TAP1 — 464 ClinVar variants
All ClinVar germline TAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 126 flagged for review →
22 Pathogenic · 3 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 10 Conflicting · 8 Benign · 18 Benign/Likely benign · 187 Likely benign · 210 Uncertain significance
Full TAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 126
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 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TAP1 p.Ala121Val
Conflicting
Single submitter
MHC class I deficiency
-
TAP1 p.Ala95Val
Conflicting
Single submitter
MHC class I deficiency
-
TAP1 p.Arg270His
Conflicting
Single submitter
MHC class I deficiency
-
TAP1 p.Ile368Thr
Conflicting
Single submitter
MHC class I deficiency
Predictors lean, ClinVar uncertain 92
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TAP1 c.-20G>C
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TAP1 c.-59C>T
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TAP1 p.Ala101Val
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAP1 p.Ala2Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TAP1 p.Ala59Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TAP1 p.Ala738Val
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAP1 p.Arg129Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TAP1 p.Arg575Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TAP1 p.Asn443Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TAP1 p.Asp507Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TAP1 p.Cys73Gly
Uncertain significance
Multiple submitters
MHC class I deficiency 1
-
TAP1 p.Glu532Lys
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAP1 p.Gly109Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TAP1 p.Gly723Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TAP1 p.His136Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TAP1 p.His711Asp
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAP1 p.Leu595Val
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAP1 p.Met202Arg
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAP1 p.Met452Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TAP1 p.Met609Val
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAP1 p.Pro747Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TAP1 p.Pro7Ser
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAP1 p.Ser4Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TAP1 p.Ser594Arg
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAP1 p.Ser693Thr
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAP1 c.-27C>T
Uncertain significance
Single submitter
Inborn genetic diseases
-
TAP1 c.-39C>T
Uncertain significance
Single submitter
Inborn genetic diseases
-
TAP1 c.-53G>C
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 c.-60C>G
Uncertain significance
Single submitter
Inborn genetic diseases
- TAP1 c.-90G>A Uncertain significance Single submitter
-
TAP1 p.Ala100Ser
Uncertain significance
Single submitter
MHC class I deficiency
- TAP1 p.Ala21Pro Uncertain significance Single submitter
-
TAP1 p.Ala237Asp
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Ala2Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TAP1 p.Ala370Asp
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Ala39Ser
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Ala51Val
Uncertain significance
Single submitter
MHC class I deficiency
- TAP1 p.Ala59Val Uncertain significance Single submitter
-
TAP1 p.Ala639Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TAP1 p.Ala719Thr
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Ala72Thr
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Ala95Thr
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Arg210His
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Arg30Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TAP1 p.Arg37Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
TAP1 p.Arg37Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TAP1 p.Arg487His
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Arg529Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TAP1 p.Arg529His
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Cys662Arg
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Cys662Tyr
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Gln432Lys
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Gln571Arg
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Gln605Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TAP1 p.Gln683Lys
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Glu115Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TAP1 p.Glu396Lys
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Gly164Ser
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Gly170Arg
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Gly178Ser
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Gly200Glu
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Gly323Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TAP1 p.Gly430Asp Uncertain significance Single submitter
-
TAP1 p.Gly538Glu
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Gly723Arg
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.His132Asn
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Ile204Ser
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Ile319Leu
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Ile43Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TAP1 p.Leu180Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TAP1 p.Leu199Val Uncertain significance Single submitter
-
TAP1 p.Leu20Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
TAP1 p.Leu422Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
TAP1 p.Leu519Ser
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Lys343Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TAP1 p.Lys618Glu
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Met285Thr
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Met320Lys
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Pro122Ala
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Pro137Arg
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Pro172Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TAP1 p.Pro9His
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Ser182Pro
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Ser296Arg
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Ser326Tyr
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Ser688Gly
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Thr294Ile
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Thr613Ile
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Tyr349His
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Val256Met
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Val590Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TAP1 p.Val80Ala
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 30
The independent predictors disagree with each other — read with care.
-
TAP1 p.Arg378Gln
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAP1 p.Arg484His
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAP1 p.Arg655Gln
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAP1 p.Arg659Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TAP1 p.Gly646Ala
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAP1 p.Leu673Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TAP1 p.Ser372Leu
Uncertain significance
Multiple submitters
MHC class I deficiency
-
TAP1 p.Ala407Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TAP1 p.Ala535Val
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Ala616Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TAP1 p.Ala652Val
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Arg312Gln
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Arg659Gln
Conflicting
Single submitter
MHC class I deficiency
-
TAP1 p.Gln365His
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Glu587Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TAP1 p.Gly523Arg
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Gly602Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TAP1 p.Gly631Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TAP1 p.Gly631Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TAP1 p.Gly640Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TAP1 p.Gly646Val
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Met374Leu
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Phe714Leu
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Pro486Leu
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Pro539His
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Ser379Thr
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Thr292Met
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Tyr249Cys
Conflicting
Single submitter
MHC class I deficiency
-
TAP1 p.Tyr512Cys
Uncertain significance
Single submitter
MHC class I deficiency
-
TAP1 p.Tyr576Cys
Uncertain significance
Single submitter
MHC class I deficiency
All TAP1 variants
Pathogenic 22
- p.Arg378Ter Multiple submitters MHC class I deficiency 1
- p.Arg226Ter Single submitter MHC class I deficiency
- p.Arg312Ter Single submitter MHC class I deficiency
- p.Gln561fs Single submitter MHC class I deficiency
- p.Gln580Ter Single submitter MHC class I deficiency
- p.Gln605Ter Single submitter MHC class I deficiency
- p.Gln649Ter Single submitter MHC class I deficiency
- p.Gln90fs Single submitter MHC class I deficiency
- p.Glu597Ter Single submitter MHC class I deficiency
- p.Gly123fs Single submitter MHC class I deficiency
- p.Gly620delinsValGlnTer Single submitter MHC class I deficiency
- p.His622fs Single submitter MHC class I deficiency
- p.Leu112Ter Single submitter MHC class I deficiency
- p.Leu295fs Single submitter MHC class I deficiency
- p.Lys567Ter Single submitter MHC class I deficiency
- p.Ser324Ter Single submitter MHC class I deficiency
- p.Trp308Ter Single submitter MHC class I deficiency
- p.Trp65Ter Single submitter MHC class I deficiency
- p.Tyr349Ter Single submitter MHC class I deficiency
- p.Val406fs Single submitter MHC class I deficiency
- c.599-1G>A No assertion criteria MHC class I deficiency
- p.His702fs No assertion criteria MHC class I deficiency
Pathogenic/Likely pathogenic 3
- c.-46_-45delinsAT Multiple submitters MHC class I deficiency
- p.Gln522Ter Multiple submitters TAP1-related disorder
- p.Pro336fs Multiple submitters TAP1-related disorder
Likely pathogenic 6
- c.1740+2T>C Single submitter MHC class I deficiency
- p.Arg655Ter Single submitter MHC class I deficiency 1
- p.Gly323fs Single submitter TAP1-related disorder
- p.Leu666fs Single submitter MHC class I deficiency 1
- p.Trp133Ter Single submitter TAP1-related disorder
- p.Trp92fs Single submitter TAP1-related disorder
Conflicting classifications of pathogenicity 10
- c.2040+6G>A Single submitter MHC class I deficiency
- p.Ala121Val Single submitter MHC class I deficiency ⚠
- p.Ala95Val Single submitter MHC class I deficiency ⚠
- p.Arg270His Single submitter MHC class I deficiency ⚠
- p.Arg357Gln Single submitter MHC class I deficiency
- p.Arg659Gln Single submitter MHC class I deficiency ⚠
- p.Gly646Asp Single submitter MHC class I deficiency
- p.Ile368Thr Single submitter MHC class I deficiency ⚠
- p.Leu110Val Single submitter MHC class I deficiency
- p.Tyr249Cys Single submitter MHC class I deficiency ⚠
Benign 8
- c.2041-14A>C Multiple submitters MHC class I deficiency
- c.598+17G>T Multiple submitters MHC class I deficiency
- c.-34G>A Multiple submitters MHC class I deficiency
- p.Ala146= Multiple submitters MHC class I deficiency
- p.Gly254= Multiple submitters MHC class I deficiency
- p.Pro661= Multiple submitters MHC class I deficiency
- p.Val141= Multiple submitters MHC class I deficiency
- c.714-16dup Single submitter MHC class I deficiency
Benign/Likely benign 18
- c.1051-3C>T Multiple submitters MHC class I deficiency
- c.2041-15G>A Multiple submitters MHC class I deficiency
- c.-20G>A Multiple submitters MHC class I deficiency
- p.Ala146Val Multiple submitters MHC class I deficiency
- p.Ala370Val Multiple submitters MHC class I deficiency
- p.Ala652= Multiple submitters MHC class I deficiency
- p.Arg487= Multiple submitters MHC class I deficiency
- p.Arg648Gln Multiple submitters MHC class I deficiency
- p.Asp637Gly Multiple submitters MHC class I deficiency
- p.Gln728Lys Multiple submitters MHC class I deficiency
- p.Gly17Arg Multiple submitters MHC class I deficiency
- p.Gly419Cys Multiple submitters MHC class I deficiency
- p.His155= Multiple submitters MHC class I deficiency
- p.Ile333Val Multiple submitters MHC class I deficiency
- p.Ser286Phe Multiple submitters MHC class I deficiency
- p.Val244Leu Multiple submitters MHC class I deficiency
- p.Val458Leu Multiple submitters MHC class I deficiency
- p.Val518Ile Multiple submitters MHC class I deficiency
Likely benign 187
- c.1378-15C>T Multiple submitters MHC class I deficiency
- c.1567-17G>A Multiple submitters MHC class I deficiency
- c.1903+18C>G Multiple submitters MHC class I deficiency
- c.2041-20G>A Multiple submitters MHC class I deficiency
- c.713+18G>T Multiple submitters MHC class I deficiency
- p.Gly718= Multiple submitters MHC class I deficiency
- p.Ile665= Multiple submitters MHC class I deficiency
- p.Leu131Pro Multiple submitters MHC class I deficiency
- p.Leu643= Multiple submitters MHC class I deficiency
- p.Leu729= Multiple submitters MHC class I deficiency
- p.Pro149= Multiple submitters MHC class I deficiency
- p.Pro516Leu Multiple submitters MHC class I deficiency
- p.Ser293= Multiple submitters MHC class I deficiency
- p.Thr184= Multiple submitters MHC class I deficiency
- p.Thr184Met Multiple submitters Inborn genetic diseases
- p.Thr273= Multiple submitters MHC class I deficiency
- p.Thr534= Multiple submitters MHC class I deficiency
- p.Thr558= Multiple submitters MHC class I deficiency
- p.Tyr692= Multiple submitters MHC class I deficiency
- p.Val162Met Multiple submitters MHC class I deficiency
- c.1050+15T>C Single submitter MHC class I deficiency
- c.1050+9A>G Single submitter MHC class I deficiency
- c.1051-11T>C Single submitter MHC class I deficiency
- c.1051-13C>A Single submitter MHC class I deficiency
- c.1051-7T>C Single submitter MHC class I deficiency
- c.1248+10T>G Single submitter MHC class I deficiency
- c.1248+9C>A Single submitter MHC class I deficiency
- c.1249-17T>C Single submitter MHC class I deficiency
- c.1249-5T>G Single submitter MHC class I deficiency
- c.1377+13C>T Single submitter MHC class I deficiency
- c.1377+16C>T Single submitter MHC class I deficiency
- c.1377+20A>G Single submitter MHC class I deficiency
- c.1378-15C>A Single submitter MHC class I deficiency
- c.1378-4C>G Single submitter MHC class I deficiency
- c.1378-4C>T Single submitter MHC class I deficiency
- c.1566+14C>G Single submitter MHC class I deficiency
- c.1567-13C>G Single submitter MHC class I deficiency
- c.1740+17C>A Single submitter MHC class I deficiency
- c.1740+8dup Single submitter MHC class I deficiency
- c.1741-15_1741-13del Single submitter MHC class I deficiency
- c.1741-4T>G Single submitter MHC class I deficiency
- c.1903+12A>G Single submitter MHC class I deficiency
- c.1903+19del Single submitter MHC class I deficiency
- c.1904-14C>T Single submitter MHC class I deficiency
- c.2040+11C>T Single submitter MHC class I deficiency
- c.2040+17C>T Single submitter MHC class I deficiency
- c.2041-10C>G Single submitter MHC class I deficiency
- c.2041-13T>C Single submitter MHC class I deficiency
- c.2041-15G>C Single submitter MHC class I deficiency
- c.2041-16C>T Single submitter MHC class I deficiency
- c.2041-20G>T Single submitter MHC class I deficiency
- c.598+12G>T Single submitter MHC class I deficiency
- c.599-11T>C Single submitter MHC class I deficiency
- c.599-15C>T Single submitter MHC class I deficiency
- c.599-17C>T Single submitter MHC class I deficiency
- c.599-19C>T Single submitter MHC class I deficiency
- c.713+9G>C Single submitter MHC class I deficiency
- c.714-11G>T Single submitter MHC class I deficiency
- c.714-14C>T Single submitter MHC class I deficiency
- c.714-9del Single submitter MHC class I deficiency
- c.844+9T>C Single submitter MHC class I deficiency
- c.845-12C>T Single submitter MHC class I deficiency
- c.845-7C>A Single submitter MHC class I deficiency
- c.845-7C>T Single submitter MHC class I deficiency
- c.-16C>T Single submitter MHC class I deficiency
- c.-25G>T Single submitter MHC class I deficiency
- c.-46G>A Single submitter MHC class I deficiency
- c.-9C>A Single submitter
- c.*76A>C Single submitter
- p.Ala106= Single submitter MHC class I deficiency
- p.Ala111= Single submitter MHC class I deficiency
- p.Ala121= Single submitter MHC class I deficiency
- p.Ala203= Single submitter MHC class I deficiency
- p.Ala221= Single submitter MHC class I deficiency
- p.Ala239= Single submitter MHC class I deficiency
- p.Ala31= Single submitter MHC class I deficiency
- p.Ala367= Single submitter MHC class I deficiency
- p.Ala582= Single submitter MHC class I deficiency
- p.Ala600= Single submitter MHC class I deficiency
- p.Ala654= Single submitter MHC class I deficiency
- p.Ala656= Single submitter MHC class I deficiency
- p.Ala89Val Single submitter Inborn genetic diseases
- p.Ala94= Single submitter MHC class I deficiency
- p.Arg10= Single submitter MHC class I deficiency
- p.Arg129= Single submitter MHC class I deficiency
- p.Arg186= Single submitter MHC class I deficiency
- p.Arg270= Single submitter MHC class I deficiency
- p.Arg287= Single submitter MHC class I deficiency
- p.Arg5= Single submitter MHC class I deficiency
- p.Arg691Gln Single submitter MHC class I deficiency
- p.Asn171= Single submitter MHC class I deficiency
- p.Asn382= Single submitter MHC class I deficiency
- p.Asp213= Single submitter MHC class I deficiency
- p.Asp246= Single submitter MHC class I deficiency
- p.Asp297= Single submitter MHC class I deficiency
- p.Asp637= Single submitter MHC class I deficiency
- p.Gln506= Single submitter MHC class I deficiency
- p.Gln571= Single submitter MHC class I deficiency
- p.Gln596Arg Single submitter Inborn genetic diseases
- p.Glu242= Single submitter MHC class I deficiency
- p.Glu707= Single submitter MHC class I deficiency
- p.Gly123= Single submitter MHC class I deficiency
- p.Gly167= Single submitter MHC class I deficiency
- p.Gly219= Single submitter MHC class I deficiency
- p.Gly385= Single submitter MHC class I deficiency
- p.Gly437= Single submitter MHC class I deficiency
- p.Gly492= Single submitter MHC class I deficiency
- p.Gly501= Single submitter MHC class I deficiency
- p.Gly531= Single submitter MHC class I deficiency
- p.Gly559= Single submitter MHC class I deficiency
- p.Gly646= Single submitter MHC class I deficiency
- p.Gly81= Single submitter MHC class I deficiency
- p.His136= Single submitter MHC class I deficiency
- p.His259= Single submitter MHC class I deficiency
- p.His622= Single submitter MHC class I deficiency
- p.Ile426= Single submitter MHC class I deficiency
- p.Ile464Val Single submitter Inborn genetic diseases
- p.Ile612= Single submitter MHC class I deficiency
- p.Leu15= Single submitter MHC class I deficiency
- p.Leu153= Single submitter MHC class I deficiency
- p.Leu157= Single submitter MHC class I deficiency
- p.Leu189= Single submitter
- p.Leu191= Single submitter MHC class I deficiency
- p.Leu196= Single submitter MHC class I deficiency
- p.Leu216= Single submitter MHC class I deficiency
- p.Leu230= Single submitter MHC class I deficiency
- p.Leu241= Single submitter MHC class I deficiency
- p.Leu28= Single submitter MHC class I deficiency
- p.Leu29= Single submitter MHC class I deficiency
- p.Leu295= Single submitter MHC class I deficiency
- p.Leu30= Single submitter MHC class I deficiency
- p.Leu314= Single submitter MHC class I deficiency
- p.Leu327= Single submitter MHC class I deficiency
- p.Leu335= Single submitter MHC class I deficiency
- p.Leu337= Single submitter MHC class I deficiency
- p.Leu341= Single submitter MHC class I deficiency
- p.Leu352= Single submitter MHC class I deficiency
- p.Leu394= Single submitter MHC class I deficiency
- p.Leu400= Single submitter MHC class I deficiency
- p.Leu461= Single submitter MHC class I deficiency
- p.Leu462= Single submitter MHC class I deficiency
- p.Leu521= Single submitter MHC class I deficiency
- p.Leu54= Single submitter MHC class I deficiency
- p.Leu554= Single submitter MHC class I deficiency
- p.Leu563= Single submitter MHC class I deficiency
- p.Leu564= Single submitter MHC class I deficiency
- p.Leu62= Single submitter MHC class I deficiency
- p.Leu698= Single submitter MHC class I deficiency
- p.Leu705= Single submitter MHC class I deficiency
- p.Leu713= Single submitter MHC class I deficiency
- p.Leu715= Single submitter MHC class I deficiency
- p.Lys389= Single submitter MHC class I deficiency
- p.Lys97= Single submitter MHC class I deficiency
- p.Phe243= Single submitter MHC class I deficiency
- p.Pro108= Single submitter MHC class I deficiency
- p.Pro16= Single submitter MHC class I deficiency
- p.Pro205= Single submitter MHC class I deficiency
- p.Pro466= Single submitter MHC class I deficiency
- p.Pro489= Single submitter MHC class I deficiency
- p.Pro496= Single submitter MHC class I deficiency
- p.Pro53= Single submitter MHC class I deficiency
- p.Pro570= Single submitter MHC class I deficiency
- p.Pro9= Single submitter MHC class I deficiency
- p.Pro98= Single submitter MHC class I deficiency
- p.Ser118= Single submitter MHC class I deficiency
- p.Ser188= Single submitter MHC class I deficiency
- p.Ser364= Single submitter MHC class I deficiency
- p.Ser644= Single submitter MHC class I deficiency
- p.Thr128= Single submitter MHC class I deficiency
- p.Thr208= Single submitter MHC class I deficiency
- p.Thr292= Single submitter MHC class I deficiency
- p.Thr331= Single submitter MHC class I deficiency
- p.Thr435= Single submitter MHC class I deficiency
- p.Thr446= Single submitter MHC class I deficiency
- p.Thr455= Single submitter MHC class I deficiency
- p.Thr485= Single submitter MHC class I deficiency
- p.Thr50= Single submitter MHC class I deficiency
- p.Thr527= Single submitter MHC class I deficiency
- p.Thr604= Single submitter MHC class I deficiency
- p.Tyr309= Single submitter MHC class I deficiency
- p.Tyr408= Single submitter MHC class I deficiency
- p.Tyr555= Single submitter MHC class I deficiency
- p.Tyr686= Single submitter MHC class I deficiency
- p.Val142= Single submitter MHC class I deficiency
- p.Val330= Single submitter MHC class I deficiency
- p.Val458= Single submitter MHC class I deficiency
- p.Val590= Single submitter MHC class I deficiency
Uncertain significance 210
- c.-20G>C Multiple submitters Inborn genetic diseases ⚠
- c.-59C>T Multiple submitters Inborn genetic diseases ⚠
- p.Ala101Val Multiple submitters MHC class I deficiency ⚠
- p.Ala2Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala59Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala738Val Multiple submitters MHC class I deficiency ⚠
- p.Ala742Pro Multiple submitters Inborn genetic diseases
- p.Arg129Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg378Gln Multiple submitters MHC class I deficiency ⚠
- p.Arg484His Multiple submitters MHC class I deficiency ⚠
- p.Arg515Cys Multiple submitters MHC class I deficiency
- p.Arg575Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg655Gln Multiple submitters MHC class I deficiency ⚠
- p.Arg659Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg691Trp Multiple submitters MHC class I deficiency
- p.Asn401Lys Multiple submitters Inborn genetic diseases
- p.Asn443Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asp507Asn Multiple submitters Inborn genetic diseases ⚠
- p.Cys73Gly Multiple submitters MHC class I deficiency 1 ⚠
- p.Gln261Pro Multiple submitters MHC class I deficiency
- p.Glu532Lys Multiple submitters MHC class I deficiency ⚠
- p.Gly109Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly247Arg Multiple submitters MHC class I deficiency
- p.Gly419Ser Multiple submitters Inborn genetic diseases
- p.Gly646Ala Multiple submitters MHC class I deficiency ⚠
- p.Gly723Trp Multiple submitters Inborn genetic diseases ⚠
- p.His136Asn Multiple submitters Inborn genetic diseases ⚠
- p.His711Asp Multiple submitters MHC class I deficiency ⚠
- p.Leu30Pro Multiple submitters Inborn genetic diseases
- p.Leu595Val Multiple submitters MHC class I deficiency ⚠
- p.Leu653Met Multiple submitters Inborn genetic diseases
- p.Leu673Met Multiple submitters Inborn genetic diseases ⚠
- p.Met202Arg Multiple submitters MHC class I deficiency ⚠
- p.Met452Val Multiple submitters Inborn genetic diseases ⚠
- p.Met609Val Multiple submitters MHC class I deficiency ⚠
- p.Pro747Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro7Ser Multiple submitters MHC class I deficiency ⚠
- p.Ser372Leu Multiple submitters MHC class I deficiency ⚠
- p.Ser4Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser594Arg Multiple submitters MHC class I deficiency ⚠
- p.Ser693Thr Multiple submitters MHC class I deficiency ⚠
- p.Thr235Ser Multiple submitters MHC class I deficiency
- p.Val503Phe Multiple submitters MHC class I deficiency
- c.1377+5G>C Single submitter MHC class I deficiency
- c.1566+5A>G Single submitter MHC class I deficiency
- c.1903+4C>A Single submitter MHC class I deficiency
- c.714-3T>C Single submitter MHC class I deficiency
- c.844+4T>C Single submitter MHC class I deficiency
- c.845-9A>G Single submitter MHC class I deficiency
- c.92G>T Single submitter Inborn genetic diseases
- c.-27C>T Single submitter Inborn genetic diseases ⚠
- c.-39C>T Single submitter Inborn genetic diseases ⚠
- c.-53G>C Single submitter MHC class I deficiency ⚠
- c.-60C>G Single submitter Inborn genetic diseases ⚠
- c.-90G>A Single submitter ⚠
- p.Ala100Ser Single submitter MHC class I deficiency ⚠
- p.Ala106_Leu112dup Single submitter MHC class I deficiency
- p.Ala21Pro Single submitter ⚠
- p.Ala237Asp Single submitter MHC class I deficiency ⚠
- p.Ala2Gly Single submitter Inborn genetic diseases ⚠
- p.Ala370Asp Single submitter MHC class I deficiency ⚠
- p.Ala370Ser Single submitter MHC class I deficiency
- p.Ala39Ser Single submitter MHC class I deficiency ⚠
- p.Ala407Gly Single submitter Inborn genetic diseases ⚠
- p.Ala51Val Single submitter MHC class I deficiency ⚠
- p.Ala535Val Single submitter MHC class I deficiency ⚠
- p.Ala583Thr Single submitter Inborn genetic diseases
- p.Ala59Val Single submitter ⚠
- p.Ala600Ser Single submitter Inborn genetic diseases
- p.Ala616Thr Single submitter Inborn genetic diseases ⚠
- p.Ala639Val Single submitter Inborn genetic diseases ⚠
- p.Ala652Val Single submitter MHC class I deficiency ⚠
- p.Ala719Thr Single submitter MHC class I deficiency ⚠
- p.Ala72Thr Single submitter MHC class I deficiency ⚠
- p.Ala95Thr Single submitter MHC class I deficiency ⚠
- p.Arg185Pro Single submitter MHC class I deficiency
- p.Arg210His Single submitter MHC class I deficiency ⚠
- p.Arg226Leu Single submitter Inborn genetic diseases
- p.Arg270Cys Single submitter MHC class I deficiency
- p.Arg30Lys Single submitter Inborn genetic diseases ⚠
- p.Arg312Gln Single submitter MHC class I deficiency ⚠
- p.Arg357Trp Single submitter MHC class I deficiency
- p.Arg37Pro Single submitter Inborn genetic diseases ⚠
- p.Arg37Trp Single submitter Inborn genetic diseases ⚠
- p.Arg487His Single submitter MHC class I deficiency ⚠
- p.Arg529Cys Single submitter Inborn genetic diseases ⚠
- p.Arg529His Single submitter MHC class I deficiency ⚠
- p.Arg655Gly Single submitter Inborn genetic diseases
- p.Arg691Pro Single submitter MHC class I deficiency
- p.Arg694Cys Single submitter MHC class I deficiency
- p.Arg694His Single submitter MHC class I deficiency
- p.Asp222His Single submitter MHC class I deficiency
- p.Asp222Tyr Single submitter MHC class I deficiency
- p.Cys662Arg Single submitter MHC class I deficiency ⚠
- p.Cys662Tyr Single submitter MHC class I deficiency ⚠
- p.Gln365His Single submitter MHC class I deficiency ⚠
- p.Gln432Lys Single submitter MHC class I deficiency ⚠
- p.Gln571Arg Single submitter MHC class I deficiency ⚠
- p.Gln605Arg Single submitter Inborn genetic diseases ⚠
- p.Gln683Lys Single submitter MHC class I deficiency ⚠
- p.Gln683Ter Single submitter MHC class I deficiency
- p.Glu115Val Single submitter Inborn genetic diseases ⚠
- p.Glu183Gln Single submitter Inborn genetic diseases
- p.Glu383Lys Single submitter MHC class I deficiency
- p.Glu386Lys Single submitter MHC class I deficiency
- p.Glu396Lys Single submitter MHC class I deficiency ⚠
- p.Glu587Ala Single submitter Inborn genetic diseases ⚠
- p.Gly104Ala Single submitter Inborn genetic diseases
- p.Gly104Cys Single submitter MHC class I deficiency
- p.Gly11Val Single submitter MHC class I deficiency
- p.Gly164Ser Single submitter MHC class I deficiency ⚠
- p.Gly170Arg Single submitter MHC class I deficiency ⚠
- p.Gly178Ser Single submitter MHC class I deficiency ⚠
- p.Gly200Glu Single submitter MHC class I deficiency ⚠
- p.Gly247Glu Single submitter MHC class I deficiency
- p.Gly247Trp Single submitter MHC class I deficiency
- p.Gly318Arg Single submitter MHC class I deficiency
- p.Gly318Trp Single submitter MHC class I deficiency
- p.Gly323Val Single submitter Inborn genetic diseases ⚠
- p.Gly346Arg Single submitter MHC class I deficiency
- p.Gly419Asp Single submitter Inborn genetic diseases
- p.Gly430Asp Single submitter ⚠
- p.Gly523Arg Single submitter MHC class I deficiency ⚠
- p.Gly538Glu Single submitter MHC class I deficiency ⚠
- p.Gly543Arg Single submitter Inborn genetic diseases
- p.Gly559Val Single submitter MHC class I deficiency
- p.Gly585Arg Single submitter MHC class I deficiency
- p.Gly602Ser Single submitter Inborn genetic diseases ⚠
- p.Gly631Ser Single submitter Inborn genetic diseases ⚠
- p.Gly631Val Single submitter Inborn genetic diseases ⚠
- p.Gly640Arg Single submitter Inborn genetic diseases ⚠
- p.Gly646Val Single submitter MHC class I deficiency ⚠
- p.Gly717Ter Single submitter MHC class I deficiency 1
- p.Gly723Arg Single submitter MHC class I deficiency ⚠
- p.Gly81Val Single submitter MHC class I deficiency
- p.His132Asn Single submitter MHC class I deficiency ⚠
- p.His574Gln Single submitter MHC class I deficiency
- p.Ile204Met Single submitter MHC class I deficiency
- p.Ile204Ser Single submitter MHC class I deficiency ⚠
- p.Ile204Val Single submitter MHC class I deficiency
- p.Ile319Leu Single submitter MHC class I deficiency ⚠
- p.Ile417Thr Single submitter MHC class I deficiency
- p.Ile43Val Single submitter Inborn genetic diseases ⚠
- p.Ile625Val Single submitter MHC class I deficiency
- p.Ile699Val Single submitter MHC class I deficiency
- p.Leu131Met Single submitter Inborn genetic diseases
- p.Leu160_Trp161delinsArg Single submitter MHC class I deficiency
- p.Leu180Val Single submitter Inborn genetic diseases ⚠
- p.Leu199Val Single submitter ⚠
- p.Leu20Phe Single submitter Inborn genetic diseases ⚠
- p.Leu230Pro Single submitter MHC class I deficiency
- p.Leu269Val Single submitter MHC class I deficiency
- p.Leu422Pro Single submitter Inborn genetic diseases ⚠
- p.Leu519Ser Single submitter MHC class I deficiency ⚠
- p.Leu528Val Single submitter MHC class I deficiency
- p.Leu715Arg Single submitter MHC class I deficiency
- p.Lys343Arg Single submitter Inborn genetic diseases ⚠
- p.Lys403del Single submitter MHC class I deficiency
- p.Lys618Glu Single submitter MHC class I deficiency ⚠
- p.Met253Val Single submitter MHC class I deficiency
- p.Met285Thr Single submitter MHC class I deficiency ⚠
- p.Met320Lys Single submitter MHC class I deficiency ⚠
- p.Met374Leu Single submitter MHC class I deficiency ⚠
- p.Met739Val Single submitter Inborn genetic diseases
- p.Phe113Ser Single submitter Inborn genetic diseases
- p.Phe591Ser Single submitter MHC class I deficiency
- p.Phe714Leu Single submitter MHC class I deficiency ⚠
- p.Pro122Ala Single submitter MHC class I deficiency ⚠
- p.Pro137Arg Single submitter MHC class I deficiency ⚠
- p.Pro172Arg Single submitter Inborn genetic diseases ⚠
- p.Pro336Ser Single submitter Inborn genetic diseases
- p.Pro41Ser Single submitter Inborn genetic diseases
- p.Pro486Leu Single submitter MHC class I deficiency ⚠
- p.Pro539His Single submitter MHC class I deficiency ⚠
- p.Pro661Ser Single submitter MHC class I deficiency
- p.Pro689Leu Single submitter MHC class I deficiency
- p.Pro9His Single submitter MHC class I deficiency ⚠
- p.Ser182Pro Single submitter MHC class I deficiency ⚠
- p.Ser258Arg Single submitter MHC class I deficiency
- p.Ser296Arg Single submitter MHC class I deficiency ⚠
- p.Ser296Asn Single submitter MHC class I deficiency
- p.Ser326Tyr Single submitter MHC class I deficiency ⚠
- p.Ser379Thr Single submitter MHC class I deficiency ⚠
- p.Ser416= Single submitter MHC class I deficiency
- p.Ser440Thr Single submitter MHC class I deficiency
- p.Ser688Gly Single submitter MHC class I deficiency ⚠
- p.Thr252Pro Single submitter Inborn genetic diseases
- p.Thr273Met Single submitter Inborn genetic diseases
- p.Thr292Met Single submitter MHC class I deficiency ⚠
- p.Thr294Ile Single submitter MHC class I deficiency ⚠
- p.Thr415Ala Single submitter Inborn genetic diseases
- p.Thr527Ile Single submitter MHC class I deficiency
- p.Thr534Met Single submitter MHC class I deficiency
- p.Thr613Ile Single submitter MHC class I deficiency ⚠
- p.Trp92Cys Single submitter Inborn genetic diseases
- p.Trp92Gly Single submitter Inborn genetic diseases
- p.Tyr349His Single submitter MHC class I deficiency ⚠
- p.Tyr512Cys Single submitter MHC class I deficiency ⚠
- p.Tyr572His Single submitter Inborn genetic diseases
- p.Tyr576Cys Single submitter MHC class I deficiency ⚠
- p.Val256Met Single submitter MHC class I deficiency ⚠
- p.Val356Met Single submitter Inborn genetic diseases
- p.Val460Ile Single submitter Inborn genetic diseases
- p.Val472Met Single submitter MHC class I deficiency
- p.Val48Gly Single submitter Inborn genetic diseases
- p.Val533Leu Single submitter MHC class I deficiency
- p.Val590Ile Single submitter Inborn genetic diseases ⚠
- p.Val636Ile Single submitter Inborn genetic diseases
- p.Val740Ala Single submitter MHC class I deficiency
- p.Val80Ala Single submitter Inborn genetic diseases ⚠