LAMB3 — 1470 ClinVar variants

All ClinVar germline LAMB3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 343 flagged for review →

128 Pathogenic · 33 Pathogenic/Likely pathogenic · 135 Likely pathogenic · 44 Conflicting · 69 Benign · 10 Benign/Likely benign · 692 Likely benign · 359 Uncertain significance

Full LAMB3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 343

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 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

LAMB3 p.Glu210Lys Pathogenic/Likely pathogenic Multiple submitters
junctional epidermolysis bullosa, non-Herlitz type
LAMB3 p.Lys207Gln Pathogenic No assertion criteria
junctional epidermolysis bullosa, non-Herlitz type

Predictors agree, ClinVar conflicts 20

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

LAMB3 p.Ala596Ser Conflicting Single submitter
Inborn genetic diseases
LAMB3 p.Ala621Val Conflicting Single submitter
Inborn genetic diseases
LAMB3 p.Ala642Thr Conflicting Single submitter
Inborn genetic diseases
LAMB3 p.Arg183Cys Conflicting Single submitter
junctional epidermolysis bullosa
LAMB3 p.Arg183His Conflicting Single submitter
junctional epidermolysis bullosa
LAMB3 p.Arg23His Conflicting Single submitter
Inborn genetic diseases
LAMB3 p.Arg292Leu Conflicting Single submitter
Inborn genetic diseases
LAMB3 p.Arg364Trp Conflicting Single submitter
junctional epidermolysis bullosa
LAMB3 p.Arg39Gln Conflicting Single submitter
Inborn genetic diseases
LAMB3 p.Arg517Cys Conflicting Single submitter
junctional epidermolysis bullosa
LAMB3 p.Arg539Gln Conflicting Single submitter
Inborn genetic diseases
LAMB3 p.Asp111Gly Conflicting Single submitter
Inborn genetic diseases
LAMB3 p.Asp982Gly Conflicting Single submitter
amelogenesis imperfecta type 1A
LAMB3 p.Gly978Ala Conflicting Single submitter
Inborn genetic diseases
LAMB3 p.His1160Arg Conflicting Single submitter
amelogenesis imperfecta type 1A
LAMB3 p.Leu559Phe Conflicting Single submitter
Inborn genetic diseases
LAMB3 p.Met1123Lys Conflicting Single submitter
junctional epidermolysis bullosa
LAMB3 p.Phe4Leu Conflicting Single submitter
Inborn genetic diseases
LAMB3 p.Pro261Ala Conflicting Single submitter
LAMB3 p.Gly199Ala Conflicting No assertion criteria
junctional epidermolysis bullosa, non-Herlitz type

Predictors lean, ClinVar uncertain 249

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 249

LAMB3 p.Ala1071Thr Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Ala1145Val Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Ala330Thr Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Ala330Val Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Ala590Val Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Ala825Thr Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Ala832Val Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Ala855Gly Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Arg1006Leu Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Arg1009Trp Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Arg1023Gln Uncertain significance Multiple submitters
amelogenesis imperfecta type 1A
LAMB3 p.Arg1023Trp Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Arg1051Gln Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Arg1135Gln Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Arg159Trp Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Arg258His Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Arg366Trp Uncertain significance Multiple submitters
LAMB3 p.Arg522Gln Uncertain significance Multiple submitters
junctional epidermolysis bullosa
LAMB3 p.Arg539Trp Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Arg574His Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Arg603Cys Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Arg623Gln Uncertain significance Multiple submitters
amelogenesis imperfecta type 1A
LAMB3 p.Arg81Gln Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Arg958His Uncertain significance Multiple submitters
junctional epidermolysis bullosa Herlitz type
LAMB3 p.Arg988Gln Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Asn345His Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Asn944Ser Uncertain significance Multiple submitters
junctional epidermolysis bullosa
LAMB3 p.Cys316Tyr Uncertain significance Multiple submitters
junctional epidermolysis bullosa, non-Herlitz type
LAMB3 p.Gln19Lys Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Gln880His Uncertain significance Multiple submitters
junctional epidermolysis bullosa
LAMB3 p.Glu446Lys Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Gly130Cys Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Gly186Glu Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Gly254Asp Uncertain significance Multiple submitters
junctional epidermolysis bullosa, non-Herlitz type
LAMB3 p.Gly691Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.His276Gln Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Ile516Val Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Ile799Met Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Leu921Met Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Met194Ile Uncertain significance Multiple submitters
junctional epidermolysis bullosa Herlitz type
LAMB3 p.Met774Leu Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Phe506Ile Uncertain significance Multiple submitters
junctional epidermolysis bullosa
LAMB3 p.Pro368Leu Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Pro415Leu Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Pro443Leu Uncertain significance Multiple submitters
junctional epidermolysis bullosa
LAMB3 p.Pro485Leu Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Pro544Leu Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Pro679Leu Uncertain significance Multiple submitters
junctional epidermolysis bullosa Herlitz type
LAMB3 p.Pro807Thr Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Pro91Thr Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Ser236Thr Uncertain significance Multiple submitters
junctional epidermolysis bullosa
LAMB3 p.Thr1110Ile Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Val1021Leu Uncertain significance Multiple submitters
junctional epidermolysis bullosa
LAMB3 p.Val1108Gly Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Val400Leu Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Val916Met Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Ala1057Thr Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Ala1064Val Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Ala1074Ser Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Ala1074Val Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Ala10Pro Uncertain significance Single submitter
LAMB3 p.Ala1112Thr Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Ala1139Val Uncertain significance Single submitter
junctional epidermolysis bullosa
LAMB3 p.Ala17Thr Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Ala20Val Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Ala25Val Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Ala334Thr Uncertain significance Single submitter
LAMB3 p.Ala390Ser Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Ala423Thr Uncertain significance Single submitter
junctional epidermolysis bullosa
LAMB3 p.Ala43Val Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Ala596Val Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Ala607Gly Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Ala729Thr Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Ala836Val Uncertain significance Single submitter
LAMB3 p.Ala855Val Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Ala867Thr Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg1006His Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg1009Gln Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg1009Leu Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg1042Gln Uncertain significance Single submitter
LAMB3 p.Arg1091Gln Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg1091Gly Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg1091Trp Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg113Ser Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg1143Cys Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg1143His Uncertain significance Single submitter
LAMB3 p.Arg1153Ser Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg1164His Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg159Gln Uncertain significance Single submitter
LAMB3 p.Arg161His Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg161Leu Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg179Lys Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg300Gln Uncertain significance Single submitter
LAMB3 p.Arg347Gln Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg357Gln Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg364Gln Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg42Gln Uncertain significance Single submitter
LAMB3 p.Arg450His Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg517His Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg552His Uncertain significance Single submitter
junctional epidermolysis bullosa Herlitz type
LAMB3 p.Arg569Gln Uncertain significance Single submitter
LAMB3 p.Arg569Pro Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg598His Uncertain significance Single submitter
junctional epidermolysis bullosa
LAMB3 p.Arg603His Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg623Trp Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg737Ser Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg746Gln Uncertain significance Single submitter
LAMB3 p.Arg746Trp Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg747Ser Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg819Ser Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg878Cys Uncertain significance Single submitter
junctional epidermolysis bullosa, non-Herlitz type
LAMB3 p.Arg878His Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg887His Uncertain significance Single submitter
LAMB3 p.Arg889Gln Uncertain significance Single submitter
LAMB3 p.Arg889Gly Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg896Gln Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg93His Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg960His Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Asn102Lys Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Asn319Ser Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Asn487Ser Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Asn573Ser Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Asn843Lys Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Asp111Asn Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Asp1146Tyr Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Asp152Asn Uncertain significance Single submitter
LAMB3 p.Asp152Val Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Asp277Asn Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Asp277Gly Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Asp317Asn Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Asp328Gly Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Asp384Asn Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Asp484Asn Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Asp626Gly Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Asp668Asn Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Asp734Asn Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Asp740Asn Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Asp905Glu Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Cys325Arg Uncertain significance Single submitter
LAMB3 p.Cys355Gly Uncertain significance Single submitter
LAMB3 p.Cys358Arg Uncertain significance Single submitter
LAMB3 p.Cys413Arg Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Cys444Arg Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Cys493Arg Uncertain significance Single submitter
LAMB3 p.Cys546Arg Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Cys578Trp Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Cys578Tyr Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Gln1052Lys Uncertain significance Single submitter
junctional epidermolysis bullosa
LAMB3 p.Gln1094Lys Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Gln373Arg Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 72

The independent predictors disagree with each other — read with care.

LAMB3 p.Arg1006Cys Uncertain significance Multiple submitters
junctional epidermolysis bullosa
LAMB3 p.Arg1042Trp Likely benign Multiple submitters
amelogenesis imperfecta type 1A
LAMB3 p.Arg1051Trp Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Arg135His Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Arg300Trp Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Arg430Cys Uncertain significance Multiple submitters
junctional epidermolysis bullosa
LAMB3 p.Arg552Cys Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Arg618Cys Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Arg848Trp Benign Multiple submitters
junctional epidermolysis bullosa
LAMB3 p.Arg889Trp Uncertain significance Multiple submitters
junctional epidermolysis bullosa
LAMB3 p.Arg988Trp Uncertain significance Multiple submitters
amelogenesis imperfecta type 1A
LAMB3 p.Gly287Ser Uncertain significance Multiple submitters
junctional epidermolysis bullosa
LAMB3 p.Gly475Ser Uncertain significance Multiple submitters
amelogenesis imperfecta type 1A
LAMB3 p.Leu224Pro Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Met932Thr Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Pro304Leu Uncertain significance Multiple submitters
junctional epidermolysis bullosa
LAMB3 p.Pro576Leu Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Tyr27His Uncertain significance Multiple submitters
Inborn genetic diseases
LAMB3 p.Ala1057Gly Uncertain significance Single submitter
junctional epidermolysis bullosa Herlitz type
LAMB3 p.Ala1071Glu Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Ala1071Pro Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Ala596Pro Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg1047Cys Uncertain significance Single submitter
LAMB3 p.Arg1135Trp Uncertain significance Single submitter
LAMB3 p.Arg1153Cys Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg135Cys Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg164Trp Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg172Gln Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg172Trp Uncertain significance Single submitter
LAMB3 p.Arg357Trp Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg39Trp Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg556His Conflicting Single submitter
Inborn genetic diseases
LAMB3 p.Arg593Trp Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg598Cys Uncertain significance Single submitter
LAMB3 p.Arg660Pro Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg700Gly Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg716Trp Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg81Pro Uncertain significance Single submitter
LAMB3 p.Arg840Trp Uncertain significance Single submitter
LAMB3 p.Arg869Cys Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg887Cys Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg960Cys Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Arg961Trp Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Asn424His Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Asn494Lys Uncertain significance Single submitter
junctional epidermolysis bullosa, non-Herlitz type
LAMB3 p.Asp484Tyr Uncertain significance Single submitter
junctional epidermolysis bullosa
LAMB3 p.Asp547Asn Uncertain significance Single submitter
LAMB3 p.Cys67Phe Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Gln73Pro Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Glu351Lys Conflicting Single submitter
amelogenesis imperfecta type 1A
LAMB3 p.Gly13Asp Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Gly186Trp Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Gly31Glu Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Gly508Ser Uncertain significance Single submitter
LAMB3 p.Gly525Ala Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Gly820Ser Uncertain significance Single submitter
LAMB3 p.Gly990Arg Uncertain significance Single submitter
junctional epidermolysis bullosa
LAMB3 p.His253Arg Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.His582Arg Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Leu752Pro Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Leu917Pro Uncertain significance Single submitter
LAMB3 p.Lys65Thr Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Phe1039Leu Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Pro103Ser Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Pro158Ser Uncertain significance Single submitter
LAMB3 p.Pro576Arg Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Ser657Tyr Uncertain significance Single submitter
junctional epidermolysis bullosa
LAMB3 p.Ser733Phe Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Thr952Asn Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Tyr1085Cys Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Tyr696Cys Uncertain significance Single submitter
Inborn genetic diseases
LAMB3 p.Val85Ala Uncertain significance Single submitter
Inborn genetic diseases

All LAMB3 variants

Pathogenic 128

c.1133-22G>A Multiple submitters amelogenesis imperfecta type 1A
c.3228+1G>A Multiple submitters junctional epidermolysis bullosa Herlitz type
c.565-1G>A Multiple submitters
c.565-2A>G Multiple submitters junctional epidermolysis bullosa
c.823-1G>A Multiple submitters junctional epidermolysis bullosa
c.823-1G>T Multiple submitters junctional epidermolysis bullosa Herlitz type
p.Ala1064Ter Multiple submitters junctional epidermolysis bullosa, non-Herlitz type
p.Arg144Ter Multiple submitters junctional epidermolysis bullosa
p.Arg42Ter Multiple submitters LAMB3-related disorder
p.Arg569Ter Multiple submitters LAMB3-related disorder
p.Arg635Ter Multiple submitters LAMB3-related disorder
p.Arg660Ter Multiple submitters amelogenesis imperfecta type 1A
p.Arg81Ter Multiple submitters amelogenesis imperfecta type 1A
p.Asn345fs Multiple submitters LAMB3-related disorder
p.Cys546fs Multiple submitters junctional epidermolysis bullosa, non-Herlitz type
p.Glu446Ter Multiple submitters junctional epidermolysis bullosa
p.Gly530fs Multiple submitters junctional epidermolysis bullosa, non-Herlitz type
p.Gly757Ter Multiple submitters junctional epidermolysis bullosa
p.Gly763fs Multiple submitters junctional epidermolysis bullosa Herlitz type
p.His326fs Multiple submitters junctional epidermolysis bullosa Herlitz type
p.Lys705_Ile706insTer Multiple submitters junctional epidermolysis bullosa Herlitz type
p.Ser167fs Multiple submitters junctional epidermolysis bullosa Herlitz type
p.Thr783fs Multiple submitters junctional epidermolysis bullosa Herlitz type
p.Thr923fs Multiple submitters
p.Trp95Ter Multiple submitters LAMB3-related disorder
p.Tyr339Ter Multiple submitters amelogenesis imperfecta type 1A
p.Val948fs Multiple submitters amelogenesis imperfecta type 1A
c.1288+1G>A Single submitter junctional epidermolysis bullosa Herlitz type
c.1288+2T>A Single submitter
c.1289-2_1296del Single submitter Abnormality of the skin
c.2910-1G>A Single submitter
c.3228+2T>A Single submitter
c.565-1G>C Single submitter
c.629-12T>A Single submitter
c.823-2A>T Single submitter
p.Ala1050fs Single submitter
p.Ala386fs Single submitter
p.Ala605fs Single submitter
p.Arg1009fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Arg1080fs Single submitter
p.Arg223fs Single submitter
p.Arg430fs Single submitter
p.Arg598fs Single submitter
p.Arg887delinsAlaTrpArgProArgTer Single submitter
p.Arg941fs Single submitter
p.Arg958fs Single submitter
p.Asp344fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Asp70fs Single submitter
p.Asp905Ter Single submitter
p.Cys313Ter Single submitter
p.Cys343_Asp344delinsTer Single submitter
p.Cys431_Asp432delinsTer Single submitter
p.Cys478fs Single submitter
p.Cys483Ter Single submitter
p.Cys500Ter Single submitter
p.Cys531Ter Single submitter
p.Cys553fs Single submitter
p.Cys818Ter Single submitter
p.Gln1083Ter Single submitter epidermolysis bullosa
p.Gln124Ter Single submitter
p.Gln162Ter Single submitter
p.Gln166Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Gln18Ter Single submitter
p.Gln19Ter Single submitter
p.Gln206Ter Single submitter
p.Gln308Ter Single submitter
p.Gln359Ter Single submitter
p.Gln518Ter Single submitter
p.Gln633Ter Single submitter
p.Gln650Ter Single submitter
p.Gln730Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Gln73Ter Single submitter
p.Gln808Ter Single submitter
p.Gln845Ter Single submitter
p.Gln851Ter Single submitter
p.Gln930Ter Single submitter
p.Gln936Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Gln951Ter Single submitter
p.Gln995Ter Single submitter
p.Glu122Ter Single submitter
p.Glu323Ter Single submitter
p.Glu616Ter Single submitter
p.Glu647Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Glu672fs Single submitter
p.Glu683fs Single submitter junctional epidermolysis bullosa
p.Glu871fs Single submitter
p.Glu882Ter Single submitter
p.Gly540fs Single submitter
p.Gly545fs Single submitter junctional epidermolysis bullosa
p.Gly759Ter Single submitter
p.Gly827fs Single submitter
p.Ile634fs Single submitter
p.Leu108Pro Single submitter junctional epidermolysis bullosa
p.Leu110fs Single submitter
p.Leu839fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Lys1027Ter Single submitter
p.Lys402fs Single submitter junctional epidermolysis bullosa
p.Pro103fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Pro269fs Single submitter
p.Pro288fs Single submitter
p.Pro391fs Single submitter
p.Pro480fs Single submitter junctional epidermolysis bullosa
p.Pro52fs Single submitter
p.Pro74fs Single submitter
p.Pro765_Lys766insTer Single submitter
p.Ser205fs Single submitter
p.Ser448fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Ser608fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Thr142fs Single submitter
p.Thr271fs Single submitter
p.Trp168Ter Single submitter
p.Trp302Ter Single submitter
p.Trp610Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Trp94Ter Single submitter
p.Tyr232Ter Single submitter
p.Tyr422Ter Single submitter
p.Tyr722Ter Single submitter
p.Val768fs Single submitter
p.Val992fs Single submitter
c.565-3T>C No assertion criteria junctional epidermolysis bullosa, non-Herlitz type
c.629-1G>A No assertion criteria junctional epidermolysis bullosa, non-Herlitz type
p.? No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Glu1114Ter No assertion criteria amelogenesis imperfecta type 1A
p.Glu1132fs No assertion criteria amelogenesis imperfecta type 1A
p.Glu1155fs No assertion criteria amelogenesis imperfecta
p.Lys207Gln No assertion criteria junctional epidermolysis bullosa, non-Herlitz type ⚠
p.Ser1144Ter No assertion criteria amelogenesis imperfecta type 1A
p.Trp302fs No assertion criteria junctional epidermolysis bullosa, non-Herlitz type

Pathogenic/Likely pathogenic 33

c.1132+5G>A Multiple submitters amelogenesis imperfecta type 1A
c.1288+1G>T Multiple submitters junctional epidermolysis bullosa Herlitz type
c.2911_2938del Multiple submitters junctional epidermolysis bullosa Herlitz type
c.3383-1G>A Multiple submitters LAMB3-related disorder
c.628+1G>A Multiple submitters junctional epidermolysis bullosa
c.823-2A>C Multiple submitters LAMB3-related disorder
p.Ala1055fs Multiple submitters junctional epidermolysis bullosa Herlitz type
p.Ala832fs Multiple submitters amelogenesis imperfecta type 1A
p.Arg532Ter Multiple submitters junctional epidermolysis bullosa Herlitz type
p.Arg972Ter Multiple submitters junctional epidermolysis bullosa Herlitz type
p.Asn456fs Multiple submitters amelogenesis imperfecta type 1A
p.Cys293Ser Multiple submitters junctional epidermolysis bullosa
p.Cys316Ter Multiple submitters junctional epidermolysis bullosa Herlitz type
p.Cys325Ter Multiple submitters junctional epidermolysis bullosa Herlitz type
p.Cys355Arg Multiple submitters junctional epidermolysis bullosa
p.Cys453fs Multiple submitters junctional epidermolysis bullosa Herlitz type
p.Cys788fs Multiple submitters junctional epidermolysis bullosa Herlitz type
p.Gln1012Ter Multiple submitters junctional epidermolysis bullosa Herlitz type
p.Gln117Ter Multiple submitters LAMB3-related disorder
p.Gln243Ter Multiple submitters junctional epidermolysis bullosa Herlitz type
p.Gln373Ter Multiple submitters junctional epidermolysis bullosa
p.Gln476Ter Multiple submitters junctional epidermolysis bullosa Herlitz type
p.Gln568Ter Multiple submitters junctional epidermolysis bullosa Herlitz type
p.Glu210Lys Multiple submitters junctional epidermolysis bullosa, non-Herlitz type ⚠
p.Glu748Ter Multiple submitters amelogenesis imperfecta type 1A
p.Gly558_Leu559insTer Multiple submitters junctional epidermolysis bullosa Herlitz type
p.Ile208fs Multiple submitters junctional epidermolysis bullosa Herlitz type
p.Leu11fs Multiple submitters junctional epidermolysis bullosa Herlitz type
p.Leu671fs Multiple submitters epidermolysis bullosa simplex 1A, generalized severe
p.Ser155fs Multiple submitters amelogenesis imperfecta type 1A
p.Trp1040Ter Multiple submitters junctional epidermolysis bullosa
p.Trp143Ter Multiple submitters junctional epidermolysis bullosa Herlitz type
p.Tyr146fs Multiple submitters amelogenesis imperfecta type 1A

Likely pathogenic 135

c.1486-1G>A Multiple submitters junctional epidermolysis bullosa
c.1597+1G>T Multiple submitters junctional epidermolysis bullosa Herlitz type
c.2138-1G>A Multiple submitters
c.2685_2701+2del Multiple submitters junctional epidermolysis bullosa
c.2701+2T>C Multiple submitters junctional epidermolysis bullosa Herlitz type
c.28+1G>T Multiple submitters amelogenesis imperfecta type 1A
c.628+2T>A Multiple submitters junctional epidermolysis bullosa, non-Herlitz type
p.Cys325fs Multiple submitters junctional epidermolysis bullosa, non-Herlitz type
p.Gln586Ter Multiple submitters junctional epidermolysis bullosa Herlitz type
p.Met1Ile Multiple submitters LAMB3-related disorder
c.1132+1G>A Single submitter
c.1133-2A>G Single submitter
c.1289-2A>G Single submitter
c.1485+1G>A Single submitter junctional epidermolysis bullosa Herlitz type
c.1485+1G>C Single submitter
c.1597+1G>A Single submitter
c.1598-1G>T Single submitter junctional epidermolysis bullosa, non-Herlitz type
c.183+1G>A Single submitter
c.184-1G>A Single submitter
c.1976+1G>A Single submitter
c.1977-1G>A Single submitter
c.1977-2A>C Single submitter junctional epidermolysis bullosa
c.2137+1G>T Single submitter
c.2137+2T>A Single submitter
c.2358+1G>A Single submitter
c.2557-1G>C Single submitter
c.2557-2A>C Single submitter junctional epidermolysis bullosa Herlitz type
c.28+2dup Single submitter junctional epidermolysis bullosa Herlitz type
c.29-2A>G Single submitter junctional epidermolysis bullosa Herlitz type
c.298+1G>A Single submitter
c.3382+1G>A Single submitter amelogenesis imperfecta type 1A
c.372+1G>C Single submitter junctional epidermolysis bullosa Herlitz type
c.372+2T>G Single submitter amelogenesis imperfecta type 1A
c.564+1G>A Single submitter
c.822+2T>G Single submitter
c.943+1G>A Single submitter
c.943+1G>C Single submitter
c.943+2T>G Single submitter
p.Ala129fs Single submitter junctional epidermolysis bullosa
p.Ala25fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Ala828fs Single submitter junctional epidermolysis bullosa
p.Ala926fs Single submitter junctional epidermolysis bullosa
p.Arg440fs Single submitter junctional epidermolysis bullosa
p.Arg792fs Single submitter LAMB3-related disorder
p.Asp393fs Single submitter amelogenesis imperfecta type 1A
p.Asp626fs Single submitter junctional epidermolysis bullosa
p.Asp903fs Single submitter junctional epidermolysis bullosa
p.Cys1171Ter Single submitter LAMB3-related disorder
p.Cys153Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Cys173Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Cys26fs Single submitter junctional epidermolysis bullosa
p.Cys290Ser Single submitter LAMB3-related disorder
p.Cys376Ser Single submitter
p.Cys381Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Cys401fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Cys433fs Single submitter epidermolysis bullosa
p.Cys493Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Cys555Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Gln1002Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Gln1012fs Single submitter junctional epidermolysis bullosa
p.Gln1019Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Gln166fs Single submitter junctional epidermolysis bullosa
p.Gln178Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Gln190Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Gln314Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Gln398fs Single submitter
p.Gln398Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Gln492Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Gln566fs Single submitter
p.Gln595Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Gln697fs Single submitter junctional epidermolysis bullosa
p.Gln808fs Single submitter junctional epidermolysis bullosa
p.Gln893fs Single submitter junctional epidermolysis bullosa
p.Gln998Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Glu1044Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Glu1076Ter Single submitter junctional epidermolysis bullosa
p.Glu479Ter Single submitter junctional epidermolysis bullosa
p.Glu504Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Glu934fs Single submitter junctional epidermolysis bullosa
p.Gly1003= Single submitter junctional epidermolysis bullosa
p.Gly1102fs Single submitter amelogenesis imperfecta type 1A
p.Gly1149fs Single submitter amelogenesis imperfecta type 1A
p.His253fs Single submitter junctional epidermolysis bullosa
p.His469_Trp470insTer Single submitter junctional epidermolysis bullosa Herlitz type
p.His75fs Single submitter junctional epidermolysis bullosa
p.His80fs Single submitter junctional epidermolysis bullosa
p.Leu149fs Single submitter junctional epidermolysis bullosa
p.Leu41fs Single submitter junctional epidermolysis bullosa
p.Lys141Ter Single submitter junctional epidermolysis bullosa
p.Lys262Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Lys402Ter Single submitter junctional epidermolysis bullosa
p.Lys68Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Met127fs Single submitter junctional epidermolysis bullosa
p.Met1Leu Single submitter junctional epidermolysis bullosa Herlitz type
p.Phe327fs Single submitter junctional epidermolysis bullosa
p.Pro177fs Single submitter junctional epidermolysis bullosa
p.Pro491fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Ser105fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Ser776Ter Single submitter junctional epidermolysis bullosa
p.Ser861Ter Single submitter Abnormality of the skin
p.Ser865fs Single submitter junctional epidermolysis bullosa
p.Thr285fs Single submitter junctional epidermolysis bullosa
p.Tyr148Ter Single submitter junctional epidermolysis bullosa
p.Tyr238Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Tyr27Ter Single submitter junctional epidermolysis bullosa
p.Val1021fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Val227fs Single submitter
p.Val753fs Single submitter junctional epidermolysis bullosa
p.Val976fs Single submitter amelogenesis imperfecta type 1A
c.1283_1288+14del No assertion criteria junctional epidermolysis bullosa Herlitz type
c.183+2T>C No assertion criteria junctional epidermolysis bullosa Herlitz type
c.2358+2T>C No assertion criteria junctional epidermolysis bullosa Herlitz type
c.2556+1G>A No assertion criteria junctional epidermolysis bullosa Herlitz type
c.2701+1G>A No assertion criteria junctional epidermolysis bullosa Herlitz type
c.298+2T>C No assertion criteria junctional epidermolysis bullosa Herlitz type
c.3052-1G>A No assertion criteria junctional epidermolysis bullosa Herlitz type
c.373-2A>G No assertion criteria junctional epidermolysis bullosa Herlitz type
c.565-1G>T No assertion criteria junctional epidermolysis bullosa Herlitz type
c.565-2A>C No assertion criteria junctional epidermolysis bullosa Herlitz type
c.943+2T>A No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Ala728fs No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Cys290Ter No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Cys343Ter No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Cys355_Glu356delinsTer No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Gln147Ter No assertion criteria LAMB3-related disorder
p.Gln169Ter No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Gln336fs No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Gln702_Phe703insTer No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Gln724Ter No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Gly307fs No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Lys1084fs No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Lys188fs No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Ser800fs No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Ter1173MetextTer? No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Tyr297Ter No assertion criteria junctional epidermolysis bullosa, non-Herlitz type

Conflicting classifications of pathogenicity 44

c.2556+7G>A Single submitter
c.298+5G>C Single submitter junctional epidermolysis bullosa Herlitz type
c.3051+9T>C Single submitter junctional epidermolysis bullosa
c.373-15C>T Single submitter junctional epidermolysis bullosa
p.Ala596Ser Single submitter Inborn genetic diseases ⚠
p.Ala621Val Single submitter Inborn genetic diseases ⚠
p.Ala642Thr Single submitter Inborn genetic diseases ⚠
p.Ala825= Single submitter junctional epidermolysis bullosa
p.Arg135= Single submitter junctional epidermolysis bullosa, non-Herlitz type
p.Arg183Cys Single submitter junctional epidermolysis bullosa ⚠
p.Arg183His Single submitter junctional epidermolysis bullosa ⚠
p.Arg23His Single submitter Inborn genetic diseases ⚠
p.Arg292= Single submitter junctional epidermolysis bullosa
p.Arg292Leu Single submitter Inborn genetic diseases ⚠
p.Arg364Trp Single submitter junctional epidermolysis bullosa ⚠
p.Arg39Gln Single submitter Inborn genetic diseases ⚠
p.Arg517Cys Single submitter junctional epidermolysis bullosa ⚠
p.Arg539Gln Single submitter Inborn genetic diseases ⚠
p.Arg556His Single submitter Inborn genetic diseases ⚠
p.Asp111Gly Single submitter Inborn genetic diseases ⚠
p.Asp309= Single submitter junctional epidermolysis bullosa
p.Asp734= Single submitter junctional epidermolysis bullosa
p.Asp982Gly Single submitter amelogenesis imperfecta type 1A ⚠
p.Cys259= Single submitter junctional epidermolysis bullosa, non-Herlitz type
p.Cys578= Single submitter junctional epidermolysis bullosa
p.Gln336= Single submitter junctional epidermolysis bullosa
p.Glu351Lys Single submitter amelogenesis imperfecta type 1A ⚠
p.Glu882= Single submitter junctional epidermolysis bullosa
p.Gly978Ala Single submitter Inborn genetic diseases ⚠
p.His1160Arg Single submitter amelogenesis imperfecta type 1A ⚠
p.Leu420Val Single submitter Inborn genetic diseases
p.Leu559Phe Single submitter Inborn genetic diseases ⚠
p.Lys766= Single submitter junctional epidermolysis bullosa
p.Met1123Lys Single submitter junctional epidermolysis bullosa ⚠
p.Phe4Leu Single submitter Inborn genetic diseases ⚠
p.Phe5= Single submitter junctional epidermolysis bullosa
p.Pro261Ala Single submitter ⚠
p.Ser1068= Single submitter junctional epidermolysis bullosa
p.Ser512= Single submitter junctional epidermolysis bullosa
p.Ser719= Single submitter junctional epidermolysis bullosa
p.Thr271= Single submitter junctional epidermolysis bullosa
p.Trp470Ter Single submitter junctional epidermolysis bullosa, non-Herlitz type
c.628+42G>A No assertion criteria junctional epidermolysis bullosa, non-Herlitz type
p.Gly199Ala No assertion criteria junctional epidermolysis bullosa, non-Herlitz type ⚠

Benign 69

c.1132+124G>A Multiple submitters
c.1133-172A>G Multiple submitters
c.1133-34T>C Multiple submitters
c.1288+29G>A Multiple submitters
c.1289-150C>T Multiple submitters
c.1289-186G>A Multiple submitters junctional epidermolysis bullosa, non-Herlitz type
c.1289-52G>A Multiple submitters junctional epidermolysis bullosa, non-Herlitz type
c.1486-18G>A Multiple submitters amelogenesis imperfecta type 1A
c.184-70A>G Multiple submitters junctional epidermolysis bullosa Herlitz type
c.1976+169T>C Multiple submitters junctional epidermolysis bullosa, non-Herlitz type
c.1976+222C>T Multiple submitters
c.2359-15G>A Multiple submitters junctional epidermolysis bullosa
c.2556+13G>A Multiple submitters junctional epidermolysis bullosa
c.2556+60C>T Multiple submitters junctional epidermolysis bullosa Herlitz type
c.2702-12dup Multiple submitters junctional epidermolysis bullosa, non-Herlitz type
c.2702-14G>A Multiple submitters junctional epidermolysis bullosa
c.28+163C>G Multiple submitters
c.28+88G>A Multiple submitters
c.298+50T>A Multiple submitters amelogenesis imperfecta type 1A
c.3383-58G>A Multiple submitters
c.372+10C>T Multiple submitters junctional epidermolysis bullosa
c.564+10G>A Multiple submitters junctional epidermolysis bullosa
c.822+33G>C Multiple submitters amelogenesis imperfecta type 1A
c.823-15C>T Multiple submitters amelogenesis imperfecta type 1A
c.943+18C>A Multiple submitters
c.943+52C>G Multiple submitters
c.-37-381T>A Multiple submitters
c.-37-500C>T Multiple submitters
c.*102C>T Multiple submitters amelogenesis imperfecta type 1A
p.Ala926Asp Multiple submitters amelogenesis imperfecta type 1A
p.Arg754Trp Multiple submitters junctional epidermolysis bullosa
p.Arg848Trp Multiple submitters junctional epidermolysis bullosa ⚠
p.Asn690Ser Multiple submitters amelogenesis imperfecta type 1A
p.Cys572= Multiple submitters amelogenesis imperfecta type 1A
p.Leu891= Multiple submitters amelogenesis imperfecta type 1A
p.Met852Leu Multiple submitters amelogenesis imperfecta type 1A
p.Pro383= Multiple submitters junctional epidermolysis bullosa
p.Ser1144= Multiple submitters amelogenesis imperfecta type 1A
p.Ser438Thr Multiple submitters junctional epidermolysis bullosa
p.Ser708= Multiple submitters amelogenesis imperfecta type 1A
p.Ser97= Multiple submitters amelogenesis imperfecta type 1A
p.Thr46= Multiple submitters amelogenesis imperfecta type 1A
p.Tyr339His Multiple submitters junctional epidermolysis bullosa
p.Tyr588= Multiple submitters junctional epidermolysis bullosa
p.Val527Met Multiple submitters amelogenesis imperfecta type 1A
c.184-286A>G Single submitter
c.184-335C>T Single submitter
c.184-335del Single submitter
c.2138-20C>T Single submitter
c.2702-12G>A Single submitter
c.2702-9dup Single submitter
c.28+292G>A Single submitter
c.28+326C>T Single submitter
c.2909+182C>T Single submitter
c.2909+194C>T Single submitter
c.2910-115C>T Single submitter
c.2910-169G>A Single submitter
c.3383-334C>T Single submitter
c.372+16dup Single submitter
c.564+250C>T Single submitter
c.564+286C>T Single submitter
c.822+296A>T Single submitter
c.823-7del Single submitter
c.-37-26A>T Single submitter
c.-37-573C>T Single submitter
c.-38+328A>G Single submitter
p.Ala926Gly Single submitter
p.Arg869Ser Single submitter
p.Lys1084= Single submitter

Benign/Likely benign 10

c.943+18_943+19insA Multiple submitters
p.Arg230Thr Multiple submitters junctional epidermolysis bullosa
p.Asn289= Multiple submitters junctional epidermolysis bullosa
p.Cys801= Multiple submitters junctional epidermolysis bullosa
p.Gln398= Multiple submitters junctional epidermolysis bullosa
p.Lys471= Multiple submitters junctional epidermolysis bullosa
p.Pro480Leu Multiple submitters junctional epidermolysis bullosa
p.Thr396= Multiple submitters junctional epidermolysis bullosa
p.Thr762= Multiple submitters junctional epidermolysis bullosa
p.Thr908Ile Multiple submitters junctional epidermolysis bullosa

Likely benign 692

Showing the top 300 by review status; the full set is in the sitemap.

c.2138-24C>T Multiple submitters
c.2359-16C>T Multiple submitters
c.2702-15C>T Multiple submitters
c.298+19C>T Multiple submitters
c.3228+10A>C Multiple submitters
c.3228+11G>A Multiple submitters
c.822+9C>T Multiple submitters
p.Ala10= Multiple submitters
p.Ala1145= Multiple submitters
p.Arg1042Trp Multiple submitters amelogenesis imperfecta type 1A ⚠
p.Arg23Cys Multiple submitters junctional epidermolysis bullosa
p.Arg245His Multiple submitters junctional epidermolysis bullosa
p.Arg716Gln Multiple submitters
p.Asp445= Multiple submitters Inborn genetic diseases
p.Cys483= Multiple submitters Inborn genetic diseases
p.Glu374= Multiple submitters
p.Gly449= Multiple submitters
p.Ile214= Multiple submitters
p.Leu224= Multiple submitters
p.Phe139= Multiple submitters
p.Ser733= Multiple submitters
p.Ser875= Multiple submitters
p.Thr350= Multiple submitters
p.Thr560= Multiple submitters
p.Tyr55= Multiple submitters
c.1132+12C>T Single submitter
c.1132+15C>T Single submitter
c.1132+16G>A Single submitter
c.1132+19G>C Single submitter
c.1132+7A>G Single submitter
c.1132+8G>A Single submitter
c.1133-11T>C Single submitter
c.1133-11T>G Single submitter
c.1133-16T>G Single submitter
c.1133-30C>G Single submitter
c.1133-9G>T Single submitter
c.1288+10G>A Single submitter
c.1288+12G>A Single submitter
c.1288+12G>T Single submitter
c.1288+14T>A Single submitter
c.1288+19C>G Single submitter
c.1288+20C>A Single submitter
c.1288+9G>A Single submitter
c.1289-10C>T Single submitter
c.1289-14C>G Single submitter
c.1289-14C>T Single submitter
c.1289-15G>T Single submitter
c.1289-19A>C Single submitter
c.1289-4G>T Single submitter
c.1289-7C>T Single submitter
c.1289-8T>C Single submitter
c.1289-9C>T Single submitter
c.1485+10G>A Single submitter
c.1485+10G>T Single submitter
c.1485+12G>A Single submitter
c.1485+16G>T Single submitter
c.1485+20C>T Single submitter
c.1485+7A>C Single submitter
c.1485+8G>A Single submitter
c.1486-10C>T Single submitter
c.1486-12C>G Single submitter
c.1486-19C>T Single submitter
c.1486-4G>A Single submitter
c.1486-4G>T Single submitter
c.1486-5C>T Single submitter
c.1486-6A>G Single submitter
c.1486-6A>T Single submitter
c.1486-7C>T Single submitter
c.1486-8C>T Single submitter
c.1486-9C>A Single submitter
c.1597+10C>G Single submitter
c.1597+11A>T Single submitter
c.1597+17T>A Single submitter
c.1598-12T>C Single submitter
c.1598-14T>G Single submitter
c.1598-4C>T Single submitter
c.1598-5C>T Single submitter
c.1598-6C>T Single submitter
c.183+14C>T Single submitter
c.183+7C>A Single submitter
c.184-14T>A Single submitter
c.184-14T>G Single submitter
c.184-17A>G Single submitter
c.184-8T>C Single submitter
c.1976+13C>A Single submitter
c.1976+13C>T Single submitter
c.1976+18C>A Single submitter
c.1976+19C>T Single submitter
c.1976+8C>A Single submitter
c.1976+9C>T Single submitter
c.1977-10C>T Single submitter
c.1977-15C>T Single submitter
c.1977-17C>A Single submitter
c.1977-4T>C Single submitter
c.1977-5C>T Single submitter
c.2137+10G>A Single submitter
c.2137+11G>C Single submitter
c.2137+12G>A Single submitter
c.2137+13G>A Single submitter
c.2137+15A>G Single submitter
c.2137+16C>A Single submitter
c.2137+16C>G Single submitter
c.2137+17C>T Single submitter
c.2137+18C>A Single submitter
c.2137+18C>G Single submitter
c.2137+18C>T Single submitter
c.2137+19G>A Single submitter
c.2137+19G>T Single submitter
c.2137+9A>G Single submitter
c.2138-10C>A Single submitter
c.2138-10C>T Single submitter
c.2138-11T>C Single submitter
c.2138-11T>G Single submitter
c.2138-16A>G Single submitter
c.2138-17C>T Single submitter
c.2138-19C>T Single submitter
c.2138-4A>G Single submitter
c.2138-7G>A Single submitter
c.2138-7G>T Single submitter
c.2138-8C>T Single submitter
c.2358+10G>A Single submitter
c.2358+18G>A Single submitter
c.2359-12A>G Single submitter
c.2359-15_2359-14del Single submitter
c.2359-16C>G Single submitter
c.2359-17C>T Single submitter
c.2359-18A>G Single submitter
c.2359-6C>T Single submitter
c.2359-8G>A Single submitter
c.2556+10G>A Single submitter
c.2556+12C>T Single submitter
c.2556+15G>A Single submitter
c.2556+16G>A Single submitter
c.2556+17C>T Single submitter
c.2556+18G>A Single submitter
c.2556+20G>A Single submitter
c.2556+20G>T Single submitter
c.2556+8C>T Single submitter
c.2557-10A>G Single submitter
c.2557-16G>A Single submitter
c.2557-17A>G Single submitter
c.2557-20C>G Single submitter
c.2557-20C>T Single submitter
c.2557-5A>T Single submitter
c.2557-8G>A Single submitter
c.2557-9T>C Single submitter
c.2701+10G>C Single submitter
c.2701+10G>T Single submitter
c.2701+16del Single submitter
c.2701+20C>A Single submitter
c.2701+20C>G Single submitter
c.2701+20C>T Single submitter
c.2701+9A>T Single submitter
c.2702-11T>G Single submitter
c.2702-13_2702-12insC Single submitter
c.2702-17T>G Single submitter
c.2702-18A>G Single submitter
c.2702-19A>C Single submitter
c.2702-20_2702-17dup Single submitter
c.2702-4C>T Single submitter
c.2702-7C>G Single submitter
c.28+11C>A Single submitter
c.28+12T>G Single submitter
c.28+16C>G Single submitter
c.28+8C>A Single submitter
c.28+8C>T Single submitter
c.28+9C>T Single submitter
c.29-14C>A Single submitter
c.29-17C>T Single submitter
c.29-18A>T Single submitter
c.29-19C>T Single submitter
c.29-20_29-19insCTCCATCAA Single submitter
c.29-4T>C Single submitter
c.29-8G>A Single submitter
c.2909+10T>C Single submitter
c.2909+11G>A Single submitter
c.2909+11G>T Single submitter
c.2909+12G>A Single submitter
c.2909+13G>A Single submitter
c.2909+14C>T Single submitter
c.2909+18G>C Single submitter
c.2910-14C>T Single submitter
c.2910-19T>C Single submitter
c.2910-4C>A Single submitter
c.2910-5C>T Single submitter
c.2910-6_2910-4del Single submitter
c.298+12C>T Single submitter
c.298+14A>G Single submitter
c.298+17T>C Single submitter
c.298+18A>G Single submitter
c.298+20G>A Single submitter
c.299-10G>C Single submitter
c.299-18T>C Single submitter
c.299-5T>C Single submitter
c.299-5T>G Single submitter
c.299-8C>T Single submitter
c.3051+11A>T Single submitter
c.3051+15C>T Single submitter
c.3051+16T>C Single submitter
c.3051+19C>T Single submitter
c.3052-11T>C Single submitter
c.3052-12C>T Single submitter
c.3052-18C>A Single submitter
c.3052-18C>T Single submitter
c.3052-6A>G Single submitter
c.3052-9T>G Single submitter
c.3228+13C>T Single submitter
c.3228+14G>A Single submitter
c.3228+14G>T Single submitter
c.3228+17G>T Single submitter
c.3228+18T>C Single submitter
c.3228+7A>G Single submitter
c.3229-16A>G Single submitter
c.3229-19A>G Single submitter
c.3229-4T>G Single submitter
c.3229-9C>T Single submitter
c.3382+12G>T Single submitter
c.3382+20G>A Single submitter
c.3383-15T>C Single submitter
c.3383-16G>A Single submitter
c.372+13G>A Single submitter
c.372+13G>C Single submitter
c.372+15G>C Single submitter
c.372+16G>A Single submitter
c.372+16G>T Single submitter
c.372+18G>A Single submitter
c.372+7C>T Single submitter
c.372+9C>T Single submitter
c.373-10G>C Single submitter
c.373-12C>T Single submitter
c.373-18C>T Single submitter
c.373-6C>T Single submitter
c.564+11G>A Single submitter
c.564+12G>A Single submitter
c.564+16C>T Single submitter
c.564+7A>G Single submitter
c.565-14C>T Single submitter
c.565-16T>A Single submitter
c.565-19C>T Single submitter
c.565-20T>A Single submitter
c.565-7T>A Single submitter
c.628+10G>C Single submitter
c.628+10G>T Single submitter
c.628+7G>A Single submitter
c.628+7G>C Single submitter
c.628+9G>A Single submitter
c.629-10G>T Single submitter
c.629-11G>T Single submitter
c.822+10T>G Single submitter
c.822+13G>T Single submitter
c.822+14G>A Single submitter
c.822+16G>A Single submitter
c.822+18G>C Single submitter
c.822+6_822+8del Single submitter
c.822+7G>A Single submitter
c.822+8C>G Single submitter
c.823-11C>A Single submitter
c.823-11C>G Single submitter
c.823-16A>G Single submitter
c.823-7C>G Single submitter
c.823-7C>T Single submitter
c.823-8C>G Single submitter
c.823-8C>T Single submitter
c.823-9C>G Single submitter
c.943+10T>A Single submitter
c.943+11T>G Single submitter
c.943+12G>C Single submitter
c.943+15T>A Single submitter
c.943+19C>T Single submitter
c.944-4C>T Single submitter
c.*137T>C Single submitter junctional epidermolysis bullosa
c.*262G>A Single submitter junctional epidermolysis bullosa
c.*70G>A Single submitter junctional epidermolysis bullosa
p.Ala1016= Single submitter
p.Ala1057= Single submitter
p.Ala1060= Single submitter
p.Ala1064= Single submitter
p.Ala1067= Single submitter
p.Ala1071= Single submitter
p.Ala1103= Single submitter
p.Ala1139= Single submitter
p.Ala1169= Single submitter
p.Ala129= Single submitter
p.Ala150= Single submitter
p.Ala151= Single submitter
p.Ala17= Single submitter
p.Ala20= Single submitter
p.Ala225= Single submitter
p.Ala25= Single submitter
p.Ala265= Single submitter
p.Ala267= Single submitter
p.Ala286= Single submitter
p.Ala305= Single submitter
p.Ala333= Single submitter
p.Ala334= Single submitter
p.Ala466= Single submitter
p.Ala533= Single submitter
p.Ala580= Single submitter
p.Ala590= Single submitter
p.Ala607= Single submitter

Uncertain significance 359

Showing the top 300 by review status; the full set is in the sitemap.

c.-72C>A Multiple submitters junctional epidermolysis bullosa
p.Ala1071Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1145Val Multiple submitters Inborn genetic diseases ⚠
p.Ala305Val Multiple submitters junctional epidermolysis bullosa
p.Ala330Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala330Val Multiple submitters Inborn genetic diseases ⚠
p.Ala590Val Multiple submitters Inborn genetic diseases ⚠
p.Ala825Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala832Val Multiple submitters Inborn genetic diseases ⚠
p.Ala855Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg1006Cys Multiple submitters junctional epidermolysis bullosa ⚠
p.Arg1006Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg1009Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg1023Gln Multiple submitters amelogenesis imperfecta type 1A ⚠
p.Arg1023Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg1051Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1051Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg1135Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg135His Multiple submitters Inborn genetic diseases ⚠
p.Arg159Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg258His Multiple submitters Inborn genetic diseases ⚠
p.Arg300Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg366Trp Multiple submitters ⚠
p.Arg430Cys Multiple submitters junctional epidermolysis bullosa ⚠
p.Arg522Gln Multiple submitters junctional epidermolysis bullosa ⚠
p.Arg539Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg552Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg556Cys Multiple submitters junctional epidermolysis bullosa
p.Arg574His Multiple submitters Inborn genetic diseases ⚠
p.Arg603Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg618Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg623Gln Multiple submitters amelogenesis imperfecta type 1A ⚠
p.Arg81Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg889Trp Multiple submitters junctional epidermolysis bullosa ⚠
p.Arg958His Multiple submitters junctional epidermolysis bullosa Herlitz type ⚠
p.Arg988Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg988Trp Multiple submitters amelogenesis imperfecta type 1A ⚠
p.Asn345His Multiple submitters Inborn genetic diseases ⚠
p.Asn944Ser Multiple submitters junctional epidermolysis bullosa ⚠
p.Cys316Tyr Multiple submitters junctional epidermolysis bullosa, non-Herlitz type ⚠
p.Gln19Lys Multiple submitters Inborn genetic diseases ⚠
p.Gln880His Multiple submitters junctional epidermolysis bullosa ⚠
p.Glu446Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly130Cys Multiple submitters Inborn genetic diseases ⚠
p.Gly186Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly254Asp Multiple submitters junctional epidermolysis bullosa, non-Herlitz type ⚠
p.Gly287Ser Multiple submitters junctional epidermolysis bullosa ⚠
p.Gly475Ser Multiple submitters amelogenesis imperfecta type 1A ⚠
p.Gly691Ser Multiple submitters Inborn genetic diseases ⚠
p.His276Gln Multiple submitters Inborn genetic diseases ⚠
p.Ile516Val Multiple submitters Inborn genetic diseases ⚠
p.Ile799Met Multiple submitters Inborn genetic diseases ⚠
p.Leu224Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu921Met Multiple submitters Inborn genetic diseases ⚠
p.Met194Ile Multiple submitters junctional epidermolysis bullosa Herlitz type ⚠
p.Met774Leu Multiple submitters Inborn genetic diseases ⚠
p.Met932Thr Multiple submitters Inborn genetic diseases ⚠
p.Phe506Ile Multiple submitters junctional epidermolysis bullosa ⚠
p.Pro304Leu Multiple submitters junctional epidermolysis bullosa ⚠
p.Pro368Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro415Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro443Leu Multiple submitters junctional epidermolysis bullosa ⚠
p.Pro485Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro544Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro576Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro679Leu Multiple submitters junctional epidermolysis bullosa Herlitz type ⚠
p.Pro807Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro91Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser236Thr Multiple submitters junctional epidermolysis bullosa ⚠
p.Thr1110Ile Multiple submitters Inborn genetic diseases ⚠
p.Tyr27His Multiple submitters Inborn genetic diseases ⚠
p.Val1021Leu Multiple submitters junctional epidermolysis bullosa ⚠
p.Val1108Gly Multiple submitters Inborn genetic diseases ⚠
p.Val400Leu Multiple submitters Inborn genetic diseases ⚠
p.Val916Met Multiple submitters Inborn genetic diseases ⚠
c.1485+4C>T Single submitter
c.2359-3C>T Single submitter junctional epidermolysis bullosa
c.28+4A>C Single submitter
c.298+3_298+8del Single submitter
c.3051+3G>A Single submitter
c.3382+8A>G Single submitter junctional epidermolysis bullosa
c.629-5C>G Single submitter
c.822+5C>G Single submitter
c.943+3A>G Single submitter
c.944-14C>G Single submitter amelogenesis imperfecta type 1A
c.-38+14C>T Single submitter junctional epidermolysis bullosa
c.-38+1G>T Single submitter junctional epidermolysis bullosa Herlitz type
c.*124C>T Single submitter junctional epidermolysis bullosa
c.*132G>A Single submitter junctional epidermolysis bullosa
c.*19G>A Single submitter
c.*224G>A Single submitter junctional epidermolysis bullosa
c.*275C>T Single submitter junctional epidermolysis bullosa
c.*279G>A Single submitter junctional epidermolysis bullosa
c.*392C>T Single submitter junctional epidermolysis bullosa
p.Ala1057Gly Single submitter junctional epidermolysis bullosa Herlitz type ⚠
p.Ala1057Thr Single submitter Inborn genetic diseases ⚠
p.Ala1064Val Single submitter Inborn genetic diseases ⚠
p.Ala1071Glu Single submitter Inborn genetic diseases ⚠
p.Ala1071Pro Single submitter Inborn genetic diseases ⚠
p.Ala1074Ser Single submitter Inborn genetic diseases ⚠
p.Ala1074Val Single submitter Inborn genetic diseases ⚠
p.Ala10Pro Single submitter ⚠
p.Ala1112Thr Single submitter Inborn genetic diseases ⚠
p.Ala1139Val Single submitter junctional epidermolysis bullosa ⚠
p.Ala17Thr Single submitter Inborn genetic diseases ⚠
p.Ala20Val Single submitter Inborn genetic diseases ⚠
p.Ala25Val Single submitter Inborn genetic diseases ⚠
p.Ala334Thr Single submitter ⚠
p.Ala390Ser Single submitter Inborn genetic diseases ⚠
p.Ala423Thr Single submitter junctional epidermolysis bullosa ⚠
p.Ala43Val Single submitter Inborn genetic diseases ⚠
p.Ala596Pro Single submitter Inborn genetic diseases ⚠
p.Ala596Val Single submitter Inborn genetic diseases ⚠
p.Ala607Gly Single submitter Inborn genetic diseases ⚠
p.Ala729Thr Single submitter Inborn genetic diseases ⚠
p.Ala832= Single submitter junctional epidermolysis bullosa
p.Ala836Val Single submitter ⚠
p.Ala855Val Single submitter Inborn genetic diseases ⚠
p.Ala867Thr Single submitter Inborn genetic diseases ⚠
p.Arg1006His Single submitter Inborn genetic diseases ⚠
p.Arg1009Gln Single submitter Inborn genetic diseases ⚠
p.Arg1009Leu Single submitter Inborn genetic diseases ⚠
p.Arg1042Gln Single submitter ⚠
p.Arg1047Cys Single submitter ⚠
p.Arg1091Gln Single submitter Inborn genetic diseases ⚠
p.Arg1091Gly Single submitter Inborn genetic diseases ⚠
p.Arg1091Trp Single submitter Inborn genetic diseases ⚠
p.Arg1135Trp Single submitter ⚠
p.Arg113Ser Single submitter Inborn genetic diseases ⚠
p.Arg1143Cys Single submitter Inborn genetic diseases ⚠
p.Arg1143His Single submitter ⚠
p.Arg1153Cys Single submitter Inborn genetic diseases ⚠
p.Arg1153Ser Single submitter Inborn genetic diseases ⚠
p.Arg1164Cys Single submitter amelogenesis imperfecta type 1A
p.Arg1164His Single submitter Inborn genetic diseases ⚠
p.Arg135Cys Single submitter Inborn genetic diseases ⚠
p.Arg159Gln Single submitter ⚠
p.Arg161His Single submitter Inborn genetic diseases ⚠
p.Arg161Leu Single submitter Inborn genetic diseases ⚠
p.Arg164Trp Single submitter Inborn genetic diseases ⚠
p.Arg172Gln Single submitter Inborn genetic diseases ⚠
p.Arg172Trp Single submitter ⚠
p.Arg179Lys Single submitter Inborn genetic diseases ⚠
p.Arg300Gln Single submitter ⚠
p.Arg347Gln Single submitter Inborn genetic diseases ⚠
p.Arg357Gln Single submitter Inborn genetic diseases ⚠
p.Arg357Trp Single submitter Inborn genetic diseases ⚠
p.Arg364Gln Single submitter Inborn genetic diseases ⚠
p.Arg39Trp Single submitter Inborn genetic diseases ⚠
p.Arg42Gln Single submitter ⚠
p.Arg450His Single submitter Inborn genetic diseases ⚠
p.Arg517His Single submitter Inborn genetic diseases ⚠
p.Arg552His Single submitter junctional epidermolysis bullosa Herlitz type ⚠
p.Arg569Gln Single submitter ⚠
p.Arg569Pro Single submitter Inborn genetic diseases ⚠
p.Arg593Trp Single submitter Inborn genetic diseases ⚠
p.Arg598Cys Single submitter ⚠
p.Arg598His Single submitter junctional epidermolysis bullosa ⚠
p.Arg603His Single submitter Inborn genetic diseases ⚠
p.Arg623Trp Single submitter Inborn genetic diseases ⚠
p.Arg660Pro Single submitter Inborn genetic diseases ⚠
p.Arg700Gly Single submitter Inborn genetic diseases ⚠
p.Arg716Trp Single submitter Inborn genetic diseases ⚠
p.Arg737Ser Single submitter Inborn genetic diseases ⚠
p.Arg746Gln Single submitter ⚠
p.Arg746Trp Single submitter Inborn genetic diseases ⚠
p.Arg747Ser Single submitter Inborn genetic diseases ⚠
p.Arg819Ser Single submitter Inborn genetic diseases ⚠
p.Arg81Pro Single submitter ⚠
p.Arg840Trp Single submitter ⚠
p.Arg869Cys Single submitter Inborn genetic diseases ⚠
p.Arg878Cys Single submitter junctional epidermolysis bullosa, non-Herlitz type ⚠
p.Arg878His Single submitter Inborn genetic diseases ⚠
p.Arg887Cys Single submitter Inborn genetic diseases ⚠
p.Arg887His Single submitter ⚠
p.Arg889Gln Single submitter ⚠
p.Arg889Gly Single submitter Inborn genetic diseases ⚠
p.Arg896Gln Single submitter Inborn genetic diseases ⚠
p.Arg93His Single submitter Inborn genetic diseases ⚠
p.Arg960Cys Single submitter Inborn genetic diseases ⚠
p.Arg960His Single submitter Inborn genetic diseases ⚠
p.Arg961Trp Single submitter Inborn genetic diseases ⚠
p.Asn102Lys Single submitter Inborn genetic diseases ⚠
p.Asn299Ile Single submitter Inborn genetic diseases
p.Asn319Ser Single submitter Inborn genetic diseases ⚠
p.Asn424His Single submitter Inborn genetic diseases ⚠
p.Asn487Ser Single submitter Inborn genetic diseases ⚠
p.Asn494Lys Single submitter junctional epidermolysis bullosa, non-Herlitz type ⚠
p.Asn573Ser Single submitter Inborn genetic diseases ⚠
p.Asn843Lys Single submitter Inborn genetic diseases ⚠
p.Asp111Asn Single submitter Inborn genetic diseases ⚠
p.Asp1146Tyr Single submitter Inborn genetic diseases ⚠
p.Asp152Asn Single submitter ⚠
p.Asp152Val Single submitter Inborn genetic diseases ⚠
p.Asp277Asn Single submitter Inborn genetic diseases ⚠
p.Asp277Gly Single submitter Inborn genetic diseases ⚠
p.Asp317Asn Single submitter Inborn genetic diseases ⚠
p.Asp328Gly Single submitter Inborn genetic diseases ⚠
p.Asp384Asn Single submitter Inborn genetic diseases ⚠
p.Asp384Gly Single submitter junctional epidermolysis bullosa
p.Asp484Asn Single submitter Inborn genetic diseases ⚠
p.Asp484Tyr Single submitter junctional epidermolysis bullosa ⚠
p.Asp547Asn Single submitter ⚠
p.Asp626Gly Single submitter Inborn genetic diseases ⚠
p.Asp668Asn Single submitter Inborn genetic diseases ⚠
p.Asp734Asn Single submitter Inborn genetic diseases ⚠
p.Asp740Asn Single submitter Inborn genetic diseases ⚠
p.Asp905Glu Single submitter Inborn genetic diseases ⚠
p.Asp955Tyr Single submitter Inborn genetic diseases
p.Cys325Arg Single submitter ⚠
p.Cys355Gly Single submitter ⚠
p.Cys358Arg Single submitter ⚠
p.Cys413Arg Single submitter Inborn genetic diseases ⚠
p.Cys444Arg Single submitter Inborn genetic diseases ⚠
p.Cys493Arg Single submitter ⚠
p.Cys546Arg Single submitter Inborn genetic diseases ⚠
p.Cys578Trp Single submitter Inborn genetic diseases ⚠
p.Cys578Tyr Single submitter Inborn genetic diseases ⚠
p.Cys67Phe Single submitter Inborn genetic diseases ⚠
p.Gln1052Lys Single submitter junctional epidermolysis bullosa ⚠
p.Gln1094_Ser1095delinsPro Single submitter
p.Gln1094Lys Single submitter Inborn genetic diseases ⚠
p.Gln373Arg Single submitter Inborn genetic diseases ⚠
p.Gln663His Single submitter ⚠
p.Gln730Arg Single submitter Inborn genetic diseases ⚠
p.Gln73Pro Single submitter Inborn genetic diseases ⚠
p.Gln741Pro Single submitter Inborn genetic diseases ⚠
p.Gln880Leu Single submitter Inborn genetic diseases ⚠
p.Gln963Arg Single submitter Inborn genetic diseases ⚠
p.Glu1121Gly Single submitter Inborn genetic diseases ⚠
p.Glu323Ala Single submitter ⚠
p.Glu356Lys Single submitter Inborn genetic diseases
p.Glu403Gly Single submitter ⚠
p.Glu704Gln Single submitter ⚠
p.Glu837Asp Single submitter Inborn genetic diseases ⚠
p.Glu857Lys Single submitter Inborn genetic diseases ⚠
p.Glu858Asp Single submitter Inborn genetic diseases ⚠
p.Glu934Asp Single submitter Inborn genetic diseases ⚠
p.Gly1003Ala Single submitter junctional epidermolysis bullosa Herlitz type ⚠
p.Gly1003Ser Single submitter junctional epidermolysis bullosa ⚠
p.Gly125Ala Single submitter ⚠
p.Gly130Ser Single submitter ⚠
p.Gly13Asp Single submitter Inborn genetic diseases ⚠
p.Gly186Trp Single submitter Inborn genetic diseases ⚠
p.Gly307Val Single submitter Inborn genetic diseases ⚠
p.Gly31Glu Single submitter Inborn genetic diseases ⚠
p.Gly369Ala Single submitter ⚠
p.Gly397Arg Single submitter ⚠
p.Gly508Ser Single submitter ⚠
p.Gly525Ala Single submitter Inborn genetic diseases ⚠
p.Gly530Arg Single submitter Inborn genetic diseases ⚠
p.Gly561Arg Single submitter Inborn genetic diseases ⚠
p.Gly758Glu Single submitter Inborn genetic diseases ⚠
p.Gly820Ser Single submitter ⚠
p.Gly820Val Single submitter Inborn genetic diseases
p.Gly833Arg Single submitter Inborn genetic diseases ⚠
p.Gly90Ser Single submitter Inborn genetic diseases ⚠
p.Gly990Arg Single submitter junctional epidermolysis bullosa ⚠
p.His233Asp Single submitter Inborn genetic diseases ⚠
p.His253Arg Single submitter Inborn genetic diseases ⚠
p.His582Arg Single submitter Inborn genetic diseases ⚠
p.Ile1140Met Single submitter Inborn genetic diseases ⚠
p.Ile435Asn Single submitter Inborn genetic diseases ⚠
p.Ile799Thr Single submitter Inborn genetic diseases ⚠
p.Ile799Val Single submitter Inborn genetic diseases ⚠
p.Leu1046Phe Single submitter Inborn genetic diseases ⚠
p.Leu1098Pro Single submitter Inborn genetic diseases ⚠
p.Leu1134Arg Single submitter Inborn genetic diseases ⚠
p.Leu609Gln Single submitter Inborn genetic diseases ⚠
p.Leu620Met Single submitter ⚠
p.Leu671Pro Single submitter Inborn genetic diseases ⚠
p.Leu676Ser Single submitter ⚠
p.Leu6Phe Single submitter Inborn genetic diseases ⚠
p.Leu738Phe Single submitter Inborn genetic diseases ⚠
p.Leu752Pro Single submitter Inborn genetic diseases ⚠
p.Leu917Pro Single submitter ⚠
p.Leu942Ile Single submitter Inborn genetic diseases ⚠
p.Lys1089Arg Single submitter ⚠
p.Lys188Glu Single submitter Inborn genetic diseases ⚠
p.Lys414Gln Single submitter Inborn genetic diseases ⚠
p.Lys65Thr Single submitter Inborn genetic diseases ⚠
p.Met1032Arg Single submitter Inborn genetic diseases ⚠
p.Met120Val Single submitter ⚠
p.Met442Thr Single submitter Inborn genetic diseases ⚠
p.Met695Val Single submitter Inborn genetic diseases ⚠
p.Phe1039Leu Single submitter Inborn genetic diseases ⚠
p.Phe1116Ser Single submitter Inborn genetic diseases ⚠
p.Phe114Val Single submitter Inborn genetic diseases ⚠
p.Phe123Leu Single submitter Inborn genetic diseases ⚠
p.Phe689Ser Single submitter Inborn genetic diseases ⚠
p.Pro103Ser Single submitter Inborn genetic diseases ⚠
p.Pro158Ser Single submitter ⚠
p.Pro29Ser Single submitter ⚠
p.Pro425Leu Single submitter Inborn genetic diseases ⚠
p.Pro557Leu Single submitter junctional epidermolysis bullosa ⚠
p.Pro576Arg Single submitter Inborn genetic diseases ⚠
p.Pro583His Single submitter junctional epidermolysis bullosa ⚠
p.Pro613Ser Single submitter Inborn genetic diseases ⚠
p.Pro641Ser Single submitter Inborn genetic diseases ⚠
p.Pro802Leu Single submitter Inborn genetic diseases ⚠