List of variants in gene COL2A1 reported as likely pathogenic by Blueprint Genetics

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: 24

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.1204G>T (p.Gly402Trp)	rs2136579085
NM_001844.5(COL2A1):c.1221+1G>A	rs1399741348
NM_001844.5(COL2A1):c.1309C>T (p.Arg437Trp)	rs917659377
NM_001844.5(COL2A1):c.1331G>T (p.Gly444Val)	rs1939463507
NM_001844.5(COL2A1):c.1528G>C (p.Gly510Arg)	rs1555167157
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)	rs121912884
NM_001844.5(COL2A1):c.1861G>A (p.Gly621Arg)	rs794727462
NM_001844.5(COL2A1):c.1907G>A (p.Gly636Asp)	rs2136559202
NM_001844.5(COL2A1):c.2033G>A (p.Gly678Glu)	rs2136554879
NM_001844.5(COL2A1):c.2193_2193+1inv
NM_001844.5(COL2A1):c.2276G>T (p.Gly759Val)	rs2136548974
NM_001844.5(COL2A1):c.2483G>C (p.Gly828Ala)	rs2136539832
NM_001844.5(COL2A1):c.2491G>A (p.Gly831Arg)	rs1064796660
NM_001844.5(COL2A1):c.2536G>A (p.Gly846Arg)	rs886042043
NM_001844.5(COL2A1):c.2563G>C (p.Gly855Arg)	rs1193507525
NM_001844.5(COL2A1):c.2572G>A (p.Gly858Ser)	rs2136537746
NM_001844.5(COL2A1):c.2789G>C (p.Gly930Ala)	rs1555165501
NM_001844.5(COL2A1):c.3113G>A (p.Gly1038Glu)	rs2136523042
NM_001844.5(COL2A1):c.3263GAG[1] (p.Gly1089del)	rs2136521036
NM_001844.5(COL2A1):c.3436G>T (p.Gly1146Cys)	rs2136516927
NM_001844.5(COL2A1):c.3508G>C (p.Gly1170Arg)	rs121912891
NM_001844.5(COL2A1):c.3606_3632del (p.Asn1204_Gly1212del)	rs2136512470
NM_001844.5(COL2A1):c.4229C>A (p.Ala1410Asp)	rs2136505279
NM_001844.5(COL2A1):c.4326_4330delinsTGTTTCT (p.Gly1443fs)	rs2136502573

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.