Variants in gene CTNS 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: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004937.3(CTNS):c.444G>A (p.Met148Ile)	rs199977728	0.00023
NM_004937.3(CTNS):c.635C>T (p.Ala212Val)	rs776658046	0.00004
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr)	rs768600603	0.00001
NM_004937.3(CTNS):c.1036_1047del (p.Asp346_Phe349del)
NM_004937.3(CTNS):c.225+5_225+8del	rs1555561048
NM_004937.3(CTNS):c.73A>T (p.Ser25Cys)	rs777367316

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.