TAPBP — 383 ClinVar variants
All ClinVar germline TAPBP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 188 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 10 Conflicting · 9 Benign · 7 Benign/Likely benign · 130 Likely benign · 225 Uncertain significance
Full TAPBP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 188
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 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TAPBP p.Ala192Thr
Conflicting
Single submitter
MHC class I deficiency
-
TAPBP p.Ala351Val
Conflicting
Single submitter
MHC class I deficiency
-
TAPBP p.Arg303Trp
Conflicting
Single submitter
MHC class I deficiency
-
TAPBP p.Pro197Leu
Conflicting
Single submitter
MHC class I deficiency
-
TAPBP p.Thr165Ser
Conflicting
Single submitter
MHC class I deficiency
-
TAPBP p.Thr188Ile
Conflicting
Single submitter
MHC class I deficiency
Predictors lean, ClinVar uncertain 147
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TAPBP p.Ala191Thr
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Ala220Val
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Ala305Ser
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Ala305Thr
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Ala309Glu
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Ala396Thr
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Ala433Thr
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Arg303Gln
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Arg333Trp
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Arg339His
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Arg353His
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Arg379Cys
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Arg383Gln
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Arg394Cys
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Asn114Lys
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Asn253Ser
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Cys115Ser
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Glu63Asp
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Gly325Asp
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Gly325Val
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.His90Arg
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Ile25Val
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Leu410Pro
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Met125Val
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Pro186Ser
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Pro201Ser
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Pro246Leu
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Pro368Leu
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Pro54Leu
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Pro62Leu
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Ser3Thr
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Thr165Asn
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Thr188Ser
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Thr399Asn
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Val18Ala
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Val68Ala
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Ala155Gly
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Ala167Thr
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Ala20Val
Uncertain significance
Single submitter
MHC class I deficiency
- TAPBP p.Ala219Thr Uncertain significance Single submitter
-
TAPBP p.Ala235Val
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Ala23Val
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Ala240Val
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Ala287Thr
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Ala33Gly
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Ala33Val
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Ala391Gly
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Ala391Val
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Ala420Thr
Uncertain significance
Single submitter
MHC class I deficiency
- TAPBP p.Ala433Gly Uncertain significance Single submitter
-
TAPBP p.Ala434Thr
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Ala72Gly
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Ala72Val
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Arg117Trp
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Arg169Leu
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Arg207Gln
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Arg208Leu
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Arg347Ser
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Arg394His
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Arg48Leu
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Arg48Pro
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Arg81Trp
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Arg84Gln
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Asp120Gly
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Asp243Gly
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Asp357Asn
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Asp59Ala
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Cys27Phe
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Gln262Arg
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Gln281Glu
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Gln76Lys
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Glu190Lys
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Glu233Ala
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Glu245Lys
Uncertain significance
Single submitter
MHC class I deficiency
- TAPBP p.Glu308Asp Uncertain significance Single submitter
- TAPBP p.Glu53Ala Uncertain significance Single submitter
-
TAPBP p.Glu53Lys
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Glu92Gly
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Gly198Asp
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Gly203Val
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Gly212Ser
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Gly252Arg
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Gly267Ser
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Gly334Asp
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Gly337Arg
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Gly338Asp
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Gly358Ser
Uncertain significance
Single submitter
MHC class I deficiency
- TAPBP p.Gly404Cys Uncertain significance Single submitter
-
TAPBP p.Gly404Ser
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Gly431Ala
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Gly50Glu
Uncertain significance
Single submitter
MHC class I deficiency
- TAPBP p.Gly52Glu Uncertain significance Single submitter
-
TAPBP p.His274Tyr
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.His69Tyr
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Ile128Val
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Ile273Met
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Leu138His
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Leu178Met
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Leu217Val
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Leu284Val
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Leu38Arg
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Leu405His
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Leu6Pro
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Met125Ile
Uncertain significance
Single submitter
MHC class I deficiency
- TAPBP p.Met228Ile Uncertain significance Single submitter
-
TAPBP p.Met93Ile
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Met93Val
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Phe427Leu
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Pro141Arg
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Pro149His
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Pro199Leu
Uncertain significance
Single submitter
MHC class I deficiency
- TAPBP p.Pro263Leu Uncertain significance Single submitter
-
TAPBP p.Pro291His
Uncertain significance
Single submitter
MHC class I deficiency
- TAPBP p.Pro292Leu Uncertain significance Single submitter
-
TAPBP p.Pro311Leu
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Pro368Ala
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Pro42Leu
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Pro55Ser
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Pro56Ser
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Pro58Leu
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Pro62Ala
Uncertain significance
Single submitter
MHC class I deficiency
- TAPBP p.Pro87Arg Uncertain significance Single submitter
-
TAPBP p.Ser130Asn
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Ser134Arg
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Ser137Gly
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Ser137Thr
Uncertain significance
Single submitter
MHC class I deficiency
- TAPBP p.Ser19Leu Uncertain significance Single submitter
-
TAPBP p.Ser361Arg
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Ser392Leu
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Ser395Arg
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Ser5Phe
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Thr110Ser
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Thr153Pro
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Thr188Ala
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Trp330Ser
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Tyr184His
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Tyr380His
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Tyr82Cys
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Val126Ile
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Val150Asp
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Val161Ile
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Val236Leu
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Val236Met
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Val24Ala
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Val414Ile
Uncertain significance
Single submitter
MHC class I deficiency
- TAPBP p.Val435Ile Uncertain significance Single submitter
-
TAPBP p.Val97Leu
Uncertain significance
Single submitter
MHC class I deficiency
Predictors split 35
The independent predictors disagree with each other — read with care.
-
TAPBP p.Arg208Cys
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Arg379Gly
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAPBP p.Pro310Ser
Uncertain significance
Multiple submitters
MHC class I deficiency
- TAPBP p.Ala271Pro Uncertain significance Single submitter
- TAPBP p.Ala343Ser Uncertain significance Single submitter
- TAPBP p.Ala434Pro Uncertain significance Single submitter
-
TAPBP p.Arg353Cys
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Arg57Trp
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Asp357His
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Glu312Gly
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Gly267Asp
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Gly280Glu
Uncertain significance
Single submitter
MHC class I deficiency
- TAPBP p.Gly393Trp Uncertain significance Single submitter
-
TAPBP p.Gly43Asp
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.His355Tyr
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.His376Tyr
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Leu349Pro
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Leu46Pro
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Lys290Asn
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Phe238Leu
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Phe96Ser
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Pro229Ser
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Pro259Leu
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Pro369Ser
Uncertain significance
Single submitter
MHC class I deficiency
- TAPBP p.Pro370Leu Uncertain significance Single submitter
- TAPBP p.Pro408Thr Uncertain significance Single submitter
-
TAPBP p.Pro54Arg
Conflicting
Single submitter
MHC class I deficiency
-
TAPBP p.Ser127Arg
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Ser130Ile
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Ser340Cys
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Ser350Leu
Uncertain significance
Single submitter
MHC class I deficiency
- TAPBP p.Ser361Gly Uncertain significance Single submitter
-
TAPBP p.Trp250Arg
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Val282Phe
Uncertain significance
Single submitter
MHC class I deficiency
-
TAPBP p.Val317Met
Uncertain significance
Single submitter
MHC class I deficiency
All TAPBP variants
Pathogenic 1
- c.469+3326_1336-732del No assertion criteria MHC class I deficiency 3
Likely pathogenic 1
- p.Val317fs Single submitter MHC class I deficiency 3
Conflicting classifications of pathogenicity 10
- p.Ala192Thr Single submitter MHC class I deficiency ⚠
- p.Ala351Val Single submitter MHC class I deficiency ⚠
- p.Arg207Ter Single submitter MHC class I deficiency
- p.Arg303Trp Single submitter MHC class I deficiency ⚠
- p.Lys104fs Single submitter MHC class I deficiency
- p.Pro197= Single submitter MHC class I deficiency
- p.Pro197Leu Single submitter MHC class I deficiency ⚠
- p.Pro54Arg Single submitter MHC class I deficiency ⚠
- p.Thr165Ser Single submitter MHC class I deficiency ⚠
- p.Thr188Ile Single submitter MHC class I deficiency ⚠
Benign 9
- p.Gly324= Multiple submitters MHC class I deficiency
- p.Leu418= Multiple submitters MHC class I deficiency
- p.Ser413= Multiple submitters MHC class I deficiency
- c.1210+20C>T Single submitter MHC class I deficiency
- c.1301-5dup Single submitter MHC class I deficiency
- c.-24C>A Single submitter MHC class I deficiency
- c.-25T>A Single submitter MHC class I deficiency
- p.Gly35Arg Single submitter MHC class I deficiency
- p.Pro111= Single submitter MHC class I deficiency
Benign/Likely benign 7
- c.1301-14A>G Multiple submitters MHC class I deficiency
- c.37+13C>G Multiple submitters MHC class I deficiency
- p.Ala191= Multiple submitters MHC class I deficiency
- p.Gln227= Multiple submitters MHC class I deficiency
- p.Lys428= Multiple submitters MHC class I deficiency
- p.Pro58= Multiple submitters MHC class I deficiency
- p.Thr260Arg Multiple submitters MHC class I deficiency
Likely benign 130
- c.1210+11G>A Multiple submitters MHC class I deficiency
- c.1335+126G>C Multiple submitters
- c.1336-4C>A Multiple submitters MHC class I deficiency
- c.37+10C>G Multiple submitters MHC class I deficiency
- c.869-16C>T Multiple submitters MHC class I deficiency
- p.Ala192= Multiple submitters MHC class I deficiency
- p.Ala343= Multiple submitters MHC class I deficiency
- p.Arg208His Multiple submitters MHC class I deficiency
- p.Asp412Asn Multiple submitters MHC class I deficiency
- p.Asp59Tyr Multiple submitters MHC class I deficiency
- p.Glu245= Multiple submitters MHC class I deficiency
- p.Gly338= Multiple submitters MHC class I deficiency
- p.His376= Multiple submitters MHC class I deficiency
- p.Leu316= Multiple submitters MHC class I deficiency
- p.Phe256= Multiple submitters MHC class I deficiency
- p.Pro368= Multiple submitters MHC class I deficiency
- p.Pro58Ser Multiple submitters MHC class I deficiency
- p.Ser189= Multiple submitters MHC class I deficiency
- p.Ser19= Multiple submitters MHC class I deficiency
- p.Ser356= Multiple submitters MHC class I deficiency
- p.Ser392= Multiple submitters MHC class I deficiency
- p.Ser438= Multiple submitters MHC class I deficiency
- p.Thr251= Multiple submitters MHC class I deficiency
- p.Thr300= Multiple submitters MHC class I deficiency
- c.1210+7G>C Single submitter MHC class I deficiency
- c.1210+8C>T Single submitter MHC class I deficiency
- c.1211-16C>T Single submitter
- c.1300+11G>C Single submitter MHC class I deficiency
- c.1300+16A>G Single submitter
- c.1300+17C>A Single submitter MHC class I deficiency
- c.1300+18C>G Single submitter MHC class I deficiency
- c.1300+8T>C Single submitter MHC class I deficiency
- c.1335+14C>T Single submitter MHC class I deficiency
- c.1335+15C>G Single submitter
- c.1335+20T>C Single submitter MHC class I deficiency
- c.1335+42A>G Single submitter
- c.1335+53C>G Single submitter
- c.208+15A>T Single submitter MHC class I deficiency
- c.208+18C>T Single submitter MHC class I deficiency
- c.208+19G>A Single submitter MHC class I deficiency
- c.209-17T>A Single submitter MHC class I deficiency
- c.37+14G>A Single submitter MHC class I deficiency
- c.37+16G>T Single submitter MHC class I deficiency
- c.38-16C>T Single submitter MHC class I deficiency
- c.38-18C>T Single submitter MHC class I deficiency
- c.38-5G>A Single submitter MHC class I deficiency
- c.469+18G>A Single submitter MHC class I deficiency
- c.469+8G>C Single submitter MHC class I deficiency
- c.470-15C>T Single submitter
- c.868+11G>A Single submitter MHC class I deficiency
- c.869-12C>T Single submitter MHC class I deficiency
- c.869-15G>A Single submitter MHC class I deficiency
- p.Ala15= Single submitter MHC class I deficiency
- p.Ala219= Single submitter MHC class I deficiency
- p.Ala23= Single submitter MHC class I deficiency
- p.Ala235= Single submitter MHC class I deficiency
- p.Ala304= Single submitter MHC class I deficiency
- p.Ala33= Single submitter MHC class I deficiency
- p.Ala381= Single submitter MHC class I deficiency
- p.Ala396= Single submitter MHC class I deficiency
- p.Ala72= Single submitter MHC class I deficiency
- p.Arg169= Single submitter MHC class I deficiency
- p.Arg303= Single submitter MHC class I deficiency
- p.Arg333Gln Single submitter MHC class I deficiency
- p.Arg347= Single submitter MHC class I deficiency
- p.Arg81= Single submitter MHC class I deficiency
- p.Asn114= Single submitter MHC class I deficiency
- p.Asp59= Single submitter MHC class I deficiency
- p.Asp61= Single submitter MHC class I deficiency
- p.Gln142= Single submitter MHC class I deficiency
- p.Glu205= Single submitter MHC class I deficiency
- p.Glu401= Single submitter MHC class I deficiency
- p.Gly13= Single submitter MHC class I deficiency
- p.Gly325= Single submitter MHC class I deficiency
- p.Gly85= Single submitter MHC class I deficiency
- p.His365= Single submitter MHC class I deficiency
- p.Leu124= Single submitter MHC class I deficiency
- p.Leu138= Single submitter MHC class I deficiency
- p.Leu139= Single submitter
- p.Leu159= Single submitter MHC class I deficiency
- p.Leu177= Single submitter MHC class I deficiency
- p.Leu178= Single submitter MHC class I deficiency
- p.Leu195= Single submitter MHC class I deficiency
- p.Leu211= Single submitter MHC class I deficiency
- p.Leu258= Single submitter MHC class I deficiency
- p.Leu284= Single submitter MHC class I deficiency
- p.Leu301= Single submitter MHC class I deficiency
- p.Leu316Phe Single submitter MHC class I deficiency
- p.Leu410Phe Single submitter MHC class I deficiency
- p.Leu416= Single submitter MHC class I deficiency
- p.Leu437= Single submitter MHC class I deficiency
- p.Leu45= Single submitter MHC class I deficiency
- p.Leu46= Single submitter MHC class I deficiency
- p.Leu47= Single submitter MHC class I deficiency
- p.Leu66= Single submitter MHC class I deficiency
- p.Leu7= Single submitter MHC class I deficiency
- p.Leu8= Single submitter MHC class I deficiency
- p.Lys342= Single submitter MHC class I deficiency
- p.Lys36= Single submitter MHC class I deficiency
- p.Phe320= Single submitter
- p.Pro100= Single submitter MHC class I deficiency
- p.Pro116= Single submitter MHC class I deficiency
- p.Pro186= Single submitter MHC class I deficiency
- p.Pro187= Single submitter MHC class I deficiency
- p.Pro22= Single submitter MHC class I deficiency
- p.Pro249= Single submitter MHC class I deficiency
- p.Pro292= Single submitter MHC class I deficiency
- p.Pro311= Single submitter MHC class I deficiency
- p.Pro390= Single submitter MHC class I deficiency
- p.Pro51Gln Single submitter
- p.Pro54= Single submitter MHC class I deficiency
- p.Pro55= Single submitter MHC class I deficiency
- p.Pro56= Single submitter MHC class I deficiency
- p.Pro71= Single submitter MHC class I deficiency
- p.Ser3= Single submitter MHC class I deficiency
- p.Ser323= Single submitter MHC class I deficiency
- p.Ser350= Single submitter MHC class I deficiency
- p.Ser363= Single submitter MHC class I deficiency
- p.Ser388= Single submitter MHC class I deficiency
- p.Ser395= Single submitter MHC class I deficiency
- p.Ser409= Single submitter MHC class I deficiency
- p.Ser94= Single submitter MHC class I deficiency
- p.Thr153= Single submitter MHC class I deficiency
- p.Thr160= Single submitter MHC class I deficiency
- p.Thr165= Single submitter MHC class I deficiency
- p.Thr268= Single submitter MHC class I deficiency
- p.Tyr380= Single submitter MHC class I deficiency
- p.Val97= Single submitter MHC class I deficiency
- p.Ala11= No assertion criteria TAPBP-related disorder
- p.Leu296= No assertion criteria TAPBP-related disorder
Uncertain significance 225
- p.Ala191Thr Multiple submitters MHC class I deficiency ⚠
- p.Ala220Val Multiple submitters MHC class I deficiency ⚠
- p.Ala305Ser Multiple submitters MHC class I deficiency ⚠
- p.Ala305Thr Multiple submitters MHC class I deficiency ⚠
- p.Ala309Glu Multiple submitters MHC class I deficiency ⚠
- p.Ala396Thr Multiple submitters MHC class I deficiency ⚠
- p.Ala433Thr Multiple submitters MHC class I deficiency ⚠
- p.Arg208Cys Multiple submitters MHC class I deficiency ⚠
- p.Arg303Gln Multiple submitters MHC class I deficiency ⚠
- p.Arg333Trp Multiple submitters MHC class I deficiency ⚠
- p.Arg339His Multiple submitters MHC class I deficiency ⚠
- p.Arg353His Multiple submitters MHC class I deficiency ⚠
- p.Arg379Cys Multiple submitters MHC class I deficiency ⚠
- p.Arg379Gly Multiple submitters MHC class I deficiency ⚠
- p.Arg383Gln Multiple submitters MHC class I deficiency ⚠
- p.Arg394Cys Multiple submitters MHC class I deficiency ⚠
- p.Asn114Lys Multiple submitters MHC class I deficiency ⚠
- p.Asn253Ser Multiple submitters MHC class I deficiency ⚠
- p.Cys115Ser Multiple submitters MHC class I deficiency ⚠
- p.Glu63Asp Multiple submitters MHC class I deficiency ⚠
- p.Gly325Asp Multiple submitters MHC class I deficiency ⚠
- p.Gly325Val Multiple submitters MHC class I deficiency ⚠
- p.His90Arg Multiple submitters MHC class I deficiency ⚠
- p.Ile25Val Multiple submitters MHC class I deficiency ⚠
- p.Leu410Pro Multiple submitters MHC class I deficiency ⚠
- p.Leu424His Multiple submitters MHC class I deficiency
- p.Met125Val Multiple submitters MHC class I deficiency ⚠
- p.Pro186Ser Multiple submitters MHC class I deficiency ⚠
- p.Pro201Ser Multiple submitters MHC class I deficiency ⚠
- p.Pro246Leu Multiple submitters MHC class I deficiency ⚠
- p.Pro310Ser Multiple submitters MHC class I deficiency ⚠
- p.Pro368Leu Multiple submitters MHC class I deficiency ⚠
- p.Pro54Leu Multiple submitters MHC class I deficiency ⚠
- p.Pro62Leu Multiple submitters MHC class I deficiency ⚠
- p.Ser3Thr Multiple submitters MHC class I deficiency ⚠
- p.Thr165Asn Multiple submitters MHC class I deficiency ⚠
- p.Thr188Ser Multiple submitters MHC class I deficiency ⚠
- p.Thr399Asn Multiple submitters MHC class I deficiency ⚠
- p.Val126Gly Multiple submitters MHC class I deficiency
- p.Val18Ala Multiple submitters MHC class I deficiency ⚠
- p.Val68Ala Multiple submitters MHC class I deficiency ⚠
- c.1211-6T>A Single submitter MHC class I deficiency
- c.130_470-3608del Single submitter MHC class I deficiency
- c.1300+3_1300+6del Single submitter MHC class I deficiency
- c.1335+4_1335+5del Single submitter MHC class I deficiency
- c.208+1G>C Single submitter MHC class I deficiency
- c.209-3C>T Single submitter MHC class I deficiency
- c.37+1G>A Single submitter MHC class I deficiency
- c.470-1G>T Single submitter
- c.868+1G>A Single submitter MHC class I deficiency
- p.Ala155Gly Single submitter MHC class I deficiency ⚠
- p.Ala167Thr Single submitter MHC class I deficiency ⚠
- p.Ala20Val Single submitter MHC class I deficiency ⚠
- p.Ala219fs Single submitter MHC class I deficiency
- p.Ala219Thr Single submitter ⚠
- p.Ala235Val Single submitter MHC class I deficiency ⚠
- p.Ala23Val Single submitter MHC class I deficiency ⚠
- p.Ala240Val Single submitter MHC class I deficiency ⚠
- p.Ala271Pro Single submitter ⚠
- p.Ala287Thr Single submitter MHC class I deficiency ⚠
- p.Ala33Gly Single submitter MHC class I deficiency ⚠
- p.Ala33Val Single submitter MHC class I deficiency ⚠
- p.Ala343Ser Single submitter ⚠
- p.Ala391Gly Single submitter MHC class I deficiency ⚠
- p.Ala391Val Single submitter MHC class I deficiency ⚠
- p.Ala420Thr Single submitter MHC class I deficiency ⚠
- p.Ala433Gly Single submitter ⚠
- p.Ala434Pro Single submitter ⚠
- p.Ala434Thr Single submitter MHC class I deficiency ⚠
- p.Ala72Gly Single submitter MHC class I deficiency ⚠
- p.Ala72Val Single submitter MHC class I deficiency ⚠
- p.Arg117Trp Single submitter MHC class I deficiency ⚠
- p.Arg169Leu Single submitter MHC class I deficiency ⚠
- p.Arg169Ter Single submitter MHC class I deficiency
- p.Arg207Gln Single submitter MHC class I deficiency ⚠
- p.Arg208Leu Single submitter MHC class I deficiency ⚠
- p.Arg347Ser Single submitter MHC class I deficiency ⚠
- p.Arg353Cys Single submitter MHC class I deficiency ⚠
- p.Arg383Ter Single submitter MHC class I deficiency
- p.Arg394His Single submitter MHC class I deficiency ⚠
- p.Arg48Leu Single submitter MHC class I deficiency ⚠
- p.Arg48Pro Single submitter MHC class I deficiency ⚠
- p.Arg57Trp Single submitter MHC class I deficiency ⚠
- p.Arg81Trp Single submitter MHC class I deficiency ⚠
- p.Arg84Gln Single submitter MHC class I deficiency ⚠
- p.Asp120Gly Single submitter MHC class I deficiency ⚠
- p.Asp243Gly Single submitter MHC class I deficiency ⚠
- p.Asp244del Single submitter MHC class I deficiency
- p.Asp32fs Single submitter MHC class I deficiency
- p.Asp357Asn Single submitter MHC class I deficiency ⚠
- p.Asp357His Single submitter MHC class I deficiency ⚠
- p.Asp59Ala Single submitter MHC class I deficiency ⚠
- p.Cys27Phe Single submitter MHC class I deficiency ⚠
- p.Cys27Ter Single submitter MHC class I deficiency
- p.Cys440fs Single submitter MHC class I deficiency
- p.Gln262Arg Single submitter MHC class I deficiency ⚠
- p.Gln281Glu Single submitter MHC class I deficiency ⚠
- p.Gln76Lys Single submitter MHC class I deficiency ⚠
- p.Glu190fs Single submitter MHC class I deficiency
- p.Glu190Lys Single submitter MHC class I deficiency ⚠
- p.Glu233Ala Single submitter MHC class I deficiency ⚠
- p.Glu245Lys Single submitter MHC class I deficiency ⚠
- p.Glu266Lys Single submitter MHC class I deficiency
- p.Glu308Asp Single submitter ⚠
- p.Glu312Gly Single submitter MHC class I deficiency ⚠
- p.Glu312Leu Single submitter MHC class I deficiency
- p.Glu53Ala Single submitter ⚠
- p.Glu53Lys Single submitter MHC class I deficiency ⚠
- p.Glu92Gly Single submitter MHC class I deficiency ⚠
- p.Gly198Asp Single submitter MHC class I deficiency ⚠
- p.Gly203Val Single submitter MHC class I deficiency ⚠
- p.Gly212Ser Single submitter MHC class I deficiency ⚠
- p.Gly223Arg Single submitter MHC class I deficiency
- p.Gly252Arg Single submitter MHC class I deficiency ⚠
- p.Gly267Asp Single submitter MHC class I deficiency ⚠
- p.Gly267Ser Single submitter MHC class I deficiency ⚠
- p.Gly280Glu Single submitter MHC class I deficiency ⚠
- p.Gly334Asp Single submitter MHC class I deficiency ⚠
- p.Gly337Arg Single submitter MHC class I deficiency ⚠
- p.Gly338Asp Single submitter MHC class I deficiency ⚠
- p.Gly358Ser Single submitter MHC class I deficiency ⚠
- p.Gly393Trp Single submitter ⚠
- p.Gly404Cys Single submitter ⚠
- p.Gly404Ser Single submitter MHC class I deficiency ⚠
- p.Gly43_Leu60delinsAlaGlyProArgProTer Single submitter MHC class I deficiency
- p.Gly431Ala Single submitter MHC class I deficiency ⚠
- p.Gly43Asp Single submitter MHC class I deficiency ⚠
- p.Gly50Glu Single submitter MHC class I deficiency ⚠
- p.Gly52Glu Single submitter ⚠
- p.His274Tyr Single submitter MHC class I deficiency ⚠
- p.His355Tyr Single submitter MHC class I deficiency ⚠
- p.His376Tyr Single submitter MHC class I deficiency ⚠
- p.His69= Single submitter MHC class I deficiency
- p.His69Tyr Single submitter MHC class I deficiency ⚠
- p.Ile128Val Single submitter MHC class I deficiency ⚠
- p.Ile273Met Single submitter MHC class I deficiency ⚠
- p.Leu138His Single submitter MHC class I deficiency ⚠
- p.Leu178Met Single submitter MHC class I deficiency ⚠
- p.Leu180_Ser181insLeu Single submitter MHC class I deficiency
- p.Leu217Val Single submitter MHC class I deficiency ⚠
- p.Leu284Val Single submitter MHC class I deficiency ⚠
- p.Leu349Pro Single submitter MHC class I deficiency ⚠
- p.Leu38Arg Single submitter MHC class I deficiency ⚠
- p.Leu405His Single submitter MHC class I deficiency ⚠
- p.Leu423Pro Single submitter MHC class I deficiency
- p.Leu424Pro Single submitter MHC class I deficiency
- p.Leu46Pro Single submitter MHC class I deficiency ⚠
- p.Leu6Pro Single submitter MHC class I deficiency ⚠
- p.Leu7Phe Single submitter MHC class I deficiency
- p.Lys290Asn Single submitter MHC class I deficiency ⚠
- p.Lys290fs Single submitter MHC class I deficiency
- p.Met125Ile Single submitter MHC class I deficiency ⚠
- p.Met1Ile Single submitter MHC class I deficiency
- p.Met228Ile Single submitter ⚠
- p.Met93Ile Single submitter MHC class I deficiency ⚠
- p.Met93Val Single submitter MHC class I deficiency ⚠
- p.Phe238Leu Single submitter MHC class I deficiency ⚠
- p.Phe427= Single submitter MHC class I deficiency
- p.Phe427Leu Single submitter MHC class I deficiency ⚠
- p.Phe96Ser Single submitter MHC class I deficiency ⚠
- p.Pro141Arg Single submitter MHC class I deficiency ⚠
- p.Pro149His Single submitter MHC class I deficiency ⚠
- p.Pro199Leu Single submitter MHC class I deficiency ⚠
- p.Pro229Ser Single submitter MHC class I deficiency ⚠
- p.Pro259Leu Single submitter MHC class I deficiency ⚠
- p.Pro263Leu Single submitter ⚠
- p.Pro291His Single submitter MHC class I deficiency ⚠
- p.Pro292Leu Single submitter ⚠
- p.Pro311Leu Single submitter MHC class I deficiency ⚠
- p.Pro368Ala Single submitter MHC class I deficiency ⚠
- p.Pro369Ser Single submitter MHC class I deficiency ⚠
- p.Pro370Leu Single submitter ⚠
- p.Pro408Thr Single submitter ⚠
- p.Pro42Leu Single submitter MHC class I deficiency ⚠
- p.Pro55Ser Single submitter MHC class I deficiency ⚠
- p.Pro56_Arg57delinsGly Single submitter MHC class I deficiency
- p.Pro56Ser Single submitter MHC class I deficiency ⚠
- p.Pro58Leu Single submitter MHC class I deficiency ⚠
- p.Pro62Ala Single submitter MHC class I deficiency ⚠
- p.Pro87Arg Single submitter ⚠
- p.Ser127Arg Single submitter MHC class I deficiency ⚠
- p.Ser130Asn Single submitter MHC class I deficiency ⚠
- p.Ser130Ile Single submitter MHC class I deficiency ⚠
- p.Ser134Arg Single submitter MHC class I deficiency ⚠
- p.Ser137Gly Single submitter MHC class I deficiency ⚠
- p.Ser137Thr Single submitter MHC class I deficiency ⚠
- p.Ser19Leu Single submitter ⚠
- p.Ser340Cys Single submitter MHC class I deficiency ⚠
- p.Ser350Leu Single submitter MHC class I deficiency ⚠
- p.Ser361Arg Single submitter MHC class I deficiency ⚠
- p.Ser361Gly Single submitter ⚠
- p.Ser392Leu Single submitter MHC class I deficiency ⚠
- p.Ser395Arg Single submitter MHC class I deficiency ⚠
- p.Ser5Phe Single submitter MHC class I deficiency ⚠
- p.Ter449Gly Single submitter MHC class I deficiency 1
- p.Thr110Ser Single submitter MHC class I deficiency ⚠
- p.Thr153Pro Single submitter MHC class I deficiency ⚠
- p.Thr188Ala Single submitter MHC class I deficiency ⚠
- p.Thr188fs Single submitter MHC class I deficiency
- p.Thr260fs Single submitter MHC class I deficiency
- p.Thr260Gly Single submitter MHC class I deficiency
- p.Trp123Ter Single submitter MHC class I deficiency
- p.Trp250Arg Single submitter MHC class I deficiency ⚠
- p.Trp330Ser Single submitter MHC class I deficiency ⚠
- p.Trp348Ter Single submitter MHC class I deficiency
- p.Trp432fs Single submitter MHC class I deficiency
- p.Tyr184His Single submitter MHC class I deficiency ⚠
- p.Tyr289_Lys290delinsTer Single submitter MHC class I deficiency
- p.Tyr380His Single submitter MHC class I deficiency ⚠
- p.Tyr65Ter Single submitter MHC class I deficiency
- p.Tyr82Cys Single submitter MHC class I deficiency ⚠
- p.Val126Ile Single submitter MHC class I deficiency ⚠
- p.Val150Asp Single submitter MHC class I deficiency ⚠
- p.Val157= Single submitter MHC class I deficiency
- p.Val161Ile Single submitter MHC class I deficiency ⚠
- p.Val236Leu Single submitter MHC class I deficiency ⚠
- p.Val236Met Single submitter MHC class I deficiency ⚠
- p.Val24Ala Single submitter MHC class I deficiency ⚠
- p.Val282fs Single submitter MHC class I deficiency
- p.Val282Phe Single submitter MHC class I deficiency ⚠
- p.Val294fs Single submitter MHC class I deficiency
- p.Val317Met Single submitter MHC class I deficiency ⚠
- p.Val414Ile Single submitter MHC class I deficiency ⚠
- p.Val435Ile Single submitter ⚠
- p.Val97Leu Single submitter MHC class I deficiency ⚠