ClinVar Miner

Variants in gene PKP2 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
854 100 0 49 42 0 4 84

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 12 0 0 0
likely pathogenic 12 0 4 0 0
uncertain significance 0 4 0 38 11
likely benign 0 0 38 0 37
benign 0 0 11 37 0

All variants with conflicting interpretations #

Total variants: 84
Download table as spreadsheet
HGVS dbSNP
NM_001005242.2(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val) rs143900944
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_001005242.3(PKP2):c.1116T>C (p.Ala372=) rs142742483
NM_001005242.3(PKP2):c.1171-10T>C rs200122872
NM_001005242.3(PKP2):c.1171-11T>C rs183414126
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473
NM_001005242.3(PKP2):c.1378+1G>C rs397516994
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872
NM_001005242.3(PKP2):c.1379-2054C>T rs144620127
NM_001005242.3(PKP2):c.1379-2067G>A rs138538072
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser) rs144536197
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala) rs397516999
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502
NM_001005242.3(PKP2):c.1509T>C (p.Asn503=) rs143782040
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825
NM_001005242.3(PKP2):c.1556+9A>G rs397517004
NM_001005242.3(PKP2):c.1557-13dup rs200009796
NM_001005242.3(PKP2):c.156G>A (p.Lys52=) rs201210997
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241
NM_001005242.3(PKP2):c.1689dup (p.Val564fs) rs397517010
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser) rs140852019
NM_001005242.3(PKP2):c.195C>T (p.Ala65=) rs397517014
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=) rs529442984
NM_001005242.3(PKP2):c.2014-1G>C rs193922674
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu) rs144018320
NM_001005242.3(PKP2):c.2037A>G (p.Thr679=) rs377504106
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val) rs551045165
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.234C>T (p.His78=) rs1591829350
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=) rs727504509
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398
NM_001005242.3(PKP2):c.306C>A (p.Ser102=) rs376613662
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser) rs62001015
NM_001005242.3(PKP2):c.725C>T (p.Thr242Met) rs201580443
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_001005242.3(PKP2):c.791C>T (p.Ala264Val) rs62001016
NM_001005242.3(PKP2):c.795G>T (p.Gly265=) rs375268778
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser) rs201944276
NM_001005242.3(PKP2):c.918C>T (p.Pro306=) rs368656084
NM_001005242.3(PKP2):c.921T>C (p.Ser307=)
NM_001005242.3(PKP2):c.939C>T (p.Ser313=) rs61729381
NM_001005242.3(PKP2):c.951G>A (p.Ala317=) rs61729382
NM_001005242.3(PKP2):c.972G>A (p.Ala324=) rs142636176
NM_004572.3(PKP2):c.1034+10C>T rs759397762
NM_004572.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297
NM_004572.3(PKP2):c.1170+4_1170+7del rs397516988
NM_004572.3(PKP2):c.1323G>T (p.Arg441=) rs3748278
NM_004572.3(PKP2):c.1419C>T (p.Gly473=) rs377424658
NM_004572.3(PKP2):c.1440_1444del (p.Asn480fs) rs775995156
NM_004572.3(PKP2):c.1449T>C (p.Thr483=) rs781397552
NM_004572.3(PKP2):c.1487T>A (p.Val496Asp) rs769899368
NM_004572.3(PKP2):c.1490G>A (p.Arg497Gln) rs781072699
NM_004572.3(PKP2):c.1511-2A>T rs1453983744
NM_004572.3(PKP2):c.1558A>G (p.Ile520Val) rs763749576
NM_004572.3(PKP2):c.1584G>A (p.Thr528=) rs727504098
NM_004572.3(PKP2):c.1596C>T (p.Ile532=) rs145387575
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs) rs1555144459
NM_004572.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548
NM_004572.3(PKP2):c.1974A>G (p.Gln658=) rs138901574
NM_004572.3(PKP2):c.2151G>A (p.Pro717=) rs147995773
NM_004572.3(PKP2):c.2299+1G>A rs794729116
NM_004572.3(PKP2):c.2300-19T>A rs527736735
NM_004572.3(PKP2):c.2300-20dup rs746936605
NM_004572.3(PKP2):c.2300-21_2300-20del rs200266270
NM_004572.3(PKP2):c.2489+5G>A rs1555141020
NM_004572.3(PKP2):c.2524G>A (p.Val842Ile) rs368633311
NM_004572.3(PKP2):c.253_256del (p.Glu85fs) rs786204388
NM_004572.3(PKP2):c.2615C>T (p.Thr872Ile) rs370599966
NM_004572.3(PKP2):c.387G>A (p.Gln129=) rs768974835
NM_004572.3(PKP2):c.406G>A (p.Val136Met) rs567795321
NM_004572.3(PKP2):c.789G>A (p.Thr263=) rs760432217
NM_004572.3(PKP2):c.837C>T (p.Pro279=) rs572938229
NM_004572.3(PKP2):c.837_838del (p.Val280fs) rs772220644
NM_004572.3(PKP2):c.953A>C (p.His318Pro) rs181098323

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