AMY2A — 71 ClinVar variants
All ClinVar germline AMY2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
1 Benign · 3 Likely benign · 67 Uncertain significance
Full AMY2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
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 lean, ClinVar uncertain 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AMY2A p.Ala112Asp Uncertain significance Single submitter
- AMY2A p.Ala121Thr Uncertain significance Single submitter
- AMY2A p.Ala124Gly Uncertain significance Single submitter
- AMY2A p.Arg210Gly Uncertain significance Single submitter
- AMY2A p.Arg210Lys Uncertain significance Single submitter
- AMY2A p.Arg413Cys Uncertain significance Single submitter
- AMY2A p.Arg413Leu Uncertain significance Single submitter
- AMY2A p.Asn120Ser Uncertain significance Single submitter
- AMY2A p.Asn90Ser Uncertain significance Single submitter
- AMY2A p.Asp182Gly Uncertain significance Single submitter
- AMY2A p.Asp368Tyr Uncertain significance Single submitter
- AMY2A p.Gly148Ala Uncertain significance Single submitter
- AMY2A p.Gly208Glu Uncertain significance Single submitter
- AMY2A p.Gly278Ser Uncertain significance Single submitter
- AMY2A p.His401Leu Uncertain significance Single submitter
- AMY2A p.Ile39Thr Uncertain significance Single submitter
- AMY2A p.Ile411Asn Uncertain significance Single submitter
- AMY2A p.Leu180Ile Uncertain significance Single submitter
- AMY2A p.Leu229Pro Uncertain significance Single submitter
- AMY2A p.Phe434Leu Uncertain significance Single submitter
- AMY2A p.Phe441Ile Uncertain significance Single submitter
- AMY2A p.Phe444Tyr Uncertain significance Single submitter
- AMY2A p.Pro72His Uncertain significance Single submitter
- AMY2A p.Ser18Pro Uncertain significance Single submitter
- AMY2A p.Thr178Ile Uncertain significance Single submitter
- AMY2A p.Thr269Ala Uncertain significance Single submitter
- AMY2A p.Trp218Arg Uncertain significance Single submitter
- AMY2A p.Tyr46Phe Uncertain significance Single submitter
- AMY2A p.Tyr67His Uncertain significance Single submitter
- AMY2A p.Val104Asp Uncertain significance Single submitter
- AMY2A p.Val190Met Uncertain significance Single submitter
- AMY2A p.Val37Ile Uncertain significance Single submitter
Predictors split 35
The independent predictors disagree with each other — read with care.
- AMY2A p.Ala65Thr Uncertain significance Single submitter
- AMY2A p.Arg107Cys Uncertain significance Single submitter
- AMY2A p.Arg176His Uncertain significance Single submitter
- AMY2A p.Arg25Trp Uncertain significance Single submitter
- AMY2A p.Arg267Gln Uncertain significance Single submitter
- AMY2A p.Arg267Trp Uncertain significance Single submitter
- AMY2A p.Arg413His Uncertain significance Single submitter
- AMY2A p.Arg45Gln Uncertain significance Single submitter
- AMY2A p.Asn103Ser Uncertain significance Single submitter
- AMY2A p.Asn20Asp Uncertain significance Single submitter
- AMY2A p.Asn378Tyr Uncertain significance Single submitter
- AMY2A p.Asn423Asp Uncertain significance Single submitter
- AMY2A p.Asp227Glu Uncertain significance Single submitter
- AMY2A p.Asp371Asn Uncertain significance Single submitter
- AMY2A p.Glu287Lys Uncertain significance Single submitter
- AMY2A p.Gly148Arg Uncertain significance Single submitter
- AMY2A p.Gly24Arg Uncertain significance Single submitter
- AMY2A p.Ile204Val Uncertain significance Single submitter
- AMY2A p.Ile245Phe Uncertain significance Single submitter
- AMY2A p.Leu181Ile Uncertain significance Single submitter
- AMY2A p.Leu201Val Uncertain significance Single submitter
- AMY2A p.Leu229Met Uncertain significance Single submitter
- AMY2A p.Leu5Arg Uncertain significance Single submitter
- AMY2A p.Lys288Glu Uncertain significance Single submitter
- AMY2A p.Phe444Leu Uncertain significance Single submitter
- AMY2A p.Phe444Val Uncertain significance Single submitter
- AMY2A p.Pro136Arg Uncertain significance Single submitter
- AMY2A p.Pro49Ala Uncertain significance Single submitter
- AMY2A p.Pro69Thr Uncertain significance Single submitter
- AMY2A p.Ser160Asn Uncertain significance Single submitter
- AMY2A p.Ser234Ile Uncertain significance Single submitter
- AMY2A p.Thr126Ala Uncertain significance Single submitter
- AMY2A p.Tyr291His Uncertain significance Single submitter
- AMY2A p.Val29Ile Uncertain significance Single submitter
- AMY2A p.Val80Leu Uncertain significance Single submitter
All AMY2A variants
Benign 1
- p.Thr99Asn Multiple submitters
Likely benign 3
Uncertain significance 67
- p.Ala112Asp Single submitter ⚠
- p.Ala121Thr Single submitter ⚠
- p.Ala124Gly Single submitter ⚠
- p.Ala65Thr Single submitter ⚠
- p.Arg107Cys Single submitter ⚠
- p.Arg176His Single submitter ⚠
- p.Arg210Gly Single submitter ⚠
- p.Arg210Lys Single submitter ⚠
- p.Arg25Trp Single submitter ⚠
- p.Arg267Gln Single submitter ⚠
- p.Arg267Trp Single submitter ⚠
- p.Arg413Cys Single submitter ⚠
- p.Arg413His Single submitter ⚠
- p.Arg413Leu Single submitter ⚠
- p.Arg45Gln Single submitter ⚠
- p.Asn103Ser Single submitter ⚠
- p.Asn120Ser Single submitter ⚠
- p.Asn20Asp Single submitter ⚠
- p.Asn378Tyr Single submitter ⚠
- p.Asn423Asp Single submitter ⚠
- p.Asn90Ser Single submitter ⚠
- p.Asp182Gly Single submitter ⚠
- p.Asp227Glu Single submitter ⚠
- p.Asp368Tyr Single submitter ⚠
- p.Asp371Asn Single submitter ⚠
- p.Glu287Lys Single submitter ⚠
- p.Gly148Ala Single submitter ⚠
- p.Gly148Arg Single submitter ⚠
- p.Gly208Glu Single submitter ⚠
- p.Gly24Arg Single submitter ⚠
- p.Gly278Ser Single submitter ⚠
- p.His401Leu Single submitter ⚠
- p.Ile204Val Single submitter ⚠
- p.Ile245Phe Single submitter ⚠
- p.Ile39Thr Single submitter ⚠
- p.Ile411Asn Single submitter ⚠
- p.Leu180Ile Single submitter ⚠
- p.Leu181Ile Single submitter ⚠
- p.Leu201Val Single submitter ⚠
- p.Leu229Met Single submitter ⚠
- p.Leu229Pro Single submitter ⚠
- p.Leu5Arg Single submitter ⚠
- p.Lys288Glu Single submitter ⚠
- p.Phe434Leu Single submitter ⚠
- p.Phe441Ile Single submitter ⚠
- p.Phe444Leu Single submitter ⚠
- p.Phe444Tyr Single submitter ⚠
- p.Phe444Val Single submitter ⚠
- p.Pro136Arg Single submitter ⚠
- p.Pro49Ala Single submitter ⚠
- p.Pro69Thr Single submitter ⚠
- p.Pro72His Single submitter ⚠
- p.Ser160Asn Single submitter ⚠
- p.Ser18Pro Single submitter ⚠
- p.Ser234Ile Single submitter ⚠
- p.Thr126Ala Single submitter ⚠
- p.Thr178Ile Single submitter ⚠
- p.Thr269Ala Single submitter ⚠
- p.Trp218Arg Single submitter ⚠
- p.Tyr291His Single submitter ⚠
- p.Tyr46Phe Single submitter ⚠
- p.Tyr67His Single submitter ⚠
- p.Val104Asp Single submitter ⚠
- p.Val190Met Single submitter ⚠
- p.Val29Ile Single submitter ⚠
- p.Val37Ile Single submitter ⚠
- p.Val80Leu Single submitter ⚠