TMC8 — 572 ClinVar variants

All ClinVar germline TMC8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 231 flagged for review →

20 Pathogenic · 1 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 14 Conflicting · 39 Benign · 13 Benign/Likely benign · 228 Likely benign · 249 Uncertain significance

Full TMC8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 231

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 10

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

TMC8 p.Arg222Gln Conflicting Single submitter
Inborn genetic diseases
TMC8 p.Arg295His Conflicting Single submitter
epidermodysplasia verruciformis
TMC8 p.Arg455Gln Conflicting Single submitter
epidermodysplasia verruciformis
TMC8 p.Arg459Trp Conflicting Single submitter
epidermodysplasia verruciformis
TMC8 p.Arg519Lys Conflicting Single submitter
epidermodysplasia verruciformis
TMC8 p.Arg86Gly Conflicting Single submitter
Inborn genetic diseases
TMC8 p.Pro661Leu Conflicting Single submitter
epidermodysplasia verruciformis, susceptibility to, 2
TMC8 p.Val390Ile Conflicting Single submitter
epidermodysplasia verruciformis
TMC8 p.Val413Phe Conflicting Single submitter
Inborn genetic diseases
TMC8 p.Val615Ile Conflicting Single submitter
epidermodysplasia verruciformis

Predictors lean, ClinVar uncertain 180

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 180

TMC8 p.Ala188Val Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Ala290Thr Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Ala313Val Uncertain significance Multiple submitters
Inborn genetic diseases
TMC8 p.Ala316Thr Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Ala345Thr Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Ala520Thr Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Ala598Thr Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Arg157Cys Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Arg202Cys Uncertain significance Multiple submitters
Inborn genetic diseases
TMC8 p.Arg202His Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Arg223Trp Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Arg255Gln Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Arg279His Uncertain significance Multiple submitters
Inborn genetic diseases
TMC8 p.Arg289Trp Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Arg301Trp Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Arg459Gln Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Arg466Trp Uncertain significance Multiple submitters
Inborn genetic diseases
TMC8 p.Arg629Gln Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Arg719His Uncertain significance Multiple submitters
Inborn genetic diseases
TMC8 p.Asn412Ser Uncertain significance Multiple submitters
Inborn genetic diseases
TMC8 p.Glu274Asp Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.His626Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
TMC8 p.Ile399Thr Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Leu206Phe Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Leu305Phe Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Leu84Val Uncertain significance Multiple submitters
Inborn genetic diseases
TMC8 p.Lys231Asn Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Met606Ile Uncertain significance Multiple submitters
Inborn genetic diseases
TMC8 p.Pro143Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TMC8 p.Pro154His Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Pro209Leu Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Pro229Leu Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Ser596Cys Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Thr292Met Uncertain significance Multiple submitters
Inborn genetic diseases
TMC8 p.Thr321Ala Uncertain significance Multiple submitters
Inborn genetic diseases
TMC8 p.Thr368Met Uncertain significance Multiple submitters
Inborn genetic diseases
TMC8 p.Thr612Met Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Val370Ile Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Val471Leu Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Val579Met Uncertain significance Multiple submitters
Inborn genetic diseases
TMC8 p.Ala178Asp Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Ala178Gly Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Ala240Val Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Ala244Thr Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Ala440Val Uncertain significance Single submitter
TMC8 p.Ala442Thr Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Ala442Val Uncertain significance Single submitter
epidermodysplasia verruciformis, susceptibility to, 1
TMC8 p.Ala480Glu Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Ala480Val Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Ala546Val Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Ala570Ser Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Ala580Thr Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Ala598Asp Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Ala665Val Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Ala688Pro Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Ala698Thr Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Ala711Val Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Ala715Ser Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Ala85Asp Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Ala94Ser Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Arg165Ser Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Arg190Gln Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Arg279Leu Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Arg280His Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Arg289Gln Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Arg295Cys Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Arg295Gly Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Arg301Pro Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Arg459Gly Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Arg466Gln Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Arg523Gln Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Arg589His Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Arg670Leu Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Arg702Cys Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Arg702His Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Arg716His Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Arg86Trp Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Asn168Ser Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Asn181Lys Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Asn269Lys Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Asn567Ser Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Asp326His Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Asp402Glu Uncertain significance Single submitter
epidermodysplasia verruciformis, susceptibility to, 1
TMC8 p.Asp454Tyr Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Asp561His Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Asp645Asn Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Cys418Trp Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Cys680Tyr Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Cys705Phe Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Gln158His Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Gln169Lys Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Gln287Glu Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Gln337Arg Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Gln394His Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Glu258Lys Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Glu270Lys Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Glu276Gly Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Glu330Lys Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Glu638Lys Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Gly187Asp Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Gly235Ala Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Gly237Ser Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Gly307Arg Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Gly342Val Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Gly410Ser Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Gly550Asp Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Gly707Glu Uncertain significance Single submitter
epidermodysplasia verruciformis, susceptibility to, 1
TMC8 p.Gly710Ser Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Gly87Arg Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Gly93Arg Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.His597Gln Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.His686Tyr Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Ile201Thr Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Ile267Met Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Ile314Thr Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Ile317Val Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Ile396Val Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Ile399Val Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Ile478Val Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Ile556Asn Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Leu206Val Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Leu215Phe Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Leu242Val Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Leu308Phe Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Leu470Arg Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Leu539Phe Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Leu604Phe Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Leu628Pro Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Leu90Phe Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Lys245Arg Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Lys322Asn Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Lys403Arg Uncertain significance Single submitter
TMC8 p.Lys403Asn Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Lys403Glu Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Lys473Arg Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Phe271Ile Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Phe349Ser Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Phe456Leu Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Pro141Thr Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Pro143Leu Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Pro145Ser Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Pro154Leu Uncertain significance Single submitter
TMC8 p.Pro160Leu Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Pro161Ala Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Pro365Leu Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Pro493Leu Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Pro576Leu Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Pro651Leu Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Pro659Ala Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Pro659Leu Uncertain significance Single submitter
epidermodysplasia verruciformis

Predictors split 41

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

TMC8 p.Arg589Cys Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Arg83Pro Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Cys398Arg Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Cys406Trp Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Gly342Trp Benign Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Gly563Ser Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC8 p.Lys473Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TMC8 p.Ser249Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TMC8 p.Thr483Met Uncertain significance Multiple submitters
Inborn genetic diseases
TMC8 p.Ala260Thr Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Arg279Cys Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Arg279Gly Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Arg280Cys Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Arg455Trp Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Arg523Trp Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Arg526Cys Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Arg526His Conflicting Single submitter
epidermodysplasia verruciformis
TMC8 p.Arg629Trp Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Asn421Lys Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Cys406Arg Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Glu468Val Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Gly488Ser Conflicting Single submitter
epidermodysplasia verruciformis
TMC8 p.Ile317Thr Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Leu296Pro Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Leu297Pro Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Leu447Gln Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Phe179Leu Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Phe355Leu Uncertain significance Single submitter
epidermodysplasia verruciformis, susceptibility to, 1
TMC8 p.Phe388Leu Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Phe435Cys Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Phe469Leu Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Phe674Leu Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Pro524Arg Likely benign Single submitter
Inborn genetic diseases
TMC8 p.Pro584Leu Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Ser528Pro Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Ser530Phe Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Ser554Arg Uncertain significance Single submitter
Inborn genetic diseases
TMC8 p.Ser558Phe Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Ser608Asn Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Thr150Ile Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC8 p.Trp250Arg Uncertain significance Single submitter
epidermodysplasia verruciformis

All TMC8 variants

Pathogenic 20

p.Arg190Ter Multiple submitters epidermodysplasia verruciformis
p.Arg295fs Multiple submitters epidermodysplasia verruciformis, susceptibility to, 2
p.Ala188fs Single submitter epidermodysplasia verruciformis
p.Asp142fs Single submitter epidermodysplasia verruciformis
p.Asp251fs Single submitter epidermodysplasia verruciformis
p.Gln236fs Single submitter epidermodysplasia verruciformis
p.Gln291fs Single submitter epidermodysplasia verruciformis
p.Glu330Ter Single submitter epidermodysplasia verruciformis
p.Glu362Ter Single submitter epidermodysplasia verruciformis
p.Glu425fs Single submitter epidermodysplasia verruciformis
p.Glu577Ter Single submitter epidermodysplasia verruciformis
p.Gly342fs Single submitter epidermodysplasia verruciformis
p.Leu221fs Single submitter epidermodysplasia verruciformis
p.Leu233fs Single submitter epidermodysplasia verruciformis
p.Leu300fs Single submitter epidermodysplasia verruciformis
p.Leu583fs Single submitter epidermodysplasia verruciformis
p.Lys403fs Single submitter epidermodysplasia verruciformis
p.Ser422fs Single submitter epidermodysplasia verruciformis
p.Val304fs Single submitter epidermodysplasia verruciformis, susceptibility to, 2
p.Val343fs Single submitter epidermodysplasia verruciformis

Pathogenic/Likely pathogenic 1

c.1824-1G>C Multiple submitters epidermodysplasia verruciformis

Likely pathogenic 8

c.449-1G>T Multiple submitters TMC8-related disorder
c.1128-2A>G Single submitter epidermodysplasia verruciformis
c.1534-1G>C Single submitter epidermodysplasia verruciformis
c.1664+1G>A Single submitter epidermodysplasia verruciformis
c.668+1G>A Single submitter epidermodysplasia verruciformis
c.669-2A>C Single submitter epidermodysplasia verruciformis
c.987+1G>A Single submitter epidermodysplasia verruciformis
c.987+2T>A Single submitter epidermodysplasia verruciformis

Conflicting classifications of pathogenicity 14

c.1128-6C>T Single submitter epidermodysplasia verruciformis
c.1534-8G>A Single submitter epidermodysplasia verruciformis
p.Arg222Gln Single submitter Inborn genetic diseases ⚠
p.Arg295His Single submitter epidermodysplasia verruciformis ⚠
p.Arg455Gln Single submitter epidermodysplasia verruciformis ⚠
p.Arg459Trp Single submitter epidermodysplasia verruciformis ⚠
p.Arg519Lys Single submitter epidermodysplasia verruciformis ⚠
p.Arg526His Single submitter epidermodysplasia verruciformis ⚠
p.Arg86Gly Single submitter Inborn genetic diseases ⚠
p.Gly488Ser Single submitter epidermodysplasia verruciformis ⚠
p.Pro661Leu Single submitter epidermodysplasia verruciformis, susceptibility to, 2 ⚠
p.Val390Ile Single submitter epidermodysplasia verruciformis ⚠
p.Val413Phe Single submitter Inborn genetic diseases ⚠
p.Val615Ile Single submitter epidermodysplasia verruciformis ⚠

Benign 39

c.1252-105C>T Multiple submitters
c.1252-52A>G Multiple submitters
c.1349+13G>A Multiple submitters epidermodysplasia verruciformis
c.1350-8C>T Multiple submitters epidermodysplasia verruciformis
c.1534-23G>A Multiple submitters
c.1665-5G>T Multiple submitters epidermodysplasia verruciformis
c.1823+15C>A Multiple submitters epidermodysplasia verruciformis
c.1824-95G>T Multiple submitters
c.1902+81G>A Multiple submitters
c.1902+91G>T Multiple submitters
c.448+73G>C Multiple submitters
c.531+83C>T Multiple submitters
c.532-127C>T Multiple submitters
c.532-145T>C Multiple submitters
c.532-148C>A Multiple submitters
c.668+13T>C Multiple submitters epidermodysplasia verruciformis
c.669-24A>C Multiple submitters
c.669-31C>T Multiple submitters
c.669-4G>C Multiple submitters epidermodysplasia verruciformis
c.987+29T>C Multiple submitters
c.988-4G>T Multiple submitters epidermodysplasia verruciformis, susceptibility to, 2
c.-187C>T Multiple submitters
c.-239G>C Multiple submitters
c.-309+144G>T Multiple submitters
c.*144C>G Multiple submitters
c.*284T>G Multiple submitters
p.Cys562= Multiple submitters epidermodysplasia verruciformis
p.Glu369= Multiple submitters epidermodysplasia verruciformis
p.Gly342Trp Multiple submitters epidermodysplasia verruciformis ⚠
p.Lys403= Multiple submitters epidermodysplasia verruciformis
c.1127+157G>A Single submitter
c.1128-490A>G Single submitter
c.1128-624T>C Single submitter
c.1534-3del Single submitter epidermodysplasia verruciformis
c.1823+20C>G Single submitter epidermodysplasia verruciformis
c.816+183G>A Single submitter
c.*225_*227del Single submitter
p.Leu308= Single submitter epidermodysplasia verruciformis
p.Lys272Glu Single submitter epidermodysplasia verruciformis

Benign/Likely benign 13

c.1350-14T>G Multiple submitters epidermodysplasia verruciformis
c.1350-16C>G Multiple submitters epidermodysplasia verruciformis
c.1665-19C>T Multiple submitters epidermodysplasia verruciformis
c.988-4G>A Multiple submitters epidermodysplasia verruciformis
c.*5T>G Multiple submitters epidermodysplasia verruciformis, susceptibility to, 2
p.Arg222Trp Multiple submitters epidermodysplasia verruciformis
p.Arg223Gln Multiple submitters epidermodysplasia verruciformis
p.Asn306= Multiple submitters epidermodysplasia verruciformis
p.Asn306Ile Multiple submitters epidermodysplasia verruciformis
p.Gly93= Multiple submitters epidermodysplasia verruciformis
p.Leu543= Multiple submitters epidermodysplasia verruciformis
p.Pro160= Multiple submitters epidermodysplasia verruciformis
p.Pro524Leu Multiple submitters epidermodysplasia verruciformis

Likely benign 228

c.1127+18dup Multiple submitters epidermodysplasia verruciformis
c.1128-12C>G Multiple submitters epidermodysplasia verruciformis
c.1251+134C>G Multiple submitters
c.1251+14C>T Multiple submitters epidermodysplasia verruciformis
c.1251+169G>A Multiple submitters
c.1251+20G>C Multiple submitters epidermodysplasia verruciformis
c.1350-17C>T Multiple submitters epidermodysplasia verruciformis
c.1534-9C>T Multiple submitters epidermodysplasia verruciformis
c.298+10G>C Multiple submitters epidermodysplasia verruciformis
c.449-11C>T Multiple submitters epidermodysplasia verruciformis
c.531+19G>A Multiple submitters epidermodysplasia verruciformis
c.532-18C>G Multiple submitters epidermodysplasia verruciformis
c.668+14C>T Multiple submitters epidermodysplasia verruciformis
c.669-5C>T Multiple submitters epidermodysplasia verruciformis
c.816+10C>T Multiple submitters epidermodysplasia verruciformis
c.987+14G>A Multiple submitters epidermodysplasia verruciformis
p.Ala480= Multiple submitters epidermodysplasia verruciformis
p.Glu468= Multiple submitters epidermodysplasia verruciformis
p.Ile478= Multiple submitters epidermodysplasia verruciformis
p.Leu296= Multiple submitters epidermodysplasia verruciformis
p.Pro193= Multiple submitters epidermodysplasia verruciformis
p.Pro576= Multiple submitters Inborn genetic diseases
p.Ser243= Multiple submitters epidermodysplasia verruciformis
p.Ser389= Multiple submitters epidermodysplasia verruciformis
p.Ser422= Multiple submitters epidermodysplasia verruciformis
p.Thr150= Multiple submitters epidermodysplasia verruciformis
p.Thr220= Multiple submitters epidermodysplasia verruciformis
p.Thr292= Multiple submitters epidermodysplasia verruciformis
p.Tyr186= Multiple submitters epidermodysplasia verruciformis
p.Val575= Multiple submitters epidermodysplasia verruciformis
c.1127+11C>T Single submitter epidermodysplasia verruciformis
c.1127+16G>C Single submitter epidermodysplasia verruciformis
c.1128-8G>T Single submitter epidermodysplasia verruciformis
c.1251+12C>T Single submitter epidermodysplasia verruciformis
c.1251+13C>G Single submitter epidermodysplasia verruciformis
c.1251+15G>A Single submitter epidermodysplasia verruciformis
c.1251+16G>A Single submitter epidermodysplasia verruciformis
c.1251+17C>T Single submitter epidermodysplasia verruciformis
c.1251+18G>A Single submitter epidermodysplasia verruciformis
c.1251+7G>A Single submitter
c.1251+8G>A Single submitter epidermodysplasia verruciformis
c.1252-10T>G Single submitter epidermodysplasia verruciformis
c.1252-11C>A Single submitter epidermodysplasia verruciformis
c.1252-14C>A Single submitter epidermodysplasia verruciformis
c.1252-5C>G Single submitter epidermodysplasia verruciformis
c.1252-8C>T Single submitter epidermodysplasia verruciformis
c.1349+10G>A Single submitter epidermodysplasia verruciformis
c.1349+11G>C Single submitter epidermodysplasia verruciformis
c.1349+13G>T Single submitter epidermodysplasia verruciformis
c.1349+18A>T Single submitter epidermodysplasia verruciformis
c.1349+19C>T Single submitter
c.1349+8C>T Single submitter epidermodysplasia verruciformis
c.1349+9C>T Single submitter epidermodysplasia verruciformis
c.1350-18A>T Single submitter epidermodysplasia verruciformis
c.1534-14G>A Single submitter epidermodysplasia verruciformis
c.1534-15T>C Single submitter epidermodysplasia verruciformis
c.1534-16T>C Single submitter epidermodysplasia verruciformis
c.1534-19C>T Single submitter epidermodysplasia verruciformis
c.1664+10A>G Single submitter
c.1664+13G>A Single submitter epidermodysplasia verruciformis
c.1664+15_1664+17del Single submitter epidermodysplasia verruciformis
c.1664+15A>G Single submitter epidermodysplasia verruciformis
c.1664+21dup Single submitter
c.1665-19C>A Single submitter epidermodysplasia verruciformis
c.1665-6C>T Single submitter epidermodysplasia verruciformis
c.1823+15C>T Single submitter epidermodysplasia verruciformis
c.1823+16G>A Single submitter epidermodysplasia verruciformis
c.1823+17G>A Single submitter epidermodysplasia verruciformis
c.1823+20C>A Single submitter epidermodysplasia verruciformis
c.1823+7A>G Single submitter epidermodysplasia verruciformis
c.1824-13C>T Single submitter epidermodysplasia verruciformis
c.1824-14C>T Single submitter epidermodysplasia verruciformis
c.1824-20G>A Single submitter epidermodysplasia verruciformis
c.1902+10C>T Single submitter epidermodysplasia verruciformis
c.1902+12C>T Single submitter epidermodysplasia verruciformis
c.1902+13G>A Single submitter epidermodysplasia verruciformis
c.1902+13G>T Single submitter epidermodysplasia verruciformis
c.1902+15G>A Single submitter epidermodysplasia verruciformis
c.1902+20G>C Single submitter
c.1902+9C>G Single submitter epidermodysplasia verruciformis
c.1903-13G>A Single submitter epidermodysplasia verruciformis
c.1903-17A>G Single submitter
c.1903-7_1903-5del Single submitter epidermodysplasia verruciformis
c.1903-8C>T Single submitter epidermodysplasia verruciformis
c.298+13C>A Single submitter epidermodysplasia verruciformis
c.298+16C>T Single submitter epidermodysplasia verruciformis
c.298+8C>A Single submitter epidermodysplasia verruciformis
c.448+10A>C Single submitter epidermodysplasia verruciformis
c.448+12G>A Single submitter epidermodysplasia verruciformis
c.448+17C>G Single submitter epidermodysplasia verruciformis
c.448+19A>G Single submitter epidermodysplasia verruciformis
c.448+7G>T Single submitter epidermodysplasia verruciformis
c.448+9_448+15del Single submitter epidermodysplasia verruciformis
c.449-15del Single submitter
c.449-18C>T Single submitter
c.449-19C>A Single submitter epidermodysplasia verruciformis
c.449-8C>T Single submitter epidermodysplasia verruciformis
c.531+20G>C Single submitter epidermodysplasia verruciformis
c.531+7G>A Single submitter epidermodysplasia verruciformis
c.532-10C>T Single submitter epidermodysplasia verruciformis
c.532-11G>A Single submitter
c.532-12C>G Single submitter epidermodysplasia verruciformis
c.532-12C>T Single submitter epidermodysplasia verruciformis
c.532-14G>A Single submitter epidermodysplasia verruciformis
c.532-15C>T Single submitter epidermodysplasia verruciformis
c.532-43C>G Single submitter
c.532-4C>A Single submitter epidermodysplasia verruciformis
c.532-6C>T Single submitter epidermodysplasia verruciformis
c.668+8C>G Single submitter epidermodysplasia verruciformis
c.668+8C>T Single submitter epidermodysplasia verruciformis
c.668+9G>A Single submitter epidermodysplasia verruciformis
c.669-129C>T Single submitter
c.669-17G>A Single submitter epidermodysplasia verruciformis
c.669-18T>C Single submitter epidermodysplasia verruciformis
c.669-4G>A Single submitter epidermodysplasia verruciformis
c.669-4G>T Single submitter epidermodysplasia verruciformis
c.816+15G>C Single submitter epidermodysplasia verruciformis
c.816+16_816+19del Single submitter epidermodysplasia verruciformis
c.817-12C>T Single submitter
c.817-18C>A Single submitter epidermodysplasia verruciformis
c.817-6G>C Single submitter epidermodysplasia verruciformis
c.987+16A>G Single submitter epidermodysplasia verruciformis
c.987+20A>T Single submitter epidermodysplasia verruciformis
c.987+7G>T Single submitter epidermodysplasia verruciformis
c.987+8G>T Single submitter epidermodysplasia verruciformis
c.988-5C>T Single submitter epidermodysplasia verruciformis
c.988-7C>G Single submitter epidermodysplasia verruciformis
p.Ala188= Single submitter epidermodysplasia verruciformis
p.Ala240= Single submitter epidermodysplasia verruciformis
p.Ala260= Single submitter epidermodysplasia verruciformis
p.Ala290= Single submitter epidermodysplasia verruciformis
p.Ala316= Single submitter epidermodysplasia verruciformis
p.Ala383= Single submitter epidermodysplasia verruciformis
p.Ala520= Single submitter epidermodysplasia verruciformis
p.Ala598= Single submitter epidermodysplasia verruciformis
p.Ala698= Single submitter epidermodysplasia verruciformis
p.Ala85= Single submitter epidermodysplasia verruciformis
p.Arg466= Single submitter epidermodysplasia verruciformis
p.Arg523= Single submitter epidermodysplasia verruciformis
p.Arg670= Single submitter epidermodysplasia verruciformis
p.Asn148= Single submitter epidermodysplasia verruciformis
p.Asn269= Single submitter epidermodysplasia verruciformis
p.Asn303= Single submitter epidermodysplasia verruciformis
p.Asn371= Single submitter epidermodysplasia verruciformis
p.Asn412= Single submitter epidermodysplasia verruciformis
p.Cys414= Single submitter epidermodysplasia verruciformis
p.Cys675= Single submitter epidermodysplasia verruciformis
p.Gln325= Single submitter epidermodysplasia verruciformis
p.Gln482= Single submitter epidermodysplasia verruciformis
p.Glu276= Single submitter epidermodysplasia verruciformis
p.Glu426= Single submitter epidermodysplasia verruciformis
p.Glu725= Single submitter epidermodysplasia verruciformis
p.Glu97= Single submitter epidermodysplasia verruciformis
p.Gly162= Single submitter epidermodysplasia verruciformis
p.Gly219= Single submitter epidermodysplasia verruciformis
p.Gly227= Single submitter epidermodysplasia verruciformis
p.Gly654= Single submitter epidermodysplasia verruciformis
p.His597= Single submitter epidermodysplasia verruciformis
p.His686Pro Single submitter Inborn genetic diseases
p.Ile201= Single submitter epidermodysplasia verruciformis
p.Ile254= Single submitter
p.Ile317= Single submitter epidermodysplasia verruciformis
p.Ile344= Single submitter epidermodysplasia verruciformis
p.Leu184= Single submitter epidermodysplasia verruciformis
p.Leu214= Single submitter epidermodysplasia verruciformis
p.Leu234= Single submitter epidermodysplasia verruciformis
p.Leu275= Single submitter epidermodysplasia verruciformis
p.Leu297= Single submitter epidermodysplasia verruciformis
p.Leu305= Single submitter epidermodysplasia verruciformis
p.Leu339= Single submitter epidermodysplasia verruciformis
p.Leu353= Single submitter epidermodysplasia verruciformis
p.Leu385= Single submitter epidermodysplasia verruciformis
p.Leu397= Single submitter epidermodysplasia verruciformis
p.Leu437= Single submitter epidermodysplasia verruciformis
p.Leu470= Single submitter epidermodysplasia verruciformis
p.Leu476= Single submitter epidermodysplasia verruciformis
p.Leu489= Single submitter epidermodysplasia verruciformis
p.Leu536= Single submitter epidermodysplasia verruciformis
p.Leu540= Single submitter epidermodysplasia verruciformis
p.Leu578= Single submitter epidermodysplasia verruciformis
p.Leu642= Single submitter epidermodysplasia verruciformis
p.Leu88= Single submitter epidermodysplasia verruciformis
p.Leu95= Single submitter epidermodysplasia verruciformis
p.Lys662= Single submitter epidermodysplasia verruciformis
p.Phe441= Single submitter epidermodysplasia verruciformis
p.Phe601= Single submitter epidermodysplasia verruciformis
p.Pro209= Single submitter epidermodysplasia verruciformis
p.Pro229= Single submitter epidermodysplasia verruciformis
p.Pro340= Single submitter epidermodysplasia verruciformis
p.Pro352= Single submitter epidermodysplasia verruciformis
p.Pro524Arg Single submitter Inborn genetic diseases ⚠
p.Pro584= Single submitter epidermodysplasia verruciformis
p.Pro659= Single submitter epidermodysplasia verruciformis
p.Pro671= Single submitter epidermodysplasia verruciformis
p.Pro681= Single submitter epidermodysplasia verruciformis
p.Pro684= Single submitter epidermodysplasia verruciformis
p.Pro691= Single submitter epidermodysplasia verruciformis
p.Pro721= Single submitter epidermodysplasia verruciformis
p.Ser196= Single submitter epidermodysplasia verruciformis
p.Ser197= Single submitter epidermodysplasia verruciformis
p.Ser298= Single submitter
p.Ser522= Single submitter epidermodysplasia verruciformis
p.Ser600= Single submitter epidermodysplasia verruciformis
p.Ser647= Single submitter epidermodysplasia verruciformis
p.Ser656Asn Single submitter epidermodysplasia verruciformis
p.Ser673= Single submitter epidermodysplasia verruciformis
p.Ser722= Single submitter epidermodysplasia verruciformis
p.Thr288= Single submitter epidermodysplasia verruciformis
p.Thr321= Single submitter epidermodysplasia verruciformis
p.Thr368= Single submitter epidermodysplasia verruciformis
p.Thr438= Single submitter epidermodysplasia verruciformis
p.Thr483= Single submitter epidermodysplasia verruciformis
p.Thr612= Single submitter epidermodysplasia verruciformis
p.Tyr199= Single submitter epidermodysplasia verruciformis
p.Tyr338= Single submitter epidermodysplasia verruciformis
p.Tyr409= Single submitter epidermodysplasia verruciformis
p.Tyr551= Single submitter epidermodysplasia verruciformis
p.Tyr663= Single submitter epidermodysplasia verruciformis
p.Tyr96= Single submitter epidermodysplasia verruciformis
p.Val198= Single submitter epidermodysplasia verruciformis
p.Val256= Single submitter epidermodysplasia verruciformis
p.Val304Ile Single submitter Inborn genetic diseases
p.Val343= Single submitter epidermodysplasia verruciformis
p.Val390= Single submitter epidermodysplasia verruciformis
p.Val423= Single submitter epidermodysplasia verruciformis
p.Val547= Single submitter epidermodysplasia verruciformis
p.Val695= Single submitter epidermodysplasia verruciformis
c.*7C>A No assertion criteria TMC8-related disorder

Uncertain significance 249

p.Ala188Val Multiple submitters epidermodysplasia verruciformis ⚠
p.Ala290Thr Multiple submitters epidermodysplasia verruciformis ⚠
p.Ala313Val Multiple submitters Inborn genetic diseases ⚠
p.Ala316Thr Multiple submitters epidermodysplasia verruciformis ⚠
p.Ala345Thr Multiple submitters epidermodysplasia verruciformis ⚠
p.Ala520Thr Multiple submitters epidermodysplasia verruciformis ⚠
p.Ala598Thr Multiple submitters epidermodysplasia verruciformis ⚠
p.Arg157Cys Multiple submitters epidermodysplasia verruciformis ⚠
p.Arg202Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg202His Multiple submitters epidermodysplasia verruciformis ⚠
p.Arg223Trp Multiple submitters epidermodysplasia verruciformis ⚠
p.Arg255Gln Multiple submitters epidermodysplasia verruciformis ⚠
p.Arg279His Multiple submitters Inborn genetic diseases ⚠
p.Arg289Trp Multiple submitters epidermodysplasia verruciformis ⚠
p.Arg301Trp Multiple submitters epidermodysplasia verruciformis ⚠
p.Arg459Gln Multiple submitters epidermodysplasia verruciformis ⚠
p.Arg466Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg589Cys Multiple submitters epidermodysplasia verruciformis ⚠
p.Arg629Gln Multiple submitters epidermodysplasia verruciformis ⚠
p.Arg629Leu Multiple submitters Inborn genetic diseases
p.Arg719His Multiple submitters Inborn genetic diseases ⚠
p.Arg83Pro Multiple submitters epidermodysplasia verruciformis ⚠
p.Asn412Ser Multiple submitters Inborn genetic diseases ⚠
p.Cys398Arg Multiple submitters epidermodysplasia verruciformis ⚠
p.Cys406Trp Multiple submitters epidermodysplasia verruciformis ⚠
p.Glu274Asp Multiple submitters epidermodysplasia verruciformis ⚠
p.Glu638Ter Multiple submitters epidermodysplasia verruciformis, susceptibility to, 2
p.Gly563Ser Multiple submitters epidermodysplasia verruciformis ⚠
p.His626Tyr Multiple submitters Inborn genetic diseases ⚠
p.Ile399Thr Multiple submitters epidermodysplasia verruciformis ⚠
p.Leu206Phe Multiple submitters epidermodysplasia verruciformis ⚠
p.Leu300Gln Multiple submitters epidermodysplasia verruciformis
p.Leu305Phe Multiple submitters epidermodysplasia verruciformis ⚠
p.Leu84Val Multiple submitters Inborn genetic diseases ⚠
p.Lys231Asn Multiple submitters epidermodysplasia verruciformis ⚠
p.Lys473Thr Multiple submitters Inborn genetic diseases ⚠
p.Met606Ile Multiple submitters Inborn genetic diseases ⚠
p.Pro143Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro154His Multiple submitters epidermodysplasia verruciformis ⚠
p.Pro209Leu Multiple submitters epidermodysplasia verruciformis ⚠
p.Pro229Leu Multiple submitters epidermodysplasia verruciformis ⚠
p.Ser249Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser596Cys Multiple submitters epidermodysplasia verruciformis ⚠
p.Thr292Met Multiple submitters Inborn genetic diseases ⚠
p.Thr321Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr368Met Multiple submitters Inborn genetic diseases ⚠
p.Thr483Met Multiple submitters Inborn genetic diseases ⚠
p.Thr612Met Multiple submitters epidermodysplasia verruciformis ⚠
p.Val370Ile Multiple submitters epidermodysplasia verruciformis ⚠
p.Val471Leu Multiple submitters epidermodysplasia verruciformis ⚠
p.Val479Met Multiple submitters epidermodysplasia verruciformis
p.Val579Met Multiple submitters Inborn genetic diseases ⚠
c.1128-3C>G Single submitter epidermodysplasia verruciformis
c.1251+6T>C Single submitter epidermodysplasia verruciformis
c.1665-8C>G Single submitter epidermodysplasia verruciformis, susceptibility to, 1
c.298+6A>G Single submitter epidermodysplasia verruciformis
c.448+3G>A Single submitter epidermodysplasia verruciformis
c.531+3G>A Single submitter epidermodysplasia verruciformis
c.531+5G>A Single submitter epidermodysplasia verruciformis
c.532-5C>G Single submitter epidermodysplasia verruciformis
c.668+5_668+6delinsAC Single submitter epidermodysplasia verruciformis
c.817-6G>A Single submitter epidermodysplasia verruciformis
c.987+9C>T Single submitter epidermodysplasia verruciformis
p.Ala178Asp Single submitter epidermodysplasia verruciformis ⚠
p.Ala178Gly Single submitter epidermodysplasia verruciformis ⚠
p.Ala240Val Single submitter epidermodysplasia verruciformis ⚠
p.Ala244Thr Single submitter Inborn genetic diseases ⚠
p.Ala260Thr Single submitter epidermodysplasia verruciformis ⚠
p.Ala440Val Single submitter ⚠
p.Ala442Thr Single submitter epidermodysplasia verruciformis ⚠
p.Ala442Val Single submitter epidermodysplasia verruciformis, susceptibility to, 1 ⚠
p.Ala480Glu Single submitter epidermodysplasia verruciformis ⚠
p.Ala480Val Single submitter Inborn genetic diseases ⚠
p.Ala546Val Single submitter epidermodysplasia verruciformis ⚠
p.Ala570Ser Single submitter epidermodysplasia verruciformis ⚠
p.Ala580Thr Single submitter Inborn genetic diseases ⚠
p.Ala598Asp Single submitter epidermodysplasia verruciformis ⚠
p.Ala665Val Single submitter epidermodysplasia verruciformis ⚠
p.Ala688Pro Single submitter Inborn genetic diseases ⚠
p.Ala698Thr Single submitter epidermodysplasia verruciformis ⚠
p.Ala711Val Single submitter epidermodysplasia verruciformis ⚠
p.Ala713fs Single submitter epidermodysplasia verruciformis
p.Ala715Ser Single submitter epidermodysplasia verruciformis ⚠
p.Ala85Asp Single submitter Inborn genetic diseases ⚠
p.Ala94Ser Single submitter Inborn genetic diseases ⚠
p.Arg165Ser Single submitter Inborn genetic diseases ⚠
p.Arg190Gln Single submitter epidermodysplasia verruciformis ⚠
p.Arg223= Single submitter epidermodysplasia verruciformis
p.Arg279Cys Single submitter Inborn genetic diseases ⚠
p.Arg279Gly Single submitter epidermodysplasia verruciformis ⚠
p.Arg279Leu Single submitter Inborn genetic diseases ⚠
p.Arg280Cys Single submitter epidermodysplasia verruciformis ⚠
p.Arg280His Single submitter epidermodysplasia verruciformis ⚠
p.Arg289Gln Single submitter Inborn genetic diseases ⚠
p.Arg295Cys Single submitter epidermodysplasia verruciformis ⚠
p.Arg295Gly Single submitter epidermodysplasia verruciformis ⚠
p.Arg301Pro Single submitter epidermodysplasia verruciformis ⚠
p.Arg455Trp Single submitter epidermodysplasia verruciformis ⚠
p.Arg459Gly Single submitter epidermodysplasia verruciformis ⚠
p.Arg466Gln Single submitter epidermodysplasia verruciformis ⚠
p.Arg523Gln Single submitter epidermodysplasia verruciformis ⚠
p.Arg523Trp Single submitter epidermodysplasia verruciformis ⚠
p.Arg526Cys Single submitter epidermodysplasia verruciformis ⚠
p.Arg589His Single submitter epidermodysplasia verruciformis ⚠
p.Arg629Trp Single submitter epidermodysplasia verruciformis ⚠
p.Arg670Leu Single submitter Inborn genetic diseases ⚠
p.Arg702Cys Single submitter epidermodysplasia verruciformis ⚠
p.Arg702His Single submitter epidermodysplasia verruciformis ⚠
p.Arg716His Single submitter epidermodysplasia verruciformis ⚠
p.Arg86Trp Single submitter Inborn genetic diseases ⚠
p.Asn168Ser Single submitter epidermodysplasia verruciformis ⚠
p.Asn181Lys Single submitter Inborn genetic diseases ⚠
p.Asn269Lys Single submitter Inborn genetic diseases ⚠
p.Asn412del Single submitter epidermodysplasia verruciformis
p.Asn421Lys Single submitter epidermodysplasia verruciformis ⚠
p.Asn567Ser Single submitter epidermodysplasia verruciformis ⚠
p.Asp326His Single submitter epidermodysplasia verruciformis ⚠
p.Asp402Glu Single submitter epidermodysplasia verruciformis, susceptibility to, 1 ⚠
p.Asp454Tyr Single submitter epidermodysplasia verruciformis ⚠
p.Asp561His Single submitter epidermodysplasia verruciformis ⚠
p.Asp645Asn Single submitter Inborn genetic diseases ⚠
p.Cys406Arg Single submitter Inborn genetic diseases ⚠
p.Cys418Trp Single submitter epidermodysplasia verruciformis ⚠
p.Cys614= Single submitter epidermodysplasia verruciformis
p.Cys680Tyr Single submitter epidermodysplasia verruciformis ⚠
p.Cys705Phe Single submitter epidermodysplasia verruciformis ⚠
p.Gln158His Single submitter Inborn genetic diseases ⚠
p.Gln169Lys Single submitter epidermodysplasia verruciformis ⚠
p.Gln287Glu Single submitter epidermodysplasia verruciformis ⚠
p.Gln337Arg Single submitter Inborn genetic diseases ⚠
p.Gln394His Single submitter Inborn genetic diseases ⚠
p.Glu258Lys Single submitter epidermodysplasia verruciformis ⚠
p.Glu270Lys Single submitter Inborn genetic diseases ⚠
p.Glu276Gly Single submitter epidermodysplasia verruciformis ⚠
p.Glu330Lys Single submitter epidermodysplasia verruciformis ⚠
p.Glu468Leu Single submitter epidermodysplasia verruciformis
p.Glu468Val Single submitter Inborn genetic diseases ⚠
p.Glu638Gly Single submitter Inborn genetic diseases
p.Glu638Lys Single submitter epidermodysplasia verruciformis ⚠
p.Gly187Asp Single submitter epidermodysplasia verruciformis ⚠
p.Gly235Ala Single submitter epidermodysplasia verruciformis ⚠
p.Gly237Ser Single submitter Inborn genetic diseases ⚠
p.Gly307Arg Single submitter epidermodysplasia verruciformis ⚠
p.Gly342Val Single submitter epidermodysplasia verruciformis ⚠
p.Gly410Ser Single submitter Inborn genetic diseases ⚠
p.Gly550Asp Single submitter epidermodysplasia verruciformis ⚠
p.Gly660fs Single submitter
p.Gly707Glu Single submitter epidermodysplasia verruciformis, susceptibility to, 1 ⚠
p.Gly710Ser Single submitter Inborn genetic diseases ⚠
p.Gly87Arg Single submitter epidermodysplasia verruciformis ⚠
p.Gly93Arg Single submitter epidermodysplasia verruciformis ⚠
p.Gly99Arg Single submitter Inborn genetic diseases
p.His597Gln Single submitter epidermodysplasia verruciformis ⚠
p.His686Tyr Single submitter Inborn genetic diseases ⚠
p.Ile201Thr Single submitter epidermodysplasia verruciformis ⚠
p.Ile267Met Single submitter epidermodysplasia verruciformis ⚠
p.Ile314Thr Single submitter epidermodysplasia verruciformis ⚠
p.Ile317Thr Single submitter Inborn genetic diseases ⚠
p.Ile317Val Single submitter epidermodysplasia verruciformis ⚠
p.Ile396Val Single submitter epidermodysplasia verruciformis ⚠
p.Ile399Val Single submitter epidermodysplasia verruciformis ⚠
p.Ile478Val Single submitter epidermodysplasia verruciformis ⚠
p.Ile556Asn Single submitter epidermodysplasia verruciformis ⚠
p.Leu206Val Single submitter epidermodysplasia verruciformis ⚠
p.Leu214_Leu215insSerProLeuAlaCysLeuLeu Single submitter epidermodysplasia verruciformis
p.Leu215Phe Single submitter Inborn genetic diseases ⚠
p.Leu242Val Single submitter epidermodysplasia verruciformis ⚠
p.Leu296Pro Single submitter Inborn genetic diseases ⚠
p.Leu297Pro Single submitter epidermodysplasia verruciformis ⚠
p.Leu308Phe Single submitter epidermodysplasia verruciformis ⚠
p.Leu385Phe Single submitter epidermodysplasia verruciformis
p.Leu447Gln Single submitter epidermodysplasia verruciformis ⚠
p.Leu470Arg Single submitter epidermodysplasia verruciformis ⚠
p.Leu539Phe Single submitter epidermodysplasia verruciformis ⚠
p.Leu604Phe Single submitter epidermodysplasia verruciformis ⚠
p.Leu628Pro Single submitter epidermodysplasia verruciformis ⚠
p.Leu90Phe Single submitter epidermodysplasia verruciformis ⚠
p.Lys245Arg Single submitter Inborn genetic diseases ⚠
p.Lys322Asn Single submitter epidermodysplasia verruciformis ⚠
p.Lys403Arg Single submitter ⚠
p.Lys403Asn Single submitter epidermodysplasia verruciformis ⚠
p.Lys403Glu Single submitter Inborn genetic diseases ⚠
p.Lys473Arg Single submitter epidermodysplasia verruciformis ⚠
p.Phe179Leu Single submitter epidermodysplasia verruciformis ⚠
p.Phe271Ile Single submitter epidermodysplasia verruciformis ⚠
p.Phe349Ser Single submitter Inborn genetic diseases ⚠
p.Phe355Leu Single submitter epidermodysplasia verruciformis, susceptibility to, 1 ⚠
p.Phe388Leu Single submitter Inborn genetic diseases ⚠
p.Phe435Cys Single submitter epidermodysplasia verruciformis ⚠
p.Phe443Tyr Single submitter epidermodysplasia verruciformis
p.Phe456Leu Single submitter Inborn genetic diseases ⚠
p.Phe469Leu Single submitter epidermodysplasia verruciformis ⚠
p.Phe534del Single submitter epidermodysplasia verruciformis
p.Phe674Leu Single submitter Inborn genetic diseases ⚠
p.Pro141Thr Single submitter epidermodysplasia verruciformis ⚠
p.Pro143Leu Single submitter epidermodysplasia verruciformis ⚠
p.Pro145Ser Single submitter epidermodysplasia verruciformis ⚠
p.Pro154Leu Single submitter ⚠
p.Pro160Leu Single submitter Inborn genetic diseases ⚠
p.Pro161Ala Single submitter Inborn genetic diseases ⚠
p.Pro365Leu Single submitter epidermodysplasia verruciformis ⚠
p.Pro448Leu Single submitter Inborn genetic diseases
p.Pro493Leu Single submitter Inborn genetic diseases ⚠
p.Pro576Leu Single submitter epidermodysplasia verruciformis ⚠
p.Pro584Leu Single submitter Inborn genetic diseases ⚠
p.Pro651Leu Single submitter epidermodysplasia verruciformis ⚠
p.Pro659Ala Single submitter Inborn genetic diseases ⚠
p.Pro659Leu Single submitter epidermodysplasia verruciformis ⚠
p.Pro689Leu Single submitter epidermodysplasia verruciformis ⚠
p.Pro693Leu Single submitter epidermodysplasia verruciformis ⚠
p.Pro721Ala Single submitter epidermodysplasia verruciformis, susceptibility to, 1 ⚠
p.Ser518del Single submitter epidermodysplasia verruciformis
p.Ser521Phe Single submitter Inborn genetic diseases ⚠
p.Ser528Pro Single submitter epidermodysplasia verruciformis ⚠
p.Ser530Phe Single submitter epidermodysplasia verruciformis ⚠
p.Ser554Arg Single submitter Inborn genetic diseases ⚠
p.Ser558Phe Single submitter epidermodysplasia verruciformis ⚠
p.Ser608Asn Single submitter epidermodysplasia verruciformis ⚠
p.Ser658Phe Single submitter epidermodysplasia verruciformis ⚠
p.Thr146Asn Single submitter epidermodysplasia verruciformis ⚠
p.Thr150Ile Single submitter epidermodysplasia verruciformis ⚠
p.Thr292Lys Single submitter epidermodysplasia verruciformis ⚠
p.Thr373Ala Single submitter epidermodysplasia verruciformis ⚠
p.Thr438Ala Single submitter Inborn genetic diseases ⚠
p.Thr438Ile Single submitter epidermodysplasia verruciformis ⚠
p.Thr618Asn Single submitter epidermodysplasia verruciformis ⚠
p.Trp250Arg Single submitter epidermodysplasia verruciformis ⚠
p.Trp634fs Single submitter epidermodysplasia verruciformis
p.Trp91Arg Single submitter epidermodysplasia verruciformis ⚠
p.Tyr183Cys Single submitter epidermodysplasia verruciformis ⚠
p.Tyr186Cys Single submitter epidermodysplasia verruciformis ⚠
p.Tyr323Cys Single submitter epidermodysplasia verruciformis
p.Tyr409His Single submitter epidermodysplasia verruciformis ⚠
p.Tyr409Ser Single submitter epidermodysplasia verruciformis ⚠
p.Val163Ile Single submitter epidermodysplasia verruciformis ⚠
p.Val198Leu Single submitter epidermodysplasia verruciformis ⚠
p.Val198Met Single submitter epidermodysplasia verruciformis ⚠
p.Val246Leu Single submitter epidermodysplasia verruciformis ⚠
p.Val311Phe Single submitter epidermodysplasia verruciformis ⚠
p.Val378Met Single submitter Inborn genetic diseases ⚠
p.Val390Leu Single submitter epidermodysplasia verruciformis ⚠
p.Val413Ile Single submitter epidermodysplasia verruciformis ⚠
p.Val423Leu Single submitter Inborn genetic diseases ⚠
p.Val423Met Single submitter epidermodysplasia verruciformis ⚠
p.Val439Ala Single submitter Inborn genetic diseases ⚠
p.Val439Met Single submitter epidermodysplasia verruciformis ⚠
p.Val484Phe Single submitter epidermodysplasia verruciformis
p.Val615Gly Single submitter Inborn genetic diseases ⚠
p.Val695Ile Single submitter epidermodysplasia verruciformis ⚠