Variants in gene COL6A2 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status:		Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status:		Submission 2 (pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.1970-9G>A	rs747900252	0.00008
NM_001849.4(COL6A2):c.1396-1G>A	rs1331260332	0.00001
NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn)	rs387906610	0.00001
NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs)	rs886043164
NM_001849.4(COL6A2):c.1458+1G>A	rs886044526
NM_001849.4(COL6A2):c.1572+1G>A	rs1057520717
NM_001849.4(COL6A2):c.1770+1del	rs886044215
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn)	rs267606750
NM_001849.4(COL6A2):c.2096G>A (p.Gly699Asp)	rs863224861
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)	rs267606747
NM_001849.4(COL6A2):c.803G>A (p.Gly268Asp)	rs397515333
NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu)	rs886044088
NM_001849.4(COL6A2):c.855+1G>C	rs1057517988

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.