A total 605 pathogenic variants reported in gene collagen type VI alpha 2 chain (COL6A2)  
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 SubmittersRCV001781280RCV000018695RCV003764593

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 SubmittersRCV000018699RCV000725485RCV004574029

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 SubmittersRCV003764599RCV000018703

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 SubmittersRCV000018704RCV000149938RCV000302217RCV000359356RCV000859498RCV003764600RCV004532388

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 SubmittersRCV001327989RCV003764601RCV000480797RCV000018705

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 SubmittersRCV000529271RCV001091900RCV003764602

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 SubmittersRCV000269898RCV000816890RCV004799747RCV003764603

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 SubmittersRCV000710888RCV001138981RCV001138980RCV003764604RCV000653500

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 SubmittersRCV000193161RCV000387708RCV001208362RCV005409631RCV005252803

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 SubmittersRCV000254747RCV000796659RCV003764621

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 SubmittersRCV000778644RCV001054018RCV000591047RCV003764622

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 SubmittersRCV000259240RCV000300588RCV000415855RCV000709829RCV001084118RCV003319318RCV005625276RCV005394344RCV005417455

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 SubmittersRCV000079876RCV000723639RCV005089542

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 SubmittersRCV000079880RCV001086738

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 SubmittersRCV000079881RCV001084761RCV004734637

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 SubmittersRCV000079885RCV000796644RCV002514404

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 SubmittersRCV000316583RCV000378558RCV000723766RCV001083627RCV005434630RCV002226455RCV004537335

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 SubmittersRCV000593309RCV000810925

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 SubmittersRCV001330649RCV000735128RCV001138979RCV005318332RCV002514869

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 SubmittersRCV000512668RCV000808953

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 SubmittersRCV000149937RCV000316783RCV000373797RCV001053729RCV002514870

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 SubmittersRCV000153083RCV000557300

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 SubmittersRCV000153086RCV000704454RCV004700477

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 SubmittersRCV000153082RCV000808812RCV004596075

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 SubmittersRCV000153084RCV000723870RCV001079810

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 SubmittersRCV000171510RCV001337641

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 SubmittersRCV000407691RCV000311316RCV000536085RCV000724011RCV004725025

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 SubmittersRCV000174304RCV000300853RCV000353406RCV001086194RCV000762045RCV004539608

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 SubmittersRCV000232259RCV000300525RCV000544905RCV000766827RCV000391113RCV003483560RCV001267221RCV004783756

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 SubmittersRCV000348429RCV000400775RCV000724812RCV001081936RCV004539622

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 SubmittersRCV000391111RCV000724248RCV001087783RCV000249787RCV000355395

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 SubmittersRCV000724735RCV001084510

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 SubmittersRCV000176543RCV002517698

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 SubmittersRCV000176645RCV001368873

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 SubmittersRCV000176647RCV000990370RCV003441146

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 SubmittersRCV000367104RCV000723503RCV005434677RCV004537414RCV000310053RCV001087613

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 SubmittersRCV000176857RCV000724103RCV001088613

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 SubmittersRCV000241740RCV000294726RCV000351968RCV000724665RCV001086781

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 SubmittersRCV000176865RCV001460927

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 SubmittersRCV000176866RCV001089400RCV004537415

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 SubmittersRCV000351153RCV000407370RCV000724824RCV001078865

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 SubmittersRCV000178169RCV000805017

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 SubmittersRCV000178850RCV000178851RCV001814091

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 SubmittersRCV000179391RCV005250029

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 SubmittersRCV000179831RCV000179832

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 SubmittersRCV000180577RCV001141472RCV001212040RCV004020175

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 SubmittersRCV000194202RCV000266193RCV000546019RCV002227456

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 SubmittersRCV000197493RCV000593438

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 SubmittersRCV000234070RCV000726521RCV000685020

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 SubmittersRCV000245843RCV000725361RCV001506284

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 SubmittersRCV000246597RCV003144179

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 SubmittersRCV000354105RCV000255313RCV000626815RCV000844694RCV001261891RCV001814135RCV002227463RCV000556474RCV003989514

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 SubmittersRCV000254951RCV000560338RCV002227464

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 SubmittersRCV000332897RCV000985002RCV003326395

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 SubmittersRCV000285371RCV000377482RCV001087885RCV000400296RCV005621930

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 SubmittersRCV000345672RCV001855079

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 SubmittersRCV000312881RCV000653564

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 SubmittersRCV001087941RCV000724993

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 SubmittersRCV000353251RCV001141921RCV000653559

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 SubmittersRCV000388801RCV000653599

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 SubmittersRCV000329881RCV000386454RCV000723333RCV000725047RCV001257054RCV002227938

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 SubmittersRCV000300120RCV000363018RCV000359590RCV001731555RCV001085703

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 SubmittersRCV000393107RCV001089055

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 SubmittersRCV000287971RCV000347425RCV000366940RCV000784948RCV001078904RCV004734917

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 SubmittersRCV000362949RCV001855103

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 SubmittersRCV000368026RCV002518853

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 SubmittersRCV000302508RCV000341130RCV000386408RCV001086405

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 SubmittersRCV000368110RCV000764266RCV001045882

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 SubmittersRCV000343634RCV000699520

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 SubmittersRCV000283767RCV002059121RCV004689701

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 SubmittersRCV000372608RCV001070638RCV001143206RCV004609342RCV005621932

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 SubmittersRCV000265309RCV002059122

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 SubmittersRCV000321947RCV001451998

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 SubmittersRCV000342638RCV000372671RCV000398389RCV002059124

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 SubmittersRCV000653524RCV000363837RCV001141920RCV003338498

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 SubmittersRCV000384792RCV000725249RCV001087272

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 SubmittersRCV000334522RCV001086551

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 SubmittersRCV000289005RCV000381103RCV000387663RCV000725254RCV001087725RCV004543021

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 SubmittersRCV000352654RCV003631102

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 SubmittersRCV000276018RCV000553120RCV001139298

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 SubmittersRCV000337509RCV002518892

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 SubmittersRCV000380258RCV001088912

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 SubmittersRCV000287924RCV001504105

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 SubmittersRCV000280808RCV000821673RCV004535311

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 SubmittersRCV000281842RCV002059146

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 SubmittersRCV000270832RCV000325923RCV000329762RCV000766751RCV001087788RCV004543048

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 SubmittersRCV000299418RCV001855143

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 SubmittersRCV000337022RCV000477924RCV001265687RCV001303665

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 SubmittersRCV000384759RCV001216066

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 SubmittersRCV000259339RCV001078558

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 SubmittersRCV000371289RCV001086987RCV004543053RCV005318358

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 SubmittersRCV000266261RCV000358384RCV000373659RCV001086941

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 SubmittersRCV000351072RCV001086943

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 SubmittersRCV000265780RCV002059165

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 SubmittersRCV000261412RCV000318994RCV000326800RCV001007855

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 SubmittersRCV000336271RCV002519166

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 SubmittersRCV000333624RCV001395296RCV004734930

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 SubmittersRCV000370084RCV001506229

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 SubmittersRCV000286457RCV000339179RCV000513122RCV000551936

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 SubmittersRCV000314635RCV000653674RCV002274976RCV004543063

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 SubmittersRCV000323801RCV002059171RCV005396881

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 SubmittersRCV000337273RCV001223613

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 SubmittersRCV000282777RCV001859619

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 SubmittersRCV000725669RCV001055469RCV002518968

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 SubmittersRCV000316296RCV000821145RCV004535353

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 SubmittersRCV000378532RCV001136744RCV001409461

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 SubmittersRCV000370445RCV000812303RCV002519190

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 SubmittersRCV000270748RCV001855158

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 SubmittersRCV000286874RCV000653507RCV001330654RCV001139297

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 SubmittersRCV000305547RCV000338896RCV000406254RCV001347096

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 SubmittersRCV000363352RCV000653539RCV001141703

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 SubmittersRCV000265343RCV000702321

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 SubmittersRCV000324629RCV001301872

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 SubmittersRCV000407705RCV001089285

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 SubmittersRCV000382914RCV001423764

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 SubmittersRCV000330968RCV000800722

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 SubmittersRCV000327665RCV000365882RCV001082800RCV000372828RCV004535358RCV000725775

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 SubmittersRCV000389013RCV000725795

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 SubmittersRCV000264062RCV001257058RCV002227118

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 SubmittersRCV000288156RCV001855169

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 SubmittersRCV000725813RCV001081483RCV001141355RCV004999231RCV004543076

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 SubmittersRCV000362593RCV002519219

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 SubmittersRCV000300938RCV000379038RCV001085020RCV000390977

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 SubmittersRCV000332019RCV001087813RCV001139091

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 SubmittersRCV000367936RCV000557776RCV005355599

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 SubmittersRCV000391271RCV000725902RCV000335376RCV001082860RCV001261892RCV004535372

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 SubmittersRCV000726012RCV001079446

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 SubmittersRCV000295337RCV002059226

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 SubmittersRCV000291764RCV001079071

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 SubmittersRCV000382527RCV001081285RCV002521980

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 SubmittersRCV000324379RCV000794080RCV001141474

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 SubmittersRCV000394463RCV001248350RCV003352822RCV002252084RCV003992262

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 SubmittersRCV000357521RCV000778643RCV001059137RCV003338507

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 SubmittersRCV000390666RCV000690514RCV005411400

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 SubmittersRCV000259742RCV000348651RCV000393023RCV000873283RCV001718584

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 SubmittersRCV000403400RCV000555408RCV004535404

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 SubmittersRCV000262696RCV000301508RCV000354320RCV001081923

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 SubmittersRCV000394295RCV000537791RCV001136630

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 SubmittersRCV000268727RCV000327831RCV000326181RCV000822191

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 SubmittersRCV000284297RCV000824045

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 SubmittersRCV000365068RCV001087186RCV004535412

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 SubmittersRCV000265744RCV000705599

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 SubmittersRCV000386796RCV000526278

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 SubmittersRCV000397775RCV000685619

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 SubmittersRCV000726187RCV000694478RCV002519307RCV005355608RCV001270045

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 SubmittersRCV000362319RCV000809905RCV000764267RCV004734941

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 SubmittersRCV000383351RCV000537812

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 SubmittersRCV000394638RCV001088739

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 SubmittersRCV000277859RCV001475051

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 SubmittersRCV000343973RCV001457744

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 SubmittersRCV000371662RCV000726212RCV001455049RCV004543118

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 SubmittersRCV000726224RCV001326188

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 SubmittersRCV000382585RCV001141702RCV001080623

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 SubmittersRCV000393868RCV000726229

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 SubmittersRCV000349190RCV000794402

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 SubmittersRCV000391861RCV001085504

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 SubmittersRCV000726260RCV001088483RCV004543120

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 SubmittersRCV000355001RCV001248438RCV001804998

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 SubmittersRCV000657920RCV000591727

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 SubmittersRCV000316159RCV001084703RCV004543124

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 SubmittersRCV000347921RCV002518080

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 SubmittersRCV000330502RCV001850446

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 SubmittersRCV000340331RCV000559325

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 SubmittersRCV000264028RCV000706105RCV004975402RCV004535434

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 SubmittersRCV000311292RCV000800095RCV002518099

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 SubmittersRCV000592663RCV002519326

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 SubmittersRCV000282683RCV002059275

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 SubmittersRCV000374520RCV000726434RCV001859709

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 SubmittersRCV000403904RCV001426457

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 SubmittersRCV000597057RCV002518124

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 SubmittersRCV000348196RCV002059284

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 SubmittersRCV000343057RCV001325819

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 SubmittersRCV000344911RCV000653653

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 SubmittersRCV000351377RCV001475925

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 SubmittersRCV000316070RCV004543138RCV001078997RCV001143525

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 SubmittersRCV000284396RCV001087947

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 SubmittersRCV001225882RCV001820838RCV000407122RCV003389051

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 SubmittersRCV000306725RCV002519342

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 SubmittersRCV000271536RCV001139087RCV001423757

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 SubmittersRCV000278481RCV003343746RCV001139200RCV000699042

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 SubmittersRCV000279429RCV002059299

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 SubmittersRCV000334369RCV000810817

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 SubmittersRCV000276191RCV001087563

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 SubmittersRCV000394253RCV003278744RCV000726572RCV001084509RCV001143419RCV004543145

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 SubmittersRCV000300050RCV001850479RCV004543146RCV001136741

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 SubmittersRCV000265412RCV000329456RCV000355457RCV001078838

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 SubmittersRCV000309788RCV001088833

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 SubmittersRCV000345034RCV001461030

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 SubmittersRCV000262016RCV000368303RCV001214463RCV004975464

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 SubmittersRCV000303949RCV000393933RCV001081672RCV000730302

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 SubmittersRCV000310024RCV000364566RCV002057779

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 SubmittersRCV000274653RCV000329879

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 SubmittersRCV000338477RCV000400355RCV001088671RCV000596507

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 SubmittersRCV000342235RCV000393836RCV002523191RCV003144235RCV001056159

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 SubmittersRCV000363263RCV000393901RCV000873809RCV000593658RCV001812879

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 SubmittersRCV000281777RCV000320418RCV000593147RCV000794426

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 SubmittersRCV000328906RCV000385853RCV000694258RCV001569334

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 SubmittersRCV000278533RCV000389290RCV001343854RCV004735492RCV005418088RCV003137965

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 SubmittersRCV000276274RCV000368594RCV000597101RCV002057780

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 SubmittersRCV000280177RCV000371578

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 SubmittersRCV000270969RCV000363224RCV000512764RCV001865241

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 SubmittersRCV000347316RCV000407690RCV001446051

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 SubmittersRCV000296822RCV000332961RCV000731787RCV001082481

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 SubmittersRCV000344482RCV000804442RCV000401616RCV003430869

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 SubmittersRCV000291050RCV000733642RCV001445261RCV000383013

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 SubmittersRCV000337382RCV000653558RCV000392176RCV003144236

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 SubmittersRCV000310823RCV000393856RCV001569668RCV002523192

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 SubmittersRCV000312456RCV000390038RCV002523193

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 SubmittersRCV000346561RCV000387074RCV000808997

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 SubmittersRCV000328455RCV000364635RCV000732427RCV002523194

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 SubmittersRCV000284501RCV000341882

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 SubmittersRCV000274976RCV000332359RCV000604934RCV000955634

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 SubmittersRCV000308256RCV000365215RCV000551844RCV005318380

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 SubmittersRCV000281913RCV000336914

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 SubmittersRCV000414393RCV001861417

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 SubmittersRCV000415423RCV000733636RCV001775116RCV003517189

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 SubmittersRCV000416252RCV001078940

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 SubmittersRCV000438485RCV000727220RCV005090808

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 SubmittersRCV001143207RCV000726494RCV001501842

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 SubmittersRCV000436697RCV000726947RCV003631120

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 SubmittersRCV000439600RCV000732308

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 SubmittersRCV000428550RCV000734891RCV001436727RCV004533118

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 SubmittersRCV000423788RCV001851051RCV005409653

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 SubmittersRCV000438497RCV000726796RCV002059747

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 SubmittersRCV000481104RCV001381261

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 SubmittersRCV000488099RCV001452859

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 SubmittersRCV000489066RCV001376646

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 SubmittersRCV000499945RCV001063163

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 SubmittersRCV000513339RCV001857321

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 SubmittersRCV000540933RCV000578736

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 SubmittersRCV000591791RCV001085124

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 SubmittersRCV000525313RCV001139199RCV001139198RCV003229838

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 SubmittersRCV000525868RCV005357616

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 SubmittersRCV000554332RCV000779359RCV003318594

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 SubmittersRCV001085505RCV001141593RCV000594262RCV005431764

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 SubmittersRCV000537082RCV005318429

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 SubmittersRCV000546795RCV000609723RCV001143621RCV003431122

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 SubmittersRCV001084615RCV000730361RCV005027659

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 SubmittersRCV000730529RCV001471457

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 SubmittersRCV000527074RCV000997847

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 SubmittersRCV000556569RCV000733635RCV000660619

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 SubmittersRCV000541027RCV001653926RCV005318430

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 SubmittersRCV001087484RCV000597796RCV000726671

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 SubmittersRCV000550156RCV003767089

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 SubmittersRCV000548374RCV004691912RCV004735628RCV003258877

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 SubmittersRCV000584913RCV000653580RCV004771479RCV005091525

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 SubmittersRCV000594617RCV000726508RCV001439006RCV004543314

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 SubmittersRCV000596500RCV001251126RCV001382429

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 SubmittersRCV000592435RCV000690561RCV005357781

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 SubmittersRCV000593505RCV001139299RCV001236809RCV004530660

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 SubmittersRCV000591158RCV001088982RCV004543321

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 SubmittersRCV000593689RCV001215044RCV004975694

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 SubmittersRCV000597963RCV001229580RCV004024727

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 SubmittersRCV000593353RCV003488714RCV005056257

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 SubmittersRCV000594685RCV002265813RCV005091556

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 SubmittersRCV000598427RCV001458290RCV004530682

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 SubmittersRCV000596159RCV001379563

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 SubmittersRCV000596211RCV002062037

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 SubmittersRCV000597601RCV001427061

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 SubmittersRCV000593120RCV001143205RCV001443506

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 SubmittersRCV000591425RCV001378598

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 SubmittersRCV000591413RCV001453350

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 SubmittersRCV000591515RCV001046089

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 SubmittersRCV000592598RCV001500171

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 SubmittersRCV000595928RCV000653574RCV002531095RCV004530714

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 SubmittersRCV000592712RCV002062094

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 SubmittersRCV000591728RCV001089197

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 SubmittersRCV003517238RCV000595087

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 SubmittersRCV000598494RCV002532651

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 SubmittersRCV000594964RCV002062099

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 SubmittersRCV000603475RCV000730477RCV002064339

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 SubmittersRCV000624324RCV002532835RCV004696960

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 SubmittersRCV000623661RCV005431811

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 SubmittersRCV001584511RCV000653532

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 SubmittersRCV000653659RCV000728765

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 SubmittersRCV000653581RCV001771906

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 SubmittersRCV000653610RCV003442004RCV004544906

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 SubmittersRCV001087191RCV000733408RCV004544907

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 SubmittersRCV000653503RCV003144449

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 SubmittersRCV000653584RCV003144452RCV004735723

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 SubmittersRCV000704553RCV000733182

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 SubmittersRCV000687061RCV002544767

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 SubmittersRCV000689566RCV001334959RCV002477546RCV005240471

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 SubmittersRCV000685322RCV001311585RCV003989581RCV005091997

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 SubmittersRCV000695563RCV003144530RCV004972868

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 SubmittersRCV003144563RCV000703514RCV004026631

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 SubmittersRCV000687395RCV003144492

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 SubmittersRCV000727582RCV001392673

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 SubmittersRCV000728002RCV001401856

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 SubmittersRCV000729358RCV000800070

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 SubmittersRCV000729510RCV004535822

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 SubmittersRCV000729693RCV001500123

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 SubmittersRCV000731679RCV002536468

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 SubmittersRCV000731682RCV001079075RCV004540062

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 SubmittersRCV000731684RCV001087684

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 SubmittersRCV000732424RCV001443059

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 SubmittersRCV000732608RCV002536484

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 SubmittersRCV000732685RCV001417617

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 SubmittersRCV000732901RCV002061015

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 SubmittersRCV000733179RCV001458196

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 SubmittersRCV000733406RCV001492671

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 SubmittersRCV000733603RCV001045162

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 SubmittersRCV000733703RCV002226739

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 SubmittersRCV000733880RCV001137048RCV001088023

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 SubmittersRCV000734803RCV001223965

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 SubmittersRCV000754719RCV000754726

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 SubmittersRCV000754727RCV005357981RCV001855854

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 SubmittersRCV002263970RCV003768432

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 SubmittersRCV000814797RCV003145180

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 SubmittersRCV000817534RCV003145193RCV004028917

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 SubmittersRCV000796157RCV003480831

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 SubmittersRCV000791667RCV003144586

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 SubmittersRCV000822068RCV003145207

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 SubmittersRCV000815789RCV003145186

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 SubmittersRCV004609529RCV000799455

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 SubmittersRCV000794099RCV003144592

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 SubmittersRCV000814216RCV003141832RCV001535442

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 SubmittersRCV002539231RCV004530855

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 SubmittersRCV001462119RCV005423073

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 SubmittersRCV001334961RCV001503213

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 SubmittersRCV000919963RCV001772168

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 SubmittersRCV000997846RCV001869400RCV005318568

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 SubmittersRCV001045340RCV003145278RCV002553120

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 SubmittersRCV001040992RCV001811626RCV003160269

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 SubmittersRCV001043673RCV003141959

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 SubmittersRCV001070881RCV005626324

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 SubmittersRCV001039727RCV001143418RCV004031115

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 SubmittersRCV001036278RCV003145260RCV004609580

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 SubmittersRCV001069741RCV003145338RCV004526799

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 SubmittersRCV001049375RCV001772252

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 SubmittersRCV001063991RCV001137047

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 SubmittersRCV001058980RCV003145317RCV004031860

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 SubmittersRCV001069392RCV004030709

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 SubmittersRCV001141356RCV001214405

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 SubmittersRCV001136628RCV001214406

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 SubmittersRCV001219858RCV001136629RCV001546616

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 SubmittersRCV001143312RCV001882441RCV003346334

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 SubmittersRCV001136742RCV001136743RCV001518746

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 SubmittersRCV001143416RCV001468388RCV003145361

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 SubmittersRCV001136849RCV001482340RCV004538357

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 SubmittersRCV001139089RCV001324206RCV001560752

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 SubmittersRCV001138884RCV005093617

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 SubmittersRCV001138978RCV005056927

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 SubmittersRCV001216797RCV005318657

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 SubmittersRCV001215778RCV003142156

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 SubmittersRCV001222949RCV004809536

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 SubmittersRCV001223089RCV005540321

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 SubmittersRCV001210189RCV003145382

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 SubmittersRCV001234767RCV001550829

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 SubmittersRCV001237578RCV003145457

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 SubmittersRCV001243590RCV002564068

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 SubmittersRCV001239318RCV003145459

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 SubmittersRCV001237717RCV003490147

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 SubmittersRCV001249380RCV001751514RCV002570398

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 SubmittersRCV001309228RCV003145547

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 SubmittersRCV001301051RCV001760350

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 SubmittersRCV001304296RCV002282512RCV005318719

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 SubmittersRCV001294736RCV002538442RCV003145512

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 SubmittersRCV001349361RCV001780263RCV004036581

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 SubmittersRCV001368510RCV003145632

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 SubmittersRCV001359136RCV001779158

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 SubmittersRCV001379668RCV001780298

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 SubmittersRCV001706917RCV005001234

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 SubmittersRCV001769234RCV002540492RCV004734263RCV004980669

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 SubmittersRCV001780844RCV003989709

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 SubmittersRCV002286861RCV002002095RCV005535167

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 SubmittersRCV001974932RCV003146390

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 SubmittersRCV001953388RCV003146395

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 SubmittersRCV001988635RCV005409860

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 SubmittersRCV001918053RCV003146326

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 SubmittersRCV001991396RCV005235628

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 SubmittersRCV001890062RCV003136241

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 SubmittersRCV001951458RCV004587275

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 SubmittersRCV001892104RCV004041170

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 SubmittersRCV001909362RCV002469428

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 SubmittersRCV002091297RCV002993481RCV005025697

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 SubmittersRCV002082607RCV003146505

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 SubmittersRCV003070849RCV004614319

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 SubmittersRCV003091538RCV004614351

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 SubmittersRCV003118893RCV003143583

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 SubmittersRCV002627325RCV003146596

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 SubmittersRCV002801168RCV004536412

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 SubmittersRCV002871020RCV005412443

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 SubmittersRCV002872835RCV004065975

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 SubmittersRCV002882247RCV004614249

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 SubmittersRCV002933706RCV003146688

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 SubmittersRCV002699085RCV005099109

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 SubmittersRCV003517454RCV003145763

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 SubmittersRCV003631293RCV003145772

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 SubmittersRCV003153080RCV004593223

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 SubmittersRCV003518383RCV005323479

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 SubmittersRCV003517697RCV004771544

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 SubmittersRCV004596013RCV004798988

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 SubmittersRCV004771665RCV005104969

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 SubmittersRCV005244518RCV005358262

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