Variants in gene PKP2 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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro)	rs144601090	0.00011
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=)	rs727504509	0.00004
NM_001005242.3(PKP2):c.1379-1998C>T	rs151212477	0.00001
NM_001005242.3(PKP2):c.1772G>A (p.Arg591Gln)	rs755076586	0.00001
NM_001005242.3(PKP2):c.1079T>C (p.Leu360Pro)	rs730880180
NM_001005242.3(PKP2):c.1170+4_1170+7del	rs397516988
NM_001005242.3(PKP2):c.1379-2047_1379-2043del	rs775995156
NM_001005242.3(PKP2):c.1415A>G (p.Lys472Arg)	rs749926313
NM_001005242.3(PKP2):c.1709T>C (p.Leu570Pro)
NM_001005242.3(PKP2):c.2261_2269del (p.Thr754_Asn756del)	rs1270283587
NM_001005242.3(PKP2):c.2357+5G>A	rs1555141020

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.