KRT5 — 344 ClinVar variants
All ClinVar germline KRT5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 128 flagged for review →
54 Pathogenic · 10 Pathogenic/Likely pathogenic · 32 Likely pathogenic · 18 Conflicting · 29 Benign · 9 Benign/Likely benign · 46 Likely benign · 146 Uncertain significance
Full KRT5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 128
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
KRT5 p.Val7Ala
Pathogenic
No assertion criteria
epidermolysis bullosa simplex 2B, generalized intermediate
Predictors agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
KRT5 p.Arg471Cys
Conflicting
Single submitter
epidermolysis bullosa simplex
-
KRT5 p.Arg63Trp
Conflicting
Single submitter
Inborn genetic diseases
-
KRT5 p.Asn329Ser
Conflicting
Single submitter
epidermolysis bullosa simplex
-
KRT5 p.Glu466Asp
Conflicting
Single submitter
epidermolysis bullosa simplex 2A, generalized severe
-
KRT5 p.Gly539Ser
Conflicting
Single submitter
Inborn genetic diseases
-
KRT5 p.Phe46Ile
Conflicting
Single submitter
Inborn genetic diseases
-
KRT5 p.Thr469Ser
Conflicting
Single submitter
epidermolysis bullosa simplex
Predicted LoF vs a conflicting call 2
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
KRT5 p.Arg559Ter
Conflicting
Single submitter
KRT5-related disorder
-
KRT5 p.Cys479Ter
Conflicting
Single submitter
KRT5-related disorder
Predictors lean, ClinVar uncertain 75
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
KRT5 p.Ala20Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT5 p.Arg169His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT5 p.Arg239Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT5 p.Arg354Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT5 p.Arg559Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT5 p.Arg585Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT5 p.Gly42Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT5 p.His375Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT5 p.Phe83Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT5 p.Ser75Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- KRT5 p.Ala309Pro Uncertain significance Single submitter
-
KRT5 p.Ala408Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Ala415Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT5 p.Ala54Thr Uncertain significance Single submitter
-
KRT5 p.Arg169Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT5 p.Arg237Trp Uncertain significance Single submitter
-
KRT5 p.Arg265Pro
Uncertain significance
Single submitter
epidermolysis bullosa simplex 2C, localized
-
KRT5 p.Arg352Cys
Uncertain significance
Single submitter
epidermolysis bullosa simplex 2E, with migratory circinate erythema
- KRT5 p.Arg354Pro Uncertain significance Single submitter
-
KRT5 p.Arg391Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Arg395Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT5 p.Arg420His Uncertain significance Single submitter
-
KRT5 p.Arg451Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Arg86Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT5 p.Asn301Ile Uncertain significance Single submitter
- KRT5 p.Asn330Lys Uncertain significance Single submitter
-
KRT5 p.Asn67Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT5 p.Asp197Asn Uncertain significance Single submitter
-
KRT5 p.Asp308Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Gln171Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT5 p.Gln192Pro Uncertain significance Single submitter
-
KRT5 p.Gln221Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Gln406Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT5 p.Glu142Lys Uncertain significance Single submitter
- KRT5 p.Glu167Lys Uncertain significance Single submitter
-
KRT5 p.Glu168Asp
Uncertain significance
Single submitter
epidermolysis bullosa simplex 2B, generalized intermediate
- KRT5 p.Glu190Gly Uncertain significance Single submitter
-
KRT5 p.Glu220Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Glu236Lys
Uncertain significance
Single submitter
Abnormal skin pigmentation
- KRT5 p.Glu243Gly Uncertain significance Single submitter
-
KRT5 p.Glu418Asp
Uncertain significance
Single submitter
epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive
-
KRT5 p.Glu478Asp
Uncertain significance
Single submitter
epidermolysis bullosa simplex 2E, with migratory circinate erythema
-
KRT5 p.Gly128Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Gly129Val
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT5 p.Gly12Arg Uncertain significance Single submitter
- KRT5 p.Gly131Asp Uncertain significance Single submitter
-
KRT5 p.Gly44Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Gly510Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT5 p.Gly538Arg Uncertain significance Single submitter
-
KRT5 p.Gly541Ser
Uncertain significance
Single submitter
epidermolysis bullosa simplex
-
KRT5 p.Gly545Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT5 p.Gly69Arg Uncertain significance Single submitter
-
KRT5 p.His317Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT5 p.Leu203Met Uncertain significance Single submitter
-
KRT5 p.Leu215Met
Uncertain significance
Single submitter
epidermolysis bullosa simplex 2E, with migratory circinate erythema
-
KRT5 p.Leu215Val
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT5 p.Leu474Pro Uncertain significance Single submitter
- KRT5 p.Leu520Ile Uncertain significance Single submitter
-
KRT5 p.Lys194Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT5 p.Lys405Arg Uncertain significance Single submitter
- KRT5 p.Lys431Glu Uncertain significance Single submitter
-
KRT5 p.Lys576Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Met284Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Phe87Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Pro152Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Ser567Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Ser573Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Ser582Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Ser62Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Thr24Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT5 p.Thr495Ile Uncertain significance Single submitter
-
KRT5 p.Tyr365Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT5 p.Tyr95Cys Uncertain significance Single submitter
- KRT5 p.Val186Gly Uncertain significance Single submitter
-
KRT5 p.Arg585Gln
Uncertain significance
No assertion criteria
KRT5-related disorder
Predictors split 43
The independent predictors disagree with each other — read with care.
-
KRT5 p.Ala101Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT5 p.Arg37Gln
Benign/Likely benign
Multiple submitters
Dowling-Degos disease 1
-
KRT5 p.Arg86Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT5 p.Gly373Ala
Uncertain significance
Multiple submitters
epidermolysis bullosa simplex
- KRT5 p.Gly94Ser Benign/Likely benign Multiple submitters
-
KRT5 p.Ser536Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT5 p.Thr316Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT5 p.Ala309Val
Conflicting
Single submitter
Inborn genetic diseases
-
KRT5 p.Ala415Val
Uncertain significance
Single submitter
epidermolysis bullosa simplex
-
KRT5 p.Ala433Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Arg10Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Arg15Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT5 p.Arg15Gly Uncertain significance Single submitter
-
KRT5 p.Arg237Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT5 p.Arg29His Conflicting Single submitter
-
KRT5 p.Arg352His
Likely benign
Single submitter
epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive
- KRT5 p.Arg37Trp Conflicting Single submitter
- KRT5 p.Arg451His Uncertain significance Single submitter
-
KRT5 p.Asn332His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Asn409His
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT5 p.Asn409Thr Uncertain significance Single submitter
-
KRT5 p.Asp336Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Cys407Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT5 p.Gly102Ser Uncertain significance Single submitter
- KRT5 p.Gly108Ser Conflicting Single submitter
-
KRT5 p.Gly109Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Gly118Ser
Likely benign
Single submitter
epidermolysis bullosa simplex
-
KRT5 p.Gly122Ser
Uncertain significance
Single submitter
epidermolysis bullosa simplex
-
KRT5 p.Gly39Arg
Conflicting
Single submitter
Inborn genetic diseases
-
KRT5 p.Gly519Ser
Conflicting
Single submitter
Inborn genetic diseases
- KRT5 p.Gly521Cys Uncertain significance Single submitter
-
KRT5 p.Gly550Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Gly59Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Leu481Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Lys404Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Phe127Leu
Uncertain significance
Single submitter
epidermolysis bullosa simplex
-
KRT5 p.Phe87Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Pro137Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Ser497Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Ser50Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Ser535Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Thr174Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT5 p.Thr19Ile
Uncertain significance
Single submitter
Inborn genetic diseases
All KRT5 variants
Pathogenic 54
- c.555+1G>A Multiple submitters KRT5-related disorder
- p.Arg165Ser Multiple submitters
- p.Glu168Lys Multiple submitters
- p.Glu170Lys Multiple submitters epidermolysis bullosa simplex
- p.Glu477Lys Multiple submitters KRT5-related disorder
- p.Gly550fs Multiple submitters epidermolysis bullosa simplex
- p.Ile161Ser Multiple submitters epidermolysis bullosa simplex 1C, localized
- p.Leu463Pro Multiple submitters epidermolysis bullosa simplex
- p.Met327Thr Multiple submitters Dowling-Degos disease 1
- p.Pro25Leu Multiple submitters Inborn genetic diseases
- p.Ser181Pro Multiple submitters KRT5-related disorder
- p.Val186Met Multiple submitters epidermolysis bullosa simplex
- p.Val323Ala Multiple submitters KRT5-related disorder
- c.1440-1G>A Single submitter
- c.556-16C>G Single submitter epidermolysis bullosa simplex
- c.771delG Single submitter epidermolysis bullosa simplex
- c.927+1G>T Single submitter
- p.Ala180Asp Single submitter
- p.Ala180Pro Single submitter
- p.Arg480Ter Single submitter
- p.Asn176Asp Single submitter
- p.Asn176Lys Single submitter
- p.Asn193Lys Single submitter epidermolysis bullosa simplex
- p.Asp158Tyr Single submitter
- p.Asp328Val Single submitter epidermolysis bullosa simplex
- p.Gln4Ter Single submitter
- p.Glu168Gly Single submitter
- p.Glu455Ter Single submitter
- p.Ile140fs Single submitter Dowling-Degos disease 1
- p.Ile161Asn Single submitter
- p.Ile183Met Single submitter
- p.Ile467Phe Single submitter
- p.Leu150Pro Single submitter KRT5-related disorder
- p.Lys173Asn Single submitter epidermolysis bullosa simplex 2B, generalized intermediate
- p.Lys199Met Single submitter epidermolysis bullosa
- p.Met1Val Single submitter
- p.Phe182Ser Single submitter
- p.Thr321Pro Single submitter epidermolysis bullosa simplex
- p.Tyr470His Single submitter
- p.Tyr470Ter Single submitter
- p.Val186Glu Single submitter epidermolysis bullosa simplex
- p.Val186Leu Single submitter epidermolysis bullosa simplex
- p.Asn329Lys No assertion criteria epidermolysis bullosa simplex 2C, localized
- p.Asp158Asn No assertion criteria EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE
- p.Glu475Gly No assertion criteria epidermolysis bullosa simplex 2A, generalized severe
- p.Glu477Ter No assertion criteria epidermolysis bullosa simplex 2A, generalized severe
- p.Leu175Phe No assertion criteria epidermolysis bullosa simplex 2A, generalized severe
- p.Leu546fs No assertion criteria epidermolysis bullosa simplex 2C, localized
- p.Lys441_Gln444del No assertion criteria epidermolysis bullosa simplex 2E, with migratory circinate erythema
- p.Lys472Ter No assertion criteria epidermolysis bullosa simplex 2B, generalized intermediate
- p.Ser547fs No assertion criteria epidermolysis bullosa simplex 2E, with migratory circinate erythema
- p.Ser551fs No assertion criteria epidermolysis bullosa simplex 2E, with migratory circinate erythema
- p.Ser5Ter No assertion criteria Dowling-Degos disease 1
- p.Val7Ala No assertion criteria epidermolysis bullosa simplex 2B, generalized intermediate ⚠
Pathogenic/Likely pathogenic 10
- p.Ala428Thr Multiple submitters KRT5-related disorder
- p.Ala428Val Multiple submitters epidermolysis bullosa simplex
- p.Arg331Cys Multiple submitters epidermolysis bullosa simplex 2A, generalized severe
- p.Arg331His Multiple submitters KRT5-related disorder
- p.Asn176Ser Multiple submitters epidermolysis bullosa simplex 2F, with mottled pigmentation
- p.Asn177Ser Multiple submitters KRT5-related disorder
- p.Glu466Gln Multiple submitters epidermolysis bullosa simplex
- p.Gly476Asp Multiple submitters KRT5-related disorder
- p.Leu196Pro Multiple submitters epidermolysis bullosa simplex
- p.Lys199Asn Multiple submitters Dowling-Degos disease 1
Likely pathogenic 32
- c.1219-20_1229del Single submitter epidermolysis bullosa simplex 2E, with migratory circinate erythema
- c.1474+3A>C Single submitter
- c.832-2A>C Single submitter
- c.927+1G>A Single submitter KRT5-related disorder
- p.Ala424Pro Single submitter
- p.Ala438Asp Single submitter
- p.Ala468Ser Single submitter
- p.Arg169Pro Single submitter
- p.Arg187Pro Single submitter KRT5-related disorder
- p.Asn177Tyr Single submitter epidermolysis bullosa simplex 1A, generalized severe
- p.Asp328His Single submitter
- p.Asp464Glu Single submitter
- p.Cys135Ter Single submitter KRT5-related disorder
- p.Cys407fs Single submitter epidermolysis bullosa simplex 2E, with migratory circinate erythema
- p.Glu168Val Single submitter
- p.Glu475Ala Single submitter KRT5-related disorder
- p.Ile183Ser Single submitter
- p.Ile183Thr Single submitter KRT5-related disorder
- p.Leu155Gln Single submitter
- p.Leu189Pro Single submitter
- p.Leu202Arg Single submitter
- p.Leu325Pro Single submitter KRT5-related disorder
- p.Leu425_Ala433del Single submitter
- p.Phe272_Val273insTer Single submitter epidermolysis bullosa simplex
- p.Pro152Leu Single submitter
- p.Tyr470Asp Single submitter
- p.Tyr470Cys Single submitter epidermolysis bullosa simplex 2B, generalized intermediate
- p.Val145Asp Single submitter
- p.Val145Gly Single submitter KRT5-related disorder
- p.Val323Met Single submitter epidermolysis bullosa simplex 2B, generalized intermediate
- p.Glu170Ter No assertion criteria epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive
- p.Val465Gly No assertion criteria epidermolysis bullosa simplex 1B, generalized intermediate
Conflicting classifications of pathogenicity 18
- p.Ala309Val Single submitter Inborn genetic diseases ⚠
- p.Ala525= Single submitter epidermolysis bullosa simplex
- p.Arg29His Single submitter ⚠
- p.Arg37Trp Single submitter ⚠
- p.Arg471Cys Single submitter epidermolysis bullosa simplex ⚠
- p.Arg559Ter Single submitter KRT5-related disorder ⚠
- p.Arg63Trp Single submitter Inborn genetic diseases ⚠
- p.Asn329Ser Single submitter epidermolysis bullosa simplex ⚠
- p.Cys479Ter Single submitter KRT5-related disorder ⚠
- p.Glu466Asp Single submitter epidermolysis bullosa simplex 2A, generalized severe ⚠
- p.Gly108Ser Single submitter ⚠
- p.Gly39Arg Single submitter Inborn genetic diseases ⚠
- p.Gly519Ser Single submitter Inborn genetic diseases ⚠
- p.Gly539Asp Single submitter Inborn genetic diseases
- p.Gly539Ser Single submitter Inborn genetic diseases ⚠
- p.Phe46Ile Single submitter Inborn genetic diseases ⚠
- p.Ser181del Single submitter KRT5-related disorder
- p.Thr469Ser Single submitter epidermolysis bullosa simplex ⚠
Benign 29
- c.1218+40T>C Multiple submitters
- c.1219-46C>A Multiple submitters
- c.1219-71T>C Multiple submitters
- c.1474+163A>G Multiple submitters
- c.1475-37A>T Multiple submitters
- c.1475-6C>T Multiple submitters epidermolysis bullosa simplex
- c.555+9C>T Multiple submitters epidermolysis bullosa simplex
- c.-73T>C Multiple submitters epidermolysis bullosa simplex
- c.*185G>A Multiple submitters epidermolysis bullosa simplex
- c.*253C>T Multiple submitters epidermolysis bullosa simplex
- p.Ala398= Multiple submitters epidermolysis bullosa simplex
- p.Ala52= Multiple submitters epidermolysis bullosa simplex
- p.Arg48= Multiple submitters epidermolysis bullosa simplex
- p.Gly138Glu Multiple submitters epidermolysis bullosa simplex
- p.Gly518= Multiple submitters epidermolysis bullosa simplex
- p.Gly543Ser Multiple submitters epidermolysis bullosa simplex
- p.Gly569Arg Multiple submitters epidermolysis bullosa simplex
- p.Leu117= Multiple submitters epidermolysis bullosa simplex
- p.Phe87Val Multiple submitters epidermolysis bullosa simplex
- p.Ser528Gly Multiple submitters epidermolysis bullosa simplex
- p.Thr19= Multiple submitters epidermolysis bullosa simplex
- p.Thr198= Multiple submitters epidermolysis bullosa simplex
- p.Thr210= Multiple submitters epidermolysis bullosa simplex
- p.Thr355= Multiple submitters epidermolysis bullosa simplex
- c.*263T>C Single submitter epidermolysis bullosa simplex
- c.*323T>C Single submitter epidermolysis bullosa simplex
- p.Ile157= Single submitter
- p.Leu461= Single submitter
- p.Val540= Single submitter
Benign/Likely benign 9
- p.Ala357= Multiple submitters epidermolysis bullosa simplex
- p.Arg10= Multiple submitters epidermolysis bullosa simplex
- p.Arg37Gln Multiple submitters Dowling-Degos disease 1 ⚠
- p.Asn412= Multiple submitters epidermolysis bullosa simplex
- p.Gly13= Multiple submitters epidermolysis bullosa simplex
- p.Gly94Ser Multiple submitters ⚠
- p.Leu512= Multiple submitters
- p.Leu546Ile Multiple submitters epidermolysis bullosa simplex 1C, localized
- p.Phe127= Multiple submitters epidermolysis bullosa simplex
Likely benign 46
- p.Gly108= Multiple submitters
- p.Lys72= Multiple submitters
- p.Met303Leu Multiple submitters Inborn genetic diseases
- c.1093-7G>T Single submitter
- c.1439+18A>G Single submitter
- c.1440-10C>G Single submitter
- c.1440-16A>G Single submitter
- c.1440-6T>C Single submitter
- c.556-16C>T Single submitter
- c.770+7T>G Single submitter
- c.832-17C>T Single submitter
- c.927+13T>C Single submitter
- p.509GGGL[2] Single submitter
- p.Arg169= Single submitter
- p.Arg187Gln Single submitter epidermolysis bullosa simplex
- p.Arg227= Single submitter
- p.Arg239= Single submitter
- p.Arg352His Single submitter epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive ⚠
- p.Arg559= Single submitter
- p.Asp197Glu Single submitter epidermolysis bullosa simplex 1A, generalized severe
- p.Glu252= Single submitter
- p.Glu399Lys Single submitter
- p.Glu434= Single submitter
- p.Gly109Ser Single submitter
- p.Gly118Ser Single submitter epidermolysis bullosa simplex ⚠
- p.Gly119= Single submitter epidermolysis bullosa simplex
- p.Gly41= Single submitter epidermolysis bullosa simplex
- p.Gly517= Single submitter
- p.Gly521Ser Single submitter
- p.Ile233= Single submitter
- p.Leu155= Single submitter
- p.Leu244= Single submitter
- p.Leu546= Single submitter
- p.Phe219= Single submitter
- p.Ser232Gly Single submitter Inborn genetic diseases
- p.Ser242= Single submitter
- p.Ser34= Single submitter
- p.Ser38= Single submitter
- p.Ser38Ala Single submitter
- p.Ser499Pro Single submitter epidermolysis bullosa simplex
- p.Ser534= Single submitter
- p.Ser579Tyr Single submitter epidermolysis bullosa simplex
- p.Thr166= Single submitter
- p.Val211Met Single submitter
- c.556-25A>G No assertion criteria KRT5-related disorder
- p.Gln221= No assertion criteria KRT5-related disorder
Uncertain significance 146
- p.Ala101Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala20Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg169His Multiple submitters Inborn genetic diseases ⚠
- p.Arg239Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg354Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg559Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg585Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg86Trp Multiple submitters Inborn genetic diseases ⚠
- p.Gly120Arg Multiple submitters Inborn genetic diseases
- p.Gly373Ala Multiple submitters epidermolysis bullosa simplex ⚠
- p.Gly42Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly526Arg Multiple submitters Inborn genetic diseases
- p.His375Arg Multiple submitters Inborn genetic diseases ⚠
- p.Phe83Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro217Leu Multiple submitters Dowling-Degos disease 1
- p.Ser536Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser75Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Thr316Met Multiple submitters Inborn genetic diseases ⚠
- c.1439+6T>C Single submitter
- c.1474+1G>T Single submitter
- c.1474+2dup Single submitter
- c.556-4C>A Single submitter epidermolysis bullosa simplex
- c.771-15C>T Single submitter epidermolysis bullosa simplex
- c.-69C>T Single submitter epidermolysis bullosa simplex
- c.-7A>C Single submitter epidermolysis bullosa simplex
- c.-81C>T Single submitter epidermolysis bullosa simplex
- c.*134A>G Single submitter epidermolysis bullosa simplex
- c.*232T>C Single submitter epidermolysis bullosa simplex
- c.*271C>T Single submitter epidermolysis bullosa simplex
- c.*320T>A Single submitter epidermolysis bullosa simplex
- c.*334A>G Single submitter epidermolysis bullosa simplex
- c.*59C>T Single submitter epidermolysis bullosa simplex
- p.Ala309Pro Single submitter ⚠
- p.Ala408Thr Single submitter Inborn genetic diseases ⚠
- p.Ala415Glu Single submitter Inborn genetic diseases ⚠
- p.Ala415Val Single submitter epidermolysis bullosa simplex ⚠
- p.Ala433Asp Single submitter Inborn genetic diseases ⚠
- p.Ala54Thr Single submitter ⚠
- p.Arg10Trp Single submitter Inborn genetic diseases ⚠
- p.Arg15Cys Single submitter Inborn genetic diseases ⚠
- p.Arg15Gly Single submitter ⚠
- p.Arg169Ser Single submitter Inborn genetic diseases ⚠
- p.Arg237Gln Single submitter Inborn genetic diseases ⚠
- p.Arg237Trp Single submitter ⚠
- p.Arg265Pro Single submitter epidermolysis bullosa simplex 2C, localized ⚠
- p.Arg352Cys Single submitter epidermolysis bullosa simplex 2E, with migratory circinate erythema ⚠
- p.Arg354Pro Single submitter ⚠
- p.Arg391Trp Single submitter Inborn genetic diseases ⚠
- p.Arg395Ser Single submitter Inborn genetic diseases ⚠
- p.Arg420His Single submitter ⚠
- p.Arg448= Single submitter epidermolysis bullosa simplex
- p.Arg451His Single submitter ⚠
- p.Arg451Pro Single submitter Inborn genetic diseases ⚠
- p.Arg86Gln Single submitter Inborn genetic diseases ⚠
- p.Asn301Ile Single submitter ⚠
- p.Asn330Lys Single submitter ⚠
- p.Asn332His Single submitter Inborn genetic diseases ⚠
- p.Asn409His Single submitter Inborn genetic diseases ⚠
- p.Asn409Thr Single submitter ⚠
- p.Asn67Ser Single submitter Inborn genetic diseases ⚠
- p.Asp197Asn Single submitter ⚠
- p.Asp308Gly Single submitter Inborn genetic diseases ⚠
- p.Asp336Asn Single submitter Inborn genetic diseases ⚠
- p.Cys135Phe Single submitter Inborn genetic diseases
- p.Cys407Arg Single submitter Inborn genetic diseases ⚠
- p.Gln171Lys Single submitter Inborn genetic diseases ⚠
- p.Gln192Pro Single submitter ⚠
- p.Gln221Arg Single submitter Inborn genetic diseases
- p.Gln221Leu Single submitter Inborn genetic diseases ⚠
- p.Gln406Lys Single submitter Inborn genetic diseases ⚠
- p.Glu142Lys Single submitter ⚠
- p.Glu167Lys Single submitter ⚠
- p.Glu168Asp Single submitter epidermolysis bullosa simplex 2B, generalized intermediate ⚠
- p.Glu190Gly Single submitter ⚠
- p.Glu220Lys Single submitter Inborn genetic diseases ⚠
- p.Glu236Lys Single submitter Abnormal skin pigmentation ⚠
- p.Glu243Gly Single submitter ⚠
- p.Glu418Asp Single submitter epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive ⚠
- p.Glu478Asp Single submitter epidermolysis bullosa simplex 2E, with migratory circinate erythema ⚠
- p.Gly102Ser Single submitter ⚠
- p.Gly109Val Single submitter Inborn genetic diseases ⚠
- p.Gly122Ser Single submitter epidermolysis bullosa simplex ⚠
- p.Gly128Ser Single submitter Inborn genetic diseases ⚠
- p.Gly129Val Single submitter Inborn genetic diseases ⚠
- p.Gly12Arg Single submitter ⚠
- p.Gly131Asp Single submitter ⚠
- p.Gly421= Single submitter epidermolysis bullosa simplex
- p.Gly44Val Single submitter Inborn genetic diseases ⚠
- p.Gly45fs Single submitter
- p.Gly510Ser Single submitter Inborn genetic diseases ⚠
- p.Gly521Cys Single submitter ⚠
- p.Gly527Asp Single submitter
- p.Gly538Arg Single submitter ⚠
- p.Gly53Asp Single submitter Inborn genetic diseases
- p.Gly541Ser Single submitter epidermolysis bullosa simplex ⚠
- p.Gly545Glu Single submitter Inborn genetic diseases ⚠
- p.Gly550Arg Single submitter Inborn genetic diseases ⚠
- p.Gly59Val Single submitter Inborn genetic diseases ⚠
- p.Gly69Arg Single submitter ⚠
- p.His317Leu Single submitter Inborn genetic diseases ⚠
- p.Leu149fs Single submitter epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive
- p.Leu150del Single submitter
- p.Leu202Val Single submitter
- p.Leu203Met Single submitter ⚠
- p.Leu215Met Single submitter epidermolysis bullosa simplex 2E, with migratory circinate erythema ⚠
- p.Leu215Val Single submitter Inborn genetic diseases ⚠
- p.Leu474Pro Single submitter ⚠
- p.Leu481Val Single submitter Inborn genetic diseases ⚠
- p.Leu520Ile Single submitter ⚠
- p.Lys194Glu Single submitter Inborn genetic diseases ⚠
- p.Lys404Arg Single submitter Inborn genetic diseases ⚠
- p.Lys405Arg Single submitter ⚠
- p.Lys426_Arg429dup Single submitter
- p.Lys431Glu Single submitter ⚠
- p.Lys576Arg Single submitter Inborn genetic diseases ⚠
- p.Met274Thr Single submitter Inborn genetic diseases
- p.Met284Val Single submitter Inborn genetic diseases ⚠
- p.Phe127Leu Single submitter epidermolysis bullosa simplex ⚠
- p.Phe83= Single submitter epidermolysis bullosa simplex
- p.Phe87Cys Single submitter Inborn genetic diseases ⚠
- p.Phe87Leu Single submitter Inborn genetic diseases ⚠
- p.Pro137Ala Single submitter Inborn genetic diseases ⚠
- p.Pro152Ser Single submitter Inborn genetic diseases ⚠
- p.Ser26= Single submitter epidermolysis bullosa simplex
- p.Ser312Tyr Single submitter Inborn genetic diseases
- p.Ser497Arg Single submitter Inborn genetic diseases ⚠
- p.Ser50Thr Single submitter Inborn genetic diseases ⚠
- p.Ser535Arg Single submitter Inborn genetic diseases ⚠
- p.Ser567Cys Single submitter Inborn genetic diseases ⚠
- p.Ser573Phe Single submitter Inborn genetic diseases ⚠
- p.Ser582Phe Single submitter Inborn genetic diseases ⚠
- p.Ser62Gly Single submitter Inborn genetic diseases ⚠
- p.Thr174Ile Single submitter Inborn genetic diseases ⚠
- p.Thr19Ile Single submitter Inborn genetic diseases ⚠
- p.Thr24= Single submitter epidermolysis bullosa simplex
- p.Thr24Ser Single submitter Inborn genetic diseases ⚠
- p.Thr495Ile Single submitter ⚠
- p.Tyr365Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr95Cys Single submitter ⚠
- p.Val186Gly Single submitter ⚠
- p.Val234= Single submitter epidermolysis bullosa simplex
- p.Val293Ile Single submitter epidermolysis bullosa simplex
- p.Val563fs Single submitter
- c.1474+5G>A No assertion criteria KRT5-related disorder
- c.831+5G>A No assertion criteria KRT5-related disorder
- p.Arg585Gln No assertion criteria KRT5-related disorder ⚠