ClinVar Miner

List of variants reported as pathogenic for Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
NM_004370.6(COL12A1):c.3310C>T (p.Arg1104Ter) rs1329022055
NM_004370.6(COL12A1):c.3758T>G (p.Leu1253Ter) rs1582139761
NM_004370.6(COL12A1):c.3994del (p.Ala1332fs) rs1554182935
NM_004370.6(COL12A1):c.4172dup (p.Leu1391fs) rs1582133194
NM_004370.6(COL12A1):c.4177del (p.Ile1393fs)
NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter)
NM_004370.6(COL12A1):c.4300C>T (p.Arg1434Ter) rs1562223444
NM_004370.6(COL12A1):c.4414dup (p.Thr1472fs)
NM_004370.6(COL12A1):c.4738del (p.Ser1580fs) rs1471550984
NM_004370.6(COL12A1):c.6125C>A (p.Ser2042Ter)
NM_004370.6(COL12A1):c.6612T>A (p.Tyr2204Ter)
NM_004370.6(COL12A1):c.7925_7926del (p.Thr2642fs) rs1582068925
NM_004370.6(COL12A1):c.8383G>T (p.Gly2795Ter)
NM_004370.6(COL12A1):c.8713C>T (p.Arg2905Ter) rs371399251

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.