PKP1 — 392 ClinVar variants

All ClinVar germline PKP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 152 flagged for review →

7 Pathogenic · 2 Likely pathogenic · 10 Conflicting · 90 Benign · 4 Benign/Likely benign · 64 Likely benign · 215 Uncertain significance

Full PKP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 152

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 5

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

PKP1 p.Ala483Thr Conflicting Single submitter
Inborn genetic diseases
PKP1 p.Arg445Cys Conflicting Single submitter
Inborn genetic diseases
PKP1 p.Arg581His Conflicting Single submitter
epidermolysis bullosa simplex due to plakophilin deficiency
PKP1 p.Leu159Ile Conflicting Single submitter
epidermolysis bullosa simplex due to plakophilin deficiency
PKP1 p.Tyr88Cys Conflicting Single submitter
epidermolysis bullosa simplex due to plakophilin deficiency

Predictors lean, ClinVar uncertain 114

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

PKP1 p.Ala480Thr Uncertain significance Multiple submitters
epidermolysis bullosa simplex due to plakophilin deficiency
PKP1 p.Arg332His Uncertain significance Multiple submitters
Inborn genetic diseases
PKP1 p.Arg378Cys Uncertain significance Multiple submitters
epidermolysis bullosa simplex due to plakophilin deficiency
PKP1 p.Arg420Cys Uncertain significance Multiple submitters
epidermolysis bullosa simplex due to plakophilin deficiency
PKP1 p.Arg445His Uncertain significance Multiple submitters
PKP1 p.Arg645Lys Uncertain significance Multiple submitters
Inborn genetic diseases
PKP1 p.Asn503Asp Uncertain significance Multiple submitters
Inborn genetic diseases
PKP1 p.Leu295Val Uncertain significance Multiple submitters
Inborn genetic diseases
PKP1 p.Met46Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PKP1 p.Met70Val Uncertain significance Multiple submitters
epidermolysis bullosa simplex due to plakophilin deficiency
PKP1 p.Thr620Ile Uncertain significance Multiple submitters
epidermolysis bullosa simplex due to plakophilin deficiency
PKP1 p.Ala231Ser Uncertain significance Single submitter
PKP1 p.Ala266Val Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Ala307Ser Uncertain significance Single submitter
epidermolysis bullosa simplex due to plakophilin deficiency
PKP1 p.Ala308Pro Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Ala467Val Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Ala546Thr Uncertain significance Single submitter
PKP1 p.Ala595Gly Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Ala595Ser Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Ala640Ser Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Ala680Thr Uncertain significance Single submitter
PKP1 p.Ala716Thr Uncertain significance Single submitter
PKP1 p.Arg115Lys Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Arg128Gln Uncertain significance Single submitter
epidermolysis bullosa simplex due to plakophilin deficiency
PKP1 p.Arg168His Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Arg202Cys Uncertain significance Single submitter
PKP1 p.Arg297Gly Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Arg297His Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Arg312His Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Arg326Gln Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Arg326Trp Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Arg332Cys Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Arg378His Uncertain significance Single submitter
PKP1 p.Arg424Cys Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Arg464His Uncertain significance Single submitter
PKP1 p.Arg472Cys Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Arg474Cys Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Arg474His Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Arg481Cys Uncertain significance Single submitter
epidermolysis bullosa simplex due to plakophilin deficiency
PKP1 p.Arg672Gln Uncertain significance Single submitter
epidermolysis bullosa simplex due to plakophilin deficiency
PKP1 p.Arg684Gln Uncertain significance Single submitter
epidermolysis bullosa simplex due to plakophilin deficiency
PKP1 p.Arg707Lys Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Asn20Ser Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Asn453Ser Uncertain significance Single submitter
epidermolysis bullosa simplex due to plakophilin deficiency
PKP1 p.Asn482Lys Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Asn515Lys Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Asp388Asn Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Asp417Glu Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Asp498Asn Uncertain significance Single submitter
PKP1 p.Asp589Glu Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Cys273Tyr Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Cys387Phe Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Cys387Tyr Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Gln275Leu Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Gln438Arg Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Gln52Lys Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Glu345Lys Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Glu477Gln Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Glu681Asp Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Gly139Ser Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Gly192Arg Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Gly309Glu Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Gly342Arg Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Gly428Glu Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Gly491Cys Uncertain significance Single submitter
PKP1 p.Gly491Val Uncertain significance Single submitter
PKP1 p.Gly698Cys Uncertain significance Single submitter
PKP1 p.His129Arg Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.His3Arg Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.His459Tyr Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Ile144Leu Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Ile144Val Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Ile264Leu Uncertain significance Single submitter
epidermolysis bullosa simplex due to plakophilin deficiency
PKP1 p.Ile264Thr Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Ile579Leu Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Leu295Phe Uncertain significance Single submitter
PKP1 p.Leu582Ile Uncertain significance Single submitter
PKP1 p.Lys175Arg Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Lys197Asn Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Lys222Arg Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Lys260Met Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Lys280Thr Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Lys449Arg Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Lys537Glu Uncertain significance Single submitter
PKP1 p.Lys539Glu Uncertain significance Single submitter
epidermolysis bullosa simplex due to plakophilin deficiency
PKP1 p.Lys91Arg Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Met709Leu Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Phe92Ile Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Pro102Leu Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Pro200Ser Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Pro400Ala Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Pro510Leu Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Ser174Asn Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Ser208Phe Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Ser225Cys Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Ser225Pro Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Ser225Tyr Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Ser278Thr Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Ser69Thr Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Ser69Tyr Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Thr180Ile Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Thr422Ala Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Thr422Asn Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Thr485Ser Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Thr514Ile Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Tyr12Cys Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Tyr130Cys Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Tyr473Phe Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Val303Ile Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Val374Ile Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Val397Leu Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Val441Ile Uncertain significance Single submitter
PKP1 p.Val469Ala Uncertain significance Single submitter
PKP1 p.Val615Leu Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 33

The independent predictors disagree with each other — read with care.

PKP1 p.Arg684Trp Benign Multiple submitters
epidermolysis bullosa simplex due to plakophilin deficiency
PKP1 p.Asn646Lys Uncertain significance Multiple submitters
Inborn genetic diseases
PKP1 p.Asp448Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PKP1 p.Lys151Asn Uncertain significance Multiple submitters
epidermolysis bullosa simplex due to plakophilin deficiency
PKP1 p.Ala24Gly Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Ala307Thr Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Arg154Cys Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Arg183Leu Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Arg183Ser Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Arg464Cys Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Arg51Trp Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Arg529Cys Uncertain significance Single submitter
epidermolysis bullosa simplex due to plakophilin deficiency
PKP1 p.Arg592Trp Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Arg603His Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Asp635Val Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Asp706His Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Cys454Ser Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Glu324Asp Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Glu333Lys Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Glu43Lys Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Glu618Lys Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Glu634Lys Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Gly559Arg Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Gly698Asp Uncertain significance Single submitter
epidermolysis bullosa simplex due to plakophilin deficiency
PKP1 p.Met611Ile Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Phe274Leu Uncertain significance Single submitter
epidermolysis bullosa simplex due to plakophilin deficiency
PKP1 p.Pro652Leu Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Ser596Phe Uncertain significance Single submitter
PKP1 p.Trp521Arg Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Val251Leu Uncertain significance Single submitter
PKP1 p.Val251Met Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Val451Met Uncertain significance Single submitter
Inborn genetic diseases
PKP1 p.Val619Ala Uncertain significance Single submitter
Inborn genetic diseases

All PKP1 variants

Pathogenic 7

p.Gln614Ter Single submitter
c.1233-2A>G No assertion criteria epidermolysis bullosa simplex due to plakophilin deficiency
c.1233-2A>T No assertion criteria epidermolysis bullosa simplex due to plakophilin deficiency
c.2021+1G>A No assertion criteria epidermolysis bullosa simplex due to plakophilin deficiency
p.Arg297fs No assertion criteria epidermolysis bullosa simplex due to plakophilin deficiency
p.Gln304Ter No assertion criteria epidermolysis bullosa simplex due to plakophilin deficiency
p.Val379fs No assertion criteria epidermolysis bullosa simplex due to plakophilin deficiency

Likely pathogenic 2

c.203-1G>C Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
p.Gln281Ter Single submitter epidermolysis bullosa simplex due to plakophilin deficiency

Conflicting classifications of pathogenicity 10

p.Ala483Thr Single submitter Inborn genetic diseases ⚠
p.Arg378= Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
p.Arg445Cys Single submitter Inborn genetic diseases ⚠
p.Arg581His Single submitter epidermolysis bullosa simplex due to plakophilin deficiency ⚠
p.Gly139= Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
p.Gly81Arg Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
p.Leu159Ile Single submitter epidermolysis bullosa simplex due to plakophilin deficiency ⚠
p.Leu583= Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
p.Ser519= Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
p.Tyr88Cys Single submitter epidermolysis bullosa simplex due to plakophilin deficiency ⚠

Benign 90

c.1232+109C>T Multiple submitters
c.1232+84G>A Multiple submitters
c.1233-220G>A Multiple submitters
c.1233-440G>A Multiple submitters
c.1233-497A>C Multiple submitters
c.1347+36G>A Multiple submitters
c.1348-121C>T Multiple submitters
c.1348-138T>G Multiple submitters
c.1348-40C>T Multiple submitters
c.1503+22C>T Multiple submitters
c.1504-105T>C Multiple submitters
c.1504-124G>A Multiple submitters
c.1504-15G>T Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
c.1504-31T>C Multiple submitters
c.1504-49C>T Multiple submitters
c.1835-84G>A Multiple submitters
c.1835-99C>T Multiple submitters
c.202+87C>G Multiple submitters
c.2021+16C>T Multiple submitters
c.2021+23G>A Multiple submitters
c.2022-16C>T Multiple submitters
c.203-144C>T Multiple submitters
c.2106+141C>T Multiple submitters
c.2107-223C>A Multiple submitters
c.306+157C>G Multiple submitters
c.307-127C>G Multiple submitters
c.702-282G>A Multiple submitters
c.846+84A>G Multiple submitters
c.847-22C>T Multiple submitters
c.847-72C>G Multiple submitters
c.-130A>T Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
c.*151G>A Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
c.*1673T>C Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
c.*1689C>A Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
c.*1884G>A Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
c.*192G>A Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
c.*1942A>C Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
c.*222G>C Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
c.*2505C>G Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
c.*2527G>A Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
c.*2542G>A Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
c.*2704A>G Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
c.*2737C>G Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
c.*301A>C Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
c.*579G>A Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
c.*616A>C Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
c.*673G>T Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
c.*683A>G Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
c.*709G>A Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
c.*731G>A Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
c.*856C>T Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
c.*864G>T Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
c.*924T>C Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
p.Ala306= Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
p.Ala442Val Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
p.Arg116His Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
p.Arg684Trp Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency ⚠
p.Cys161Tyr Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
p.Ile196Val Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
p.Leu245= Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
p.Lys260= Multiple submitters
p.Tyr12= Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
c.1054+13G>T Single submitter
c.1055-217T>C Single submitter
c.1233-727G>A Single submitter
c.1347+137T>C Single submitter
c.1347+182C>A Single submitter
c.1347+194C>A Single submitter
c.1348-316T>A Single submitter
c.1503+290G>A Single submitter
c.1504-296T>C Single submitter
c.1680+156G>T Single submitter
c.1680+171C>T Single submitter
c.1681-302C>A Single submitter
c.1835-13G>A Single submitter
c.202+249A>G Single submitter
c.2021+163C>T Single submitter
c.2021+234C>T Single submitter
c.2022-260G>A Single submitter
c.2022-290T>C Single submitter
c.203-315G>T Single submitter
c.846+160A>G Single submitter
c.847-76del Single submitter
c.-86C>A Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*2362C>T Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*2752G>A Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*2850C>A Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
p.Gln181= Single submitter
p.Ile240= Single submitter
c.1233-413C>A No assertion criteria PKP1-related disorder

Benign/Likely benign 4

c.1834+6G>A Multiple submitters
p.Arg420= Multiple submitters
p.Ser336= Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
p.Ser98= Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency

Likely benign 64

c.1054+20G>A Multiple submitters
c.*1305T>C Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
p.Ala140Thr Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
p.Arg202His Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
p.Arg327= Multiple submitters
p.Asn300Thr Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
p.Cys446Arg Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency
p.Ser497= Multiple submitters
c.1054+13G>A Single submitter
c.1055-16G>T Single submitter
c.1233-16C>T Single submitter
c.1233-412G>A Single submitter
c.1233-6C>T Single submitter
c.1233-80C>T Single submitter
c.1347+13C>T Single submitter
c.1504-19A>G Single submitter
c.202+10C>T Single submitter
c.2021+7G>C Single submitter
c.2022-11C>T Single submitter
c.2022-18C>G Single submitter
c.2022-18C>T Single submitter
c.2022-8C>T Single submitter
c.306+11del Single submitter
c.306+18T>G Single submitter
c.307-5G>T Single submitter
c.701+19G>A Single submitter
c.701+8C>T Single submitter
c.-116C>G Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*1148C>T Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*1555C>T Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*327C>T Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*718T>C Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*786A>G Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*896T>C Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
p.Ala152= Single submitter
p.Ala344= Single submitter
p.Ala344Thr Single submitter Inborn genetic diseases
p.Ala416= Single submitter
p.Ala442= Single submitter Inborn genetic diseases
p.Ala467= Single submitter
p.Arg128= Single submitter
p.Arg529His Single submitter
p.Arg581= Single submitter
p.Arg67= Single submitter
p.Asn125= Single submitter
p.Asn182His Single submitter
p.Asn302= Single submitter
p.Asn600= Single submitter
p.Asp276Tyr Single submitter
p.Asp417Asn Single submitter
p.Gly520Ser Single submitter Inborn genetic diseases
p.Leu353= Single submitter
p.Leu413= Single submitter
p.Leu458= Single submitter
p.Leu664= Single submitter
p.Pro203= Single submitter
p.Pro617= Single submitter
p.Ser391= Single submitter
p.Ser415= Single submitter
p.Ser650= Single submitter
p.Thr171= Single submitter
p.Val374= Single submitter
c.202+7G>C No assertion criteria PKP1-related disorder
p.Ser593= No assertion criteria PKP1-related disorder

Uncertain significance 215

p.Ala480Thr Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency ⚠
p.Arg332His Multiple submitters Inborn genetic diseases ⚠
p.Arg378Cys Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency ⚠
p.Arg420Cys Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency ⚠
p.Arg445His Multiple submitters ⚠
p.Arg645Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn503Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn646Lys Multiple submitters Inborn genetic diseases ⚠
p.Asp448Asn Multiple submitters Inborn genetic diseases ⚠
p.Leu295Val Multiple submitters Inborn genetic diseases ⚠
p.Lys151Asn Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency ⚠
p.Met46Leu Multiple submitters Inborn genetic diseases ⚠
p.Met70Val Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency ⚠
p.Thr620Ile Multiple submitters epidermolysis bullosa simplex due to plakophilin deficiency ⚠
c.1347+7G>A Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.-235G>T Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.-96G>A Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*1032C>T Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*1040G>A Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*1064G>A Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*1132T>A Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*1197C>T Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*1203C>T Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*1229C>T Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*1409C>T Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*1443G>A Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*1498A>G Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*1516T>C Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*1558C>T Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*1565C>T Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*1604C>T Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*1643C>A Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*1716C>T Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*1730G>A Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*1812G>A Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*221C>T Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*222G>A Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*2281C>T Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*2408A>G Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*2460C>T Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*2501C>T Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*2543C>A Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*2559A>G Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*2591G>A Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*2623C>G Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*2778C>T Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*2805C>G Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*2858C>A Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*2859G>A Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*320G>T Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*329C>T Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*349A>G Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*417G>A Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*447A>T Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*448T>C Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*56C>A Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*63G>C Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*673G>A Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*713T>G Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*741G>A Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*861A>G Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*894T>C Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
c.*933A>G Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
p.Ala231Ser Single submitter ⚠
p.Ala24Gly Single submitter Inborn genetic diseases ⚠
p.Ala250= Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
p.Ala266Val Single submitter Inborn genetic diseases ⚠
p.Ala307Ser Single submitter epidermolysis bullosa simplex due to plakophilin deficiency ⚠
p.Ala307Thr Single submitter Inborn genetic diseases ⚠
p.Ala307Val Single submitter Inborn genetic diseases
p.Ala308Pro Single submitter Inborn genetic diseases ⚠
p.Ala467Val Single submitter Inborn genetic diseases ⚠
p.Ala546Thr Single submitter ⚠
p.Ala595Gly Single submitter Inborn genetic diseases ⚠
p.Ala595Ser Single submitter Inborn genetic diseases ⚠
p.Ala640Ser Single submitter Inborn genetic diseases ⚠
p.Ala680Thr Single submitter ⚠
p.Ala716Thr Single submitter ⚠
p.Arg115Lys Single submitter Inborn genetic diseases ⚠
p.Arg116Cys Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
p.Arg128Gln Single submitter epidermolysis bullosa simplex due to plakophilin deficiency ⚠
p.Arg154Cys Single submitter Inborn genetic diseases ⚠
p.Arg164Trp Single submitter Inborn genetic diseases
p.Arg168Cys Single submitter Inborn genetic diseases
p.Arg168His Single submitter Inborn genetic diseases ⚠
p.Arg183Cys Single submitter Inborn genetic diseases
p.Arg183Leu Single submitter Inborn genetic diseases ⚠
p.Arg183Ser Single submitter Inborn genetic diseases ⚠
p.Arg202Cys Single submitter ⚠
p.Arg297Gly Single submitter Inborn genetic diseases ⚠
p.Arg297His Single submitter Inborn genetic diseases ⚠
p.Arg312His Single submitter Inborn genetic diseases ⚠
p.Arg326Gln Single submitter Inborn genetic diseases ⚠
p.Arg326Trp Single submitter Inborn genetic diseases ⚠
p.Arg332= Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
p.Arg332Cys Single submitter Inborn genetic diseases ⚠
p.Arg378His Single submitter ⚠
p.Arg424Cys Single submitter Inborn genetic diseases ⚠
p.Arg464Cys Single submitter Inborn genetic diseases ⚠
p.Arg464His Single submitter ⚠
p.Arg472Cys Single submitter Inborn genetic diseases ⚠
p.Arg474Cys Single submitter Inborn genetic diseases ⚠
p.Arg474His Single submitter Inborn genetic diseases ⚠
p.Arg481Cys Single submitter epidermolysis bullosa simplex due to plakophilin deficiency ⚠
p.Arg481Leu Single submitter Inborn genetic diseases
p.Arg51Trp Single submitter Inborn genetic diseases ⚠
p.Arg529Cys Single submitter epidermolysis bullosa simplex due to plakophilin deficiency ⚠
p.Arg592Trp Single submitter Inborn genetic diseases ⚠
p.Arg603His Single submitter Inborn genetic diseases ⚠
p.Arg672Gln Single submitter epidermolysis bullosa simplex due to plakophilin deficiency ⚠
p.Arg684Gln Single submitter epidermolysis bullosa simplex due to plakophilin deficiency ⚠
p.Arg707Lys Single submitter Inborn genetic diseases ⚠
p.Asn20Ser Single submitter Inborn genetic diseases ⚠
p.Asn453Ser Single submitter epidermolysis bullosa simplex due to plakophilin deficiency ⚠
p.Asn482Lys Single submitter Inborn genetic diseases ⚠
p.Asn515Lys Single submitter Inborn genetic diseases ⚠
p.Asp388Asn Single submitter Inborn genetic diseases ⚠
p.Asp417Glu Single submitter Inborn genetic diseases ⚠
p.Asp498Asn Single submitter ⚠
p.Asp589Glu Single submitter Inborn genetic diseases ⚠
p.Asp635Val Single submitter Inborn genetic diseases ⚠
p.Asp706His Single submitter Inborn genetic diseases ⚠
p.Cys273= Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
p.Cys273Tyr Single submitter Inborn genetic diseases ⚠
p.Cys387Phe Single submitter Inborn genetic diseases ⚠
p.Cys387Tyr Single submitter Inborn genetic diseases ⚠
p.Cys454Ser Single submitter Inborn genetic diseases ⚠
p.Gln275Leu Single submitter Inborn genetic diseases ⚠
p.Gln438Arg Single submitter Inborn genetic diseases ⚠
p.Gln52Lys Single submitter Inborn genetic diseases ⚠
p.Glu324Asp Single submitter Inborn genetic diseases ⚠
p.Glu333Lys Single submitter Inborn genetic diseases ⚠
p.Glu345Lys Single submitter Inborn genetic diseases ⚠
p.Glu43Lys Single submitter Inborn genetic diseases ⚠
p.Glu477Gln Single submitter Inborn genetic diseases ⚠
p.Glu618Lys Single submitter Inborn genetic diseases ⚠
p.Glu634Lys Single submitter Inborn genetic diseases ⚠
p.Glu681Asp Single submitter Inborn genetic diseases ⚠
p.Gly139Ser Single submitter Inborn genetic diseases ⚠
p.Gly165Asp Single submitter Inborn genetic diseases
p.Gly192Arg Single submitter Inborn genetic diseases ⚠
p.Gly309Glu Single submitter Inborn genetic diseases ⚠
p.Gly342Arg Single submitter Inborn genetic diseases ⚠
p.Gly428Glu Single submitter Inborn genetic diseases ⚠
p.Gly491Cys Single submitter ⚠
p.Gly491Val Single submitter ⚠
p.Gly559Arg Single submitter Inborn genetic diseases ⚠
p.Gly698Asp Single submitter epidermolysis bullosa simplex due to plakophilin deficiency ⚠
p.Gly698Cys Single submitter ⚠
p.Gly81Glu Single submitter Inborn genetic diseases
p.His129Arg Single submitter Inborn genetic diseases ⚠
p.His3Arg Single submitter Inborn genetic diseases ⚠
p.His459Tyr Single submitter Inborn genetic diseases ⚠
p.Ile144Leu Single submitter Inborn genetic diseases ⚠
p.Ile144Val Single submitter Inborn genetic diseases ⚠
p.Ile264Leu Single submitter epidermolysis bullosa simplex due to plakophilin deficiency ⚠
p.Ile264Thr Single submitter Inborn genetic diseases ⚠
p.Ile579Leu Single submitter Inborn genetic diseases ⚠
p.Leu295Phe Single submitter ⚠
p.Leu338= Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
p.Leu372= Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
p.Leu582Ile Single submitter ⚠
p.Lys175Arg Single submitter Inborn genetic diseases ⚠
p.Lys197Asn Single submitter Inborn genetic diseases ⚠
p.Lys222Arg Single submitter Inborn genetic diseases ⚠
p.Lys260Met Single submitter Inborn genetic diseases ⚠
p.Lys280Thr Single submitter Inborn genetic diseases ⚠
p.Lys449Arg Single submitter Inborn genetic diseases ⚠
p.Lys537Glu Single submitter ⚠
p.Lys539Glu Single submitter epidermolysis bullosa simplex due to plakophilin deficiency ⚠
p.Lys91Arg Single submitter Inborn genetic diseases ⚠
p.Met611Ile Single submitter Inborn genetic diseases ⚠
p.Met709Leu Single submitter Inborn genetic diseases ⚠
p.Phe274Leu Single submitter epidermolysis bullosa simplex due to plakophilin deficiency ⚠
p.Phe92Ile Single submitter Inborn genetic diseases ⚠
p.Pro102Leu Single submitter Inborn genetic diseases ⚠
p.Pro200Ser Single submitter Inborn genetic diseases ⚠
p.Pro400= Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
p.Pro400Ala Single submitter Inborn genetic diseases ⚠
p.Pro5= Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
p.Pro510Leu Single submitter Inborn genetic diseases ⚠
p.Pro617Leu Single submitter Inborn genetic diseases
p.Pro652Leu Single submitter Inborn genetic diseases ⚠
p.Ser174Asn Single submitter Inborn genetic diseases ⚠
p.Ser208Phe Single submitter Inborn genetic diseases ⚠
p.Ser225Cys Single submitter Inborn genetic diseases ⚠
p.Ser225Pro Single submitter Inborn genetic diseases ⚠
p.Ser225Tyr Single submitter Inborn genetic diseases ⚠
p.Ser278Thr Single submitter Inborn genetic diseases ⚠
p.Ser596Phe Single submitter ⚠
p.Ser69Thr Single submitter Inborn genetic diseases ⚠
p.Ser69Tyr Single submitter Inborn genetic diseases ⚠
p.Thr180Ile Single submitter Inborn genetic diseases ⚠
p.Thr422Ala Single submitter Inborn genetic diseases ⚠
p.Thr422Asn Single submitter Inborn genetic diseases ⚠
p.Thr485Ser Single submitter Inborn genetic diseases ⚠
p.Thr514Ile Single submitter Inborn genetic diseases ⚠
p.Trp126Cys Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
p.Trp521Arg Single submitter Inborn genetic diseases ⚠
p.Tyr12Cys Single submitter Inborn genetic diseases ⚠
p.Tyr130Cys Single submitter Inborn genetic diseases ⚠
p.Tyr473Phe Single submitter Inborn genetic diseases ⚠
p.Val251Leu Single submitter ⚠
p.Val251Met Single submitter Inborn genetic diseases ⚠
p.Val283Ile Single submitter Inborn genetic diseases
p.Val303Ile Single submitter Inborn genetic diseases ⚠
p.Val315= Single submitter epidermolysis bullosa simplex due to plakophilin deficiency
p.Val374Ile Single submitter Inborn genetic diseases ⚠
p.Val397Leu Single submitter Inborn genetic diseases ⚠
p.Val441Ile Single submitter ⚠
p.Val451Met Single submitter Inborn genetic diseases ⚠
p.Val469Ala Single submitter ⚠
p.Val615Leu Single submitter Inborn genetic diseases ⚠
p.Val619Ala Single submitter Inborn genetic diseases ⚠
p.Pro400Leu No assertion criteria