ADA2 — 585 ClinVar variants
All ClinVar germline ADA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 250 flagged for review →
42 Pathogenic · 13 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 28 Conflicting · 36 Benign · 8 Benign/Likely benign · 182 Likely benign · 248 Uncertain significance
Full ADA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 250
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 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ADA2 p.Gly383Ser
Pathogenic/Likely pathogenic
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Pro251Leu
Pathogenic/Likely pathogenic
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Tyr453Cys
Pathogenic/Likely pathogenic
Multiple submitters
Sneddon syndrome
-
ADA2 p.Asp502Gly
Likely pathogenic
Single submitter
deficiency of adenosine deaminase 2
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ADA2 p.Gly321Glu
Conflicting
Single submitter
autoinflammatory syndrome
-
ADA2 p.His91Arg
Conflicting
Single submitter
autoinflammatory syndrome
-
ADA2 p.Leu188Pro
Conflicting
Single submitter
Sneddon syndrome
-
ADA2 p.Phe355Leu
Conflicting
Single submitter
autoinflammatory syndrome
-
ADA2 p.Pro106Ser
Conflicting
Single submitter
deficiency of adenosine deaminase 2
Predictors lean, ClinVar uncertain 123
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ADA2 p.Ala11Val
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.Ala27Ser
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.Ala27Thr
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.Ala69Thr
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Arg154His
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.Arg45Gln
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.Asp4Asn
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.Gln145His
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Gln97Glu
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.Glu262Lys
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Glu8Lys
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Gly216Val
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Gly25Cys
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Gly450Ala
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.His114Gln
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.His293Arg
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.Ile196Thr
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Ile214Val
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.Ile30Val
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Leu28Pro
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Leu39Met
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Lys511Gln
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Met121Ile
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.Met121Thr
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Met121Val
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Met243Ile
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.Met436Val
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Met445Ile
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Phe276Ser
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Thr213Ile
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.Thr317Met
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Thr330Ala
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Thr492Ala
Uncertain significance
Multiple submitters
ADA2-related disorder
-
ADA2 p.Trp204Cys
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.Val458Ala
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Ala110Val
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ala149Val
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
- ADA2 p.Ala18Val Uncertain significance Single submitter
-
ADA2 p.Ala221Val
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ala302Thr
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ala345Thr
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Arg103Lys
Uncertain significance
Single submitter
autoinflammatory syndrome
-
ADA2 p.Arg126Lys
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Arg126Ser
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Arg141Lys
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Arg312Gln
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Arg312Pro
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Arg34Pro
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Arg395Lys
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Asp238Gly
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Asp292Asn
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Asp31His
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Asp323Asn
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Asp347Asn
Uncertain significance
Single submitter
autoinflammatory syndrome
-
ADA2 p.Asp454Asn
Uncertain significance
Single submitter
Sneddon syndrome
-
ADA2 p.Asp4Tyr
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Cys137Ser
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Cys137Tyr
Uncertain significance
Single submitter
Sneddon syndrome
-
ADA2 p.Glu157Ala
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Glu94Asp
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Gly25Ser
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Gly285Glu
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Gly285Val
Uncertain significance
Single submitter
Sneddon syndrome
-
ADA2 p.Gly321Arg
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Gly326Arg
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Gly326Glu
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.His133Asp
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.His135Pro
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.His327Arg
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.His327Pro
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.His391Gln
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.His424Arg
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.His434Leu
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.His85Asp
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ile116Thr
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ile118Leu
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ile196Val
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ile245Met
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ile284Leu
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ile286Val
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ile301Val
Uncertain significance
Single submitter
Sneddon syndrome
-
ADA2 p.Ile367Thr
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ile367Val
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ile480Thr
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
- ADA2 p.Ile480Val Uncertain significance Single submitter
-
ADA2 p.Ile505Val
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ile79Leu
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Leu113Ile
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Leu249Arg
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Lys338Arg
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Lys72Arg
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Met21Val
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Met243Val
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Met309Thr
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
- ADA2 p.Met430Arg Uncertain significance Single submitter
-
ADA2 p.Met445Thr
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Met460Val
Uncertain significance
Single submitter
Sneddon syndrome
-
ADA2 p.Met477Ile
Uncertain significance
Single submitter
Sneddon syndrome
-
ADA2 p.Phe207Cys
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
- ADA2 p.Phe207Ser Uncertain significance Single submitter
-
ADA2 p.Phe212Ser
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Phe224Leu
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Pro106Arg
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Pro409Ser
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Pro443Arg
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ser256Asn
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ser295Phe
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ser452Pro
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Thr209Asn
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Thr330Ser
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Thr33Ile
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Thr379Ala
Uncertain significance
Single submitter
Sneddon syndrome
-
ADA2 p.Thr428Ile
Uncertain significance
Single submitter
autoinflammatory syndrome
- ADA2 p.Trp501Arg Uncertain significance Single submitter
-
ADA2 p.Tyr453His
Uncertain significance
Single submitter
Sneddon syndrome
-
ADA2 p.Val172Leu
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Val189Leu
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Val240Met
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Val300Leu
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Val426Ile
Uncertain significance
Single submitter
Sneddon syndrome
-
ADA2 p.Val508Met
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Val51Leu
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Lys267Gln
Uncertain significance
No assertion criteria
Deficiency of ADA2
Predictors split 118
The independent predictors disagree with each other — read with care.
-
ADA2 p.Ala247Val
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Ala345Pro
Uncertain significance
Multiple submitters
autoinflammatory syndrome
-
ADA2 p.Ala35Val
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.Arg154Cys
Uncertain significance
Multiple submitters
autoinflammatory syndrome
-
ADA2 p.Arg169Gln
Pathogenic/Likely pathogenic
Multiple submitters
ADA2-related disorder
-
ADA2 p.Arg171Trp
Benign/Likely benign
Multiple submitters
autoinflammatory syndrome
-
ADA2 p.Arg230Trp
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Arg306Gln
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Arg306Gly
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Arg45Gly
Uncertain significance
Multiple submitters
autoinflammatory syndrome
-
ADA2 p.Arg45Trp
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.Arg49Trp
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Arg9Gln
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Asn423Lys
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Asn60Ser
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.Asp329Asn
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.Asp336Gly
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Asp373Val
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.Gln145Pro
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Gln88His
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Glu489Gln
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.Glu489Lys
Uncertain significance
Multiple submitters
autoinflammatory syndrome
-
ADA2 p.Gly450Ser
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.Gly47Ala
Pathogenic
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Gly48Ala
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.Gly48Glu
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.Gly48Val
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.His391Arg
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.Ile367Leu
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Ile405Leu
Uncertain significance
Multiple submitters
autoinflammatory syndrome
-
ADA2 p.Ile405Thr
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Ile462Thr
Uncertain significance
Multiple submitters
ADA2-related disorder
-
ADA2 p.Met105Val
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.Met436Thr
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Met477Thr
Uncertain significance
Multiple submitters
Sneddon syndrome
- ADA2 p.Met84Thr Uncertain significance Multiple submitters
-
ADA2 p.Met84Val
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Phe211Tyr
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Pro151Leu
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Ser205Leu
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.Ser452Cys
Uncertain significance
Multiple submitters
Sneddon syndrome
-
ADA2 p.Thr120Ile
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Thr139Ala
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Thr209Ile
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Thr360Ala
Pathogenic
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Val119Met
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Val458Gly
Uncertain significance
Multiple submitters
deficiency of adenosine deaminase 2
-
ADA2 p.Ala340Ser
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ala357Thr
Conflicting
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ala387Thr
Uncertain significance
Single submitter
Sneddon syndrome
-
ADA2 p.Ala89Val
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Arg103Trp
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Arg34Gln
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Arg34Trp
Conflicting
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Arg62Ser
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Arg76Gly
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Arg9Trp
Conflicting
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Asn100Tyr
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Asn127His
Uncertain significance
Single submitter
Sneddon syndrome
-
ADA2 p.Asn127Ser
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Asn378Lys
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Asp122Val
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
- ADA2 p.Asp167Gly Uncertain significance Single submitter
-
ADA2 p.Asp226Asn
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Cys159Tyr
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Cys408Ser
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Glu194Lys
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
- ADA2 p.Glu254Lys Uncertain significance Single submitter
-
ADA2 p.Glu258Gly
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Glu271Lys
Uncertain significance
Single submitter
Sneddon syndrome
-
ADA2 p.Glu489Asp
Conflicting
Single submitter
Sneddon syndrome
-
ADA2 p.Glu57Asp
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.His260Gln
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.His260Tyr
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.His335Pro
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ile214Thr
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ile371Phe
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ile382Met
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ile93Thr
Conflicting
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Leu124Val
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Leu188Val
Conflicting
Single submitter
autoinflammatory syndrome
-
ADA2 p.Leu451Phe
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Leu475Met
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Leu486Phe
Uncertain significance
Single submitter
Sneddon syndrome
-
ADA2 p.Leu52Val
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Lys481Asn
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Met232Thr
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Met445Lys
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Met460Leu
Uncertain significance
Single submitter
Sneddon syndrome
-
ADA2 p.Met64Arg
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Phe207Tyr
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Pro153Ser
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Pro193Leu
Conflicting
Single submitter
Sneddon syndrome
-
ADA2 p.Pro316Ser
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Pro344Ser
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Pro435Ala
Conflicting
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Pro435Ser
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ser156Pro
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ser215Thr
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ser291Leu
Conflicting
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ser333Tyr
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ser366Phe
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Ser488Cys
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Thr379Ser
Uncertain significance
Single submitter
autoinflammatory syndrome
-
ADA2 p.Thr380Ile
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Thr65Met
Conflicting
Single submitter
Sneddon syndrome
-
ADA2 p.Tyr236Cys
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Tyr242His
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Tyr253Cys
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Tyr397Ser
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Tyr456Cys
Pathogenic
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Tyr482Cys
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Val203Ala
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
- ADA2 p.Val203Gly Uncertain significance Single submitter
-
ADA2 p.Val223Leu
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Val325Met
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
-
ADA2 p.Val418Leu
Uncertain significance
Single submitter
deficiency of adenosine deaminase 2
- ADA2 p.Tyr130His Uncertain significance No assertion criteria
All ADA2 variants
Pathogenic 42
- c.882-2A>G Multiple submitters deficiency of adenosine deaminase 2
- c.973-2A>G Multiple submitters Sneddon syndrome
- p.Arg312Ter Multiple submitters Sneddon syndrome
- p.Gly358Arg Multiple submitters ADA2-related disorder
- p.Gly47Ala Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Gly47Arg Multiple submitters ADA2-related disorder
- p.Gly47Trp Multiple submitters deficiency of adenosine deaminase 2
- p.His434_Pro435insTer Multiple submitters deficiency of adenosine deaminase 2
- p.Met1Thr Multiple submitters deficiency of adenosine deaminase 2
- p.Ser265Ter Multiple submitters Sneddon syndrome
- p.Thr360Ala Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Tyr353fs Multiple submitters deficiency of adenosine deaminase 2
- c.1082-1113del Single submitter
- c.236_322+106del Single submitter deficiency of adenosine deaminase 2
- c.753+2T>A Single submitter deficiency of adenosine deaminase 2
- c.881+1G>A Single submitter deficiency of adenosine deaminase 2
- c.882-1G>A Single submitter deficiency of adenosine deaminase 2
- p.Arg49fs Single submitter deficiency of adenosine deaminase 2
- p.Asn53fs Single submitter deficiency of adenosine deaminase 2
- p.Asp347fs Single submitter Sneddon syndrome
- p.Asp454_Tyr456del Single submitter deficiency of adenosine deaminase 2
- p.Cys134Ter Single submitter deficiency of adenosine deaminase 2
- p.Cys13Ter Single submitter deficiency of adenosine deaminase 2
- p.Cys408Tyr Single submitter
- p.Glu328Asp Single submitter deficiency of adenosine deaminase 2
- p.Gly383Asp Single submitter deficiency of adenosine deaminase 2
- p.His91fs Single submitter deficiency of adenosine deaminase 2
- p.Ile245fs Single submitter deficiency of adenosine deaminase 2
- p.Met1Lys Single submitter deficiency of adenosine deaminase 2
- p.Met477fs Single submitter deficiency of adenosine deaminase 2
- p.Phe80fs Single submitter deficiency of adenosine deaminase 2
- p.Pro352fs Single submitter deficiency of adenosine deaminase 2
- p.Ser483fs Single submitter deficiency of adenosine deaminase 2
- p.Trp204Ter Single submitter deficiency of adenosine deaminase 2
- p.Trp362_Gln363delinsCysTer Single submitter deficiency of adenosine deaminase 2
- p.Trp362Ter Single submitter deficiency of adenosine deaminase 2
- p.Trp399Ter Single submitter deficiency of adenosine deaminase 2
- p.Tyr220Ter Single submitter deficiency of adenosine deaminase 2
- p.Tyr456Cys Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ala109Asp No assertion criteria deficiency of adenosine deaminase 2
- p.Phe212del No assertion criteria Sneddon syndrome
- p.Trp264Ser No assertion criteria deficiency of adenosine deaminase 2
Pathogenic/Likely pathogenic 13
- p.Ala221fs Multiple submitters deficiency of adenosine deaminase 2
- p.Arg169Gln Multiple submitters ADA2-related disorder ⚠
- p.Arg169Trp Multiple submitters Sneddon syndrome
- p.Asn370Lys Multiple submitters deficiency of adenosine deaminase 2
- p.Gly383Ser Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Gly47Val Multiple submitters deficiency of adenosine deaminase 2
- p.His112Gln Multiple submitters autoinflammatory syndrome
- p.Lys314fs Multiple submitters deficiency of adenosine deaminase 2
- p.Lys466fs Multiple submitters autoinflammatory syndrome
- p.Pro251= Multiple submitters deficiency of adenosine deaminase 2
- p.Pro251Leu Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Tyr453Cys Multiple submitters Sneddon syndrome ⚠
- p.Val458Asp Multiple submitters deficiency of adenosine deaminase 2
Likely pathogenic 28
- c.754-2A>G Multiple submitters deficiency of adenosine deaminase 2
- p.Arg306Ter Multiple submitters Sneddon syndrome
- c.1081+1G>T Single submitter deficiency of adenosine deaminase 2
- c.1082-2A>G Single submitter deficiency of adenosine deaminase 2
- c.1443-2A>G Single submitter deficiency of adenosine deaminase 2
- c.322+1G>A Single submitter deficiency of adenosine deaminase 2
- c.322+2T>A Single submitter deficiency of adenosine deaminase 2
- c.323-2A>G Single submitter deficiency of adenosine deaminase 2
- c.753+1G>A Single submitter deficiency of adenosine deaminase 2
- c.972+1G>C Single submitter Sneddon syndrome
- c.-46-108_542+142del Single submitter polyarteritis nodosa
- c.-47+2T>C Single submitter deficiency of adenosine deaminase 2
- p.Ala427fs Single submitter deficiency of adenosine deaminase 2
- p.Asp502Gly Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Gln474Ter Single submitter deficiency of adenosine deaminase 2
- p.Gly25fs Single submitter Sneddon syndrome
- p.Gly364Arg Single submitter
- p.Gly47Glu Single submitter deficiency of adenosine deaminase 2
- p.Gly48Trp Single submitter deficiency of adenosine deaminase 2
- p.His112Tyr Single submitter deficiency of adenosine deaminase 2
- p.Leu183Pro Single submitter Sneddon syndrome
- p.Lys401Ter Single submitter Sneddon syndrome
- p.Ser483Arg Single submitter deficiency of adenosine deaminase 2
- p.Trp123Cys Single submitter deficiency of adenosine deaminase 2
- p.Trp123Ter Single submitter deficiency of adenosine deaminase 2
- p.Tyr227fs Single submitter
- p.Asp329fs No assertion criteria
- p.Thr187Pro No assertion criteria deficiency of adenosine deaminase 2
Conflicting classifications of pathogenicity 28
- c.1239+19G>A Single submitter deficiency of adenosine deaminase 2
- c.1240-6G>A Single submitter autoinflammatory syndrome
- c.754-5C>T Single submitter autoinflammatory syndrome
- p.Ala357= Single submitter deficiency of adenosine deaminase 2
- p.Ala357Thr Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Arg34Trp Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Arg49= Single submitter autoinflammatory syndrome
- p.Arg9Trp Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Asn491fs Single submitter deficiency of adenosine deaminase 2
- p.Asp442= Single submitter Sneddon syndrome
- p.Glu489Asp Single submitter Sneddon syndrome ⚠
- p.Gly321Glu Single submitter autoinflammatory syndrome ⚠
- p.His91Arg Single submitter autoinflammatory syndrome ⚠
- p.Ile462= Single submitter autoinflammatory syndrome
- p.Ile93Thr Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Leu124= Single submitter Sneddon syndrome
- p.Leu16= Single submitter deficiency of adenosine deaminase 2
- p.Leu188Pro Single submitter Sneddon syndrome ⚠
- p.Leu188Val Single submitter autoinflammatory syndrome ⚠
- p.Met1Ile Single submitter deficiency of adenosine deaminase 2
- p.Phe229= Single submitter deficiency of adenosine deaminase 2
- p.Phe355Leu Single submitter autoinflammatory syndrome ⚠
- p.Pro106Ser Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Pro193Leu Single submitter Sneddon syndrome ⚠
- p.Pro435Ala Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ser291Leu Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Thr380dup Single submitter Sneddon syndrome
- p.Thr65Met Single submitter Sneddon syndrome ⚠
Benign 36
- c.1081+30C>T Multiple submitters
- c.1081+78G>A Multiple submitters
- c.1082-153T>C Multiple submitters
- c.1082-42_1082-16del Multiple submitters deficiency of adenosine deaminase 2
- c.1240-164G>C Multiple submitters
- c.1240-5C>G Multiple submitters deficiency of adenosine deaminase 2
- c.1442+119G>C Multiple submitters
- c.1442+11T>C Multiple submitters deficiency of adenosine deaminase 2
- c.1442+31G>A Multiple submitters
- c.323-33C>T Multiple submitters
- c.753+3866_753+3868del Multiple submitters
- c.753+3934T>G Multiple submitters
- c.754-55G>T Multiple submitters
- c.882-120G>A Multiple submitters
- c.882-130G>A Multiple submitters
- c.972+25G>A Multiple submitters
- c.972+46C>T Multiple submitters
- c.972+9T>C Multiple submitters deficiency of adenosine deaminase 2
- c.973-125G>A Multiple submitters
- c.973-132A>G Multiple submitters
- c.973-160A>G Multiple submitters
- c.973-69C>G Multiple submitters
- p.Asn53= Multiple submitters deficiency of adenosine deaminase 2
- p.Tyr453= Multiple submitters deficiency of adenosine deaminase 2
- c.1081+235_1081+236del Single submitter
- c.1082-1137T>C Single submitter
- c.1082-905G>A Single submitter
- c.753+109G>A Single submitter
- c.753+141A>T Single submitter
- c.753+3724_753+3729del Single submitter
- c.753+3730_753+3731insAT Single submitter
- c.753+4307C>T Single submitter
- c.753+4324T>C Single submitter
- c.753+98T>C Single submitter
- c.882-211G>C Single submitter
- c.-46-185dup Single submitter
Benign/Likely benign 8
- c.1081+18G>A Multiple submitters Sneddon syndrome
- c.542+7A>G Multiple submitters deficiency of adenosine deaminase 2
- c.882-11del Multiple submitters deficiency of adenosine deaminase 2
- p.Arg171Trp Multiple submitters autoinflammatory syndrome ⚠
- p.His335Arg Multiple submitters deficiency of adenosine deaminase 2
- p.Met309Ile Multiple submitters autoinflammatory syndrome
- p.Tyr220= Multiple submitters autoinflammatory syndrome
- p.Val349Ile Multiple submitters autoinflammatory syndrome
Likely benign 182
- c.1081+16G>T Multiple submitters deficiency of adenosine deaminase 2
- c.1082-10G>A Multiple submitters deficiency of adenosine deaminase 2
- c.1082-4T>G Multiple submitters deficiency of adenosine deaminase 2
- c.753+7C>T Multiple submitters Sneddon syndrome
- c.754-12del Multiple submitters deficiency of adenosine deaminase 2
- c.754-8C>T Multiple submitters deficiency of adenosine deaminase 2
- p.Arg230Gln Multiple submitters autoinflammatory syndrome
- p.Asn185= Multiple submitters deficiency of adenosine deaminase 2
- p.Asn239= Multiple submitters deficiency of adenosine deaminase 2
- p.Asp261= Multiple submitters deficiency of adenosine deaminase 2
- p.Glu234= Multiple submitters deficiency of adenosine deaminase 2
- p.Ile301= Multiple submitters deficiency of adenosine deaminase 2
- p.Ile382= Multiple submitters deficiency of adenosine deaminase 2
- p.Leu46= Multiple submitters deficiency of adenosine deaminase 2
- p.Leu475= Multiple submitters Sneddon syndrome
- p.Lys499= Multiple submitters deficiency of adenosine deaminase 2
- p.Phe24= Multiple submitters Sneddon syndrome
- p.Ser29= Multiple submitters deficiency of adenosine deaminase 2
- c.1081+10C>T Single submitter deficiency of adenosine deaminase 2
- c.1081+11G>A Single submitter deficiency of adenosine deaminase 2
- c.1081+12G>T Single submitter deficiency of adenosine deaminase 2
- c.1081+16G>A Single submitter deficiency of adenosine deaminase 2
- c.1081+17C>T Single submitter deficiency of adenosine deaminase 2
- c.1081+18G>T Single submitter deficiency of adenosine deaminase 2
- c.1081+19_1081+20insATCCCGCT Single submitter deficiency of adenosine deaminase 2
- c.1081+19A>C Single submitter deficiency of adenosine deaminase 2
- c.1081+20G>A Single submitter deficiency of adenosine deaminase 2
- c.1081+7C>T Single submitter deficiency of adenosine deaminase 2
- c.1081+8T>C Single submitter deficiency of adenosine deaminase 2
- c.1082-11C>T Single submitter deficiency of adenosine deaminase 2
- c.1082-12C>A Single submitter deficiency of adenosine deaminase 2
- c.1082-69GACCCATCCATCCCCCATGGAAGACCA[3] Single submitter deficiency of adenosine deaminase 2
- c.1239+10A>C Single submitter deficiency of adenosine deaminase 2
- c.1239+20C>T Single submitter deficiency of adenosine deaminase 2
- c.1239+9G>A Single submitter deficiency of adenosine deaminase 2
- c.1240-14C>G Single submitter deficiency of adenosine deaminase 2
- c.1240-15C>T Single submitter deficiency of adenosine deaminase 2
- c.1240-16C>T Single submitter deficiency of adenosine deaminase 2
- c.1240-19C>G Single submitter deficiency of adenosine deaminase 2
- c.1240-4G>A Single submitter deficiency of adenosine deaminase 2
- c.1240-4G>T Single submitter deficiency of adenosine deaminase 2
- c.1240-5_1240-4delinsGA Single submitter deficiency of adenosine deaminase 2
- c.1240-5C>T Single submitter deficiency of adenosine deaminase 2
- c.1240-8T>C Single submitter deficiency of adenosine deaminase 2
- c.1442+11_1442+12inv Single submitter deficiency of adenosine deaminase 2
- c.1442+20C>G Single submitter deficiency of adenosine deaminase 2
- c.1443-10C>A Single submitter deficiency of adenosine deaminase 2
- c.1443-13C>T Single submitter deficiency of adenosine deaminase 2
- c.1443-16C>T Single submitter deficiency of adenosine deaminase 2
- c.1443-18C>T Single submitter deficiency of adenosine deaminase 2
- c.1443-6C>G Single submitter deficiency of adenosine deaminase 2
- c.1443-8del Single submitter deficiency of adenosine deaminase 2
- c.322+14A>G Single submitter deficiency of adenosine deaminase 2
- c.322+15G>A Single submitter deficiency of adenosine deaminase 2
- c.322+9T>A Single submitter deficiency of adenosine deaminase 2
- c.323-10C>T Single submitter deficiency of adenosine deaminase 2
- c.323-11T>C Single submitter deficiency of adenosine deaminase 2
- c.323-13C>T Single submitter deficiency of adenosine deaminase 2
- c.323-16C>T Single submitter deficiency of adenosine deaminase 2
- c.323-19A>G Single submitter deficiency of adenosine deaminase 2
- c.323-8C>T Single submitter deficiency of adenosine deaminase 2
- c.542+11G>A Single submitter deficiency of adenosine deaminase 2
- c.542+18A>T Single submitter deficiency of adenosine deaminase 2
- c.542+7_542+12del Single submitter deficiency of adenosine deaminase 2
- c.543-13G>A Single submitter deficiency of adenosine deaminase 2
- c.543-14C>T Single submitter deficiency of adenosine deaminase 2
- c.543-18A>G Single submitter deficiency of adenosine deaminase 2
- c.753+13C>G Single submitter deficiency of adenosine deaminase 2
- c.753+14T>C Single submitter deficiency of adenosine deaminase 2
- c.753+20C>G Single submitter deficiency of adenosine deaminase 2
- c.753+20C>T Single submitter deficiency of adenosine deaminase 2
- c.754-15G>A Single submitter deficiency of adenosine deaminase 2
- c.754-20T>C Single submitter deficiency of adenosine deaminase 2
- c.754-4C>A Single submitter deficiency of adenosine deaminase 2
- c.881+12T>C Single submitter deficiency of adenosine deaminase 2
- c.881+16G>A Single submitter deficiency of adenosine deaminase 2
- c.881+7G>C Single submitter deficiency of adenosine deaminase 2
- c.882-13G>A Single submitter deficiency of adenosine deaminase 2
- c.882-13G>C Single submitter deficiency of adenosine deaminase 2
- c.882-13G>T Single submitter deficiency of adenosine deaminase 2
- c.882-17C>T Single submitter deficiency of adenosine deaminase 2
- c.882-18T>G Single submitter deficiency of adenosine deaminase 2
- c.882-19T>C Single submitter deficiency of adenosine deaminase 2
- c.882-9_882-6del Single submitter deficiency of adenosine deaminase 2
- c.972+10G>T Single submitter deficiency of adenosine deaminase 2
- c.972+7del Single submitter deficiency of adenosine deaminase 2
- c.972+8A>G Single submitter deficiency of adenosine deaminase 2
- c.973-11C>G Single submitter deficiency of adenosine deaminase 2
- c.973-15C>T Single submitter deficiency of adenosine deaminase 2
- c.973-18T>C Single submitter deficiency of adenosine deaminase 2
- c.973-20_973-16dup Single submitter deficiency of adenosine deaminase 2
- c.973-7C>T Single submitter deficiency of adenosine deaminase 2
- p.Ala247= Single submitter deficiency of adenosine deaminase 2
- p.Ala308= Single submitter deficiency of adenosine deaminase 2
- p.Ala35= Single submitter deficiency of adenosine deaminase 2
- p.Arg103= Single submitter deficiency of adenosine deaminase 2
- p.Arg34= Single submitter deficiency of adenosine deaminase 2
- p.Arg422= Single submitter deficiency of adenosine deaminase 2
- p.Arg9= Single submitter deficiency of adenosine deaminase 2
- p.Asn100= Single submitter deficiency of adenosine deaminase 2
- p.Asn174= Single submitter deficiency of adenosine deaminase 2
- p.Asn370= Single submitter deficiency of adenosine deaminase 2
- p.Asp179= Single submitter deficiency of adenosine deaminase 2
- p.Asp226= Single submitter deficiency of adenosine deaminase 2
- p.Asp368= Single submitter deficiency of adenosine deaminase 2
- p.Asp420= Single submitter deficiency of adenosine deaminase 2
- p.Glu262= Single submitter deficiency of adenosine deaminase 2
- p.Glu271= Single submitter deficiency of adenosine deaminase 2
- p.Glu278= Single submitter deficiency of adenosine deaminase 2
- p.Glu406= Single submitter deficiency of adenosine deaminase 2
- p.Glu457= Single submitter deficiency of adenosine deaminase 2
- p.Glu487= Single submitter deficiency of adenosine deaminase 2
- p.Glu56= Single submitter deficiency of adenosine deaminase 2
- p.Glu57= Single submitter deficiency of adenosine deaminase 2
- p.Gly108= Single submitter deficiency of adenosine deaminase 2
- p.Gly142= Single submitter deficiency of adenosine deaminase 2
- p.Gly25= Single submitter deficiency of adenosine deaminase 2
- p.Gly326= Single submitter deficiency of adenosine deaminase 2
- p.Gly331= Single submitter deficiency of adenosine deaminase 2
- p.Gly348= Single submitter deficiency of adenosine deaminase 2
- p.Gly385= Single submitter deficiency of adenosine deaminase 2
- p.Gly433= Single submitter deficiency of adenosine deaminase 2
- p.Gly464= Single submitter deficiency of adenosine deaminase 2
- p.Gly47= Single submitter deficiency of adenosine deaminase 2
- p.Gly48= Single submitter deficiency of adenosine deaminase 2
- p.Gly5= Single submitter
- p.His135= Single submitter deficiency of adenosine deaminase 2
- p.His327= Single submitter
- p.His356= Single submitter deficiency of adenosine deaminase 2
- p.His36= Single submitter deficiency of adenosine deaminase 2
- p.His434= Single submitter deficiency of adenosine deaminase 2
- p.Ile118= Single submitter deficiency of adenosine deaminase 2
- p.Ile288= Single submitter deficiency of adenosine deaminase 2
- p.Ile343= Single submitter deficiency of adenosine deaminase 2
- p.Ile403= Single submitter deficiency of adenosine deaminase 2
- p.Ile68= Single submitter deficiency of adenosine deaminase 2
- p.Leu113= Single submitter deficiency of adenosine deaminase 2
- p.Leu183= Single submitter deficiency of adenosine deaminase 2
- p.Leu324= Single submitter deficiency of adenosine deaminase 2
- p.Leu351= Single submitter deficiency of adenosine deaminase 2
- p.Leu37= Single submitter deficiency of adenosine deaminase 2
- p.Leu417= Single submitter deficiency of adenosine deaminase 2
- p.Leu485= Single submitter deficiency of adenosine deaminase 2
- p.Leu52= Single submitter deficiency of adenosine deaminase 2
- p.Lys338= Single submitter deficiency of adenosine deaminase 2
- p.Lys346= Single submitter deficiency of adenosine deaminase 2
- p.Lys401= Single submitter deficiency of adenosine deaminase 2
- p.Lys72= Single submitter deficiency of adenosine deaminase 2
- p.Lys90= Single submitter deficiency of adenosine deaminase 2
- p.Phe138= Single submitter deficiency of adenosine deaminase 2
- p.Phe148= Single submitter
- p.Phe235= Single submitter deficiency of adenosine deaminase 2
- p.Phe87= Single submitter
- p.Pro193= Single submitter deficiency of adenosine deaminase 2
- p.Pro316= Single submitter deficiency of adenosine deaminase 2
- p.Pro344= Single submitter deficiency of adenosine deaminase 2
- p.Pro392= Single submitter deficiency of adenosine deaminase 2
- p.Pro443= Single submitter deficiency of adenosine deaminase 2
- p.Pro81= Single submitter deficiency of adenosine deaminase 2
- p.Pro82= Single submitter deficiency of adenosine deaminase 2
- p.Ser205= Single submitter deficiency of adenosine deaminase 2
- p.Ser291= Single submitter deficiency of adenosine deaminase 2
- p.Ser439= Single submitter deficiency of adenosine deaminase 2
- p.Thr190= Single submitter Sneddon syndrome
- p.Thr198= Single submitter deficiency of adenosine deaminase 2
- p.Thr279= Single submitter deficiency of adenosine deaminase 2
- p.Thr317= Single submitter deficiency of adenosine deaminase 2
- p.Thr330= Single submitter deficiency of adenosine deaminase 2
- p.Thr379= Single submitter
- p.Thr484= Single submitter deficiency of adenosine deaminase 2
- p.Thr65= Single submitter deficiency of adenosine deaminase 2
- p.Tyr130= Single submitter deficiency of adenosine deaminase 2
- p.Tyr236= Single submitter deficiency of adenosine deaminase 2
- p.Tyr456= Single submitter deficiency of adenosine deaminase 2
- p.Val172= Single submitter deficiency of adenosine deaminase 2
- p.Val202= Single submitter deficiency of adenosine deaminase 2
- p.Val223= Single submitter deficiency of adenosine deaminase 2
- p.Val272= Single submitter deficiency of adenosine deaminase 2
- p.Val325= Single submitter deficiency of adenosine deaminase 2
- p.Val407= Single submitter deficiency of adenosine deaminase 2
- p.Val418= Single submitter deficiency of adenosine deaminase 2
- p.Val426= Single submitter deficiency of adenosine deaminase 2
Uncertain significance 248
- c.1442+6T>C Multiple submitters deficiency of adenosine deaminase 2
- c.542+5G>A Multiple submitters deficiency of adenosine deaminase 2
- c.882-3C>G Multiple submitters deficiency of adenosine deaminase 2
- p.Ala11Val Multiple submitters Sneddon syndrome ⚠
- p.Ala247Val Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Ala27Ser Multiple submitters Sneddon syndrome ⚠
- p.Ala27Thr Multiple submitters Sneddon syndrome ⚠
- p.Ala345Pro Multiple submitters autoinflammatory syndrome ⚠
- p.Ala35Val Multiple submitters Sneddon syndrome ⚠
- p.Ala69Thr Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Arg154Cys Multiple submitters autoinflammatory syndrome ⚠
- p.Arg154His Multiple submitters Sneddon syndrome ⚠
- p.Arg230Trp Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Arg306Gln Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Arg306Gly Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Arg45Gln Multiple submitters Sneddon syndrome ⚠
- p.Arg45Gly Multiple submitters autoinflammatory syndrome ⚠
- p.Arg45Trp Multiple submitters Sneddon syndrome ⚠
- p.Arg49Trp Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Arg9Gln Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Asn423Lys Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Asn60Ser Multiple submitters Sneddon syndrome ⚠
- p.Asp329Asn Multiple submitters Sneddon syndrome ⚠
- p.Asp336Gly Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Asp373Val Multiple submitters Sneddon syndrome ⚠
- p.Asp4Asn Multiple submitters Sneddon syndrome ⚠
- p.Gln145His Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Gln145Pro Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Gln88His Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Gln97Glu Multiple submitters Sneddon syndrome ⚠
- p.Glu262Lys Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Glu489Gln Multiple submitters Sneddon syndrome ⚠
- p.Glu489Lys Multiple submitters autoinflammatory syndrome ⚠
- p.Glu8Lys Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Gly216Val Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Gly25Cys Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Gly450Ala Multiple submitters Sneddon syndrome ⚠
- p.Gly450Ser Multiple submitters Sneddon syndrome ⚠
- p.Gly48Ala Multiple submitters Sneddon syndrome ⚠
- p.Gly48Glu Multiple submitters Sneddon syndrome ⚠
- p.Gly48Val Multiple submitters Sneddon syndrome ⚠
- p.His114Gln Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.His293Arg Multiple submitters Sneddon syndrome ⚠
- p.His391Arg Multiple submitters Sneddon syndrome ⚠
- p.Ile196Thr Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Ile214Val Multiple submitters Sneddon syndrome ⚠
- p.Ile30Val Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Ile367Leu Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Ile405Leu Multiple submitters autoinflammatory syndrome ⚠
- p.Ile405Thr Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Ile462Thr Multiple submitters ADA2-related disorder ⚠
- p.Leu28Pro Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Leu39Met Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Lys511Gln Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Met105Val Multiple submitters Sneddon syndrome ⚠
- p.Met121Ile Multiple submitters Sneddon syndrome ⚠
- p.Met121Thr Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Met121Val Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Met243Ile Multiple submitters Sneddon syndrome ⚠
- p.Met436Thr Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Met436Val Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Met445Ile Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Met477Thr Multiple submitters Sneddon syndrome ⚠
- p.Met84Thr Multiple submitters ⚠
- p.Met84Val Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Phe211Tyr Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Phe276Ser Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Pro151Leu Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Ser205Leu Multiple submitters Sneddon syndrome ⚠
- p.Ser452Cys Multiple submitters Sneddon syndrome ⚠
- p.Thr120Ile Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Thr139Ala Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Thr209Ile Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Thr213Ile Multiple submitters Sneddon syndrome ⚠
- p.Thr317Met Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Thr330Ala Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Thr492Ala Multiple submitters ADA2-related disorder ⚠
- p.Trp204Cys Multiple submitters Sneddon syndrome ⚠
- p.Val119Met Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Val458Ala Multiple submitters deficiency of adenosine deaminase 2 ⚠
- p.Val458Gly Multiple submitters deficiency of adenosine deaminase 2 ⚠
- c.1442+3G>A Single submitter deficiency of adenosine deaminase 2
- c.1443-3C>T Single submitter deficiency of adenosine deaminase 2
- c.542+3G>A Single submitter deficiency of adenosine deaminase 2
- c.542+4A>T Single submitter deficiency of adenosine deaminase 2
- c.881+6A>T Single submitter deficiency of adenosine deaminase 2
- c.972+19A>C Single submitter Sneddon syndrome
- c.972+6C>A Single submitter deficiency of adenosine deaminase 2
- c.-7C>G Single submitter
- p.Ala110Val Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ala149Val Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ala18Val Single submitter ⚠
- p.Ala221Val Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ala302Thr Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ala340Ser Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ala345Thr Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ala387Thr Single submitter Sneddon syndrome ⚠
- p.Ala89Val Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Arg103Lys Single submitter autoinflammatory syndrome ⚠
- p.Arg103Trp Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Arg126Lys Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Arg126Ser Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Arg141Lys Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Arg312Gln Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Arg312Pro Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Arg34Gln Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Arg34Pro Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Arg395Lys Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Arg62Ser Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Arg76Gly Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Asn100Tyr Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Asn127His Single submitter Sneddon syndrome ⚠
- p.Asn127Ser Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Asn378Lys Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Asp122Val Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Asp167Gly Single submitter ⚠
- p.Asp226Asn Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Asp238Gly Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Asp292Asn Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Asp31His Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Asp323Asn Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Asp347Asn Single submitter autoinflammatory syndrome ⚠
- p.Asp454Asn Single submitter Sneddon syndrome ⚠
- p.Asp4Tyr Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Cys137Ser Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Cys137Tyr Single submitter Sneddon syndrome ⚠
- p.Cys159Tyr Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Cys408Ser Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Glu157Ala Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Glu194Lys Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Glu254Lys Single submitter ⚠
- p.Glu258Gly Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Glu271Lys Single submitter Sneddon syndrome ⚠
- p.Glu57Asp Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Glu94Asp Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Gly25Ser Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Gly285Glu Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Gly285Val Single submitter Sneddon syndrome ⚠
- p.Gly321Arg Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Gly326Arg Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Gly326Glu Single submitter deficiency of adenosine deaminase 2 ⚠
- p.His133Asp Single submitter deficiency of adenosine deaminase 2 ⚠
- p.His135Pro Single submitter deficiency of adenosine deaminase 2 ⚠
- p.His260Gln Single submitter deficiency of adenosine deaminase 2 ⚠
- p.His260Tyr Single submitter deficiency of adenosine deaminase 2 ⚠
- p.His327Arg Single submitter deficiency of adenosine deaminase 2 ⚠
- p.His327Pro Single submitter deficiency of adenosine deaminase 2 ⚠
- p.His335Cys Single submitter deficiency of adenosine deaminase 2
- p.His335Pro Single submitter deficiency of adenosine deaminase 2 ⚠
- p.His391Gln Single submitter deficiency of adenosine deaminase 2 ⚠
- p.His424Arg Single submitter deficiency of adenosine deaminase 2 ⚠
- p.His434Leu Single submitter deficiency of adenosine deaminase 2 ⚠
- p.His85Asp Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ile116Thr Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ile118Leu Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ile196Val Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ile214Thr Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ile245Met Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ile284Leu Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ile286Val Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ile301Val Single submitter Sneddon syndrome ⚠
- p.Ile367Thr Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ile367Val Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ile371Phe Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ile382Met Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ile438Lys Single submitter deficiency of adenosine deaminase 2
- p.Ile480Thr Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ile480Val Single submitter ⚠
- p.Ile505Val Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ile79Leu Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Leu113Ile Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Leu124Val Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Leu249Arg Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Leu451Phe Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Leu475Met Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Leu486Phe Single submitter Sneddon syndrome ⚠
- p.Leu52Val Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Leu78= Single submitter autoinflammatory syndrome
- p.Lys338Arg Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Lys481Asn Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Lys72Arg Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Met21Val Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Met232Thr Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Met243Val Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Met309Thr Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Met430Arg Single submitter ⚠
- p.Met445Lys Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Met445Thr Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Met460Leu Single submitter Sneddon syndrome ⚠
- p.Met460Val Single submitter Sneddon syndrome ⚠
- p.Met477Ile Single submitter Sneddon syndrome ⚠
- p.Met64Arg Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Phe207Cys Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Phe207Ser Single submitter ⚠
- p.Phe207Tyr Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Phe212Ser Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Phe224Leu Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Phe504fs Single submitter deficiency of adenosine deaminase 2
- p.Pro106Arg Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Pro153Ser Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Pro316Ser Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Pro344Ser Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Pro409Ser Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Pro435Ser Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Pro443Arg Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ser156Pro Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ser181= Single submitter deficiency of adenosine deaminase 2
- p.Ser215Thr Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ser256Asn Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ser295Phe Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ser333Tyr Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ser366Phe Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ser452Pro Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Ser488Cys Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Thr129= Single submitter autoinflammatory syndrome
- p.Thr209Asn Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Thr330Ser Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Thr33Ile Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Thr379Ala Single submitter Sneddon syndrome ⚠
- p.Thr379Ser Single submitter autoinflammatory syndrome ⚠
- p.Thr380Ile Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Thr428Ile Single submitter autoinflammatory syndrome ⚠
- p.Trp501_Phe504delinsGluLeu Single submitter deficiency of adenosine deaminase 2
- p.Trp501Arg Single submitter ⚠
- p.Trp501Ter Single submitter deficiency of adenosine deaminase 2
- p.Tyr236Cys Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Tyr242His Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Tyr253Cys Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Tyr353Asn Single submitter deficiency of adenosine deaminase 2
- p.Tyr397Ser Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Tyr453His Single submitter Sneddon syndrome ⚠
- p.Tyr482Cys Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Val172Leu Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Val189Leu Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Val19= Single submitter Sneddon syndrome
- p.Val203Ala Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Val203Gly Single submitter ⚠
- p.Val223Leu Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Val240Met Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Val300Leu Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Val325Met Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Val418Leu Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Val426Ile Single submitter Sneddon syndrome ⚠
- p.Val508Met Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Val51Leu Single submitter deficiency of adenosine deaminase 2 ⚠
- p.Arg131fs No assertion criteria
- p.Lys267Gln No assertion criteria Deficiency of ADA2 ⚠
- p.Tyr130His No assertion criteria ⚠