TMC6 — 804 ClinVar variants

All ClinVar germline TMC6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 311 flagged for review →

26 Pathogenic · 1 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 14 Conflicting · 46 Benign · 22 Benign/Likely benign · 343 Likely benign · 342 Uncertain significance

Full TMC6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 311

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 11

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

TMC6 p.Ala431Val Conflicting Single submitter
Inborn genetic diseases
TMC6 p.Ala445Thr Conflicting Single submitter
epidermodysplasia verruciformis
TMC6 p.Ala445Val Conflicting Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg57Gln Conflicting Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg699His Conflicting Single submitter
epidermodysplasia verruciformis
TMC6 p.Pro795Leu Conflicting Single submitter
epidermodysplasia verruciformis, susceptibility to, 1
TMC6 p.Thr329Ile Conflicting Single submitter
epidermodysplasia verruciformis
TMC6 p.Val106Ala Conflicting Single submitter
epidermodysplasia verruciformis
TMC6 p.Val433Ala Conflicting Single submitter
Inborn genetic diseases
TMC6 p.Val558Ile Conflicting Single submitter
epidermodysplasia verruciformis
TMC6 p.Val651Ile Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 260

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 260

TMC6 p.Ala124Pro Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Ala212Val Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Ala233Thr Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Ala380Thr Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Ala432Val Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Ala495Thr Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Ala660Thr Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Ala794Pro Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Arg109Trp Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Arg114Trp Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Arg122His Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Arg122Pro Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Arg236Cys Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Arg371Gln Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Arg371Trp Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Arg429Trp Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Arg583Trp Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Arg591Trp Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Arg699Gly Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Arg69Trp Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Arg744Trp Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Arg80Cys Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Arg88Cys Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Arg88His Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Arg92Cys Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Cys540Arg Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Gln18Lys Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Gln39Arg Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Gln416Arg Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Gln43His Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Glu414Gly Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Glu576Lys Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Glu692Lys Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Glu755Lys Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Glu760Asp Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Glu776Lys Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Gly19Ser Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Gly21Val Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Gly298Asp Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Gly367Glu Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Gly599Trp Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Gly694Ser Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.His647Tyr Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Ile618Phe Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Phe249Leu Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Phe366Cys Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Pro126Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Pro12Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Pro15Leu Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Pro318Leu Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Pro498Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Pro585Leu Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Ser147Asn Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Ser171Asn Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Ser247Pro Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Ser456Leu Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Ser75Arg Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Thr392Met Uncertain significance Multiple submitters
epidermodysplasia verruciformis, susceptibility to, 1
TMC6 p.Thr564Met Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Thr654Met Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Thr722Ser Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Thr76Met Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Tyr101Phe Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Tyr25Cys Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Tyr25His Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Tyr307His Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Val106Met Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Val359Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Val383Ile Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Val433Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Val454Ile Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Val593Ile Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Val672Ile Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Val749Ala Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Ala124Thr Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Ala219Val Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Ala223Thr Uncertain significance Single submitter
Inborn genetic diseases
TMC6 p.Ala223Val Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Ala257Val Uncertain significance Single submitter
Inborn genetic diseases
TMC6 p.Ala276Thr Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Ala297Thr Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Ala297Val Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Ala432Thr Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Ala445Ser Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Ala449Val Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Ala486Thr Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Ala495Gly Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Ala519Thr Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Ala615Thr Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Ala660Val Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Ala664Thr Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Ala665Thr Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Ala671Thr Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Ala693Asp Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Ala6Gly Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Ala703Val Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Ala77Thr Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Ala793Val Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Ala794Thr Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Ala797Val Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Ala805Val Uncertain significance Single submitter
TMC6 p.Arg104His Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg109Gln Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg114Gln Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg122Cys Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg129Cys Uncertain significance Single submitter
Inborn genetic diseases
TMC6 p.Arg129Gly Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg129His Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg161Gln Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg231His Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg236His Uncertain significance Single submitter
Inborn genetic diseases
TMC6 p.Arg331Gly Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg395Gln Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg491His Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg531Cys Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg551Trp Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg57Trp Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg581Thr Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg591Gln Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg640His Uncertain significance Single submitter
Inborn genetic diseases
TMC6 p.Arg641Gln Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg685Gln Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg695Ser Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg69Gly Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg716Leu Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg716Trp Uncertain significance Single submitter
Inborn genetic diseases
TMC6 p.Arg744Gln Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg747His Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg783Ser Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg785Ser Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg80Gly Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg80His Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg92His Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg94Gln Uncertain significance Single submitter
TMC6 p.Asn316Ile Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Asn338Ser Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Asn721Thr Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Asp10Asn Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Asp132Asn Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Asp162Gly Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Asp26Gly Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Asp324Asn Uncertain significance Single submitter
Inborn genetic diseases
TMC6 p.Asp32Asn Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Asp543Gly Uncertain significance Single submitter
Inborn genetic diseases
TMC6 p.Cys299Phe Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Cys328Gly Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Cys385Tyr Uncertain significance Single submitter
Inborn genetic diseases
TMC6 p.Gln468Arg Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Glu13Lys Uncertain significance Single submitter
Inborn genetic diseases
TMC6 p.Glu141Lys Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 40

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

TMC6 p.Arg161Trp Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Arg640Cys Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Arg685Trp Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Arg747Cys Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Arg785Thr Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Asn259Ser Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Glu414Lys Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Leu153Phe Benign/Likely benign Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Pro585Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TMC6 p.Thr314Met Uncertain significance Multiple submitters
epidermodysplasia verruciformis
TMC6 p.Ala445Pro Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg166Cys Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg176Cys Conflicting Single submitter
Inborn genetic diseases
TMC6 p.Arg231Cys Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg231Leu Uncertain significance Single submitter
Inborn genetic diseases
TMC6 p.Arg418Trp Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg551Gln Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg641Trp Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Arg699Cys Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Cys328Tyr Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Gln154Glu Uncertain significance Single submitter
Inborn genetic diseases
TMC6 p.Glu410Asp Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Gly308Ser Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Gly485Arg Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.His715Pro Uncertain significance Single submitter
Inborn genetic diseases
TMC6 p.Leu227Pro Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Leu428Pro Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Leu565His Uncertain significance Single submitter
Inborn genetic diseases
TMC6 p.Lys235Thr Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Lys770Asn Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Phe269Val Uncertain significance Single submitter
Inborn genetic diseases
TMC6 p.Phe366Leu Uncertain significance Single submitter
Inborn genetic diseases
TMC6 p.Phe658Val Uncertain significance Single submitter
epidermodysplasia verruciformis, susceptibility to, 1
TMC6 p.Pro340Ser Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Pro487Ser Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Ser610Leu Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Thr346Ile Uncertain significance Single submitter
Inborn genetic diseases
TMC6 p.Trp387Arg Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Tyr507Cys Uncertain significance Single submitter
epidermodysplasia verruciformis
TMC6 p.Tyr626Cys Uncertain significance Single submitter
epidermodysplasia verruciformis

All TMC6 variants

Pathogenic 26

p.Arg94Ter Multiple submitters epidermodysplasia verruciformis
c.748_1082+56del Single submitter epidermodysplasia verruciformis, susceptibility to, 1
c.892-2A>G Single submitter epidermodysplasia verruciformis
c.892-2A>T Single submitter epidermodysplasia verruciformis
p.Asp388fs Single submitter epidermodysplasia verruciformis
p.Gln393Ter Single submitter epidermodysplasia verruciformis
p.Gln39Ter Single submitter epidermodysplasia verruciformis
p.Gln54Ter Single submitter epidermodysplasia verruciformis
p.Gln637Ter Single submitter epidermodysplasia verruciformis
p.Gln64Ter Single submitter epidermodysplasia verruciformis
p.Gln756Ter Single submitter epidermodysplasia verruciformis
p.Ile237fs Single submitter epidermodysplasia verruciformis
p.Leu475fs Single submitter epidermodysplasia verruciformis
p.Met648fs Single submitter epidermodysplasia verruciformis
p.Phe351fs Single submitter epidermodysplasia verruciformis
p.Phe566fs Single submitter epidermodysplasia verruciformis
p.Pro286fs Single submitter epidermodysplasia verruciformis
p.Ser678Ter Single submitter epidermodysplasia verruciformis
p.Thr444fs Single submitter epidermodysplasia verruciformis
p.Trp710Ter Single submitter epidermodysplasia verruciformis
p.Tyr102Ter Single submitter epidermodysplasia verruciformis
p.Tyr248Ter Single submitter epidermodysplasia verruciformis
p.Tyr737Ter Single submitter epidermodysplasia verruciformis
p.Val383fs Single submitter epidermodysplasia verruciformis
p.Val452fs Single submitter epidermodysplasia verruciformis
p.Val666fs Single submitter epidermodysplasia verruciformis

Pathogenic/Likely pathogenic 1

p.Leu323fs Multiple submitters epidermodysplasia verruciformis

Likely pathogenic 10

c.1383+1G>A Single submitter epidermodysplasia verruciformis
c.1715+1G>A Single submitter epidermodysplasia verruciformis
c.1811+1G>A Single submitter epidermodysplasia verruciformis
c.2022-1G>C Single submitter epidermodysplasia verruciformis
c.2023del Single submitter
c.363_430+80del Single submitter epidermodysplasia verruciformis
c.57-1G>A Single submitter
c.634-3_654del Single submitter epidermodysplasia verruciformis, susceptibility to, 1
p.Gln600Ter Single submitter TMC6-related disorder
p.Trp415Ter Single submitter TMC6-related disorder

Conflicting classifications of pathogenicity 14

c.56+6C>T Single submitter epidermodysplasia verruciformis
p.Ala413Pro Single submitter epidermodysplasia verruciformis
p.Ala431Val Single submitter Inborn genetic diseases ⚠
p.Ala445Thr Single submitter epidermodysplasia verruciformis ⚠
p.Ala445Val Single submitter epidermodysplasia verruciformis ⚠
p.Arg176Cys Single submitter Inborn genetic diseases ⚠
p.Arg57Gln Single submitter epidermodysplasia verruciformis ⚠
p.Arg699His Single submitter epidermodysplasia verruciformis ⚠
p.Pro795Leu Single submitter epidermodysplasia verruciformis, susceptibility to, 1 ⚠
p.Thr329Ile Single submitter epidermodysplasia verruciformis ⚠
p.Val106Ala Single submitter epidermodysplasia verruciformis ⚠
p.Val433Ala Single submitter Inborn genetic diseases ⚠
p.Val558Ile Single submitter epidermodysplasia verruciformis ⚠
p.Val651Ile Single submitter Inborn genetic diseases ⚠

Benign 46

c.1082+140A>G Multiple submitters
c.1082+5T>C Multiple submitters epidermodysplasia verruciformis
c.1083-265C>T Multiple submitters
c.1083-4C>G Multiple submitters epidermodysplasia verruciformis
c.1083-57C>G Multiple submitters
c.1227+131C>T Multiple submitters
c.1228-179C>T Multiple submitters
c.1228-8G>A Multiple submitters epidermodysplasia verruciformis
c.1383+120C>T Multiple submitters
c.1383+136T>C Multiple submitters
c.1383+67C>G Multiple submitters
c.1715+238G>A Multiple submitters
c.1716-6del Multiple submitters epidermodysplasia verruciformis
c.1811+25A>G Multiple submitters
c.1811+77C>T Multiple submitters
c.1812-54T>A Multiple submitters
c.1887+111G>A Multiple submitters
c.1887+77C>A Multiple submitters
c.1887+89G>C Multiple submitters
c.1888-85C>T Multiple submitters
c.2355-4G>A Multiple submitters epidermodysplasia verruciformis
c.2355-66C>T Multiple submitters
c.271+138T>C Multiple submitters
c.272-113A>G Multiple submitters
c.430+26A>T Multiple submitters
c.431-214C>T Multiple submitters
c.*156G>A Multiple submitters
p.Ala494= Multiple submitters epidermodysplasia verruciformis
p.Arg491Cys Multiple submitters epidermodysplasia verruciformis
p.Thr650= Multiple submitters epidermodysplasia verruciformis
p.Trp125Arg Multiple submitters epidermodysplasia verruciformis
p.Val287Ile Multiple submitters epidermodysplasia verruciformis
c.1082+253G>T Single submitter
c.1227+197C>T Single submitter
c.1227+232G>A Single submitter
c.1227+233C>G Single submitter
c.1227+263G>A Single submitter
c.1228-111_1228-110del Single submitter
c.1383+16del Single submitter epidermodysplasia verruciformis
c.1715+56_1715+68del Single submitter
c.1715+9del Single submitter epidermodysplasia verruciformis
c.1887+198T>C Single submitter
c.1888-13C>G Single submitter epidermodysplasia verruciformis
c.57-18C>T Single submitter epidermodysplasia verruciformis
c.57-18dup Single submitter epidermodysplasia verruciformis
p.Pro282= Single submitter epidermodysplasia verruciformis

Benign/Likely benign 22

c.1536-4G>A Multiple submitters epidermodysplasia verruciformis
c.1536-5C>T Multiple submitters epidermodysplasia verruciformis
c.181+6C>T Multiple submitters epidermodysplasia verruciformis
c.2021+11C>T Multiple submitters epidermodysplasia verruciformis
c.2022-14G>A Multiple submitters epidermodysplasia verruciformis
c.2354+10C>T Multiple submitters epidermodysplasia verruciformis
c.430+17T>C Multiple submitters epidermodysplasia verruciformis
c.891+17A>G Multiple submitters epidermodysplasia verruciformis
p.Ala280Thr Multiple submitters epidermodysplasia verruciformis
p.Arg531His Multiple submitters epidermodysplasia verruciformis
p.Gly426Arg Multiple submitters epidermodysplasia verruciformis
p.Leu153Phe Multiple submitters epidermodysplasia verruciformis ⚠
p.Leu323= Multiple submitters epidermodysplasia verruciformis
p.Leu52= Multiple submitters epidermodysplasia verruciformis
p.Lys235Arg Multiple submitters epidermodysplasia verruciformis
p.Pro286= Multiple submitters epidermodysplasia verruciformis
p.Pro502Leu Multiple submitters epidermodysplasia verruciformis
p.Pro614= Multiple submitters epidermodysplasia verruciformis
p.Ser222= Multiple submitters epidermodysplasia verruciformis
p.Thr382= Multiple submitters epidermodysplasia verruciformis
p.Thr444= Multiple submitters epidermodysplasia verruciformis
p.Tyr131= Multiple submitters epidermodysplasia verruciformis

Likely benign 343

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

c.1227+143G>A Multiple submitters
c.1228-15C>T Multiple submitters epidermodysplasia verruciformis
c.1228-9C>T Multiple submitters epidermodysplasia verruciformis
c.1383+11G>A Multiple submitters epidermodysplasia verruciformis
c.1383+16G>A Multiple submitters epidermodysplasia verruciformis
c.1384-11C>T Multiple submitters epidermodysplasia verruciformis
c.1536-11G>A Multiple submitters epidermodysplasia verruciformis
c.1536-17C>T Multiple submitters epidermodysplasia verruciformis
c.1715+17C>T Multiple submitters epidermodysplasia verruciformis
c.2198+9C>T Multiple submitters epidermodysplasia verruciformis
c.2199-4G>A Multiple submitters epidermodysplasia verruciformis
c.2354+13G>A Multiple submitters epidermodysplasia verruciformis
c.2354+18G>C Multiple submitters epidermodysplasia verruciformis
c.2354+20T>C Multiple submitters epidermodysplasia verruciformis
c.2355-8T>C Multiple submitters epidermodysplasia verruciformis
c.2355-9T>C Multiple submitters epidermodysplasia verruciformis
c.271+16A>G Multiple submitters epidermodysplasia verruciformis
c.272-139T>C Multiple submitters
c.272-16C>G Multiple submitters epidermodysplasia verruciformis
c.536+14del Multiple submitters epidermodysplasia verruciformis, susceptibility to, 1
c.634-4G>A Multiple submitters epidermodysplasia verruciformis
c.634-5C>T Multiple submitters epidermodysplasia verruciformis
c.891+72G>A Multiple submitters
c.892-8T>C Multiple submitters epidermodysplasia verruciformis
c.*244G>A Multiple submitters
p.Ala380Val Multiple submitters epidermodysplasia verruciformis
p.Ala431= Multiple submitters epidermodysplasia verruciformis
p.Ala449= Multiple submitters epidermodysplasia verruciformis
p.Ala660= Multiple submitters epidermodysplasia verruciformis
p.Ala664= Multiple submitters epidermodysplasia verruciformis
p.Arg111= Multiple submitters epidermodysplasia verruciformis
p.Arg582= Multiple submitters epidermodysplasia verruciformis
p.Arg583Gln Multiple submitters epidermodysplasia verruciformis
p.Cys448= Multiple submitters Inborn genetic diseases
p.Gly16= Multiple submitters epidermodysplasia verruciformis
p.Gly283Ser Multiple submitters epidermodysplasia verruciformis
p.Phe566= Multiple submitters epidermodysplasia verruciformis
p.Phe724= Multiple submitters epidermodysplasia verruciformis
p.Pro229= Multiple submitters epidermodysplasia verruciformis
p.Pro502= Multiple submitters epidermodysplasia verruciformis
p.Ser123= Multiple submitters epidermodysplasia verruciformis
p.Ser28= Multiple submitters epidermodysplasia verruciformis
p.Ser610= Multiple submitters epidermodysplasia verruciformis
p.Thr105= Multiple submitters epidermodysplasia verruciformis
p.Thr138= Multiple submitters epidermodysplasia verruciformis
p.Thr357= Multiple submitters epidermodysplasia verruciformis
p.Thr76= Multiple submitters epidermodysplasia verruciformis
p.Val503= Multiple submitters epidermodysplasia verruciformis
c.1082+11C>T Single submitter epidermodysplasia verruciformis
c.1082+228A>G Single submitter
c.1082+8C>T Single submitter epidermodysplasia verruciformis
c.1227+242G>A Single submitter
c.1383+10dup Single submitter epidermodysplasia verruciformis
c.1383+10T>G Single submitter epidermodysplasia verruciformis
c.1383+11G>C Single submitter epidermodysplasia verruciformis
c.1383+11G>T Single submitter epidermodysplasia verruciformis
c.1383+12G>C Single submitter epidermodysplasia verruciformis
c.1383+13G>A Single submitter epidermodysplasia verruciformis
c.1383+16G>T Single submitter epidermodysplasia verruciformis
c.1383+19C>A Single submitter epidermodysplasia verruciformis
c.1384-14C>T Single submitter epidermodysplasia verruciformis
c.1384-5T>C Single submitter epidermodysplasia verruciformis
c.1384-9C>T Single submitter epidermodysplasia verruciformis
c.1535+10C>T Single submitter epidermodysplasia verruciformis
c.1535+11G>A Single submitter epidermodysplasia verruciformis
c.1535+11G>T Single submitter epidermodysplasia verruciformis
c.1535+15A>C Single submitter epidermodysplasia verruciformis
c.1535+9C>T Single submitter epidermodysplasia verruciformis
c.1536-10C>T Single submitter epidermodysplasia verruciformis
c.1536-12C>T Single submitter epidermodysplasia verruciformis
c.1536-13C>T Single submitter epidermodysplasia verruciformis
c.1715+18G>A Single submitter epidermodysplasia verruciformis
c.1715+8G>A Single submitter epidermodysplasia verruciformis
c.1715+8G>T Single submitter epidermodysplasia verruciformis
c.1715+9G>T Single submitter epidermodysplasia verruciformis
c.1716-15G>A Single submitter epidermodysplasia verruciformis
c.1716-15G>C Single submitter epidermodysplasia verruciformis
c.1716-17G>A Single submitter epidermodysplasia verruciformis
c.1716-17G>C Single submitter epidermodysplasia verruciformis
c.1716-18C>T Single submitter epidermodysplasia verruciformis
c.1716-4G>A Single submitter epidermodysplasia verruciformis
c.1716-4G>T Single submitter epidermodysplasia verruciformis
c.1716-6A>G Single submitter epidermodysplasia verruciformis
c.1716-8G>C Single submitter epidermodysplasia verruciformis
c.1716-9C>T Single submitter epidermodysplasia verruciformis
c.181+11G>A Single submitter epidermodysplasia verruciformis
c.181+8C>A Single submitter epidermodysplasia verruciformis
c.1811+13T>G Single submitter epidermodysplasia verruciformis
c.1811+15C>T Single submitter epidermodysplasia verruciformis
c.1811+7G>T Single submitter epidermodysplasia verruciformis
c.1811+9C>A Single submitter
c.1812-10C>G Single submitter epidermodysplasia verruciformis
c.1812-12C>A Single submitter epidermodysplasia verruciformis
c.1812-8C>T Single submitter epidermodysplasia verruciformis
c.182-15T>C Single submitter epidermodysplasia verruciformis
c.182-6T>C Single submitter epidermodysplasia verruciformis
c.1887+10_1887+34del Single submitter epidermodysplasia verruciformis
c.1887+16C>T Single submitter epidermodysplasia verruciformis
c.1887+17C>T Single submitter epidermodysplasia verruciformis
c.1888-11T>C Single submitter epidermodysplasia verruciformis
c.1888-17G>A Single submitter epidermodysplasia verruciformis
c.1888-18C>T Single submitter epidermodysplasia verruciformis
c.1888-19G>A Single submitter epidermodysplasia verruciformis
c.2021+10G>A Single submitter epidermodysplasia verruciformis
c.2021+12G>A Single submitter epidermodysplasia verruciformis
c.2021+14G>A Single submitter epidermodysplasia verruciformis
c.2021+20G>A Single submitter epidermodysplasia verruciformis
c.2022-15C>T Single submitter epidermodysplasia verruciformis
c.2022-16T>A Single submitter epidermodysplasia verruciformis
c.2022-4C>A Single submitter epidermodysplasia verruciformis
c.2022-5C>T Single submitter epidermodysplasia verruciformis
c.2198+16G>C Single submitter epidermodysplasia verruciformis
c.2198+16G>T Single submitter epidermodysplasia verruciformis
c.2199-11C>A Single submitter epidermodysplasia verruciformis
c.2199-11C>G Single submitter epidermodysplasia verruciformis
c.2199-14C>A Single submitter epidermodysplasia verruciformis
c.2199-14C>T Single submitter epidermodysplasia verruciformis
c.2199-19G>A Single submitter epidermodysplasia verruciformis
c.2199-20C>G Single submitter epidermodysplasia verruciformis
c.2199-20C>T Single submitter epidermodysplasia verruciformis
c.2199-31_2199-20del Single submitter epidermodysplasia verruciformis
c.2199-5C>T Single submitter epidermodysplasia verruciformis
c.2277+10C>T Single submitter epidermodysplasia verruciformis
c.2277+11C>T Single submitter epidermodysplasia verruciformis
c.2277+9C>T Single submitter epidermodysplasia verruciformis
c.2278-12T>C Single submitter epidermodysplasia verruciformis
c.2278-6T>G Single submitter epidermodysplasia verruciformis
c.2278-8C>T Single submitter epidermodysplasia verruciformis
c.2354+11G>A Single submitter epidermodysplasia verruciformis
c.2354+11G>C Single submitter epidermodysplasia verruciformis
c.2355-20G>A Single submitter epidermodysplasia verruciformis
c.2355-7C>T Single submitter epidermodysplasia verruciformis
c.271+13C>G Single submitter epidermodysplasia verruciformis
c.271+16_271+21del Single submitter epidermodysplasia verruciformis
c.271+18C>T Single submitter epidermodysplasia verruciformis
c.271+19C>T Single submitter epidermodysplasia verruciformis
c.271+7G>A Single submitter epidermodysplasia verruciformis
c.272-19_272-15dup Single submitter epidermodysplasia verruciformis
c.272-29GGCCC[3] Single submitter epidermodysplasia verruciformis
c.272-3T>C Single submitter
c.272-4A>C Single submitter epidermodysplasia verruciformis
c.272-4A>G Single submitter epidermodysplasia verruciformis
c.272-6C>T Single submitter epidermodysplasia verruciformis
c.272-7T>C Single submitter
c.430+13G>A Single submitter epidermodysplasia verruciformis
c.430+15A>C Single submitter epidermodysplasia verruciformis
c.430+15A>G Single submitter epidermodysplasia verruciformis
c.430+16C>T Single submitter epidermodysplasia verruciformis
c.431-10C>T Single submitter epidermodysplasia verruciformis
c.431-11C>T Single submitter epidermodysplasia verruciformis
c.431-15C>T Single submitter epidermodysplasia verruciformis
c.431-20C>T Single submitter epidermodysplasia verruciformis
c.431-4G>A Single submitter epidermodysplasia verruciformis
c.431-4G>T Single submitter epidermodysplasia verruciformis
c.431-5C>T Single submitter epidermodysplasia verruciformis
c.431-7C>T Single submitter epidermodysplasia verruciformis
c.536+11C>G Single submitter epidermodysplasia verruciformis
c.536+12C>G Single submitter epidermodysplasia verruciformis
c.536+12C>T Single submitter epidermodysplasia verruciformis
c.536+13G>A Single submitter epidermodysplasia verruciformis
c.536+16C>A Single submitter epidermodysplasia verruciformis
c.536+9C>A Single submitter epidermodysplasia verruciformis
c.56+14G>A Single submitter epidermodysplasia verruciformis
c.56+20_56+26del Single submitter epidermodysplasia verruciformis
c.56+7G>A Single submitter epidermodysplasia verruciformis
c.57-10C>T Single submitter epidermodysplasia verruciformis
c.57-15C>A Single submitter epidermodysplasia verruciformis
c.57-15C>G Single submitter epidermodysplasia verruciformis
c.57-17dup Single submitter epidermodysplasia verruciformis
c.57-17G>A Single submitter epidermodysplasia verruciformis
c.57-18C>G Single submitter epidermodysplasia verruciformis
c.57-19C>G Single submitter epidermodysplasia verruciformis
c.57-20C>T Single submitter epidermodysplasia verruciformis
c.57-4G>A Single submitter epidermodysplasia verruciformis
c.57-5_57-3del Single submitter epidermodysplasia verruciformis
c.57-6C>A Single submitter epidermodysplasia verruciformis
c.57-6C>T Single submitter epidermodysplasia verruciformis
c.891+12C>T Single submitter epidermodysplasia verruciformis
c.891+19T>A Single submitter epidermodysplasia verruciformis
c.891+20G>A Single submitter epidermodysplasia verruciformis
c.892-13C>T Single submitter epidermodysplasia verruciformis
p.Ala159= Single submitter epidermodysplasia verruciformis
p.Ala159Thr Single submitter epidermodysplasia verruciformis
p.Ala2= Single submitter epidermodysplasia verruciformis
p.Ala219= Single submitter epidermodysplasia verruciformis
p.Ala260= Single submitter epidermodysplasia verruciformis
p.Ala396= Single submitter epidermodysplasia verruciformis
p.Ala413= Single submitter epidermodysplasia verruciformis
p.Ala445= Single submitter epidermodysplasia verruciformis
p.Ala451= Single submitter epidermodysplasia verruciformis
p.Ala495= Single submitter epidermodysplasia verruciformis
p.Ala509= Single submitter
p.Ala6= Single submitter epidermodysplasia verruciformis
p.Ala615= Single submitter epidermodysplasia verruciformis
p.Ala634= Single submitter epidermodysplasia verruciformis
p.Ala638= Single submitter epidermodysplasia verruciformis
p.Ala671= Single submitter epidermodysplasia verruciformis
p.Ala693= Single submitter epidermodysplasia verruciformis
p.Ala703= Single submitter epidermodysplasia verruciformis
p.Ala734= Single submitter epidermodysplasia verruciformis
p.Ala793= Single submitter epidermodysplasia verruciformis
p.Arg104= Single submitter epidermodysplasia verruciformis
p.Arg104Cys Single submitter epidermodysplasia verruciformis
p.Arg166= Single submitter epidermodysplasia verruciformis
p.Arg418= Single submitter
p.Arg532= Single submitter epidermodysplasia verruciformis
p.Arg699= Single submitter epidermodysplasia verruciformis
p.Arg707= Single submitter epidermodysplasia verruciformis
p.Arg94= Single submitter epidermodysplasia verruciformis
p.Asn312= Single submitter epidermodysplasia verruciformis
p.Asn769= Single submitter epidermodysplasia verruciformis
p.Cys525= Single submitter epidermodysplasia verruciformis
p.Cys681= Single submitter epidermodysplasia verruciformis
p.Gln160= Single submitter epidermodysplasia verruciformis
p.Gln18= Single submitter epidermodysplasia verruciformis
p.Gln47= Single submitter epidermodysplasia verruciformis
p.Glu292= Single submitter epidermodysplasia verruciformis
p.Glu71= Single submitter epidermodysplasia verruciformis
p.Glu760= Single submitter epidermodysplasia verruciformis
p.Gly298= Single submitter epidermodysplasia verruciformis
p.Gly348= Single submitter epidermodysplasia verruciformis
p.Gly426= Single submitter epidermodysplasia verruciformis
p.Gly443= Single submitter epidermodysplasia verruciformis
p.Gly522= Single submitter epidermodysplasia verruciformis
p.Gly534= Single submitter epidermodysplasia verruciformis
p.Gly663= Single submitter epidermodysplasia verruciformis
p.Gly705= Single submitter
p.Gly787= Single submitter epidermodysplasia verruciformis
p.Gly787Arg Single submitter epidermodysplasia verruciformis
p.His31= Single submitter epidermodysplasia verruciformis
p.His364= Single submitter epidermodysplasia verruciformis
p.His379= Single submitter epidermodysplasia verruciformis
p.His419= Single submitter epidermodysplasia verruciformis
p.His453= Single submitter epidermodysplasia verruciformis
p.His453Tyr Single submitter Inborn genetic diseases
p.His499= Single submitter epidermodysplasia verruciformis
p.Ile237= Single submitter epidermodysplasia verruciformis
p.Ile460= Single submitter
p.Ile510= Single submitter epidermodysplasia verruciformis
p.Ile81= Single submitter epidermodysplasia verruciformis
p.Ile98= Single submitter epidermodysplasia verruciformis
p.Leu117= Single submitter epidermodysplasia verruciformis
p.Leu130= Single submitter epidermodysplasia verruciformis
p.Leu140= Single submitter epidermodysplasia verruciformis
p.Leu148= Single submitter epidermodysplasia verruciformis
p.Leu178= Single submitter epidermodysplasia verruciformis
p.Leu216= Single submitter epidermodysplasia verruciformis
p.Leu220= Single submitter epidermodysplasia verruciformis
p.Leu224= Single submitter epidermodysplasia verruciformis
p.Leu234= Single submitter epidermodysplasia verruciformis
p.Leu252= Single submitter epidermodysplasia verruciformis
p.Leu261= Single submitter epidermodysplasia verruciformis
p.Leu262= Single submitter epidermodysplasia verruciformis
p.Leu263= Single submitter epidermodysplasia verruciformis
p.Leu264= Single submitter epidermodysplasia verruciformis
p.Leu266= Single submitter epidermodysplasia verruciformis
p.Leu341= Single submitter epidermodysplasia verruciformis
p.Leu358= Single submitter epidermodysplasia verruciformis
p.Leu411= Single submitter epidermodysplasia verruciformis
p.Leu436= Single submitter epidermodysplasia verruciformis
p.Leu442= Single submitter epidermodysplasia verruciformis
p.Leu446= Single submitter epidermodysplasia verruciformis
p.Leu481= Single submitter epidermodysplasia verruciformis
p.Leu493= Single submitter epidermodysplasia verruciformis
p.Leu50= Single submitter epidermodysplasia verruciformis
p.Leu504= Single submitter epidermodysplasia verruciformis
p.Leu536= Single submitter epidermodysplasia verruciformis
p.Leu549= Single submitter epidermodysplasia verruciformis
p.Leu559Phe Single submitter Inborn genetic diseases
p.Leu602= Single submitter epidermodysplasia verruciformis
p.Leu605= Single submitter epidermodysplasia verruciformis
p.Leu612= Single submitter epidermodysplasia verruciformis
p.Leu621= Single submitter epidermodysplasia verruciformis
p.Leu623= Single submitter epidermodysplasia verruciformis
p.Leu653= Single submitter epidermodysplasia verruciformis
p.Leu67= Single submitter epidermodysplasia verruciformis
p.Leu752= Single submitter epidermodysplasia verruciformis
p.Leu767= Single submitter epidermodysplasia verruciformis
p.Leu82= Single submitter epidermodysplasia verruciformis
p.Lys253Asn Single submitter epidermodysplasia verruciformis
p.Lys577= Single submitter epidermodysplasia verruciformis
p.Phe241= Single submitter epidermodysplasia verruciformis
p.Phe251= Single submitter epidermodysplasia verruciformis
p.Phe258= Single submitter epidermodysplasia verruciformis
p.Phe277= Single submitter epidermodysplasia verruciformis
p.Phe366= Single submitter epidermodysplasia verruciformis
p.Phe455= Single submitter epidermodysplasia verruciformis
p.Phe557= Single submitter epidermodysplasia verruciformis
p.Phe726= Single submitter epidermodysplasia verruciformis
p.Pro169= Single submitter epidermodysplasia verruciformis
p.Pro229Leu Single submitter epidermodysplasia verruciformis
p.Pro279= Single submitter epidermodysplasia verruciformis
p.Pro318= Single submitter epidermodysplasia verruciformis
p.Pro336= Single submitter epidermodysplasia verruciformis
p.Pro498= Single submitter epidermodysplasia verruciformis
p.Pro498Arg Single submitter Inborn genetic diseases
p.Pro585= Single submitter epidermodysplasia verruciformis
p.Pro611= Single submitter epidermodysplasia verruciformis
p.Pro639= Single submitter epidermodysplasia verruciformis
p.Pro659= Single submitter epidermodysplasia verruciformis

Uncertain significance 342

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

c.1383+4C>T Multiple submitters epidermodysplasia verruciformis
p.Ala124Pro Multiple submitters epidermodysplasia verruciformis ⚠
p.Ala212Val Multiple submitters epidermodysplasia verruciformis ⚠
p.Ala233Thr Multiple submitters epidermodysplasia verruciformis ⚠
p.Ala380Thr Multiple submitters epidermodysplasia verruciformis ⚠
p.Ala432Val Multiple submitters epidermodysplasia verruciformis ⚠
p.Ala495Thr Multiple submitters epidermodysplasia verruciformis ⚠
p.Ala660Thr Multiple submitters epidermodysplasia verruciformis ⚠
p.Ala794Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg109Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg114Trp Multiple submitters epidermodysplasia verruciformis ⚠
p.Arg122His Multiple submitters epidermodysplasia verruciformis ⚠
p.Arg122Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg161Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg236Cys Multiple submitters epidermodysplasia verruciformis ⚠
p.Arg371Gln Multiple submitters epidermodysplasia verruciformis ⚠
p.Arg371Trp Multiple submitters epidermodysplasia verruciformis ⚠
p.Arg429Trp Multiple submitters epidermodysplasia verruciformis ⚠
p.Arg583Trp Multiple submitters epidermodysplasia verruciformis ⚠
p.Arg591Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg640Cys Multiple submitters epidermodysplasia verruciformis ⚠
p.Arg685Trp Multiple submitters epidermodysplasia verruciformis ⚠
p.Arg699Gly Multiple submitters epidermodysplasia verruciformis ⚠
p.Arg69Trp Multiple submitters epidermodysplasia verruciformis ⚠
p.Arg744Trp Multiple submitters epidermodysplasia verruciformis ⚠
p.Arg747Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg785Thr Multiple submitters epidermodysplasia verruciformis ⚠
p.Arg80Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg88Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg88His Multiple submitters epidermodysplasia verruciformis ⚠
p.Arg92Cys Multiple submitters epidermodysplasia verruciformis ⚠
p.Asn259Ser Multiple submitters epidermodysplasia verruciformis ⚠
p.Asn759Asp Multiple submitters epidermodysplasia verruciformis
p.Cys540Arg Multiple submitters epidermodysplasia verruciformis ⚠
p.Gln18Lys Multiple submitters Inborn genetic diseases ⚠
p.Gln39Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln416Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln43His Multiple submitters Inborn genetic diseases ⚠
p.Glu414Gly Multiple submitters epidermodysplasia verruciformis ⚠
p.Glu414Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu576Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu692Lys Multiple submitters epidermodysplasia verruciformis ⚠
p.Glu755Lys Multiple submitters epidermodysplasia verruciformis ⚠
p.Glu760Asp Multiple submitters epidermodysplasia verruciformis ⚠
p.Glu776Lys Multiple submitters epidermodysplasia verruciformis ⚠
p.Gly19Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly21Val Multiple submitters epidermodysplasia verruciformis ⚠
p.Gly298Asp Multiple submitters epidermodysplasia verruciformis ⚠
p.Gly367Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly599Trp Multiple submitters epidermodysplasia verruciformis ⚠
p.Gly694Ser Multiple submitters epidermodysplasia verruciformis ⚠
p.His647Tyr Multiple submitters epidermodysplasia verruciformis ⚠
p.Ile618Phe Multiple submitters epidermodysplasia verruciformis ⚠
p.Ile619Asn Multiple submitters epidermodysplasia verruciformis
p.Phe249Leu Multiple submitters epidermodysplasia verruciformis ⚠
p.Phe366Cys Multiple submitters epidermodysplasia verruciformis ⚠
p.Pro126Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro12Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro15Leu Multiple submitters epidermodysplasia verruciformis ⚠
p.Pro318Leu Multiple submitters epidermodysplasia verruciformis ⚠
p.Pro498Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro585Leu Multiple submitters epidermodysplasia verruciformis ⚠
p.Pro585Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro639Leu Multiple submitters Inborn genetic diseases
p.Pro642Arg Multiple submitters Inborn genetic diseases
p.Ser147Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser171Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser247Pro Multiple submitters epidermodysplasia verruciformis ⚠
p.Ser456Leu Multiple submitters epidermodysplasia verruciformis ⚠
p.Ser75Arg Multiple submitters epidermodysplasia verruciformis ⚠
p.Thr314Met Multiple submitters epidermodysplasia verruciformis ⚠
p.Thr392Met Multiple submitters epidermodysplasia verruciformis, susceptibility to, 1 ⚠
p.Thr564Met Multiple submitters epidermodysplasia verruciformis ⚠
p.Thr654Met Multiple submitters Inborn genetic diseases ⚠
p.Thr722Ser Multiple submitters epidermodysplasia verruciformis ⚠
p.Thr76Met Multiple submitters Inborn genetic diseases ⚠
p.Tyr101Phe Multiple submitters epidermodysplasia verruciformis ⚠
p.Tyr25Cys Multiple submitters epidermodysplasia verruciformis ⚠
p.Tyr25His Multiple submitters epidermodysplasia verruciformis ⚠
p.Tyr307His Multiple submitters epidermodysplasia verruciformis ⚠
p.Val106Met Multiple submitters Inborn genetic diseases ⚠
p.Val359Leu Multiple submitters Inborn genetic diseases ⚠
p.Val383Ile Multiple submitters epidermodysplasia verruciformis ⚠
p.Val433Leu Multiple submitters Inborn genetic diseases ⚠
p.Val454Ile Multiple submitters epidermodysplasia verruciformis ⚠
p.Val593Ile Multiple submitters Inborn genetic diseases ⚠
p.Val672Ile Multiple submitters epidermodysplasia verruciformis ⚠
p.Val749Ala Multiple submitters epidermodysplasia verruciformis ⚠
c.1083-9T>G Single submitter epidermodysplasia verruciformis
c.1383+5G>A Single submitter epidermodysplasia verruciformis
c.1535+6T>C Single submitter epidermodysplasia verruciformis
c.1715+6G>A Single submitter epidermodysplasia verruciformis
c.1716-8G>A Single submitter epidermodysplasia verruciformis
c.1888-6C>T Single submitter epidermodysplasia verruciformis
c.2022-3C>T Single submitter epidermodysplasia verruciformis
c.2354+3G>T Single submitter epidermodysplasia verruciformis
c.2355-1G>C Single submitter epidermodysplasia verruciformis
c.430+3G>A Single submitter epidermodysplasia verruciformis
c.430+5G>C Single submitter epidermodysplasia verruciformis
c.430+6T>C Single submitter epidermodysplasia verruciformis
c.431-10_431-5del Single submitter epidermodysplasia verruciformis
c.892-3C>T Single submitter epidermodysplasia verruciformis
p.Ala124Thr Single submitter epidermodysplasia verruciformis ⚠
p.Ala219Val Single submitter epidermodysplasia verruciformis ⚠
p.Ala223Thr Single submitter Inborn genetic diseases ⚠
p.Ala223Val Single submitter epidermodysplasia verruciformis ⚠
p.Ala257Val Single submitter Inborn genetic diseases ⚠
p.Ala276Thr Single submitter epidermodysplasia verruciformis ⚠
p.Ala297Thr Single submitter epidermodysplasia verruciformis ⚠
p.Ala297Val Single submitter epidermodysplasia verruciformis ⚠
p.Ala432Thr Single submitter epidermodysplasia verruciformis ⚠
p.Ala445Pro Single submitter epidermodysplasia verruciformis ⚠
p.Ala445Ser Single submitter epidermodysplasia verruciformis ⚠
p.Ala449Val Single submitter epidermodysplasia verruciformis ⚠
p.Ala486Thr Single submitter epidermodysplasia verruciformis ⚠
p.Ala494Gly Single submitter epidermodysplasia verruciformis
p.Ala495Gly Single submitter epidermodysplasia verruciformis ⚠
p.Ala519Thr Single submitter epidermodysplasia verruciformis ⚠
p.Ala615Thr Single submitter epidermodysplasia verruciformis ⚠
p.Ala660Val Single submitter epidermodysplasia verruciformis ⚠
p.Ala664Thr Single submitter epidermodysplasia verruciformis ⚠
p.Ala665Thr Single submitter epidermodysplasia verruciformis ⚠
p.Ala671Thr Single submitter epidermodysplasia verruciformis ⚠
p.Ala693Asp Single submitter epidermodysplasia verruciformis ⚠
p.Ala6Gly Single submitter epidermodysplasia verruciformis ⚠
p.Ala703Val Single submitter epidermodysplasia verruciformis ⚠
p.Ala77Thr Single submitter epidermodysplasia verruciformis ⚠
p.Ala793Val Single submitter epidermodysplasia verruciformis ⚠
p.Ala794Thr Single submitter epidermodysplasia verruciformis ⚠
p.Ala797Val Single submitter epidermodysplasia verruciformis ⚠
p.Ala805Val Single submitter ⚠
p.Arg104His Single submitter epidermodysplasia verruciformis ⚠
p.Arg109Gln Single submitter epidermodysplasia verruciformis ⚠
p.Arg111del Single submitter epidermodysplasia verruciformis
p.Arg114Gln Single submitter epidermodysplasia verruciformis ⚠
p.Arg122Cys Single submitter epidermodysplasia verruciformis ⚠
p.Arg129Cys Single submitter Inborn genetic diseases ⚠
p.Arg129Gly Single submitter epidermodysplasia verruciformis ⚠
p.Arg129His Single submitter epidermodysplasia verruciformis ⚠
p.Arg161Gln Single submitter epidermodysplasia verruciformis ⚠
p.Arg166Cys Single submitter epidermodysplasia verruciformis ⚠
p.Arg231Cys Single submitter epidermodysplasia verruciformis ⚠
p.Arg231His Single submitter epidermodysplasia verruciformis ⚠
p.Arg231Leu Single submitter Inborn genetic diseases ⚠
p.Arg236His Single submitter Inborn genetic diseases ⚠
p.Arg331Gly Single submitter epidermodysplasia verruciformis ⚠
p.Arg395Gln Single submitter epidermodysplasia verruciformis ⚠
p.Arg418Trp Single submitter epidermodysplasia verruciformis ⚠
p.Arg491His Single submitter epidermodysplasia verruciformis ⚠
p.Arg531Cys Single submitter epidermodysplasia verruciformis ⚠
p.Arg551Gln Single submitter epidermodysplasia verruciformis ⚠
p.Arg551Trp Single submitter epidermodysplasia verruciformis ⚠
p.Arg57Trp Single submitter epidermodysplasia verruciformis ⚠
p.Arg581Thr Single submitter epidermodysplasia verruciformis ⚠
p.Arg591Gln Single submitter epidermodysplasia verruciformis ⚠
p.Arg640His Single submitter Inborn genetic diseases ⚠
p.Arg641Gln Single submitter epidermodysplasia verruciformis ⚠
p.Arg641Trp Single submitter epidermodysplasia verruciformis ⚠
p.Arg685Gln Single submitter epidermodysplasia verruciformis ⚠
p.Arg695Ser Single submitter epidermodysplasia verruciformis ⚠
p.Arg699Cys Single submitter epidermodysplasia verruciformis ⚠
p.Arg69Gly Single submitter epidermodysplasia verruciformis ⚠
p.Arg716Leu Single submitter epidermodysplasia verruciformis ⚠
p.Arg716Trp Single submitter Inborn genetic diseases ⚠
p.Arg744Gln Single submitter epidermodysplasia verruciformis ⚠
p.Arg747His Single submitter epidermodysplasia verruciformis ⚠
p.Arg783Ser Single submitter epidermodysplasia verruciformis ⚠
p.Arg785Ser Single submitter epidermodysplasia verruciformis ⚠
p.Arg80Gly Single submitter epidermodysplasia verruciformis ⚠
p.Arg80His Single submitter epidermodysplasia verruciformis ⚠
p.Arg92His Single submitter epidermodysplasia verruciformis ⚠
p.Arg94Gln Single submitter ⚠
p.Asn316Ile Single submitter epidermodysplasia verruciformis ⚠
p.Asn338Ser Single submitter epidermodysplasia verruciformis ⚠
p.Asn513Ile Single submitter Inborn genetic diseases
p.Asn592Asp Single submitter epidermodysplasia verruciformis
p.Asn721Thr Single submitter epidermodysplasia verruciformis ⚠
p.Asp10Asn Single submitter epidermodysplasia verruciformis ⚠
p.Asp132Asn Single submitter epidermodysplasia verruciformis ⚠
p.Asp162Gly Single submitter epidermodysplasia verruciformis ⚠
p.Asp26Gly Single submitter epidermodysplasia verruciformis ⚠
p.Asp324Asn Single submitter Inborn genetic diseases ⚠
p.Asp32Asn Single submitter epidermodysplasia verruciformis ⚠
p.Asp543Gly Single submitter Inborn genetic diseases ⚠
p.Asp563His Single submitter epidermodysplasia verruciformis
p.Cys299Phe Single submitter epidermodysplasia verruciformis ⚠
p.Cys328Arg Single submitter epidermodysplasia verruciformis
p.Cys328Gly Single submitter epidermodysplasia verruciformis ⚠
p.Cys328Tyr Single submitter epidermodysplasia verruciformis ⚠
p.Cys385Tyr Single submitter Inborn genetic diseases ⚠
p.Gln154Glu Single submitter Inborn genetic diseases ⚠
p.Gln468Arg Single submitter epidermodysplasia verruciformis ⚠
p.Gln803fs Single submitter epidermodysplasia verruciformis, susceptibility to, 1
p.Glu13Lys Single submitter Inborn genetic diseases ⚠
p.Glu141Lys Single submitter Inborn genetic diseases ⚠
p.Glu142Lys Single submitter epidermodysplasia verruciformis ⚠
p.Glu144Asp Single submitter epidermodysplasia verruciformis ⚠
p.Glu152Lys Single submitter epidermodysplasia verruciformis ⚠
p.Glu29Lys Single submitter Inborn genetic diseases ⚠
p.Glu410Asp Single submitter epidermodysplasia verruciformis ⚠
p.Glu505Gln Single submitter epidermodysplasia verruciformis ⚠
p.Glu505Val Single submitter epidermodysplasia verruciformis ⚠
p.Glu51Gln Single submitter Inborn genetic diseases ⚠
p.Glu568Gln Single submitter epidermodysplasia verruciformis
p.Glu58Asp Single submitter Inborn genetic diseases ⚠
p.Glu595Asp Single submitter Inborn genetic diseases ⚠
p.Glu692Gly Single submitter Inborn genetic diseases ⚠
p.Glu71Lys Single submitter epidermodysplasia verruciformis ⚠
p.Glu755Leu Single submitter epidermodysplasia verruciformis
p.Glu762Lys Single submitter Inborn genetic diseases ⚠
p.Glu790Lys Single submitter epidermodysplasia verruciformis ⚠
p.Glu791Ala Single submitter Inborn genetic diseases ⚠
p.Gly118Arg Single submitter epidermodysplasia verruciformis ⚠
p.Gly19= Single submitter epidermodysplasia verruciformis
p.Gly19Cys Single submitter epidermodysplasia verruciformis ⚠
p.Gly217Ser Single submitter Inborn genetic diseases ⚠
p.Gly21Asp Single submitter epidermodysplasia verruciformis ⚠
p.Gly238Arg Single submitter epidermodysplasia verruciformis ⚠
p.Gly242Ser Single submitter epidermodysplasia verruciformis ⚠
p.Gly308Ser Single submitter epidermodysplasia verruciformis ⚠
p.Gly333Val Single submitter epidermodysplasia verruciformis ⚠
p.Gly377Asp Single submitter epidermodysplasia verruciformis ⚠
p.Gly485Arg Single submitter epidermodysplasia verruciformis ⚠
p.Gly530Ala Single submitter epidermodysplasia verruciformis ⚠
p.Gly606Arg Single submitter epidermodysplasia verruciformis ⚠
p.Gly663Asp Single submitter epidermodysplasia verruciformis ⚠
p.Gly745Asp Single submitter epidermodysplasia verruciformis ⚠
p.Gly761Val Single submitter epidermodysplasia verruciformis ⚠
p.His163Asn Single submitter epidermodysplasia verruciformis ⚠
p.His379Arg Single submitter Inborn genetic diseases ⚠
p.His499Arg Single submitter epidermodysplasia verruciformis ⚠
p.His715Pro Single submitter Inborn genetic diseases ⚠
p.Ile460Thr Single submitter Inborn genetic diseases ⚠
p.Ile750Met Single submitter epidermodysplasia verruciformis ⚠
p.Ile757Phe Single submitter epidermodysplasia verruciformis ⚠
p.Ile757Val Single submitter epidermodysplasia verruciformis
p.Ile81Met Single submitter epidermodysplasia verruciformis ⚠
p.Leu221_Leu224del Single submitter epidermodysplasia verruciformis
p.Leu227Pro Single submitter epidermodysplasia verruciformis ⚠
p.Leu246Pro Single submitter Inborn genetic diseases ⚠
p.Leu250Phe Single submitter epidermodysplasia verruciformis ⚠
p.Leu252Phe Single submitter epidermodysplasia verruciformis
p.Leu261Phe Single submitter epidermodysplasia verruciformis ⚠
p.Leu264Gln Single submitter epidermodysplasia verruciformis
p.Leu293Phe Single submitter epidermodysplasia verruciformis ⚠
p.Leu344Pro Single submitter epidermodysplasia verruciformis ⚠
p.Leu37Pro Single submitter epidermodysplasia verruciformis
p.Leu428Pro Single submitter epidermodysplasia verruciformis ⚠
p.Leu440Arg Single submitter epidermodysplasia verruciformis
p.Leu481His Single submitter epidermodysplasia verruciformis ⚠
p.Leu481Ile Single submitter epidermodysplasia verruciformis ⚠
p.Leu481Pro Single submitter epidermodysplasia verruciformis ⚠
p.Leu482Phe Single submitter epidermodysplasia verruciformis ⚠
p.Leu536Val Single submitter ⚠
p.Leu565His Single submitter Inborn genetic diseases ⚠
p.Leu596Pro Single submitter Inborn genetic diseases ⚠
p.Leu605Pro Single submitter epidermodysplasia verruciformis ⚠
p.Leu608Phe Single submitter epidermodysplasia verruciformis ⚠
p.Leu662Pro Single submitter epidermodysplasia verruciformis ⚠
p.Leu752Pro Single submitter epidermodysplasia verruciformis ⚠
p.Lys235Thr Single submitter epidermodysplasia verruciformis ⚠
p.Lys253Arg Single submitter epidermodysplasia verruciformis ⚠
p.Lys577Glu Single submitter epidermodysplasia verruciformis, susceptibility to, 1 ⚠
p.Lys629del Single submitter epidermodysplasia verruciformis
p.Lys748Asn Single submitter epidermodysplasia verruciformis ⚠
p.Lys770Asn Single submitter epidermodysplasia verruciformis ⚠
p.Met168Ile Single submitter Inborn genetic diseases ⚠
p.Met1Val Single submitter epidermodysplasia verruciformis
p.Met362Thr Single submitter Inborn genetic diseases ⚠
p.Met459Thr Single submitter Inborn genetic diseases ⚠
p.Met459Val Single submitter epidermodysplasia verruciformis ⚠
p.Met560del Single submitter epidermodysplasia verruciformis
p.Met690Thr Single submitter Inborn genetic diseases
p.Phe249= Single submitter epidermodysplasia verruciformis
p.Phe269Val Single submitter Inborn genetic diseases ⚠
p.Phe366Leu Single submitter Inborn genetic diseases ⚠
p.Phe458Leu Single submitter epidermodysplasia verruciformis ⚠
p.Phe587Leu Single submitter epidermodysplasia verruciformis ⚠
p.Phe658Val Single submitter epidermodysplasia verruciformis, susceptibility to, 1 ⚠
p.Pro137Ser Single submitter epidermodysplasia verruciformis ⚠
p.Pro24Leu Single submitter epidermodysplasia verruciformis ⚠
p.Pro330Ala Single submitter Inborn genetic diseases ⚠
p.Pro330Leu Single submitter epidermodysplasia verruciformis ⚠
p.Pro340Ser Single submitter epidermodysplasia verruciformis ⚠
p.Pro421Thr Single submitter epidermodysplasia verruciformis ⚠
p.Pro487Ser Single submitter epidermodysplasia verruciformis ⚠
p.Pro4Thr Single submitter epidermodysplasia verruciformis ⚠
p.Pro614Ser Single submitter epidermodysplasia verruciformis ⚠
p.Pro659_Phe661dup Single submitter epidermodysplasia verruciformis
p.Pro677Ser Single submitter epidermodysplasia verruciformis ⚠
p.Pro706Leu Single submitter epidermodysplasia verruciformis ⚠
p.Pro70Ser Single submitter epidermodysplasia verruciformis ⚠
p.Pro712Leu Single submitter epidermodysplasia verruciformis ⚠
p.Pro795Ser Single submitter epidermodysplasia verruciformis ⚠
p.Pro796Leu Single submitter epidermodysplasia verruciformis ⚠
p.Ser23Gly Single submitter epidermodysplasia verruciformis ⚠
p.Ser28Asn Single submitter epidermodysplasia verruciformis ⚠
p.Ser28Cys Single submitter epidermodysplasia verruciformis ⚠
p.Ser321Arg Single submitter Inborn genetic diseases ⚠
p.Ser369Thr Single submitter epidermodysplasia verruciformis ⚠