ClinVar Miner

List of variants reported as likely pathogenic for Bethlem myopathy by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP
NC_000002.12:g.(?_237358501)_(237361194_?)del
NM_001848.2(COL6A1):c.1021G>T (p.Gly341Cys) rs886043321
NM_001848.2(COL6A1):c.1398+2T>G rs1569518481
NM_001848.2(COL6A1):c.1575+1G>A rs1002726737
NM_001848.2(COL6A1):c.1576-1G>A rs112814811
NM_001848.2(COL6A1):c.1576-2_1576-1del rs1569518725
NM_001848.2(COL6A1):c.1823-1G>T rs1569519030
NM_001848.2(COL6A1):c.788G>T (p.Gly263Val) rs886043351
NM_001848.2(COL6A1):c.824G>T (p.Gly275Val) rs1556425468
NM_001848.2(COL6A1):c.846_854del (p.Glu282_Gly284del) rs1556425474
NM_001848.2(COL6A1):c.859-1G>C rs1556425531
NM_001848.2(COL6A1):c.957_957+7del rs1556425687
NM_001848.3(COL6A1):c.2066+2T>C
NM_001848.3(COL6A1):c.738+1G>T
NM_001848.3(COL6A1):c.805-2A>C
NM_001848.3(COL6A1):c.805-2A>T
NM_001848.3(COL6A1):c.842_858+7del
NM_001848.3(COL6A1):c.860G>A (p.Gly287Glu)
NM_001848.3(COL6A1):c.878G>T (p.Gly293Val)
NM_001848.3(COL6A1):c.98-2_103del rs1556423703
NM_001849.3(COL6A2):c.1000-13_1030del rs1555873353
NM_001849.3(COL6A2):c.1000-2A>C rs1555873356
NM_001849.3(COL6A2):c.1054-2A>G rs886044023
NM_001849.3(COL6A2):c.1180-2A>G rs1601232289
NM_001849.3(COL6A2):c.2329T>C (p.Cys777Arg) rs267606747
NM_001849.3(COL6A2):c.2572C>T (p.Gln858Ter) rs1555877252
NM_001849.3(COL6A2):c.735+9_784del
NM_001849.3(COL6A2):c.801+1G>A rs794727715
NM_001849.3(COL6A2):c.839G>A (p.Gly280Asp) rs1568928804
NM_001849.3(COL6A2):c.866G>T (p.Gly289Val) rs886043554
NM_001849.3(COL6A2):c.911G>T (p.Gly304Val) rs727502832
NM_001849.3(COL6A2):c.955-3_955-1delinsAA rs1568929639
NM_001849.4(COL6A2):c.1179+1G>A
NM_001849.4(COL6A2):c.543_735+396del
NM_001849.4(COL6A2):c.801G>A (p.Lys267=)
NM_001849.4(COL6A2):c.803G>T (p.Gly268Val)
NM_001849.4(COL6A2):c.820G>A (p.Gly274Ser)
NM_001849.4(COL6A2):c.848G>T (p.Gly283Val)
NM_001849.4(COL6A2):c.999+9_1053+32del
NM_004369.3(COL6A3):c.1897+1G>T rs1230578718
NM_004369.3(COL6A3):c.5838+1G>T rs1559234260
NM_004369.3(COL6A3):c.6158G>T (p.Gly2053Val) rs886041329
NM_004369.3(COL6A3):c.6212G>A (p.Gly2071Asp) rs886043737
NM_004369.3(COL6A3):c.6308A>G (p.Lys2103Arg) rs1574975203
NM_004369.3(COL6A3):c.6853G>A (p.Gly2285Arg) rs1268762655
NM_004369.4(COL6A3):c.6309_6309+1del
NM_004369.4(COL6A3):c.6310-28_6325del rs1553553267
NM_004369.4(COL6A3):c.6355-2dup
NM_004370.6(COL12A1):c.395-2A>C rs1562310723
NM_004370.6(COL12A1):c.5230+1G>A rs1274606112
NM_004370.6(COL12A1):c.8179-2A>G
NM_004370.6(COL12A1):c.8319+1G>C
NM_004370.6(COL12A1):c.8415+1G>C

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