List of variants in gene PKP2 reported as likely pathogenic for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 37

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HGVS	dbSNP	gnomAD frequency
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=)	rs727504509	0.00004
NM_001005242.3(PKP2):c.2390C>T (p.Ser797Phe)	rs794729099	0.00003
NM_001005242.3(PKP2):c.1379-1998C>T	rs151212477	0.00001
NM_001005242.3(PKP2):c.1711T>A (p.Ser571Thr)	rs768286281	0.00001
GRCh37/hg19 12p11.21(chr12:32936969-33065454)x1
NM_001005242.3(PKP2):c.1035-2A>G	rs2137920191
NM_001005242.3(PKP2):c.1139del (p.Glu380fs)	rs1592758957
NM_001005242.3(PKP2):c.1170+4_1170+7del	rs397516988
NM_001005242.3(PKP2):c.1177C>T (p.Gln393Ter)	rs786204393
NM_001005242.3(PKP2):c.1252del (p.Ala418fs)	rs1555145509
NM_001005242.3(PKP2):c.1292T>A (p.Leu431Ter)	rs143397927
NM_001005242.3(PKP2):c.1379-2047_1379-2043del	rs775995156
NM_001005242.3(PKP2):c.1388G>A (p.Trp463Ter)	rs2137831087
NM_001005242.3(PKP2):c.1415A>G (p.Lys472Arg)	rs749926313
NM_001005242.3(PKP2):c.144_165del (p.Gln49fs)	rs930283260
NM_001005242.3(PKP2):c.1542_1549del (p.Thr515fs)	rs1064796069
NM_001005242.3(PKP2):c.1556+2T>C	rs1592746270
NM_001005242.3(PKP2):c.155dup (p.Ser53fs)	rs958681660
NM_001005242.3(PKP2):c.1700T>G (p.Leu567Arg)	rs794729111
NM_001005242.3(PKP2):c.1717C>T (p.Gln573Ter)	rs201405287
NM_001005242.3(PKP2):c.1719G>C (p.Gln573His)	rs786205476
NM_001005242.3(PKP2):c.1723G>T (p.Glu575Ter)	rs794729135
NM_001005242.3(PKP2):c.1760delinsTCC (p.Tyr587fs)
NM_001005242.3(PKP2):c.1807_1829del (p.Cys603fs)	rs1555142963
NM_001005242.3(PKP2):c.190dup (p.Leu64fs)	rs762288961
NM_001005242.3(PKP2):c.1987C>T (p.Gln663Ter)	rs397517017
NM_001005242.3(PKP2):c.198del (p.Lys67fs)	rs1555149952
NM_001005242.3(PKP2):c.2013+1G>C	rs1057520726
NM_001005242.3(PKP2):c.2108del (p.Lys703fs)	rs1565574709
NM_001005242.3(PKP2):c.2142del (p.Asn715fs)	rs794729130
NM_001005242.3(PKP2):c.2168-1G>A	rs1060501184
NM_001005242.3(PKP2):c.2247del (p.Ser750fs)	rs2137708500
NM_001005242.3(PKP2):c.2357+5G>A	rs1555141020
NM_001005242.3(PKP2):c.2399T>C (p.Leu800Pro)	rs794729100
NM_001005242.3(PKP2):c.2422del (p.Glu808fs)	rs1353074803
NM_001005242.3(PKP2):c.326_336del (p.Asp109fs)	rs1064796268
NM_001005242.3(PKP2):c.986_992del (p.Ser329fs)	rs1373300155

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