ClinVar Miner

List of variants in gene COL2A1 reported as likely pathogenic for Pierre Robin syndrome associated with collagen disease

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP
NM_001844.4(COL2A1):c.156C>A (p.Cys52Ter) rs1246771678
NM_001844.4(COL2A1):c.1799G>T (p.Gly600Val) rs794727438
NM_001844.4(COL2A1):c.2049+1G>A rs1555166658
NM_001844.4(COL2A1):c.2355+2del rs1555166295
NM_001844.4(COL2A1):c.3275G>A (p.Gly1092Asp) rs794727684
NM_001844.4(COL2A1):c.609+4delA rs1555168965
NM_001844.4(COL2A1):c.971delG (p.Gly324Valfs) rs1555168309
NM_001844.5(COL2A1):c.1122+1G>C
NM_001844.5(COL2A1):c.3136C>T (p.Pro1046Ser)

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.