STAT2 — 565 ClinVar variants
All ClinVar germline STAT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 219 flagged for review →
27 Pathogenic · 4 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 10 Conflicting · 6 Benign · 8 Benign/Likely benign · 265 Likely benign · 242 Uncertain significance
Full STAT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 219
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 vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
STAT2 p.Gly526Arg
Pathogenic
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Arg148Trp
Pathogenic
No assertion criteria
pseudo-TORCH syndrome 3
Predictors agree, ClinVar conflicts 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
STAT2 p.Arg148Gln
Conflicting
Single submitter
pseudo-TORCH syndrome 3
-
STAT2 p.Arg92Gln
Conflicting
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Gln371Glu
Conflicting
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Gln779Arg
Conflicting
Single submitter
Inborn genetic diseases
-
STAT2 p.Val829Met
Conflicting
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Val834Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 166
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 166
-
STAT2 p.Ala219Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAT2 p.Ala302Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAT2 p.Arg300Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAT2 p.Arg330Gln
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Arg544Gln
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Arg576Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAT2 p.Arg646Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAT2 p.Arg662Cys
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Arg662His
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Arg667Gln
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Arg687Trp
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Asn354Ser
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Asn418Ser
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Asn700Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAT2 p.Asp843Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAT2 p.Cys246Ser
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Gln394His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAT2 p.Gln784His
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Gln84Lys
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Glu732Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAT2 p.Gly372Ser
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Gly825Asp
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.His565Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAT2 p.Ile39Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAT2 p.Ile668Met
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Leu111Phe
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Met816Leu
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Met847Val
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Pro368Ala
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Pro421Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAT2 p.Pro548Ser
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Pro731Ser
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Ser12Gly
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Ser432Gly
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Thr434Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAT2 p.Val342Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAT2 p.Val762Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAT2 p.Val782Ile
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Ala122Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAT2 p.Ala181Val
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Ala219Val
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- STAT2 p.Ala249Val Uncertain significance Single submitter
-
STAT2 p.Ala315Gly
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Ala491Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAT2 p.Arg223Gln
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Arg223Leu
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Arg300His
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Arg310His
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Arg343Gln
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Arg576His
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Arg576Leu
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Arg587His
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Arg670Trp
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Arg687Gln
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Arg836Cys
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Arg836His
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Arg92Trp
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Asn204Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAT2 p.Asn382Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAT2 p.Asp16Gly
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Asp189Glu
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- STAT2 p.Asp215Gly Uncertain significance Single submitter
-
STAT2 p.Asp252Ala
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Asp449Asn
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Asp619Glu
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Asp736Ala
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Asp746His
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Asp794Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAT2 p.Asp843Val
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Cys793Gly
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Gln126Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAT2 p.Gln180Glu
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Gln192Glu
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Gln45His
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Gln482Leu
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Gln679Arg
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Gln685Lys
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Gln99Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAT2 p.Gln99His
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Glu114Lys
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Glu135Lys
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Glu229Lys
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Glu237Asp
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Glu705Gly
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Glu722Gln
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Glu722Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAT2 p.Glu738Gln
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- STAT2 p.Glu756Ala Uncertain significance Single submitter
-
STAT2 p.Glu79Gln
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Glu831Lys
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Gly254Arg
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Gly254Glu
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Gly423Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAT2 p.Gly609Asp
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Gly726Arg
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.His143Asn
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.His143Gln
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.His253Asp
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.His329Leu
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.His565Arg
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.His693Gln
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Ile145Thr
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Ile163Val
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Ile39Ser
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Ile430Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAT2 p.Ile431Leu
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Ile625Phe
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Ile94Thr
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Leu111Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAT2 p.Leu134Phe
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- STAT2 p.Leu150Pro Uncertain significance Single submitter
-
STAT2 p.Leu227Val
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Leu232Met
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Leu235Ser
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Leu500Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAT2 p.Leu520Val
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Leu589Pro
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Leu600Val
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Leu684Val
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Leu725Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAT2 p.Leu747Met
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Leu767Val
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Leu846Trp
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Lys197Thr
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Lys267Arg
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Lys277Arg
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Lys295Glu
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Lys622Gln
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Met107Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAT2 p.Met155Val
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Met594Val
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- STAT2 p.Met803Arg Uncertain significance Single submitter
- STAT2 p.Phe61Ser Uncertain significance Single submitter
-
STAT2 p.Phe97Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAT2 p.Pro137Ala
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Pro186Ser
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- STAT2 p.Pro28Leu Uncertain significance Single submitter
-
STAT2 p.Pro292Ala
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Pro489Thr
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Pro498Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAT2 p.Pro657Arg
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- STAT2 p.Pro709Leu Uncertain significance Single submitter
-
STAT2 p.Pro731Gln
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Pro775Ser
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Pro817Leu
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Pro845Thr
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Pro848Leu
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Ser140Gly
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Ser417Gly
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Ser537Ala
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 45
The independent predictors disagree with each other — read with care.
-
STAT2 p.Arg409His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAT2 p.Arg510Gln
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Asp558Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAT2 p.Gln242Glu
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Gln503His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAT2 p.Ile363Thr
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Pro489Arg
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Pro489His
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Pro489Leu
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Pro657Ser
Uncertain significance
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Thr448Met
Benign/Likely benign
Multiple submitters
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Trp261Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAT2 p.Ala125Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAT2 p.Ala2Val
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Ala465Ser
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Arg345Lys
Uncertain significance
Single submitter
pseudo-TORCH syndrome 3
-
STAT2 p.Arg374Gln
Uncertain significance
Single submitter
pseudo-TORCH syndrome 3
-
STAT2 p.Arg583Gln
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Arg588Trp
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Arg73Cys
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Arg73His
Conflicting
Single submitter
Inborn genetic diseases
-
STAT2 p.Asn473Thr
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Asp540Asn
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Gln243Leu
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Gln42Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAT2 p.Gln42Lys
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Gln629Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAT2 p.Gly608Ala
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Leu641Pro
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Leu87Phe
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Met324Leu
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Met519Val
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Met578Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAT2 p.Phe90Ser
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Pro101Ser
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Pro488Ala
Conflicting
Single submitter
Inborn genetic diseases
-
STAT2 p.Pro488Leu
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Pro488Ser
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Pro489Ala
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Pro787Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAT2 p.Ser582Asn
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Thr632Met
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Tyr677Cys
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Val348Met
Uncertain significance
Single submitter
primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
STAT2 p.Val623Met
Uncertain significance
Single submitter
Inborn genetic diseases
All STAT2 variants
Pathogenic 27
- c.633+2T>C Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.941+1G>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Arg223Ter Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Arg32Ter Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Arg343Ter Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Arg349fs Single submitter
- p.Arg510Ter Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Arg544Ter Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Gln394Ter Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Gln42Ter Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Gln527fs Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Gln618Ter Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Glu135Ter Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Glu756fs Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Gly526Arg Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Gly579fs Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Gly609fs Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu599fs Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu733fs Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Met58fs Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Phe316fs Single submitter
- p.Phe553fs Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Thr226fs Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Thr260fs Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.381+5G>C No assertion criteria primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Arg148Trp No assertion criteria pseudo-TORCH syndrome 3 ⚠
- p.Cys612Ter No assertion criteria primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Pathogenic/Likely pathogenic 4
- c.1209+1del Multiple submitters STAT2-related disorder
- p.Arg667Ter Multiple submitters STAT2-related disorder
- p.Gln274Ter Multiple submitters STAT2-related disorder
- p.Lys490fs Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Likely pathogenic 3
- c.131+1G>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1577-1G>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1630-2A>G Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Conflicting classifications of pathogenicity 10
- c.382-9dup Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Arg148Gln Single submitter pseudo-TORCH syndrome 3 ⚠
- p.Arg73His Single submitter Inborn genetic diseases ⚠
- p.Arg92Gln Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Asn301= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Gln371Glu Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Gln779Arg Single submitter Inborn genetic diseases ⚠
- p.Pro488Ala Single submitter Inborn genetic diseases ⚠
- p.Val829Met Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Val834Ile Single submitter Inborn genetic diseases ⚠
Benign 6
- c.1257+6A>G Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu127= Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1095-19dup Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.285+11C>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.472-18G>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Lys55= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Benign/Likely benign 8
- p.Ala824= Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Gln826His Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Gly825Cys Multiple submitters
- p.His253= Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Ile464Val Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu442= Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Met594Ile Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Thr448Met Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
Likely benign 265
- c.1095-19T>A Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1095-8C>G Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.131+12A>G Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.131+18T>C Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.132-7T>C Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1341+14G>A Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1440+15C>T Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1440+16C>A Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1440+16C>T Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1440+9G>A Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1441-19A>G Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1577-13A>G Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.2044+10G>A Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.2044+9C>T Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.2103-19T>C Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.285+5T>C Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.286-5T>C Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.472-18G>T Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.547+13T>C Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.548-10C>T Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.548-15G>A Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.633+11G>A Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.634-13A>G Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.782+9T>C Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Asn354= Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Gln126= Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Gln483= Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Glu801= Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Gly549= Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu134= Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu214= Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu258= Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu706= Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu718= Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Pro630= Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Pro709= Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Ser494= Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Ser605= Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Thr434= Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1034+10C>G Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1034+10C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1034+16C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1035-12T>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1035-15C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1035-16C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1035-18C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1035-4C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1035-5C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1094+13A>C Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1094+16T>G Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1095-13T>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1095-18A>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1095-8C>A Single submitter
- c.1115+13C>G Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1115+13C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1115+8C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1116-10_1116-8del Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1116-18A>C Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1116-18A>G Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1116-20G>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1209+11T>A Single submitter
- c.1209+9A>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1210-18C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1210-5C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1257+14del Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1257+16_1257+17del Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1258-12T>C Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1258-19_1258-18del Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1258-19A>G Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1258-4C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.131+13G>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.131+15A>C Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.131+16A>G Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.132-12C>G Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.132-14T>C Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1341+17G>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1342-16C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1440+17G>A Single submitter
- c.1441-13C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1441-14T>C Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1576+13T>G Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1576+18T>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1576+19C>G Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1577-15C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1629+10T>C Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1629+12A>G Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1629+17T>C Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1629+18G>C Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1629+7C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1630-13A>G Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1630-6C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1630-7C>G Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1630-7C>T Single submitter
- c.1630-8T>C Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1630-9C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1724+11G>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1724+17C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1725-13C>G Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1725-6C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1725-9G>C Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1862-10C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1862-15G>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1862-19T>C Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1862-4C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1862-6C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1862-8C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.2044+15C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.2044+7A>G Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.2045-13A>G Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.2045-14T>C Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.2045-15A>G Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.2045-20_2045-18del Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.2102+7T>G Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.2102+8A>G Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.2102+9_2102+12dup Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.2102+9T>C Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.2103-17T>C Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.2103-18C>G Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.2103-20G>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.2413+14T>C Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.2414-4C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.285+11C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.285+12G>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.285+13G>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.285+20G>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.286-17C>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.381+13C>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.382-10C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.382-14G>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.471+10T>C Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.471+15dup Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.472-12T>C Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.472-8C>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.472-8C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.547+11C>G Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.547+14dup Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.547+17G>C Single submitter
- c.547+20G>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.548-19T>C Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.548-26GACT[3] Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.633+12A>G Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.633+14G>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.633+7G>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.633+8A>C Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.634-11C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.634-16A>G Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.782+7G>C Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.783-17T>C Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.941+14G>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.941+8G>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.942-14C>G Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.942-17C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.942-8C>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.-7-4G>A Single submitter
- p.Ala181= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Ala2= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Ala48= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Ala491= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Ala499= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Ala673= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Arg530= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Arg544= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Arg583= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Arg588= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Arg88= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Asn458= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Asn487= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Asn655= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Asp41= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Asp736= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Asp778= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Asp93= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Gln170= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Gln241= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Gln351= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Gln369= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Gln408= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Gln440= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Gln527= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Gln637= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Gln772= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Glu604= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Glu750= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Glu831= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Gly265= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Gly296= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Gly748= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.His24= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Ile228= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Ile456= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Ile560= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Ile696= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Ile815= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu159= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu199= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu231= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu255= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu272= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu299= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu312= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu346= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu350= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu370= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu536= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu568= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu599= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu600= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu624= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu636= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu651= Single submitter
- p.Leu67= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu721= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu723= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu727= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu755= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu791= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu81= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu846= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Lys178= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Lys197= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Lys234= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Lys384= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Lys436= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Lys592= Single submitter
- p.Lys742= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Phe400= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Phe90= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Phe97= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Pro233= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Pro325= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Pro421= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Pro488= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Pro552= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Pro640= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Pro761= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Pro775= Single submitter
- p.Pro792= Single submitter
- p.Pro817= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Ser187= Single submitter
- p.Ser217= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Ser23= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Ser413= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Ser468= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Ser514= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Ser537= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Ser757= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Ser80Cys Single submitter Inborn genetic diseases
- p.Thr225= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Thr226= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Thr260= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Thr341= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Thr344= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Thr358= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Thr385= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Thr450= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Thr555= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Thr632= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Thr828= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Tyr177= Single submitter
- p.Val359= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Val682= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Val703= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Val762= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Val774= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Val834= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Uncertain significance 242
- p.Ala219Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala302Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg300Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg330Gln Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Arg409His Multiple submitters Inborn genetic diseases ⚠
- p.Arg510Gln Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Arg544Gln Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Arg576Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg646Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg662Cys Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Arg662His Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Arg667Gln Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Arg687Trp Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Asn354Ser Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Asn418Ser Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Asn700Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp558Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp843Glu Multiple submitters Inborn genetic diseases ⚠
- p.Cys246Ser Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Gln242Glu Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Gln394His Multiple submitters Inborn genetic diseases ⚠
- p.Gln503His Multiple submitters Inborn genetic diseases ⚠
- p.Gln784His Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Gln84Lys Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Glu562Lys Multiple submitters Inborn genetic diseases
- p.Glu732Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly372Ser Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Gly825Asp Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.His565Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ile363Thr Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Ile39Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile668Met Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Leu111Phe Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Met816Leu Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Met847Val Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Pro368Ala Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Pro421Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro489Arg Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Pro489His Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Pro489Leu Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Pro548Ser Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Pro657Ser Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Pro731Ser Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Ser12Gly Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Ser432Gly Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Ser605Leu Multiple submitters Inborn genetic diseases
- p.Thr434Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr448= Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Trp261Gly Multiple submitters Inborn genetic diseases ⚠
- p.Val342Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val762Met Multiple submitters Inborn genetic diseases ⚠
- p.Val782Ile Multiple submitters primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- c.1035-6C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1094+4A>C Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1210-3C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.1258-3C>T Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.131+5G>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.2045-9T>G Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.381+3G>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.382-8T>G Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.633+6A>C Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.634-3dup Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.782+3G>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.941+3C>A Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.942-15_942-2del Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- c.*7C>G Single submitter
- p.Ala122Gly Single submitter Inborn genetic diseases ⚠
- p.Ala125Pro Single submitter Inborn genetic diseases ⚠
- p.Ala181Val Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Ala219Val Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Ala249Val Single submitter ⚠
- p.Ala2Val Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Ala315Gly Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Ala36Thr Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Ala465Ser Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Ala491Val Single submitter Inborn genetic diseases ⚠
- p.Arg223Gln Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Arg223Leu Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Arg300His Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Arg310His Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Arg343Gln Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Arg345Lys Single submitter pseudo-TORCH syndrome 3 ⚠
- p.Arg374Gln Single submitter pseudo-TORCH syndrome 3 ⚠
- p.Arg576His Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Arg576Leu Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Arg583Gln Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Arg587His Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Arg588Trp Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Arg670Trp Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Arg687Gln Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Arg73Cys Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Arg836Cys Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Arg836His Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Arg92Trp Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Asn204Ser Single submitter Inborn genetic diseases ⚠
- p.Asn382Thr Single submitter Inborn genetic diseases ⚠
- p.Asn473Thr Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Asn655His Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Asn655Thr Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Asn86Tyr Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Asp16Gly Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Asp189Glu Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Asp215Gly Single submitter ⚠
- p.Asp252Ala Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Asp449Asn Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Asp540Asn Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Asp619Glu Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Asp736Ala Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Asp746His Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Asp794Gly Single submitter Inborn genetic diseases ⚠
- p.Asp843Val Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Cys793Gly Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Gln126Glu Single submitter Inborn genetic diseases ⚠
- p.Gln180Glu Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Gln192Glu Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Gln243Leu Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Gln42Arg Single submitter Inborn genetic diseases ⚠
- p.Gln42Lys Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Gln444Pro Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Gln45His Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Gln482Leu Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Gln629Pro Single submitter Inborn genetic diseases ⚠
- p.Gln679Arg Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Gln685Lys Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Gln99Arg Single submitter Inborn genetic diseases ⚠
- p.Gln99His Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Glu114Lys Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Glu135Lys Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Glu229Lys Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Glu237Asp Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Glu654del Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Glu705Gly Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Glu711_Leu712del Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Glu722Gln Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Glu722Lys Single submitter Inborn genetic diseases ⚠
- p.Glu738Gln Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Glu756Ala Single submitter ⚠
- p.Glu79Gln Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Glu831Lys Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Gly254Arg Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Gly254Glu Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Gly395Cys Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Gly423Ser Single submitter Inborn genetic diseases ⚠
- p.Gly608Ala Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Gly609Asp Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Gly726Arg Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.His143Asn Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.His143Gln Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.His253Asp Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.His329Leu Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.His565Arg Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.His693Gln Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Ile145Thr Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Ile163Val Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Ile39Ser Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Ile430Val Single submitter Inborn genetic diseases ⚠
- p.Ile431Leu Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Ile610del Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Ile625Phe Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Ile94Thr Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Leu111Ile Single submitter Inborn genetic diseases ⚠
- p.Leu134Phe Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Leu150Pro Single submitter ⚠
- p.Leu227Val Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Leu232Met Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Leu235Ser Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Leu269del Single submitter
- p.Leu495= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu500Phe Single submitter Inborn genetic diseases ⚠
- p.Leu520Val Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Leu536del Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Leu589Pro Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Leu600Val Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Leu641Pro Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Leu684Val Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Leu725Ile Single submitter Inborn genetic diseases ⚠
- p.Leu747Met Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Leu767Val Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Leu846Trp Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Leu87Phe Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Lys197Thr Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Lys211= Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Lys267Arg Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Lys277Arg Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Lys295Glu Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Lys419Asn Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Lys622Gln Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Met107Val Single submitter Inborn genetic diseases ⚠
- p.Met155Val Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Met324Leu Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Met519Val Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Met578Ile Single submitter Inborn genetic diseases ⚠
- p.Met594Val Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Met803Arg Single submitter ⚠
- p.Phe525= Single submitter
- p.Phe61Ser Single submitter ⚠
- p.Phe90Ser Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Phe97Ile Single submitter Inborn genetic diseases ⚠
- p.Pro101Ser Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Pro137Ala Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Pro186Ser Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Pro28Leu Single submitter ⚠
- p.Pro292Ala Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Pro488Leu Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Pro488Ser Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Pro489Ala Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Pro489Thr Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Pro498Ala Single submitter Inborn genetic diseases ⚠
- p.Pro657Arg Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Pro709Leu Single submitter ⚠
- p.Pro731Gln Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Pro775Ser Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Pro787Arg Single submitter Inborn genetic diseases ⚠
- p.Pro817Leu Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Pro845Thr Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Pro848Leu Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Ser140Gly Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Ser417Gly Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Ser506del Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- p.Ser537Ala Single submitter Inborn genetic diseases ⚠
- p.Ser582Asn Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Ser757Pro Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Ser783Leu Single submitter Inborn genetic diseases ⚠
- p.Ser98Phe Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Thr225Ser Single submitter Inborn genetic diseases ⚠
- p.Thr263Ile Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Thr632Met Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Thr842Ala Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Thr842Asn Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Thr842Ser Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Trp538Arg Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Tyr677Cys Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Val172Ile Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Val342Asp Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Val348Met Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Val361Ile Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Val37Leu Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Val37Phe Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Val454Met Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Val623Met Single submitter Inborn genetic diseases ⚠
- p.Val635Met Single submitter primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection ⚠
- p.Gln200Ter No assertion criteria