Total 16 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
Multiple Submitters
No Conflicts
 CA216827 rs_59629244

5 SubmittersRCV000015715RCV000056667RCV003387723
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
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA216919 rs_60399023

15 SubmittersRCV000015716RCV000056717RCV000679886RCV002243645RCV003924837RCV005348059
NM_000526.5(KRT14):c.374G>A (p.Arg125His) SNV
Germline		 Chr17:41586461 Pathogenic Epidermolysis bullosa simplex 1A, generalized severe
Condition: not provided
Dermatopathia pigmentosa reticularis
KRT14-related disorder
Epidermolysis bullosa simplex, Koebner type		 Criteria Provided
Multiple Submitters
No Conflicts
 CA216921 rs_58330629

8 SubmittersRCV000015717RCV000056718RCV003137528RCV003407339RCV006547496
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 SubmittersRCV000015721RCV000056753
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 SubmittersRCV000056685RCV001731185
NM_000424.4(KRT5):c.980T>C (p.Met327Thr) SNV
Germline		 Chr12:52517702 Pathogenic Condition: not provided
7 conditions
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex 2C, localized
KRT5-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA216803 rs_58072617

7 SubmittersRCV000056651RCV000762900RCV001197083RCV001731292RCV003894805
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 SubmittersRCV000056559RCV001115027RCV001197761RCV001332429RCV003989310
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 SubmittersRCV000056678RCV001778695
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 SubmittersRCV000056707RCV001778697RCV002247454
NM_000526.5(KRT14):c.374G>C (p.Arg125Pro) SNV
Germline		 Chr17:41586461 Pathogenic Condition: not provided
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex 1C, localized
Epidermolysis bullosa simplex 1A, generalized severe		 Criteria Provided
Single Submitter
 CA216923 rs_58330629

2 SubmittersRCV000056719RCV005862961
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 SubmittersRCV000056751RCV001807773
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 SubmittersRCV000258019RCV000415529
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 SubmittersRCV000258008RCV000415601
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 SubmittersRCV000258014RCV000415556RCV000493863RCV004758678
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 SubmittersRCV000408918RCV000415575
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