Total 22 pathogenic variants reported for Epidermolysis bullosa simplex due to plakophilin deficiency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001005337.3(PKP1):c.910C>T (p.Gln304Ter) SNV
Germline		 Chr1:201317635 Pathogenic Epidermolysis bullosa simplex due to plakophilin deficiency No Assertion Criteria Provided
 CA118919 rs_121918354

1 SubmittersRCV000008041
NM_001005337.3(PKP1):c.1233-2A>T SNV
Germline		 Chr1:201320265 Pathogenic Epidermolysis bullosa simplex due to plakophilin deficiency No Assertion Criteria Provided
 CA344180021 rs_1558193923

1 SubmittersRCV000008043
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) SNV
Germline		 Chr6:7575454 Conflicting classifications of pathogenicity not specified
Cardiovascular phenotype
Arrhythmogenic right ventricular cardiomyopathy
Woolly hair-skin fragility syndrome
Epidermolysis bullosa simplex due to plakophilin deficiency
Condition: not provided
Lethal acantholytic epidermolysis bullosa
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8		 Criteria Provided
Conflicting Classifications
 CA005421 rs_142429411

12 SubmittersRCV000038010RCV000242786RCV000238965RCV000263694RCV000372307RCV000590388RCV000318707RCV000769221RCV001082571
NM_004415.4(DSP):c.939C>T (p.Ser313=) SNV
Germline		 Chr6:7565520 Conflicting classifications of pathogenicity not specified
Arrhythmogenic right ventricular cardiomyopathy
Lethal acantholytic epidermolysis bullosa
Epidermolysis bullosa simplex due to plakophilin deficiency
Woolly hair-skin fragility syndrome
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8		 Criteria Provided
Conflicting Classifications
 CA053203 rs_766580649

8 SubmittersRCV000214984RCV000264555RCV000304703RCV000361568RCV000395114RCV001187858RCV001726053RCV002444862RCV002517546
NM_001005337.3(PKP1):c.1747C>T (p.Leu583=) SNV
Germline		 Chr1:201324494 Conflicting classifications of pathogenicity Epidermolysis bullosa simplex due to plakophilin deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1324595 rs_369918615

2 SubmittersRCV000319878RCV002519471
NM_001005337.3(PKP1):c.1557C>T (p.Ser519=) SNV
Germline		 Chr1:201323066 Conflicting classifications of pathogenicity Condition: not provided
Epidermolysis bullosa simplex due to plakophilin deficiency		 Criteria Provided
Conflicting Classifications
 CA1324544 rs_150488138

2 SubmittersRCV000925345RCV000373346
NM_001005337.3(PKP1):c.1134C>T (p.Arg378=) SNV
Germline		 Chr1:201318697 Conflicting classifications of pathogenicity Epidermolysis bullosa simplex due to plakophilin deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1324322 rs_148096263

2 SubmittersRCV000274417RCV000894631
NM_001005337.3(PKP1):c.241G>A (p.Gly81Arg) SNV
Germline		 Chr1:201293980 Conflicting classifications of pathogenicity Condition: not provided
Epidermolysis bullosa simplex due to plakophilin deficiency		 Criteria Provided
Conflicting Classifications
 CA1324015 rs_147328328

2 SubmittersRCV000962933RCV000326818
NM_001005337.3(PKP1):c.263A>G (p.Tyr88Cys) SNV
Germline		 Chr1:201294002 Conflicting classifications of pathogenicity Epidermolysis bullosa simplex due to plakophilin deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1324020 rs_141060367

2 SubmittersRCV000362830RCV002059421
NM_004415.4(DSP):c.1469G>A (p.Arg490His) SNV
Germline		 Chr6:7569235 Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy
Woolly hair-skin fragility syndrome
Epidermolysis bullosa simplex due to plakophilin deficiency
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Cardiovascular phenotype
Lethal acantholytic epidermolysis bullosa
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma		 Criteria Provided
Conflicting Classifications
 CA028300 rs_747815091

5 SubmittersRCV000262316RCV000297782RCV000357218RCV000477531RCV001184739RCV000618799RCV000394321RCV003995892
NM_004415.4(DSP):c.4857G>C (p.Leu1619=) SNV
Germline		 Chr6:7581047 Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa
Arrhythmogenic right ventricular cardiomyopathy
Woolly hair-skin fragility syndrome
Epidermolysis bullosa simplex due to plakophilin deficiency
Cardiomyopathy		 Criteria Provided
Conflicting Classifications
 CA10624633 rs_373385083

2 SubmittersRCV000282377RCV000331338RCV000337340RCV000385908RCV001178093
NM_004415.4(DSP):c.5283C>T (p.Asn1761=) SNV
Germline		 Chr6:7581473 Conflicting classifications of pathogenicity Epidermolysis bullosa simplex due to plakophilin deficiency
Arrhythmogenic right ventricular cardiomyopathy
Woolly hair-skin fragility syndrome
Lethal acantholytic epidermolysis bullosa
Cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma		 Criteria Provided
Conflicting Classifications
 CA044490 rs_763355815

6 SubmittersRCV000312304RCV000288262RCV000352546RCV000406655RCV000777687RCV001443004RCV002348109RCV003995898
NM_001005337.3(PKP1):c.841C>T (p.Gln281Ter) SNV
Germline		 Chr1:201316692 Likely pathogenic Epidermolysis bullosa simplex due to plakophilin deficiency Criteria Provided
Single Submitter
 CA344177667 rs_1553275192

1 SubmittersRCV000585663
NM_001005337.3(PKP1):c.2021+1G>A SNV
Germline		 Chr1:201325128 Pathogenic Epidermolysis bullosa simplex due to plakophilin deficiency No Assertion Criteria Provided
 CA344184095 rs_1571564381

1 SubmittersRCV001003403
NM_001005337.3(PKP1):c.1233-2A>G SNV
Germline		 Chr1:201320265 Pathogenic Epidermolysis bullosa simplex due to plakophilin deficiency No Assertion Criteria Provided
 CA344180020 rs_1558193923

1 SubmittersRCV001003405
NM_001005337.3(PKP1):c.417C>T (p.Gly139=) SNV
Germline		 Chr1:201313276 Conflicting classifications of pathogenicity Epidermolysis bullosa simplex due to plakophilin deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1324073 rs_374045033

2 SubmittersRCV001100194RCV002554960
NM_001005337.3(PKP1):c.1401C>T (p.Ala467=) SNV
Germline		 Chr1:201322031 Conflicting classifications of pathogenicity Epidermolysis bullosa simplex due to plakophilin deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1324458 rs_569564663

2 SubmittersRCV001100297RCV002556026
NM_001005337.3(PKP1):c.1742G>A (p.Arg581His) SNV
Germline		 Chr1:201324489 Conflicting classifications of pathogenicity Epidermolysis bullosa simplex due to plakophilin deficiency
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1324593 rs_142096411

4 SubmittersRCV001100300RCV004032063RCV002554963
NM_001005337.3(PKP1):c.203-1G>C SNV
Germline		 Chr1:201293941 Likely pathogenic Epidermolysis bullosa simplex due to plakophilin deficiency Criteria Provided
Single Submitter
 CA344170832 rs_2102154917

1 SubmittersRCV001823495
NM_001005337.3(PKP1):c.475C>A (p.Leu159Ile) SNV
Germline		 Chr1:201313334 Conflicting classifications of pathogenicity Condition: not provided
Epidermolysis bullosa simplex due to plakophilin deficiency		 Criteria Provided
Conflicting Classifications
 CA1324096 rs_367893541

2 SubmittersRCV003095397RCV003130836