List of variants in gene COL2A1 reported as likely pathogenic by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.1115G>A (p.Gly372Glu)	rs794727202
NM_001844.5(COL2A1):c.1340G>A (p.Gly447Asp)	rs886043561
NM_001844.5(COL2A1):c.1717G>C (p.Gly573Arg)	rs886042741
NM_001844.5(COL2A1):c.1771G>C (p.Gly591Arg)	rs886043712
NM_001844.5(COL2A1):c.1799G>T (p.Gly600Val)	rs794727438
NM_001844.5(COL2A1):c.1861G>A (p.Gly621Arg)	rs794727462
NM_001844.5(COL2A1):c.2159G>A (p.Gly720Asp)	rs1555166528
NM_001844.5(COL2A1):c.2355+5G>A	rs1555166294
NM_001844.5(COL2A1):c.2428G>T (p.Gly810Cys)	rs794727596
NM_001844.5(COL2A1):c.2490_2491delinsAA (p.Gly831Arg)	rs886044702
NM_001844.5(COL2A1):c.2600G>T (p.Gly867Val)	rs886042849
NM_001844.5(COL2A1):c.2788G>C (p.Gly930Arg)	rs886043540
NM_001844.5(COL2A1):c.3149G>A (p.Gly1050Asp)	rs1555165242
NM_001844.5(COL2A1):c.3275G>A (p.Gly1092Asp)	rs794727684
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu)	rs886043356
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)	rs121912870

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.