Variants in gene MC4R with conflicting interpretations "pathogenic" and "uncertain significance"

Submission 1 (pathogenic) minimum review status:		Submission 1 (pathogenic) method:
Submission 2 (uncertain significance) minimum review status:		Submission 2 (uncertain significance) 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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr)	rs121913563	0.00031
NM_005912.3(MC4R):c.508A>G (p.Ile170Val)	rs121913560	0.00016
NM_005912.3(MC4R):c.757G>A (p.Val253Ile)	rs187152753	0.00014
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn)	rs79783591	0.00011
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu)	rs13447331	0.00008
NM_005912.3(MC4R):c.896C>A (p.Pro299His)	rs52804924	0.00004
NM_005912.3(MC4R):c.161T>C (p.Leu54Pro)	rs376439188	0.00001
NM_005912.3(MC4R):c.496G>A (p.Val166Ile)	rs942758928	0.00001
NM_005912.3(MC4R):c.821A>G (p.Asn274Ser)	rs121913561	0.00001
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile)	rs1555691402
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer)	rs770293321

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.