Sugi Variant

Sugi Variant/RHBDF2

RHBDF2 — 548 ClinVar variants

All ClinVar germline RHBDF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 287 flagged for review →

1 Pathogenic/Likely pathogenic · 32 Conflicting · 42 Benign · 32 Benign/Likely benign · 110 Likely benign · 331 Uncertain significance

Full RHBDF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 287

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 24

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

Predictors lean, ClinVar uncertain 221

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 221

Predictors split 42

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

All RHBDF2 variants

Pathogenic/Likely pathogenic 1

Conflicting classifications of pathogenicity 32

  • p.Ala285Thr Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Ala789Thr Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg107Trp Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg112His Single submitter Inborn genetic diseases ⚠
  • p.Arg121Cys Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg131Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg131His Single submitter Inborn genetic diseases ⚠
  • p.Arg163Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg205Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg206Pro Single submitter Inborn genetic diseases
  • p.Arg235Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg319Gln Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg335Gln Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg355Cys Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg412Gln Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg449Gln Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg466Trp Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg484Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg68Gln Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Asn722Lys Single submitter Inborn genetic diseases ⚠
  • p.Asp499Tyr Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Gly317Arg Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Gly511Ser Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Gly9Arg Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Leu459Val Single submitter Inborn genetic diseases ⚠
  • p.Lys496Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys52Arg Single submitter Inborn genetic diseases ⚠
  • p.Met120Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro160Leu Single submitter RHBDF2-related disorder ⚠
  • p.Ser227Leu Single submitter Inborn genetic diseases ⚠
  • p.Val11Met Single submitter Inborn genetic diseases ⚠
  • p.Val638Met Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠

Benign 42

  • c.1116-75C>T Multiple submitters
  • c.150+117T>C Multiple submitters
  • c.151-109C>G Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.151-39G>T Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.2064+216T>C Multiple submitters
  • c.273-50C>T Multiple submitters
  • c.-14G>A Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.-21-64G>A Multiple submitters
  • c.*511G>A Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*51G>C Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*551G>A Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*551G>C Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*580C>T Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*619A>G Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*698C>G Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*711A>G Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Ala220Thr Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Ala636= Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Gly343= Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Pro179Leu Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Ser10Arg Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Ser263Phe Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.1115+20C>T Single submitter
  • c.1228-5G>A Single submitter
  • c.150+279C>T Single submitter
  • c.151-187CA[12] Single submitter
  • c.151-187CA[16] Single submitter
  • c.151-187CA[18] Single submitter
  • c.151-187CA[19] Single submitter
  • c.151-187CA[20] Single submitter
  • c.1734-6C>A Single submitter
  • c.801+145dup Single submitter
  • c.-115G>A Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.-272C>A Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.-305C>G Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*116G>A Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*181C>T Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*198G>A Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*551G>T Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*703G>A Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*742A>C Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Pro539= Single submitter

Benign/Likely benign 32

  • c.1116-12G>A Multiple submitters
  • c.1116-7T>C Multiple submitters
  • c.1575-16T>A Multiple submitters
  • c.1638+12T>C Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.1638+7G>A Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.1639-11C>G Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.1639-11C>T Multiple submitters
  • c.1809+7C>T Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.2064+7A>G Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.802-8C>G Multiple submitters
  • c.921-15C>T Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Ala332Val Multiple submitters
  • p.Ala755= Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Ala93Thr Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Arg175= Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Arg460= Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Arg80Cys Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Arg80His Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Gln109His Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Glu71= Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Gly105Glu Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Leu57= Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Leu613= Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Met562Val Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Phe265= Multiple submitters
  • p.Pro170= Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Pro182= Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Pro300= Multiple submitters
  • p.Ser227= Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Ser533= Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Val187= Multiple submitters
  • p.Val604= Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome

Likely benign 110

Uncertain significance 331

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

  • c.151-27G>T Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • c.151-86G>A Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Ala397Ser Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Ala700Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala725Val Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg113His Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg205His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg206Cys Multiple submitters Inborn genetic diseases
  • p.Arg206His Multiple submitters ⚠
  • p.Arg226Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg235Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg237Trp Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg289Gln Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg312Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg319Trp Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg323Cys Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg351Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg449Trp Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg466Gln Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg569His Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg663Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg66Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg68Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg715Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg76Cys Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg815Cys Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Cys392Gly Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Gln234Glu Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Gln44Arg Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Glu818Lys Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Gly123Ser Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Gly233Arg Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Gly341Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly415Arg Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Gly577Asp Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.His640Tyr Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.His827Pro Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Ile396Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ile435Met Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Ile89Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Leu411Pro Multiple submitters ⚠
  • p.Leu721Phe Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Leu777Val Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Lys207Glu Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Met47Val Multiple submitters Inborn genetic diseases ⚠
  • p.Pro136Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Pro141Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro151Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Pro25Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro274Thr Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Pro282Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Pro292Ser Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Pro32Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro504Leu Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Pro546Leu Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Ser10Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser12Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser434Leu Multiple submitters Inborn genetic diseases
  • p.Ser445Leu Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Thr599Ile Multiple submitters Inborn genetic diseases
  • p.Tyr797His Multiple submitters Inborn genetic diseases ⚠
  • p.Val11Gly Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Val344Met Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Val382Ile Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Val399Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val405Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val60Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Val791Met Multiple submitters palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • c.1115_1115+130dup Single submitter
  • c.1115+10C>G Single submitter
  • c.1227+11T>C Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.1228-3T>C Single submitter
  • c.1302+12G>A Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.1302+3G>A Single submitter
  • c.1302+8C>T Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.1465-16_1465-15delinsGC Single submitter
  • c.151-23G>A Single submitter Inborn genetic diseases ⚠
  • c.151-41C>G Single submitter Inborn genetic diseases ⚠
  • c.151-50G>A Single submitter ⚠
  • c.151-57C>T Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.151-58C>A Single submitter Inborn genetic diseases ⚠
  • c.151-59G>A Single submitter Inborn genetic diseases ⚠
  • c.151-75A>G Single submitter ⚠
  • c.1575-8G>A Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.1638+6T>C Single submitter
  • c.1639-18G>A Single submitter
  • c.1809+11G>T Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.1810-56G>A Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.1910+6A>T Single submitter
  • c.2064+231A>G Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.672+5G>A Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.-175A>G Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.-175A>T Single submitter
  • c.-219-10T>C Single submitter
  • c.-220+12G>A Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.-228C>T Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.-43G>A Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*160G>A Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*182G>A Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*205C>T Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*287C>T Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*310G>A Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*342T>C Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*366C>G Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*405T>C Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*449C>T Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*475T>G Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*536G>A Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*537G>A Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*53G>T Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*590C>T Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*606C>T Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*642G>A Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*702C>G Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • c.*726T>G Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Ala127Val Single submitter ⚠
  • p.Ala162Pro Single submitter ⚠
  • p.Ala162Ser Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Ala295Thr Single submitter ⚠
  • p.Ala397Thr Single submitter Inborn genetic diseases
  • p.Ala55Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala665Thr Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Ala678Thr Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Ala784Val Single submitter Inborn genetic diseases ⚠
  • p.Ala788Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala83Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala94Thr Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Ala94Val Single submitter Inborn genetic diseases ⚠
  • p.Arg113Cys Single submitter ⚠
  • p.Arg121His Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg124Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg124His Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg124Leu Single submitter ⚠
  • p.Arg163Gln Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Arg165Gln Single submitter ⚠
  • p.Arg175Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg18Cys Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg18His Single submitter Inborn genetic diseases ⚠
  • p.Arg197Cys Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg197Gly Single submitter ⚠
  • p.Arg197His Single submitter ⚠
  • p.Arg226His Single submitter Inborn genetic diseases ⚠
  • p.Arg22Gln Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg237Gln Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg241His Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg289Ter Single submitter
  • p.Arg319Pro Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg320Cys Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Arg355His Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg363Gln Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg363Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg372Gln Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Arg372Trp Single submitter ⚠
  • p.Arg412Trp Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg462Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg484Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg514Trp Single submitter
  • p.Arg569Cys Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg584Trp Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg663His Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg66Cys Single submitter ⚠
  • p.Arg686Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg76Ser Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg771His Single submitter ⚠
  • p.Arg773Gln Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg815His Single submitter ⚠
  • p.Arg81His Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Arg90Cys Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Asn26Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn347Asp Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Asn800Asp Single submitter Inborn genetic diseases ⚠
  • p.Asp102Asn Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Asp252Asn Single submitter ⚠
  • p.Asp255Asn Single submitter ⚠
  • p.Asp258His Single submitter Inborn genetic diseases ⚠
  • p.Asp261Tyr Single submitter Inborn genetic diseases
  • p.Asp301Asn Single submitter ⚠
  • p.Asp301Tyr Single submitter ⚠
  • p.Asp334His Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Asp369Asn Single submitter ⚠
  • p.Asp369Val Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Asp523Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp540Asn Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Asp654Tyr Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Asp823Asn Single submitter Inborn genetic diseases ⚠
  • p.Cys129Ser Single submitter ⚠
  • p.Cys487Gly Single submitter Inborn genetic diseases ⚠
  • p.Cys579Trp Single submitter Inborn genetic diseases ⚠
  • p.Cys601Tyr Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Cys606Trp Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Cys817= Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Gln138Glu Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Gln217His Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Gln234Arg Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Gln498Arg Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Gln695His Single submitter Inborn genetic diseases ⚠
  • p.Gln824Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln82Arg Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Glu134Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu366Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu418Lys Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Glu43fs Single submitter
  • p.Glu455Lys Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Glu461Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu489Asp Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Glu528Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu529Ala Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Glu565Lys Single submitter Inborn genetic diseases ⚠
  • p.Gly101Ser Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Gly105Arg Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Gly164Asp Single submitter ⚠
  • p.Gly186Arg Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Gly256Arg Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Gly317Ala Single submitter ⚠
  • p.Gly343Ser Single submitter ⚠
  • p.Gly415Val Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Gly42= Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Gly431Arg Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Gly441Glu Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Gly452Arg Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Gly534Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly660Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly765Ser Single submitter ⚠
  • p.Gly785Ser Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.His180Asp Single submitter Inborn genetic diseases ⚠
  • p.His180Tyr Single submitter ⚠
  • p.His339Gln Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.His371Gln Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.His383Gln Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.His404Gln Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.His536Tyr Single submitter Inborn genetic diseases ⚠
  • p.His744Asn Single submitter ⚠
  • p.Ile423Asn Single submitter Inborn genetic diseases ⚠
  • p.Ile435Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile573Val Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Ile666Val Single submitter ⚠
  • p.Ile681Val Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Ile726Val Single submitter Inborn genetic diseases ⚠
  • p.Ile732Met Single submitter Inborn genetic diseases ⚠
  • p.Ile762Val Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Leu190Pro Single submitter ⚠
  • p.Leu216Trp Single submitter Inborn genetic diseases ⚠
  • p.Leu222= Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Leu307Val Single submitter ⚠
  • p.Leu464_Asp467del Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Leu617= Single submitter
  • p.Leu62Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu642Phe Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Leu670Phe Single submitter ⚠
  • p.Leu749Val Single submitter ⚠
  • p.Leu780Val Single submitter Inborn genetic diseases ⚠
  • p.Lys153Arg Single submitter ⚠
  • p.Lys153Met Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Lys322Asn Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Lys337Asn Single submitter ⚠
  • p.Lys443Arg Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Lys567Arg Single submitter ⚠
  • p.Lys657Glu Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Met173Thr Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Met562Leu Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Phe143fs Single submitter
  • p.Phe193Val Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Phe331Leu Single submitter ⚠
  • p.Phe368Leu Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Phe381Val Single submitter Inborn genetic diseases ⚠
  • p.Phe428Val Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Phe696= Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Pro170Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro24Ser Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Pro274= Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Pro297Ser Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Pro300Arg Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Pro316Ser Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Pro33Leu Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Pro34Ser Single submitter ⚠
  • p.Pro398Ser Single submitter
  • p.Pro503Leu Single submitter ⚠
  • p.Pro503Ser Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Pro546Ser Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Pro615Arg Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Pro691= Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Pro691Leu Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Pro711Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser10Ile Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Ser114Arg Single submitter ⚠
  • p.Ser128Leu Single submitter ⚠
  • p.Ser13Pro Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Ser148Phe Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Ser195Asn Single submitter ⚠
  • p.Ser21Ile Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Ser262Asp Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Ser266fs Single submitter
  • p.Ser280Cys Single submitter
  • p.Ser356Gly Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Ser434Pro Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome
  • p.Ser602Thr Single submitter ⚠
  • p.Ser724Leu Single submitter palmoplantar keratoderma-esophageal carcinoma syndrome ⚠
  • p.Ser84Pro Single submitter Inborn genetic diseases ⚠
  • p.Thr146Ile Single submitter ⚠
  • p.Thr259Met Single submitter ⚠