LAMC2 — 1224 ClinVar variants

All ClinVar germline LAMC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 218 flagged for review →

89 Pathogenic · 13 Pathogenic/Likely pathogenic · 112 Likely pathogenic · 41 Conflicting · 76 Benign · 13 Benign/Likely benign · 623 Likely benign · 257 Uncertain significance

Full LAMC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 218

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 agree, ClinVar conflicts 16

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

LAMC2 p.Ala200Glu Conflicting Single submitter
junctional epidermolysis bullosa
LAMC2 p.Ala546Asp Conflicting Single submitter
junctional epidermolysis bullosa Herlitz type
LAMC2 p.Ala796Val Conflicting Single submitter
junctional epidermolysis bullosa
LAMC2 p.Ala811Gly Conflicting Single submitter
Inborn genetic diseases
LAMC2 p.Arg170Leu Conflicting Single submitter
Inborn genetic diseases
LAMC2 p.Arg197His Conflicting Single submitter
Inborn genetic diseases
LAMC2 p.Arg295Gln Conflicting Single submitter
junctional epidermolysis bullosa
LAMC2 p.Arg926His Conflicting Single submitter
epidermolysis bullosa, junctional 3A, intermediate
LAMC2 p.Glu957Lys Conflicting Single submitter
epidermolysis bullosa, junctional 3A, intermediate
LAMC2 p.Gly1104Ser Conflicting Single submitter
Inborn genetic diseases
LAMC2 p.Ile383Val Conflicting Single submitter
junctional epidermolysis bullosa
LAMC2 p.Ile440Val Conflicting Single submitter
junctional epidermolysis bullosa
LAMC2 p.Met1053Lys Conflicting Single submitter
junctional epidermolysis bullosa
LAMC2 p.Pro808Leu Conflicting Single submitter
Inborn genetic diseases
LAMC2 p.Thr297Ala Conflicting Single submitter
epidermolysis bullosa, junctional 3A, intermediate
LAMC2 p.Val480Met Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 169

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 169

LAMC2 p.Ala405Val Uncertain significance Multiple submitters
junctional epidermolysis bullosa Herlitz type
LAMC2 p.Arg1150His Uncertain significance Multiple submitters
junctional epidermolysis bullosa
LAMC2 p.Arg894His Uncertain significance Multiple submitters
junctional epidermolysis bullosa
LAMC2 p.Asp247His Uncertain significance Multiple submitters
Inborn genetic diseases
LAMC2 p.Cys519Arg Uncertain significance Multiple submitters
junctional epidermolysis bullosa
LAMC2 p.Gln1005Arg Uncertain significance Multiple submitters
Inborn genetic diseases
LAMC2 p.Glu1160Asp Uncertain significance Multiple submitters
Inborn genetic diseases
LAMC2 p.Glu671Val Uncertain significance Multiple submitters
LAMC2 p.Gly278Arg Uncertain significance Multiple submitters
Inborn genetic diseases
LAMC2 p.Gly672Ala Uncertain significance Multiple submitters
Inborn genetic diseases
LAMC2 p.His1107Arg Uncertain significance Multiple submitters
Inborn genetic diseases
LAMC2 p.Ile447Val Uncertain significance Multiple submitters
Inborn genetic diseases
LAMC2 p.Ile839Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LAMC2 p.Leu852Pro Uncertain significance Multiple submitters
junctional epidermolysis bullosa
LAMC2 p.Pro595Gln Uncertain significance Multiple submitters
Inborn genetic diseases
LAMC2 p.Ser283Pro Uncertain significance Multiple submitters
LAMC2 p.Ser883Arg Uncertain significance Multiple submitters
Inborn genetic diseases
LAMC2 p.Ala1032Thr Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Ala1036Thr Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Ala1047Asp Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Ala1081Val Uncertain significance Single submitter
LAMC2 p.Ala1168Asp Uncertain significance Single submitter
junctional epidermolysis bullosa
LAMC2 p.Ala1189Gly Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Ala1189Thr Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Ala126Gly Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Ala126Val Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Ala152Thr Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Ala19Ser Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Ala200Ser Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Ala423Asp Uncertain significance Single submitter
junctional epidermolysis bullosa
LAMC2 p.Ala527Gly Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Ala878Val Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Ala943Asp Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg101Gln Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg1087Lys Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg1129Gln Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg1139Gln Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg1139Trp Uncertain significance Single submitter
LAMC2 p.Arg115Gly Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg1177Lys Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg154His Uncertain significance Single submitter
junctional epidermolysis bullosa
LAMC2 p.Arg165His Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg170Gln Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg170Pro Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg20Trp Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg235His Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg24Gly Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg25Lys Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg274Cys Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg318Gly Uncertain significance Single submitter
LAMC2 p.Arg337Gln Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg347His Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg492His Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg533Gln Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg533Pro Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg571Gln Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg586Gln Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg652Ser Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg694His Uncertain significance Single submitter
junctional epidermolysis bullosa
LAMC2 p.Arg704Ser Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg763Gly Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg78Gly Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg843Ser Uncertain significance Single submitter
junctional epidermolysis bullosa
LAMC2 p.Arg857Gly Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg887Ser Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg887Thr Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Asn1029Thr Uncertain significance Single submitter
LAMC2 p.Asn31Ser Uncertain significance Single submitter
LAMC2 p.Asn574Ser Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Asn57Asp Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Asn752Ile Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Asn85Ser Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Asn928Ser Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Asp1178Asn Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Asp395Gly Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Asp452Asn Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Asp455Asn Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Asp524Glu Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Asp568His Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Asp641Val Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Asp809Tyr Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Asp921Tyr Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Asp963Asn Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Asp988Glu Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Cys104Tyr Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Cys141Trp Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Cys189Phe Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Cys396Arg Uncertain significance Single submitter
LAMC2 p.Cys396Trp Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Cys553Tyr Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Gln132Arg Uncertain significance Single submitter
LAMC2 p.Gln237Lys Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Gln419His Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Gln658Glu Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Gln788Lys Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Gln922Arg Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Glu1057Lys Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Glu1146Asp Uncertain significance Single submitter
epidermolysis bullosa, junctional 3B, severe
LAMC2 p.Glu164Lys Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Glu507Lys Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Glu581Asp Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Glu631Gln Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Glu760Lys Uncertain significance Single submitter
junctional epidermolysis bullosa Herlitz type
LAMC2 p.Glu776Gly Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Gly145Ser Uncertain significance Single submitter
LAMC2 p.Gly304Ser Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Gly420Ala Uncertain significance Single submitter
junctional epidermolysis bullosa
LAMC2 p.Gly420Glu Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Gly490Ala Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Gly559Arg Uncertain significance Single submitter
junctional epidermolysis bullosa
LAMC2 p.Gly599Val Uncertain significance Single submitter
LAMC2 p.Gly62Asp Uncertain significance Single submitter
LAMC2 p.Gly709Glu Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Gly802Arg Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Gly806Ser Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Gly815Arg Uncertain significance Single submitter
LAMC2 p.His1107Gln Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.His205Arg Uncertain significance Single submitter
LAMC2 p.His281Tyr Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Ile1176Val Uncertain significance Single submitter
LAMC2 p.Ile360Val Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Ile366Thr Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Ile447Thr Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Ile542Thr Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Ile663Val Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Ile669Thr Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Ile742Val Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Ile874Ser Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Leu1065Met Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Leu1156Ile Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Leu134Val Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Leu311Val Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Leu346Val Uncertain significance Single submitter
junctional epidermolysis bullosa
LAMC2 p.Leu849Phe Uncertain significance Single submitter
junctional epidermolysis bullosa
LAMC2 p.Leu997Met Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Lys256Arg Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Lys893Asn Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Lys897Asn Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Lys931Glu Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Met1053Ile Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Met1109Thr Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Met122Arg Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Met473Thr Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Met940Thr Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Phe257Tyr Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Phe505Ser Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Pro1112Ala Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Pro143Thr Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Pro370Leu Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Pro808Gln Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 33

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

LAMC2 p.Arg197Cys Likely benign Multiple submitters
junctional epidermolysis bullosa
LAMC2 p.Lys989Asn Uncertain significance Multiple submitters
Inborn genetic diseases
LAMC2 p.Thr124Met Benign Multiple submitters
junctional epidermolysis bullosa
LAMC2 p.Ala144Pro Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Ala761Asp Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg101Trp Uncertain significance Single submitter
junctional epidermolysis bullosa Herlitz type
LAMC2 p.Arg1150Cys Uncertain significance Single submitter
junctional epidermolysis bullosa
LAMC2 p.Arg154Cys Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg165Cys Conflicting Single submitter
amelogenesis imperfecta type 1
LAMC2 p.Arg295Trp Likely benign Single submitter
junctional epidermolysis bullosa Herlitz type
LAMC2 p.Arg347Cys Conflicting Single submitter
LAMC2 p.Arg349Gln Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg457Cys Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg45Gly Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg533Trp Uncertain significance Single submitter
junctional epidermolysis bullosa
LAMC2 p.Arg694Cys Likely benign Single submitter
LAMC2 p.Arg794Cys Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg80Cys Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg850Cys Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Arg857Trp Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Asn522Ser Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Asp1116Tyr Uncertain significance Single submitter
junctional epidermolysis bullosa
LAMC2 p.Asp272Gly Uncertain significance Single submitter
junctional epidermolysis bullosa Herlitz type
LAMC2 p.Gly1104Cys Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Gly941Val Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Ile296Phe Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Ile979Asn Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Leu331Met Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Leu816Pro Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Lys460Glu Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Pro299Thr Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Thr297Ile Uncertain significance Single submitter
Inborn genetic diseases
LAMC2 p.Tyr1185Cys Uncertain significance Single submitter
Inborn genetic diseases

All LAMC2 variants

Pathogenic 89

p.Arg1129Ter Multiple submitters epidermolysis bullosa, junctional 3A, intermediate
p.Arg115Ter Multiple submitters junctional epidermolysis bullosa Herlitz type
p.Arg223Ter Multiple submitters epidermolysis bullosa, junctional 3A, intermediate
p.Arg349Ter Multiple submitters junctional epidermolysis bullosa
p.Arg95Ter Multiple submitters epidermolysis bullosa, junctional 3B, severe
p.Gln46Ter Multiple submitters epidermolysis bullosa, junctional 3B, severe
p.Leu830fs Multiple submitters junctional epidermolysis bullosa
p.Lys594fs Multiple submitters epidermolysis bullosa, junctional 3A, intermediate
p.Tyr355Ter Multiple submitters epidermolysis bullosa, junctional 3A, intermediate
c.1066+1del Single submitter junctional epidermolysis bullosa Herlitz type
c.1067-1G>A Single submitter junctional epidermolysis bullosa Herlitz type
c.2015-2A>G Single submitter junctional epidermolysis bullosa
c.2755-2A>G Single submitter epidermolysis bullosa, junctional 3B, severe
c.404+3_404+6del Single submitter junctional epidermolysis bullosa
c.405-1G>A Single submitter epidermolysis bullosa, junctional 3A, intermediate
c.405-2A>G Single submitter
p.Ala772Ter Single submitter
p.Arg168fs Single submitter
p.Arg337Ter Single submitter
p.Arg533fs Single submitter
p.Arg571Ter Single submitter epidermolysis bullosa, junctional 3A, intermediate
p.Arg586Ter Single submitter
p.Arg675Ter Single submitter
p.Arg715Ter Single submitter
p.Asn180fs Single submitter
p.Asn87Ter Single submitter
p.Asp621fs Single submitter
p.Asp718fs Single submitter
p.Asp809fs Single submitter
p.Cys128fs Single submitter junctional epidermolysis bullosa
p.Cys462_Asn466delinsTer Single submitter
p.Cys550Ter Single submitter junctional epidermolysis bullosa, non-Herlitz type
p.Cys553Ter Single submitter epidermolysis bullosa, junctional 3B, severe
p.Gln1125Ter Single submitter
p.Gln1151Ter Single submitter junctional epidermolysis bullosa, non-Herlitz type
p.Gln222Ter Single submitter
p.Gln262_Val263insTer Single submitter
p.Gln267Ter Single submitter
p.Gln391Ter Single submitter
p.Gln615Ter Single submitter
p.Gln680Ter Single submitter
p.Gln711Ter Single submitter
p.Gln788Ter Single submitter
p.Gln867fs Single submitter
p.Glu321fs Single submitter
p.Glu441Ter Single submitter
p.Glu478fs Single submitter
p.Glu657delinsSerGluAsnGlyGlyProAspPheLysGlySerGlyTrpTer Single submitter
p.Glu781Ter Single submitter
p.Glu783fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Glu838fs Single submitter
p.Gly127Trp Single submitter junctional epidermolysis bullosa
p.Gly148fs Single submitter
p.Gly429Ter Single submitter
p.Gly529fs Single submitter
p.Gly916fs Single submitter
p.Ile348fs Single submitter junctional epidermolysis bullosa, non-Herlitz type
p.Leu1060fs Single submitter
p.Leu1099fs Single submitter
p.Leu1120fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Leu407fs Single submitter
p.Leu737fs Single submitter
p.Lys206fs Single submitter
p.Lys617Ter Single submitter
p.Lys822Ter Single submitter
p.Lys872fs Single submitter
p.Lys953Ter Single submitter
p.Met1Thr Single submitter
p.Phe334fs Single submitter
p.Phe392fs Single submitter
p.Phe505fs Single submitter
p.Pro808fs Single submitter
p.Ser226fs Single submitter
p.Ser242Ter Single submitter
p.Ser807fs Single submitter
p.Ser856fs Single submitter
p.Thr762fs Single submitter
p.Trp218Ter Single submitter
p.Trp902Ter Single submitter
p.Tyr315Ter Single submitter
p.Tyr388Ter Single submitter
p.Tyr748Ter Single submitter
p.Val1115fs Single submitter junctional epidermolysis bullosa
p.Val249fs Single submitter
p.Val855fs Single submitter
p.Val948fs Single submitter
p.Gln713fs No assertion criteria epidermolysis bullosa, junctional 3B, severe
p.Gly448fs No assertion criteria epidermolysis bullosa, junctional 3B, severe
p.Thr1132fs No assertion criteria epidermolysis bullosa, junctional 3A, intermediate

Pathogenic/Likely pathogenic 13

c.3328+1G>A Multiple submitters epidermolysis bullosa, junctional 3A, intermediate
p.Arg170Ter Multiple submitters junctional epidermolysis bullosa
p.Arg245Ter Multiple submitters junctional epidermolysis bullosa
p.Arg45fs Multiple submitters epidermolysis bullosa, junctional 3A, intermediate
p.Gln1152Ter Multiple submitters junctional epidermolysis bullosa Herlitz type
p.Gln692Ter Multiple submitters junctional epidermolysis bullosa
p.Gln961Ter Multiple submitters junctional epidermolysis bullosa
p.Gly642Ter Multiple submitters epidermolysis bullosa, junctional 3A, intermediate
p.Ile669fs Multiple submitters epidermolysis bullosa, junctional 3A, intermediate
p.Leu1122Ter Multiple submitters epidermolysis bullosa, junctional 3B, severe
p.Phe51fs Multiple submitters LAMC2-related disorder
p.Ser404Ter Multiple submitters LAMC2-related disorder
p.Tyr450Ter Multiple submitters

Likely pathogenic 112

c.1715-2A>G Multiple submitters epidermolysis bullosa, junctional 3A, intermediate
c.268+1G>A Multiple submitters epidermolysis bullosa, junctional 3A, intermediate
c.640+1G>A Multiple submitters epidermolysis bullosa, junctional 3A, intermediate
c.1066+1G>T Single submitter junctional epidermolysis bullosa
c.1285+1G>A Single submitter
c.1468+1G>A Single submitter epidermolysis bullosa, junctional 3B, severe
c.1468+1G>T Single submitter junctional epidermolysis bullosa Herlitz type
c.1715-1G>C Single submitter junctional epidermolysis bullosa Herlitz type
c.2014+1G>A Single submitter junctional epidermolysis bullosa Herlitz type
c.2015-1G>T Single submitter
c.2220+1_2220+2del Single submitter epidermolysis bullosa, junctional 3B, severe
c.2220+2T>C Single submitter
c.2601+1G>C Single submitter
c.2602-1G>A Single submitter
c.269-1G>T Single submitter
c.3069+1G>A Single submitter
c.3229-1G>A Single submitter
c.503+1G>C Single submitter junctional epidermolysis bullosa Herlitz type
c.504-51_550del Single submitter
c.764-1G>A Single submitter
c.80-2A>C Single submitter
c.80-2A>G Single submitter junctional epidermolysis bullosa Herlitz type
c.954-1G>A Single submitter
p.Ala374fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Ala443fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Ala491fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Ala761fs Single submitter epidermolysis bullosa, junctional 3B, severe
p.Ala878fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Ala967fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Arg917fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Arg933Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Arg95fs Single submitter epidermolysis bullosa, junctional 3B, severe
p.Asn574fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Asn59fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Asn739fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Asn901fs Single submitter epidermolysis bullosa, junctional 3B, severe
p.Asp276delinsLeuSerLeuIleIleTer Single submitter junctional epidermolysis bullosa Herlitz type
p.Asp568fs Single submitter epidermolysis bullosa, junctional 3B, severe
p.Cys309Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Cys393Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Cys531fs Single submitter
p.Cys593Ter Single submitter epidermolysis bullosa, junctional 3B, severe
p.Cys65Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Cys84Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Cys96Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Gln1005fs Single submitter epidermolysis bullosa, junctional 3B, severe
p.Gln1111Ter Single submitter epidermolysis bullosa, junctional 3B, severe
p.Gln1151fs Single submitter epidermolysis bullosa, junctional 3B, severe
p.Gln130Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Gln518Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Gln713Ter Single submitter epidermolysis bullosa, junctional 3B, severe
p.Gln788fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Gln907Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Gln911fs Single submitter epidermolysis bullosa, junctional 3B, severe
p.Gln922Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Gln992Ter Single submitter epidermolysis bullosa, junctional 3B, severe
p.Glu335Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Glu833fs Single submitter epidermolysis bullosa, junctional 3B, severe
p.Glu905Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Gly596Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Gly599fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Gly860Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Gly900fs Single submitter epidermolysis bullosa, junctional 3B, severe
p.Gly913fs Single submitter junctional epidermolysis bullosa Herlitz type
p.His285fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Leu858fs Single submitter epidermolysis bullosa, junctional 3B, severe
p.Lys569Ter Single submitter epidermolysis bullosa, junctional 3B, severe
p.Lys636fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Lys824Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Lys919Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Lys982Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Lys989Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Ser471Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Ser635Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Ser745Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Ser791Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Trp218fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Trp5Ter Single submitter
p.Tyr450fs Single submitter junctional epidermolysis bullosa Herlitz type
p.Tyr73Ter Single submitter junctional epidermolysis bullosa Herlitz type
p.Tyr946Ter Single submitter junctional epidermolysis bullosa Herlitz type
c.1468+1del No assertion criteria junctional epidermolysis bullosa Herlitz type
c.1714+2T>C No assertion criteria junctional epidermolysis bullosa Herlitz type
c.1715-1G>A No assertion criteria junctional epidermolysis bullosa Herlitz type
c.1857+1G>A No assertion criteria epidermolysis bullosa, junctional 3A, intermediate
c.1858-1G>A No assertion criteria junctional epidermolysis bullosa Herlitz type
c.2220+2T>G No assertion criteria junctional epidermolysis bullosa Herlitz type
c.2456+1G>C No assertion criteria junctional epidermolysis bullosa Herlitz type
c.2602-1G>C No assertion criteria junctional epidermolysis bullosa Herlitz type
c.3069+1G>C No assertion criteria junctional epidermolysis bullosa Herlitz type
c.3329-2A>G No assertion criteria junctional epidermolysis bullosa Herlitz type
c.504-2A>C No assertion criteria junctional epidermolysis bullosa Herlitz type
c.640+2T>A No assertion criteria junctional epidermolysis bullosa Herlitz type
c.641-2A>G No assertion criteria junctional epidermolysis bullosa Herlitz type
c.953+1G>A No assertion criteria junctional epidermolysis bullosa Herlitz type
c.954-2A>T No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Asp61Ter No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Cys187Ter No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Gln1075fs No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Gln1125fs No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Gln1137fs No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Gln237Ter No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Gln628Ter No assertion criteria epidermolysis bullosa, junctional 3A, intermediate
p.Gln864Ter No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Glu657fs No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Gly293fs No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Gly421fs No assertion criteria junctional epidermolysis bullosa Herlitz type
p.His847fs No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Leu797fs No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Lys1050fs No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Met1Ile No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Ser977fs No assertion criteria junctional epidermolysis bullosa Herlitz type

Conflicting classifications of pathogenicity 41

c.1286-4C>T Single submitter junctional epidermolysis bullosa
c.2014+12C>A Single submitter junctional epidermolysis bullosa
c.2456+15G>A Single submitter junctional epidermolysis bullosa
c.503+14G>A Single submitter junctional epidermolysis bullosa
c.80-6C>T Single submitter junctional epidermolysis bullosa
c.954-15T>C Single submitter junctional epidermolysis bullosa
p.Ala1011= Single submitter junctional epidermolysis bullosa
p.Ala1091= Single submitter junctional epidermolysis bullosa
p.Ala200Glu Single submitter junctional epidermolysis bullosa ⚠
p.Ala405= Single submitter junctional epidermolysis bullosa
p.Ala546Asp Single submitter junctional epidermolysis bullosa Herlitz type ⚠
p.Ala796Val Single submitter junctional epidermolysis bullosa ⚠
p.Ala811Gly Single submitter Inborn genetic diseases ⚠
p.Ala878= Single submitter junctional epidermolysis bullosa
p.Arg1153= Single submitter junctional epidermolysis bullosa
p.Arg165Cys Single submitter amelogenesis imperfecta type 1 ⚠
p.Arg170Leu Single submitter Inborn genetic diseases ⚠
p.Arg197His Single submitter Inborn genetic diseases ⚠
p.Arg295Gln Single submitter junctional epidermolysis bullosa ⚠
p.Arg347Cys Single submitter ⚠
p.Arg926His Single submitter epidermolysis bullosa, junctional 3A, intermediate ⚠
p.Asn964= Single submitter junctional epidermolysis bullosa
p.Gln1082= Single submitter junctional epidermolysis bullosa
p.Gln1137= Single submitter junctional epidermolysis bullosa
p.Glu1118= Single submitter junctional epidermolysis bullosa
p.Glu66Lys Single submitter junctional epidermolysis bullosa
p.Glu957Lys Single submitter epidermolysis bullosa, junctional 3A, intermediate ⚠
p.Gly1104Ser Single submitter Inborn genetic diseases ⚠
p.Gly358= Single submitter junctional epidermolysis bullosa
p.Gly806= Single submitter junctional epidermolysis bullosa
p.Gly998= Single submitter junctional epidermolysis bullosa
p.Ile383Val Single submitter junctional epidermolysis bullosa ⚠
p.Ile440Val Single submitter junctional epidermolysis bullosa ⚠
p.Leu633= Single submitter junctional epidermolysis bullosa Herlitz type
p.Met1053Lys Single submitter junctional epidermolysis bullosa ⚠
p.Met1Val Single submitter epidermolysis bullosa, junctional 3A, intermediate
p.Pro474= Single submitter junctional epidermolysis bullosa
p.Pro808Leu Single submitter Inborn genetic diseases ⚠
p.Thr297Ala Single submitter epidermolysis bullosa, junctional 3A, intermediate ⚠
p.Tyr265= Single submitter junctional epidermolysis bullosa
p.Val480Met Single submitter Inborn genetic diseases ⚠

Benign 76

c.1066+12C>A Multiple submitters junctional epidermolysis bullosa
c.1286-283C>T Multiple submitters
c.1469-204A>G Multiple submitters
c.1714+74G>A Multiple submitters
c.2301-233G>A Multiple submitters
c.268+14A>G Multiple submitters junctional epidermolysis bullosa
c.268+39G>A Multiple submitters
c.268+53A>G Multiple submitters
c.269-64C>T Multiple submitters
c.3069+144T>G Multiple submitters
c.3069+147T>C Multiple submitters
c.3070-89C>A Multiple submitters
c.3070-96C>T Multiple submitters
c.3328+107A>G Multiple submitters
c.3329-111C>A Multiple submitters
c.404+125T>G Multiple submitters
c.405-31T>C Multiple submitters junctional epidermolysis bullosa Herlitz type
c.641-80C>T Multiple submitters junctional epidermolysis bullosa, non-Herlitz type
c.79+134C>A Multiple submitters
c.79+151C>A Multiple submitters
c.953+37A>G Multiple submitters
c.954-124A>G Multiple submitters
c.-183G>A Multiple submitters junctional epidermolysis bullosa
c.-260C>A Multiple submitters junctional epidermolysis bullosa
c.-6C>A Multiple submitters junctional epidermolysis bullosa
c.-89A>G Multiple submitters junctional epidermolysis bullosa
c.*133C>A Multiple submitters junctional epidermolysis bullosa
c.*13T>G Multiple submitters junctional epidermolysis bullosa Herlitz type
c.*310G>A Multiple submitters junctional epidermolysis bullosa
c.*746G>T Multiple submitters junctional epidermolysis bullosa
c.*875G>T Multiple submitters junctional epidermolysis bullosa
p.Ala111Pro Multiple submitters junctional epidermolysis bullosa
p.Asp136Val Multiple submitters junctional epidermolysis bullosa
p.Gln896= Multiple submitters junctional epidermolysis bullosa
p.Gly266= Multiple submitters junctional epidermolysis bullosa
p.Leu1123= Multiple submitters junctional epidermolysis bullosa
p.Leu679Phe Multiple submitters junctional epidermolysis bullosa
p.Ser733Thr Multiple submitters junctional epidermolysis bullosa
p.Ser99= Multiple submitters junctional epidermolysis bullosa
p.Thr124Met Multiple submitters junctional epidermolysis bullosa ⚠
p.Val161= Multiple submitters junctional epidermolysis bullosa
c.1066+226G>A Single submitter
c.1285+166C>A Single submitter
c.1285+182C>A Single submitter
c.1286-11_1286-9del Single submitter
c.1468+219C>T Single submitter
c.1714+259C>T Single submitter
c.2301-12dup Single submitter
c.2456+139G>T Single submitter
c.2457-115C>T Single submitter
c.2457-54del Single submitter
c.2457-55_2457-54del Single submitter
c.2457-9del Single submitter
c.268+250T>C Single submitter
c.269-160C>T Single submitter
c.2755-336C>G Single submitter
c.404+237C>T Single submitter
c.641-295_641-294insG Single submitter
c.763+303C>T Single submitter
c.79+150del Single submitter
c.80-31del Single submitter
c.80-31dup Single submitter
c.80-32_80-31dup Single submitter
c.80-33_80-31dup Single submitter
c.*1097C>T Single submitter junctional epidermolysis bullosa
c.*1235G>C Single submitter junctional epidermolysis bullosa
c.*362T>C Single submitter junctional epidermolysis bullosa
c.*600A>G Single submitter junctional epidermolysis bullosa
c.*749G>A Single submitter junctional epidermolysis bullosa
c.*856C>T Single submitter junctional epidermolysis bullosa
c.*928A>G Single submitter junctional epidermolysis bullosa
p.Leu16= Single submitter
p.Leu319= Single submitter
p.Met624Ile Single submitter
p.Pro227Ser Single submitter
p.Ser825= Single submitter

Benign/Likely benign 13

c.1469-18T>C Multiple submitters
c.2601+17T>C Multiple submitters
c.269-15C>T Multiple submitters junctional epidermolysis bullosa
c.2754+9T>C Multiple submitters junctional epidermolysis bullosa
p.Ala497= Multiple submitters junctional epidermolysis bullosa
p.Arg115Gln Multiple submitters junctional epidermolysis bullosa
p.Arg857Pro Multiple submitters epidermolysis bullosa, junctional 3A, intermediate
p.Asn912= Multiple submitters junctional epidermolysis bullosa
p.Asp662= Multiple submitters
p.Leu294= Multiple submitters junctional epidermolysis bullosa
p.Pro1182= Multiple submitters junctional epidermolysis bullosa
p.Thr1069Met Multiple submitters junctional epidermolysis bullosa
p.Thr990= Multiple submitters

Likely benign 623

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

c.1066+12C>T Multiple submitters
c.1067-8G>A Multiple submitters
c.2014+8A>G Multiple submitters
c.2015-6G>A Multiple submitters
c.268+16G>A Multiple submitters
c.3070-157A>G Multiple submitters
p.Ala546= Multiple submitters
p.Arg197Cys Multiple submitters junctional epidermolysis bullosa ⚠
p.Arg717Gln Multiple submitters
p.Asn85= Multiple submitters
p.Cys550= Multiple submitters
p.Gln759= Multiple submitters
p.Gly32= Multiple submitters
p.Gly387= Multiple submitters
p.Gly421Glu Multiple submitters junctional epidermolysis bullosa
p.Ser807= Multiple submitters
c.1066+10T>C Single submitter
c.1066+12C>G Single submitter
c.1066+13G>A Single submitter
c.1066+17A>G Single submitter
c.1066+20T>G Single submitter
c.1066+9C>T Single submitter
c.1067-12T>C Single submitter
c.1067-14_1067-12dup Single submitter
c.1067-5T>C Single submitter
c.1067-7A>G Single submitter
c.1067-9C>T Single submitter
c.1285+16C>A Single submitter
c.1285+16C>T Single submitter
c.1285+17C>T Single submitter
c.1285+20G>C Single submitter
c.1286-10C>T Single submitter
c.1286-11C>T Single submitter
c.1286-19A>G Single submitter
c.1286-4C>G Single submitter
c.1286-6C>A Single submitter
c.1286-9T>G Single submitter
c.1468+10_1468+25del Single submitter
c.1468+10T>C Single submitter
c.1468+13G>T Single submitter
c.1468+15C>A Single submitter
c.1468+15C>G Single submitter
c.1468+16T>A Single submitter
c.1468+17G>A Single submitter
c.1468+19T>C Single submitter
c.1468+20C>T Single submitter
c.1468+7C>T Single submitter
c.1468+9A>C Single submitter
c.1469-17C>A Single submitter
c.1469-7T>C Single submitter
c.1469-8C>A Single submitter
c.1714+10C>T Single submitter
c.1714+13C>T Single submitter
c.1714+14C>T Single submitter
c.1714+15C>G Single submitter
c.1714+8T>A Single submitter
c.1714+9C>T Single submitter
c.1715-15G>A Single submitter
c.1715-4C>G Single submitter
c.1715-4C>T Single submitter
c.1715-5T>C Single submitter
c.1715-6C>T Single submitter
c.1715-8_1715-7del Single submitter
c.1715-8G>C Single submitter
c.1715-9_1715-3del Single submitter
c.1857+19A>G Single submitter
c.1857+7A>C Single submitter
c.1858-10G>A Single submitter
c.1858-12G>A Single submitter
c.1858-15C>T Single submitter
c.1858-7G>A Single submitter
c.2014+14A>G Single submitter
c.2014+9G>A Single submitter
c.2015-15C>T Single submitter
c.2015-16C>T Single submitter
c.2015-18T>A Single submitter
c.2015-4T>A Single submitter
c.2015-6G>T Single submitter
c.2015-7C>T Single submitter
c.2015-8G>A Single submitter
c.2015-9T>C Single submitter
c.2220+13T>C Single submitter
c.2220+16G>C Single submitter
c.2220+19A>G Single submitter
c.2221-14del Single submitter
c.2221-14T>G Single submitter
c.2221-18A>G Single submitter
c.2221-19G>T Single submitter
c.2221-20C>T Single submitter
c.2221-5C>T Single submitter
c.2221-6C>T Single submitter
c.2300+14G>C Single submitter
c.2300+16G>A Single submitter
c.2300+16G>C Single submitter
c.2300+18G>A Single submitter
c.2300+7A>C Single submitter
c.2300+8G>A Single submitter
c.2301-11A>G Single submitter
c.2301-16T>A Single submitter
c.2301-20T>C Single submitter
c.2301-7C>T Single submitter
c.2456+12C>T Single submitter
c.2456+14G>C Single submitter
c.2456+19T>G Single submitter
c.2457-11C>T Single submitter
c.2457-13C>A Single submitter
c.2457-15C>T Single submitter
c.2457-17C>T Single submitter
c.2457-18C>T Single submitter
c.2457-4C>T Single submitter
c.2457-6C>A Single submitter
c.2457-9C>T Single submitter
c.2601+13G>A Single submitter
c.2601+13G>C Single submitter
c.2601+16C>A Single submitter
c.2601+20G>A Single submitter
c.2601+7G>A Single submitter
c.2601+9A>G Single submitter
c.2602-19G>A Single submitter
c.2602-7C>T Single submitter
c.268+10A>G Single submitter
c.268+9A>G Single submitter
c.269-11G>T Single submitter
c.269-17T>C Single submitter
c.269-20C>T Single submitter
c.2754+18C>T Single submitter
c.2755-7_2755-5del Single submitter
c.2755-8T>C Single submitter
c.2869+11C>T Single submitter
c.2869+18C>T Single submitter
c.2869+9T>A Single submitter
c.2870-10T>C Single submitter
c.2870-10T>G Single submitter
c.2870-16C>A Single submitter
c.2870-17T>C Single submitter
c.2870-7A>C Single submitter
c.2870-7A>G Single submitter
c.3069+12T>G Single submitter
c.3069+13C>T Single submitter
c.3069+14G>A Single submitter
c.3069+18T>C Single submitter
c.3069+8G>T Single submitter
c.3070-10C>T Single submitter
c.3070-12T>G Single submitter
c.3070-19G>C Single submitter
c.3070-20G>C Single submitter
c.3070-5C>T Single submitter
c.3070-6T>C Single submitter
c.3070-8T>C Single submitter
c.3228+14G>A Single submitter
c.3228+8C>T Single submitter
c.3229-15C>A Single submitter
c.3229-19T>G Single submitter
c.3229-8G>A Single submitter
c.3229-8G>T Single submitter
c.3229-9T>C Single submitter
c.3328+10C>A Single submitter
c.3328+11C>T Single submitter
c.3328+14C>A Single submitter
c.3328+16A>G Single submitter
c.3328+16A>T Single submitter
c.3328+25C>T Single submitter
c.3328+8A>G Single submitter
c.3328+8AACCCAC[3] Single submitter junctional epidermolysis bullosa Herlitz type
c.3328+9A>T Single submitter
c.3329-11C>A Single submitter
c.3329-17C>T Single submitter
c.404+20C>T Single submitter
c.404+20del Single submitter
c.405-11T>C Single submitter
c.405-19T>G Single submitter
c.405-4C>A Single submitter
c.405-5C>T Single submitter
c.405-6C>T Single submitter
c.405-7T>C Single submitter
c.503+13C>T Single submitter
c.504-10G>A Single submitter
c.504-14C>T Single submitter
c.504-15A>G Single submitter
c.504-17C>A Single submitter
c.504-18T>C Single submitter
c.504-4G>T Single submitter
c.504-7A>G Single submitter
c.640+12T>C Single submitter
c.640+13A>G Single submitter
c.640+7C>T Single submitter
c.640+8C>T Single submitter
c.641-10dup Single submitter
c.641-12T>C Single submitter
c.641-16del Single submitter
c.641-16T>A Single submitter
c.641-16T>G Single submitter
c.641-19G>A Single submitter
c.641-8T>C Single submitter
c.763+10G>A Single submitter
c.763+15A>G Single submitter
c.763+19C>A Single submitter
c.764-11_764-10del Single submitter
c.764-13C>T Single submitter
c.764-9G>T Single submitter
c.79+10C>T Single submitter
c.79+15A>G Single submitter
c.79+7C>A Single submitter
c.79+7C>G Single submitter
c.79+8G>T Single submitter
c.80-14T>C Single submitter
c.80-16T>C Single submitter
c.80-18T>C Single submitter
c.80-4C>T Single submitter
c.80-5C>T Single submitter
c.80-7T>C Single submitter
c.80-8C>T Single submitter
c.80-9C>T Single submitter
c.953+12G>A Single submitter
c.953+14C>A Single submitter
c.953+15C>T Single submitter
c.953+16A>G Single submitter
c.953+18A>G Single submitter
c.953+7AG[2] Single submitter
c.953+8G>T Single submitter
c.954-12T>A Single submitter
c.954-16A>G Single submitter
c.954-18T>G Single submitter
c.954-4G>T Single submitter
c.954-6A>G Single submitter
c.954-6A>T Single submitter
c.*1011T>C Single submitter junctional epidermolysis bullosa
c.*1324C>T Single submitter junctional epidermolysis bullosa
c.*848C>T Single submitter junctional epidermolysis bullosa
c.*875G>A Single submitter junctional epidermolysis bullosa
c.*999C>G Single submitter junctional epidermolysis bullosa
p.Ala1000= Single submitter
p.Ala1014= Single submitter
p.Ala1032= Single submitter
p.Ala1039= Single submitter
p.Ala1047= Single submitter
p.Ala1073= Single submitter
p.Ala1088= Single submitter
p.Ala1149= Single submitter
p.Ala152= Single submitter
p.Ala194= Single submitter
p.Ala243= Single submitter
p.Ala253= Single submitter
p.Ala3= Single submitter
p.Ala345= Single submitter
p.Ala368= Single submitter
p.Ala374= Single submitter
p.Ala423= Single submitter
p.Ala443= Single submitter
p.Ala567= Single submitter
p.Ala572= Single submitter
p.Ala606= Single submitter
p.Ala667= Single submitter
p.Ala707= Single submitter
p.Ala744= Single submitter
p.Ala765= Single submitter
p.Ala789= Single submitter
p.Ala796= Single submitter
p.Ala811= Single submitter
p.Ala837= Single submitter
p.Ala841= Single submitter
p.Ala871= Single submitter
p.Ala934= Single submitter
p.Ala937= Single submitter
p.Ala967= Single submitter
p.Ala972= Single submitter
p.Arg101= Single submitter
p.Arg1087= Single submitter
p.Arg1129= Single submitter
p.Arg1139= Single submitter
p.Arg1148= Single submitter
p.Arg1177= Single submitter
p.Arg165= Single submitter
p.Arg197= Single submitter
p.Arg20= Single submitter
p.Arg24= Single submitter
p.Arg25= Single submitter
p.Arg280= Single submitter
p.Arg295= Single submitter
p.Arg295Trp Single submitter junctional epidermolysis bullosa Herlitz type ⚠
p.Arg337= Single submitter
p.Arg341= Single submitter
p.Arg402= Single submitter
p.Arg41= Single submitter
p.Arg45= Single submitter
p.Arg492= Single submitter
p.Arg512= Single submitter
p.Arg533= Single submitter
p.Arg571= Single submitter
p.Arg629= Single submitter
p.Arg685= Single submitter
p.Arg694Cys Single submitter ⚠
p.Arg704= Single submitter
p.Arg706= Single submitter
p.Arg74= Single submitter
p.Arg780= Single submitter
p.Arg832= Single submitter
p.Arg850= Single submitter
p.Arg857= Single submitter
p.Arg887= Single submitter

Uncertain significance 257

c.2014+5T>C Multiple submitters
c.503+6T>C Multiple submitters junctional epidermolysis bullosa
c.*275A>C Multiple submitters junctional epidermolysis bullosa
p.Ala405Val Multiple submitters junctional epidermolysis bullosa Herlitz type ⚠
p.Arg1150His Multiple submitters junctional epidermolysis bullosa ⚠
p.Arg894His Multiple submitters junctional epidermolysis bullosa ⚠
p.Asp247His Multiple submitters Inborn genetic diseases ⚠
p.Cys519Arg Multiple submitters junctional epidermolysis bullosa ⚠
p.Gln1005Arg Multiple submitters Inborn genetic diseases ⚠
p.Glu1160Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu26= Multiple submitters
p.Glu671Val Multiple submitters ⚠
p.Gly278Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly672Ala Multiple submitters Inborn genetic diseases ⚠
p.His1107Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile447Val Multiple submitters Inborn genetic diseases ⚠
p.Ile839Ser Multiple submitters Inborn genetic diseases ⚠
p.Leu852Pro Multiple submitters junctional epidermolysis bullosa ⚠
p.Lys989Asn Multiple submitters Inborn genetic diseases ⚠
p.Pro595Gln Multiple submitters Inborn genetic diseases ⚠
p.Ser283Pro Multiple submitters ⚠
p.Ser883Arg Multiple submitters Inborn genetic diseases ⚠
c.1468+5G>A Single submitter
c.2220+4G>C Single submitter
c.2456+6T>G Single submitter
c.268+5C>A Single submitter
c.2754+3_2754+4del Single submitter
c.3328+5G>C Single submitter
c.-140T>G Single submitter junctional epidermolysis bullosa
c.-15C>T Single submitter junctional epidermolysis bullosa
c.-256G>C Single submitter junctional epidermolysis bullosa
c.-262T>C Single submitter junctional epidermolysis bullosa
c.-277G>A Single submitter junctional epidermolysis bullosa
c.-79G>A Single submitter junctional epidermolysis bullosa
c.*1008C>T Single submitter junctional epidermolysis bullosa
c.*1021C>T Single submitter junctional epidermolysis bullosa
c.*1031A>G Single submitter junctional epidermolysis bullosa
c.*1053C>T Single submitter junctional epidermolysis bullosa
c.*1059G>A Single submitter junctional epidermolysis bullosa
c.*1067C>T Single submitter junctional epidermolysis bullosa
c.*1138T>C Single submitter junctional epidermolysis bullosa
c.*1139A>T Single submitter junctional epidermolysis bullosa
c.*1199G>A Single submitter junctional epidermolysis bullosa
c.*1244C>G Single submitter junctional epidermolysis bullosa
c.*1265G>C Single submitter junctional epidermolysis bullosa
c.*1398C>T Single submitter junctional epidermolysis bullosa
c.*1456T>C Single submitter junctional epidermolysis bullosa
c.*1482A>G Single submitter junctional epidermolysis bullosa
c.*1617A>G Single submitter junctional epidermolysis bullosa
c.*1637G>A Single submitter junctional epidermolysis bullosa
c.*1647A>G Single submitter junctional epidermolysis bullosa
c.*1650A>G Single submitter junctional epidermolysis bullosa
c.*1674T>A Single submitter junctional epidermolysis bullosa
c.*1686G>A Single submitter junctional epidermolysis bullosa
c.*1700G>A Single submitter junctional epidermolysis bullosa
c.*200G>A Single submitter junctional epidermolysis bullosa
c.*297C>A Single submitter junctional epidermolysis bullosa
c.*400T>C Single submitter junctional epidermolysis bullosa
c.*405C>T Single submitter junctional epidermolysis bullosa
c.*593A>G Single submitter junctional epidermolysis bullosa
c.*630C>G Single submitter junctional epidermolysis bullosa
c.*816A>T Single submitter junctional epidermolysis bullosa
c.*846T>C Single submitter junctional epidermolysis bullosa
c.*976C>A Single submitter junctional epidermolysis bullosa
c.*986T>A Single submitter junctional epidermolysis bullosa
p.Ala1032Thr Single submitter Inborn genetic diseases ⚠
p.Ala1036Thr Single submitter Inborn genetic diseases ⚠
p.Ala1047Asp Single submitter Inborn genetic diseases ⚠
p.Ala1081Val Single submitter ⚠
p.Ala1168Asp Single submitter junctional epidermolysis bullosa ⚠
p.Ala1189Gly Single submitter Inborn genetic diseases ⚠
p.Ala1189Thr Single submitter Inborn genetic diseases ⚠
p.Ala126Gly Single submitter Inborn genetic diseases ⚠
p.Ala126Val Single submitter Inborn genetic diseases ⚠
p.Ala144Pro Single submitter Inborn genetic diseases ⚠
p.Ala152Thr Single submitter Inborn genetic diseases ⚠
p.Ala19Ser Single submitter Inborn genetic diseases ⚠
p.Ala200Ser Single submitter Inborn genetic diseases ⚠
p.Ala423Asp Single submitter junctional epidermolysis bullosa ⚠
p.Ala527Gly Single submitter Inborn genetic diseases ⚠
p.Ala546_Cys550del Single submitter
p.Ala761Asp Single submitter Inborn genetic diseases ⚠
p.Ala878Val Single submitter Inborn genetic diseases ⚠
p.Ala943Asp Single submitter Inborn genetic diseases ⚠
p.Arg101Gln Single submitter Inborn genetic diseases ⚠
p.Arg101Trp Single submitter junctional epidermolysis bullosa Herlitz type ⚠
p.Arg1087Lys Single submitter Inborn genetic diseases ⚠
p.Arg1129Gln Single submitter Inborn genetic diseases ⚠
p.Arg1139Gln Single submitter Inborn genetic diseases ⚠
p.Arg1139Trp Single submitter ⚠
p.Arg1150Cys Single submitter junctional epidermolysis bullosa ⚠
p.Arg115Gly Single submitter Inborn genetic diseases ⚠
p.Arg1177Lys Single submitter Inborn genetic diseases ⚠
p.Arg154Cys Single submitter Inborn genetic diseases ⚠
p.Arg154His Single submitter junctional epidermolysis bullosa ⚠
p.Arg165His Single submitter Inborn genetic diseases ⚠
p.Arg170Gln Single submitter Inborn genetic diseases ⚠
p.Arg170Pro Single submitter Inborn genetic diseases ⚠
p.Arg20Trp Single submitter Inborn genetic diseases ⚠
p.Arg235His Single submitter Inborn genetic diseases ⚠
p.Arg24Gly Single submitter Inborn genetic diseases ⚠
p.Arg25Lys Single submitter Inborn genetic diseases ⚠
p.Arg274Cys Single submitter Inborn genetic diseases ⚠
p.Arg318Gly Single submitter ⚠
p.Arg337Gln Single submitter Inborn genetic diseases ⚠
p.Arg347His Single submitter Inborn genetic diseases ⚠
p.Arg349Gln Single submitter Inborn genetic diseases ⚠
p.Arg457Cys Single submitter Inborn genetic diseases ⚠
p.Arg45Gly Single submitter Inborn genetic diseases ⚠
p.Arg492His Single submitter Inborn genetic diseases ⚠
p.Arg533Gln Single submitter Inborn genetic diseases ⚠
p.Arg533Pro Single submitter Inborn genetic diseases ⚠
p.Arg533Trp Single submitter junctional epidermolysis bullosa ⚠
p.Arg571Gln Single submitter Inborn genetic diseases ⚠
p.Arg586Gln Single submitter Inborn genetic diseases ⚠
p.Arg652Ser Single submitter Inborn genetic diseases ⚠
p.Arg694His Single submitter junctional epidermolysis bullosa ⚠
p.Arg704Ser Single submitter Inborn genetic diseases ⚠
p.Arg763Gly Single submitter Inborn genetic diseases ⚠
p.Arg78Gly Single submitter Inborn genetic diseases ⚠
p.Arg794Cys Single submitter Inborn genetic diseases ⚠
p.Arg80Cys Single submitter Inborn genetic diseases ⚠
p.Arg843Ser Single submitter junctional epidermolysis bullosa ⚠
p.Arg850Cys Single submitter Inborn genetic diseases ⚠
p.Arg857Gly Single submitter Inborn genetic diseases ⚠
p.Arg857Trp Single submitter Inborn genetic diseases ⚠
p.Arg887Ser Single submitter Inborn genetic diseases ⚠
p.Arg887Thr Single submitter Inborn genetic diseases ⚠
p.Asn1029Thr Single submitter ⚠
p.Asn31Ser Single submitter ⚠
p.Asn522Ser Single submitter Inborn genetic diseases ⚠
p.Asn574Ser Single submitter Inborn genetic diseases ⚠
p.Asn57Asp Single submitter Inborn genetic diseases ⚠
p.Asn752Ile Single submitter Inborn genetic diseases ⚠
p.Asn85Ser Single submitter Inborn genetic diseases ⚠
p.Asn928Ser Single submitter Inborn genetic diseases ⚠
p.Asp1116Tyr Single submitter junctional epidermolysis bullosa ⚠
p.Asp1178Asn Single submitter Inborn genetic diseases ⚠
p.Asp167His Single submitter Inborn genetic diseases
p.Asp272Gly Single submitter junctional epidermolysis bullosa Herlitz type ⚠
p.Asp395Gly Single submitter Inborn genetic diseases ⚠
p.Asp452Asn Single submitter Inborn genetic diseases ⚠
p.Asp455Asn Single submitter Inborn genetic diseases ⚠
p.Asp524Glu Single submitter Inborn genetic diseases ⚠
p.Asp532Tyr Single submitter Inborn genetic diseases
p.Asp568His Single submitter Inborn genetic diseases ⚠
p.Asp641Val Single submitter Inborn genetic diseases ⚠
p.Asp809Tyr Single submitter Inborn genetic diseases ⚠
p.Asp921Tyr Single submitter Inborn genetic diseases ⚠
p.Asp963Asn Single submitter Inborn genetic diseases ⚠
p.Asp988Glu Single submitter Inborn genetic diseases ⚠
p.Cys104Tyr Single submitter Inborn genetic diseases ⚠
p.Cys141Trp Single submitter Inborn genetic diseases ⚠
p.Cys189Phe Single submitter Inborn genetic diseases ⚠
p.Cys396Arg Single submitter ⚠
p.Cys396Trp Single submitter Inborn genetic diseases ⚠
p.Cys553Tyr Single submitter Inborn genetic diseases ⚠
p.Gln132Arg Single submitter ⚠
p.Gln237Lys Single submitter Inborn genetic diseases ⚠
p.Gln419His Single submitter Inborn genetic diseases ⚠
p.Gln658Glu Single submitter Inborn genetic diseases ⚠
p.Gln788Lys Single submitter Inborn genetic diseases ⚠
p.Gln922Arg Single submitter Inborn genetic diseases ⚠
p.Glu1057Lys Single submitter Inborn genetic diseases ⚠
p.Glu1146Asp Single submitter epidermolysis bullosa, junctional 3B, severe ⚠
p.Glu164Lys Single submitter Inborn genetic diseases ⚠
p.Glu321Lys Single submitter epidermolysis bullosa, junctional 3B, severe
p.Glu507Lys Single submitter Inborn genetic diseases ⚠
p.Glu581Asp Single submitter Inborn genetic diseases ⚠
p.Glu631Gln Single submitter Inborn genetic diseases ⚠
p.Glu760Lys Single submitter junctional epidermolysis bullosa Herlitz type ⚠
p.Glu776Gly Single submitter Inborn genetic diseases ⚠
p.Gly1104Cys Single submitter Inborn genetic diseases ⚠
p.Gly145Ser Single submitter ⚠
p.Gly304Ser Single submitter Inborn genetic diseases ⚠
p.Gly420Ala Single submitter junctional epidermolysis bullosa ⚠
p.Gly420Glu Single submitter Inborn genetic diseases ⚠
p.Gly490Ala Single submitter Inborn genetic diseases ⚠
p.Gly559Arg Single submitter junctional epidermolysis bullosa ⚠
p.Gly599Val Single submitter ⚠
p.Gly62Asp Single submitter ⚠
p.Gly709Glu Single submitter Inborn genetic diseases ⚠
p.Gly802Arg Single submitter Inborn genetic diseases ⚠
p.Gly806Ser Single submitter Inborn genetic diseases ⚠
p.Gly815Arg Single submitter ⚠
p.Gly941Val Single submitter Inborn genetic diseases ⚠
p.His1107Gln Single submitter Inborn genetic diseases ⚠
p.His205Arg Single submitter ⚠
p.His281Tyr Single submitter Inborn genetic diseases ⚠
p.Ile1176Val Single submitter ⚠
p.Ile296Phe Single submitter Inborn genetic diseases ⚠
p.Ile360Val Single submitter Inborn genetic diseases ⚠
p.Ile366Thr Single submitter Inborn genetic diseases ⚠
p.Ile447Thr Single submitter Inborn genetic diseases ⚠
p.Ile542Thr Single submitter Inborn genetic diseases ⚠
p.Ile663Val Single submitter Inborn genetic diseases ⚠
p.Ile669Thr Single submitter Inborn genetic diseases ⚠
p.Ile742Val Single submitter Inborn genetic diseases ⚠
p.Ile874Ser Single submitter Inborn genetic diseases ⚠
p.Ile979Asn Single submitter Inborn genetic diseases ⚠
p.Ile979Leu Single submitter Inborn genetic diseases
p.Leu1065Met Single submitter Inborn genetic diseases ⚠
p.Leu1156Ile Single submitter Inborn genetic diseases ⚠
p.Leu134Val Single submitter Inborn genetic diseases ⚠
p.Leu311Val Single submitter Inborn genetic diseases ⚠
p.Leu331Met Single submitter Inborn genetic diseases ⚠
p.Leu346Val Single submitter junctional epidermolysis bullosa ⚠
p.Leu816Pro Single submitter Inborn genetic diseases ⚠
p.Leu849Phe Single submitter junctional epidermolysis bullosa ⚠
p.Leu997Met Single submitter Inborn genetic diseases ⚠
p.Lys256Arg Single submitter Inborn genetic diseases ⚠
p.Lys256Ile Single submitter Inborn genetic diseases
p.Lys460Glu Single submitter Inborn genetic diseases ⚠
p.Lys893Asn Single submitter Inborn genetic diseases ⚠
p.Lys897Asn Single submitter Inborn genetic diseases ⚠
p.Lys931Glu Single submitter Inborn genetic diseases ⚠
p.Lys974del Single submitter
p.Met1053Ile Single submitter Inborn genetic diseases ⚠
p.Met1109Thr Single submitter Inborn genetic diseases ⚠
p.Met122Arg Single submitter Inborn genetic diseases ⚠
p.Met473Thr Single submitter Inborn genetic diseases ⚠
p.Met940Thr Single submitter Inborn genetic diseases ⚠
p.Phe257Tyr Single submitter Inborn genetic diseases ⚠
p.Phe505Ser Single submitter Inborn genetic diseases ⚠
p.Pro1112Ala Single submitter Inborn genetic diseases ⚠
p.Pro143Thr Single submitter Inborn genetic diseases ⚠
p.Pro299Thr Single submitter Inborn genetic diseases ⚠
p.Pro370Leu Single submitter Inborn genetic diseases ⚠
p.Pro808Gln Single submitter Inborn genetic diseases ⚠
p.Ser1162Asn Single submitter Inborn genetic diseases ⚠
p.Ser268Thr Single submitter Inborn genetic diseases ⚠
p.Ser34Phe Single submitter Inborn genetic diseases ⚠
p.Ser356Gly Single submitter junctional epidermolysis bullosa ⚠
p.Ser433Leu Single submitter Inborn genetic diseases ⚠
p.Ser587Asn Single submitter Inborn genetic diseases ⚠
p.Ser635Ala Single submitter Inborn genetic diseases ⚠
p.Ser773Asn Single submitter epidermolysis bullosa, junctional 3B, severe ⚠
p.Ser805Ile Single submitter Inborn genetic diseases ⚠
p.Ser807Gly Single submitter Inborn genetic diseases ⚠
p.Ser999Arg Single submitter Inborn genetic diseases ⚠
p.Ser999Asn Single submitter Inborn genetic diseases ⚠
p.Thr297Ile Single submitter Inborn genetic diseases ⚠
p.Thr344= Single submitter junctional epidermolysis bullosa
p.Thr886= Single submitter junctional epidermolysis bullosa
p.Tyr1185Cys Single submitter Inborn genetic diseases ⚠
p.Val1056Met Single submitter junctional epidermolysis bullosa ⚠
p.Val215Ile Single submitter ⚠
p.Val27Ala Single submitter junctional epidermolysis bullosa ⚠
p.Val479Ala Single submitter Inborn genetic diseases ⚠
p.Val523Leu Single submitter Inborn genetic diseases ⚠
p.Val702Gly Single submitter Inborn genetic diseases ⚠
p.Val812Gly Single submitter Inborn genetic diseases ⚠
c.2456+2dup No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Glu905del No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Lys982del No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Ser805_Ser807del No assertion criteria junctional epidermolysis bullosa Herlitz type
p.Ser807Asn No assertion criteria