2264C>T (p.Thr755Met)

SNV
Germline

Chr21:46126079

Conflicting classifications of pathogenicity

Myosclerosis
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA10072493

rs_369954815

1 SubmittersRCV000274653 RCV000329879

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_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_001849.4(COL6A2):c.537G>A (p.Arg179=)

SNV
Germline

Chr21:46112400

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Myosclerosis

Criteria Provided
Conflicting Classifications

CA10071327

rs_762450920

1 SubmittersRCV000280177 RCV000371578

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_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.2436G>A (p.Val812=)

SNV
Germline

Chr21:46126516

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Myosclerosis

Criteria Provided
Conflicting Classifications

CA10072622

rs_372745282

1 SubmittersRCV000284501 RCV000341882

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_001849.4(COL6A2):c.*147C>T

SNV
Germline

Chr21:46132699

Conflicting classifications of pathogenicity

Myosclerosis
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

CA10653721

rs_560095085

1 SubmittersRCV000281913 RCV000336914

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_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_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.1117-9C>T

SNV
Germline

Chr21:46118605

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16608539

rs_1057523383

2 SubmittersRCV000439600 RCV000732308

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_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_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_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_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_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_001849.4(COL6A2):c.94G>T (p.Glu32Ter)

SNV
Germline

Chr21:46111570

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA410519570

rs_547648292

1 SubmittersRCV000520825

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_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_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_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_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_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.265C>T (p.Gln89Ter)

SNV
Germline

Chr21:46112128

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA410520500

rs_1555871390

1 SubmittersRCV000594703

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_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_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_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_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_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_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_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_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_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_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_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_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_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_001849.4(COL6A2):c.1180-1G>C

SNV
Germline

Chr21:46119029

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA410529718

rs_751409618

1 SubmittersRCV000597341

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_001849.4(COL6A2):c.*4C>T

SNV
Germline

Chr21:46132556

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA10073164

rs_370155138

3 SubmittersRCV000594982

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_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_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_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_001849.4(COL6A2):c.838G>A (p.Gly280Ser)

SNV
Germline

Chr21:46115908

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA410524806

rs_886043323

1 SubmittersRCV000594786

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_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_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_001849.4(COL6A2):c.955-2A>G

SNV
Germline

Chr21:46116768

Pathogenic

Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA410527125

rs_1555873084

2 SubmittersRCV000623661 RCV005431811

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_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_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_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_001849.4(COL6A2):c.2133C>G (p.Tyr711Ter)

SNV
Germline

Chr21:46125948

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA410541681

rs_531816975

1 SubmittersRCV000658929

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_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_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_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_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_001849.4(COL6A2):c.893G>C (p.Gly298Ala)

SNV
Germline

Chr21:46116046

Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA410525359

rs_1487638242

2 SubmittersRCV000729334

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_001849.4(COL6A2):c.1396-1G>A

SNV
Germline

Chr21:46121060

Pathogenic/Likely pathogenic

Condition: not provided
COL6A2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA410531310

rs_1331260332

3 SubmittersRCV000729510 RCV004535822

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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_001849.4(COL6A2):c.847G>C (p.Gly283Arg)

SNV
Germline

Chr21:46115917

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA410524878

rs_267606748

1 SubmittersRCV001091898

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_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_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_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_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_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_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_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_001849.4(COL6A2):c.1072G>T (p.Gly358Trp)

SNV
Unknown

Chr21:46117892

Likely pathogenic

Collagen 6-related myopathy

Criteria Provided
Single Submitter

CA410527516

rs_2078499825

1 SubmittersRCV001249754

NM_001849.4(COL6A2):c.928-2A>G

SNV
Germline

Chr21:46116649

Likely pathogenic

Ullrich congenital muscular dystrophy 1A

Criteria Provided
Single Submitter

CA410526812

rs_1440070681

1 SubmittersRCV001253655

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_001849.4(COL6A2):c.1135G>A (p.Gly379Arg)

SNV
Germline

Chr21:46118632

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA410528002

rs_2078513383

1 SubmittersRCV001311584

NM_058174.3(COL6A2):c.2554C>T (p.Gln852Ter)

SNV
Unknown

Chr21:46129288

Pathogenic

Ullrich congenital muscular dystrophy 1A

Criteria Provided
Single Submitter

CA10072771

rs_777172978

1 SubmittersRCV001331589

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_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_001849.4(COL6A2):c.111C>A (p.Cys37Ter)

SNV
Germline

Chr21:46111587

Likely pathogenic

Ullrich congenital muscular dystrophy 1A

Criteria Provided
Single Submitter

CA321957047

rs_986393872

1 SubmittersRCV001375966

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_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_001849.4(COL6A2):c.-27-3C>G

SNV
Germline

Chr21:46111447

Likely pathogenic

Ullrich congenital muscular dystrophy 1A

No Assertion Criteria Provided

CA638180904

rs_1288520983

1 SubmittersRCV001542700

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_001849.4(COL6A2):c.982G>A (p.Gly328Arg)

SNV
Germline

Chr21:46116797

Likely pathogenic

Ullrich congenital muscular dystrophy 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA321963358

rs_779867653

2 SubmittersRCV001706917 RCV005001234

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_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_001849.4(COL6A2):c.893G>T (p.Gly298Val)

SNV
Germline

Chr21:46116046

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA410525361

rs_1487638242

1 SubmittersRCV001780842

NM_001849.4(COL6A2):c.1521+1G>A

SNV
Germline

Chr21:46121619

Pathogenic/Likely pathogenic

Condition: not provided
Ullrich congenital muscular dystrophy 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA410532364

rs_2123646873

2 SubmittersRCV001780844 RCV003989709

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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_001849.4(COL6A2):c.1055G>A (p.Gly352Asp)

SNV
Germline

Chr21:46117875

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA410527428

rs_2123632697

1 SubmittersRCV002263283

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_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_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_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_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_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_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_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_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_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_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_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_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_001849.4(COL6A2):c.839G>T (p.Gly280Val)

SNV
Germline

Chr21:46115909

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA410524816

rs_1568928804

1 SubmittersRCV003136551

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_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_001849.4(COL6A2):c.1021C>A (p.Pro341Thr)

SNV
Germline

Chr21:46117421

Likely pathogenic

Ullrich congenital muscular dystrophy 1A

Criteria Provided
Single Submitter

CA410527339

rs_2078489585

1 SubmittersRCV003314086

NM_001849.4(COL6A2):c.1179+1G>T

SNV
Germline

Chr21:46118677

Likely pathogenic

Ullrich congenital muscular dystrophy 1A

Criteria Provided
Single Submitter

CA410528412

rs_2078514224

1 SubmittersRCV003389377

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_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_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_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_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_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_001849.4(COL6A2):c.928G>T (p.Gly310Cys)

SNV
Germline

Chr21:46116651

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA410526834

rs_2516996853

1 SubmittersRCV003993252

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.1654G>A (p.Gly552Arg)

SNV
Germline

Chr21:46122920

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_2517009442

1 SubmittersRCV004592026

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_001849.4(COL6A2):c.2106G>A (p.Trp702Ter)

SNV
Germline

Chr21:46125921

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004720138

NM_001849.4(COL6A2):c.2087G>A (p.Trp696Ter)

SNV
Germline

Chr21:46125902

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004769926

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_001849.4(COL6A2):c.310C>T (p.Gln104Ter)

SNV
Unknown

Chr21:46112173

Pathogenic

Ullrich congenital muscular dystrophy 1B

Criteria Provided
Single Submitter

1 SubmittersRCV005234918

NM_058174.3(COL6A2):c.2650G>A (p.Ala884Thr)

SNV
Germline

Chr21:46129384

Conflicting classifications of pathogenicity

Condition: not provided
Collagen 6-related myopathy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005244518 RCV005358262

NM_001849.4(COL6A2):c.893G>A (p.Gly298Glu)

SNV
Germline

Chr21:46116046

Pathogenic

Ullrich congenital muscular dystrophy 1A

Criteria Provided
Single Submitter

1 SubmittersRCV005253432

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

NM_001849.4(COL6A2):c.1117-1G>A

SNV
Germline

Chr21:46118613

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005425554