Variants in gene CASR with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status:		Submission 1 (likely 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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000388.4(CASR):c.2303G>T (p.Gly768Val)	rs201858689	0.00003
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg)	rs1064794291	0.00001
NM_000388.4(CASR):c.101T>C (p.Leu34Pro)	rs1559955362
NM_000388.4(CASR):c.1250C>G (p.Ser417Cys)	rs1576859379
NM_000388.4(CASR):c.1901T>C (p.Phe634Ser)	rs2107649591
NM_000388.4(CASR):c.2489G>A (p.Gly830Asp)	rs193922436
NM_000388.4(CASR):c.372C>A (p.Asn124Lys)	rs757571398
NM_000388.4(CASR):c.61G>A (p.Gly21Arg)	rs1064794290

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.