AMPD3 — 216 ClinVar variants
All ClinVar germline AMPD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 133 flagged for review →
1 Pathogenic · 3 Likely pathogenic · 3 Conflicting · 16 Benign · 6 Benign/Likely benign · 12 Likely benign · 175 Uncertain significance
Full AMPD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 133
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
AMPD3 p.Val311Leu
Conflicting
Single submitter
Erythrocyte AMP deaminase deficiency
Predictors lean, ClinVar uncertain 93
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
AMPD3 p.Asn279Ser
Uncertain significance
Multiple submitters
Erythrocyte AMP deaminase deficiency
-
AMPD3 p.Ile505Val
Uncertain significance
Multiple submitters
Erythrocyte AMP deaminase deficiency
-
AMPD3 p.Met420Val
Uncertain significance
Multiple submitters
Erythrocyte AMP deaminase deficiency
-
AMPD3 p.Met631Leu
Uncertain significance
Multiple submitters
Erythrocyte AMP deaminase deficiency
- AMPD3 p.Ala169Thr Uncertain significance Single submitter
- AMPD3 p.Ala186Glu Uncertain significance Single submitter
- AMPD3 p.Ala186Val Uncertain significance Single submitter
-
AMPD3 p.Ala37Val
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
- AMPD3 p.Ala590Thr Uncertain significance Single submitter
- AMPD3 p.Ala72Thr Uncertain significance Single submitter
- AMPD3 p.Arg132Gln Uncertain significance Single submitter
- AMPD3 p.Arg132Leu Uncertain significance Single submitter
-
AMPD3 p.Arg162Gln
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
- AMPD3 p.Arg162Trp Uncertain significance Single submitter
-
AMPD3 p.Arg167Leu
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
- AMPD3 p.Arg167Trp Uncertain significance Single submitter
- AMPD3 p.Arg172Cys Uncertain significance Single submitter
- AMPD3 p.Arg172His Uncertain significance Single submitter
- AMPD3 p.Arg175Gln Uncertain significance Single submitter
- AMPD3 p.Arg306Gln Uncertain significance Single submitter
- AMPD3 p.Arg30Gln Uncertain significance Single submitter
- AMPD3 p.Arg349Gln Uncertain significance Single submitter
- AMPD3 p.Arg380Trp Uncertain significance Single submitter
- AMPD3 p.Arg426Gln Uncertain significance Single submitter
- AMPD3 p.Arg439Gln Uncertain significance Single submitter
- AMPD3 p.Arg511Gln Uncertain significance Single submitter
- AMPD3 p.Arg573His Uncertain significance Single submitter
- AMPD3 p.Arg584Gln Uncertain significance Single submitter
- AMPD3 p.Arg584Trp Uncertain significance Single submitter
- AMPD3 p.Arg730Gln Uncertain significance Single submitter
- AMPD3 p.Arg738Gln Uncertain significance Single submitter
- AMPD3 p.Arg738Leu Uncertain significance Single submitter
- AMPD3 p.Arg738Trp Uncertain significance Single submitter
- AMPD3 p.Asn279Lys Uncertain significance Single submitter
-
AMPD3 p.Asn506Asp
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
-
AMPD3 p.Asn570Ser
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
- AMPD3 p.Asn748Ser Uncertain significance Single submitter
-
AMPD3 p.Asp534Asn
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
- AMPD3 p.Asp539Asn Uncertain significance Single submitter
-
AMPD3 p.Asp95Asn
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
- AMPD3 p.Glu149Gln Uncertain significance Single submitter
- AMPD3 p.Glu70Gly Uncertain significance Single submitter
- AMPD3 p.Gly413Glu Uncertain significance Single submitter
- AMPD3 p.Gly577Val Uncertain significance Single submitter
-
AMPD3 p.Gly591Ser
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
- AMPD3 p.Gly723Glu Uncertain significance Single submitter
- AMPD3 p.His171Tyr Uncertain significance Single submitter
- AMPD3 p.His288Gln Uncertain significance Single submitter
- AMPD3 p.Ile135Val Uncertain significance Single submitter
- AMPD3 p.Leu355Pro Uncertain significance Single submitter
- AMPD3 p.Leu369Phe Uncertain significance Single submitter
- AMPD3 p.Leu369Pro Uncertain significance Single submitter
-
AMPD3 p.Leu517Val
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
- AMPD3 p.Leu652Gln Uncertain significance Single submitter
-
AMPD3 p.Lys27Asn
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
-
AMPD3 p.Lys327Asn
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
- AMPD3 p.Met160Thr Uncertain significance Single submitter
- AMPD3 p.Met224Val Uncertain significance Single submitter
-
AMPD3 p.Met364Val
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
- AMPD3 p.Met420Ile Uncertain significance Single submitter
- AMPD3 p.Met562Ile Uncertain significance Single submitter
- AMPD3 p.Met757Val Uncertain significance Single submitter
- AMPD3 p.Phe308Ile Uncertain significance Single submitter
- AMPD3 p.Phe457Leu Uncertain significance Single submitter
-
AMPD3 p.Phe523Leu
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
- AMPD3 p.Pro100Leu Uncertain significance Single submitter
- AMPD3 p.Pro2Leu Uncertain significance Single submitter
- AMPD3 p.Pro474Leu Uncertain significance Single submitter
-
AMPD3 p.Pro499Leu
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
- AMPD3 p.Pro628Thr Uncertain significance Single submitter
- AMPD3 p.Pro724His Uncertain significance Single submitter
-
AMPD3 p.Pro91Ser
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
- AMPD3 p.Pro99Leu Uncertain significance Single submitter
- AMPD3 p.Ser598Phe Uncertain significance Single submitter
-
AMPD3 p.Ser661Phe
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
-
AMPD3 p.Thr109Ala
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
- AMPD3 p.Thr121Lys Uncertain significance Single submitter
- AMPD3 p.Thr344Ile Uncertain significance Single submitter
- AMPD3 p.Thr504Pro Uncertain significance Single submitter
- AMPD3 p.Thr71Asn Uncertain significance Single submitter
- AMPD3 p.Trp456Gly Uncertain significance Single submitter
- AMPD3 p.Tyr165Cys Uncertain significance Single submitter
- AMPD3 p.Tyr273Cys Uncertain significance Single submitter
- AMPD3 p.Tyr309Cys Uncertain significance Single submitter
-
AMPD3 p.Tyr463Phe
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
- AMPD3 p.Tyr563Cys Uncertain significance Single submitter
- AMPD3 p.Tyr622Cys Uncertain significance Single submitter
- AMPD3 p.Tyr623His Uncertain significance Single submitter
- AMPD3 p.Val256Met Uncertain significance Single submitter
-
AMPD3 p.Val311Met
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
- AMPD3 p.Val424Ile Uncertain significance Single submitter
-
AMPD3 p.Val701Leu
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
-
AMPD3 p.Val701Met
Uncertain significance
No assertion criteria
myoepithelial tumor
Predictors split 39
The independent predictors disagree with each other — read with care.
-
AMPD3 p.Arg185Trp
Benign/Likely benign
Multiple submitters
Erythrocyte AMP deaminase deficiency
-
AMPD3 p.Arg426Trp
Uncertain significance
Multiple submitters
Erythrocyte AMP deaminase deficiency
-
AMPD3 p.Gly577Ser
Uncertain significance
Multiple submitters
Erythrocyte AMP deaminase deficiency
-
AMPD3 p.Ser482Leu
Uncertain significance
Multiple submitters
Erythrocyte AMP deaminase deficiency
-
AMPD3 p.Thr339Met
Uncertain significance
Multiple submitters
Erythrocyte AMP deaminase deficiency
-
AMPD3 p.Tyr435Cys
Uncertain significance
Multiple submitters
Erythrocyte AMP deaminase deficiency
-
AMPD3 p.Ala756Gly
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
-
AMPD3 p.Arg331Cys
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
- AMPD3 p.Arg351Trp Uncertain significance Single submitter
-
AMPD3 p.Arg356Trp
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
-
AMPD3 p.Arg3Trp
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
- AMPD3 p.Arg445Cys Uncertain significance Single submitter
-
AMPD3 p.Arg468Cys
Uncertain significance
Single submitter
adenosine monophosphate deaminase deficiency
- AMPD3 p.Arg576Cys Uncertain significance Single submitter
-
AMPD3 p.Asn325Ser
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
-
AMPD3 p.His363Tyr
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
- AMPD3 p.Ile143Asn Uncertain significance Single submitter
- AMPD3 p.Ile629Val Uncertain significance Single submitter
-
AMPD3 p.Leu19Pro
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
- AMPD3 p.Leu238Arg Uncertain significance Single submitter
- AMPD3 p.Leu765Trp Uncertain significance Single submitter
- AMPD3 p.Lys301Arg Uncertain significance Single submitter
- AMPD3 p.Lys392Arg Uncertain significance Single submitter
- AMPD3 p.Lys461Asn Uncertain significance Single submitter
- AMPD3 p.Phe583Leu Uncertain significance Single submitter
- AMPD3 p.Pro204Arg Uncertain significance Single submitter
- AMPD3 p.Pro243Leu Uncertain significance Single submitter
-
AMPD3 p.Pro249Ser
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
- AMPD3 p.Ser103Gly Uncertain significance Single submitter
-
AMPD3 p.Ser118Phe
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
-
AMPD3 p.Ser154Gly
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
- AMPD3 p.Ser391Phe Uncertain significance Single submitter
- AMPD3 p.Ser446Arg Uncertain significance Single submitter
- AMPD3 p.Ser704Gly Uncertain significance Single submitter
- AMPD3 p.Ser707Leu Uncertain significance Single submitter
-
AMPD3 p.Thr121Met
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
- AMPD3 p.Thr521Met Uncertain significance Single submitter
-
AMPD3 p.Thr580Met
Uncertain significance
Single submitter
Erythrocyte AMP deaminase deficiency
- AMPD3 p.Val568Met Uncertain significance Single submitter
All AMPD3 variants
Pathogenic 1
- p.Arg573Cys Single submitter Erythrocyte AMP deaminase deficiency
Likely pathogenic 3
- c.809+1G>C Single submitter Erythrocyte AMP deaminase deficiency
- p.Asn217fs Single submitter Erythrocyte AMP deaminase deficiency
- p.Ile606fs Single submitter Erythrocyte AMP deaminase deficiency
Conflicting classifications of pathogenicity 3
- c.426+8G>A Single submitter Erythrocyte AMP deaminase deficiency
- p.His608= Single submitter Erythrocyte AMP deaminase deficiency
- p.Val311Leu Single submitter Erythrocyte AMP deaminase deficiency ⚠
Benign 16
- c.222-17T>C Multiple submitters
- c.-103T>C Multiple submitters Erythrocyte AMP deaminase deficiency
- c.-82T>G Multiple submitters Erythrocyte AMP deaminase deficiency
- c.-88G>T Multiple submitters Erythrocyte AMP deaminase deficiency
- c.*1052A>G Multiple submitters Erythrocyte AMP deaminase deficiency
- c.*1070A>G Multiple submitters Erythrocyte AMP deaminase deficiency
- c.*1090A>G Multiple submitters Erythrocyte AMP deaminase deficiency
- c.*1585G>A Multiple submitters Erythrocyte AMP deaminase deficiency
- c.*694A>G Multiple submitters Erythrocyte AMP deaminase deficiency
- p.Arg356Gln Multiple submitters
- p.Pro191= Multiple submitters Erythrocyte AMP deaminase deficiency
- p.Tyr563= Multiple submitters Erythrocyte AMP deaminase deficiency
- c.-239G>C Single submitter Erythrocyte AMP deaminase deficiency
- c.-303C>T Single submitter Erythrocyte AMP deaminase deficiency
- c.-312A>G Single submitter Erythrocyte AMP deaminase deficiency
- p.Phe501= Single submitter
Benign/Likely benign 6
- p.Ala320= Multiple submitters Erythrocyte AMP deaminase deficiency
- p.Arg185Trp Multiple submitters Erythrocyte AMP deaminase deficiency ⚠
- p.Gly361Ser Multiple submitters Erythrocyte AMP deaminase deficiency
- p.His223= Multiple submitters Erythrocyte AMP deaminase deficiency
- p.His377= Multiple submitters Erythrocyte AMP deaminase deficiency
- p.Tyr455His Multiple submitters Erythrocyte AMP deaminase deficiency
Likely benign 12
- p.Tyr558= Multiple submitters Erythrocyte AMP deaminase deficiency
- p.His199= Single submitter
- p.Pro191Leu Single submitter
- c.1135-6C>A No assertion criteria AMPD3-related disorder
- c.1431-3C>T No assertion criteria AMPD3-related disorder
- c.1431-7C>A No assertion criteria AMPD3-related disorder
- c.-6+944G>T No assertion criteria AMPD3-related disorder
- p.Ala21= No assertion criteria AMPD3-related disorder
- p.Asn292= No assertion criteria AMPD3-related disorder
- p.Asp478= No assertion criteria AMPD3-related disorder
- p.Gln434= No assertion criteria AMPD3-related disorder
- p.Thr272= No assertion criteria AMPD3-related disorder
Uncertain significance 175
- c.1135-5C>A Multiple submitters Erythrocyte AMP deaminase deficiency
- c.1135-6C>G Multiple submitters Erythrocyte AMP deaminase deficiency
- c.1267-3C>T Multiple submitters Erythrocyte AMP deaminase deficiency
- c.*287T>C Multiple submitters Erythrocyte AMP deaminase deficiency
- c.*75C>T Multiple submitters Erythrocyte AMP deaminase deficiency
- p.Ala141= Multiple submitters Erythrocyte AMP deaminase deficiency
- p.Arg426Trp Multiple submitters Erythrocyte AMP deaminase deficiency ⚠
- p.Arg576= Multiple submitters Erythrocyte AMP deaminase deficiency
- p.Asn279Ser Multiple submitters Erythrocyte AMP deaminase deficiency ⚠
- p.Gly577Ser Multiple submitters Erythrocyte AMP deaminase deficiency ⚠
- p.Ile505Val Multiple submitters Erythrocyte AMP deaminase deficiency ⚠
- p.Met420Val Multiple submitters Erythrocyte AMP deaminase deficiency ⚠
- p.Met631Leu Multiple submitters Erythrocyte AMP deaminase deficiency ⚠
- p.Ser482Leu Multiple submitters Erythrocyte AMP deaminase deficiency ⚠
- p.Thr339Met Multiple submitters Erythrocyte AMP deaminase deficiency ⚠
- p.Tyr435Cys Multiple submitters Erythrocyte AMP deaminase deficiency ⚠
- c.1135-5C>T Single submitter Erythrocyte AMP deaminase deficiency
- c.1267-13C>A Single submitter Erythrocyte AMP deaminase deficiency
- c.1557+834G>A Single submitter
- c.427-13C>T Single submitter Erythrocyte AMP deaminase deficiency
- c.939+13C>T Single submitter Erythrocyte AMP deaminase deficiency
- c.-116A>C Single submitter Erythrocyte AMP deaminase deficiency
- c.-157T>C Single submitter
- c.-200G>A Single submitter Erythrocyte AMP deaminase deficiency
- c.-240A>G Single submitter Erythrocyte AMP deaminase deficiency
- c.-25C>T Single submitter Erythrocyte AMP deaminase deficiency
- c.-263T>C Single submitter Erythrocyte AMP deaminase deficiency
- c.-5-6T>G Single submitter Erythrocyte AMP deaminase deficiency
- c.-9G>A Single submitter Erythrocyte AMP deaminase deficiency
- c.*1221T>C Single submitter Erythrocyte AMP deaminase deficiency
- c.*1245G>A Single submitter Erythrocyte AMP deaminase deficiency
- c.*1297T>C Single submitter Erythrocyte AMP deaminase deficiency
- c.*1381C>T Single submitter Erythrocyte AMP deaminase deficiency
- c.*1520A>G Single submitter Erythrocyte AMP deaminase deficiency
- c.*1536T>C Single submitter Erythrocyte AMP deaminase deficiency
- c.*1681T>C Single submitter Erythrocyte AMP deaminase deficiency
- c.*327G>C Single submitter Erythrocyte AMP deaminase deficiency
- c.*431A>G Single submitter Erythrocyte AMP deaminase deficiency
- c.*603G>A Single submitter Erythrocyte AMP deaminase deficiency
- c.*771C>T Single submitter Erythrocyte AMP deaminase deficiency
- c.*845A>G Single submitter Erythrocyte AMP deaminase deficiency
- p.Ala166= Single submitter Erythrocyte AMP deaminase deficiency
- p.Ala169Thr Single submitter ⚠
- p.Ala186Glu Single submitter ⚠
- p.Ala186Val Single submitter ⚠
- p.Ala37Val Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Ala590Thr Single submitter ⚠
- p.Ala72Thr Single submitter ⚠
- p.Ala756Gly Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Arg132Gln Single submitter ⚠
- p.Arg132Leu Single submitter ⚠
- p.Arg162Gln Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Arg162Trp Single submitter ⚠
- p.Arg167Leu Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Arg167Trp Single submitter ⚠
- p.Arg172Cys Single submitter ⚠
- p.Arg172His Single submitter ⚠
- p.Arg175Gln Single submitter ⚠
- p.Arg306Gln Single submitter ⚠
- p.Arg30Gln Single submitter ⚠
- p.Arg331Cys Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Arg349Gln Single submitter ⚠
- p.Arg351Trp Single submitter ⚠
- p.Arg356Trp Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Arg380Trp Single submitter ⚠
- p.Arg3Trp Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Arg426Gln Single submitter ⚠
- p.Arg439= Single submitter Erythrocyte AMP deaminase deficiency
- p.Arg439Gln Single submitter ⚠
- p.Arg445Cys Single submitter ⚠
- p.Arg468Cys Single submitter adenosine monophosphate deaminase deficiency ⚠
- p.Arg511Gln Single submitter ⚠
- p.Arg573His Single submitter ⚠
- p.Arg576Cys Single submitter ⚠
- p.Arg584Gln Single submitter ⚠
- p.Arg584Trp Single submitter ⚠
- p.Arg730Gln Single submitter ⚠
- p.Arg738Gln Single submitter ⚠
- p.Arg738Leu Single submitter ⚠
- p.Arg738Trp Single submitter ⚠
- p.Asn234= Single submitter Erythrocyte AMP deaminase deficiency
- p.Asn279Lys Single submitter ⚠
- p.Asn325Ser Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Asn506Asp Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Asn570Ser Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Asn748Ser Single submitter ⚠
- p.Asp360= Single submitter Erythrocyte AMP deaminase deficiency
- p.Asp534Asn Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Asp539Asn Single submitter ⚠
- p.Asp95Asn Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Glu149Gln Single submitter ⚠
- p.Glu70Gly Single submitter ⚠
- p.Gly413Glu Single submitter ⚠
- p.Gly577Val Single submitter ⚠
- p.Gly591Ser Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Gly723Glu Single submitter ⚠
- p.His171Tyr Single submitter ⚠
- p.His288Gln Single submitter ⚠
- p.His363Tyr Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Ile135Val Single submitter ⚠
- p.Ile143Asn Single submitter ⚠
- p.Ile629Val Single submitter ⚠
- p.Leu19Pro Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Leu238Arg Single submitter ⚠
- p.Leu355Pro Single submitter ⚠
- p.Leu369Phe Single submitter ⚠
- p.Leu369Pro Single submitter ⚠
- p.Leu517Val Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Leu652Gln Single submitter ⚠
- p.Leu706= Single submitter Erythrocyte AMP deaminase deficiency
- p.Leu765Trp Single submitter ⚠
- p.Lys153= Single submitter Erythrocyte AMP deaminase deficiency
- p.Lys27Asn Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Lys301Arg Single submitter ⚠
- p.Lys327Asn Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Lys392Arg Single submitter ⚠
- p.Lys461Asn Single submitter ⚠
- p.Lys484= Single submitter Erythrocyte AMP deaminase deficiency
- p.Met160Thr Single submitter ⚠
- p.Met224Val Single submitter ⚠
- p.Met364Val Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Met420Ile Single submitter ⚠
- p.Met562Ile Single submitter ⚠
- p.Met757Val Single submitter ⚠
- p.Phe308Ile Single submitter ⚠
- p.Phe457Leu Single submitter ⚠
- p.Phe523Leu Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Phe583Leu Single submitter ⚠
- p.Pro100Leu Single submitter ⚠
- p.Pro200= Single submitter Erythrocyte AMP deaminase deficiency
- p.Pro204Arg Single submitter ⚠
- p.Pro243Leu Single submitter ⚠
- p.Pro249Ser Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Pro2Leu Single submitter ⚠
- p.Pro474Leu Single submitter ⚠
- p.Pro499Leu Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Pro628Thr Single submitter ⚠
- p.Pro724His Single submitter ⚠
- p.Pro91Ser Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Pro99Leu Single submitter ⚠
- p.Ser103Gly Single submitter ⚠
- p.Ser118Phe Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Ser136= Single submitter Erythrocyte AMP deaminase deficiency
- p.Ser154Gly Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Ser295= Single submitter Erythrocyte AMP deaminase deficiency
- p.Ser391Phe Single submitter ⚠
- p.Ser446Arg Single submitter ⚠
- p.Ser538= Single submitter Erythrocyte AMP deaminase deficiency
- p.Ser598Phe Single submitter ⚠
- p.Ser661Phe Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Ser704Gly Single submitter ⚠
- p.Ser707Leu Single submitter ⚠
- p.Thr109Ala Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Thr121Lys Single submitter ⚠
- p.Thr121Met Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Thr344Ile Single submitter ⚠
- p.Thr504Pro Single submitter ⚠
- p.Thr521Met Single submitter ⚠
- p.Thr580Met Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Thr71Asn Single submitter ⚠
- p.Thr763= Single submitter Erythrocyte AMP deaminase deficiency
- p.Trp456Gly Single submitter ⚠
- p.Tyr165Cys Single submitter ⚠
- p.Tyr273Cys Single submitter ⚠
- p.Tyr309Cys Single submitter ⚠
- p.Tyr463Phe Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Tyr563Cys Single submitter ⚠
- p.Tyr622Cys Single submitter ⚠
- p.Tyr623His Single submitter ⚠
- p.Val256Met Single submitter ⚠
- p.Val311Met Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Val424Ile Single submitter ⚠
- p.Val568Met Single submitter ⚠
- p.Val701Leu Single submitter Erythrocyte AMP deaminase deficiency ⚠
- p.Val701Met No assertion criteria myoepithelial tumor ⚠