RFX5 — 460 ClinVar variants
All ClinVar germline RFX5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 217 flagged for review →
29 Pathogenic · 5 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 12 Conflicting · 4 Benign · 12 Benign/Likely benign · 130 Likely benign · 253 Uncertain significance
Full RFX5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 217
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 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RFX5 p.Asp610Glu
Conflicting
Single submitter
MHC class II deficiency
-
RFX5 p.Gly298Ser
Conflicting
Single submitter
MHC class II deficiency
-
RFX5 p.Gly547Ser
Conflicting
Single submitter
MHC class II deficiency
-
RFX5 p.Ser602Asn
Conflicting
Single submitter
RFX5-related disorder
-
RFX5 p.Thr551Ala
Conflicting
Single submitter
MHC class II deficiency
Predictors lean, ClinVar uncertain 187
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 187
-
RFX5 p.Ala241Val
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Ala441Gly
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Ala462Pro
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Ala528Pro
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Arg128His
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Arg218Trp
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Arg239Gln
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Arg260Gln
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Arg260Trp
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Arg262Gln
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Arg262Gly
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Arg262Trp
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Arg294Gln
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Arg302Gly
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Arg302His
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Arg305Gln
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Arg335Gln
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Arg370Lys
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Gln286Arg
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Gly14Arg
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Gly182Arg
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Gly182Ser
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Gly20Ala
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Gly393Ala
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Gly404Glu
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Gly418Ser
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Gly475Arg
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Gly504Ser
Uncertain significance
Multiple submitters
MHC class II deficiency
- RFX5 p.Gly527Arg Uncertain significance Multiple submitters
-
RFX5 p.Gly591Ser
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.His278Leu
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Ile344Val
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Ile558Thr
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Lys463Glu
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Met172Val
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Pro186Gln
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Pro19Gln
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Pro403Ala
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Ser183Pro
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Ser313Leu
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Ser347Pro
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Ser460Arg
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Ser563Leu
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Ser85Asn
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Thr295Ile
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Thr364Ala
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Thr387Ala
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Thr433Ile
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Thr587Ser
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Val346Asp
Uncertain significance
Multiple submitters
MHC class II deficiency
- RFX5 p.Val561Phe Uncertain significance Multiple submitters
- RFX5 p.Ala17Gly Uncertain significance Single submitter
-
RFX5 p.Ala17Ser
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Ala195Val
Uncertain significance
Single submitter
MHC class II deficiency
- RFX5 p.Ala204Gly Uncertain significance Single submitter
-
RFX5 p.Ala212Gly
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Ala212Val
Uncertain significance
Single submitter
MHC class II deficiency
- RFX5 p.Ala238Val Uncertain significance Single submitter
-
RFX5 p.Ala2Thr
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Ala301Thr
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Ala317Pro
Uncertain significance
Single submitter
MHC class II deficiency
- RFX5 p.Ala324Val Uncertain significance Single submitter
- RFX5 p.Ala352Ser Uncertain significance Single submitter
- RFX5 p.Ala371Gly Uncertain significance Single submitter
- RFX5 p.Ala376Glu Uncertain significance Single submitter
-
RFX5 p.Ala390Gly
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Ala401Thr
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Ala401Val
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Ala434Gly
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Ala441Val
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Ala445Gly
Uncertain significance
Single submitter
MHC class II deficiency
- RFX5 p.Ala445Pro Uncertain significance Single submitter
-
RFX5 p.Ala445Ser
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Ala445Thr
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Ala450Thr
Uncertain significance
Single submitter
MHC class II deficiency
- RFX5 p.Ala554Gly Uncertain significance Single submitter
-
RFX5 p.Ala554Thr
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Arg149Gln
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Arg165Ser
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Arg16Gly
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Arg214Gln
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Arg218Gln
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Arg228His
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Arg228Pro
Uncertain significance
Single submitter
MHC class II deficiency
- RFX5 p.Arg302Leu Uncertain significance Single submitter
- RFX5 p.Arg335Pro Uncertain significance Single submitter
-
RFX5 p.Arg338Cys
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Arg338His
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Arg33Gly
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Arg410Gln
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Arg410Trp
Uncertain significance
Single submitter
MHC class II deficiency
- RFX5 p.Arg415Thr Uncertain significance Single submitter
-
RFX5 p.Arg464Lys
Uncertain significance
Single submitter
RFX5-related disorder
-
RFX5 p.Arg497Thr
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Arg572Lys
Uncertain significance
Single submitter
MHC class II deficiency
- RFX5 p.Arg94Gly Uncertain significance Single submitter
-
RFX5 p.Asn268Ser
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Asn592Ser
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Asn86Asp
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Asp198Asn
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Asp4Asn
Uncertain significance
Single submitter
MHC class II deficiency
- RFX5 p.Asp76Ala Uncertain significance Single submitter
-
RFX5 p.Asp7Glu
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Cys126Ser
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Gln233Arg
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Gln321Arg
Uncertain significance
Single submitter
MHC class II deficiency
- RFX5 p.Gln494Arg Uncertain significance Single submitter
- RFX5 p.Gln601Arg Uncertain significance Single submitter
-
RFX5 p.Glu256Lys
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Glu282Gln
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Glu523Asp
Uncertain significance
Single submitter
RFX5-related disorder
-
RFX5 p.Gly189Val
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Gly276Arg
Uncertain significance
Single submitter
MHC class II deficiency
- RFX5 p.Gly298Arg Uncertain significance Single submitter
-
RFX5 p.Gly36Arg
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Gly372Arg
Uncertain significance
Single submitter
MHC class II deficiency
- RFX5 p.Gly393Arg Uncertain significance Single submitter
-
RFX5 p.Gly393Glu
Uncertain significance
Single submitter
MHC class II deficiency
- RFX5 p.Gly395Val Uncertain significance Single submitter
-
RFX5 p.Gly397Arg
Uncertain significance
Single submitter
MHC class II deficiency
- RFX5 p.Gly411Ser Uncertain significance Single submitter
-
RFX5 p.Gly474Arg
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Gly504Asp
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Gly509Asp
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Gly583Glu
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.His244Asn
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.His426Arg
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.His550Asp
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.His608Arg
Uncertain significance
Single submitter
MHC class II deficiency
- RFX5 p.His608Tyr Uncertain significance Single submitter
-
RFX5 p.Ile384Phe
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Ile419Leu
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Ile455Val
Uncertain significance
Single submitter
MHC class II deficiency
- RFX5 p.Ile96Thr Uncertain significance Single submitter
- RFX5 p.Leu151Pro Uncertain significance Single submitter
-
RFX5 p.Leu216Val
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Leu284Pro
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Leu355Val
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Leu360Pro
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Leu530Val
Uncertain significance
Single submitter
MHC class II deficiency
- RFX5 p.Lys279Arg Uncertain significance Single submitter
-
RFX5 p.Lys428Arg
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Lys472Met
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Lys564Glu
Uncertain significance
Single submitter
MHC class II deficiency
- RFX5 p.Lys569Thr Uncertain significance Single submitter
-
RFX5 p.Lys582Asn
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Lys582Glu
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Pro129Ser
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Pro19Arg
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Pro259Ser
Uncertain significance
Single submitter
MHC class II deficiency
Predictors split 25
The independent predictors disagree with each other — read with care.
-
RFX5 p.Arg128Cys
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Arg466Trp
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Arg468His
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Arg470Gln
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Arg97His
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Lys465Gln
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Met172Ile
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Pro469Leu
Uncertain significance
Multiple submitters
MHC class II deficiency
-
RFX5 p.Thr106Ala
Uncertain significance
Multiple submitters
MHC class II deficiency
- RFX5 p.Ala206Pro Likely pathogenic Single submitter
- RFX5 p.Ala227Thr Uncertain significance Single submitter
-
RFX5 p.Arg118Trp
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Cys107Ser
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Gly467Arg
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Ile139Val
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Ile146Leu
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Ile381Thr
Uncertain significance
Single submitter
MHC class II deficiency
- RFX5 p.Leu175Val Uncertain significance Single submitter
-
RFX5 p.Leu329Pro
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Lys158Arg
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Lys217Glu
Uncertain significance
Single submitter
MHC class II deficiency
- RFX5 p.Pro379Leu Uncertain significance Single submitter
-
RFX5 p.Ser131Asn
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Ser39Ala
Uncertain significance
Single submitter
MHC class II deficiency
-
RFX5 p.Val42Met
Uncertain significance
Single submitter
MHC class II deficiency
All RFX5 variants
Pathogenic 29
- p.Arg239Ter Multiple submitters MHC class II deficiency
- c.151-1G>T Single submitter MHC class II deficiency
- c.234-1G>A Single submitter RFX5-related disorder
- p.Ala195fs Single submitter MHC class II deficiency
- p.Ala204fs Single submitter MHC class II deficiency
- p.Ala459fs Single submitter MHC class II deficiency
- p.Arg149Ter Single submitter MHC class II deficiency
- p.Arg354fs Single submitter MHC class II deficiency
- p.Arg470Ter Single submitter MHC class II deficiency
- p.Asp105Ter Single submitter MHC class II deficiency
- p.Asp255fs Single submitter MHC class II deficiency
- p.Asp58fs Single submitter MHC class II deficiency
- p.Gln321Ter Single submitter MHC class II deficiency
- p.Gln408Ter Single submitter MHC class II deficiency
- p.Gln532fs Single submitter MHC class II deficiency
- p.Gln67fs Single submitter MHC class II deficiency
- p.Leu124fs Single submitter MHC class II deficiency
- p.Leu270Ter Single submitter MHC class II deficiency
- p.Lys472fs Single submitter MHC class II deficiency
- p.Pro19fs Single submitter MHC class II deficiency
- p.Pro337fs Single submitter MHC class II deficiency
- p.Pro345fs Single submitter MHC class II deficiency
- p.Ser339Ter Single submitter MHC class II deficiency
- p.Tyr91Ter Single submitter MHC class II deficiency
- p.Val201fs Single submitter MHC class II deficiency
- c.116+5G>A No assertion criteria MHC class II deficiency 3
- c.151-1G>A No assertion criteria MHC class II deficiency 3
- p.Asn414fs No assertion criteria MHC class II deficiency 3
- p.Gln494fs No assertion criteria MHC class II deficiency 3
Pathogenic/Likely pathogenic 5
- c.757+1G>A Multiple submitters MHC class II deficiency
- p.Arg294Ter Multiple submitters MHC class II deficiency 3
- p.Arg35Ter Multiple submitters RFX5-related disorder
- p.Gly20fs Multiple submitters MHC class II deficiency
- p.Pro129fs Multiple submitters MHC class II deficiency
Likely pathogenic 15
- c.555+1G>A Multiple submitters MHC class II deficiency
- c.117-1G>T Single submitter MHC class II deficiency
- c.233+1G>T Single submitter MHC class II deficiency
- c.353+2T>G Single submitter MHC class II deficiency
- c.473+2T>C Single submitter MHC class II deficiency
- c.474-2A>G Single submitter MHC class II deficiency
- c.555+1G>C Single submitter MHC class II deficiency
- c.556-2A>G Single submitter MHC class II deficiency
- c.758-2A>G Single submitter MHC class II deficiency
- c.859-2A>G Single submitter MHC class II deficiency
- p.Ala206Pro Single submitter ⚠
- p.Glu47fs Single submitter MHC class II deficiency
- p.Pro342fs Single submitter MHC class II deficiency 3
- p.Ser439fs Single submitter
- p.Ser571fs Single submitter MHC class II deficiency
Conflicting classifications of pathogenicity 12
- c.117-13C>T Single submitter MHC class II deficiency
- c.233+4G>C Single submitter MHC class II deficiency 1
- c.859-15C>T Single submitter MHC class II deficiency
- p.Asp255= Single submitter MHC class II deficiency
- p.Asp610Glu Single submitter MHC class II deficiency ⚠
- p.Gly269= Single submitter MHC class II deficiency
- p.Gly298Ser Single submitter MHC class II deficiency ⚠
- p.Gly547Ser Single submitter MHC class II deficiency ⚠
- p.Ser602Asn Single submitter RFX5-related disorder ⚠
- p.Thr551Ala Single submitter MHC class II deficiency ⚠
- p.Trp500Ter Single submitter MHC class II deficiency
- p.Tyr159= Single submitter MHC class II deficiency
Benign 4
- c.*244A>G Multiple submitters MHC class II deficiency
- c.*283A>G Multiple submitters MHC class II deficiency
- c.*888T>C Multiple submitters MHC class II deficiency
- c.*1084A>C Single submitter MHC class II deficiency
Benign/Likely benign 12
- c.150+11T>C Multiple submitters MHC class II deficiency
- c.757+20T>C Multiple submitters MHC class II deficiency
- p.Ala22Thr Multiple submitters MHC class II deficiency
- p.Arg197Gln Multiple submitters MHC class II deficiency
- p.Arg328= Multiple submitters MHC class II deficiency
- p.Glu523= Multiple submitters MHC class II deficiency
- p.Leu251= Multiple submitters MHC class II deficiency
- p.Leu300= Multiple submitters MHC class II deficiency
- p.Pro409Arg Multiple submitters MHC class II deficiency
- p.Pro499Ser Multiple submitters MHC class II deficiency
- p.Ser460Asn Multiple submitters MHC class II deficiency
- p.Thr74= Multiple submitters MHC class II deficiency
Likely benign 130
- c.116+12T>C Multiple submitters MHC class II deficiency
- c.117-18T>C Multiple submitters MHC class II deficiency
- c.234-6del Multiple submitters MHC class II deficiency
- c.354-13C>T Multiple submitters MHC class II deficiency
- c.473+14G>C Multiple submitters MHC class II deficiency
- c.758-20C>T Multiple submitters MHC class II deficiency
- p.Ala371= Multiple submitters MHC class II deficiency
- p.Ala512= Multiple submitters MHC class II deficiency
- p.Gly395= Multiple submitters MHC class II deficiency
- p.Ile344= Multiple submitters MHC class II deficiency
- p.Thr364= Multiple submitters MHC class II deficiency
- p.Val226= Multiple submitters MHC class II deficiency
- c.116+16A>G Single submitter MHC class II deficiency
- c.116+18C>T Single submitter MHC class II deficiency
- c.116+7A>G Single submitter
- c.150+12G>A Single submitter MHC class II deficiency
- c.150+13G>T Single submitter MHC class II deficiency
- c.150+15G>A Single submitter MHC class II deficiency
- c.150+7G>A Single submitter MHC class II deficiency
- c.151-17_151-16del Single submitter MHC class II deficiency
- c.233+13G>A Single submitter MHC class II deficiency
- c.233+14T>C Single submitter MHC class II deficiency
- c.233+19T>A Single submitter MHC class II deficiency
- c.233+7T>C Single submitter MHC class II deficiency
- c.234-6C>G Single submitter MHC class II deficiency
- c.234-9T>C Single submitter MHC class II deficiency
- c.353+12G>A Single submitter MHC class II deficiency
- c.353+9A>G Single submitter
- c.354-17G>A Single submitter MHC class II deficiency
- c.354-17G>T Single submitter MHC class II deficiency
- c.473+12T>C Single submitter MHC class II deficiency
- c.473+19G>A Single submitter MHC class II deficiency
- c.473+20T>C Single submitter MHC class II deficiency
- c.474-10_474-9del Single submitter MHC class II deficiency
- c.474-12A>G Single submitter MHC class II deficiency
- c.555+11A>G Single submitter MHC class II deficiency
- c.555+19del Single submitter MHC class II deficiency
- c.556-17G>A Single submitter MHC class II deficiency
- c.556-5T>G Single submitter MHC class II deficiency
- c.757+12C>T Single submitter MHC class II deficiency
- c.757+19_757+20del Single submitter MHC class II deficiency
- c.757+19A>C Single submitter MHC class II deficiency
- c.758-19del Single submitter MHC class II deficiency
- c.758-9C>T Single submitter MHC class II deficiency
- c.858+13G>A Single submitter MHC class II deficiency
- c.858+19C>T Single submitter MHC class II deficiency
- c.858+9G>A Single submitter MHC class II deficiency
- c.859-11T>G Single submitter MHC class II deficiency
- c.859-13C>G Single submitter MHC class II deficiency
- c.859-4T>A Single submitter MHC class II deficiency
- c.859-7T>C Single submitter MHC class II deficiency
- c.859-8C>A Single submitter MHC class II deficiency
- c.859-9_859-5del Single submitter MHC class II deficiency
- c.*1413A>C Single submitter MHC class II deficiency
- p.Ala204= Single submitter MHC class II deficiency
- p.Ala206= Single submitter
- p.Ala297= Single submitter MHC class II deficiency
- p.Ala352= Single submitter MHC class II deficiency
- p.Ala41= Single submitter MHC class II deficiency
- p.Ala441= Single submitter MHC class II deficiency
- p.Ala515= Single submitter MHC class II deficiency
- p.Ala528Thr Single submitter
- p.Arg165= Single submitter MHC class II deficiency
- p.Arg166= Single submitter MHC class II deficiency
- p.Arg214= Single submitter MHC class II deficiency
- p.Arg305= Single submitter MHC class II deficiency
- p.Arg479= Single submitter MHC class II deficiency
- p.Arg544= Single submitter MHC class II deficiency
- p.Arg94= Single submitter MHC class II deficiency
- p.Asp105= Single submitter MHC class II deficiency
- p.Asp422= Single submitter MHC class II deficiency
- p.Asp52= Single submitter MHC class II deficiency
- p.Asp76= Single submitter MHC class II deficiency
- p.Gln601= Single submitter MHC class II deficiency
- p.Glu101= Single submitter
- p.Glu225= Single submitter MHC class II deficiency
- p.Glu23= Single submitter MHC class II deficiency
- p.Glu5= Single submitter MHC class II deficiency
- p.Glu87= Single submitter MHC class II deficiency
- p.Gly20= Single submitter MHC class II deficiency
- p.Gly250= Single submitter MHC class II deficiency
- p.Gly276= Single submitter MHC class II deficiency
- p.Gly421= Single submitter MHC class II deficiency
- p.Gly467= Single submitter MHC class II deficiency
- p.Gly504= Single submitter MHC class II deficiency
- p.Gly507= Single submitter MHC class II deficiency
- p.Gly543= Single submitter MHC class II deficiency
- p.Ile146= Single submitter MHC class II deficiency
- p.Ile380= Single submitter MHC class II deficiency
- p.Leu231= Single submitter MHC class II deficiency
- p.Leu320= Single submitter MHC class II deficiency
- p.Leu325= Single submitter MHC class II deficiency
- p.Leu329= Single submitter MHC class II deficiency
- p.Leu332= Single submitter MHC class II deficiency
- p.Leu351= Single submitter MHC class II deficiency
- p.Leu406= Single submitter MHC class II deficiency
- p.Leu484= Single submitter MHC class II deficiency
- p.Leu595= Single submitter MHC class II deficiency
- p.Leu64= Single submitter MHC class II deficiency
- p.Lys181= Single submitter MHC class II deficiency
- p.Lys265= Single submitter MHC class II deficiency
- p.Lys280= Single submitter MHC class II deficiency
- p.Lys361= Single submitter MHC class II deficiency
- p.Lys485= Single submitter MHC class II deficiency
- p.Lys55= Single submitter MHC class II deficiency
- p.Lys77= Single submitter MHC class II deficiency
- p.Phe229= Single submitter MHC class II deficiency
- p.Pro11= Single submitter MHC class II deficiency
- p.Pro129= Single submitter MHC class II deficiency
- p.Pro342= Single submitter MHC class II deficiency
- p.Pro396= Single submitter MHC class II deficiency
- p.Pro546= Single submitter MHC class II deficiency
- p.Ser313= Single submitter MHC class II deficiency
- p.Ser347= Single submitter MHC class II deficiency
- p.Ser357= Single submitter MHC class II deficiency
- p.Ser368= Single submitter MHC class II deficiency
- p.Ser505Leu Single submitter
- p.Ser603= Single submitter MHC class II deficiency
- p.Thr13= Single submitter
- p.Thr29= Single submitter MHC class II deficiency
- p.Thr295= Single submitter MHC class II deficiency
- p.Thr412= Single submitter MHC class II deficiency
- p.Thr538= Single submitter MHC class II deficiency
- p.Thr551= Single submitter MHC class II deficiency
- p.Tyr63= Single submitter MHC class II deficiency
- p.Tyr93= Single submitter MHC class II deficiency
- p.Val201= Single submitter MHC class II deficiency
- p.Val417= Single submitter MHC class II deficiency
- p.Val599= Single submitter MHC class II deficiency
- c.353+9A>T No assertion criteria RFX5-related disorder
Uncertain significance 253
- c.474-3C>A Multiple submitters MHC class II deficiency
- p.Ala241Val Multiple submitters MHC class II deficiency ⚠
- p.Ala441Gly Multiple submitters MHC class II deficiency ⚠
- p.Ala462Pro Multiple submitters MHC class II deficiency ⚠
- p.Ala528Pro Multiple submitters MHC class II deficiency ⚠
- p.Ala554del Multiple submitters MHC class II deficiency
- p.Arg128Cys Multiple submitters MHC class II deficiency ⚠
- p.Arg128His Multiple submitters MHC class II deficiency ⚠
- p.Arg218Trp Multiple submitters MHC class II deficiency ⚠
- p.Arg239Gln Multiple submitters MHC class II deficiency ⚠
- p.Arg260Gln Multiple submitters MHC class II deficiency ⚠
- p.Arg260Trp Multiple submitters MHC class II deficiency ⚠
- p.Arg262Gln Multiple submitters MHC class II deficiency ⚠
- p.Arg262Gly Multiple submitters MHC class II deficiency ⚠
- p.Arg262Trp Multiple submitters MHC class II deficiency ⚠
- p.Arg294Gln Multiple submitters MHC class II deficiency ⚠
- p.Arg302Gly Multiple submitters MHC class II deficiency ⚠
- p.Arg302His Multiple submitters MHC class II deficiency ⚠
- p.Arg305Gln Multiple submitters MHC class II deficiency ⚠
- p.Arg335Gln Multiple submitters MHC class II deficiency ⚠
- p.Arg370Lys Multiple submitters MHC class II deficiency ⚠
- p.Arg466Trp Multiple submitters MHC class II deficiency ⚠
- p.Arg468His Multiple submitters MHC class II deficiency ⚠
- p.Arg470Gln Multiple submitters MHC class II deficiency ⚠
- p.Arg97His Multiple submitters MHC class II deficiency ⚠
- p.Asp145His Multiple submitters MHC class II deficiency
- p.Gln286Arg Multiple submitters MHC class II deficiency ⚠
- p.Gly14Arg Multiple submitters MHC class II deficiency ⚠
- p.Gly182Arg Multiple submitters MHC class II deficiency ⚠
- p.Gly182Ser Multiple submitters MHC class II deficiency ⚠
- p.Gly20Ala Multiple submitters MHC class II deficiency ⚠
- p.Gly393Ala Multiple submitters MHC class II deficiency ⚠
- p.Gly404Glu Multiple submitters MHC class II deficiency ⚠
- p.Gly418Ser Multiple submitters MHC class II deficiency ⚠
- p.Gly475Arg Multiple submitters MHC class II deficiency ⚠
- p.Gly504Ser Multiple submitters MHC class II deficiency ⚠
- p.Gly527Arg Multiple submitters ⚠
- p.Gly591Ser Multiple submitters MHC class II deficiency ⚠
- p.His278Leu Multiple submitters MHC class II deficiency ⚠
- p.Ile344Val Multiple submitters MHC class II deficiency ⚠
- p.Ile558Thr Multiple submitters MHC class II deficiency ⚠
- p.Lys463Glu Multiple submitters MHC class II deficiency ⚠
- p.Lys465Gln Multiple submitters MHC class II deficiency ⚠
- p.Met172Ile Multiple submitters MHC class II deficiency ⚠
- p.Met172Val Multiple submitters MHC class II deficiency ⚠
- p.Pro186Gln Multiple submitters MHC class II deficiency ⚠
- p.Pro19Gln Multiple submitters MHC class II deficiency ⚠
- p.Pro403Ala Multiple submitters MHC class II deficiency ⚠
- p.Pro469Leu Multiple submitters MHC class II deficiency ⚠
- p.Ser183Pro Multiple submitters MHC class II deficiency ⚠
- p.Ser313Leu Multiple submitters MHC class II deficiency ⚠
- p.Ser347Pro Multiple submitters MHC class II deficiency ⚠
- p.Ser460Arg Multiple submitters MHC class II deficiency ⚠
- p.Ser563Leu Multiple submitters MHC class II deficiency ⚠
- p.Ser85Asn Multiple submitters MHC class II deficiency ⚠
- p.Thr106Ala Multiple submitters MHC class II deficiency ⚠
- p.Thr295Ile Multiple submitters MHC class II deficiency ⚠
- p.Thr364Ala Multiple submitters MHC class II deficiency ⚠
- p.Thr387Ala Multiple submitters MHC class II deficiency ⚠
- p.Thr433Ile Multiple submitters MHC class II deficiency ⚠
- p.Thr587Ser Multiple submitters MHC class II deficiency ⚠
- p.Val346Asp Multiple submitters MHC class II deficiency ⚠
- p.Val561Phe Multiple submitters ⚠
- c.117-3C>T Single submitter MHC class II deficiency
- c.858+4A>G Single submitter MHC class II deficiency
- c.858+6G>C Single submitter MHC class II deficiency
- c.859-3T>C Single submitter MHC class II deficiency
- c.*1078C>T Single submitter MHC class II deficiency
- c.*1118A>G Single submitter MHC class II deficiency
- c.*1158G>A Single submitter MHC class II deficiency
- c.*1166A>G Single submitter MHC class II deficiency
- c.*1177C>T Single submitter MHC class II deficiency
- c.*1252C>G Single submitter MHC class II deficiency
- c.*1330C>T Single submitter MHC class II deficiency
- c.*1426A>G Single submitter MHC class II deficiency
- c.*224T>C Single submitter MHC class II deficiency
- c.*29T>G Single submitter MHC class II deficiency
- c.*364A>C Single submitter MHC class II deficiency
- c.*373G>T Single submitter MHC class II deficiency
- c.*661T>C Single submitter MHC class II deficiency
- c.*721G>T Single submitter MHC class II deficiency
- c.*761A>T Single submitter MHC class II deficiency
- c.*838A>G Single submitter MHC class II deficiency
- c.*881C>T Single submitter MHC class II deficiency
- p.Ala116Val Single submitter
- p.Ala17Gly Single submitter ⚠
- p.Ala17Ser Single submitter MHC class II deficiency ⚠
- p.Ala195Val Single submitter MHC class II deficiency ⚠
- p.Ala204Gly Single submitter ⚠
- p.Ala212Gly Single submitter MHC class II deficiency ⚠
- p.Ala212Val Single submitter MHC class II deficiency ⚠
- p.Ala227Thr Single submitter ⚠
- p.Ala238Val Single submitter ⚠
- p.Ala2Thr Single submitter MHC class II deficiency ⚠
- p.Ala301Thr Single submitter MHC class II deficiency ⚠
- p.Ala317Pro Single submitter MHC class II deficiency ⚠
- p.Ala324Val Single submitter ⚠
- p.Ala352Asp Single submitter
- p.Ala352Ser Single submitter ⚠
- p.Ala371Gly Single submitter ⚠
- p.Ala376Glu Single submitter ⚠
- p.Ala390Gly Single submitter MHC class II deficiency ⚠
- p.Ala401Thr Single submitter MHC class II deficiency ⚠
- p.Ala401Val Single submitter MHC class II deficiency ⚠
- p.Ala434Gly Single submitter MHC class II deficiency ⚠
- p.Ala441Val Single submitter MHC class II deficiency ⚠
- p.Ala445Gly Single submitter MHC class II deficiency ⚠
- p.Ala445Pro Single submitter ⚠
- p.Ala445Ser Single submitter MHC class II deficiency ⚠
- p.Ala445Thr Single submitter MHC class II deficiency ⚠
- p.Ala448Phe Single submitter MHC class II deficiency
- p.Ala450Thr Single submitter MHC class II deficiency ⚠
- p.Ala554Gly Single submitter ⚠
- p.Ala554Thr Single submitter MHC class II deficiency ⚠
- p.Ala613fs Single submitter MHC class II deficiency
- p.Arg118Trp Single submitter MHC class II deficiency ⚠
- p.Arg149Gln Single submitter MHC class II deficiency ⚠
- p.Arg165Ser Single submitter MHC class II deficiency ⚠
- p.Arg16Gly Single submitter MHC class II deficiency ⚠
- p.Arg214Gln Single submitter MHC class II deficiency ⚠
- p.Arg218Gln Single submitter MHC class II deficiency ⚠
- p.Arg228His Single submitter MHC class II deficiency ⚠
- p.Arg228Pro Single submitter MHC class II deficiency ⚠
- p.Arg302Leu Single submitter ⚠
- p.Arg335Pro Single submitter ⚠
- p.Arg335Trp Single submitter MHC class II deficiency
- p.Arg338Cys Single submitter MHC class II deficiency ⚠
- p.Arg338His Single submitter MHC class II deficiency ⚠
- p.Arg33Gly Single submitter MHC class II deficiency ⚠
- p.Arg410Gln Single submitter MHC class II deficiency ⚠
- p.Arg410Trp Single submitter MHC class II deficiency ⚠
- p.Arg415Thr Single submitter ⚠
- p.Arg464Lys Single submitter RFX5-related disorder ⚠
- p.Arg497Thr Single submitter MHC class II deficiency ⚠
- p.Arg572Lys Single submitter MHC class II deficiency ⚠
- p.Arg94Gly Single submitter ⚠
- p.Asn268Ser Single submitter MHC class II deficiency ⚠
- p.Asn382fs Single submitter
- p.Asn592Ser Single submitter MHC class II deficiency ⚠
- p.Asn86Asp Single submitter MHC class II deficiency ⚠
- p.Asp115del Single submitter MHC class II deficiency
- p.Asp115Glu Single submitter MHC class II deficiency
- p.Asp198Asn Single submitter MHC class II deficiency ⚠
- p.Asp4Asn Single submitter MHC class II deficiency ⚠
- p.Asp594fs Single submitter MHC class II deficiency
- p.Asp76Ala Single submitter ⚠
- p.Asp7Glu Single submitter MHC class II deficiency ⚠
- p.Cys107Ser Single submitter MHC class II deficiency ⚠
- p.Cys126Ser Single submitter MHC class II deficiency ⚠
- p.Gln233Arg Single submitter MHC class II deficiency ⚠
- p.Gln321Arg Single submitter MHC class II deficiency ⚠
- p.Gln43= Single submitter MHC class II deficiency
- p.Gln494Arg Single submitter ⚠
- p.Gln590fs Single submitter MHC class II deficiency
- p.Gln601Arg Single submitter ⚠
- p.Gln606Ter Single submitter MHC class II deficiency
- p.Glu256Lys Single submitter MHC class II deficiency ⚠
- p.Glu282Gln Single submitter MHC class II deficiency ⚠
- p.Glu416dup Single submitter MHC class II deficiency
- p.Glu523Asp Single submitter RFX5-related disorder ⚠
- p.Gly189Val Single submitter MHC class II deficiency ⚠
- p.Gly276Arg Single submitter MHC class II deficiency ⚠
- p.Gly298Arg Single submitter ⚠
- p.Gly36Arg Single submitter MHC class II deficiency ⚠
- p.Gly372Arg Single submitter MHC class II deficiency ⚠
- p.Gly393Arg Single submitter ⚠
- p.Gly393Glu Single submitter MHC class II deficiency ⚠
- p.Gly395Val Single submitter ⚠
- p.Gly397Arg Single submitter MHC class II deficiency ⚠
- p.Gly411Ser Single submitter ⚠
- p.Gly467Arg Single submitter MHC class II deficiency ⚠
- p.Gly474Arg Single submitter MHC class II deficiency ⚠
- p.Gly504Asp Single submitter MHC class II deficiency ⚠
- p.Gly509Asp Single submitter MHC class II deficiency ⚠
- p.Gly583Glu Single submitter MHC class II deficiency ⚠
- p.His244Asn Single submitter MHC class II deficiency ⚠
- p.His426Arg Single submitter MHC class II deficiency ⚠
- p.His550Asp Single submitter MHC class II deficiency ⚠
- p.His608Arg Single submitter MHC class II deficiency ⚠
- p.His608Tyr Single submitter ⚠
- p.Ile139Val Single submitter MHC class II deficiency ⚠
- p.Ile146Leu Single submitter MHC class II deficiency ⚠
- p.Ile341dup Single submitter MHC class II deficiency
- p.Ile381Thr Single submitter MHC class II deficiency ⚠
- p.Ile384Phe Single submitter MHC class II deficiency ⚠
- p.Ile419Leu Single submitter MHC class II deficiency ⚠
- p.Ile455Val Single submitter MHC class II deficiency ⚠
- p.Ile96Thr Single submitter ⚠
- p.Leu151Pro Single submitter ⚠
- p.Leu175Val Single submitter ⚠
- p.Leu207Val Single submitter MHC class II deficiency
- p.Leu216Val Single submitter MHC class II deficiency ⚠
- p.Leu284Pro Single submitter MHC class II deficiency ⚠
- p.Leu329Pro Single submitter MHC class II deficiency ⚠
- p.Leu355Val Single submitter MHC class II deficiency ⚠
- p.Leu360Pro Single submitter MHC class II deficiency ⚠
- p.Leu530Val Single submitter MHC class II deficiency ⚠
- p.Lys158Arg Single submitter MHC class II deficiency ⚠
- p.Lys217Glu Single submitter MHC class II deficiency ⚠
- p.Lys279Arg Single submitter ⚠
- p.Lys428Arg Single submitter MHC class II deficiency ⚠
- p.Lys472Met Single submitter MHC class II deficiency ⚠
- p.Lys564Glu Single submitter MHC class II deficiency ⚠
- p.Lys569Thr Single submitter ⚠
- p.Lys582Asn Single submitter MHC class II deficiency ⚠
- p.Lys582Glu Single submitter MHC class II deficiency ⚠
- p.Pro129Ser Single submitter MHC class II deficiency ⚠
- p.Pro19Arg Single submitter MHC class II deficiency ⚠
- p.Pro259Ser Single submitter MHC class II deficiency ⚠
- p.Pro287Leu Single submitter MHC class II deficiency ⚠
- p.Pro315Leu Single submitter MHC class II deficiency ⚠
- p.Pro334Ser Single submitter
- p.Pro345Thr Single submitter MHC class II deficiency ⚠
- p.Pro349Ser Single submitter MHC class II deficiency ⚠
- p.Pro353Arg Single submitter MHC class II deficiency ⚠
- p.Pro374Arg Single submitter ⚠
- p.Pro379Leu Single submitter ⚠
- p.Pro409Ser Single submitter MHC class II deficiency ⚠
- p.Pro437His Single submitter ⚠
- p.Pro546Ser Single submitter ⚠
- p.Pro562Leu Single submitter MHC class II deficiency ⚠
- p.Pro616Leu Single submitter MHC class II deficiency ⚠
- p.Pro72Ser Single submitter MHC class II deficiency
- p.Ser131Asn Single submitter MHC class II deficiency ⚠
- p.Ser240Cys Single submitter MHC class II deficiency ⚠
- p.Ser308Gly Single submitter MHC class II deficiency ⚠
- p.Ser308Thr Single submitter MHC class II deficiency ⚠
- p.Ser357Ala Single submitter MHC class II deficiency ⚠
- p.Ser39Ala Single submitter MHC class II deficiency ⚠
- p.Ser439Ile Single submitter MHC class II deficiency ⚠
- p.Ser442Thr Single submitter MHC class II deficiency ⚠
- p.Ser460Ile Single submitter MHC class II deficiency ⚠
- p.Ser486Leu Single submitter ⚠
- p.Ser496Leu Single submitter ⚠
- p.Ser566Asn Single submitter MHC class II deficiency ⚠
- p.Ser78Cys Single submitter ⚠
- p.Ter617AspextTer? Single submitter MHC class II deficiency
- p.Thr104Ala Single submitter MHC class II deficiency ⚠
- p.Thr13Ala Single submitter ⚠
- p.Thr387Ser Single submitter MHC class II deficiency ⚠
- p.Thr407Asn Single submitter ⚠
- p.Thr458Ala Single submitter MHC class II deficiency ⚠
- p.Thr482Ile Single submitter MHC class II deficiency ⚠
- p.Thr538Pro Single submitter ⚠
- p.Val224Ile Single submitter ⚠
- p.Val346Ala Single submitter MHC class II deficiency ⚠
- p.Val346Ile Single submitter MHC class II deficiency ⚠
- p.Val378Ala Single submitter ⚠
- p.Val417Ala Single submitter MHC class II deficiency ⚠
- p.Val417Ile Single submitter ⚠
- p.Val42Met Single submitter MHC class II deficiency ⚠
- p.Val567Leu Single submitter ⚠
- p.Val585Gly Single submitter MHC class II deficiency ⚠