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 SubmittersRCV000319878 RCV002519471
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 SubmittersRCV000373346 RCV000925345
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 SubmittersRCV000274417 RCV000894631
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 SubmittersRCV000326818 RCV000962933
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 SubmittersRCV002059421 RCV000362830
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 SubmittersRCV001100194 RCV002554960
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 SubmittersRCV001100297 RCV002556026
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 SubmittersRCV001100300 RCV002554963 RCV004032063
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 SubmittersRCV003130836 RCV003095397