Total 17 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_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 Epidermolysis bullosa simplex due to plakophilin deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1324544 rs_150488138

2 SubmittersRCV000373346RCV000925345

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 Epidermolysis bullosa simplex due to plakophilin deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1324015 rs_147328328

2 SubmittersRCV000326818RCV000962933

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

2 SubmittersRCV002059421RCV000362830

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
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1324593 rs_142096411

4 SubmittersRCV001100300RCV002554963RCV004032063

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 Epidermolysis bullosa simplex due to plakophilin deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1324096 rs_367893541

2 SubmittersRCV003130836RCV003095397