CD8A — 201 ClinVar variants

All ClinVar germline CD8A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 76 flagged for review →

2 Pathogenic · 2 Conflicting · 5 Benign · 5 Benign/Likely benign · 99 Likely benign · 88 Uncertain significance

Full CD8A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 76

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 1

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

Predictors lean, ClinVar uncertain 37

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 38

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

All CD8A variants

Pathogenic 2

  • p.Arg107Ter Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Gly111Ser Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation

Conflicting classifications of pathogenicity 2

  • c.50-17_50-16delinsGG Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Ala63Gly Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠

Benign 5

  • c.403+11C>T Multiple submitters susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Ala149= Multiple submitters susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Leu189= Multiple submitters susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.404-18G>T Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.-17G>A Single submitter

Benign/Likely benign 5

  • c.515-6C>T Multiple submitters susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Ala135= Multiple submitters susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Arg93= Multiple submitters susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Leu100Phe Multiple submitters susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Thr51= Multiple submitters susceptibility to respiratory infections associated with CD8alpha chain mutation

Likely benign 99

  • p.Leu16Phe Multiple submitters susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • c.403+10C>T Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.403+15T>A Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.403+19G>A Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.403+19G>C Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.404-10G>C Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.404-10G>T Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.404-19C>T Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.404-9C>T Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.41_50-20dup Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.49+17C>T Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.49+19G>A Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.49+7T>G Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.50-18G>T Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.50-4G>A Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.50-6C>T Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.50-8G>C Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.50-8G>T Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.514+10G>T Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.514+11dup Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.514+12G>A Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.514+16G>A Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.514+17C>T Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.514+18C>T Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.514+20G>A Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.514+20G>C Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.514+7C>G Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.514+9T>G Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.515-14T>C Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.515-17G>T Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.515-5_515-3del Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.515-5G>T Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.515-6C>G Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.515-9del Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.625+10G>A Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.625+12G>A Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.625+12G>T Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.625+8C>T Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.626-5T>C Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.656+14G>A Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.657-11CT[2] Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.657-17G>A Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.657-8T>C Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Ala13= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Ala142= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Ala167= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Ala168= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Ala187= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Ala190= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Ala2= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Ala232= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Ala64= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Ala80= Single submitter
  • p.Arg144= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Arg165= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Arg175= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Arg20= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Arg88= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Asn34= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Cys43= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Gln23= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Glu162= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Gly176= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Ile152= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Leu10= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Leu133= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Leu157= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Leu197= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Leu198= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Leu41= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Leu47= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Leu57= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Leu9= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Leu94= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Lys77= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Phe128= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Phe24= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Pro11= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Pro148= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Pro166= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Pro21= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Pro4= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Pro60= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Ser224= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Ser229= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Ser52= Single submitter
  • p.Ser55= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Ser90= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Thr139= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Thr174= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Thr203= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Thr32= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Thr38= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Thr6= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Thr97= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Tyr124= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Tyr234= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Val235= Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Ser116= No assertion criteria CD8A-related disorder

Uncertain significance 88

  • c.403+4C>G Multiple submitters susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.626-2A>T Multiple submitters susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Arg165Pro Multiple submitters susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Arg233_Tyr234insTer Multiple submitters susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.His127Tyr Multiple submitters susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.His208Leu Multiple submitters susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Pro130Arg Multiple submitters susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Ser229Arg Multiple submitters susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Ser231Leu Multiple submitters susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Ser74Phe Multiple submitters susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • c.403+5_403+6delinsTT Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.49+3G>A Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.514+1G>A Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.514+6G>T Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • c.625+5G>A Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Ala13Pro Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Ala149Glu Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Ala149Thr Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Ala168Gly Single submitter ⚠
  • p.Ala171fs Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Ala171Thr Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Ala187Glu Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Ala18Ser Single submitter ⚠
  • p.Ala190Asp Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Ala190Thr Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Ala19Ser Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Ala81Pro Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Ala81Thr Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Arg106Cys Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Arg160Ser Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Arg165Gln Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Arg165Leu Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Arg175Thr Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Arg219Gln Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Arg219Gly Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Arg219Leu Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Arg219Trp Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Arg233Thr Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Arg93Lys Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Arg93Ser Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Asn120Ser Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Asp96Phe Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Cys181Arg Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Cys215Tyr Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Gln44Arg Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Gln75Leu Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Gly111Cys Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Gly170Val Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Gly176Ala Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Ile183Val Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Leu10Arg Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Leu118Gln Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Leu157Arg Single submitter ⚠
  • p.Leu197Phe Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Leu198del Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Leu204Phe Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Leu35Gln Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Leu3Ser Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Leu46Arg Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Leu73Arg Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Leu73Val Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Met123_Tyr124delinsLeuSerAsn Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Phe114Leu Single submitter ⚠
  • p.Phe128Val Single submitter ⚠
  • p.Phe132Leu Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Phe132Val Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Phe58Tyr Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Pro130Leu Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Pro137Leu Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Pro143Arg Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Pro150Leu Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Pro156Thr Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Pro188Ser Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Pro21Gln Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Pro60Ala Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Pro60Ser Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Ser119Arg Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Ser121Cys Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Ser199Pro Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Ser22Gly Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Ser90Pro Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Thr138Ile Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Tyr113Asn Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Tyr113del Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation
  • p.Tyr124Asn Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Tyr124Phe Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Val172Met Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠
  • p.Val26Leu Single submitter susceptibility to respiratory infections associated with CD8alpha chain mutation ⚠