ClinVar Miner

List of variants in gene COL6A1 reported as uncertain significance for Bethlem myopathy

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 221
Download table as spreadsheet
HGVS dbSNP
NC_000021.9:g.(?_45981831)_(46004033_?)dup
NM_001848.2(COL6A1):c.1013G>A (p.Gly338Glu) rs794727121
NM_001848.2(COL6A1):c.1030G>C (p.Gly344Arg) rs1569518250
NM_001848.2(COL6A1):c.1043C>T (p.Ser348Leu) rs142882745
NM_001848.2(COL6A1):c.1056+5G>A rs886044511
NM_001848.2(COL6A1):c.1122C>T (p.Gly374=) rs373535692
NM_001848.2(COL6A1):c.1160G>A (p.Ser387Asn) rs756884829
NM_001848.2(COL6A1):c.1182+5G>C rs1473206283
NM_001848.2(COL6A1):c.1190C>T (p.Pro397Leu) rs746386684
NM_001848.2(COL6A1):c.1231G>A (p.Asp411Asn) rs575394639
NM_001848.2(COL6A1):c.1234G>A (p.Glu412Lys) rs751779784
NM_001848.2(COL6A1):c.1255G>A (p.Gly419Ser) rs745485695
NM_001848.2(COL6A1):c.1271G>A (p.Arg424Gln) rs761729281
NM_001848.2(COL6A1):c.1294C>A (p.Pro432Thr) rs1436272876
NM_001848.2(COL6A1):c.1315C>T (p.Arg439Trp) rs368239109
NM_001848.2(COL6A1):c.1342G>A (p.Ala448Thr) rs886057153
NM_001848.2(COL6A1):c.1378G>A (p.Val460Ile) rs375452881
NM_001848.2(COL6A1):c.1378G>T (p.Val460Phe) rs375452881
NM_001848.2(COL6A1):c.1379T>C (p.Val460Ala) rs140735590
NM_001848.2(COL6A1):c.1397C>T (p.Pro466Leu) rs746962124
NM_001848.2(COL6A1):c.1399-3C>T rs200095847
NM_001848.2(COL6A1):c.1437C>T (p.Gly479=) rs762625409
NM_001848.2(COL6A1):c.1447C>T (p.Pro483Ser) rs756017426
NM_001848.2(COL6A1):c.1459G>A (p.Glu487Lys) rs779320527
NM_001848.2(COL6A1):c.14G>A (p.Arg5His) rs1556423460
NM_001848.2(COL6A1):c.1508G>A (p.Gly503Glu) rs1556428597
NM_001848.2(COL6A1):c.1540G>A (p.Ala514Thr) rs760815168
NM_001848.2(COL6A1):c.1553C>A (p.Thr518Asn) rs201935658
NM_001848.2(COL6A1):c.1555G>A (p.Glu519Lys) rs754384963
NM_001848.2(COL6A1):c.1575C>T (p.Pro525=) rs781031251
NM_001848.2(COL6A1):c.1603G>A (p.Gly535Arg) rs764556767
NM_001848.2(COL6A1):c.1619A>G (p.Lys540Arg) rs1603593300
NM_001848.2(COL6A1):c.1666G>A (p.Gly556Arg) rs886043521
NM_001848.2(COL6A1):c.1681G>A (p.Asp561Asn) rs140517685
NM_001848.2(COL6A1):c.1684A>G (p.Ile562Val) rs374315921
NM_001848.2(COL6A1):c.1712A>C (p.Lys571Thr) rs751040647
NM_001848.2(COL6A1):c.1729G>A (p.Glu577Lys) rs552634753
NM_001848.2(COL6A1):c.1732G>A (p.Gly578Ser) rs778884385
NM_001848.2(COL6A1):c.1742G>C (p.Gly581Ala) rs1462355816
NM_001848.2(COL6A1):c.1745C>T (p.Pro582Leu) rs766478019
NM_001848.2(COL6A1):c.1782C>T (p.Cys594=) rs745847824
NM_001848.2(COL6A1):c.1783G>A (p.Glu595Lys) rs367650141
NM_001848.2(COL6A1):c.1825T>C (p.Cys609Arg) rs763495943
NM_001848.2(COL6A1):c.1829A>C (p.Lys610Thr) rs768906709
NM_001848.2(COL6A1):c.1837C>A (p.Pro613Thr) rs200770631
NM_001848.2(COL6A1):c.1848_1850delCCT rs1085307560
NM_001848.2(COL6A1):c.1855G>A (p.Val619Met) rs150938324
NM_001848.2(COL6A1):c.185T>G (p.Val62Gly) rs1603589342
NM_001848.2(COL6A1):c.1877T>C (p.Ile626Thr) rs781626943
NM_001848.2(COL6A1):c.1908C>G (p.Asp636Glu) rs886042572
NM_001848.2(COL6A1):c.1930C>T (p.Arg644Trp) rs146622557
NM_001848.2(COL6A1):c.1931G>A (p.Arg644Gln) rs398123634
NM_001848.2(COL6A1):c.1945G>A (p.Glu649Lys) rs764129993
NM_001848.2(COL6A1):c.1959C>G (p.Phe653Leu) rs112104768
NM_001848.2(COL6A1):c.1979C>T (p.Ala660Val) rs748997622
NM_001848.2(COL6A1):c.1982G>A (p.Gly661Asp) rs771702139
NM_001848.2(COL6A1):c.2009T>C (p.Met670Thr) rs776241591
NM_001848.2(COL6A1):c.2021T>G (p.Val674Gly) rs1255698056
NM_001848.2(COL6A1):c.202C>T (p.Arg68Cys) rs137964147
NM_001848.2(COL6A1):c.2044C>T (p.Arg682Trp) rs777378283
NM_001848.2(COL6A1):c.2045G>A (p.Arg682Gln) rs148962954
NM_001848.2(COL6A1):c.2050G>A (p.Val684Met) rs138312247
NM_001848.2(COL6A1):c.2129C>T (p.Thr710Met) rs765641686
NM_001848.2(COL6A1):c.2132G>A (p.Arg711Gln) rs766956281
NM_001848.2(COL6A1):c.2147C>T (p.Pro716Leu) rs755589190
NM_001848.2(COL6A1):c.2191C>T (p.Arg731Cys) rs398123635
NM_001848.2(COL6A1):c.2200A>G (p.Thr734Ala) rs562898957
NM_001848.2(COL6A1):c.2343G>A (p.Gln781=) rs755487987
NM_001848.2(COL6A1):c.2434+4C>T rs202147670
NM_001848.2(COL6A1):c.2437A>G (p.Lys813Glu) rs936641232
NM_001848.2(COL6A1):c.2464+1G>A rs113290209
NM_001848.2(COL6A1):c.2481G>A (p.Pro827=) rs772673965
NM_001848.2(COL6A1):c.2518G>A (p.Val840Met) rs751124572
NM_001848.2(COL6A1):c.2554G>C (p.Ala852Pro) rs748327110
NM_001848.2(COL6A1):c.2561G>A (p.Arg854His) rs200732314
NM_001848.2(COL6A1):c.2569G>A (p.Glu857Lys) rs570688674
NM_001848.2(COL6A1):c.2573G>A (p.Arg858His) rs537763400
NM_001848.2(COL6A1):c.2603C>T (p.Ala868Val) rs565089447
NM_001848.2(COL6A1):c.2611G>A (p.Val871Met) rs374685631
NM_001848.2(COL6A1):c.2614C>T (p.Arg872Trp) rs368561027
NM_001848.2(COL6A1):c.2615G>A (p.Arg872Gln) rs377586358
NM_001848.2(COL6A1):c.2642C>T (p.Thr881Met) rs150432347
NM_001848.2(COL6A1):c.2653C>T (p.Arg885Cys) rs746298580
NM_001848.2(COL6A1):c.2662C>T (p.Arg888Trp) rs368307185
NM_001848.2(COL6A1):c.2663G>A (p.Arg888Gln) rs138351067
NM_001848.2(COL6A1):c.269C>T (p.Ala90Val) rs766517983
NM_001848.2(COL6A1):c.2705G>A (p.Ser902Asn) rs757422397
NM_001848.2(COL6A1):c.2713G>A (p.Asp905Asn) rs149331149
NM_001848.2(COL6A1):c.2743G>A (p.Asp915Asn) rs763910773
NM_001848.2(COL6A1):c.2746G>A (p.Val916Ile) rs563043611
NM_001848.2(COL6A1):c.2752G>A (p.Asp918Asn) rs750512162
NM_001848.2(COL6A1):c.2768T>G (p.Val923Gly) rs755340450
NM_001848.2(COL6A1):c.2783G>T (p.Arg928Leu) rs144671871
NM_001848.2(COL6A1):c.2784C>T (p.Arg928=) rs775569169
NM_001848.2(COL6A1):c.2785G>A (p.Glu929Lys) rs145846228
NM_001848.2(COL6A1):c.2800G>A (p.Ala934Thr) rs147716407
NM_001848.2(COL6A1):c.2803G>A (p.Ala935Thr) rs766416007
NM_001848.2(COL6A1):c.2821C>T (p.Leu941Phe) rs147882179
NM_001848.2(COL6A1):c.2852C>T (p.Thr951Met) rs371111712
NM_001848.2(COL6A1):c.2857G>A (p.Ala953Thr) rs150378645
NM_001848.2(COL6A1):c.2857G>T (p.Ala953Ser) rs150378645
NM_001848.2(COL6A1):c.285C>G (p.Asp95Glu) rs145811554
NM_001848.2(COL6A1):c.2863A>G (p.Ile955Val) rs373070436
NM_001848.2(COL6A1):c.286G>A (p.Glu96Lys) rs759023976
NM_001848.2(COL6A1):c.2873C>A (p.Ala958Asp) rs763228065
NM_001848.2(COL6A1):c.2875G>A (p.Val959Met) rs200959957
NM_001848.2(COL6A1):c.2890C>T (p.Arg964Trp) rs375007666
NM_001848.2(COL6A1):c.2899A>G (p.Ile967Val) rs777671647
NM_001848.2(COL6A1):c.2911G>A (p.Val971Met) rs769795690
NM_001848.2(COL6A1):c.2920G>A (p.Val974Met) rs751999785
NM_001848.2(COL6A1):c.2941C>A (p.Pro981Thr) rs1569519253
NM_001848.2(COL6A1):c.2950C>T (p.Arg984Cys) rs568039462
NM_001848.2(COL6A1):c.2953G>A (p.Val985Ile) rs781394145
NM_001848.2(COL6A1):c.2963C>G (p.Thr988Ser) rs746046225
NM_001848.2(COL6A1):c.2996G>A (p.Gly999Asp) rs1603595132
NM_001848.2(COL6A1):c.3040C>T (p.Arg1014Cys) rs376764211
NM_001848.2(COL6A1):c.3041G>A (p.Arg1014His) rs369764291
NM_001848.2(COL6A1):c.3056A>G (p.Gln1019Arg) rs751518356
NM_001848.2(COL6A1):c.325G>A (p.Gly109Ser) rs368580280
NM_001848.2(COL6A1):c.331G>A (p.Asp111Asn) rs1309822720
NM_001848.2(COL6A1):c.334G>A (p.Ala112Thr) rs568865339
NM_001848.2(COL6A1):c.344G>A (p.Ser115Asn) rs372627181
NM_001848.2(COL6A1):c.349G>A (p.Val117Met) rs150686304
NM_001848.2(COL6A1):c.355G>A (p.Ala119Thr) rs149392243
NM_001848.2(COL6A1):c.356C>T (p.Ala119Val) rs571641824
NM_001848.2(COL6A1):c.375G>C (p.Lys125Asn) rs1603589594
NM_001848.2(COL6A1):c.377G>T (p.Gly126Val) rs1300015385
NM_001848.2(COL6A1):c.509G>C (p.Gly170Ala) rs1309872535
NM_001848.2(COL6A1):c.554A>G (p.Lys185Arg) rs754667407
NM_001848.2(COL6A1):c.595C>T (p.Arg199Cys) rs749628937
NM_001848.2(COL6A1):c.596G>A (p.Arg199His) rs201213605
NM_001848.2(COL6A1):c.5G>A (p.Arg2Lys) rs1305504243
NM_001848.2(COL6A1):c.621C>A (p.His207Gln) rs866987981
NM_001848.2(COL6A1):c.623C>T (p.Thr208Met) rs372199631
NM_001848.2(COL6A1):c.631C>G (p.Arg211Gly) rs375217284
NM_001848.2(COL6A1):c.631C>T (p.Arg211Cys) rs375217284
NM_001848.2(COL6A1):c.641C>T (p.Thr214Met) rs369123247
NM_001848.2(COL6A1):c.665G>A (p.Arg222His) rs780638665
NM_001848.2(COL6A1):c.667G>A (p.Asp223Asn) rs199842980
NM_001848.2(COL6A1):c.680C>T (p.Ala227Val) rs770597799
NM_001848.2(COL6A1):c.697G>A (p.Asp233Asn) rs1259945808
NM_001848.2(COL6A1):c.717+4A>G rs762867111
NM_001848.2(COL6A1):c.750C>A (p.Phe250Leu) rs748153811
NM_001848.2(COL6A1):c.751G>A (p.Glu251Lys) rs145849970
NM_001848.2(COL6A1):c.763G>A (p.Ala255Thr) rs145473829
NM_001848.2(COL6A1):c.789C>T (p.Gly263=) rs148364156
NM_001848.2(COL6A1):c.85G>A (p.Val29Met) rs766057159
NM_001848.2(COL6A1):c.880C>G (p.Pro294Ala) rs141572895
NM_001848.2(COL6A1):c.903+4C>T rs200380846
NM_001848.2(COL6A1):c.903+5G>A rs759468291
NM_001848.2(COL6A1):c.931-6C>A rs778657187
NM_001848.2(COL6A1):c.956A>G (p.Lys319Arg) rs794727059
NM_001848.2(COL6A1):c.957+6C>G rs374926748
NM_001848.2(COL6A1):c.957G>A (p.Lys319=) rs1057520625
NM_001848.2(COL6A1):c.98-6G>A rs886042599
NM_001848.3(COL6A1):c.1002+5_1002+6insCCGGGGAGGGA
NM_001848.3(COL6A1):c.101G>T (p.Cys34Phe)
NM_001848.3(COL6A1):c.1095_1096inv (p.Ala366Thr)
NM_001848.3(COL6A1):c.1112G>A (p.Gly371Glu)
NM_001848.3(COL6A1):c.1145C>T (p.Ala382Val)
NM_001848.3(COL6A1):c.1236+3G>A
NM_001848.3(COL6A1):c.1276G>A (p.Gly426Ser)
NM_001848.3(COL6A1):c.1297C>T (p.Arg433Trp)
NM_001848.3(COL6A1):c.1489G>A (p.Gly497Arg)
NM_001848.3(COL6A1):c.1534G>A (p.Gly512Ser)
NM_001848.3(COL6A1):c.1570T>C (p.Phe524Leu)
NM_001848.3(COL6A1):c.1575+2dup
NM_001848.3(COL6A1):c.1575+6T>C
NM_001848.3(COL6A1):c.1580A>G (p.Tyr527Cys)
NM_001848.3(COL6A1):c.1589A>G (p.Asn530Ser)
NM_001848.3(COL6A1):c.1612-3C>T
NM_001848.3(COL6A1):c.1657G>A (p.Gly553Arg)
NM_001848.3(COL6A1):c.1672G>A (p.Asp558Asn)
NM_001848.3(COL6A1):c.1675-10T>A
NM_001848.3(COL6A1):c.1685T>C (p.Ile562Thr)
NM_001848.3(COL6A1):c.1718A>G (p.Tyr573Cys)
NM_001848.3(COL6A1):c.1721G>A (p.Arg574Gln)
NM_001848.3(COL6A1):c.1739A>G (p.Gln580Arg)
NM_001848.3(COL6A1):c.1740+3G>C
NM_001848.3(COL6A1):c.1760G>A (p.Gly587Glu)
NM_001848.3(COL6A1):c.1777-3C>T
NM_001848.3(COL6A1):c.1790T>G (p.Leu597Trp)
NM_001848.3(COL6A1):c.1940G>A (p.Arg647Gln)
NM_001848.3(COL6A1):c.1957-10G>A
NM_001848.3(COL6A1):c.1982G>C (p.Gly661Ala)
NM_001848.3(COL6A1):c.2030G>T (p.Arg677Leu)
NM_001848.3(COL6A1):c.2062A>C (p.Lys688Gln)
NM_001848.3(COL6A1):c.2242G>A (p.Gly748Ser)
NM_001848.3(COL6A1):c.2394G>C (p.Glu798Asp)
NM_001848.3(COL6A1):c.2419G>A (p.Ala807Thr)
NM_001848.3(COL6A1):c.2430del (p.Ile809_Cys810insTer)
NM_001848.3(COL6A1):c.2698C>A (p.Leu900Met)
NM_001848.3(COL6A1):c.2773C>T (p.Arg925Cys)
NM_001848.3(COL6A1):c.2885C>G (p.Ala962Gly)
NM_001848.3(COL6A1):c.2896G>A (p.Gly966Ser)
NM_001848.3(COL6A1):c.2911G>T (p.Val971Leu)
NM_001848.3(COL6A1):c.2951G>A (p.Arg984His)
NM_001848.3(COL6A1):c.2965G>A (p.Gly989Ser)
NM_001848.3(COL6A1):c.3043G>A (p.Gly1015Ser)
NM_001848.3(COL6A1):c.314G>T (p.Arg105Leu)
NM_001848.3(COL6A1):c.335C>T (p.Ala112Val)
NM_001848.3(COL6A1):c.340A>G (p.Lys114Glu)
NM_001848.3(COL6A1):c.378C>T (p.Gly126=)
NM_001848.3(COL6A1):c.475G>A (p.Gly159Arg)
NM_001848.3(COL6A1):c.497A>G (p.Lys166Arg)
NM_001848.3(COL6A1):c.508G>C (p.Gly170Arg)
NM_001848.3(COL6A1):c.532G>A (p.Glu178Lys)
NM_001848.3(COL6A1):c.535G>A (p.Ala179Thr)
NM_001848.3(COL6A1):c.589-3C>T
NM_001848.3(COL6A1):c.650A>T (p.Asp217Val)
NM_001848.3(COL6A1):c.665G>T (p.Arg222Leu)
NM_001848.3(COL6A1):c.68C>T (p.Pro23Leu)
NM_001848.3(COL6A1):c.704T>C (p.Ile235Thr)
NM_001848.3(COL6A1):c.706G>A (p.Val236Met)
NM_001848.3(COL6A1):c.739-6C>G
NM_001848.3(COL6A1):c.785G>A (p.Arg262Gln)
NM_001848.3(COL6A1):c.821C>G (p.Pro274Arg)
NM_001848.3(COL6A1):c.821C>T (p.Pro274Leu) rs201093313
NM_001848.3(COL6A1):c.836A>G (p.Glu279Gly)
NM_001848.3(COL6A1):c.973C>T (p.Arg325Cys)
NM_001848.3(COL6A1):c.994G>A (p.Gly332Ser)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.