Total 14 pathogenic variants reported for Epidermolysis bullosa simplex, Koebner type

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000526.5(KRT14):c.1151T>C (p.Leu384Pro)	SNV Germline	Chr17:41583358	Likely pathogenic	Epidermolysis bullosa simplex, Koebner type Condition: not provided Epidermolysis bullosa simplex 1A, generalized severe	Criteria Provided Single Submitter	CA216827	rs_59629244	4 SubmittersRCV000015715 RCV000056667 RCV003387723
NM_000526.5(KRT14):c.373C>T (p.Arg125Cys)	SNV Germline	Chr17:41586462	Pathogenic	Epidermolysis bullosa simplex 1A, generalized severe Condition: not provided Epidermolysis bullosa simplex Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex 1A, generalized severe KRT14-related disorder Epidermolysis bullosa simplex, Koebner type Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA216919	rs_60399023	14 SubmittersRCV000015716 RCV000056717 RCV000679886 RCV002243645 RCV003924837 RCV001807730 RCV005348059
NM_000526.5(KRT14):c.815T>G (p.Met272Arg)	SNV Germline	Chr17:41583872	Pathogenic	Epidermolysis bullosa simplex, Koebner type Condition: not provided	No Assertion Criteria Provided	CA216982	rs_61371557	2 SubmittersRCV000015721 RCV000056753
NM_000526.5(KRT14):c.1243T>C (p.Tyr415His)	SNV Germline	Chr17:41583266	Pathogenic	Condition: not provided Epidermolysis bullosa simplex, Koebner type	Criteria Provided Single Submitter	CA216861	rs_58380626	3 SubmittersRCV000056685 RCV001731185
NM_000424.4(KRT5):c.980T>C (p.Met327Thr)	SNV Germline	Chr12:52517702	Pathogenic	Condition: not provided Epidermolysis bullosa simplex, Koebner type 7 conditions KRT5-related disorder Epidermolysis bullosa simplex 2C, localized	Criteria Provided Multiple Submitters No Conflicts	CA216803	rs_58072617	7 SubmittersRCV000056651 RCV001197083 RCV000762900 RCV003894805 RCV001731292
NM_000424.4(KRT5):c.1411C>T (p.Arg471Cys)	SNV Germline	Chr12:52516665	Conflicting classifications of pathogenicity	Condition: not provided Epidermolysis bullosa simplex Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex 1C, localized Epidermolysis bullosa simplex 2A, generalized severe	Criteria Provided Conflicting Classifications	CA216667	rs_267607448	6 SubmittersRCV000056559 RCV001115027 RCV001197761 RCV001332429 RCV003989310
NM_000526.5(KRT14):c.1231G>T (p.Glu411Ter)	SNV Germline	Chr17:41583278	Pathogenic	Condition: not provided Epidermolysis bullosa simplex, Koebner type	No Assertion Criteria Provided	CA216848	rs_61664582	2 SubmittersRCV000056678 RCV001778695
NM_000526.5(KRT14):c.355A>G (p.Met119Val)	SNV Germline	Chr17:41586480	Pathogenic/Likely pathogenic	Condition: not provided Epidermolysis bullosa simplex, Koebner type Dermatopathia pigmentosa reticularis	Criteria Provided Multiple Submitters No Conflicts	CA216899	rs_61263401	4 SubmittersRCV000056707 RCV001778697 RCV002247454
NM_000526.5(KRT14):c.808G>A (p.Val270Met)	SNV Germline	Chr17:41583879	Pathogenic	Condition: not provided Epidermolysis bullosa simplex, Koebner type	Criteria Provided Single Submitter	CA216978	rs_58560979	2 SubmittersRCV000056751 RCV001807773
NM_017644.3(KLHL24):c.3G>A (p.Met1Ile)	SNV Germline	Chr3:183650359	Pathogenic	Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss	Criteria Provided Single Submitter	CA10587988	rs_886037957	2 SubmittersRCV000258019 RCV000415529
NM_017644.3(KLHL24):c.3G>T (p.Met1Ile)	SNV Germline	Chr3:183650359	Pathogenic	Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss	Criteria Provided Single Submitter	CA10587989	rs_886037957	2 SubmittersRCV000258008 RCV000415601
NM_017644.3(KLHL24):c.1A>G (p.Met1Val)	SNV Germline	Chr3:183650357	Pathogenic	Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss Condition: not provided KLHL24-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10587990	rs_886037956	7 SubmittersRCV000258014 RCV000415556 RCV000493863 RCV004758678
NM_017644.3(KLHL24):c.2T>C (p.Met1Thr)	SNV Germline	Chr3:183650358	Pathogenic	Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss	Criteria Provided Single Submitter	CA16040629	rs_1057515580	2 SubmittersRCV000408918 RCV000415575
NM_000424.4(KRT5):c.1394T>G (p.Val465Gly)	SNV Germline	Chr12:52516682	Likely pathogenic	Epidermolysis bullosa simplex, Koebner type	No Assertion Criteria Provided	CA384923593	rs_1555156076	1 SubmittersRCV000505555